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Sample records for acquired disorder characterized

  1. Perioperatively acquired disorders of coagulation

    PubMed Central

    Grottke, Oliver; Fries, Dietmar; Nascimento, Bartolomeu

    2015-01-01

    Purpose of review To provide an overview of acquired coagulopathies that can occur in various perioperative clinical settings. Also described are coagulation disturbances linked to antithrombotic medications and currently available strategies to reverse their antithrombotic effects in situations of severe hemorrhage. Recent findings Recent studies highlight the link between low fibrinogen and decreased fibrin polymerization in the development of acquired coagulopathy. Particularly, fibrin(ogen) deficits are observable after cardiopulmonary bypass in cardiac surgery, on arrival at the emergency room in trauma patients, and with ongoing bleeding after child birth. Regarding antithrombotic therapy, although new oral anticoagulants offer the possibility of efficacy and relative safety compared with vitamin K antagonists, reversal of their anticoagulant effect with nonspecific agents, including prothrombin complex concentrate, has provided conflicting results. Specific antidotes, currently being developed, are not yet licensed for clinical use, but initial results are promising. Summary Targeted hemostatic therapy aims to correct coagulopathies in specific clinical settings, and reduce the need for allogeneic transfusions, thus preventing massive transfusion and its deleterious outcomes. Although there are specific guidelines for reversing anticoagulation in patients treated with antiplatelet agents or warfarin, there is currently little evidence to advocate comprehensive recommendations to treat drug-induced coagulopathy associated with new oral anticoagulants. PMID:25734869

  2. Clinicopathological correlation of acquired hypopigmentary disorders.

    PubMed

    Patel, Anisha B; Kubba, Raj; Kubba, Asha

    2013-01-01

    Acquired hypopigmentary disorders comprise a significant group of disorders that affect Indians and Asians. The pigment disturbance in darker skin individuals can be very distressing to the patient and the family. These disorders cover a wide array of pathologies including infections, autoimmune processes, lymphoproliferative disorders, and sclerosing diseases. Histological diagnosis is particularly important because treatments for these diseases are varied and specific. This review will focus on histopathological diagnosis based on clinicopathological correlation for commonly encountered disorders such as leprosy, vitiligo, lichen sclerosus, pityriasis alba (PA), and pityriasis versicolor (PV). Atypical or uncommon clinical presentation of classic diseases such as hypopigmented mycosis fungoides (HMF) and hypopigmented sarcoidosis are also included. PMID:23619442

  3. How to characterize disorder

    NASA Astrophysics Data System (ADS)

    Egami, T.

    2016-05-01

    Researchers working on nuclear materials encounter disorder in the atomic structure all the time, usually caused by irradiation. The nature of disorder varies widely, from lattice defects to amorphous phase formation. Generally it is not easy to characterize the state of disorder with the accuracy necessary to elucidate the properties caused by structural disorder. However, owing to advances in the tools of characterization and rapid rise in computer power, significant progress has been made in characterizing structural disorder. We discuss how to describe and determine the structure and dynamics of disordered materials using scattering measurements and modeling. Lattice defects caused by irradiation usually has negative effects on properties, but glasses and highly disordered materials can be irradiation resistant, and could be useful as nuclear materials. Characterizing and controlling disorder is becoming an important endeavor in the field of nuclear materials.

  4. Community-Acquired Pneumonia Hospitalization among Children with Neurologic Disorders

    PubMed Central

    Millman, Alexander J.; Finelli, Lyn; Bramley, Anna M.; Peacock, Georgina; Williams, Derek J.; Arnold, Sandra R.; Grijalva, Carlos G.; Anderson, Evan J.; McCullers, Jonathan A.; Ampofo, Krow; Pavia, Andrew T.; Edwards, Kathryn M.; Jain, Seema

    2016-01-01

    Objective To describe and compare the clinical characteristics, outcomes, and etiology of pneumonia among children hospitalized with community-acquired pneumonia (CAP) with neurologic disorders, non-neurologic underlying conditions, and no underlying conditions. Study design Children <18 years old hospitalized with clinical and radiographic CAP were enrolled at 3 US children’s hospitals. Neurologic disorders included cerebral palsy, developmental delay, Down syndrome, epilepsy, non-Down syndrome chromosomal abnormalities, and spinal cord abnormalities. We compared the epidemiology, etiology, and clinical outcomes of CAP in children with neurologic disorders with those with non-neurologic underlying conditions, and those with no underlying conditions using bivariate, age-stratified, and multivariate logistic regression analyses. Results From January 2010–June 2012, 2358 children with radiographically confirmed CAP were enrolled; 280 (11.9%) had a neurologic disorder (52.1% of these individuals also had non-neurologic underlying conditions), 934 (39.6%) had non-neurologic underlying conditions only, and 1144 (48.5%) had no underlying conditions. Children with neurologic disorders were older and more likely to require intensive care unit (ICU) admission than children with non-neurologic underlying conditions and children with no underlying conditions; similar proportions were mechanically ventilated. In age-stratified analysis, children with neurologic disorders were less likely to have a pathogen detected than children with non-neurologic underlying conditions. In multivariate analysis, having a neurologic disorder was associated with ICU admission for children ≥2 years of age. Conclusions Children with neurologic disorders hospitalized with CAP were less likely to have a pathogen detected and more likely to be admitted to the ICU than children without neurologic disorders. PMID:27017483

  5. Telerehabilitation, Virtual Therapists, and Acquired Neurologic Speech and Language Disorders

    PubMed Central

    Cherney, Leora R.; van Vuuren, Sarel

    2013-01-01

    Telerehabilitation (telererehab) offers cost effective services that potentially can improve access to care for those with acquired neurologic communication disorders. However, regulatory issues including licensure, reimbursement, and threats to privacy and confidentiality hinder the routine implementation of telerehab services into the clinical setting. Despite these barriers, rapid technological advances and a growing body of research regarding the use of telerehab applications support its use. This article reviews the evidence related to acquired neurologic speech and language disorders in adults, focusing on studies that have been published since 2000. Research studies have used telerehab systems to assess and treat disorders including dysarthria, apraxia of speech, aphasia, and mild Alzheimer’s disease. They show that telerehab is a valid and reliable vehicle for delivering speech and language services. The studies represent a progression of technological advances in computing, Internet, and mobile technologies. They range on a continuum from working synchronously (in real-time) with a speech-language pathologist to working asynchronously (offline) with a stand-in virtual therapist. One such system that uses a virtual therapist for the treatment of aphasia, the Web-ORLA™ (Rehabilitation Institute of Chicago, Chicago, IL) system, is described in detail. Future directions for the advancement of telerehab for clinical practice are discussed. PMID:22851346

  6. Sperm tsRNAs and acquired metabolic disorders.

    PubMed

    Yan, Menghong; Zhai, Qiwei

    2016-09-01

    Many findings support the hypothesis that metabolic changes associated with environmental factors can be transmitted from father to offspring. The molecular mechanisms underlying the intergenerational transmission of metabolic changes remain to be fully explored. These acquired metabolic disorders in offspring may be partially explained by some potential epigenetic information carriers such as DNA methylation, histone modification and small non-coding RNAs. Recent evidence shows that sperm tRNA-derived small RNAs (tsRNAs) as a type of paternal epigenetic information carrier may mediate intergenerational inheritance. In this review, we provide current knowledge of a father's influence on metabolic disorders in subsequent generations and discuss the roles of sperm tsRNAs and their modifications in paternal epigenetic information transmission. PMID:27340033

  7. Guidelines for genomic array analysis in acquired haematological neoplastic disorders.

    PubMed

    Schoumans, Jacqueline; Suela, Javier; Hastings, Ros; Muehlematter, Dominique; Rack, Katrina; van den Berg, Eva; Berna Beverloo, H; Stevens-Kroef, Marian

    2016-05-01

    Genetic profiling is important for disease evaluation and prediction of prognosis or responsiveness to therapy in neoplasia. Microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, have in recent years been introduced into the diagnostic setting for specific types of haematological malignancies and solid tumours. It can be used as a complementary test or depending on the neoplasia investigated, also as a standalone test. However, comprehensive and readable presentation of frequently identified complex genomic profiles remains challenging. To assist diagnostic laboratories, standardization and minimum criteria for clinical interpretation and reporting of acquired genomic abnormalities detected through arrays in neoplastic disorders are presented. © 2016 Wiley Periodicals, Inc. PMID:26774012

  8. Role of Radiologic Imaging in Genetic and Acquired Neuromuscular Disorders

    PubMed Central

    Zanato, Riccardo; Coran, Alessandro; Beltrame, Valeria; Stramare, Roberto

    2015-01-01

    Great technologic and clinical progress have been made in the last two decades in identifying genetic defects of several neuromuscular diseases, as Spinal Muscular Atrophy, genetic muscular dystrophies and other genetic myopathies. The diagnosis is usually challenging, due to great variability in genetic abnormalities and clinical phenotypes and the poor specificity of complementary analyses, i.e., serum creatine kinase (CK) and electrophysiology. Muscle biopsy represents the gold standard for the diagnosis of genetic neuromuscular diseases, but clinical imaging of muscle tissue is an important diagnostic tool to identify and quantifyies muscle damage. Radiologic imaging is, indeed, increasingly used as a diagnostic tool to describe patterns and the extent of muscle involvement, thanks to modern techniques that enable to definethe definition of degrees of muscle atrophy and changes in connective tissue. They usually grade the severity of the disease process with greater accuracy than clinical scores. Clinical imaging is more than complementary to perform muscle biopsy, especially as ultrasound scans are often mandatory to identify the muscle to be biopsied. We will here detail and provideWe will herein provide detailed examples of the radiologic methods that can be used in genetic and acquired neuromuscular disorders, stressing pros and cons. Key Words: Muscle Imaging, MRI, CT, genetic muscle disorders, myopathies, dystrophies PMID:26913153

  9. Diagnosis and management of common acquired bleeding disorders.

    PubMed

    De Simone, Nicole; Sarode, Ravi

    2013-03-01

    Acquired bleeding disorders (ABD) are commonly encountered in both inpatient and outpatient settings. ABD can occur due to consumption, decreased synthesis, or inhibition of coagulation factors and platelets. Clinical presentation may vary, ranging from mild bruising to life-threatening hemorrhage. The location, frequency, severity, and provocation of bleeding provide insight into the cause of ABD. Obtaining a good medical, surgical, family, social, and medication history is a crucial step in determining the underlying etiology. Basic laboratory parameters, such as prothrombin time, partial thromboplastin time, thrombin time, fibrinogen, platelet count, and D-dimer levels, aid in further elucidating the reason for bleeding. Optimal management depends on accurate interpretation of the history and laboratory values. Treatment options include administration of vitamin K; blood component transfusion, consisting of plasma, cryoprecipitate, and/or platelets; and blood derivatives, including single and multiple factor concentrates. These products should be used judiciously, due to potential infectious and noninfectious complications, including transfusion-related acute lung injury and transfusion-associated circulatory overload. This article discusses the management of the more common causes of ABD. PMID:23390026

  10. Acquired and congenital disorders of sung performance: A review.

    PubMed

    Berkowska, Magdalena; Dalla Bella, Simone

    2009-01-01

    Many believe that the majority of people are unable to carry a tune. Yet, this widespread idea underestimates the singing abilities of the layman. Most occasional singers can sing in tune and in time, provided that they perform at a slow tempo. Here we characterize proficient singing in the general population and identify its neuronal underpinnings by reviewing behavioral and neuroimaging studies. In addition, poor singing resulting from a brain injury or neurogenetic disorder (i.e., tone deafness or congenital amusia) is examined. Different lines of evidence converge in indicating that poor singing is not a monolithic deficit. A variety of poor-singing "phenotypes" are described, with or without concurrent perceptual deficits. In addition, particular attention is paid to the dissociations between specific abilities in poor singers (e.g., production of absolute vs. relative pitch, pitch vs. time accuracy). Such diversity of impairments in poor singers can be traced to different faulty mechanisms within the vocal sensorimotor loop, such as pitch perception and sensorimotor integration. PMID:20523851

  11. Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

    PubMed

    Allen, Nicholas M; Conroy, Judith; Deonna, Thierry; McCreary, Dara; McGettigan, Paul; Madigan, Cathy; Carter, Imogen; Ennis, Sean; Lynch, Sally A; Shahwan, Amre; King, Mary D

    2016-01-01

    Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike-wave during sleep (CSWS), and sometimes reversible neurocognitive deficits. There are few reported cases of ABPE describing detailed correlative longitudinal follow-up of the various associated neurocognitive, language, social communicative, or motor deficits, in parallel with the epilepsy. Furthermore, the molecular inheritance pattern for ABPE and the wider spectrum of epilepsy aphasia disorders have yet to be fully elucidated. We describe the phenotype-genotype study of a boy with ABPE with follow-up from ages 5 to 13 years showing acquired oromotor and, later, a specific lexical semantic and pervasive developmental disorder. Exome sequencing identified variants in SCN9A, CPA6, and SCNM1. A direct role of the epilepsy in the pathogenesis of the oromotor and neurocognitive deficits is apparent. PMID:27504264

  12. Episodic disorders of behaviour and affect after acquired brain injury.

    PubMed

    Eames, Peter Eames; Wood, Rodger Ll

    2003-01-01

    Psychological disorders that follow traumatic brain injury are possibly more complex and diverse than those associated with other forms of "brain damage". These may include organic aggressive, or organic affective syndromes that are episodic in nature and therefore require a more specific diagnosis, a different classification, and a different approach to treatment. Consequently, it is necessary for clinicians to learn to distinguish between "primary" psychiatric illnesses and those disorders of behavioural control and mood that stem specifically from brain injury. There is relatively little in the clinical literature that explains the relationship between variable states of behaviour, mood or temperament, and clinical disorders that may have long-term implications for patient management. This concept paper therefore addresses abnormalities of mood and behaviour that are episodic in character and are not recognisably included in the DSM and ICD classifications of psychological or psychiatric disorders. PMID:21854336

  13. When words fail us: insights into language processing from developmental and acquired disorders.

    PubMed

    Bishop, Dorothy V M; Nation, Kate; Patterson, Karalyn

    2014-01-01

    Acquired disorders of language represent loss of previously acquired skills, usually with relatively specific impairments. In children with developmental disorders of language, we may also see selective impairment in some skills; but in this case, the acquisition of language or literacy is affected from the outset. Because systems for processing spoken and written language change as they develop, we should beware of drawing too close a parallel between developmental and acquired disorders. Nevertheless, comparisons between the two may yield new insights. A key feature of connectionist models simulating acquired disorders is the interaction of components of language processing with each other and with other cognitive domains. This kind of model might help make sense of patterns of comorbidity in developmental disorders. Meanwhile, the study of developmental disorders emphasizes learning and change in underlying representations, allowing us to study how heterogeneity in cognitive profile may relate not just to neurobiology but also to experience. Children with persistent language difficulties pose challenges both to our efforts at intervention and to theories of learning of written and spoken language. Future attention to learning in individuals with developmental and acquired disorders could be of both theoretical and applied value. PMID:24324244

  14. When words fail us: insights into language processing from developmental and acquired disorders

    PubMed Central

    Bishop, Dorothy V. M.; Nation, Kate; Patterson, Karalyn

    2014-01-01

    Acquired disorders of language represent loss of previously acquired skills, usually with relatively specific impairments. In children with developmental disorders of language, we may also see selective impairment in some skills; but in this case, the acquisition of language or literacy is affected from the outset. Because systems for processing spoken and written language change as they develop, we should beware of drawing too close a parallel between developmental and acquired disorders. Nevertheless, comparisons between the two may yield new insights. A key feature of connectionist models simulating acquired disorders is the interaction of components of language processing with each other and with other cognitive domains. This kind of model might help make sense of patterns of comorbidity in developmental disorders. Meanwhile, the study of developmental disorders emphasizes learning and change in underlying representations, allowing us to study how heterogeneity in cognitive profile may relate not just to neurobiology but also to experience. Children with persistent language difficulties pose challenges both to our efforts at intervention and to theories of learning of written and spoken language. Future attention to learning in individuals with developmental and acquired disorders could be of both theoretical and applied value. PMID:24324244

  15. Acquired Hemophilia A: A Frequently Overlooked Autoimmune Hemorrhagic Disorder

    PubMed Central

    Takeda, Tomohiro

    2014-01-01

    Acquired hemophilia A (AHA) is a rare hemorrhagic disease in which autoantibodies against coagulation factor VIII- (FVIII-) neutralizing antibodies (inhibitors) impair the intrinsic coagulation system. As the inhibitors developed in AHA are autoantibodies, the disease may have an autoimmune cause and is often associated with autoimmune disease. Although acute hemorrhage associated with AHA may be fatal and is costly to treat, AHA is often unrecognized or misdiagnosed. AHA should thus be considered in the differential diagnosis particularly in postpartum women and the elderly with bleeding tendency or prolonged activated partial thromboplastin time. Cross-mixing tests and measurement of FVIII-binding antibodies are useful to confirm AHA diagnosis. For treatment of acute hemorrhage, hemostatic therapy with bypassing agents should be provided. Unlike in congenital hemophilia A with inhibitors, in which immune tolerance induction therapy using repetitive infusions of high-dose FVIII concentrates is effective for inhibitor eradication, immune tolerance induction therapy has shown poor efficacy in treating AHA. Immunosuppressive treatment should thus be initiated to eradicate inhibitors as soon as the diagnosis of AHA is confirmed. PMID:24741588

  16. The utility of thromboelastography in inherited and acquired bleeding disorders.

    PubMed

    Nogami, Keiji

    2016-08-01

    Thromboelastography (TEG) was first described by Hartert in 1948, and was designed to monitor viscoelastic clot strength in whole blood in real time. The current TEG method and Rotational Thromboelastometry (ROTEM) were subsequently developed from the original principles. Both of the modern methods provide data by measuring changes in the viscoelastic strength of a small sample of clotting blood in response to a constant rotational force. The important advantage of these techniques is to visually observe and quantify blood coagulation including the propagation, stabilization and dissolution phases of clot formation under low shear conditions. Analysis of the results provides detailed kinetic data on fibrin generation, clot strength and fibrinolysis. These TEG/ROTEM analyses therefore enable evaluation of global clotting function and the monitoring of haemostatic treatment in various clinical situations, not only in patients with genetic bleeding disorders, such as haemophilia, but also in patients undergoing cardiac surgery, liver transplantation or suffering from traumatic injury. Some evidence suggests that haemostatic management using TEG/ROTEM leads to a reduction in total transfusions of whole blood or clotting factors. Wider clinical application of this technology seems likely. PMID:27264484

  17. Successful management of severe refractory acquired immune bleeding disorder: Prior to insisting surgery

    PubMed Central

    Al-Jafar, Hassan; Al-Barjas, H.; Hashem, Raed A.; Refaii, Thanaa M.K.; AlSaeed, Ahmad M.

    2014-01-01

    INTRODUCTION Acquired bleeding disorders are rare and may be missed before surgery. Additionally, they may be refractory to conventional treatments. PRESENTATION OF CASE A 50-year-old patient experienced prolonged post-operative bleeding when his bleeding disorder was missed prior to his undergoing inguinal herniorrhaphy. Post-operative investigations revealed severe acquired von Willebrand syndrome associated with a monoclonal gammopathy of undetermined significance. A few months later, he required umbilical herniorrhaphy, but he did not respond to attempts to raise his von Willebrand factor antigen and activity levels using conventional therapies, including desmopressin, cryoprecipitate, intravenous immunoglobulin, and Von Willebrand factor concentrate. A triple therapy combination of dexamethasone, intravenous immunoglobulin, and mycophenolate mofetil was administered, with a successful and sustained response, lasting about 2 months. The surgery was performed safely, without any complications. DISCUSSION Conventional acquired von Willebrand syndrome treatment is usually aimed at replacing von Willebrand factor or stimulating its secretion from storage in endothelial cells. In the present case, the alternative treatment was directed against both the humoral and cell-mediated immune mechanisms. CONCLUSION This case of acquired bleeding disorder showed that more attention must be given to a patient's coagulation profile, even if only very minor laboratory coagulation derangements are detected prior to surgery, to avoid missing such rare disorders. The described triple therapy demonstrated good effects and may be considered for inclusion in a controlled randomized study to determine its usefulness for other surgeries delayed due to severe acquired bleeding disorders. To the best of our knowledge, this triple combination treatment has not been previously used for the treatment of severe acquired bleeding disorders that are refractory to conventional therapies. PMID

  18. Augmentative and Alternative Communication Application for Persons with Severe Acquired Communication Disorders: An Introduction.

    ERIC Educational Resources Information Center

    Beukelman, David R.; Yorkston, Kathryn M.

    1989-01-01

    The article introduces five case study reports that illustrate augmentative and alternative communication (AAC) interventions with adults who have severe acquired communication disorders. Issues common to AAC management of adults are considered as are issues specific to the conditions of amytrophic lateral sclerosis, multiple sclerosis, brain…

  19. The Relationship between Body Dysmorphic Disorder Behaviors and the Acquired Capability for Suicide

    ERIC Educational Resources Information Center

    Witte, Tracy K.; Didie, Elizabeth R.; Menard, William; Phillips, Katharine A.

    2012-01-01

    In a sample of 200 individuals diagnosed with body dysmorphic disorder (BDD), we utilized the interpersonal-psychological theory for suicide as a framework to examine BDD behaviors that might be associated with suicide risk, insofar as they might increase the acquired capability for suicide. We predicted that physically painful BDD behaviors…

  20. In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

    PubMed

    Sherry, Erica B; Lee, Phil; Choi, In-Young

    2015-12-01

    Metabolic disorders, whether hereditary or acquired, affect the brain, and abnormalities of the brain are related to cellular integrity; particularly in regard to neurons and astrocytes as well as interactions between them. Metabolic disturbances lead to alterations in cellular function as well as microscopic and macroscopic structural changes in the brain with diabetes, the most typical example of metabolic disorders, and a number of hereditary metabolic disorders. Alternatively, cellular dysfunction and degeneration of the brain lead to metabolic disturbances in hereditary neurological disorders with neurodegeneration. Nuclear magnetic resonance (NMR) techniques allow us to assess a range of pathophysiological changes of the brain in vivo. For example, magnetic resonance spectroscopy detects alterations in brain metabolism and energetics. Physiological magnetic resonance imaging (MRI) detects accompanying changes in cerebral blood flow related to neurovascular coupling. Diffusion and T1/T2-weighted MRI detect microscopic and macroscopic changes of the brain structure. This review summarizes current NMR findings of functional, physiological and biochemical alterations within a number of hereditary and acquired metabolic disorders in both animal models and humans. The global view of the impact of these metabolic disorders on the brain may be useful in identifying the unique and/or general patterns of abnormalities in the living brain related to the pathophysiology of the diseases, and identifying future fields of inquiry. PMID:26610379

  1. [Neuromuscular signal transmission in adulthood. Current facets of acquired and hereditary disorders].

    PubMed

    Abicht, A; Kröger, S; Schoser, B

    2011-06-01

    The availability of early diagnosis and modern effective therapies has reduced mortality and disability linked to late-onset acquired or hereditary neuromuscular transmission disorders. Nevertheless, identification of the pathogenesis of these diseases remains a challenge. In addition to non-specific and fluctuating presenting symptoms current diagnostic work-up strategies include electrophysiology, antibody measurements and less frequently molecular genetics. For differential diagnostic purposes there is an increasing demand for improving awareness concerning late-onset congenital myasthenic syndromes (CMS) which are rare but nevertheless symptomatically treatable diseases. Especially in seronegative myasthenic syndromes, molecular genetic analyses of CMS genes should be integrated into the differential diagnostic work-up. Therefore, some facets of neuromuscular synaptogenesis in the context of seronegative acquired myasthenic syndromes and recently uncovered congenital myasthenic syndromes are reviewed. PMID:21584790

  2. A causal model of post-traumatic stress disorder: disentangling predisposed from acquired neural abnormalities.

    PubMed

    Admon, Roee; Milad, Mohammed R; Hendler, Talma

    2013-07-01

    Discriminating neural abnormalities into the causes versus consequences of psychopathology would enhance the translation of neuroimaging findings into clinical practice. By regarding the traumatic encounter as a reference point for disease onset, neuroimaging studies of post-traumatic stress disorder (PTSD) can potentially allocate PTSD neural abnormalities to either predisposing (pre-exposure) or acquired (post-exposure) factors. Based on novel research strategies in PTSD neuroimaging, including genetic, environmental, twin, and prospective studies, we provide a causal model that accounts for neural abnormalities in PTSD, and outline its clinical implications. Current data suggest that abnormalities within the amygdala and dorsal anterior cingulate cortex represent predisposing risk factors for developing PTSD, whereas dysfunctional hippocampal-ventromedial prefrontal cortex (vmPFC) interactions may become evident only after having developed the disorder. PMID:23768722

  3. Acquired auditory neuropathy spectrum disorder after an attack of chikungunya: case study.

    PubMed

    Prabhu, Prashanth

    2016-01-01

    Auditory neuropathy spectrum disorder (ANSD) is a retrocochlear disorder in which the cochlear functioning is normal but the transmission in the auditory neural pathway is affected. The present study reports of a 14-year-old teenager with acquired ANSD after an attack of chikungunya. He reported symptoms of difficulty in understanding speech, tinnitus and vertigo when exposed to loud sounds. The audiological characteristics suggested auditory neuropathy spectrum disorder with raising audiogram configuration. The results of tinnitus evaluation showed low-pitched tinnitus and it was persistent causing significant handicap to him based on self report tinnitus handicap questionnaire results. The results of depression, anxiety and stress scale also suggested symptoms of mild depression and anxiety. Chikungunya virus is suspected to be neurotropic in nature which can damage auditory nerve cells and may have caused ANSD. The result also shows presence of tullio's phenomenon and absence of cervical vestibular evoked myogenic potentials suggesting damage to the vestibular neuronal system. The possible pathophysiology of chikungunya virus causing ANSD and vestibular symptoms needs to be explored further in future studies. PMID:25728940

  4. Acquired dyslexia in a transparent orthography: an analysis of acquired disorders of reading in the Slovak language.

    PubMed

    Hricová, Marianna; Weekes, Brendan Stuart

    2012-01-01

    The first reports of phonological, surface and deep dyslexia come from orthographies containing quasi-regular mappings between orthography and phonology including English and French. Slovakian is a language with a relatively transparent orthography and hence a mostly regular script. The aim of this study was to investigate impaired oral reading in Slovakian. A novel diagnostic procedure was devised to determine whether disorders of Slovakian reading resemble characteristics in other languages. Slovakian speaking aphasics showed symptoms similar to phonological dyslexia and deep dyslexia in English and French, but there was no evidence of surface dyslexia. The findings are discussed in terms of the orthographic depth hypothesis. PMID:22713384

  5. Acquired von Willebrand syndrome associated with hypothyroidism: a mild bleeding disorder to be further investigated.

    PubMed

    Federici, Augusto B

    2011-02-01

    Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder with laboratory findings similar to those for congenital von Willebrand disease (VWD). Unlike VWD, AVWS usually occurs in individuals with no personal or family history of bleeding. The prevalence of AVWS in the general population is unknown because data from large prospective studies of this syndrome are not available. Although AVWS is more frequently associated with lympho-myeloproliferative and cardiovascular disorders, it can also occur in solid tumors and in immunological and other miscellaneous conditions. Among these miscellaneous conditions, hypothyroidism has been associated with AVWS type 1 with a frequency of ~2 to 5%. In the 47 cases reported in the literature, the low VWF is apparently due to a reduction in its synthesis and/or secretion. Diagnosis of AVWS is based on assays measuring the level and activity of von Willebrand factor (VWF). These tend to be low, whereas factor VIII (FVIII) coagulant activity can be normal. In patients with AVWS associated with hypothyroidism, mucocutaneous bleeding episodes are the most frequent and can be managed with local therapy and/or systemic administrations of antifibrinolytic agents and desmopressin. VWF/FVIII concentrates have been used in only a few patients. The use of thyroid hormones can reverse this abnormality. PMID:21305800

  6. Prevalence of transfusion-acquired hepatitis C in an Australian bleeding disorders population.

    PubMed

    Northcott, M J; Ong, W L; Walsh, M; McCarthy, P; Belleli, D; Tran, H; Street, A; Kemp, W; Davis, A K

    2013-11-01

    In Australia prior to 1992, many patients with bleeding disorders were exposed to hepatitis C through blood products. However, the incidence, complications and response to treatment of chronic hepatitis C (CHC) in this population are poorly characterized. The aim of this study was to examine the prevalence of CHC and response to treatment in an Australian bleeding disorders population. Demographic data, virological data and liver disease status from these 700 patients with inherited bleeding disorders were analysed. Of these 700 patients, 424 (61%) had been tested for CHC infection and 219 (52%) were hepatitis C antibody positive, with the prevalence approaching 100% in patients with severe bleeding disorders. Of 219 patients, 73 (33%) had received treatment for their infection with a response rate of 33/73 (45%) across all genotypes. Of 219 patients, 34 (16%) had spontaneous viral clearance. When measured with transient elastography, 44/98 (45%) patients with CHC had significant liver fibrosis and 15/98 (15%) had liver cirrhosis. Of 130 patients, 38 (29%) with CHC infection had no evidence of follow-up with an appropriate clinician in the past 2 years. This study demonstrates that testing for CHC in this population is incomplete and treatment rates are low. Given the substantial morbidity and mortality associated with CHC and new therapeutic options becoming available, it seems important to reengage patients to diagnose, offer treatment and monitor this infection. PMID:23738855

  7. Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder

    PubMed Central

    Frye, R E; Melnyk, S; MacFabe, D F

    2013-01-01

    Autism spectrum disorder (ASD) has been associated with mitochondrial disease (MD). Interestingly, most individuals with ASD and MD do not have a specific genetic mutation to explain the MD, raising the possibility of that MD may be acquired, at least in a subgroup of children with ASD. Acquired MD has been demonstrated in a rodent ASD model in which propionic acid (PPA), an enteric bacterial fermentation product of ASD-associated gut bacteria, is infused intracerebroventricularly. This animal model shows validity as it demonstrates many behavioral, metabolic, neuropathologic and neurophysiologic abnormalities associated with ASD. This animal model also demonstrates a unique pattern of elevations in short-chain and long-chain acyl-carnitines suggesting abnormalities in fatty-acid metabolism. To determine if the same pattern of biomarkers of abnormal fatty-acid metabolism are present in children with ASD, the laboratory results from a large cohort of children with ASD (n=213) who underwent screening for metabolic disorders, including mitochondrial and fatty-acid oxidation disorders, in a medically based autism clinic were reviewed. Acyl-carnitine panels were determined to be abnormal if three or more individual acyl-carnitine species were abnormal in the panel and these abnormalities were verified by repeated testing. Overall, 17% of individuals with ASD demonstrated consistently abnormal acyl-carnitine panels. Next, it was determined if specific acyl-carnitine species were consistently elevated across the individuals with consistently abnormal acyl-carnitine panels. Significant elevations in short-chain and long-chain, but not medium-chain, acyl-carnitines were found in the ASD individuals with consistently abnormal acyl-carnitine panels—a pattern consistent with the PPA rodent ASD model. Examination of electron transport chain function in muscle and fibroblast culture, histological and electron microscopy examination of muscle and other biomarkers of

  8. Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis.

    PubMed

    Yun, Seongseok; Vincelette, Nicole D

    2015-07-01

    Iron is an essential component of erythropoiesis and its metabolism is tightly regulated by a variety of internal and external cues including iron storage, tissue hypoxia, inflammation and degree of erythropoiesis. There has been remarkable improvement in our understanding of the molecular mechanisms of iron metabolism past decades. The classical model of iron metabolism with iron response element/iron response protein (IRE/IRP) is now extended to include hepcidin model. Endogenous and exogenous signals funnel down to hepcidin via wide range of signaling pathways including Janus Kinase/Signal Transducer and Activator of Transcription 3 (JAK/STAT3), Bone Morphogenetic Protein/Hemojuvelin/Mothers Against Decapentaplegic Homolog (BMP/HJV/SMAD), and Von Hippel Lindau/Hypoxia-inducible factor/Erythropoietin (VHL/HIF/EPO), then relay to ferroportin, which directly regulates intra- and extracellular iron levels. The successful molecular delineation of iron metabolism further enhanced our understanding of common genetic and acquired disorder, hemochromatosis. The majority of the hereditary hemochromatosis (HH) patients are now shown to have mutations in the genes coding either upstream or downstream proteins of hepcidin, resulting in iron overload. The update on hepcidin centered mechanisms of iron metabolism and their clinical perspective in hemochromatosis will be discussed in this review. PMID:25737209

  9. The acquired hyperostosis syndrome: a little known skeletal disorder with distinctive radiological and clinical features.

    PubMed

    Dihlmann, W; Schnabel, A; Gross, W L

    1993-12-01

    The acquired hyperostosis syndrome (AHS) is a chronic inflammatory disorder of bone of unknown etiology. It is accompanied by circumscribed hyperostosis which can be associated with ossifying lesions at sites of tendinous and ligamentary insertions and erosive or non-erosive arthritis. The predominant location of lesions is the sternocostoclavicular region (approximately 80% of patients), less frequent are involvement of the spine, pelvis, and appendicular skeleton. In 20%-60% of cases AHS is associated with palmoplantar pustulosis, psoriasis, or severe acne (acne fulminans or conglobata). The X-ray appearance of AHS is a more or less homogeneous increase in density with blurred margins, which on scintiscan with labeled phosphate compounds is associated with intense accretion of tracer. These features are associated with a variable increase in the acute phase reactants and a conspicuously low increase, if any, in serum alkaline phosphatase. The therapeutic modalities which have been used so far are entirely symptomatic. Long-lasting improvement has been reported following percutaneous anti-inflammatory radiation therapy. PMID:8136615

  10. Disorders of consciousness after acquired brain injury: the state of the science.

    PubMed

    Giacino, Joseph T; Fins, Joseph J; Laureys, Steven; Schiff, Nicholas D

    2014-02-01

    The concept of consciousness continues to defy definition and elude the grasp of philosophical and scientific efforts to formulate a testable construct that maps to human experience. Severe acquired brain injury results in the dissolution of consciousness, providing a natural model from which key insights about consciousness may be drawn. In the clinical setting, neurologists and neurorehabilitation specialists are called on to discern the level of consciousness in patients who are unable to communicate through word or gesture, and to project outcomes and recommend approaches to treatment. Standards of care are not available to guide clinical decision-making for this population, often leading to inconsistent, inaccurate and inappropriate care. In this Review, we describe the state of the science with regard to clinical management of patients with prolonged disorders of consciousness. We review consciousness-altering pathophysiological mechanisms, specific clinical syndromes, and novel diagnostic and prognostic applications of advanced neuroimaging and electrophysiological procedures. We conclude with a provocative discussion of bioethical and medicolegal issues that are unique to this population and have a profound impact on care, as well as raising questions of broad societal interest. PMID:24468878

  11. Acquired prosopagnosia as a face-specific disorder: ruling out the general visual similarity account.

    PubMed

    Busigny, Thomas; Graf, Markus; Mayer, Eugène; Rossion, Bruno

    2010-06-01

    Prosopagnosia is classically defined as a disorder of visual recognition specific to faces, following brain damage. However, according to a long-standing alternative view, these patients would rather be generally impaired in recognizing objects belonging to visually homogenous categories, including faces. We tested this alternative hypothesis stringently with a well-documented brain-damaged prosopagnosic patient (PS) in three delayed forced-choice recognition experiments in which visual similarity between a target and its distractor was manipulated parametrically: novel 3D geometric shapes, morphed pictures of common objects, and morphed photographs of a highly homogenous familiar category (cars). In all experiments, PS showed normal performance and speed, and there was no evidence of a steeper increase of error rates and RTs with increasing levels of visual similarity, compared to controls. These data rule out an account of acquired prosopagnosia in terms of a more general impairment in recognizing objects from visually homogenous categories. An additional experiment with morphed faces confirmed that PS was specifically impaired at individual face recognition. However, in stark contrast to the alternative view of prosopagnosia, PS was relatively more impaired at the easiest levels of discrimination, i.e. when individual faces differ clearly in global shape rather than when faces were highly similar and had to be discriminated based on fine-grained details. Overall, these observations as well as a review of previous evidence, lead us to conclude that this alternative view of prosopagnosia does not hold. Rather, it seems that brain damage in adulthood may lead to selective recognition impairment for faces, perhaps the only category of visual stimuli for which holistic/configural perception is not only potentially at play, but is strictly necessary to individualize members of the category efficiently. PMID:20362595

  12. Specific translocations characterize Burkitt's-like lymphoma of homosexual men with the acquired immunodeficiency syndrome.

    PubMed

    Chaganti, R S; Jhanwar, S C; Koziner, B; Arlin, Z; Mertelsmann, R; Clarkson, B D

    1983-06-01

    A Burkitt's-like B-cell lymphoma (BLL) has recently been shown to be associated with the acquired immunodeficiency syndrome (AIDS), which affects homosexual men. We report cytogenetic studies of two BLL tumors in homosexual men. Both tumors had chromosome translocations characteristic of Burkitt's lymphoma (BL), one the t(8;14) and the other the t(8;22). The pathway of lymphomagenesis in this disorder is discussed in the light of recent data on chromosome change and localization of immunoglobulin genes and oncogenes. PMID:6839024

  13. Case against Diagnosing Developmental Language Disorder by Default: A Single Case Study of Acquired Aphasia Associated with Convulsive Disorder

    ERIC Educational Resources Information Center

    Marinac, Julie V.; Harper, Laura

    2009-01-01

    The aim of this article is to inform the diagnostic knowledge base for professionals working in the field of language disorders when classic symptoms, characteristics and sequences are not found. The information reveals the risk of diagnosis with a developmental language disorder (DLD) by default when no underlying cause can be readily identified.…

  14. Investigation of the best model to characterize diffuse correlation spectroscopy measurements acquired directly on the brain

    NASA Astrophysics Data System (ADS)

    Verdecchia, K.; Diop, M.; St. Lawrence, K.

    2015-03-01

    Diffuse correlation spectroscopy (DCS) is a non-invasive optical technique capable of monitoring tissue perfusion changes, particularly in the brain. The normalized temporal intensity autocorrelation function generated by DCS is typically characterized by assuming that the movement of erythrocytes can be modeled as a Brownian diffusion-like process instead of the expected random flow model. Carp et al. [Biomedical Optics Express, 2011] proposed a hybrid model, referred to as the hydrodynamic diffusion model, to capture both the random ballistic and diffusive nature of erythrocyte motion. The purpose of this study was to compare how well the Brownian diffusion and the hydrodynamic diffusion models characterized DCS data acquired directly on the brain, avoiding the confounding effects of scalp and skull. Data were acquired from seven pigs during normocapnia (39.9 +/- 0.7 mmHg) and hypocapnia (22.1 +/- 1.6 mmHg) with the DCS fibers placed 7 mm apart, directly on the cerebral cortex. The hydrodynamic diffusion model was found to provide a consistently better fit to the autocorrelation functions compared to the Brownian diffusion model and was less sensitive to the chosen start and end time points used in the fitting. However, the decrease in cerebral blood flow from normocapnia to hypocapnia determined was similar for the two models (-42.6 +/- 8.6 % for the Brownian model and -42.2 +/- 10.2 % for the hydrodynamic model), suggesting that the latter is reasonable for monitoring flow changes.

  15. Incidence and Long-term Outcomes of the HIV-Neuroretinal Disorder in Patients with the Acquired Immunodeficiency Syndrome

    PubMed Central

    Jabs, Douglas A.; Drye, Lea; Van Natta, Mark L.; Thorne, Jennifer E.; Holland, Gary N.

    2014-01-01

    Objectives Patients with the acquired immunodeficiency syndrome (AIDS) have an abnormality of retina/optic nerve function, manifested as decreased contrast sensitivity (in the absence of ocular opportunistic infections or media opacity), abnormalities on automated perimetry, and loss of retinal nerve fiber layer, even among those with good visual acuity, termed the HIV-neuroretinal disorder. The objectives of this study were to determine the prevalence, incidence, risk factors for, and outcomes of HIV-neuroretinal disorder. Design Prospective cohort study Participants 1822 patients with AIDS without ocular infections or media opacities. Methods Patients with HIV-neuroretinal disorder were identified by a contrast sensitivity < 1.50 log units in either eye in the absence of ocular opportunistic infections or media opacity. Main outcome measures Incidence of HIV-neuroretinal disorder, mortality, visual impairment (visual acuity 20/50 or worse), and blindness (20/200 or worse) on logarithmic visual acuity charts. Results Sixteen percent of participants had HIV-neuroretinal disorder at enrollment. The estimated cumulative incidence by 20 years after AIDS diagnosis was 51% (95% confidence interval [CI] 46%–55%). HIV-neuroretinal disorder was more common in women and African American persons. Risk factors for it included hepatitis C infection, low CD4+ T cells, and detectable HIV RNA in the blood. Patients with HIV neuroretinal disorder had a 70% excess mortality vs. those without it, even after adjusting for CD4+ T cells and HIV load (hazard ratio=1.7, 95% CI= 1.3–2.1, P<0.0001). Patients with HIV-neuroretinal disorder had increased risks of bilateral visual impairment (hazard ratio=6.5, 95% CI=2.6–10.6, P<0.0001) and blindness (hazard ratio=5.9, 95% CI=2.8–13.7, P=0.01) vs. those without HIV neuroretinal disorder. Conclusions HIV-neuroretinal disorder is a common finding among patients with AIDS, and it is associated with an increased mortality and an increased

  16. Sexual Orientation and Gender as Factors in Socioculturally Acquired Vulnerability to Body Dissatisfaction and Eating Disorders.

    ERIC Educational Resources Information Center

    Siever, Michael D.

    1994-01-01

    Investigated hypothesis that gay men and heterosexual women are dissatisfied with their bodies and vulnerable to eating disorders because of shared emphasis on physical attractiveness and thinness based on desire to please men. Findings from 53 lesbian, 59 gay, 62 heterosexual female, and 63 heterosexual male college students generally confirmed…

  17. Acquired von Willebrand syndrome: an underdiagnosed and misdiagnosed bleeding complication in patients with lymphoproliferative and myeloproliferative disorders.

    PubMed

    Federici, Augusto B

    2006-01-01

    Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder with laboratory findings similar to those for congenital von Willebrand disease (VWD). Unlike the congenital disease, AVWS usually occurs in individuals with no personal or family history of bleeding. The prevalence of AVWS in the general population is unknown because data from large prospective studies of this syndrome are not available. Although AVWS is particularly frequent in lymphoproliferative or myeloproliferative disorders, it can also be associated with solid tumors, immunologic and cardiovascular disorders, and other miscellaneous conditions. Diagnosis of AVWS is based on assays measuring the activity of von Willebrand factor (VWF). This tends to be abnormally low, but factor VIII (FVIII) coagulant activity can sometimes be normal. FVIII/VWF inhibiting activity is found in only a minority of cases. Bleeding episodes in patients with AVWS are mostly of the mucocutaneous type and can be managed with desmopressin, plasma-derived FVIII/VWF concentrates, and intravenous immunoglobulin (IVIg). Recombinant activated factor VII can be useful in patients unresponsive to standard therapy. An updated version of the International Registry on AVWS, recently available online, will provide more information on this rare, but underdiagnosed and misdiagnosed, disorder. PMID:16427386

  18. Acquiring a Pet Dog Significantly Reduces Stress of Primary Carers for Children with Autism Spectrum Disorder: A Prospective Case Control Study

    ERIC Educational Resources Information Center

    Wright, H. F.; Hall, S.; Hames, A.; Hardiman, J.; Mills, R.; Mills, D. S.

    2015-01-01

    This study describes the impact of pet dogs on stress of primary carers of children with Autism Spectrum Disorder (ASD). Stress levels of 38 primary carers acquiring a dog and 24 controls not acquiring a dog were sampled at: Pre-intervention (17 weeks before acquiring a dog), post-intervention (3-10 weeks after acquisition) and follow-up…

  19. Management of developmental speech and language disorders. Part 2: acquired conditions.

    PubMed

    O'Hare, Anne

    2016-03-01

    Many children who present with these acquired impairments of communication have a clear preceding event such as an acquired brain injury from a road traffic accident. Children often respond differently in this situation to adult presentations. They may have a period of mutism when the prognosis might look poor and yet they subsequently make rapid progress and recover speech. They have greater potential for neural plasticity and language recovery, although they often have persisting difficulties in oral and written language. Alternatively, there may be a presentation with a paroxysmal event such as a seizure or a period of depressed consciousness, and the unusual behaviour that may accompany dysphasia and dysarthria may be misinterpreted in the child, whereas for the adult with the more common 'stroke-like' presentation, it would be immediately considered. Rarely the aphasia/dysphasia may itself be the paroxysmal event where actually recognising that the child's disrupted communication is the basis of any observed behaviours can be the greater challenge. PMID:25990500

  20. The anatomical foundations of acquired reading disorders: a neuropsychological verification of the dual-route model of reading.

    PubMed

    Ripamonti, E; Aggujaro, S; Molteni, F; Zonca, G; Frustaci, M; Luzzatti, C

    2014-07-01

    In this study we investigated the neural correlates of acquired reading disorders through an anatomo-correlative procedure of the lesions of 59 focal brain damaged patients suffering from acquired surface, phonological, deep, undifferentiated dyslexia and pure alexia. Two reading tasks, one of words and nonwords and one of words with unpredictable stress position, were used for this study. We found that surface dyslexia was predominantly associated with left temporal lesions, while in phonological dyslexia the lesions overlapped in the left insula and the left inferior frontal gyrus (pars opercularis) and that pure alexia was associated with lesions in the left fusiform gyrus. A number of areas and white matter tracts, which seemed to involve processing along both the lexical and the sublexical routes, were identified for undifferentiated dyslexia. Two cases of deep dyslexia with relatively dissimilar anatomical correlates were studied, one compatible with Coltheart's right-hemisphere hypothesis (1980) whereas the other could be interpreted in the context of Morton and Patterson's (1980), multiply-damaged left-hemisphere hypothesis. In brief, the results of this study are only partially consistent with the current state of the art, and propose new and stimulating challenges; indeed, based on these results we suggest that different types of acquired dyslexia may ensue after different cortical damage, but white matter disconnection may play a crucial role in some cases. PMID:24815949

  1. Molecular Characterization of Streptococcus agalactiae Causing Community- and Hospital-Acquired Infections in Shanghai, China

    PubMed Central

    Jiang, Haoqin; Chen, Mingliang; Li, Tianming; Liu, Hong; Gong, Ye; Li, Min

    2016-01-01

    Streptococcus agalactiae, a colonizing agent in pregnant women and the main cause of neonatal sepsis and meningitis, has been increasingly associated with invasive disease in nonpregnant adults. We collected a total of 87 non-repetitive S. agalactiae isolates causing community-acquired (CA) and hospital-acquired (HA) infections in nonpregnant adults from a teaching hospital in Shanghai between 2009 and 2013. We identified and characterized their antibiotic resistance, sequence type (ST), serotype, virulence, and biofilm formation. The most frequent STs were ST19 (29.9%), ST23 (16.1%), ST12 (13.8%), and ST1 (12.6%). ST19 had significantly different distributions between CA- and HA-group B Streptococci (GBS) isolates. The most frequent serotypes were III (32.2%), Ia (26.4%), V (14.9%), Ib (13.8%), and II (5.7%). Serotype III/ST19 was significantly associated with levofloxacin resistance in all isoates. The HA-GBS multidrug resistant rate was much higher than that of CA-GBS. Virulence genes pavA, cfb were found in all isolates. Strong correlations exist between serotype Ib (CA and HA) and surface protein genes spb1 and bac, serotype III (HA) and surface protein gene cps and GBS pilus cluster. The serotype, epidemic clone, PFGE-based genotype, and virulence gene are closely related between CA-GBS and HA-GBS, and certain serotypes and clone types were significantly associated with antibiotic resistance. However, CA-GBS and HA-GBS still had significant differences in their distribution of clone types, antibiotic resistance, and specific virulence genes, which may provide a basis for infection control. PMID:27625635

  2. Molecular Characterization of Streptococcus agalactiae Causing Community- and Hospital-Acquired Infections in Shanghai, China.

    PubMed

    Jiang, Haoqin; Chen, Mingliang; Li, Tianming; Liu, Hong; Gong, Ye; Li, Min

    2016-01-01

    Streptococcus agalactiae, a colonizing agent in pregnant women and the main cause of neonatal sepsis and meningitis, has been increasingly associated with invasive disease in nonpregnant adults. We collected a total of 87 non-repetitive S. agalactiae isolates causing community-acquired (CA) and hospital-acquired (HA) infections in nonpregnant adults from a teaching hospital in Shanghai between 2009 and 2013. We identified and characterized their antibiotic resistance, sequence type (ST), serotype, virulence, and biofilm formation. The most frequent STs were ST19 (29.9%), ST23 (16.1%), ST12 (13.8%), and ST1 (12.6%). ST19 had significantly different distributions between CA- and HA-group B Streptococci (GBS) isolates. The most frequent serotypes were III (32.2%), Ia (26.4%), V (14.9%), Ib (13.8%), and II (5.7%). Serotype III/ST19 was significantly associated with levofloxacin resistance in all isoates. The HA-GBS multidrug resistant rate was much higher than that of CA-GBS. Virulence genes pavA, cfb were found in all isolates. Strong correlations exist between serotype Ib (CA and HA) and surface protein genes spb1 and bac, serotype III (HA) and surface protein gene cps and GBS pilus cluster. The serotype, epidemic clone, PFGE-based genotype, and virulence gene are closely related between CA-GBS and HA-GBS, and certain serotypes and clone types were significantly associated with antibiotic resistance. However, CA-GBS and HA-GBS still had significant differences in their distribution of clone types, antibiotic resistance, and specific virulence genes, which may provide a basis for infection control. PMID:27625635

  3. Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders

    PubMed Central

    Ye, Zhaohui; Zhan, Huichun; Mali, Prashant; Dowey, Sarah; Williams, Donna M.; Jang, Yoon-Young; Dang, Chi V.; Spivak, Jerry L.; Moliterno, Alison R.

    2009-01-01

    Human induced pluripotent stem (iPS) cells derived from somatic cells hold promise to develop novel patient-specific cell therapies and research models for inherited and acquired diseases. We and others previously reprogrammed human adherent cells, such as postnatal fibroblasts to iPS cells, which resemble adherent embryonic stem cells. Here we report derivation of iPS cells from postnatal human blood cells and the potential of these pluripotent cells for disease modeling. Multiple human iPS cell lines were generated from previously frozen cord blood or adult CD34+ cells of healthy donors, and could be redirected to hematopoietic differentiation. Multiple iPS cell lines were also generated from peripheral blood CD34+ cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells. The MPD-derived iPS cells containing the mutation appeared normal in phenotypes, karyotype, and pluripotency. After directed hematopoietic differentiation, the MPD-iPS cell-derived hematopoietic progenitor (CD34+CD45+) cells showed the increased erythropoiesis and gene expression of specific genes, recapitulating features of the primary CD34+ cells of the corresponding patient from whom the iPS cells were derived. These iPS cells provide a renewable cell source and a prospective hematopoiesis model for investigating MPD pathogenesis. PMID:19797525

  4. Quantitative proteome-based guidelines for intrinsic disorder characterization.

    PubMed

    Vincent, Michael; Whidden, Mark; Schnell, Santiago

    2016-06-01

    Intrinsically disordered proteins fail to adopt a stable three-dimensional structure under physiological conditions. It is now understood that many disordered proteins are not dysfunctional, but instead engage in numerous cellular processes, including signaling and regulation. Disorder characterization from amino acid sequence relies on computational disorder prediction algorithms. While numerous large-scale investigations of disorder have been performed using these algorithms, and have offered valuable insight regarding the prevalence of protein disorder in many organisms, critical proteome-based descriptive statistical guidelines that would enable the objective assessment of intrinsic disorder in a protein of interest remain to be established. Here we present a quantitative characterization of numerous disorder features using a rigorous non-parametric statistical approach, providing expected values and percentile cutoffs for each feature in ten eukaryotic proteomes. Our estimates utilize multiple ab initio disorder prediction algorithms grounded on physicochemical principles. Furthermore, we present novel threshold values, specific to both the prediction algorithms and the proteomes, defining the longest primary sequence length in which the significance of a continuous disordered region can be evaluated on the basis of length alone. The guidelines presented here are intended to improve the interpretation of disorder content and continuous disorder predictions from the proteomic point of view. PMID:27085142

  5. Characterizing the continuously acquired cardiovascular time series during hemodialysis, using median hybrid filter preprocessing noise reduction

    PubMed Central

    Wilson, Scott; Bowyer, Andrea; Harrap, Stephen B

    2015-01-01

    The clinical characterization of cardiovascular dynamics during hemodialysis (HD) has important pathophysiological implications in terms of diagnostic, cardiovascular risk assessment, and treatment efficacy perspectives. Currently the diagnosis of significant intradialytic systolic blood pressure (SBP) changes among HD patients is imprecise and opportunistic, reliant upon the presence of hypotensive symptoms in conjunction with coincident but isolated noninvasive brachial cuff blood pressure (NIBP) readings. Considering hemodynamic variables as a time series makes a continuous recording approach more desirable than intermittent measures; however, in the clinical environment, the data signal is susceptible to corruption due to both impulsive and Gaussian-type noise. Signal preprocessing is an attractive solution to this problem. Prospectively collected continuous noninvasive SBP data over the short-break intradialytic period in ten patients was preprocessed using a novel median hybrid filter (MHF) algorithm and compared with 50 time-coincident pairs of intradialytic NIBP measures from routine HD practice. The median hybrid preprocessing technique for continuously acquired cardiovascular data yielded a dynamic regression without significant noise and artifact, suitable for high-level profiling of time-dependent SBP behavior. Signal accuracy is highly comparable with standard NIBP measurement, with the added clinical benefit of dynamic real-time hemodynamic information. PMID:25678827

  6. Acquired cystic disease-associated renal cell carcinoma: further characterization of the morphologic and immunopathologic features.

    PubMed

    Ahn, Soomin; Kwon, Ghee Young; Cho, Yong Mee; Jun, Sun-Young; Choi, Chan; Kim, Hyun-Jung; Park, Yong Wook; Park, Weon Seo; Shim, Jung Won

    2013-12-01

    Acquired cystic disease-associated renal cell carcinoma (ACD-RCC) is a subtype of renal cell carcinoma (RCC) with unique morphologic features found exclusively in the background of end-stage renal disease. We analyzed the clinicopathologic features and immumoreactive profiles of 12 cases of ACD-RCC to further characterize this recently recognized entity. Review of histologic slides was performed in conjunction with immunohistochemical staining directed to the contemporary diagnostic antibodies and the putative target therapy-related markers. Histologically, the tumors showed characteristic inter-or intracellular microlumens and eosinophilic tumor cells. Intratumoral hemosiderin deposition and degenerating foamy tumor cells were consistent findings which were not previously described. Immunohistochemically, all the tumors were positive for alpha-methylacyl-CoA-racemase, CD10, pan-cytokeratin, PTEN (phosphatase and tensin homolog deleted on chromosome 10) and c-met, while negative for carbonic anhydrase-9, CD57, CD68, c-kit, pax-2, platelet-derived growth factor receptor (PDGFR)-α or vascular endothelial growth factor receptor (VEGFR)-2. Heterogenous staining was found for CK7 and kidney-specific cadherin. Positive reaction to c-met suggests its utility as a plausible therapeutic target in ACD-RCC. Thus, we present the unique morphologic and immunopathologic features of ACD-RCC, which may be helpful in both diagnostic and therapeutic aspects. PMID:23471757

  7. Inherited, congenital and acquired disorders by hemostasis (vascular, platelet & plasmatic phases) with repercussions in the therapeutic oral sphere

    PubMed Central

    Arrieta-Blanco, Juan J.; Martínez-López, Federico; Oñate-Cabrerizo, Daniel; Cabrerizo-Merino, Maria C.

    2014-01-01

    The hemostasis alterations, either congenital or hereditary origin, and acquired, are circumstances that hinder oral care to patients who suffer them and also generates in the professional who has to attend, high stress. Bleeding control once established and dental treatment planning, both in the aspect of preparation, as the realization of the odonto-stomatological therapeutic, has suffered updates that do need to remember certain aspects of the care of these patients. But we must not forget that the hematologist or internist who controls the patient’s medical condition, is a cornerstone for the planning and implementation of treatment plans. We must also remember that, in certain circumstances, treatment should be performed in a hospital setting. In this review, we aim to provide the odonto-stomatologist guidance on how to address the problem and provide simple and updated guidelines to apply in the treatment of these people. Key words:Hemostasis disorder, oral care protocols, haemorrhagic and thrombotic disorders, haemophilia, von willebrand disease, desmopressin, purple, thrombocytopenia, thrombocytopathies. PMID:24121923

  8. Acquired Language Disorders.

    ERIC Educational Resources Information Center

    Raymer, Anastasia M.

    2001-01-01

    This article discusses advances in structural and functional neuroimaging that indicate that, in general, nonfluent aphasias are associated with left pre-rolandic lesions and fluent aphasias occur with left post-rolandic lesions that spare pre-rolandic areas. However, functional neuroimaging studies have also shown that neural dysfunction often…

  9. Additional Evidence Is Needed to Recommend Acquiring a Dog to Families of Children with Autism Spectrum Disorder: A Response to Wright and Colleagues

    ERIC Educational Resources Information Center

    Crossman, Molly K.; Kazdin, Alan E.

    2016-01-01

    Caregivers of children with autism spectrum disorder are vulnerable to overstated benefits of interventions, and such overstatements are common with interventions involving animals. This response to Wright, Hall, Hames, Hardmin, Mills, the Paws Team, and Mills' (2015) article, "Acquiring a Pet Dog Significantly Reduces Stress of Primary…

  10. Acquired reactive perforating collagenosis.

    PubMed

    Basak, P Y; Turkmen, C

    2001-01-01

    Acquired perforating disorder has been recognized as an uncommon distinct dermatosis in which altered collagen is eliminated through the epidermis. Several disorders accompanied by itching and scratching were reported to be associated with reactive perforating collagenosis. A 67-year-old white woman diagnosed as acquired reactive perforating collagenosis with poorly controlled diabetes mellitus and congestive cardiac failure is presented. PMID:11525959

  11. Characterization of in vivo-acquired resistance to macrolides of Mycoplasma gallisepticum strains isolated from poultry

    PubMed Central

    2011-01-01

    The macrolide class of antibiotics, including tylosin and tilmicosin, is widely used in the veterinary field for prophylaxis and treatment of mycoplasmosis. In vitro susceptibility testing of 50 strains of M. gallisepticum isolated in Israel during the period 1997-2010 revealed that acquired resistance to tylosin as well as to tilmicosin was present in 50% of them. Moreover, 72% (13/18) of the strains isolated from clinical samples since 2006 showed acquired resistance to enrofloxacin, tylosin and tilmicosin. Molecular typing of the field isolates, performed by gene-target sequencing (GTS), detected 13 molecular types (I-XIII). Type II was the predominant type prior to 2006 whereas type X, first detected in 2008, is currently prevalent. All ten type X strains were resistant to both fluoroquinolones and macrolides, suggesting selective pressure leading to clonal dissemination of resistance. However, this was not a unique event since resistant strains with other GTS molecular types were also found. Concurrently, the molecular basis for macrolide resistance in M. gallisepticum was identified. Our results revealed a clear-cut correlation between single point mutations A2058G or A2059G in domain V of the gene encoding 23S rRNA (rrnA, MGA_01) and acquired macrolide resistance in M. gallisepticum. Indeed, all isolates with MIC ≥ 0.63 μg/mL to tylosin and with MIC ≥ 1.25 μg/mL to tilmicosin possess one of these mutations, suggesting an essential role in decreased susceptibility of M. gallisepticum to 16-membered macrolides. PMID:21810258

  12. Characterization of in vivo-acquired resistance to macrolides of Mycoplasma gallisepticum strains isolated from poultry.

    PubMed

    Gerchman, Irena; Levisohn, Sharon; Mikula, Inna; Manso-Silván, Lucía; Lysnyansky, Inna

    2011-01-01

    The macrolide class of antibiotics, including tylosin and tilmicosin, is widely used in the veterinary field for prophylaxis and treatment of mycoplasmosis. In vitro susceptibility testing of 50 strains of M. gallisepticum isolated in Israel during the period 1997-2010 revealed that acquired resistance to tylosin as well as to tilmicosin was present in 50% of them. Moreover, 72% (13/18) of the strains isolated from clinical samples since 2006 showed acquired resistance to enrofloxacin, tylosin and tilmicosin. Molecular typing of the field isolates, performed by gene-target sequencing (GTS), detected 13 molecular types (I-XIII). Type II was the predominant type prior to 2006 whereas type X, first detected in 2008, is currently prevalent. All ten type X strains were resistant to both fluoroquinolones and macrolides, suggesting selective pressure leading to clonal dissemination of resistance. However, this was not a unique event since resistant strains with other GTS molecular types were also found. Concurrently, the molecular basis for macrolide resistance in M. gallisepticum was identified. Our results revealed a clear-cut correlation between single point mutations A2058G or A2059G in domain V of the gene encoding 23S rRNA (rrnA, MGA_01) and acquired macrolide resistance in M. gallisepticum. Indeed, all isolates with MIC ≥ 0.63 μg/mL to tylosin and with MIC ≥ 1.25 μg/mL to tilmicosin possess one of these mutations, suggesting an essential role in decreased susceptibility of M. gallisepticum to 16-membered macrolides. PMID:21810258

  13. Assessment of the best flow model to characterize diffuse correlation spectroscopy data acquired directly on the brain.

    PubMed

    Verdecchia, Kyle; Diop, Mamadou; Morrison, Laura B; Lee, Ting-Yim; St Lawrence, Keith

    2015-11-01

    Diffuse correlation spectroscopy (DCS) is a non-invasive optical technique capable of monitoring tissue perfusion. The normalized temporal intensity autocorrelation function generated by DCS is typically characterized by assuming that the movement of erythrocytes can be modeled as a Brownian diffusion-like process instead of by the expected random flow model. Recently, a hybrid model, referred to as the hydrodynamic diffusion model, was proposed, which combines the random and Brownian flow models. The purpose of this study was to investigate the best model to describe autocorrelation functions acquired directly on the brain in order to avoid confounding effects of extracerebral tissues. Data were acquired from 11 pigs during normocapnia and hypocapnia, and flow changes were verified by computed tomography perfusion (CTP). The hydrodynamic diffusion model was found to provide the best fit to the autocorrelation functions; however, no significant difference for relative flow changes measured by the Brownian and hydrodynamic diffusion models was observed. PMID:26600995

  14. Characterization of a human colorectal carcinoma cell line with acquired resistance to flavopiridol.

    PubMed

    Smith, V; Raynaud, F; Workman, P; Kelland, L R

    2001-11-01

    Flavopiridol is a broad-spectrum inhibitor of cyclin-dependent kinases (cdks) and represents the first in this anticancer class to enter clinical trials. In anticipation of the likelihood that, as with other cancer drugs, acquired resistance may limit the drug's efficacy, an acquired resistance model has been established by in vitro drug exposure of the human colon carcinoma cell line HCT116. This stably resistant line, possessing 8-fold resistance to flavopiridol, showed a lack of cross-resistance to the anticancer agents etoposide, doxorubicin, paclitaxel, topotecan, and cisplatin, and notably to other chemical classes of cdk inhibitors: the aminopurines roscovitine and purvalanol A, 9-nitropaullone, and hymenialdisine. Resistance did not seem to be related to differences in the levels of multidrug resistance drug efflux proteins, P-glycoprotein, and MRP1. Moreover, there were no changes in overall drug accumulation between the resistant and sensitive cell lines. Flavopiridol induced cell cycle arrest, apoptosis, and inhibition of retinoblastoma gene product phosphorylation on serine 780 in both parental and resistant lines, but the latter required 8-fold higher concentrations to achieve these effects. Cyclin E protein levels and cyclin E-associated kinase activity were increased in the resistant line, suggesting that overexpression of cyclin E may be the mechanism of resistance to flavopiridol. However, transfection of cyclin E to increase expression of this protein did not result in an increase in resistance to flavopiridol. Thus, up-regulation of cyclin E alone does not seem to cause resistance to this cdk inhibitor. PMID:11641415

  15. Acquiring a Pet Dog Significantly Reduces Stress of Primary Carers for Children with Autism Spectrum Disorder: A Prospective Case Control Study.

    PubMed

    Wright, H F; Hall, S; Hames, A; Hardiman, J; Mills, R; Mills, D S

    2015-08-01

    This study describes the impact of pet dogs on stress of primary carers of children with Autism Spectrum Disorder (ASD). Stress levels of 38 primary carers acquiring a dog and 24 controls not acquiring a dog were sampled at: Pre-intervention (17 weeks before acquiring a dog), post-intervention (3-10 weeks after acquisition) and follow-up (25-40 weeks after acquisition), using the Parenting Stress Index. Analysis revealed significant improvements in the intervention compared to the control group for Total Stress, Parental Distress and Difficult Child. A significant number of parents in the intervention group moved from clinically high to normal levels of Parental Distress. The results highlight the potential of pet dogs to reduce stress in primary carers of children with an ASD. PMID:25832799

  16. Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization

    PubMed Central

    Frías, Álvaro; Palma, Carol; Farriols, Núria; González, Laura

    2015-01-01

    Background With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category. Objective We aimed to determine the empirical evidence regarding the potential relationship between BDD and obsessive-compulsive disorder (OCD) based on the prevalence data, etiopathogenic pathways, and clinical characterization of patients with both disorders. Method A comprehensive search of databases (PubMed and PsycINFO) was performed. Published manuscripts between 1985 and May 2015 were identified. Overall, 53 studies fulfilled inclusion criteria. Results Lifetime comorbidity rates of BDD–OCD are almost three times higher in samples with a primary diagnosis of BDD than those with primary OCD (27.5% vs 10.4%). However, other mental disorders, such as social phobia or major mood depression, are more likely among both types of psychiatric samples. Empirical evidence regarding the etiopathogenic pathways for BDD–OCD comorbidity is still inconclusive, whether concerning common shared features or one disorder as a risk factor for the other. Specifically, current findings concerning third variables show more divergences than similarities when comparing both disorders. Preliminary data on the clinical characterization of the patients with BDD and OCD indicate that the deleterious clinical impact of BDD in OCD patients is greater than vice versa. Conclusion Despite the recent inclusion of BDD within the OCDRD, data from comparative studies between BDD and OCD need further evidence for supporting this nosological approach. To better define this issue, comparative studies between BDD, OCD, and social phobia should be carried out. PMID:26345330

  17. Molecular Characterization of Acquired Tolerance of Tumor Cells to Picropodophyllin (PPP)

    PubMed Central

    Hashemi, Jamileh; Worrall, Claire; Vasilcanu, Daiana; Fryknäs, Mårten; Sulaiman, Luqman; Karimi, Mohsen; Weng, Wen-Hui; Lui, Weng-Onn; Rudduck, Christina; Axelson, Magnus; Jernberg-Wiklund, Helena; Girnita, Leonard; Larsson, Olle; Larsson, Catharina

    2011-01-01

    Background Picropodophyllin (PPP) is a promising novel anti-neoplastic agent that efficiently kills tumor cells in vitro and causes tumor regression and increased survival in vivo. We have previously reported that PPP treatment induced moderate tolerance in two out of 10 cell lines only, and here report the acquired genomic and expression alterations associated with PPP selection over 1.5 years of treatment. Methodology/Principal Findings Copy number alterations monitored using metaphase and array-based comparative genomic hybridization analyses revealed largely overlapping alterations in parental and maximally tolerant cells. Gain/ amplification of the MYC and PVT1 loci in 8q24.21 were verified on the chromosome level. Abnormalities observed in connection to PPP treatment included regular gains and losses, as well as homozygous losses in 10q24.1-q24.2 and 12p12.3-p13.2 in one of the lines and amplification at 5q11.2 in the other. Abnormalities observed in both tolerant derivatives include amplification/gain of 5q11.2, gain of 11q12.1-q14.3 and gain of 13q33.3-qter. Using Nexus software analysis we combined the array-CGH data with data from gene expression profilings and identified genes that were altered in both inputs. A subset of genes identified as downregulated (ALDH1A3, ANXA1, TLR4 and RAB5A) or upregulated (COX6A1, NFIX, ME1, MAPK and TAP2) were validated by siRNA in the tolerant or parental cells to alter sensitivity to PPP and confirmed to alter sensitivity to PPP in further cell lines. Conclusions Long-term PPP selection lead to altered gene expression in PPP tolerant cells with increase as well as decrease of genes involved in cell death such as PTEN and BCL2. In addition, acquired genomic copy number alterations were observed that were often reflected by altered mRNA expression levels for genes in the same regions. PMID:21423728

  18. Effects of Presentation Rate and Divided Attention on Auditory Comprehension in Children with an Acquired Language Disorder.

    ERIC Educational Resources Information Center

    Campbell, Thomas F.; McNeil, Malcolm R.

    1985-01-01

    Seven children (8-12 years old) with language disorders associated with convulsive disorders participated in two divided-attention tasks in which pairs of sentences were presented simultaneously. Results showed that slowing presentation of the primary sentences significantly improved performance on secondary sentences, even though secondary…

  19. Promoting Adaptive Behavior in Persons with Acquired Brain Injury, Extensive Motor and Communication Disabilities, and Consciousness Disorders

    ERIC Educational Resources Information Center

    Lancioni, Giulio E.; Singh, Nirbhay N.; O'Reilly, Mark F.; Sigafoos, Jeff; Belardinelli, Marta Olivetti; Buonocunto, Francesca; Sacco, Valentina; Navarro, Jorge; Lanzilotti, Crocifissa; De Tommaso, Marina; Megna, Marisa; Badagliacca, Francesco

    2012-01-01

    These two studies extended the evidence on the use of technology-based intervention packages to promote adaptive behavior in persons with acquired brain injury and multiple disabilities. Study I involved five participants in a minimally conscious state who were provided with intervention packages based on specific arrangements of optic, tilt, or…

  20. Additional Evidence is Needed to Recommend Acquiring a Dog to Families of Children with Autism Spectrum Disorder: A Response to Wright and Colleagues.

    PubMed

    Crossman, Molly K; Kazdin, Alan E

    2016-01-01

    Caregivers of children with autism spectrum disorder are vulnerable to overstated benefits of interventions, and such overstatements are common with interventions involving animals. This response to Wright, Hall, Hames, Hardmin, Mills, the Paws Team, and Mills' (2015) article, "Acquiring a Pet Dog Significantly Reduces Stress of Primary Careers for Children with Autism Spectrum Disorder: A Prospective Case Control Study," details why that study's conclusions are premature. Specific limitations of the study are detailed, including overstatements of the supportive literature, problems with the design, and mismatch between the findings and conclusions. The purpose is not to challenge the benefits of pet ownership, but to point out that those benefits have not yet been established. PMID:26231204

  1. Free energy contributions and structural characterization of stacking disordered ices.

    PubMed

    Hudait, Arpa; Qiu, Siwei; Lupi, Laura; Molinero, Valeria

    2016-04-14

    Crystallization of ice from deeply supercooled water and amorphous ices - a process of fundamental importance in the atmosphere, interstellar space, and cryobiology - results in stacking disordered ices with a wide range of metastabilities with respect to hexagonal ice. The structural origin of this high variability, however, has not yet been elucidated. Here we use molecular dynamics simulations with the mW water model to characterize the structure of ice freshly grown from supercooled water at temperatures from 210 to 270 K, the thermodynamics of stacking faults, line defects, and interfaces, and to elucidate the interplay between kinetics and thermodynamics in determining the structure of ice. In agreement with experiments, the ice grown in the simulations is stacking disordered with a random distribution of cubic and hexagonal layers, and a cubicity that decreases with growth temperature. The former implies that the cubicity of ice is determined by processes at the ice/liquid interface, without memory of the structure of buried ice layers. The latter indicates that the probability of building a cubic layer at the interface decreases upon approaching the melting point of ice, which we attribute to a more efficient structural equilibration of ice at the liquid interface as the driving force for growth wanes. The free energy cost for creating a pair of cubic layers in ice is 8.0 J mol(-1) in experiments, and 9.7 ± 1.9 J mol(-1) for the mW water model. This not only validates the simulations, but also indicates that dispersion in cubicity is not sufficient to explain the large energetic variability of stacking disordered ices. We compute the free energy cost of stacking disorder, line defects, and interfaces in ice and conclude that a characterization of the density of these defects is required to predict the degree of metastability and vapor pressure of atmospheric ices. PMID:26983558

  2. Inherited, congenital and acquired disorders by hemostasis (vascular, platelet & plasmatic phases) with repercussions in the therapeutic oral sphere.

    PubMed

    Arrieta-Blanco, Juan-José; Oñate-Sánchez, Ricardo; Martínez-López, Federico; Oñate-Cabrerizo, Daniel; Cabrerizo-Merino, Maria-del Carmen

    2014-05-01

    The hemostasis alterations, either congenital or hereditary origin, and acquired, are circumstances that hinder oral care to patients who suffer them and also generates in the professional who has to attend, high stress. Bleeding control once established and dental treatment planning, both in the aspect of preparation, as the realization of the odonto-stomatological therapeutic, has suffered updates that do need to remember certain aspects of the care of these patients. But we must not forget that the hematologist or internist who controls the patient's medical condition, is a cornerstone for the planning and implementation of treatment plans. We must also remember that, in certain circumstances, treatment should be performed in a hospital setting. In this review, we aim to provide the odonto-stomatologist guidance on how to address the problem and provide simple and updated guidelines to apply in the treatment of these people. PMID:24121923

  3. Acquired cutis laxa associated with cutaneous mastocytosis.

    PubMed

    Hoang, Minh Van; Dang, Phuoc Van; Bui, Duc Van; Mejbel, Haider; Mani, Divya Thomas; Smoller, Bruce Robert; Phung, Thuy Linh

    2015-07-01

    Cutis laxa is characterized by dramatic wrinkling of skin that is lacking in elasticity due to inherent defects in dermal elastic fibers. Cutis laxa can be caused by genetic and metabolic disorders. It can also be acquired, possibly resulting from inflammatory processes with destruction of elastic fibers. This report describes a 26-year old woman who developed acquired cutis laxa and cutaneous mastocytosis leading to premature aging. She represents a unique co-occurrence of these two separate disease entities. To our knowledge, there has been only one published case report of acquired cutis laxa occurring in association with urticaria pigmentosa in a 4-year old girl. Our case would be a second case that exhibits the coexistence of these two disorders in an adult female. PMID:26436968

  4. Characterization of SLITRK1 variation in obsessive-compulsive disorder.

    PubMed

    Ozomaro, Uzoezi; Cai, Guiqing; Kajiwara, Yuji; Yoon, Seungtai; Makarov, Vladimir; Delorme, Richard; Betancur, Catalina; Ruhrmann, Stephan; Falkai, Peter; Grabe, Hans Jörgen; Maier, Wolfgang; Wagner, Michael; Lennertz, Leonhard; Moessner, Rainald; Murphy, Dennis L; Buxbaum, Joseph D; Züchner, Stephan; Grice, Dorothy E

    2013-01-01

    Obsessive compulsive disorder (OCD) is a syndrome characterized by recurrent and intrusive thoughts and ritualistic behaviors or mental acts that a person feels compelled to perform. Twin studies, family studies, and segregation analyses provide compelling evidence that OCD has a strong genetic component. The SLITRK1 gene encodes a developmentally regulated stimulator of neurite outgrowth and previous studies have implicated rare variants in this gene in disorders in the OC spectrum, specifically Tourette syndrome (TS) and trichotillomania (TTM). The objective of the current study was to evaluate rare genetic variation in SLITRK1 in risk for OCD and to functionally characterize associated coding variants. We sequenced SLITRK1 coding exons in 381 individuals with OCD as well as in 356 control samples and identified three novel variants in seven individuals. We found that the combined mutation load in OCD relative to controls was significant (p = 0.036). We identified a missense N400I change in an individual with OCD, which was not found in more than 1000 control samples (P<0.05). In addition, we showed the the N400I variant failed to enhance neurite outgrowth in primary neuronal cultures, in contrast to wildtype SLITRK1, which enhanced neurite outgrowth in this assay. These important functional differences in the N400I variant, as compared to the wildtype SLITRK1 sequence, may contribute to OCD and OC spectrum symptoms. A synonymous L63L change identified in an individual with OCD and an additional missense change, T418S, was found in four individuals with OCD and in one individual without an OCD spectrum disorder. Examination of additional samples will help assess the role of rare SLITRK1 variation in OCD and in related psychiatric illness. PMID:23990902

  5. [Acquired von Willebrand syndrome].

    PubMed

    Franchini, Massimo

    2006-01-01

    Acquired von Willebrand syndrome (aVWS) is a rare, but probably underestimated, bleeding disorder that mimics the congenital form of von Willebrand disease (VWD) in terms of laboratory findings and clinical presentation. However, unlike congenital VWD, it arises in individuals with no personal or family history of bleeding. AVWS occurs in association with a variety of underlying disorders, including lymphoproliferative disorders, myeloproliferative disorders and cardiovascular diseases. The main pathogenic, clinical, laboratory and therapeutic aspects of this syndrome are concisely reported in this review. PMID:16913181

  6. Molecular Detection and Characterization of Mycoplasma pneumoniae Among Patients Hospitalized With Community-Acquired Pneumonia in the United States.

    PubMed

    Diaz, Maureen H; Benitez, Alvaro J; Cross, Kristen E; Hicks, Lauri A; Kutty, Preeta; Bramley, Anna M; Chappell, James D; Hymas, Weston; Patel, Anami; Qi, Chao; Williams, Derek J; Arnold, Sandra R; Ampofo, Krow; Self, Wesley H; Grijalva, Carlos G; Anderson, Evan J; McCullers, Jonathan A; Pavia, Andrew T; Wunderink, Richard G; Edwards, Kathryn M; Jain, Seema; Winchell, Jonas M

    2015-09-01

    Background.  Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP). The molecular characteristics of M pneumoniae detected in patients hospitalized with CAP in the United States are poorly described. Methods.  We performed molecular characterization of M pneumoniae in nasopharyngeal/oropharyngeal swabs from children and adults hospitalized with CAP in the Centers for Disease Control and Prevention Etiology of Pneumonia in the Community (EPIC) study, including P1 typing, multilocus variable-number tandem-repeat analysis (MLVA), and macrolide susceptibility genotyping. Results.  Of 216 M pneumoniae polymerase chain reaction-positive specimens, 40 (18.5%) were obtained from adults and 176 (81.5%) from children. P1 type distribution differed between adults (64% type 1 and 36% type 2) and children (84% type 1, 13% type 2, and 3% variant) (P < .05) and among sites (P < .01). Significant differences in the proportions of MLVA types 4/5/7/2 and 3/5/6/2 were also observed by age group (P < .01) and site (P < .01). A macrolide-resistant genotype was identified in 7 (3.5%) specimens, 5 of which were from patients who had recently received macrolide therapy. No significant differences in clinical characteristics were identified among patients with various strain types or between macrolide-resistant and -sensitive M pneumoniae infections. Conclusions.  The P1 type 1 genotype and MLVA type 4/5/7/2 predominated, but there were differences between children and adults and among sites. Macrolide resistance was rare. Differences in strain types did not appear to be associated with differences in clinical outcomes. Whole genome sequencing of M pneumoniae may help identify better ways to characterize strains. PMID:26284257

  7. Is liability to recurrent major depressive disorder present before first episode onset in adolescence or acquired after the initial episode?

    PubMed

    Pettit, Jeremy W; Hartley, Chelsey; Lewinsohn, Peter M; Seeley, John R; Klein, Daniel N

    2013-05-01

    Many individuals who experience a major depressive episode will subsequently develop recurrent episodes. Although numerous studies have investigated predictors of recurrent episodes, methodological limitations have made it difficult to determine the extent to which liability to recurrent major depressive disorder (rMDD) exists prior to first onset or develops after first onset. This study used a prospective design in a community sample of adolescents to examine variables before and after first onset MDD as predictors of rMDD over a 12-year follow-up. Among 59 adolescents who experienced first onset MDD, 72.88% developed rMDD during the follow-up period. Parental history of rMDD and lifetime history of minor depression prior to MDD onset significantly predicted rMDD. These two effects replicated in ancillary analyses in an expanded sample of N = 205. Following MDD onset, a higher number of major life events significantly predicted rMDD. Liability to rMDD exists prior to MDD onset in the form of familial risk and less severe mood disturbances, whereas liability to rMDD in the form of elevated stress may develop following a first onset in adolescence. PMID:23713498

  8. Characterizing Alcohol Use Disorders and Suicidal Ideation in Young Women

    PubMed Central

    Agrawal, Arpana; Constantino, Anna M.; Bucholz, Kathleen K.; Glowinski, Anne; Madden, Pamela A. F.; Heath, Andrew C.; Lynskey, Michael T.

    2013-01-01

    Objective: Alcohol use disorders (AUDs) and suicidal ideation (SI) co-occur, yet few studies have investigated the risk and protective factors that influence their comorbidity. Method: Data from 3,787 twin women ages 18—27 years were analyzed. AUD was defined as a lifetime history of alcohol abuse or dependence as defined in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. SI was coded as a lifetime report of any SI, and all subjects were queried about SI. Subjects were divided into those with neither AUD nor SI (AUD−SI−), those with AUD but no SI (AUD+SI−), those with SI but no AUD (AUD−SI+), and those with comorbid AUD and SI (AUD+SI+). Association with multiple measures of psychopathology, negative life events, personality, and family history was assessed using multinomial logistic regression. Results: Women with AUD were at 3.1 (95% confidence interval [2.5, 3.8]) odds of also reporting a lifetime history of SI. Psychopathology and negative life events were consistently high in the AUD+SI+ group. AUD+SI+ women also were more likely to report drinking to cope. Substance use was more common in the AUD+SI− versus the AUD−SI+ women, whereas major depressive disorder, social phobia, and panic attacks were more commonly reported by the AUD−SI+ versus the AUD+SI− women. Conclusions: The comorbidity between AUD and SI is characterized in young women by co-occurring psychopathology, drinking to cope, and negative life events. PMID:23490569

  9. Acquired von Willebrand disease.

    PubMed

    Kumar, Shaji; Pruthi, Rajiv K; Nichols, William L

    2002-02-01

    Acquired von Willebrand disease (AvWD) is a relatively rare acquired bleeding disorder that usually occurs in elderly patients, in whom its recognition may be delayed. Patients usually present predominantly with mucocutaneous bleeding, with no previous history of bleeding abnormalities and no clinically meaningful family history. Various underlying diseases have been associated with AvWD, most commonly hematoproliferative disorders, including monoclonal gammopathies, lymphoproliferative disorders, and myeloproliferative disorders. The pathogenesis of AvWD remains incompletely understood but includes autoantibodies directed against the von Willebrand factor (vWF), leading to a more rapid clearance from the circulation or interference with its function, adsorption of vWF by tumor cells, and nonimmunologic mechanisms of destruction. Laboratory evaluation usually reveals a pattern of prolonged bleeding time and decreased levels of vWF antigen, ristocetin cofactor activity, and factor VIII coagulant activity consistent with a diagnosis of vWD. Acquired vWD is distinguished from the congenital form by age at presentation, absence of a personal and family history of bleeding disorders, and, often, presence of a hematoproliferative or autoimmune disorder. The severity of the bleeding varies considerably among patients. Therapeutic options include desmopressin and certain factor VIII concentrates that also contain vWF. Successful treatment of the associated illness can reverse the clinical and laboratory manifestations. Intravenous immunoglobulins have also shown some efficacy in the management of AvWD, especially cases associated with monoclonal gammopathies. Awareness of AvWD is essential for diagnosis and appropriate management. PMID:11838652

  10. A collection of intrinsic disorder characterizations from eukaryotic proteomes

    PubMed Central

    Vincent, Michael; Schnell, Santiago

    2016-01-01

    Intrinsically disordered proteins and protein regions lack a stable three-dimensional structure under physiological conditions. Several proteomic investigations of intrinsic disorder have been performed to date and have found disorder to be prevalent in eukaryotic proteomes. Here we present descriptive statistics of intrinsic disorder features for ten model eukaryotic proteomes that have been calculated from computational disorder prediction algorithms. The data descriptor also provides consensus disorder annotations as well as additional physical parameters relevant to protein disorder, and further provides protein existence information for all proteins included in our analysis. The complete datasets can be downloaded freely, and it is envisaged that they will be updated periodically with new proteomes and protein disorder prediction algorithms. These datasets will be especially useful for assessing protein disorder, and conducting novel analyses that advance our understanding of intrinsic disorder and protein structure. PMID:27326998

  11. A collection of intrinsic disorder characterizations from eukaryotic proteomes.

    PubMed

    Vincent, Michael; Schnell, Santiago

    2016-01-01

    Intrinsically disordered proteins and protein regions lack a stable three-dimensional structure under physiological conditions. Several proteomic investigations of intrinsic disorder have been performed to date and have found disorder to be prevalent in eukaryotic proteomes. Here we present descriptive statistics of intrinsic disorder features for ten model eukaryotic proteomes that have been calculated from computational disorder prediction algorithms. The data descriptor also provides consensus disorder annotations as well as additional physical parameters relevant to protein disorder, and further provides protein existence information for all proteins included in our analysis. The complete datasets can be downloaded freely, and it is envisaged that they will be updated periodically with new proteomes and protein disorder prediction algorithms. These datasets will be especially useful for assessing protein disorder, and conducting novel analyses that advance our understanding of intrinsic disorder and protein structure. PMID:27326998

  12. Methemoglobinemia - acquired

    MedlinePlus

    ... blood disorder in which the body cannot reuse hemoglobin because it is damaged. Hemoglobin is the oxygen-carrying molecule found in red blood cells. In some cases of methemoglobinemia, the hemoglobin is unable to carry enough oxygen to body ...

  13. Tracheomalacia - acquired

    MedlinePlus

    ... After having a breathing tube or trachea tube (tracheostomy) for a long time Symptoms Symptoms of tracheomalacia ... Editorial team. Related MedlinePlus Health Topics Breathing Problems Tracheal Disorders Uncommon Infant and Newborn Problems Browse the Encyclopedia ...

  14. Disordered models of acquired dyslexia

    NASA Astrophysics Data System (ADS)

    Virasoro, M. A.

    We show that certain specific correlations in the probability of errors observed in dyslexic patients that are normally explained by introducing additional complexity in the model for the reading process are typical of any Neural Network system that has learned to deal with a quasiregular environment. On the other hand we show that in Neural Networks the more regular behavior does not become naturally the default behavior.

  15. Characterization and optimization of images acquired by a compact soft X-ray microscope based on a double stream gas-puff target source

    NASA Astrophysics Data System (ADS)

    Torrisi, A.; Wachulak, P.; Fahad Nawaz, M.; Bartnik, A.; Węgrzyński, L.; Jancarek, A.; Fiedorowicz, H.

    2016-04-01

    Using a table-top size soft X-ray (SXR) microscope, based on a laser plasma source with a double stream gas-puff target and a Fresnel zone plate objective, series of images of test samples were acquired. Characterization and optimization of the acquisition parameters were studied and evaluated in terms of signal to noise ratio (SNR). Conclusions for the optimization of SXR imaging were reached. Similar SNR measurements might be performed to characterize other SXR imaging systems as well. Software enabling live calculation of the SNR during the image acquisition might be introduced in future in the compact imaging systems for optimal image acquisition or for benchmarking purposes.

  16. Acquired hyperpigmentations*

    PubMed Central

    Cestari, Tania Ferreira; Dantas, Lia Pinheiro; Boza, Juliana Catucci

    2014-01-01

    Cutaneous hyperpigmentations are frequent complaints, motivating around 8.5% of all dermatological consultations in our country. They can be congenital, with different patterns of inheritance, or acquired in consequence of skin problems, systemic diseases or secondary to environmental factors. The vast majority of them are linked to alterations on the pigment melanin, induced by different mechanisms. This review will focus on the major acquired hyperpigmentations associated with increased melanin, reviewing their mechanisms of action and possible preventive measures. Particularly prominent aspects of diagnosis and therapy will be emphasized, with focus on melasma, post-inflammatory hyperpigmentation, periorbital pigmentation, dermatosis papulosa nigra, phytophotodermatoses, flagellate dermatosis, erythema dyschromicum perstans, cervical poikiloderma (Poikiloderma of Civatte), acanthosis nigricans, cutaneous amyloidosis and reticulated confluent dermatitis PMID:24626644

  17. Differences in quality between privately and publicly banked umbilical cord blood units: a pilot study of autologous cord blood infusion in children with acquired neurologic disorders

    PubMed Central

    Sun, Jessica; Allison, June; McLaughlin, Colleen; Sledge, Linda; Waters-Pick, Barbara; Wease, Stephen; Kurtzberg, Joanne

    2013-01-01

    BACKGROUND A pilot study was conducted to determine the safety and feasibility of intravenous administration of autologous umbilical cord blood (CB) in young children with acquired neurologic disorders. Most CB units (CBUs) were electively stored in private CB banks. Unlike public banks, which utilize specific criteria and thresholds for banking, private banks generally store all collected CBUs. STUDY DESIGN AND METHODS CBUs of eligible patients containing more than 1 × 107 cells/kg were shipped to Duke from the banks of origin after confirming identity by HLA typing. On the day of infusion, CBUs were thawed and washed in dextran-albumin and infused intravenously. Patients were medicated with acetaminophen, diphenhydramine, and methylprednisolone before transfusion. Data regarding patients, infusions, and CBUs were collected retrospectively. Characteristics of CBUs were compared to existing data from CBUs publicly banked at the Carolinas Cord Blood Bank. RESULTS From March 2004 to December 2009, 184 children received 198 CB infusions. Three patients had infusion reactions, all responsive to medical therapy and stopping the infusion. Median precryopreservation volume (60 mL vs. 89 mL, p < 0.0001), total nucleated cell count (4.7 × 108 vs. 10.8 × 108, p < 0.0001), and CD34 count (1.8 × 106 vs. 3.0 × 106, p < 0.0001) were significantly lower than publicly stored CBUs. Postthaw sterility cultures were positive in 7.6% of infused CBUs. CONCLUSION IV infusion of autologous CB is safe and feasible in young children with neurologic injuries. Quality parameters of privately banked CBUs are inferior to those stored in public banks. If efficacy of autologous CB is established clinically, the quality of autologous units should be held to the same standards as those stored in public banks. PMID:20546200

  18. Characterization of Intrinsically Disordered Proteins by Analytical Ultracentrifugation.

    PubMed

    Scott, David J; Winzor, Donald J

    2015-01-01

    Intrinsically disordered proteins have traditionally been largely neglected by structural biologists because a lack of rigid structure precludes their study by X-ray crystallography. Structural information must therefore be inferred from physicochemical studies of their solution behavior. Analytical ultracentrifugation yields important information about the gross conformation of an intrinsically disordered protein. Sedimentation velocity studies provide estimates of the weight-average sedimentation and diffusion coefficients of a given macromolecular state of the protein. PMID:26412654

  19. Acquired amusia.

    PubMed

    Clark, Camilla N; Golden, Hannah L; Warren, Jason D

    2015-01-01

    Recent developments in the cognitive neuroscience of music suggest that a further review of the topic of amusia is timely. In this chapter, we first consider previous taxonomies of amusia and propose a fresh framework for understanding the amusias, essentially as disorders of cognitive information processing. We critically review current cognitive and neuroanatomic findings in the published literature on amusia. We assess the extent to which the clinical and neuropsychologic evidence in amusia can be reconciled; both with the information-processing framework we propose, and with the picture of the brain organization of music and language processing emerging from cognitive neuroscience and functional neuroimaging studies. The balance of evidence suggests that the amusias can be understood as disorders of musical object cognition targeting separable levels of an information-processing hierarchy and underpinned by specific brain network dysfunction. The neuroanatomic associations of the amusias show substantial overlap with brain networks that process speech; however, this convergence leaves scope for separable brain mechanisms based on altered connectivity and dynamics across culprit networks. The study of the amusias contributes to an increasingly complex picture of the musical brain that transcends any simple dichotomy between music and speech or other complex sounds. PMID:25726293

  20. Characterization of naturally acquired multiple-drug resistance of Yoshida rat ascites hepatoma AH66 cell line.

    PubMed

    Miyamoto, K; Wakabayashi, D; Minamino, T; Nomura, M; Wakusawa, S; Nakamura, S

    1996-01-01

    Characteristics of multiple-drug resistance of rat ascites hepatoma AH66, a cell line induced by dimethylaminoazobenzene and established as a transplantable tumor, were compared with those of AH66F, a drug sensitive line obtained from AH66. The AH66 cell line was resistant to vinblastine, adriamycin, SN-38 an active form of camptothesine, etoposide, and clorambucil by 10-fold or more than the AH66F cell line. The resistance of AH66 cells to vinblastine, adriamycin, and SN-38 was closely related to P-glycoprotein overexpression in the plasma membrane, because the resistance was significantly inhibited by verapamil. AH66 cells contained much glutahione and had a high activity of glutathione S-transferase P-form (GST-P), compared with AH66F cells, and resistance to clorambucil was decreased by treatment with buthionine sulfoximine, an inhibitor of glutathione synthesis. AH66 cells have a similar topoisomerase I activity, but about 6 times lower topoisomerase II activity than AH66F cells. Therefore, the resistance to etoposide and a part of the resistance to adriamycin of AH66 cells seems to depend upon this low topoisomerase II activity. These results, show that the AH66 cell line has high multiple-drug resistance compared with the AH66F cell line, by several mechanisms. Consequently, the AH66 and AH66F cell lines are useful to study naturally acquired multiple-drug resistance of hepatomas. PMID:8702243

  1. Associative Learning Through Acquired Salience

    PubMed Central

    Treviño, Mario

    2016-01-01

    Most associative learning studies describe the salience of stimuli as a fixed learning-rate parameter. Presumptive saliency signals, however, have also been linked to motivational and attentional processes. An interesting possibility, therefore, is that discriminative stimuli could also acquire salience as they become powerful predictors of outcomes. To explore this idea, we first characterized and extracted the learning curves from mice trained with discriminative images offering varying degrees of structural similarity. Next, we fitted a linear model of associative learning coupled to a series of mathematical representations for stimulus salience. We found that the best prediction, from the set of tested models, was one in which the visual salience depended on stimulus similarity and a non-linear function of the associative strength. Therefore, these analytic results support the idea that the net salience of a stimulus depends both on the items' effective salience and the motivational state of the subject that learns about it. Moreover, this dual salience model can explain why learning about a stimulus not only depends on the effective salience during acquisition but also on the specific learning trajectory that was used to reach this state. Our mathematical description could be instrumental for understanding aberrant salience acquisition under stressful situations and in neuropsychiatric disorders like schizophrenia, obsessive-compulsive disorder, and addiction. PMID:26793078

  2. Associative Learning Through Acquired Salience.

    PubMed

    Treviño, Mario

    2015-01-01

    Most associative learning studies describe the salience of stimuli as a fixed learning-rate parameter. Presumptive saliency signals, however, have also been linked to motivational and attentional processes. An interesting possibility, therefore, is that discriminative stimuli could also acquire salience as they become powerful predictors of outcomes. To explore this idea, we first characterized and extracted the learning curves from mice trained with discriminative images offering varying degrees of structural similarity. Next, we fitted a linear model of associative learning coupled to a series of mathematical representations for stimulus salience. We found that the best prediction, from the set of tested models, was one in which the visual salience depended on stimulus similarity and a non-linear function of the associative strength. Therefore, these analytic results support the idea that the net salience of a stimulus depends both on the items' effective salience and the motivational state of the subject that learns about it. Moreover, this dual salience model can explain why learning about a stimulus not only depends on the effective salience during acquisition but also on the specific learning trajectory that was used to reach this state. Our mathematical description could be instrumental for understanding aberrant salience acquisition under stressful situations and in neuropsychiatric disorders like schizophrenia, obsessive-compulsive disorder, and addiction. PMID:26793078

  3. Acquired Zinc Deficiency in an Adult Female

    PubMed Central

    Saritha, Mohanan; Gupta, Divya; Chandrashekar, Laxmisha; Thappa, Devinder M; Rajesh, Nachiappa G

    2012-01-01

    Acrodermatitis enteropathica is an autosomal recessive inherited disorder of zinc absorption. Acquired cases are reported occasionally in patients with eating disorders or Crohn's disease. We report a 24-year-old housewife with acquired isolated severe zinc deficiency with no other comorbidities to highlight the rare occurrence of isolated nutritional zinc deficiency in an otherwise normal patient. PMID:23248371

  4. Childhood Disintegrative Disorder.

    ERIC Educational Resources Information Center

    Malhotra, Savita; Gupta, Nitin

    1999-01-01

    This article reviews what is known about childhood distintegrative disorder (CDD), a clinical syndrome characterized by disintegration of mental functions and regression of acquired language and intellectual functions after a period (usually 3-4 years) of normal development. It reviews the condition's epidemiology, onset and progression,…

  5. Molecular and biochemical characterization of an endo-β-1,3-glucanase from the pinewood nematode Bursaphelenchus xylophilus acquired by horizontal gene transfer from bacteria

    PubMed Central

    2005-01-01

    We report the cloning and functional characterization of an endo-β-1,3-glucanase from the pinewood nematode Bursaphelenchus xylophilus acquired by horizontal gene transfer from bacteria. This is the first gene of this type from any nematode species. We show that a similar cDNA is also present in another closely related species B. mucronatus, but that similar sequences are not present in any other nematode studied to date. The B. xylophilus gene is expressed solely in the oesophageal gland cells of the nematode and the protein is present in the nematode's secretions. The deduced amino acid sequence of the gene is very similar to glycosyl hydrolase family 16 proteins. The recombinant protein, expressed in Escherichia coli, preferentially hydrolysed the β-1,3-glucan laminarin, and had very low levels of activity on β-1,3-1,4-glucan, lichenan and barley β-glucan. Laminarin was degraded in an endoglucanase mode by the enzyme. The optimal temperature and pH for activity of the recombinant enzyme were 65 °C and pH 4.9. The protein is probably important in allowing the nematodes to feed on fungi. Sequence comparisons suggest that the gene encoding the endo-β-1,3-glucanase was acquired by horizontal gene transfer from bacteria. B. xylophilus therefore contains genes that have been acquired by this process from both bacteria and fungi. These findings support the idea that multiple independent horizontal gene transfer events have helped in shaping the evolution of several different life strategies in nematodes. PMID:15727561

  6. Molecular and biochemical characterization of an endo-beta-1,3-glucanase from the pinewood nematode Bursaphelenchus xylophilus acquired by horizontal gene transfer from bacteria.

    PubMed

    Kikuchi, Taisei; Shibuya, Hajime; Jones, John T

    2005-07-01

    We report the cloning and functional characterization of an endo-beta-1,3-glucanase from the pinewood nematode Bursaphelenchus xylophilus acquired by horizontal gene transfer from bacteria. This is the first gene of this type from any nematode species. We show that a similar cDNA is also present in another closely related species B. mucronatus, but that similar sequences are not present in any other nematode studied to date. The B. xylophilus gene is expressed solely in the oesophageal gland cells of the nematode and the protein is present in the nematode's secretions. The deduced amino acid sequence of the gene is very similar to glycosyl hydrolase family 16 proteins. The recombinant protein, expressed in Escherichia coli, preferentially hydrolysed the beta-1,3-glucan laminarin, and had very low levels of activity on beta-1,3-1,4-glucan, lichenan and barley beta-glucan. Laminarin was degraded in an endoglucanase mode by the enzyme. The optimal temperature and pH for activity of the recombinant enzyme were 65 degrees C and pH 4.9. The protein is probably important in allowing the nematodes to feed on fungi. Sequence comparisons suggest that the gene encoding the endo-beta-1,3-glucanase was acquired by horizontal gene transfer from bacteria. B. xylophilus therefore contains genes that have been acquired by this process from both bacteria and fungi. These findings support the idea that multiple independent horizontal gene transfer events have helped in shaping the evolution of several different life strategies in nematodes. PMID:15727561

  7. Characterizing autism spectrum disorders by key biochemical pathways.

    PubMed

    Subramanian, Megha; Timmerman, Christina K; Schwartz, Joshua L; Pham, Daniel L; Meffert, Mollie K

    2015-01-01

    The genetic and phenotypic heterogeneity of autism spectrum disorders (ASD) presents a substantial challenge for diagnosis, classification, research, and treatment. Investigations into the underlying molecular etiology of ASD have often yielded mixed and at times opposing findings. Defining the molecular and biochemical underpinnings of heterogeneity in ASD is crucial to our understanding of the pathophysiological development of the disorder, and has the potential to assist in diagnosis and the rational design of clinical trials. In this review, we propose that genetically diverse forms of ASD may be usefully parsed into entities resulting from converse patterns of growth regulation at the molecular level, which lead to the correlates of general synaptic and neural overgrowth or undergrowth. Abnormal brain growth during development is a characteristic feature that has been observed both in children with autism and in mouse models of autism. We review evidence from syndromic and non-syndromic ASD to suggest that entities currently classified as autism may fundamentally differ by underlying pro- or anti-growth abnormalities in key biochemical pathways, giving rise to either excessive or reduced synaptic connectivity in affected brain regions. We posit that this classification strategy has the potential not only to aid research efforts, but also to ultimately facilitate early diagnosis and direct appropriate therapeutic interventions. PMID:26483618

  8. Characterizing autism spectrum disorders by key biochemical pathways

    PubMed Central

    Subramanian, Megha; Timmerman, Christina K.; Schwartz, Joshua L.; Pham, Daniel L.; Meffert, Mollie K.

    2015-01-01

    The genetic and phenotypic heterogeneity of autism spectrum disorders (ASD) presents a substantial challenge for diagnosis, classification, research, and treatment. Investigations into the underlying molecular etiology of ASD have often yielded mixed and at times opposing findings. Defining the molecular and biochemical underpinnings of heterogeneity in ASD is crucial to our understanding of the pathophysiological development of the disorder, and has the potential to assist in diagnosis and the rational design of clinical trials. In this review, we propose that genetically diverse forms of ASD may be usefully parsed into entities resulting from converse patterns of growth regulation at the molecular level, which lead to the correlates of general synaptic and neural overgrowth or undergrowth. Abnormal brain growth during development is a characteristic feature that has been observed both in children with autism and in mouse models of autism. We review evidence from syndromic and non-syndromic ASD to suggest that entities currently classified as autism may fundamentally differ by underlying pro- or anti-growth abnormalities in key biochemical pathways, giving rise to either excessive or reduced synaptic connectivity in affected brain regions. We posit that this classification strategy has the potential not only to aid research efforts, but also to ultimately facilitate early diagnosis and direct appropriate therapeutic interventions. PMID:26483618

  9. a Characterization of Spatial Disorder Using Optical Spectroscopy

    NASA Astrophysics Data System (ADS)

    Krieble, Kelly

    A new method for measurement of the spatial disorder of systems embedded in two dimensions using optical spectroscopy has been developed and applied toward several well-known fractal objects. The particular spatial property that we measure here is the correlation dimension, which relates how points within the object are spatially correlated. The fractal objects are represented as a collection of discrete points on a 35mm negative slide. These points appear as clear circular apertures on an opaque background. A collimated beam of monochromatic light is incident onto the slide and the diffracted light from the apertures is reflected from a plane mirror back onto the slide. The light transmitted through the slide this second time is measured as a function of the base width of the central diffraction cone and is shown to scale as a power law function of this width, with the exponent giving rise to the correlation dimension of the object. The diffraction cone size can be varied in two ways, either geometrically (by changing the mirror to slide distance) or spectroscopically (by changing the incident light wavelength). We show that for a beam of light which is slightly decollimated the scaling behavior of the central diffraction cone is different for the geometric and spectroscopic methods. The deviation from perfect collimation can result from having a finite size light source, misalignment of the lens, and spherical aberration of the lens. The diffraction patterns for the geometric case remain self-similar, regardless of these effects. On the other hand, the self-similarity property breaks down for the spectroscopic case, causing an increase of the measured correlation dimension. The increase is shown to depend on the deviation from perfect collimation and on the magnitude of the true dimension of the investigated fractal. We have quantified these effects both experimentally and in a numerical simulation. A calibration procedure has been developed by which one can

  10. Statistically Characterizing Intra- and Inter-Individual Variability in Children with Developmental Coordination Disorder

    ERIC Educational Resources Information Center

    King, Bradley R.; Harring, Jeffrey R.; Oliveira, Marcio A.; Clark, Jane E.

    2011-01-01

    Previous research investigating children with Developmental Coordination Disorder (DCD) has consistently reported increased intra- and inter-individual variability during motor skill performance. Statistically characterizing this variability is not only critical for the analysis and interpretation of behavioral data, but also may facilitate our…

  11. Epidemiology of Autism Spectrum Disorder in Portugal: Prevalence, Clinical Characterization, and Medical Conditions

    ERIC Educational Resources Information Center

    Oliveira, Guiomar; Ataide, Assuncao; Marques, Carla; Miguel, Teresa S.; Coutinho, Ana Margarida; Mota-Vieira, Luisa; Goncalves, Esmeralda; Lopes, Nazare Mendes; Rodrigues, Vitor; Carmona da Mota, Henrique; Vicente, Astrid Moura

    2007-01-01

    The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332 808 school-aged children in the mainland and 10 910 in the Azores islands.…

  12. Characterization and Factors Associated with Sleep Quality in Adolescents with Bipolar I Disorder

    ERIC Educational Resources Information Center

    Roybal, Donna J.; Chang, Kiki D.; Chen, Michael C.; Howe, Meghan E.; Gotlib, Ian H.; Singh, Manpreet K.

    2011-01-01

    Sleep disturbance is an early marker for bipolar disorder (BD) onset in youth. We characterized sleep quality in adolescents experiencing mania within the last 6-12 months. We examined the association between mood and sleep in 27 adolescents with BD and 24 matched healthy controls (HC). Subjects were assessed by parent and teen report of sleep, a…

  13. Characterization of Motor Control in Handwriting Difficulties in Children with or without Developmental Coordination Disorder

    ERIC Educational Resources Information Center

    Chang, Shao-Hsia; Yu, Nan-Ying

    2010-01-01

    Aim: The purpose of this study was to characterize handwriting deficits in children with developmental coordination disorder (DCD) using computerized movement analyses. Method: Seventy-two children (40 females, 32 males; mean age 7y, SD 7mo; range 6y 2mo to 7y 11mo) with handwriting deficits (33 with DCD, 39 without DCD); and 22 age- and…

  14. Posttraumatic Stress Disorder: Structural Characterization with 3-T MR Imaging.

    PubMed

    Li, Shiguang; Huang, Xiaoqi; Li, Lingjiang; Du, Fei; Li, Jing; Bi, Feng; Lui, Su; Turner, Jessica A; Sweeney, John A; Gong, Qiyong

    2016-08-01

    Purpose To explore cerebral alterations related to the emergence of posttraumatic stress disorder (PTSD) by using three-dimensional T1-weighted imaging and also to explore the relationship of gray and white matter abnormalities and the anatomic changes with clinical severity and duration of time since the trauma. Materials and Methods Informed consent was provided, and the prospective study was approved by the ethics committee of the West China Hospital. Recruited were 67 patients with PTSD and 78 adult survivors without PTSD 7-15 months after a devastating earthquake in western China. All participants underwent magnetic resonance (MR) imaging with a 3-T imager to obtain anatomic images. Cortical thickness and volumes of 14 subcortical gray matter structures and five subregions of the corpus callosum were analyzed with software. Statistical differences between patients with PTSD and healthy survivors were evaluated with a general linear model. Averaged data from the regions with volumetric or cortical thickness differences between groups were extracted in each individual to examine correlations between morphometric measures and clinical profiles. Results Patients with PTSD showed greater cortical thickness in the right superior temporal gyrus, inferior parietal lobule, and left precuneus (P < .05; Monte Carlo null-z simulation corrected) and showed reduced volume in the posterior portion of the corpus callosum (F = 6.167; P = .014) compared with healthy survivors of the earthquake. PTSD severity was positively correlated with cortical thickness in the left precuneus (r = 0.332; P = .008). The volumes of posterior corpus callosum were negatively correlated with PTSD ratings in all survivors (r = -0.210; P = .013) and with cortical thickness of the left precuneus in patients with PTSD (r = -0.302; P = .017). Conclusion Results indicate that patients with PTSD had alterations in both cerebral gray matter and white matter compared with individuals who experienced

  15. Immunophenotypic characterization of the cutaneous exanthem of SIV-infected rhesus monkeys. Apposition of degenerative Langerhans cells and cytotoxic lymphocytes during the development of acquired immunodeficiency syndrome.

    PubMed Central

    Ringler, D. J.; Hancock, W. W.; King, N. W.; Letvin, N. L.; Daniel, M. D.; Desrosiers, R. C.; Murphy, G. F.

    1987-01-01

    A T-cell tropic retrovirus, simian immunodeficiency virus (SIV), has recently been isolated from immunodeficient rhesus monkeys. This virus has remarkable similarities to human immunodeficiency virus (HIV), the etiologic agent of acquired immunodeficiency syndrome. Subsequent studies of simian infection with SIV have shown it to be a relevant animal model for studying the pathogenesis of AIDS in man. In both HIV-infected humans and SIV-infected monkeys, a cutaneous maculopapular eruption has been described. To date, the pathogenesis and possible relationship of these exanthema to the evolution of systemic immunosuppression have remained obscure. In this study, the mononuclear cell infiltrates that characterize skin rashes of SIV-infected rhesus monkeys were found to be composed predominantly of cells with phenotypic characteristics of cytotoxic/suppressor (T8+) lymphocytes and natural killer cells. Many of these cells expressed membrane-bound interleukin-2 receptor molecules. Double labeling and immunoelectron microscopy revealed these cells in direct contact with degenerative Langerhans cells within the epidermis and dermis. These observations suggest that the cutaneous rash associated with SIV infection may be the consequence of target cell injury of Langerhans cells by effector cells with cytotoxic potential. Images Figure 1 Figure 2 Figure 3 PMID:3030113

  16. TU-C-12A-07: Characterization of Longitudinal Reproducibility of Quantitative Diffusion Imaging Data Acquired with Four Different Protocols Using a Phantom

    SciTech Connect

    Li, X; Buzzelli, M; Randazzo, W; Yanasak, N

    2014-06-15

    Purpose: To characterize and compare the longitudinal reproducibility of diffusion imaging data acquired with four different protocols using a phantom. Methods: The Diffusive Quantitative Imaging Phantom (DQIP) was constructed using fifteen cylindrical compartments within a larger compartment, filled with deionized water doped with CuSO4 and NaCl. The smaller compartments contained arrays of hexagonal or cylindrical glass capillaries of varying inner diameters, for differing restraint of water diffusion. The sensitivity of diffusion imaging metrics to signal-to-noise ratio (SNR) was probed by doping compartments with differing ratios of deuterium oxide to H2O. A cork phantom enclosure was constructed to increase thermal stability during scanning and a cork holder was made to reproduce scanner positioning. Four different protocols of DWI (diffusion weighted imaging) and DTI (Diffusion tensor imaging) imaging were assembled on a GE Excite HDx 3.0T MRI scanner to collect imaging data over 9-10 days. Data was processed with in-house software created in Matlab to obtain fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values. Results: All DTI and DWI sequences showed good longitudinal stability of mean FA and ADC values per compartment, exhibiting low standard deviation ∼9%. A t-test was performed to compare mean FA values from the DTI clinical protocol to those of the DTI special protocol, indicating significantly different values in the majority of compartments. ANOVA performed on ADC values for all DTI and DWI sequences also showed significantly different values in a majority of compartments. Conclusion: This work has the potential for quantifying systemic variations between diffusion imaging sequences from different platforms. Characterization of DWI and DTI performance were done over four sequences with predictable results. This data suggests that the DQIP phantom may be a reliable method of monitoring day-to-day and scan-to-scan variation in

  17. A comparison of spectral quality in magnetic resonance spectroscopy data acquired with and without a novel EPI-navigated PRESS sequence in school-aged children with fetal alcohol spectrum disorders

    PubMed Central

    Hess, Aaron T.; Jacobson, Sandra W.; Jacobson, Joseph L.; Molteno, Christopher D.; van der Kouwe, André J.W.; Meintjes, Ernesta M.

    2014-01-01

    Single voxel spectroscopy (SVS) can generate useful information regarding metabolite concentrations provided that the MR signal can be averaged over several minutes during which the subject remains stationary. This requirement can be particularly challenging for children who cannot otherwise be scanned without sedation. To address this problem we developed an EPI volume navigated (vNav) SVS PRESS sequence, which applies real-time head pose (location and orientation), frequency, and first-order B0 shim adjustments. A water-independent preprocessing algorithm removes residual frequency and phase shifts resulting from within-TR movements. We compare results and performance of the standard and vNav PRESS sequences in a sample of 9- to 10-year-olds from a South African cohort of children with fetal alcohol spectrum disorders (FASD) and healthy controls. Magnetic resonance spectroscopy (MRS) data in the deep cerebellar nuclei were initially acquired with the standard PRESS sequence. The children were re-scanned 1 year later with the vNav PRESS sequence. Good quality data were acquired in 73% using the vNav PRESS sequence, compared to only 50% for the standard PRESS sequence. Additionally, tighter linewidths and smaller variances in the measured concentrations were observed. These findings confirm previous reports demonstrating the efficacy of our innovative vNav sequence with healthy volunteers and young children with HIV and expand its application to a school-aged population with FASD—disorders often associated with attention problems and hyperactivity. This study provides the most direct evidence to date regarding degree to which these new methods can improve data quality in research studies employing MRS. PMID:24488204

  18. AIDS: acquired immunodeficiency syndrome *

    PubMed Central

    Gilmore, N.J.; Beaulieu, R.; Steben, M.; Laverdière, M.

    1992-01-01

    Acquired immunodeficiency syndrome, or AIDS, is a new illness that occurs in previously healthy individuals. It is characterized by immunodeficiency, opportunistic infections and unusual malignant diseases. Life-threatening single or multiple infections with viruses, mycobacteria, fungi or protozoa are common. A rare neoplasm, Kaposi's sarcoma, has developed in approximately one third of patients with AIDS. More than 800 cases of AIDS have been reported in North America, over 24 of them in Canada. The majority of patients are male homosexuals, although AIDS has also developed in abusers of intravenously administered drugs, Haitian immigrants, individuals with hemophilia, recipients of blood transfusions, prostitutes, and infants, spouses and partners of patients with AIDS. The cause of AIDS is unknown, but the features are consistent with an infectious process. Early diagnosis can be difficult owing to the nonspecific symptoms and signs of the infections and malignant diseases. Therefore, vigilance by physicians is of the utmost importance. PMID:1544049

  19. Characterizing Aggressive Behavior with the Impulsive/Premeditated Aggression Scale among Adolescents with Conduct Disorder

    PubMed Central

    Mathias, Charles W.; Stanford, Matthew S.; Marsh, Dawn M.; Frick, Paul J.; Moeller, F. Gerard; Swann, Alan C.; Dougherty, Donald M.

    2007-01-01

    This study extends the use of the Impulsive/Premeditated Aggression Scale for subtyping aggressive behavior among adolescents with Conduct Disorder. Of the Conduct Disorder symptoms, aggression has the strongest prognostic and treatment implications. While aggression is a complex construct, convergent evidence supports a dichotomy of impulsive and premeditated aggressive subtypes that are qualitatively different from one another in terms of phenomenology and neurobiology. Previous attempts at measuring subtypes of aggression in children and adults are not clearly generalizable to adolescents. Sixty-six adolescents completed a questionnaire for characterizing aggression (Impulsive/Premeditated Aggression Scale), along with standard measures of personality and general functioning. Principal components analysis demonstrated two stable factors of aggression with good internal consistency and construct validity. Compared to the premeditated aggression factor, the impulsive aggression factor was associated with a broader range of personality, thought, emotional, and social problems. As in the adult and child literature, characterization of aggressive behavior into two subtypes appears to be relevant to understanding individual differences among adolescents with Conduct Disorder. PMID:17383014

  20. Patient Characterization Protocols for Psychophysiological Studies of Traumatic Brain Injury and Post-TBI Psychiatric Disorders

    PubMed Central

    Rapp, Paul E.; Rosenberg, Brenna M.; Keyser, David O.; Nathan, Dominic; Toruno, Kevin M.; Cellucci, Christopher J.; Albano, Alfonso M.; Wylie, Scott A.; Gibson, Douglas; Gilpin, Adele M. K.; Bashore, Theodore R.

    2013-01-01

    Psychophysiological investigations of traumatic brain injury (TBI) are being conducted for several reasons, including the objective of learning more about the underlying physiological mechanisms of the pathological processes that can be initiated by a head injury. Additional goals include the development of objective physiologically based measures that can be used to monitor the response to treatment and to identify minimally symptomatic individuals who are at risk of delayed-onset neuropsychiatric disorders following injury. Research programs studying TBI search for relationships between psychophysiological measures, particularly ERP (event-related potential) component properties (e.g., timing, amplitude, scalp distribution), and a participant’s clinical condition. Moreover, the complex relationships between brain injury and psychiatric disorders are receiving increased research attention, and ERP technologies are making contributions to this effort. This review has two objectives supporting such research efforts. The first is to review evidence indicating that TBI is a significant risk factor for post-injury neuropsychiatric disorders. The second objective is to introduce ERP researchers who are not familiar with neuropsychiatric assessment to the instruments that are available for characterizing TBI, post-concussion syndrome, and psychiatric disorders. Specific recommendations within this very large literature are made. We have proceeded on the assumption that, as is typically the case in an ERP laboratory, the investigators are not clinically qualified and that they will not have access to participant medical records. PMID:23885250

  1. Acquired hemophilia masked by warfarin therapy.

    PubMed

    Kantor, R; Mayan, H; Puritz, L; Varon, D; Farfel, Z

    2000-03-01

    People without hemophilia but with autoantibodies specifically directed against the procoagulant activity of factor VIII are known to have acquired hemophilia. The bleeding diathesis in these patients is often severe and life-threatening. The definite laboratory diagnosis of this disorder includes demonstration of low factor VIII levels in plasma with a high titer of factor VIII inhibitors, but the initial suspicion for its presence should rise in view of a prolonged partial thromboblastin time (PTT) and a normal prothrombin time associated with an acquired bleeding disorder. Oral anticoagulant treatment is known to prolong PTT as well, and the merger of these 2 situations may cause delayed diagnosis of acquired hemophilia with devastating consequences. We describe here the first reported case of acquired hemophilia diagnosed in a patient treated with warfarin. In such patients prolonged PTT may be ascribed to warfarin therapy rather than to acquired hemophilia, thus causing a dangerous delay in diagnosis. PMID:10746834

  2. Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency

    ERIC Educational Resources Information Center

    Malhotra, Savita; Subodh, B. N.; Parakh, Preeti; Lahariya, Sanjay

    2013-01-01

    Childhood disintegrative disorder is a rare disorder, characterized by regression of acquired skills after a period of normal development. The case of childhood disintegrative disorder presented here was found to have vitamin B12 deficiency and hyperhomocysteinemia on extensive evaluation to find a probable cause for regression. This case…

  3. Characterization of the passivation layer on disordered carbons in lithium-ion cells

    SciTech Connect

    Guidotti, R.; Johnson, B.

    1995-12-01

    Intercalation anodes of graphite or disordered carbon in rechargeable Li-ion batteries (based on aprotic organic solvents) develop a passivating film during the first intercalation of Li{sup +}. The formation of this film reduces the cycling efficiency and results in excessive consumption of Li{sup +}. The exact nature of this film is not well defined, although there are many similarities in properties to the films that form on Li anodes under similar cycling conditions. In this study we report on characterization studies of films formed during galvanostatic cycling of disordered carbons derived from polymethylacryolintrile (PMAN) in a 1M LiPF{sub 6} solution in ethylene carbonateldimethyl carbonate solution (1:1 by vol.). Complementary tests were also conducted with glass carbon, where intercalation cannot occur. Complex-impedance spectroscopy was the primary measurement technique, supplemented by cyclic voltammetry.

  4. Acquired Brachial Cutaneous Dyschromatosis in a 60-Year-Old Male: A Case Report and Review of the Literature

    PubMed Central

    Foering, Kristen

    2014-01-01

    Acquired brachial cutaneous dyschromatosis is an acquired pigmentary disorder that has been described in only 20 patients but likely affects many more. This case of a man with acquired brachial cutaneous dyschromatosis is unique as most reports are in women. We report the case of a 60-year-old male who presents with an asymptomatic eruption characterized by hyperpigmented and telangiectatic macules coalescing into patches on the bilateral extensor aspects of the forearms which is consistent clinically and histopathologically with acquired brachial cutaneous dyschromatosis. Given its presence in patients with clinical evidence of chronic sun exposure and its histopathological finding of solar elastosis, acquired brachial cutaneous dyschromatosis is likely a disorder caused by cumulative UV damage. However, a possible association between angiotensin-converting enzyme inhibitors and acquired brachial cutaneous dyschromatosis exists. Further investigation is needed to elucidate both the pathogenesis of the disorder and forms of effective management. Treatment of the disorder should begin with current established treatments for disorders of dyspigmentation. PMID:25610668

  5. Hospital-acquired pneumonia

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000146.htm Hospital-acquired pneumonia To use the sharing features on this page, please enable JavaScript. Hospital-acquired pneumonia is an infection of the lungs ...

  6. Characterization of spatio-temporal epidural event-related potentials for mouse models of psychiatric disorders.

    PubMed

    Wang, Xin; Pinto-Duarte, António; Behrens, M Margarita; Zhou, Xianjin; Sejnowski, Terrence J

    2015-01-01

    Distinctive features in sensory event-related potentials (ERPs) are endophenotypic biomarkers of psychiatric disorders, widely studied using electroencephalographic (EEG) methods in humans and model animals. Despite the popularity and unique significance of the mouse as a model species in basic research, existing EEG methods applicable to mice are far less powerful than those available for humans and large animals. We developed a new method for multi-channel epidural ERP characterization in behaving mice with high precision, reliability and convenience and report an application to time-domain ERP feature characterization of the Sp4 hypomorphic mouse model for schizophrenia. Compared to previous methods, our spatio-temporal ERP measurement robustly improved the resolving power of key signatures characteristic of the disease model. The high performance and low cost of this technique makes it suitable for high-throughput behavioral and pharmacological studies. PMID:26459883

  7. Characterization of spatio-temporal epidural event-related potentials for mouse models of psychiatric disorders

    PubMed Central

    Wang, Xin; Pinto-Duarte, António; Margarita Behrens, M.; Zhou, Xianjin; Sejnowski, Terrence J.

    2015-01-01

    Distinctive features in sensory event-related potentials (ERPs) are endophenotypic biomarkers of psychiatric disorders, widely studied using electroencephalographic (EEG) methods in humans and model animals. Despite the popularity and unique significance of the mouse as a model species in basic research, existing EEG methods applicable to mice are far less powerful than those available for humans and large animals. We developed a new method for multi-channel epidural ERP characterization in behaving mice with high precision, reliability and convenience and report an application to time-domain ERP feature characterization of the Sp4 hypomorphic mouse model for schizophrenia. Compared to previous methods, our spatio-temporal ERP measurement robustly improved the resolving power of key signatures characteristic of the disease model. The high performance and low cost of this technique makes it suitable for high-throughput behavioral and pharmacological studies. PMID:26459883

  8. Clinical Analysis and Management of Acquired Idiopathic Generalized Anhidrosis.

    PubMed

    Satoh, Takahiro

    2016-01-01

    Acquired idiopathic generalized anhidrosis (AIGA) is a sweating disorder characterized by inadequate sweating in response to heat stimuli such as high temperature, humidity, and physical exercise. Patients exhibit widespread nonsegmental hypohidrosis/anhidrosis without any apparent cause, but the palms, soles, and axillae are rarely affected. Heat stroke readily develops due to increased body temperature. AIGA commonly affects young males. Approximately 30-60% of patients show complications of cholinergic urticaria, also known as idiopathic pure sudomotor failure or hypohidrotic cholinergic urticaria. Systemic corticosteroids are the most effective therapy, although recurrence is not uncommon. PMID:27584965

  9. Conformational characterization of the intrinsically disordered protein Chibby: Interplay between structural elements in target recognition.

    PubMed

    Killoran, Ryan C; Sowole, Modupeola A; Halim, Mohammad A; Konermann, Lars; Choy, Wing-Yiu

    2016-08-01

    The protein Chibby (Cby) is an antagonist of the Wnt signaling pathway, where it inhibits the binding between the transcriptional coactivator β-catenin and the Tcf/Lef transcription factors. The 126 residue Cby is partially disordered; its N-terminal half is unstructured while its C-terminal half comprises a coiled-coil domain. Previous structural analyses of Cby using NMR spectroscopy suffered from severe line broadening for residues within the protein's C-terminal half, hindering detailed characterization of the coiled-coil domain. Here, we use hydrogen/deuterium exchange-mass spectrometry (HDX-MS) to examine Cby's C-terminal half. Results reveal that Cby is divided into three structural elements: a disordered N-terminal half, a coiled-coil domain, and a C-terminal unstructured extension consisting of the last ∼ 25 residues (which we term C-terminal extension). A series of truncation constructs were designed to assess the roles of individual structural elements in protein stability and Cby binding to TC-1, a positive regulator of the Wnt signaling pathway. CD and NMR data show that Cby maintains coiled-coil structure upon deletion of either disordered region. NMR and ITC binding experiments between Cby and TC-1 illustrate that the interaction is retained upon deletion of either Cby's N-terminal half or its C-terminal extension. Intriguingly, Cby's C-terminal half alone binds to TC-1 with significantly greater affinity compared to full-length Cby, implying that target binding of the coiled-coil domain is affected by the flanking disordered regions. PMID:27082063

  10. Acquired von Willebrand syndrome: an update.

    PubMed

    Franchini, Massimo; Lippi, Giuseppe

    2007-05-01

    Acquired von Willebrand syndrome (aVWS) is a rare bleeding disorder with laboratory findings similar to those for congenital von Willebrand disease (VWD). However, unlike congenital VWD, it arises in individuals with no personal or family history of bleeding. aVWS occurs in association with a variety of underlying disorders, most frequently in lymphoproliferative disorders, myeloproliferative disorders, and cardiovascular diseases. Through an analysis of the more recent literature data, the pathophysiology and the clinical, laboratory, and therapeutic aspects of this syndrome are concisely reported in this review. PMID:17133419

  11. The Possible Role of Transplacentally-Acquired Antibodies to Infectious Agents, With Molecular Mimicry to Nervous System Sialic Acid Epitopes, as Causes of Neuromental Disorders: Prevention and Vaccine Implications

    PubMed Central

    Nahmias, André J.; Nahmias, Susanne Beckman; Danielsson, Dan

    2006-01-01

    Proof of causality of most neuromental disorders (NMD's) is largely unavailable. Lessons from four-decade investigations of the epidemiology, immunology, pathogenesis, prevention and therapy of perinatal infectious agents, which invade directly the nervous system, have led us to propose a new indirect effect hypothesis: maternal transplacentally-acquired antibodies, to agents with epitope molecular mimicry with the developing nervous system, can cross the fetus/infant's blood–nervous system barriers to cause NMD's, clinically manifest years later.Further rationale is provided by relevant evolutionary/developmental (EVO–DEVO) considerations—applicable also to some vaccines. The hypothesis is being tested in: (a) older pregnancy studies with available maternal and newborn sera, and follow-up of the progeny for NMD's; and (b) NMD registry individuals linked to their stored newborn blood spots. Preliminary results support a possible role for schizophrenia of high-tittered antibodies to some agents (toxoplasma, influenza and herpes simplex type 2 virus).A model that includes likely genetic and postnatal influences is schematized and a list of putative agents and factors, based on varying rationales, is tabulated. In case pilot studies are confirmed, the identified agent(s) and antibodies would need to be tested in new prospectively enrolled pregnant women, so as to establish further risk factors leading to possible preventive modalities. PMID:17162360

  12. Acquired causes of intestinal malabsorption.

    PubMed

    van der Heide, F

    2016-04-01

    This review focuses on the acquired causes, diagnosis, and treatment of intestinal malabsorption. Intestinal absorption is a complex process that depends on many variables, including the digestion of nutrients within the intestinal lumen, the absorptive surface of the small intestine, the membrane transport systems, and the epithelial absorptive enzymes. Acquired causes of malabsorption are classified by focussing on the three phases of digestion and absorption: 1) luminal/digestive phase, 2) mucosal/absorptive phase, and 3) transport phase. Most acquired diseases affect the luminal/digestive phase. These include short bowel syndrome, extensive small bowel inflammation, motility disorders, and deficiencies of digestive enzymes or bile salts. Diagnosis depends on symptoms, physical examination, and blood and stool tests. There is no gold standard for the diagnosis of malabsorption. Further testing should be based on the specific clinical context and the suspected underlying disease. Therapy is directed at nutritional support by enteral or parenteral feeding and screening for and supplementation of deficiencies in vitamins and minerals. Early enteral feeding is important for intestinal adaptation in short bowel syndrome. Medicinal treatment options for diarrhoea in malabsorption include loperamide, codeine, cholestyramine, or antibiotics. PMID:27086886

  13. Acute Acquired Concomitant Esotropia

    PubMed Central

    Chen, Jingchang; Deng, Daming; Sun, Yuan; Shen, Tao; Cao, Guobin; Yan, Jianhua; Chen, Qiwen; Ye, Xuelian

    2015-01-01

    Abstract Acute acquired concomitant esotropia (AACE) is a rare, distinct subtype of esotropia. The purpose of this retrospective study was to describe the clinical characteristics and discuss the classification and etiology of AACE. Charts from 47 patients with AACE referred to our institute between October 2010 and November 2014 were reviewed. All participants underwent a complete medical history, ophthalmologic and orthoptic examinations, and brain and orbital imaging. Mean age at onset was 26.6 ± 12.2 years. Of the 18 cases with deviations ≤ 20 PD, 16 presented with diplopia at distance and fusion at near vision at the onset of deviation; differences between distance and near deviations were < 8 PD; all cases except one were treated with prism and diplopia resolved. Of the 29 cases with deviations > 20 PD, 5 were mild hypermetropic with age at onset between 5 and 19 years, 16 were myopic, and 8 were emmetropic with age at onset > 12 years; 24 were surgically treated and 5 cases remained under observation; all 24 cases achieved normal retinal correspondence or fusion or stereopsis on postoperative day 1 in synoptophore; in 23 cases diplopia or visual confusion resolved postoperatively. Of the 47 cases, brain and orbital imaging in 2 cases revealed a tumor in the cerebellopontine angle and 1 case involved spinocerebellar ataxia as revealed by genetic testing. AACE in this study was characterized by a sudden onset of concomitant nonaccommodative esotropia with diplopia or visual confusion at 5 years of age or older and the potential for normal binocular vision. We suggest that AACE can be divided into 2 subgroups consisting of patients with relatively small versus large angle deviations. Coexisting or underlying neurological diseases were infrequent in AACE. PMID:26705210

  14. A Hybrid Classifier for Characterizing Motor Unit Action Potentials in Diagnosing Neuromuscular Disorders

    PubMed Central

    Kamali, T; Boostani, R; Parsaei, H

    2013-01-01

    Background: The time and frequency features of motor unit action potentials (MUAPs) extracted from electromyographic (EMG) signal provide discriminative information for diagnosis and treatment of neuromuscular disorders. However, the results of conventional automatic diagnosis methods using MUAP features is not convincing yet. Objective: The main goal in designing a MUAP characterization system is obtaining high classification accuracy to be used in clinical decision system. For this aim, in this study, a robust classifier is proposed to improve MUAP classification performance in estimating the class label (myopathic, neuropathic and normal) of a given MUAP. Method: The proposed scheme employs both time and time–frequency features of a MUAP along with an ensemble of support vector machines (SVMs) classifiers in hybrid serial/parallel architecture. Time domain features includes phase, turn, peak to peak amplitude, area, and duration of the MUAP. Time–frequency features are discrete wavelet transform coefficients of the MUAP. Results: Evaluation results of the developed system using EMG signals of 23 subjects (7 with myopathic, 8 with neuropathic and 8 with no diseases)  showed that the system estimated the class label of MUAPs extracted from these signals with average of accuracy of 91% which is at least 5% higher than the accuracy of two previously presented methods. Conclusion: Using different optimized subsets of features along with the presented hybrid classifier results in a classification accuracy that is encouraging to be used in clinical applications for MUAP characterization.  PMID:25505761

  15. Acquired Cystic Kidney Disease

    MedlinePlus

    ... a kidney transplant or blood-filtering treatments called dialysis. The cysts are more likely to develop in people who are on kidney dialysis. The chance of developing acquired cystic kidney disease ...

  16. Hospital-acquired pneumonia

    MedlinePlus

    ... tends to be more serious than other lung infections because: People in the hospital are often very sick and cannot fight off ... prevent pneumonia. Most hospitals have programs to prevent hospital-acquired infections.

  17. Characterizing Objective Quality of Life and Normative Outcomes in Adults with Autism Spectrum Disorder: An Exploratory Latent Class Analysis

    ERIC Educational Resources Information Center

    Bishop-Fitzpatrick, Lauren; Hong, Jinkuk; Smith, Leann E.; Makuch, Renee A.; Greenberg, Jan S.; Mailick, Marsha R.

    2016-01-01

    This study aims to extend the definition of quality of life (QoL) for adults with autism spectrum disorder (ASD, n = 180, ages 23-60) by: (1) characterizing the heterogeneity of normative outcomes (employment, independent living, social engagement) and objective QoL (physical health, neighborhood quality, family contact, mental health issues); and…

  18. Characterizing Communicative Development in Children Referred for Autism Spectrum Disorders Using the MacArthur-Bates Communicative Development Inventory (CDI)

    ERIC Educational Resources Information Center

    Luyster, Rhiannon; Lopez, Kristina; Lord, Catherine

    2007-01-01

    Characterizing early communicative development in children with Autism Spectrum Disorders (ASD) is valuable for understanding profiles of ability in this population. The current investigation was modeled on Charman, Drew, Baird & Baird (2003b). Analyses explored parent report of early vocabulary, non-verbal communication, functional object use and…

  19. Immunoregulation of genetically controlled acquired responses to Leishmania donovani infection in mice: demonstration and characterization of suppressor T cells in noncure mice.

    PubMed Central

    Blackwell, J M; Ulczak, O M

    1984-01-01

    On a B10 genetic background, genes in the I region of H-2 influence the development of acquired T-cell mediated immunity to Leishmania donovani infection in mice. In previous studies, noncure in H-2d mice could be abrogated by pretreatments with cyclophosphamide or sublethal irradiation. The prophylactic effect of these pretreatments was consistent with deletion of the precursors of suppressor T cells suppressing T-cell-mediated immune responses. In this study, cell transfer experiments provide direct evidence for the role of suppressor T cells in the noncure response. T-cell-enriched populations isolated from the spleens of B10.D2/n mice infected 30, 61, or 85 days previously reversed the prophylactic effect of sublethal irradiation when injected before infection into B10.D2/n mice that had received 550 rads. B-cell-enriched populations failed to transfer suppression in this manner, and T-cell-enriched populations from the spleens of normal B10.D2/n mice had only a transient effect on liver parasite loads. Transfer of suppression with the T-cell-enriched populations from infected donors was abrogated by pretreatment with anti-Thy-1.2 and anti-Lyt-1.2 antisera plus complement but not by pretreatment with anti-Lyt-2.2 plus complement, indicating that the suppressor T cell involved has an Lyt-1+2- surface phenotype. Results are discussed in relation to the possible mechanism of H-2-linked control. PMID:6231248

  20. Panic Disorder

    MedlinePlus

    ... panic disorder? Panic disorder is characterized by recurrent panic attacks—an uncontrollable and terrifying response to ordinary, nonthreatening ... is also persistent anxiety or fear about the panic attacks and changes in behavior in an attempt to ...

  1. Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog

    PubMed Central

    Natelson, Ethan A.; Pyatt, David

    2013-01-01

    Myelodysplastic syndromes (MDS) are clonal myeloid disorders characterized by progressive peripheral blood cytopenias associated with ineffective myelopoiesis. They are typically considered neoplasms because of frequent genetic aberrations and patient-limited survival with progression to acute myeloid leukemia (AML) or death related to the consequences of bone marrow failure including infection, hemorrhage, and iron overload. A progression to AML has always been recognized among the myeloproliferative disorders (MPD) but occurs only rarely among those with essential thrombocythemia (ET). Yet, the World Health Organization (WHO) has chosen to apply the designation myeloproliferative neoplasms (MPN), for all MPD but has not similarly recommended that all MDS become the myelodysplastic neoplasms (MDN). This apparent dichotomy may reflect the extremely diverse nature of MDS. Moreover, the term MDS is occasionally inappropriately applied to hematologic disorders associated with acquired morphologic myelodysplastic features which may rather represent potentially reversible hematological responses to immune-mediated factors, nutritional deficiency states, and disordered myelopoietic responses to various pharmaceutical, herbal, or other potentially myelotoxic compounds. We emphasize the clinical settings, and the histopathologic features, of such AMD that should trigger a search for a reversible underlying condition that may be nonneoplastic and not MDS. PMID:24194760

  2. Genomic and Molecular Characterization of Miltefosine Resistance in Leishmania infantum Strains with Either Natural or Acquired Resistance through Experimental Selection of Intracellular Amastigotes

    PubMed Central

    Hendrickx, Sarah; Eberhardt, Eline; Garcia-Hernandez, Raquel; Lachaud, Laurence; Cotton, James; Sanders, Mandy; Cuypers, Bart; Imamura, Hideo; Dujardin, Jean-Claude; Delputte, Peter; Cos, Paul; Caljon, Guy; Gamarro, Francisco; Castanys, Santiago

    2016-01-01

    During the last decade miltefosine (MIL) has been used as first-line treatment for visceral leishmaniasis in endemic areas with antimonial resistance, but a decline in clinical effectiveness is now being reported. While only two MIL-resistant Leishmania infantum strains from HIV co-infected patients have been documented, phenotypic MIL-resistance for L. donovani has not yet been identified in the laboratory. Hence, a better understanding of the factors contributing to increased MIL-treatment failure is necessary. Given the paucity of defined MIL-resistant L. donovani clinical isolates, this study used an experimental amastigote-selected MIL-resistant L. infantum isolate (LEM3323). In-depth exploration of the MIL-resistant phenotype was performed by coupling genomic with phenotypic data to gain insight into gene function and the mutant phenotype. A naturally MIL-resistant L. infantum clinical isolate (LEM5159) was included to compare both datasets. Phenotypically, resistance was evaluated by determining intracellular amastigote susceptibility in vitro and actual MIL-uptake. Genomic analysis provided supportive evidence that the resistance selection model on intracellular amastigotes can be a good proxy for the in vivo field situation since both resistant strains showed mutations in the same inward transporter system responsible for the acquired MIL-resistant phenotype. In line with previous literature findings in promastigotes, our data confirm a defective import machinery through inactivation of the LiMT/LiRos3 protein complex as the main mechanism for MIL-resistance also in intracellular amastigotes. Whole genome sequencing analysis of LEM3323 revealed a 2 base pair deletion in the LiMT gene that led to the formation an early stop codon and a truncation of the LiMT protein. Interestingly, LEM5159 revealed mutations in both the LiMT and LiRos3 genes, resulting in an aberrant expression of the LiMT protein. To verify that these mutations were indeed accountable for

  3. Genomic and Molecular Characterization of Miltefosine Resistance in Leishmania infantum Strains with Either Natural or Acquired Resistance through Experimental Selection of Intracellular Amastigotes.

    PubMed

    Mondelaers, Annelies; Sanchez-Cañete, Maria P; Hendrickx, Sarah; Eberhardt, Eline; Garcia-Hernandez, Raquel; Lachaud, Laurence; Cotton, James; Sanders, Mandy; Cuypers, Bart; Imamura, Hideo; Dujardin, Jean-Claude; Delputte, Peter; Cos, Paul; Caljon, Guy; Gamarro, Francisco; Castanys, Santiago; Maes, Louis

    2016-01-01

    During the last decade miltefosine (MIL) has been used as first-line treatment for visceral leishmaniasis in endemic areas with antimonial resistance, but a decline in clinical effectiveness is now being reported. While only two MIL-resistant Leishmania infantum strains from HIV co-infected patients have been documented, phenotypic MIL-resistance for L. donovani has not yet been identified in the laboratory. Hence, a better understanding of the factors contributing to increased MIL-treatment failure is necessary. Given the paucity of defined MIL-resistant L. donovani clinical isolates, this study used an experimental amastigote-selected MIL-resistant L. infantum isolate (LEM3323). In-depth exploration of the MIL-resistant phenotype was performed by coupling genomic with phenotypic data to gain insight into gene function and the mutant phenotype. A naturally MIL-resistant L. infantum clinical isolate (LEM5159) was included to compare both datasets. Phenotypically, resistance was evaluated by determining intracellular amastigote susceptibility in vitro and actual MIL-uptake. Genomic analysis provided supportive evidence that the resistance selection model on intracellular amastigotes can be a good proxy for the in vivo field situation since both resistant strains showed mutations in the same inward transporter system responsible for the acquired MIL-resistant phenotype. In line with previous literature findings in promastigotes, our data confirm a defective import machinery through inactivation of the LiMT/LiRos3 protein complex as the main mechanism for MIL-resistance also in intracellular amastigotes. Whole genome sequencing analysis of LEM3323 revealed a 2 base pair deletion in the LiMT gene that led to the formation an early stop codon and a truncation of the LiMT protein. Interestingly, LEM5159 revealed mutations in both the LiMT and LiRos3 genes, resulting in an aberrant expression of the LiMT protein. To verify that these mutations were indeed accountable for

  4. Characterization of hospital and community-acquired respiratory syncytial virus in children with severe lower respiratory tract infections in Ho Chi Minh City, Vietnam, 2010

    PubMed Central

    Tuan, Tran Anh; Thanh, Tran Tan; Hai, Nguyen thi Thanh; Tinh, Le Binh Bao; Kim, Le thi Ngoc; Do, Lien Anh Ha; Chinh B'Krong, Nguyen thi Thuy; Tham, Nguyen thi; Hang, Vu thi Ty; Merson, Laura; Farrar, Jeremy; Thuong, Tang Chi; de Jong, Menno D; Schultsz, Constance; van Doorn, H Rogier

    2015-01-01

    Background Human respiratory syncytial virus (RSV) is an important community and nosocomial pathogen in developed countries but data regarding the importance of RSV in developing countries are relatively scarce. Methods During a 1-year surveillance study in 2010, we took serial samples from children admitted to the Emergency Unit of the Respiratory Ward of Children's Hospital 1 in Ho Chi Minh City, Vietnam. RSV was detected within 72 hours of admission to the ward in 26% (376/1439; RSV A: n = 320; RSV B: n = 54; and RSV A and B: n = 2). Among those negative in the first 72 hours after admission, 6·6% (25/377) acquired nosocomial RSV infection during hospitalization (RSV A: n = 22; and RSV B: n = 3). Results Children with nosocomial RSV infection were younger (P = 0·001) and had a longer duration of hospitalization (P < 0·001). The rate of incomplete recovery among children with nosocomial RSV infection was significantly higher than among those without (P < 0·001). Phylogenetic analysis of partial G gene sequences obtained from 79% (316/401) of positive specimens revealed the co-circulation of multiple genotypes with RSV A NA1 being predominant (A NA1: n = 275; A GA5: n = 5; B BA3: n = 3; B BA9: n = 26; and B BA10: n = 7). The RSV A GA5 and RSV B BA3 genotypes have not been reported from Vietnam, previously. Conclusion Besides emphasizing the importance of RSV as a cause of respiratory infection leading to hospitalization in young children and as a nosocomial pathogen, data from this study extend our knowledge on the genetic diversity of RSV circulating in Vietnam. PMID:25702707

  5. Increased thymidylate synthase in L1210 cells possessing acquired resistance to N10-propargyl-5,8-dideazafolic acid (CB3717): development, characterization, and cross-resistance studies

    SciTech Connect

    Jackman, A.L.; Alison, D.L.; Calvert, A.H.; Harrap, K.R.

    1986-06-01

    The properties are described of a mutant L1210 cell line (L1210:C15) with acquired resistance (greater than 200-fold) to the thymidylate synthase (TS) inhibitor N10-propargyl-5,8-dideazafolic acid. TS was overproduced 45-fold and was accompanied by a small increase in the activity of dihydrofolate reductase (2.6-fold). Both the level of resistance and enzyme activities were maintained in drug-free medium (greater than 300 generations). Failure of N10-propargyl-5,8-dideazafolic acid to suppress the (/sup 3/H)-2'-deoxyuridine incorporation into the acid-precipitable material of the resistant line supported the evidence that TS overproduction was the mechanism of resistance; consequently the L1210:C15 cells were largely cross-resistant to another (but weaker) TS inhibitor, 5,8-dideazafolic acid. Minimal cross-resistance was observed to the dihydrofolate reductase inhibitors methotrexate and 5-methyl-5,8-dideazaaminopterin (5- and 2-fold, respectively). L1210 and L1210:C15 cells were, however, equally sensitive to 5-fluorodeoxyuridine (FdUrd), an unexpected finding since a metabolite, 5-fluorodeoxyuridine monophosphate, is a potent TS inhibitor; however, this cytotoxicity against the L1210:C15 cells was antagonized by coincubation with 5 microM folinic acid although folinic acid potentiated the cytotoxicity of FdUrd to the N10-propargyl-5,8-dideazafolic acid-sensitive L1210 line. Thymidine was much less effective as a FdUrd protecting agent in the L1210:C15 when compared with the L1210 cells; however, a combination of thymidine plus hypoxanthine was without any additional effect (compared with thymidine alone) against the sensitive line but effectively protected L1210:C15 cells.

  6. Microstructure characterization and bulk properties of disordered two-phase media

    NASA Astrophysics Data System (ADS)

    Torquato, S.

    1986-12-01

    A general formalism is developed to statistically characterize the microstructure of porous and other composite media composed of inclusions (particles) distributed throughout a matrix phase (which, in the case of porous media, is the void phase). This is accomplished by introducing a new and general n-point distribution function H n and by deriving two series representations of it in terms of the probability density functions that characterize the configuration of particles; quantities that, in principle, are known for the ensemble under consideration. In the special case of an equilibrium ensemble, these two equivalent but topologically different series for the H n are generalizations of the Kirkwood-Salsburg and Mayer hierarchies of liquid-state theory for a special mixture of particles described in the text. This methodology provides a means of calculating any class of correlation functions that have arisen in rigorous bounds on transport properties (e.g., conductivity and fluid permeability) and mechanical properties (e.g., elastic moduli) for nontrivial models of two-phase disordered media. Asymptotic and bounding properties of the general function H n are described. To illustrate the use of the formalism, some new results are presented for the H n and it is shown how such information is employed to compute bounds on bulk properties for models of fully penetrable (i.e., randomly centered) spheres, totally impenetrable spheres, and spheres distributed with arbitrary degree of impenetrability. Among other results, bounds are computed on the fluid permeability, for assemblages of impenetrable as well as penetrable spheres, with heretofore unattained accuracy.

  7. Characterizing Factors of Employment Status in Persons With Major Depressive Disorder.

    PubMed

    Chen, Fang-Pei; Samet, Sharon; Gorroochurn, Prakash; O'Hara, Kathleen M

    2016-09-01

    Employment is fundamental to mental health recovery. The aim of this study is to construct a parsimonious profile indicating employment potential of people with major depressive disorder (MDD) to facilitate clinical assessment on employment participation. Data were drawn from Waves 1 (2001-2002) and 2 (2004-2005) of the National Epidemiologic Survey on Alcohol and Related Conditions. We included participants who had MDD at Wave 1 and were interviewed in both waves (N = 2,864). We conducted Classification and Regression Tree (CART) analysis to identify key characterizing factors of Wave 2 employment among 32 Wave 1 risk and protective factors. The results show that 82.1% of those employed at Wave 1 were likely to be employed at Wave 2. Among those unemployed at Wave 1, 51% of those motivated to work, measured by work-seeking behavior in the prior year, were likely to be employed at Wave 2. Among those unemployed and motivated to work, better functional mental health was associated with employment (>25.3 vs. ≤25.3). Results highlight the importance of motivation to work, shown in active work seeking, in facilitating employment despite clinical conditions. PMID:26660532

  8. Community-acquired pneumonia.

    PubMed

    Falguera, M; Ramírez, M F

    2015-11-01

    This article not only reviews the essential aspects of community-acquired pneumonia for daily clinical practice, but also highlights the controversial issues and provides the newest available information. Community-acquired pneumonia is considered in a broad sense, without excluding certain variants that, in recent years, a number of authors have managed to delineate, such as healthcare-associated pneumonia. The latter form is nothing more than the same disease that affects more frail patients, with a greater number of risk factors, both sharing an overall common approach. PMID:26186969

  9. Retrospective epidemiological study for the characterization of community- acquired pneumonia and pneumococcal pneumonia in adults in a well-defined area of Badalona (Barcelona, Spain)

    PubMed Central

    2012-01-01

    Background Community-acquired pneumonia (CAP) has large impact on direct healthcare costs, especially those derived from hospitalization. This study determines impact, clinical characteristics, outcome and economic consequences of CAP in the adult (≥18 years) population attended in 6 primary-care centers and 2 hospitals in Badalona (Spain) over a two-year period. Methods Medical records were identified by codes from the International Classification of Diseases in databases (January 1st 2008-December 31st 2009). Results A total of 581 patients with CAP (55.6% males, mean age 57.5 years) were identified. Prevalence: 0.64% (95% CI: 0.5%-0.7%); annual incidence: 3.0 cases/1,000 inhabitants (95% CI: 0.2-0.5). Up to 241 (41.5%) required hospitalization. Hospital admission was associated (p<0.002) with liver disease (OR=5.9), stroke (OR=3.6), dementia (OR=3.5), COPD (OR=2.9), diabetes mellitus (OR=1.9) and age (OR=1.1 per year). Length of stay (4.4±0.3 days) was associated with PSI score (β=0.195), in turn associated with age (r=0.827) and Charlson index (r=0.497). Microbiological tests were performed in all inpatients but only in 35% outpatients. Among patients with microbiological tests, results were positive in 51.7%, and among them, S pneumoniae was identified in 57.5% cases. Time to recovery was 29.9±17.2 days. Up to 7.5% inpatients presented complications, 0.8% required ICU admission and 19.1% readmission. Inhospital mortality rate was 2.5%. Adjusted mean total cost was €2,332.4/inpatient and €698.6/outpatient (p<0.001). Patients with pneumococcal CAP (n=107) showed higher comorbidity and hospitalization (76.6%), higher PSI score, larger time to recovery and higher overall costs among inpatients. Conclusions Strategies preventing CAP, thus reducing hospital admissions could likely produce substantial costs savings in addition to the reduction of CAP burden. PMID:23114195

  10. Acquired Brain Injury Program.

    ERIC Educational Resources Information Center

    Schwartz, Stacey Hunter

    This paper reviews the Acquired Brain Injury (ABI) Program at Coastline Community College (California). The ABI Program is a two-year, for-credit educational curriculum designed to provide structured cognitive retraining for adults who have sustained an ABI due to traumatic (such as motor vehicle accident or fall) or non-traumatic(such as…

  11. Acquired von Willebrand disease.

    PubMed

    Petrini, P

    1999-05-01

    Acquired von Willebrand disease (AvWD) is a syndrome that has clinical and laboratory features similar to hereditary vWD. In contrast to the latter it occurs in patients without a family history of previous bleeding tendency. PMID:23401904

  12. Infection and characterization of Toxoplasma gondii in human induced neurons from patients with brain disorders and healthy controls.

    PubMed

    Passeri, Eleonora; Jones-Brando, Lorraine; Bordón, Claudia; Sengupta, Srona; Wilson, Ashley M; Primerano, Amedeo; Rapoport, Judith L; Ishizuka, Koko; Kano, Shin-ichi; Yolken, Robert H; Sawa, Akira

    2016-02-01

    Toxoplasma gondii is a protozoan parasite capable of establishing persistent infection within the brain. Serological studies in humans have linked exposure to Toxoplasma to neuropsychiatric disorders. However, serological studies have not elucidated the related molecular mechanisms within neuronal cells. To address this question, we used human induced neuronal cells derived from peripheral fibroblasts of healthy individuals and patients with genetically-defined brain disorders (i.e. childhood-onset schizophrenia with disease-associated copy number variations). Parasite infection was characterized by differential detection of tachyzoites and tissue cysts in induced neuronal cells. This approach may aid study of molecular mechanisms underlying individual predisposition to Toxoplasma infection linked to neuropathology of brain disorders. PMID:26432947

  13. Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis

    PubMed Central

    Gasca-Salas, Carmen; Masellis, Mario; Khoo, Edwin; Shah, Binit B.; Fisman, David; Lang, Anthony E.; Kleiner-Fisman, Galit

    2016-01-01

    Background Mutations in granulin (PGRN) and tau (MAPT), and hexanucleotide repeat expansions near the C9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. Although behavior, language and movement presentations are common, the relationship between genetic subgroup and movement disorder phenomenology is unclear. Objective We conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration. Methods Electronic databases were searched using terms related to frontotemporal lobar degeneration and movement disorders. Articles were included when cases had a proven genetic cause. Study-specific prevalence estimates for clinical features were transformed using Freeman-Tukey arcsine transformation, allowing for pooled estimates of prevalence to be generated using random-effects models. Results The mean age at onset was earlier in those with MAPT mutations compared to PGRN (p<0.001) and C9orf72 (p = 0.024). 66.5% of subjects had an initial non-movement presentation that was most likely a behavioral syndrome (35.7%). At any point during the disease, parkinsonism was the most common movement syndrome reported in 79.8% followed by progressive supranuclear palsy (PSPS) and corticobasal (CBS) syndromes in 12.2% and 10.7%, respectively. The prevalence of movement disorder as initial presentation was higher in MAPT subjects (35.8%) compared to PGRN subjects (10.1). In those with a non-movement presentation, language disorder was more common in PGRN subjects (18.7%) compared to MAPT subjects (5.4%). Summary This represents the first systematic review and meta-analysis of the occurrence of movement disorder phenomenology in genetic frontotemporal lobar degeneration. Standardized prospective collection of clinical information in conjunction with genetic characterization will be crucial for accurate clinico-genetic correlation. PMID:27100392

  14. Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders

    PubMed Central

    2015-01-01

    Cornelia de Lange Syndrome (CdLS) spectrum disorders are characterized by multiple organ system congenital anomalies that result from mutations in genes encoding core cohesin proteins SMC1A, SMC3, and RAD21, or proteins that regulate cohesin function such as NIPBL and HDAC8. HDAC8 is the Zn2+-dependent SMC3 deacetylase required for cohesin recycling during the cell cycle, and 17 different HDAC8 mutants have been identified to date in children diagnosed with CdLS. As part of our continuing studies focusing on aberrant HDAC8 function in CdLS, we now report the preparation and biophysical evaluation of five human HDAC8 mutants: P91L, G117E, H180R, D233G, and G304R. Additionally, the double mutants D233G–Y306F and P91L–Y306F were prepared to enable cocrystallization of intact enzyme–substrate complexes. X-ray crystal structures of G117E, P91L–Y306F, and D233G–Y306F HDAC8 mutants reveal that each CdLS mutation causes structural changes that compromise catalysis and/or thermostability. For example, the D233G mutation disrupts the D233–K202–S276 hydrogen bond network, which stabilizes key tertiary structure interactions, thereby significantly compromising thermostability. Molecular dynamics simulations of H180R and G304R HDAC8 mutants suggest that the bulky arginine side chain of each mutant protrudes into the substrate binding site and also causes active site residue Y306 to fluctuate away from the position required for substrate activation and catalysis. Significantly, the catalytic activities of most mutants can be partially or fully rescued by the activator N-(phenylcarbamothioyl)-benzamide, suggesting that HDAC8 activators may serve as possible leads in the therapeutic management of CdLS. PMID:26463496

  15. Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

    PubMed Central

    Khanna, Richie; Powe, Allan C.; Boyd, Robert; Lee, Gary; Flanagan, John J.; Benjamin, Elfrida R.

    2011-01-01

    Abstract Many human diseases result from mutations in specific genes. Once translated, the resulting aberrant proteins may be functionally competent and produced at near-normal levels. However, because of the mutations, the proteins are recognized by the quality control system of the endoplasmic reticulum and are not processed or trafficked correctly, ultimately leading to cellular dysfunction and disease. Pharmacological chaperones (PCs) are small molecules designed to mitigate this problem by selectively binding and stabilizing their target protein, thus reducing premature degradation, facilitating intracellular trafficking, and increasing cellular activity. Partial or complete restoration of normal function by PCs has been shown for numerous types of mutant proteins, including secreted proteins, transcription factors, ion channels, G protein-coupled receptors, and, importantly, lysosomal enzymes. Collectively, lysosomal storage disorders (LSDs) result from genetic mutations in the genes that encode specific lysosomal enzymes, leading to a deficiency in essential enzymatic activity and cellular accumulation of the respective substrate. To date, over 50 different LSDs have been identified, several of which are treated clinically with enzyme replacement therapy or substrate reduction therapy, although insufficiently in some cases. Importantly, a wide range of in vitro assays are now available to measure mutant lysosomal enzyme interaction with and stabilization by PCs, as well as subsequent increases in cellular enzyme levels and function. The application of these assays to the identification and characterization of candidate PCs for mutant lysosomal enzymes will be discussed in this review. In addition, considerations for the successful in vivo use and development of PCs to treat LSDs will be discussed. PMID:21612550

  16. Characterizing Caregiver Responses to Restricted and Repetitive Behaviors in Toddlers with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Harrop, Clare; Gulsrud, Amanda; Shih, Wendy; Hovsepyan, Lilit; Kasari, Connie

    2016-01-01

    Restricted and repetitive behaviors are a core feature of autism spectrum disorder. This descriptive study documented the presence of restricted and repetitive behaviors in 85 toddlers with autism spectrum disorder as they interacted with their caregiver in a play interaction. For each child restricted and repetitive behavior, a caregiver…

  17. How I treat the acquired von Willebrand syndrome.

    PubMed

    Tiede, Andreas; Rand, Jacob H; Budde, Ulrich; Ganser, Arnold; Federici, Augusto B

    2011-06-23

    The acquired von Willebrand syndrome (AVWS) is a bleeding disorder that is frequently unrecognized or is misdiagnosed as von Willebrand disease. AVWS is characterized by structural or functional defects of von Willebrand factor (VWF) that are secondary to autoimmune, lymphoproliferative or myeloproliferative, malignant, cardiovascular, or other disorders. VWF abnormalities in these disorders can result from (1) antibody-mediated clearance or functional interference, (2) adsorption to surfaces of transformed cells or platelets, or (3) increased shear stress and subsequent proteolysis. Diagnosis can be challenging as no single test is usually sufficient to prove or exclude AVWS. Furthermore, there are no evidence-based guidelines for management. Treatments of the underlying medical condition, including chemo/radiotherapy, surgery, or immunosuppressants can result in remission of AVWS, but is not always feasible and successful. Because of the heterogeneous mechanisms of AVWS, more than one therapeutic approach is often required to treat acute bleeds and for prophylaxis during invasive procedures; the treatment options include, but are not limited to, desmopressin, VWF-containing concentrates, intravenous immunoglobulin, plasmapheresis or recombinant factor VIIa. Here, we review the management of AVWS with an overview on the currently available evidence and additional considerations for typical treatment situations. PMID:21540459

  18. Diagnosis and treatment of acquired von Willebrand syndrome.

    PubMed

    Tiede, Andreas

    2012-12-01

    Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder that is characterized by structural or functional alterations in von Willebrand factor (VWF) caused by a range of lymphoproliferative, myeloproliferative, cardiovascular, autoimmune, and other disorders. The pathogenic mechanisms responsible for the VWF abnormalities depend on the underlying condition, but include clearance due to binding of paraproteins, inhibition of VWF, adsorption to the surface of platelets, increased fluid shear stress, and resultant proteolysis or, more rarely, decreased synthesis. The diagnosis and treatment of AVWS are complicated by the need for multiple laboratory tests and the management of bleeding risk in a typically elderly population with serious underlying conditions that predispose towards thrombosis. Recently developed diagnostic algorithms, based on standard laboratory assays, may assist clinicians with the diagnostic workup and help differentiate between AVWS and von Willebrand disease (VWD) types 1 and 2. AVWS should be considered in all patients with new-onset bleeding whenever laboratory findings suggest VWD, particularly in the presence of an AVWS-associated disorder. AVWS testing is also recommended prior to surgery or an intervention with a high risk of bleeding in any individual with an AVWS-associated disorder. Treatment of the underlying condition using immunosuppressants, surgery, or chemotherapy, can lead to remission of AVWS in some individuals and should always be considered. Strategies to prevent and/or treat bleeding episodes should also be in place, including the use of VWF-containing factor VIII concentrates, desmopressin and tranexamic acid. Treatment success will depend largely on the underlying pathogenesis of the disorder. PMID:23439003

  19. Foodborne listeriosis acquired in hospitals.

    PubMed

    Silk, Benjamin J; McCoy, Morgan H; Iwamoto, Martha; Griffin, Patricia M

    2014-08-15

    Listeriosis is characterized by bacteremia or meningitis. We searched for listeriosis case series and outbreak investigations published in English by 2013, and assessed the strength of evidence for foodborne acquisition among patients who ate hospital food. We identified 30 reports from 13 countries. Among the case series, the median proportion of cases considered to be hospital-acquired was 25% (range, 9%-67%). The median number of outbreak-related illnesses considered to be hospital-acquired was 4.0 (range, 2-16). All patients were immunosuppressed in 18 of 24 (75%) reports with available data. Eight outbreak reports with strong evidence for foodborne acquisition in a hospital implicated sandwiches (3 reports), butter, precut celery, Camembert cheese, sausage, and tuna salad (1 report each). Foodborne acquisition of listeriosis among hospitalized patients is well documented internationally. The number of listeriosis cases could be reduced substantially by establishing hospital policies for safe food preparation for immunocompromised patients and by not serving them higher-risk foods. PMID:24846635

  20. Electromagnetically characterizing disordered systems: Composite material design and foliage penetrating radars

    NASA Astrophysics Data System (ADS)

    Merrill, William Melvin

    Effective electromagnetic representations of composite systems provide a useful simplification in many analyses. As the number of applications of wireless communication swells so does the need to characterize the individual systems and their coupling into and propagation through a variety of environments. This dissertation explores the utility of effective permittivity and permeability representations to simplify the electromagnetic analysis of both ordered and disordered composite systems. The necessity of an accurate account of a system's structure within an effective representations, and the need for consistency within different approaches for the same structure is shown. First, quasi-static effective representations are described, and their natural suitability is shown to grouping in terms of the connectivity of the structure they describe. Then, a consistent perturbational account of scattering within any quasi-static effective permittivity is derived. In going beyond the quasi-static limit the interplay between electric and magnetic fields within the structure being described becomes increasingly important. To demonstrate this the inclusion of electric and magnetic resonances in an ordered composite structures are demonstrated for an ordered array of dielectric spheres, and an ordered array of conducting disks. The utility of the non-static effective simplification is then demonstrated by solving for the near and far field scattered from an electric line source antenna radiating over the photonic bang gap crystal made up of arrays of the disks. In all these effective formulations the necessity of accounting for a composite's structure is emphasized, and the general characteristics differentiating similar structures within each theory are explored. After various types of effective representation are demonstrated an effective model of a forest is created at UHF and lower frequencies. This model uses the quasi- static, perturbationally non-static, and excitation

  1. Characterizing sexual function in patients with generalized anxiety disorder: a pooled analysis of three vilazodone studies

    PubMed Central

    Clayton, Anita H; Durgam, Suresh; Tang, Xiongwen; Chen, Changzheng; Ruth, Adam; Gommoll, Carl

    2016-01-01

    Background Vilazodone has been shown to reduce core symptoms of generalized anxiety disorder (GAD) in three randomized, double-blind, placebo-controlled trials. Since sexual dysfunction (SD) is not well characterized in GAD, a post hoc analysis of these trials was conducted to evaluate the effects of vilazodone on sexual functioning in GAD patients. Materials and methods Data were pooled from one fixed-dose trial of vilazodone 20 and 40 mg/day (NCT01629966) and two flexible-dose studies of vilazodone 20–40 mg/day (NCT01766401, NCT01844115) in adults with GAD. Sexual functioning was assessed using the Changes in Sexual Functioning Questionnaire (CSFQ). Outcomes included mean change from baseline to end of treatment (EOT) in CSFQ total score and percentage of patients shifting from SD at baseline (CSFQ total score ≤47 for males, ≤41 for females) to normal functioning at EOT. Treatment-emergent adverse events related to sexual functioning were also analyzed. Results A total of 1,373 patients were included in the analyses. SD at baseline was more common in females (placebo, 46.4%; vilazodone, 49%) than in males (placebo, 35.1%; vilazodone, 40.9%). CSFQ total score improvement was found in both females (placebo, +1.2; vilazodone, +1.6) and males (placebo, +2.1; vilazodone, +1.0), with no statistically significant differences between treatment groups. The percentage of patients who shifted from SD at baseline to normal sexual functioning at EOT was higher in males (placebo, 40.6%; vilazodone, 35.7%) than in females (placebo, 24.9%; vilazodone, 34.9%); no statistical testing was performed. Except for erectile dysfunction and delayed ejaculation in vilazodone-treated males (2.4% and 2.1%, respectively), no treatment-emergent adverse events related to sexual functioning occurred in ≥2% of patients in either treatment group. Conclusion Approximately 35%–50% of patients in the vilazodone GAD studies had SD at baseline. Vilazodone and placebo had similar effects on

  2. Biophysical characterization of the structural change of Nopp140, an intrinsically disordered protein, in the interaction with CK2α.

    PubMed

    Na, Jung-Hyun; Lee, Won-Kyu; Kim, Yuyoung; Jeong, Cherlhyun; Song, Seung Soo; Cha, Sun-Shin; Han, Kyou-Hoon; Shin, Yeon-Kyun; Yu, Yeon Gyu

    2016-08-19

    Nucleolar phosphoprotein 140 (Nopp140) is a nucleolar protein, more than 80% of which is disordered. Previous studies have shown that the C-terminal region of Nopp140 (residues 568-596) interacts with protein kinase CK2α, and inhibits the catalytic activity of CK2. Although the region of Nopp140 responsible for the interaction with CK2α was identified, the structural features and the effect of this interaction on the structure of Nopp140 have not been defined due to the difficulty of structural characterization of disordered protein. In this study, the disordered feature of Nopp140 and the effect of CK2α on the structure of Nopp140 were examined using single-molecule fluorescence resonance energy transfer (smFRET) and electron paramagnetic resonance (EPR). The interaction with CK2α was increased conformational rigidity of the CK2α-interacting region of Nopp140 (Nopp140C), suggesting that the disordered and flexible conformation of Nopp140C became more rigid conformation as it binds to CK2α. In addition, site specific spin labeling and EPR analysis confirmed that the residues 574-589 of Nopp140 are critical for binding to CK2α. Similar technical approaches can be applied to analyze the conformational changes in other IDPs during their interactions with binding partners. PMID:27297113

  3. Predictors of Outcome following Acquired Brain Injury in Children

    ERIC Educational Resources Information Center

    Johnson, Abigail R.; DeMatt, Ellen; Salorio, Cynthia F.

    2009-01-01

    Acquired brain injury (ABI) in children and adolescents can result from multiple causes, including trauma, central nervous system infections, noninfectious disorders (epilepsy, hypoxia/ischemia, genetic/metabolic disorders), tumors, and vascular abnormalities. Prediction of outcomes is important, to target interventions, allocate resources,…

  4. Seeing the eyes in acquired prosopagnosia.

    PubMed

    Pancaroglu, Raika; Hills, Charlotte S; Sekunova, Alla; Viswanathan, Jayalakshmi; Duchaine, Brad; Barton, Jason J S

    2016-08-01

    Case reports have suggested that perception of the eye region may be impaired more than that of other facial regions in acquired prosopagnosia. However, it is unclear how frequently this occurs, whether such impairments are specific to a certain anatomic subtype of prosopagnosia, and whether these impairments are related to changes in the scanning of faces. We studied a large cohort of 11 subjects with this rare disorder, who had a variety of occipitotemporal or anterior temporal lesions, both unilateral and bilateral. Lesions were characterized by functional and structural imaging. Subjects performed a perceptual discrimination test in which they had to discriminate changes in feature position, shape, or external contour. Test conditions were manipulated to stress focused or divided attention across the whole face. In a second experiment we recorded eye movements while subjects performed a face memory task. We found that greater impairment for eye processing was more typical of subjects with occipitotemporal lesions than those with anterior temporal lesions. This eye selectivity was evident for both eye position and shape, with no evidence of an upper/lower difference for external contour. A greater impairment for eye processing was more apparent under attentionally more demanding conditions. Despite these perceptual deficits, most subjects showed a normal tendency to scan the eyes more than the mouth. We conclude that occipitotemporal lesions are associated with a partially selective processing loss for eye information and that this deficit may be linked to loss of the right fusiform face area, which has been shown to have activity patterns that emphasize the eye region. PMID:27288649

  5. Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.

    PubMed

    Cordeiro, Lisa; Abucayan, Floridette; Hagerman, Randi; Tassone, Flora; Hessl, David

    2015-08-01

    A very high proportion of individuals with fragile X syndrome (FXS) (FMR1 full mutation, > 200 CGG repeats) experience clinically significant anxiety. Recent evidence suggests that adult fragile X premutation carriers (55-200 CGG repeats) also are at risk for anxiety disorders, and they demonstrate limbic system alterations mediated by FMRP and/or elevated FMR1 mRNA that may explain this heightened risk. However, less is known about psychiatric symptoms including anxiety among children and adolescents with the premutation. We completed structured DSM-IV based diagnostic interviews focused on current anxiety in 35 children, adolescents or young adults with the premutation (ages 5-23 years, M = 11.3 ± 4.3; 27 male; 20 probands and 15 non-probands) and 31 controls (ages 5-18 years, M = 9.9 ± 3.6; 22 males). Among premutation carriers, 70.6% met criteria for at least one anxiety disorder (most frequently generalized anxiety disorder, specific phobia, social phobia, or obsessive compulsive disorder), compared to 22.6% of controls and 9.8% of the general population in this age range. Premutation carriers with intellectual disability, male gender, and proband status were associated with the highest rates of anxiety disorders. However, non-probands did have higher rates of having any anxiety disorder (40.0%) compared to general population norms. Although the results implicate anxiety as a target of screening and intervention among youth with the premutation, larger studies of unselected samples from the population of premutation carriers are needed to confirm and specify the degree and extent of psychiatric disorders in this condition. PMID:26361563

  6. A Case Of Bilateral Acquired Localized Lipoatrophy

    PubMed Central

    Tanrıkulu, Osman; Yesilova, Yavuz; Aksoy, Mustafa

    2016-01-01

    Lipoatrophy is characterized by inflammation and tissue loss in fatty tissue. This disease may be congenital or acquired, primary or secondary. Secondary lipoatrophy develops with infections, collagen tissue diseases, tumors and drug injections. In this report, we present the case of a 14-year-old female patient who developed lipoatrophy following intramuscular steroid injection to both buttocks. PMID:27504088

  7. Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture.

    PubMed

    Kitoh, H; Nogami, H; Oki, T; Arao, K; Nagasaka, M; Tanaka, Y

    1996-01-01

    The Antley-Bixler syndrome is a rare disorder characterized by craniosynostosis, midface hypoplasia, radiohumeral synostosis, joint contractures, arachnodactyly, and femoral bowing and fractures. We report four cases with this disorder, all of which had craniosynostosis, midface hypoplasia with characteristic facial appearance, and contractures of bilateral elbow joints. However, femoral bowing, fractures, and arachnodactyly were not seen in our patients. In addition, proximal phalanges of the thumb and the great toe showed deformity of the delta phalanx in two cases. Characteristic features in these cases were the synostotic deformity of the elbow joint; three had radioulnahumeral synostosis, and one had radioulnar synostosis. Therefore, our cases indicated that various synostotic patterns of the elbow joints may exist in this syndrome. It is reasonable to propose that characteristic craniofacial appearance associated with the synostosis of the elbow joints of various forms should be considered minimal diagnostic criteria of the Antley-Bixler syndrome. PMID:8742293

  8. Childhood disintegrative disorder: a case report.

    PubMed

    Tapanadechopone, Pairath

    2015-03-01

    Childhood Disintegrative Disorder (CDD), a clinical syndrome distinctfrom childhood autism, is a rare unremittingly pervasive developmental disorder resultingfrom disintegration ofmentalfunctions and progressive neurological abnormality. This rare condition is characterized by regression or loss ofpreviously acquired language and social skills after a period of at least 2 years of normal development. This report presenting a case of a 10-year-old boy who presented with normal development until 3-4 years of age followed by gradually developmental deterioration in previously acquired social skills, language and intellectual functions with aberrant behaviors suggestive of childhood disintegrative disorder This case is reported as a very rare case and there is no previous official report in Thailand. PMID:26211118

  9. Community-acquired pneumonia.

    PubMed

    Polverino, E; Torres Marti, A

    2011-02-01

    Despite the remarkable advances in antibiotic therapies, diagnostic tools, prevention campaigns and intensive care, community-acquired pneumonia (CAP) is still among the primary causes of death worldwide, and there have been no significant changes in mortality in the last decades. The clinical and economic burden of CAP makes it a major public health problem, particularly for children and the elderly. This issue provides a clinical overview of CAP, focusing on epidemiology, economic burden, diagnosis, risk stratification, treatment, clinical management, and prevention. Particular attention is given to some aspects related to the clinical management of CAP, such as the microbial etiology and the available tools to achieve it, the usefulness of new and old biomarkers, and antimicrobial and other non-antibiotic adjunctive therapies. Possible scenarios in which pneumonia does not respond to treatment are also analyzed to improve clinical outcomes of CAP. PMID:21242952

  10. Acquired Porphyria Cutanea Tarda

    PubMed Central

    Koval, Andrew; Danby, C. W. E.; Petermann, H.

    1965-01-01

    Currently, the porphyrias are classified in four main groups: congenital porphyria, acute intermittent porphyria, porphyria cutanea tarda hereditaria, and porphyria cutanea tarda symptomatica. The acquired form of porphyria (porphyria cutanea tarda symptomatica) occurs in older males and is nearly always associated with chronic alcoholism and hepatic cirrhosis. The main clinical changes are dermatological, with excessive skin fragility and photosensitivity resulting in erosions and bullae. Biochemically, high levels of uroporphyrin are found in the urine and stools. Treatment to date has been symptomatic and usually unsuccessful. A case of porphyria cutanea tarda symptomatica is presented showing dramatic improvement of both the skin lesions and porphyrin levels in urine and blood following repeated phlebotomy. Possible mechanisms of action of phlebotomy on porphyria cutanea tarda symptomatica are discussed. ImagesFig. 1Fig. 2 PMID:14341652

  11. [ICU acquired neuromyopathy].

    PubMed

    Gueret, G; Guillouet, M; Vermeersch, V; Guillard, E; Talarmin, H; Nguyen, B-V; Rannou, F; Giroux-Metges, M-A; Pennec, J-P; Ozier, Y

    2013-09-01

    ICU acquired neuromyopathy (IANM) is the most frequent neurological pathology observed in ICU. Nerve and muscle defects are merged with neuromuscular junction abnormalities. Its physiopathology is complex. The aim is probably the redistribution of nutriments and metabolism towards defense against sepsis. The main risk factors are sepsis, its severity and its duration of evolution. IANM is usually diagnosed in view of difficulties in weaning from mechanical ventilation, but electrophysiology may allow an earlier diagnosis. There is no curative therapy, but early treatment of sepsis, glycemic control as well as early physiotherapy may decrease its incidence. The outcomes of IANM are an increase in morbi-mortality and possibly long-lasting neuromuscular abnormalities as far as tetraplegia. PMID:23958176

  12. Using Spoken Language Benchmarks to Characterize the Expressive Language Skills of Young Children With Autism Spectrum Disorders

    PubMed Central

    Weismer, Susan Ellis

    2015-01-01

    Purpose Spoken language benchmarks proposed by Tager-Flusberg et al. (2009) were used to characterize communication profiles of toddlers with autism spectrum disorders and to investigate if there were differences in variables hypothesized to influence language development at different benchmark levels. Method The communication abilities of a large sample of toddlers with autism spectrum disorders (N = 105) were characterized in terms of spoken language benchmarks. The toddlers were grouped according to these benchmarks to investigate whether there were differences in selected variables across benchmark groups at a mean age of 2.5 years. Results The majority of children in the sample presented with uneven communication profiles with relative strengths in phonology and significant weaknesses in pragmatics. When children were grouped according to one expressive language domain, across-group differences were observed in response to joint attention and gestures but not cognition or restricted and repetitive behaviors. Conclusion The spoken language benchmarks are useful for characterizing early communication profiles and investigating features that influence expressive language growth. PMID:26254475

  13. Male acquired hypogonadotropic hypogonadism: diagnosis and treatment.

    PubMed

    Salenave, Sylvie; Trabado, Sévérine; Maione, Luigi; Brailly-Tabard, Sylvie; Young, Jacques

    2012-04-01

    Acquired hypogonadotropic hypogonadism (AHH), contrary to congenital hypogonadotropic hypogonadism (CHH) is characterized by postnatal onset of disorders that damage or alter the function of gonadotropin-releasing hormone (GnRH) neurons and/or pituitary gonadotroph cells. AHH thus prevents the establishment of gonadotropin secretion at puberty, or its post-pubertal maintenance. Thus, postnatal AHH may prevent the onset of puberty or appear during pubertal development, but it usually emerges after the normal age of puberty. Although pituitary tumors, particularly prolactinoma, are the most common cause, sellar tumors or cyst of the hypothalamus or infundibulum, infiltrative, vascular, iron overload and other disorders may also cause AHH. Pituitary surgery and head trauma or cranial/pituitary radiation therapy are also usual causes of AHH. The clinical manifestations of AHH depend on age of onset, the degree of gonadotropin deficiency, the rapidity of its onset and the association to other pituitary function deficiencies or excess. Men with AHH have less stamina, decreased libido, erectile dysfunction and strength, and a worsened sense of well being leading to degraded quality of life. The physical examination is usually normal if hypogonadism is of recent onset. Diminished facial, body hair and muscle mass, fine facial wrinkles, gynecomastia, and hypotrophic testes are observed in long-standing and complete AHH. Spermatogenesis is impaired and the volume of ejaculate is decreased only when gonadotropins and testosterone levels are very low. Men with AHH may have normal or low serum LH and FSH concentrations, but normal gonadotropin values are inappropriate when associated with low serum testosterone. In the majority of AHH patients, serum inhibin B is "normal". The decrease of this sertolian hormone indicates a long-standing and severe gonadotropin deficiency. Symptoms, usually associated with significant testosterone deficiency in men with AHH, improve with

  14. Attention deficit and hyperactivity disorder/learning disabilities (ADHD/LD): parental characterization and perception.

    PubMed

    Brook, Uzi; Boaz, Mona

    2005-04-01

    Sixty-six parents of adolescents (mean age, 14.8 years), who attended special education classes and who were diagnosed as having attention deficit and hyperactivity disorder/learning disabilities (ADHD/LD), were interviewed. The comorbidity of the ADHD group included emotional lability and/or depression, 70%; oppositional defiant disorder (ODD), 67%; obsessive-compulsive disorder (OCD), 44%; addiction to buying, 44%; and aggressiveness, 62%. Twenty-one percent were either involved in the past or presently using drugs. Nine percent had attempted suicide. According to their parents, the main characteristic of these adolescents was low self-image. Parents enumerated five negative characteristics: impulsiveness; nervousness; angered easily ('short fused'); aggressiveness with cursing and outbursts; and impaired sociability with impoliteness. PMID:15797157

  15. Fabrication and characterization of highly disordered TiN thin films by reactive evaporation for circuit-QED

    NASA Astrophysics Data System (ADS)

    Lin, Yen-Hsiang; Mencia, Raymond; Nguyen, Baolong; Manucharyan, Vladimir

    Titanium nitride (TiN) has been identified as one of the potentially new materials for circuit-QED. In particular, disordered TiN films close to superconductor-insulator transition can be beneficial to greatly enhance kinetic inductance due to low superfluid density. Here we report TiN thin films prepared by e-beam evaporation within a nitrogen rich environment. By controlling nitrogen gas flow rate, the normal sheet resistance of TiN film can be tuned higher than 1kOhms while superconductivity still remains above 2K. Here, we present our characterization results and microwave measurement of quality factor Q and kinetic inductance L.

  16. Using the Preschool Language Scale, Fourth Edition to Characterize Language in Preschoolers with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Volden, Joanne; Smith, Isabel M.; Szatmari, Peter; Bryson, Susan; Fombonne, Eric; Mirenda, Pat; Roberts, Wendy; Vaillancourt, Tracy; Waddell, Charlotte; Zwaigenbaum, Lonnie; Georgiades, Stelios; Duku, Eric; Thompson, Ann

    2011-01-01

    Purpose: The Preschool Language Scale, Fourth Edition (PLS-4; Zimmerman, Steiner, & Pond, 2002) was used to examine syntactic and semantic language skills in preschool children with autism spectrum disorders (ASD) to determine its suitability for use with this population. We expected that PLS-4 performance would be better in more intellectually…

  17. Laboratory issues in bleeding disorders.

    PubMed

    Lillicrap, D; Nair, S C; Srivastava, A; Rodeghiero, F; Pabinger, I; Federici, A B

    2006-07-01

    The clinical history of the patient and of his/her relatives is the most important tool for making correct diagnosis of inherited or acquired bleeding disorders. Several attempts have been made by clinicians to evaluate the sensitivity and specificity of bleeding symptoms. Specific and detailed questionnaires have been designed to quantify the bleeding tendency of patients with von Willebrand's disease (VWD) and a bleeding score has been calculated. VWD is considered the most frequent inherited bleeding disorder according to population studies: however, due to the complexity of its diagnosis, the number of patients with correct diagnosis of VWD in many developing countries is relatively low and most cases remain still under- or misdiagnosed. Once bleeding history is carefully evaluated by means of a bleeding score, the laboratory workout should be organized to find out the specific defect of haemostasis responsible for bleeding. Since factors involved in haemostasis are many, the correct approach must include first level screening tests with the aim to identify the abnormal phase of haemostasis involved: then, second level tests should be focused on the specific factors within the abnormal step of haemostasis. Among many other acquired bleeding disorders related to clinical conditions or to the use of drugs, the acquired inhibitors of haemostasis are rare but should be immediately characterized by appropriate laboratory tests because they can be often life-threatening for the patients. PMID:16683999

  18. Biochemical and Molecular Characterization of a Novel Cu/Zn Superoxide Dismutase from Amaranthus hypochondriacus L.: an Intrinsically Disordered Protein.

    PubMed

    Montero-Morán, Gabriela M; Sampedro, José G; Saab-Rincón, Gloria; Cervantes-González, Miguel A; Huerta-Ocampo, José Á; De León-Rodríguez, Antonio; Barba de la Rosa, Ana P

    2015-08-01

    A novel Cu/ZnSOD from Amaranthus hypochondriacus was cloned, expressed, and characterized. Nucleotide sequence analysis showed an open reading frame (ORF) of 456 bp, which was predicted to encode a 15.6-kDa molecular weight protein with a pI of 5.4. Structural analysis showed highly conserved amino acid residues involved in Cu/Zn binding. Recombinant amaranth superoxide dismutase (rAhSOD) displayed more than 50 % of catalytic activity after incubation at 100 °C for 30 min. In silico analysis of Amaranthus hypochondriacus SOD (AhSOD) amino acid sequence for globularity and disorder suggested that this protein is mainly disordered; this was confirmed by circular dichroism, which showed the lack of secondary structure. Intrinsic fluorescence studies showed that rAhSOD undergoes conformational changes in two steps by the presence of Cu/Zn, which indicates the presence of two binding sites displaying different affinities for metals ions. Our results show that AhSOD could be classified as an intrinsically disordered protein (IDP) that is folded when metals are bound and with high thermal stability. PMID:26129702

  19. [CHARACTERIZATION OF VESTIBULAR DISORDERS IN THE INJURED PERSONS WITH THE BRAIN CONCUSSION IN ACUTE PERIOD].

    PubMed

    Skobska, O E; Kadzhaya, N V; Andreyev, O A; Potapov, E V

    2015-04-01

    There were examined 32 injured persons, ageing (34.1 ± 1.3) yrs at average, for the brain commotion (BC). The adopted protocol SCAT-3 (Standardized Concussion Assessment Tool, 3rd ed.), DHI (Dizziness Handicap Inventory questionnaire), computer stabilography (KS) were applied for the vestibular disorders diagnosis. There was established, that in acute period of BC a dyssociation between regression of objective neurological symptoms and permanence of the BC indices occurs, what confirms a latent disorder of the balance function. Changes of basic indices of statokinesiography, including increase of the vibration amplitude enhancement in general centre of pressure in a saggital square and the BC square (235.3 ± 13.7) mm2 in a modified functional test of Romberg with the closed eyes is possible to apply as objective criteria for the BC diagnosis. PMID:26263645

  20. Characterization of nutrient disorders of pot rose ‘Karina Parade’

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Pot rose cultivar ‘Karina Parade’ plants were grown in silica sand culture to induce and photograph nutritional disorder symptoms. Plants were grown with a complete modified Hoagland's all nitrate solution: (macronutrients in mM) 15 NO3-N, 1.0 PO4-P, 6.0 K, 5.0 Ca, 2.0 Mg, and 2.0 SO4-S, plus 'M con...

  1. Characterization of nutrient disorders of gerbera hybrid 'Festival Light Eye Pink'

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Gerbera hybrid ‘Festival Yellow with Light Eye’ plants were grown in silica sand culture to induce and photograph nutritional disorder symptoms. Plants were grown with a complete modified Hoagland's all nitrate solution: (macronutrients in mM) 15 NO3-N, 1.0 PO4-P, 6.0 K, 5.0 Ca, 2.0 Mg, and 2.0 SO4...

  2. Characterization of Nutrient Disorders of Primula acaulis ‘Danova Rose'

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Primula acaulis ‘Danova Rose’ plants were grown in silica sand culture to induce and photograph nutritional disorder symptoms. Plants were grown with a complete modified Hoagland's all nitrate solution: (macronutrients in mM) 15 NO3-N, 1.0 PO4-P, 6.0 K, 5.0 Ca, 2.0 Mg, and 2.0 SO4-S, plus micromola...

  3. Characterization of nutrient disorders of Pericallis x hybrida ‘Jester Pure Blue’

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cineraria cruentus ‘Jester Purple Blue’ plants were grown in silica sand culture to induce and photograph nutritional disorder symptoms. Plants were grown with a complete modified Hoagland's all nitrate solution: (macronutrients in mM) 15 NO3-N, 1.0 PO4-P, 6.0 K, 5.0 Ca, 2.0 Mg, and 2.0 SO4-S, plus...

  4. Fractal analysis of MRI data for the characterization of patients with schizophrenia and bipolar disorder

    NASA Astrophysics Data System (ADS)

    Squarcina, Letizia; De Luca, Alberto; Bellani, Marcella; Brambilla, Paolo; Turkheimer, Federico E.; Bertoldo, Alessandra

    2015-02-01

    Fractal geometry can be used to analyze shape and patterns in brain images. With this study we use fractals to analyze T1 data of patients affected by schizophrenia or bipolar disorder, with the aim of distinguishing between healthy and pathological brains using the complexity of brain structure, in particular of grey matter, as a marker of disease. 39 healthy volunteers, 25 subjects affected by schizophrenia and 11 patients affected by bipolar disorder underwent an MRI session. We evaluated fractal dimension of the brain cortex and its substructures, calculated with an algorithm based on the box-count algorithm. We modified this algorithm, with the aim of avoiding the segmentation processing step and using all the information stored in the image grey levels. Moreover, to increase sensitivity to local structural changes, we computed a value of fractal dimension for each slice of the brain or of the particular structure. To have reference values in comparing healthy subjects with patients, we built a template by averaging fractal dimension values of the healthy volunteers data. Standard deviation was evaluated and used to create a confidence interval. We also performed a slice by slice t-test to assess the difference at slice level between the three groups. Consistent average fractal dimension values were found across all the structures in healthy controls, while in the pathological groups we found consistent differences, indicating a change in brain and structures complexity induced by these disorders.

  5. Fractal analysis of MRI data for the characterization of patients with schizophrenia and bipolar disorder.

    PubMed

    Squarcina, Letizia; De Luca, Alberto; Bellani, Marcella; Brambilla, Paolo; Turkheimer, Federico E; Bertoldo, Alessandra

    2015-02-21

    Fractal geometry can be used to analyze shape and patterns in brain images. With this study we use fractals to analyze T1 data of patients affected by schizophrenia or bipolar disorder, with the aim of distinguishing between healthy and pathological brains using the complexity of brain structure, in particular of grey matter, as a marker of disease. 39 healthy volunteers, 25 subjects affected by schizophrenia and 11 patients affected by bipolar disorder underwent an MRI session. We evaluated fractal dimension of the brain cortex and its substructures, calculated with an algorithm based on the box-count algorithm. We modified this algorithm, with the aim of avoiding the segmentation processing step and using all the information stored in the image grey levels. Moreover, to increase sensitivity to local structural changes, we computed a value of fractal dimension for each slice of the brain or of the particular structure. To have reference values in comparing healthy subjects with patients, we built a template by averaging fractal dimension values of the healthy volunteers data. Standard deviation was evaluated and used to create a confidence interval. We also performed a slice by slice t-test to assess the difference at slice level between the three groups. Consistent average fractal dimension values were found across all the structures in healthy controls, while in the pathological groups we found consistent differences, indicating a change in brain and structures complexity induced by these disorders. PMID:25633275

  6. Influence of the segmentation on the characterization of cerebral networks of structural damage for patients with disorders of consciousness

    NASA Astrophysics Data System (ADS)

    Martínez, Darwin; Mahalingam, Jamuna J.; Soddu, Andrea; Franco, Hugo; Lepore, Natasha; Laureys, Steven; Gómez, Francisco

    2015-01-01

    Disorders of consciousness (DOC) are a consequence of a variety of severe brain injuries. DOC commonly results in anatomical brain modifications, which can affect cortical and sub-cortical brain structures. Postmortem studies suggest that severity of brain damage correlates with level of impairment in DOC. In-vivo studies in neuroimaging mainly focus in alterations on single structures. Recent evidence suggests that rather than one, multiple brain regions can be simultaneously affected by this condition. In other words, DOC may be linked to an underlying cerebral network of structural damage. Recently, geometrical spatial relationships among key sub-cortical brain regions, such as left and right thalamus and brain stem, have been used for the characterization of this network. This approach is strongly supported on automatic segmentation processes, which aim to extract regions of interests without human intervention. Nevertheless, patients with DOC usually present massive structural brain changes. Therefore, segmentation methods may highly influence the characterization of the underlying cerebral network structure. In this work, we evaluate the level of characterization obtained by using the spatial relationships as descriptor of a sub-cortical cerebral network (left and right thalamus) in patients with DOC, when different segmentation approaches are used (FSL, Free-surfer and manual segmentation). Our results suggest that segmentation process may play a critical role for the construction of robust and reliable structural characterization of DOC conditions.

  7. Therapeutic approaches to acquired von Willebrand syndrome.

    PubMed

    Federici, A B

    2000-02-01

    Acquired von Willebrand syndrome (AVWS) is a rare acquired bleeding disorder similar to the congenital von Willebrand disease (VWD) in terms of laboratory findings. Diagnosis of AVWS can be very difficult, with treatment normally taking an empirical form. Although more than 200 cases have been reported since 1968, no retrospective or prospective studies are available on AVWS. Recently, an International Registry on AVWS, gathering data directly from worldwide Departments of Haematology-Oncology and Haemophilia Centres, has been organised by a group working on behalf of the Subcommittee on VWF in the Scientific Standardisation Committee (SSC) of International Society on Thrombosis and Haemostasis (ISTH). Information about an additional 211 AVWS patients is now available, with more detailed data on demography, type of haemorrhage, diagnostic tests for AVWS and management of bleeding episodes. The additional 211 AVWS cases are associated with lymphoproliferative (47%) or myeloproliferative (19%) disorders, cardiovascular diseases, neoplasia (7%) and other miscellaneous diseases (14%). Bleeding episodes of AVWS patients were managed by different compounds including desmopressin (22%), FVIII/VWF concentrates (26%) and high-dose immunoglobulin (10%), plasmapheresis (2%), steroids (5%) and immunosuppressive drugs (20%). Based on complied data, we can conclude that none of the therapeutic approaches proposed are 100% effective in all AVWS cases. Therefore, treatment must be customized for each patient according to the underlying disorder, as well as to the type and the severity of bleeding episode and must be targeted to each specific case. PMID:11060681

  8. Ultrasound of Inherited vs. Acquired Demyelinating Polyneuropathies

    PubMed Central

    Zaidman, Craig M.; Harms, Matthew B.; Pestronk, Alan

    2013-01-01

    Introduction We compared features of nerve enlargement in inherited and acquired demyelinating neuropathies using ultrasound. Methods We measured median and ulnar nerve cross-sectional areas in proximal and distal regions in 128 children and adults with inherited (Charcot-Marie Tooth-1 (CMT-1) (n=35)) and acquired (Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) (n=55), Guillaine-Barre Syndrome (GBS) (n=21) and Multifocal Motor Neuropathy (MMN) (n=17)) demyelinating neuropathies. We classified nerve enlargement by degree and number of regions affected. We defined patterns of nerve enlargement as: none- no enlargement; mild-nerves enlarged but never more than twice normal; regional- nerves normal at at least one region and enlarged more than twice normal at atleast one region; diffuse- nerves enlarged at all four regions with atleast one region more than twice normal size. Results Nerve enlargement was commonly diffuse (89%) and generally more than twice normal size in CMT-1, but not (p<0.001) in acquired disorders which mostly had either no, mild or regional nerve enlargement (CIDP (64%), GBS (95%), and MMN (100%)). In CIDP, subjects treated within three months of disease onset had less nerve enlargement than those treated later. Discussion Ultrasound identified patterns of diffuse nerve enlargement can be used to screen patients suspected of having CMT-1. Normal, mildly, or regionally enlarged nerves in demyelinating polyneuropathy suggests an acquired etiology. Early treatment in CIDP may impede nerve enlargement. PMID:24101129

  9. 16 CFR 801.2 - Acquiring and acquired persons.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... confer control of X and therefore will file as an acquiring person. Because A held the plant prior to the... within two persons, “A” and “B.” Under this section, if V is to acquire corporation X, both “A” and “B... person. Examples: 1. Assume that person “Q” will acquire voting securities of corporation X held by...

  10. 16 CFR 801.2 - Acquiring and acquired persons.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... confer control of X and therefore will file as an acquiring person. Because A held the plant prior to the... within two persons, “A” and “B.” Under this section, if V is to acquire corporation X, both “A” and “B... person. Examples: 1. Assume that person “Q” will acquire voting securities of corporation X held by...

  11. Multifocal Motor Neuropathy, Multifocal Acquired Demyelinating Sensory and Motor Neuropathy and Other Chronic Acquired Demyelinating Polyneuropathy Variants

    PubMed Central

    Barohn, Richard J.; Katz, Jonathan

    2014-01-01

    Chronic acquired demyelinating neuropathies (CADP) are an important group of immune neuromuscular disorders affecting myelin. These are distinct from chronic inflammatory demyelinating polyneuropathy (CIDP). Classically, CIDP is characterized by proximal and distal weakness, large fiber sensory loss, elevated cerebrospinal fluid (CSF) protein content, demyelinating changes nerve conduction studies or nerve biopsy, and response to immunomodulating treatment. In this chapter we discuss CADP with emphasis on multifocal motor neuropathy (MMN), multifocal acquired demyelinating sensory and motor neuropathy (MADSAM), distal acquired demyelinating symmetric (DADS) neuropathy and conclude with less common variants. While each of these entities has distinctive laboratory and electrodiagnostic features that aid in their diagnosis, clinical characteristics are of paramount importance in diagnosing specific conditions and determining the most appropriate therapies. Unlike CIDP, MMN is typically asymmetric and affects only the motor nerve fibers. MMN is a rare disease that presents chronically, over several years of progression affecting the arms are more commonly than the legs. Men are more likely than women to develop MMN. MADSAM should be suspected in patients who have weakness and loss of sensation in primarily one arm or leg which progresses slowly over several months to years. It is important in patient with multifocal demyelinating clinical presentation to distinguish MMN from MADSAM since corticosteroids are not effective in MMN where the mainstay of therapy is intravenous gammaglobulin (IVIg). DADS can be subdivided into DADS-M (associated woth M-protein) and DADS-I which is idioapthic. While DADS-I patients respond somewhat to immunotherapy, DADS-M patients present with distal predominant sensorimotor demyelinating neuropathy phenotype and are notoriously refractory to immunotherapies regardless of antibodies to myelin-associated glycoprotein (MAG). Our knowledge

  12. A case series of acquired haemophilia in a Malaysian hospital: unpredictably rare medical emergency.

    PubMed

    Lee, Chiou Perng; Khalid, Bahariah Bt

    2015-10-01

    Acquired haemophilia (AH) is a rare bleeding disorder characterized by the presence of acquired inhibitors against Factor VIII causing disruption of coagulation cascade. It has no known genetic inheritance, and diagnosis remains a challenge. The peculiar presentations are later age of onset as acute pain in weight-bearing joints and spontaneous muscle haematoma with isolated prolonged activated partial thrombin time (APTT). Prevalence is 1 per million per year affecting both genders equally where blood product transfusion is seen in almost 87% of cases. The direct cause of AH is still unknown, and autoimmune dysregulation has been postulated, which predisposes to the development of the factor inhibitors. Being extremely rare, we are reporting two consecutive patients diagnosed by unusual bleeding episodes with isolated prolonged APTT due to Factor VIII inhibitors. AH deserves a special mention as high index of suspicion is required. More studies are required to provide better guidance in diagnosis and management of this condition. PMID:26568837

  13. Attention Deficit Hyperactivity Disorder and Tuberous Sclerosis Complex

    MedlinePlus

    ... defiant disorder (ODD), conduct disorder, anxiety disorder, depression, bipolar disorder, Tourette’s syndrome, and a range of learning disorders. ... disorder, and sadness or irritability characterizes childhood depression. Bipolar disorder is uncommon in children, but almost all the ...

  14. Collimated microfiber spectroscopy for optical characterization of disordered porous anodic alumina

    NASA Astrophysics Data System (ADS)

    Yoneda, Satoshi; Kimura, Saho; Yamaguchi, Akira; Kimura, Daiki; Ohkoshi, Yutaka; Yamanaka, Shigeru; Usami, Hisanao

    2016-02-01

    A novel collimated microfiber spectroscopy technique using an optical fiber probe with microball lens was developed to observe the photonic crystalline characteristics of porous anodized alumina (PAA) slabs with disordered arrays of holes. Transmittance spectra of the PAA slab observed by the microfiber probe with ball lens showed a broad valley at ∼410 nm; conversely, no significant valley was observed by an ordinary microfiber spectroscope without ball lens. The broad valley was comparable with that observed in a spectrum simulated for a model based on a scanning electron microscopy image of the PAA slab by using the finite-difference time-domain method.

  15. Pathophysiology of acquired von Willebrand disease: a concise review.

    PubMed

    Shetty, Shrimati; Kasatkar, Priyanka; Ghosh, Kanjaksha

    2011-08-01

    Acquired von Willebrand disease (AVWD) is a rare, underdiagnosed hemorrhagic disorder, which is similar to congenital VWD with regard to the clinical and laboratory parameters; however, it is found in individuals with no positive family history and has no genetic basis. The etiology is varied, the commonest being hematoproliferative disorders and cardiovascular disorders. Other disorders associated with AVWD are autoimmune disorders such as systematic lupus erythematosus, hypothyroidism, and neoplasia, or it may also be drug induced. In quite a few cases, the etiology is unknown. The pathogenic mechanisms are different in different underlying disorders or they may be overlapping among these disorders. Some of the proposed mechanisms include the development of autoantibodies, selective absorption of high molecular weight von Willebrand factor (VWF) multimers, non-selective absorption of VWF, mechanical destruction of VWF under high shear stress, and increased proteolysis. This report presents a concise review of the pathophysiological mechanisms of AVWD in these various underlying conditions. PMID:21535159

  16. 16 CFR 801.2 - Acquiring and acquired persons.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... acquired person is the pre-acquisition ultimate parent entity of the entity. (ii) The value of an... directors of B. A is deemed to be acquiring all of the assets of B as a result. (g) Transfers of patent... transfer of patent rights covered by this paragraph constitutes an asset acquisition; and (3) Patent...

  17. Epidemic spreading model to characterize misfolded proteins propagation in aging and associated neurodegenerative disorders.

    PubMed

    Iturria-Medina, Yasser; Sotero, Roberto C; Toussaint, Paule J; Evans, Alan C

    2014-11-01

    Misfolded proteins (MP) are a key component in aging and associated neurodegenerative disorders. For example, misfolded Amyloid-ß (Aß) and tau proteins are two neuropathogenic hallmarks of Alzheimer's disease. Mechanisms underlying intra-brain MP propagation/deposition remain essentially uncharacterized. Here, is introduced an epidemic spreading model (ESM) for MP dynamics that considers propagation-like interactions between MP agents and the brain's clearance response across the structural connectome. The ESM reproduces advanced Aß deposition patterns in the human brain (explaining 46∼56% of the variance in regional Aß loads, in 733 subjects from the ADNI database). Furthermore, this model strongly supports a) the leading role of Aß clearance deficiency and early Aß onset age during Alzheimer's disease progression, b) that effective anatomical distance from Aß outbreak region explains regional Aß arrival time and Aß deposition likelihood, c) the multi-factorial impact of APOE e4 genotype, gender and educational level on lifetime intra-brain Aß propagation, and d) the modulatory impact of Aß propagation history on tau proteins concentrations, supporting the hypothesis of an interrelated pathway between Aß pathophysiology and tauopathy. To our knowledge, the ESM is the first computational model highlighting the direct link between structural brain networks, production/clearance of pathogenic proteins and associated intercellular transfer mechanisms, individual genetic/demographic properties and clinical states in health and disease. In sum, the proposed ESM constitutes a promising framework to clarify intra-brain region to region transference mechanisms associated with aging and neurodegenerative disorders. PMID:25412207

  18. Epidemic Spreading Model to Characterize Misfolded Proteins Propagation in Aging and Associated Neurodegenerative Disorders

    PubMed Central

    Iturria-Medina, Yasser; Sotero, Roberto C.; Toussaint, Paule J.; Evans, Alan C.

    2014-01-01

    Misfolded proteins (MP) are a key component in aging and associated neurodegenerative disorders. For example, misfolded Amyloid-ß (Aß) and tau proteins are two neuropathogenic hallmarks of Alzheimer's disease. Mechanisms underlying intra-brain MP propagation/deposition remain essentially uncharacterized. Here, is introduced an epidemic spreading model (ESM) for MP dynamics that considers propagation-like interactions between MP agents and the brain's clearance response across the structural connectome. The ESM reproduces advanced Aß deposition patterns in the human brain (explaining 46∼56% of the variance in regional Aß loads, in 733 subjects from the ADNI database). Furthermore, this model strongly supports a) the leading role of Aß clearance deficiency and early Aß onset age during Alzheimer's disease progression, b) that effective anatomical distance from Aß outbreak region explains regional Aß arrival time and Aß deposition likelihood, c) the multi-factorial impact of APOE e4 genotype, gender and educational level on lifetime intra-brain Aß propagation, and d) the modulatory impact of Aß propagation history on tau proteins concentrations, supporting the hypothesis of an interrelated pathway between Aß pathophysiology and tauopathy. To our knowledge, the ESM is the first computational model highlighting the direct link between structural brain networks, production/clearance of pathogenic proteins and associated intercellular transfer mechanisms, individual genetic/demographic properties and clinical states in health and disease. In sum, the proposed ESM constitutes a promising framework to clarify intra-brain region to region transference mechanisms associated with aging and neurodegenerative disorders. PMID:25412207

  19. Characterizing Objective Quality of Life and Normative Outcomes in Adults with Autism Spectrum Disorder: An Exploratory Latent Class Analysis.

    PubMed

    Bishop-Fitzpatrick, Lauren; Hong, Jinkuk; Smith, Leann E; Makuch, Renee A; Greenberg, Jan S; Mailick, Marsha R

    2016-08-01

    This study aims to extend the definition of quality of life (QoL) for adults with autism spectrum disorder (ASD, n = 180, ages 23-60) by: (1) characterizing the heterogeneity of normative outcomes (employment, independent living, social engagement) and objective QoL (physical health, neighborhood quality, family contact, mental health issues); and (2) identifying predictors of positive normative outcomes and good objective QoL. Findings of an exploratory latent class analysis identified three groups of adults with ASD-Greater Dependence, Good Physical and Mental Health, and Greater Independence. Findings indicate that better daily living skills, better executive function, and more maternal warmth are associated with assignment to better outcome groups. Findings have implications for interventions designed to enhance achievement of normative outcomes and objective QoL. PMID:27207091

  20. Life-threatening hemorrhage from acquired hemophilia A as a presenting manifestation of prostate cancer.

    PubMed

    Sheth, Chirag; Gill, Amandeep; Sekhon, Sumeet

    2016-01-01

    Acquired factor VIII deficiency (acquired hemophilia A) is a rare condition characterized by the acquisition of autoantibodies that affect the clotting activity of factor VIII (fVIII). The most common manifestation in affected patients is a hemorrhagic diathesis. This disorder is associated with autoimmune diseases, pregnancy, postpartum period, drugs, and malignancy. Management of this condition begins with attempts to arrest an acute bleed based on the site and severity of bleeding and inhibitor titer. The next priority is eradication of the fVIII antibodies using immunosuppressive therapies. We report the case of a 66-year-old male who presented with spontaneous right thigh hematoma with prolonged activated partial prothrombin time and normal prothrombin time. Mixing studies confirmed the presence of an inhibitor. Further investigation for the underlying etiology of acquired hemophilia A leads to diagnosis of prostate cancer. Treatment consisted of bypassing agents including activated factor VII and activated prothrombin plasma concentrate to arrest the bleeding. Steroids and cyclophosphamide were added to suppress the fVIII inhibitors. Concomitant treatment of locally advanced prostate cancer with chemotherapy confirmed the eradication of the inhibitors. To our knowledge, this is the first reported case of prostate cancer diagnosed and treated simultaneously with acquired hemophilia A resulting in favorable patient outcome. PMID:27609734

  1. Children Acquire Emotion Categories Gradually

    ERIC Educational Resources Information Center

    Widen, Sherri C.; Russell, James A.

    2008-01-01

    Some accounts imply that basic-level emotion categories are acquired early and quickly, whereas others imply that they are acquired later and more gradually. Our study examined this question for fear, happiness, sadness, and anger in the context of children's categorization of emotional facial expressions. Children (N=168, 2-5 years) first labeled…

  2. Experimental Characterization of the Order-Disorder Transition of a Gold-Rich COPPER(3)-GOLD(100) Surface

    NASA Astrophysics Data System (ADS)

    Rivers, Steven B.

    The order-disorder transition of a Au-rich Cu _3Au{001 } surface has been characterized using synchrotron x-ray scattering. Cu_3Au is a prototypical system for ordering alloys which undergo a first-order bulk phase transition. The specific bulk composition of our sample is CU_{72.1}AU _{27.9}. An important advantage of x-ray scattering is that it can be used to investigate both the bulk and the near-surface region. The disorder-to-order-transformation at the surface occurs at a temperature about 15^circ C above the bulk transition temperature as revealed by x-ray measurements. Recently Lipowsky proposed a Landau -Ginzburg type model that addresses the issue of surface -induced order and disorder. The language developed in this model is useful for describing our results. However, the Hamiltonian is not general enough to treat nonstoichiometric compositions and therefore no quantitative description is possible. Antiphase domain boundaries are found to form parallel to the surface in a long-range periodic structure. This structure produces satellites in the superstructure diffraction line shapes. We analyze this phenomenon in terms of several models including the formation of a new phase, a two-phase mixture, and the interaction between the Fermi surface and the Brillouin Zone. The time dependence of the growth of the ordered domains from 10^3 to 10 ^5 seconds was investigated through the measurement of the superstructure beam profile following a quench from the disordered state to final temperatures below both the surface and bulk transition temperatures. Quenches to temperatures below the surface transition temperature resulted in power law growth. However, quenches below the bulk transition temperature resulted in domain growth that could not be described by a power law even for the longest times studied. In both cases the kinetics of the domain growth was substantially slower than that previously reported for the bulk, which is known to follow a power law with a

  3. Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders.

    PubMed

    Urraca, Nora; Memon, Rawaha; El-Iyachi, Ikbale; Goorha, Sarita; Valdez, Colleen; Tran, Quynh T; Scroggs, Reese; Miranda-Carboni, Gustavo A; Donaldson, Martin; Bridges, Dave; Reiter, Lawrence T

    2015-11-01

    A major challenge to the study and treatment of neurogenetic syndromes is accessing live neurons for study from affected individuals. Although several sources of stem cells are currently available, acquiring these involve invasive procedures, may be difficult or expensive to generate and are limited in number. Dental pulp stem cells (DPSCs) are multipotent stem cells that reside deep the pulp of shed teeth. To investigate the characteristics of DPSCs that make them a valuable resource for translational research, we performed a set of viability, senescence, immortalization and gene expression studies on control DPSC and derived neurons. We investigated the basic transport conditions and maximum passage number for primary DPSCs. We immortalized control DPSCs using human telomerase reverse transcriptase (hTERT) and evaluated neuronal differentiation potential and global gene expression changes by RNA-seq. We show that neurons from immortalized DPSCs share morphological and electrophysiological properties with non-immortalized DPSCs. We also show that differentiation of DPSCs into neurons significantly alters gene expression for 1305 transcripts. Here we show that these changes in gene expression are concurrent with changes in protein levels of the transcriptional repressor REST/NRSF, which is known to be involved in neuronal differentiation. Immortalization significantly altered the expression of 183 genes after neuronal differentiation, 94 of which also changed during differentiation. Our studies indicate that viable DPSCs can be obtained from teeth stored for ≥72 h, these can then be immortalized and still produce functional neurons for in vitro studies, but that constitutive hTERT immortalization is not be the best approach for long term use of patient derived DPSCs for the study of disease. PMID:26599327

  4. Clinicopathological associations of acquired erythroblastopenia

    PubMed Central

    Gunes, Gursel; Malkan, Umit Yavuz; Yasar, Hatime Arzu; Eliacik, Eylem; Haznedaroglu, Ibrahim Celalettin; Demiroglu, Haluk; Sayinalp, Nilgun; Aksu, Salih; Etgul, Sezgin; Aslan, Tuncay; Goker, Hakan; Ozcebe, Osman Ilhami; Buyukasik, Yahya

    2015-01-01

    Introduction: Acquired erythroblastopenia (AE) is a rare clinical situation. It is characterized by the reduction of erythroid precursors in the bone marrow together with the low reticulocyte counts in the peripheral blood. Background: Main secondary causes of AE are drugs, Parvovirus B19 and other infectious reasons, lymphoid and myeloid neoplasia, autoimmune diseases, thymoma and pregnancy. The aim of this study is to assess the frequencies and clinical associations of AE via analyzing 12340 bone marrow samples in a retrospective manner. Material and method: Bone marrow aspirations which were obtained from patients who applied to Hacettepe University Hematology Clinic between 2002 and 2013, were analyzed retrospectively. Results: Thirty four erythroblastopenia cases were found. Patients ranged in age from 16 to 80 years with a median of 38 years. Fifteen patients were men (44%) and nineteen were women (56%). In these patients, detected causes of erythroblastopenia were MDS, idiopathic pure red cell aplasia (PRCA), parvovirus infection, post chemotherapy aplasia, plasma proliferative diseases, copper deficiency due to secondary amyloidosis, fever of unknown origin, hemophagocytic syndrome, enteric fever and legionella pneumonia. We found that between those reasons the most common causes of erythroblastopenia are MDS (17.7%) and idiopathic PRCA (17.7%). Discussion: As a result, erythroblastopenia in the bone marrow may be an early sign of MDS. In those AE cases possibility of being MDS must be kept in mind as it can be mistaken for PRCA. Conclusion: To conclude, in adults MDS without excess blast is one of the most common causes of erythroblastopenia in clinical practice and in case of erythroblastopenia the presence of MDS should be investigated. PMID:26885236

  5. Prospective neurochemical characterization of child offspring of parents with bipolar disorder.

    PubMed

    Singh, Manpreet K; Jo, Booil; Adleman, Nancy E; Howe, Meghan; Bararpour, Layla; Kelley, Ryan G; Spielman, Daniel; Chang, Kiki D

    2013-11-30

    We wished to determine whether decreases in N-acetyl aspartate (NAA) and increases in myoinositol (mI) concentrations as a ratio of creatine (Cr) occurred in the dorsolateral prefrontal cortex (DLPFC) of pediatric offspring of parents with bipolar disorder (BD) and a healthy comparison group (HC) over a 5-year period using proton magnetic resonance spectroscopy ((1)H-MRS). Paticipants comprised 64 offspring (9-18 years old) of parents with BD (36 with established BD, and 28 offspring with symptoms subsyndromal to mania) and 28 HCs, who were examined for group differences in NAA/Cr and mI/Cr in the DLPFC at baseline and follow-up at either 8, 10, 12, 52, 104, 156, 208, or 260 weeks. No significant group differences were found in metabolite concentrations at baseline or over time. At baseline, BD offspring had trends for higher mI/Cr concentrations in the right DLPFC than the HC group. mI/Cr concentrations increased with age, but no statistically significant group differences were found between groups on follow-up. It may be the case that with intervention youth at risk for BD are normalizing otherwise potentially aberrant neurochemical trajectories in the DLPFC. A longer period of follow-up may be required before observing any group differences. PMID:24028795

  6. Prospective neurochemical characterization of child offspring of parents with bipolar disorder

    PubMed Central

    Singh, Manpreet K.; Jo, Booil; Adleman, Nancy E.; Howe, Meghan; Bararpour, Layla; Kelley, Ryan G.; Spielman, Daniel; Chang, Kiki D.

    2013-01-01

    We wished to determine whether decreases in N-acetyl aspartate (NAA) and increases in myoinositol (mI) concentrations as a ratio of creatine (Cr) occurred in the dorsolateral prefrontal cortex (DLPFC) of pediatric offspring of parents with bipolar disorder (BD) and a healthy comparison group (HC) over a 5 year period using proton magnetic resonance spectroscopy (1H-MRS). Sixty-four youth (9–18 years old) of parents with BD (36 with established BD, and 28 offspring with symptoms subsyndromal to mania) and 28 HCs were examined for group differences in NAA/Cr and mI/Cr in the DLPFC at baseline and follow-up at either 8, 10, 12, 52, 104, 156, 208, or 260 weeks. No significant group differences were found in metabolite concentrations at baseline or over time. At baseline, BD offspring had trends for higher mI/Cr concentrations in the right DLPFC than the HC group. mI/Cr concentrations increased with age, but no statistically significant group differences were found between groups on follow up. It may be the case that with intervention, youth at risk for BD are normalizing otherwise potentially aberrant neurochemical trajectories in the dorsolateral prefrontal cortex. A longer period of follow up may be required before observing any group differences. PMID:24028795

  7. Characterization of viral siRNA populations in honey bee colony collapse disorder.

    PubMed

    Chejanovsky, Nor; Ophir, Ron; Schwager, Michal Sharabi; Slabezki, Yossi; Grossman, Smadar; Cox-Foster, Diana

    2014-04-01

    Colony Collapse Disorder (CCD), a special case of collapse of honey bee colonies, has resulted in significant losses for beekeepers. CCD-colonies show abundance of pathogens which suggests that they have a weakened immune system. Since honey bee viruses are major players in colony collapse and given the important role of viral RNA interference (RNAi) in combating viral infections we investigated if CCD-colonies elicit an RNAi response. Deep-sequencing analysis of samples from CCD-colonies from US and Israel revealed abundant small interfering RNAs (siRNA) of 21-22 nucleotides perfectly matching the Israeli acute paralysis virus (IAPV), Kashmir virus and Deformed wing virus genomes. Israeli colonies showed high titers of IAPV and a conserved RNAi-pattern of matching the viral genome. That was also observed in sample analysis from colonies experimentally infected with IAPV. Our results suggest that CCD-colonies set out a siRNA response that is specific against predominant viruses associated with colony losses. PMID:24725944

  8. Gray and white matter volume abnormalities in generalized anxiety disorder by categorical and dimensional characterization.

    PubMed

    Hilbert, Kevin; Pine, Daniel S; Muehlhan, Markus; Lueken, Ulrike; Steudte-Schmiedgen, Susann; Beesdo-Baum, Katja

    2015-12-30

    Increasing efforts have been made to investigate the underlying pathophysiology of generalized anxiety disorder (GAD), but only limited consistent information is available on gray (GM) and white matter (WM) volume changes in affected adults. Additionally, few studies employed dimensional approaches to GAD pathology. This study compares structural brain imaging data from n=19 GAD subjects and n=24 healthy comparison (HC) subjects, all medication-free and matched on age, sex and education. Separate categorical and dimensional models were employed using voxel-based morphometry for GM and WM. Significantly higher GM volumes were found in GAD subjects mainly in basal ganglia structures and less consistently in the superior temporal pole. For WM, GAD subjects showed significantly lower volumes in the dlPFC. Largely consistent findings in dimensional and categorical models point toward these structural alterations being reliable and of importance for GAD. While lower volume in the dlPFC could reflect impaired emotional processing and control over worry in GAD, basal ganglia alterations may be linked to disturbed gain and loss anticipation as implicated in previous functional GAD studies. As perturbations in anticipation processes are central to GAD, these areas may warrant greater attention in future studies. PMID:26490569

  9. Detection and characterization of a new astrovirus in chicken and turkeys with enteric and locomotion disorders.

    PubMed

    de Wit, J J; Dam, G B Ten; de Laar, J M A M van; Biermann, Y; Verstegen, I; Edens, F; Schrier, C C

    2011-10-01

    In the present paper, we report the unexpected discovery of a new virus in samples from chicken and turkey flocks with clinical disorders such as tenosynovitis, enteric problems, or runting and/or stunting-like conditions. Since 1987, several virus isolation attempts on samples from these flocks resulted in the same macroscopic characteristic lesions in embryonated specific pathogen free eggs, being mortality with bright-red discolouration of legs and wing-tips, a swollen dark-red liver and oedema. Initial work suggested the presence of an agent with characteristics of a non-enveloped RNA virus. Further work, which is described in this paper, showed that the isolated strains formed a new group of avian nephritis viruses, which is genetically and antigenically distinct from known avian astroviruses. Inoculation of a representative strain (isolate 19) of this new group of avian nephritis viruses, provisionally named avian nephritis virus-3, in specific pathogen free layer chicks resulted in diarrhoea, runting and stunting, and even mortality. PMID:21780967

  10. Epidemiological and Clinical Characterization Following a First Psychotic Episode in Major Depressive Disorder: Comparisons With Schizophrenia and Bipolar I Disorder in the Cavan-Monaghan First Episode Psychosis Study (CAMFEPS)

    PubMed Central

    O’Callaghan, Eadbhard; Waddington, John L.

    2013-01-01

    While recent research on psychotic illness has focussed on the nosological, clinical, and biological relationships between schizophrenia and bipolar disorder, little attention has been directed to the most common other psychotic diagnosis, major depressive disorder with psychotic features (MDDP). As this diagnostic category captures the confluence between dimensions of psychotic and affective psychopathology, it is of unappreciated heuristic potential to inform on the nature of psychotic illness. Therefore, the epidemiology and clinical characteristics of MDDP were compared with those of schizophrenia and bipolar disorder within the Cavan-Monaghan First Episode Psychosis Study (n = 370). Epidemiologically, the first psychotic episode of MDDP (n = 77) was uniformly distributed across the adult life span, while schizophrenia (n = 73) and bipolar disorder (n = 73) were primarily disorders of young adulthood; the incidence of MDDP, like bipolar disorder, did not differ between the sexes, while the incidence of schizophrenia was more common in males than in females. Clinically, MDDP was characterized by negative symptoms, executive dysfunction, neurological soft signs (NSS), premorbid intellectual function, premorbid adjustment, and quality of life similar to those for schizophrenia, while bipolar disorder was characterized by less prominent negative symptoms, executive dysfunction and NSS, and better quality of life. These findings suggest that what we currently categorize as MDDP may be more closely aligned with other psychotic diagnoses than has been considered previously. They indicate that differences in how psychosis is manifested vis-à-vis depression and mania may be quantitative rather than qualitative and occur within a dimensional space, rather than validating categorical distinctions. PMID:23716714

  11. Diagnosis and Characterization of DSM-5 Nonsuicidal Self-Injury Disorder Using the Clinician-Administered Nonsuicidal Self-Injury Disorder Index.

    PubMed

    Gratz, Kim L; Dixon-Gordon, Katherine L; Chapman, Alexander L; Tull, Matthew T

    2015-10-01

    Despite the inclusion of nonsuicidal self-injury disorder (NSSID) in the DSM-5, research on NSSID is limited and no studies have examined the full set of DSM-5 NSSID diagnostic criteria. Thus, this study examined the reliability and validity of a new structured diagnostic interview for NSSID (the Clinician-Administered NSSI Disorder Index; CANDI) and provides information on the clinical characteristics and features of DSM-5 NSSID. Data on the interrater reliability, internal consistency, and construct validity of the CANDI and associated characteristics of NSSID were collected in a community sample of young adults (N = 107) with recent recurrent NSSI (≥10 lifetime episodes of NSSI, at least one episode in the past year). Participants completed self-report measures of NSSI characteristics, psychopathology, and emotion dysregulation, as well as diagnostic interviews of borderline personality disorder (BPD) and lifetime mood, anxiety, and substance use disorders. The CANDI demonstrated good interrater reliability and adequate internal consistency. Thirty-seven percent of participants met criteria for NSSID. NSSID was associated with greater clinical and diagnostic severity, including greater NSSI versatility, greater emotion dysregulation and psychopathology, and higher rates of BPD, bipolar disorder, posttraumatic stress disorder, social anxiety disorder, and alcohol dependence. Findings provide support for the reliability, validity, and feasibility of the CANDI. PMID:25604630

  12. [Eating disorders].

    PubMed

    Miyake, Yoshie; Okamoto, Yuri; Jinnin, Ran; Shishida, Kazuhiro; Okamoto, Yasumasa

    2015-02-01

    Eating disorders are characterized by aberrant patterns of eating behavior, including such symptoms as extreme restriction of food intake or binge eating, and severe disturbances in the perception of body shape and weight, as well as a drive for thinness and obsessive fears of becoming fat. Eating disorder is an important cause for physical and psychosocial morbidity in young women. Patients with eating disorders have a deficit in the cognitive process and functional abnormalities in the brain system. Recently, brain-imaging techniques have been used to identify specific brain areas that function abnormally in patients with eating disorders. We have discussed the clinical and cognitive aspects of eating disorders and summarized neuroimaging studies of eating disorders. PMID:25681363

  13. Characterization of the Deleted in Autism 1 Protein Family: Implications for Studying Cognitive Disorders

    PubMed Central

    Aziz, Azhari; Harrop, Sean P.; Bishop, Naomi E.

    2011-01-01

    Autism spectrum disorders (ASDs) are a group of commonly occurring, highly-heritable developmental disabilities. Human genes c3orf58 or Deleted In Autism-1 (DIA1) and cXorf36 or Deleted in Autism-1 Related (DIA1R) are implicated in ASD and mental retardation. Both gene products encode signal peptides for targeting to the secretory pathway. As evolutionary medicine has emerged as a key tool for understanding increasing numbers of human diseases, we have used an evolutionary approach to study DIA1 and DIA1R. We found DIA1 conserved from cnidarians to humans, indicating DIA1 evolution coincided with the development of the first primitive synapses. Nematodes lack a DIA1 homologue, indicating Caenorhabditis elegans is not suitable for studying all aspects of ASD etiology, while zebrafish encode two DIA1 paralogues. By contrast to DIA1, DIA1R was found exclusively in vertebrates, with an origin coinciding with the whole-genome duplication events occurring early in the vertebrate lineage, and the evolution of the more complex vertebrate nervous system. Strikingly, DIA1R was present in schooling fish but absent in fish that have adopted a more solitary lifestyle. An additional DIA1-related gene we named DIA1-Like (DIA1L), lacks a signal peptide and is restricted to the genomes of the echinoderm Strongylocentrotus purpuratus and cephalochordate Branchiostoma floridae. Evidence for remarkable DIA1L gene expansion was found in B. floridae. Amino acid alignments of DIA1 family gene products revealed a potential Golgi-retention motif and a number of conserved motifs with unknown function. Furthermore, a glycine and three cysteine residues were absolutely conserved in all DIA1-family proteins, indicating a critical role in protein structure and/or function. We have therefore identified a new metazoan protein family, the DIA1-family, and understanding the biological roles of DIA1-family members will have implications for our understanding of autism and mental retardation. PMID

  14. Thermographic characterization of masticatory muscle regions in volunteers with and without myogenous temporomandibular disorder: preliminary results

    PubMed Central

    Brioschi, M L; Vardasca, R; Weber, M; Crosato, E M; Arita, E S

    2014-01-01

    Objectives: This study aims to conduct a non-invasive measurement of the cutaneous temperature of selected masticatory muscle regions of volunteers with and without myogenous temporomandibular disorder (TMD), using infrared thermography. Methods: 23 females (10 myogenous TMD volunteers and 13 controls) were recruited and studied. The temperature at the surface of the facial area over the anterior temporalis and masseter muscles was assessed by medical thermography, using regional lateral views and clinical examination. Results: The temperature levels measured at the masseter and anterior temporalis muscle regions in myogenous TMD volunteers (32.85 ± 0.85 and 34.37 ± 0.64 ºC, respectively) were significantly lower (p < 0.05) than those measured in controls (33.49 ± 0.92 and 34.78 ± 0.44 ºC, respectively). Medical infrared imaging indicated a mean difference of 1.4 ºC between the masseter and anterior temporalis regions. Analysis of the comparison between the absolute and normalized mean temperatures was performed using the pairwise comparison of receiver operating characteristic curves, and no statistically significant difference was observed (p > 0.05). The sensitivity and specificity of the thermographic assessment for the masseter region was of 70% and 73%, respectively and for the anterior temporalis region was of 80% and 62%, respectively. Conclusions: This method of evaluating masticatory muscle regions of this preliminary study seems to indicate that it can be used as an aid in complimentary diagnosing of TMDs. PMID:25144605

  15. Acquired prosopagnosia: structural basis and processing impairments.

    PubMed

    Davies-Thompson, Jodie; Pancaroglu, Raika; Barton, Jason

    2014-01-01

    Cognitive models propose a hierarchy of parallel processing stages in face perception, and functional neuroimaging shows a network of regions involved in face processing. Reflecting this, acquired prosopagnosia is not a single entity but a family of disorders with different anatomic lesions and different functional deficits. One classic distinction is between an apperceptive variant, in which there is impaired perception of facial structure, and an associative/amnestic variant, in which perception is relatively intact, with subsequent problems matching perception to facial memories, because of either disconnection or loss of those memories. These disorders also have to be distinguished from people-specific amnesia, a multimodal impairment, and prosop-anomia, in which familiarity with faces is preserved but access to names is disrupted. These different disorders can be conceived as specific deficits at different processing stages in cognitive models, and suggests that these functional stages may have distinct neuroanatomic substrates. It remains to be seen whether a similar anatomic and functional variability is present in developmental prosopagnosia. PMID:24389150

  16. Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder.

    PubMed

    Peterson, Christine B; Service, Susan K; Jasinska, Anna J; Gao, Fuying; Zelaya, Ivette; Teshiba, Terri M; Bearden, Carrie E; Cantor, Rita M; Reus, Victor I; Macaya, Gabriel; López-Jaramillo, Carlos; Bogomolov, Marina; Benjamini, Yoav; Eskin, Eleazar; Coppola, Giovanni; Freimer, Nelson B; Sabatti, Chiara

    2016-05-01

    The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and other quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene expression in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus. In the eQTL analysis, we utilize a recently proposed hierarchical multiple testing strategy which controls error rates regarding the discovery of functional variants. Our results elucidate the heritability and regulation of gene expression in this unique Latin American study population and identify a set of regulatory SNPs which may be relevant in future investigations of complex disease in this population. Since our subjects belong to extended families, we are able to compare traditional kinship-based estimates with those from more recent methods that depend only on genotype information. PMID:27176483

  17. Characterization of naturally occurring cutaneous neurofibromatosis in Holstein cattle. A disorder resembling neurofibromatosis type 1 in humans.

    PubMed Central

    Sartin, E. A.; Doran, S. E.; Riddell, M. G.; Herrera, G. A.; Tennyson, G. S.; D'Andrea, G.; Whitley, R. D.; Collins, F. S.

    1994-01-01

    Neurofibromatosis in cattle is typically a noncutaneous disease. A small group of cows in a Holstein dairy herd developed cutaneous neurofibromatosis. This unique condition was investigated and compared with neurofibromatosis type 1 (NF1) in humans. All cutaneous lesions but one were consistent with neurofibromas in noncutaneous sites in cattle and neurofibromas in patients with NF1. One bovine lesion was classified as a neurofibrosarcoma. Immunohistochemistry and electron microscopy supported Schwannian differentiation in benign and malignant lesions. Linkage analysis with a polymorphism in the bovine NF1 gene confirmed that two affected animals from the same sire inherited the same paternal NF1 allele. Bovine cutaneous neurofibromatosis is a naturally occurring disease in this group of animals, characterized by skin tumors morphologically identical to those of NF1. An informative polymorphism at the NF1 locus of two animals and their sire suggests this disorder may be caused by hereditary mutations at the bovine NF1 locus. Images Figure 1 Figure 3 Figure 4 Figure 5 PMID:7977647

  18. Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder

    PubMed Central

    Peterson, Christine B.; Service, Susan K.; Jasinska, Anna J.; Gao, Fuying; Zelaya, Ivette; Teshiba, Terri M.; Bearden, Carrie E.; Cantor, Rita M.; Reus, Victor I.; Macaya, Gabriel; López-Jaramillo, Carlos; Bogomolov, Marina; Benjamini, Yoav; Eskin, Eleazar; Coppola, Giovanni; Freimer, Nelson B.; Sabatti, Chiara

    2016-01-01

    The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and other quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene expression in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus. In the eQTL analysis, we utilize a recently proposed hierarchical multiple testing strategy which controls error rates regarding the discovery of functional variants. Our results elucidate the heritability and regulation of gene expression in this unique Latin American study population and identify a set of regulatory SNPs which may be relevant in future investigations of complex disease in this population. Since our subjects belong to extended families, we are able to compare traditional kinship-based estimates with those from more recent methods that depend only on genotype information. PMID:27176483

  19. Rethinking responsibility in offenders with acquired paedophilia: punishment or treatment?

    PubMed

    Gilbert, Frédéric; Focquaert, Farah

    2015-01-01

    This article reviews the current neurobiological literature on the aetiology of developmental and acquired paedophilia and examines what the consequences could be in terms of responsibility and treatment for the latter. Addressing the question of responsibility and punishment of offenders with acquired paedophilia from a neurobiological perspective is controversial. Consequently it is essential to avoid hasty conclusions based strictly on neurobiological abnormality justifications. This study establishes a distinction between developmental and acquired paedophilia. The article investigates whether offenders who fulfil the diagnosis of acquired paedophilia should be held fully responsible, particularly in cases where the offender's conduct appears to result from volitionally controlled behaviour that is seemingly incompatible with a neurological cause. Moreover, the article explores how responsibility can be compromised when offenders with acquired paedophilia have (partially) preserved moral knowledge despite their sexual disorder. The article then examines the option of offering mandatory treatment as an alternative to imprisonment for offenders with acquired paedophilia. Furthermore, the article addresses the ethical issues related to offering any form of quasi-coercive treatment as a condition of release. This study concludes that decisions to fully or partially excuse an individual who fulfil the diagnosis of acquired paedophilia should take all relevant information into account, both neurobiological and other environmental evidence, and should proceed on a careful case by case analysis before sentencing or offering treatment. PMID:25725545

  20. [Haemostatic disorders in children].

    PubMed

    Kurnik, Karin; Bidlingmaier, Christoph; Hütker, Sebastian; Olivieri, Martin

    2016-05-10

    Haemorrhagic and thrombotic events occur in both children and adults. The underlying causes are congenital or acquired disorders. In contrast to haemorrhagic disorders, inherited thrombotic disorders nearly exclusively in association with additional external risk factors lead to thrombotic events predominantly during the newborn period and adolescence. It is necessary to be aware of age-specific properties of coagulation in order to correctly interpret clinical and laboratory findings and to provide optimal care for children with haemorrhagic and thrombotic complications. PMID:26988657

  1. Treatment of the acquired von Willebrand syndrome.

    PubMed

    Budde, Ulrich; Scheppenheim, Sonja; Dittmer, Rita

    2015-12-01

    Acquired von Willebrand syndrome (aVWS) accounts for 22% of patients with abnormal von Willebrand factor. Most patients with known pathophysiological mechanisms suffer from cardiovascular, myeloproliferative and lymphoproliferative disorders. Less frequent associations are of autoimmune origin, due to hyperfibrinolysis, adsorption to tumor cells, reduced synthesis and prolonged circulation. The mechanisms leading to aVWS is hitherto not known in patients with liver and kidney diseases, drug use, glycogen storage disease, virus infections and at least 18 other disease entities. Diagnosis is complicated by the battery of tests needed, and their inherent rather low sensitivity and specificity for aVWS. Thus, even in acute bleeding situations it may take days until a firm diagnosis is settled and specific therapies can be initiated. The main aim is to shed more light onto this, compared with inherited von Willebrand disease, rare disease which affects at least 2-3% of the older population. PMID:26577336

  2. Reliable disease biomarkers characterizing and identifying electrohypersensitivity and multiple chemical sensitivity as two etiopathogenic aspects of a unique pathological disorder.

    PubMed

    Belpomme, Dominique; Campagnac, Christine; Irigaray, Philippe

    2015-01-01

    flow (BBF) in the temporal lobes of each case with pulsed cerebral ultrasound computed tomosphygmography. Both disorders were associated with hypoperfusion in the capsulothalamic area, suggesting that the inflammatory process involve the limbic system and the thalamus. Our data strongly suggest that EHS and MCS can be objectively characterized and routinely diagnosed by commercially available simple tests. Both disorders appear to involve inflammation-related hyper-histaminemia, oxidative stress, autoimmune response, capsulothalamic hypoperfusion and BBB opening, and a deficit in melatonin metabolic availability; suggesting a risk of chronic neurodegenerative disease. Finally the common co-occurrence of EHS and MCS strongly suggests a common pathological mechanism. PMID:26613326

  3. Acquired Equivalence Changes Stimulus Representations

    ERIC Educational Resources Information Center

    Meeter, M.; Shohamy, D.; Myers, C. E.

    2009-01-01

    Acquired equivalence is a paradigm in which generalization is increased between two superficially dissimilar stimuli (or antecedents) that have previously been associated with similar outcomes (or consequents). Several possible mechanisms have been proposed, including changes in stimulus representations, either in the form of added associations or…

  4. The microtubular cytoskeleton of olfactory neurons derived from patients with schizophrenia or with bipolar disorder: Implications for biomarker characterization, neuronal physiology and pharmacological screening.

    PubMed

    Benítez-King, G; Valdés-Tovar, M; Trueta, C; Galván-Arrieta, T; Argueta, J; Alarcón, S; Lora-Castellanos, A; Solís-Chagoyán, H

    2016-06-01

    Schizophrenia (SZ) and Bipolar Disorder (BD) are highly inheritable chronic mental disorders with a worldwide prevalence of around 1%. Despite that many efforts had been made to characterize biomarkers in order to allow for biological testing for their diagnoses, these disorders are currently detected and classified only by clinical appraisal based on the Diagnostic and Statistical Manual of Mental Disorders. Olfactory neuroepithelium-derived neuronal precursors have been recently proposed as a model for biomarker characterization. Because of their peripheral localization, they are amenable to collection and suitable for being cultured and propagated in vitro. Olfactory neuroepithelial cells can be obtained by a non-invasive brush-exfoliation technique from neuropsychiatric patients and healthy subjects. Neuronal precursors isolated from these samples undergo in vitro the cytoskeletal reorganization inherent to the neurodevelopment process which has been described as one important feature in the etiology of both diseases. In this paper, we will review the current knowledge on microtubular organization in olfactory neurons of patients with SZ and with BD that may constitute specific cytoskeletal endophenotypes and their relation with alterations in L-type voltage-activated Ca(2+) currents. Finally, the potential usefulness of neuronal precursors for pharmacological screening will be discussed. PMID:26837043

  5. Acquired coagulation factor XIII deficiency: a case report.

    PubMed

    Jia, Yongqing; Hu, Huixian; Wei, Bin

    2016-06-01

    The main objective of the study is to summarize the clinical characteristics of acquired factor XIII (FXIII) deficiency caused by a spontaneous FXIII inhibitor. Here we report a new case of acquired FXIII deficiency caused by FXIII inhibitor and review the medical literature regarding the characteristics and treatment of this disorder. FXIII deficiency caused by FXIII inhibitors is rare and of uncertain pathogenesis. Experience with therapeutic measures is limited to data from case reports. Immunosuppressive drugs may reduce autoantibodies or inhibit the cell clone generating the antibodies and may have been of benefit in our patient. The impact of such therapy on patient prognosis is incompletely known. PMID:26588447

  6. Synthesis and characterization of ordered and disordered polycrystalline La2NiMnO6 thin films by sol-gel.

    PubMed

    Zhang, Zhiqing; Jian, Hongbin; Tang, Xianwu; Yang, Jie; Zhu, Xuebin; Sun, Yuping

    2012-10-14

    Polycrystalline La(2)NiMnO(6) thin films are prepared on Pt/Ti/SiO(2)/Si substrates by the sol-gel method. Through controlling the processing parameters, the cation ordering can be tuned. The disordered and ordered thin films exhibit distinct differences for crystal structures as well as properties. The crystal structure at room temperature characterized by X-ray diffraction and Raman spectra is suggested to be monoclinic (P2(1)/n) and orthorhombic (Pbnm) for the ordered and disordered thin films, respectively. The ferromagnetic-paramagnetic transition is 263 K and 60 K for the ordered and disordered samples respectively, whereas the saturation magnetic moment at 5 K is 4.9 μ(B) fu(-1) (fu = formula unit) and 0.9 μ(B) fu(-1). The dielectric constant as well as magnetodielectric effect is higher for the ordered La(2)NiMnO(6) thin films. The magnetodielectric effect for the ordered thin film is dominantly contributed to the intrinsic coupling of electric dipole ordering and fluctuations and magnetic ordering and fluctuations, while it is mainly contributed to Maxwell-Wagner (M-W) effects for the disordered thin film. The successful achievements of ordered and disordered polycrystalline La(2)NiMnO(6) thin films will provide an effective route to fabricate double-perovskite polycrystalline thin films by the sol-gel method. PMID:22910689

  7. Oral Language Impairments in Developmental Disorders Characterized by Language Strengths: A Comparison of Asperger Syndrome and Nonverbal Learning Disabilities

    ERIC Educational Resources Information Center

    Stothers, M. E.; Cardy, J. Oram

    2012-01-01

    Asperger syndrome (AS) and nonverbal learning disabilities (NLD) are developmental disorders in which linguistic ability is reported to be stronger than in disorders from which they must be distinguished for diagnosis. Children and adults with AS and NLD share pragmatic weaknesses, atypical social behaviours, and some cognitive features. To date,…

  8. Gastroduodenal Disorders.

    PubMed

    Stanghellini, Vincenzo; Chan, Francis K L; Hasler, William L; Malagelada, Juan R; Suzuki, Hidekazu; Tack, Jan; Talley, Nicholas J

    2016-05-01

    Symptoms that can be attributed to the gastroduodenal region represent one of the main subgroups among functional gastrointestinal disorders. A slightly modified classification into the following 4 categories is proposed: (1) functional dyspepsia, characterized by 1 or more of the following: postprandial fullness, early satiation, epigastric pain, and epigastric burning, which are unexplained after a routine clinical evaluation; and includes 2 subcategories: postprandial distress syndrome that is characterized by meal-induced dyspeptic symptoms and epigastric pain syndrome that does not occur exclusively postprandially; the 2 subgroups can overlap; (2) belching disorders, defined as audible escapes of air from the esophagus or the stomach, are classified into 2 subcategories, depending on the origin of the refluxed gas as detected by intraluminal impedance measurement belching: gastric and supragastric belch; (3) nausea and vomiting disorders, which include 3 subcategories: chronic nausea and vomiting syndrome; cyclic vomiting syndrome; and cannabinoid hyperemesis syndrome; and (4) rumination syndrome. PMID:27147122

  9. Myasthenia gravis and related disorders: Pathology and molecular pathogenesis.

    PubMed

    Ha, James C; Richman, David P

    2015-04-01

    Disorders affecting the presynaptic, synaptic, and postsynaptic portions of the neuromuscular junction arise from various mechanisms in children and adults, including acquired autoimmune or toxic processes as well as genetic mutations. Disorders include autoimmune myasthenia gravis associated with acetylcholine receptor, muscle specific kinase or Lrp4 antibodies, Lambert-Eaton myasthenic syndrome, nerve terminal hyperexcitability syndromes, Guillain Barré syndrome, botulism, organophosphate poisoning and a number of congenital myasthenic syndromes. This review focuses on the various molecular and pathophysiological mechanisms of these disorders, characterization of which has been crucial to the development of treatment strategies specific for each pathogenic mechanism. In the future, further understanding of the underlying processes may lead to more effective and targeted therapies of these disorders. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis. PMID:25486268

  10. Acquired night blindness due to bad eating patterns.

    PubMed

    Parafita-Fernández, A; Escalona-Fermín, M M; Sampil, M; Moraña, N; Viso, E; Fernández-Vila, P C

    2015-06-01

    We report a case of acquired night blindness in a developed country (Spain) without risk factors for nutritional deficiency disease or family history of hereditary retinal disease. A 76-year-old woman presented with acquired night blindness of 6-month progression. After a thorough inquiry about eating patterns she becomes suspicious of vitamin A low dietary intake, which is analytically confirmed and successfully treated. Despite being very uncommon in our environment and even more in patients without digestive problems, in a patient reporting acquired night blindness vitamin A deficiency should not be discarded until eating patterns have been investigated. It might be especially relevant in certain socioeconomic situations and eating disorders such as bulimia or anorexia nervosa. PMID:25804276

  11. Acquired von Willebrand syndrome--report of 10 cases and review of the literature.

    PubMed

    Nitu-Whalley, I C; Lee, C A

    1999-09-01

    Acquired von Willebrand syndrome (AvWS) is a rare bleeding disorder with clinical and laboratory features closely resembling hereditary von Willebrand disease (vWD), arising in previously haemostatically normal individuals. We present a retrospective review of 10 cases with AvWS diagnosed over 17 years. The severity of the bleeding tendency varied from mild to severe forms. Multimers electrophoresis showed that 8/10 patients had a normal pattern similar to type 1 vWD, 1/10 had a type 2A vWD pattern (with absence of high and intermediate molecular weight multimers) and 1/10 had a type 3 vWD pattern. An inhibitor screen was performed in 6/10 patients and autoantibodies against von Willebrand factor were found in only two cases. The underlying cause/associated conditions were identified in 8/10 patients. Treatment of the bleeding diathesis was successfully achieved with desmopressin or clotting factor concentrates. Resolution of underlying hypothyroidism (in two cases) and multiple myeloma (in one case) led to normalization of the coagulation parameters. The report on this cohort of 10 patients with AvWS illustrates the complexity of AvWS and its multifactorial aetiology. A brief review of the recent literature on AvWS is also presented, with emphasis on the current opinions in pathogenesis and treatment. Acquired von Willebrand syndrome (AvWS) is an acquired bleeding disorder, characterized by a phenotype similar to the inherited von Willebrand disease (vWD), with a prolonged bleeding time and low plasma levels of factor VIII - von Willebrand factor (vWF) measurements. It occurs in patients with no family history of vWD, who present with recent onset of bleeding symptoms. AvWS appears to be associated mainly with lymphoproliferative disorders, immunological conditions and neoplasia. AvWS is a rare condition and it is difficult to conduct prospective studies, therefore it is important to document the experience with such cases. The aim of this paper is first, to

  12. Attention deficit/hyperactivity disorders with co-existing substance use disorder is characterized by early antisocial behaviour and poor cognitive skills

    PubMed Central

    2013-01-01

    Background Attention Deficit/Hyperactivity Disorder (ADHD) is associated with an increased risk of co-existing substance abuse. The Swedish legislation on compulsory healthcare can be applied to persons with severe substance abuse who can be treated involuntarily during a period of six months. This context enables a reliable clinical assessment of ADHD in individuals with severe substance use disorder (SUD). Methods In the context of compulsory care for individuals with severe SUD, male patients were assessed for ADHD, co-morbid psychiatric symptoms, psychosocial background, treatment history, and cognition. The data from the ADHD/SUD group (n = 60) was compared with data from (1) a group of individuals with severe substance abuse without known ADHD (SUD group, n = 120), as well as (2) a group with ADHD from an outpatient psychiatric clinic (ADHD/Psych group, n = 107). Results Compared to the general SUD group in compulsory care, the ADHD/SUD group had already been significantly more often in compulsory care during childhood or adolescence, as well as imprisoned more often as adults. The most common preferred abused substance in the ADHD/SUD group was stimulant drugs, while alcohol and benzodiazepine abuse was more usual in the general SUD group. Compared to the ADHD/Psych group, the ADHD/SUD group reported more ADHD symptoms during childhood and performed poorer on all tests of general intellectual ability and executive functions. Conclusions The clinical characteristics of the ADHD/SUD group differed from those of both the SUD group and the ADHD/Psych group in several respects, indicating that ADHD in combination with SUD is a particularly disabling condition. The combination of severe substance abuse, poor general cognitive ability, severe psychosocial problems, including indications of antisocial behaviour, and other co-existing psychiatric conditions should be considered in treatment planning for adults with ADHD and SUD. PMID:24330331

  13. Characterizing the daily life, needs, and priorities of adults with autism spectrum disorder from Interactive Autism Network data.

    PubMed

    Gotham, Katherine; Marvin, Alison R; Taylor, Julie Lounds; Warren, Zachary; Anderson, Connie M; Law, Paul A; Law, Jessica K; Lipkin, Paul H

    2015-10-01

    Using online survey data from a large sample of adults with autism spectrum disorder and legal guardians, we first report outcomes across a variety of contexts for participants with a wide range of functioning, and second, summarize these stakeholders' priorities for future research. The sample included n = 255 self-reporting adults with autism spectrum disorder aged 18-71 years (M = 38.5 years, standard deviation = 13.1 years) and n = 143 adults with autism spectrum disorder aged 18-58 years (M = 25.0 years, standard deviation = 8.2 years) whose information was provided by legal guardians. Although the self-reporting subsample had much higher rates of employment, marriage/partnership, and independent living than are typically seen in autism spectrum disorder outcome studies, they remained underemployed and had strikingly high rates of comorbid disorders. Data on both descriptive outcomes and rated priorities converged across subsamples to indicate the need for more adult research on life skills, treatments, co-occurring conditions, and vocational and educational opportunities. Stakeholders also placed priority on improving public services, health care access, and above all, public acceptance of adults with autism spectrum disorder. Findings must be interpreted in light of the self-reporting subsample's significant proportion of females and of later-diagnosed individuals. This study underscores the need for lifespan research; initiatives will benefit from incorporating information from the unique perspectives of adults with autism spectrum disorder and their families. PMID:25964655

  14. Investigations of the pathogenesis of acquired pendular nystagmus

    NASA Technical Reports Server (NTRS)

    Averbuch-Heller, L.; Zivotofsky, A. Z.; Das, V. E.; DiScenna, A. O.; Leigh, R. J.

    1995-01-01

    We investigated the pathogenesis of acquired pendular nystagmus (APN) in six patients, three of whom had multiple sclerosis. First, we tested the hypothesis that the oscillations of APN are due to a delay in visual feedback secondary, for example, to demyelination of the optic nerves. We manipulated the latency to onset of visually guided eye movements using an electronic technique that induces sinusoidal oscillations in normal subjects. This manipulation did not change the characteristics of the APN, but did superimpose lower-frequency oscillations similar to those induced in normal subjects. These results are consistent with current models for smooth (non-saccadic) eye movements, which predict that prolongation of visual feedback could not account for the high-frequency oscillations that often characterize APN. Secondly, we attempted to determine whether an increase in the gain of the visually-enhanced vestibulo-ocular reflex (VOR), produced by viewing a near target, was accompanied by a commensurate increase in the amplitude of APN. Increases in horizontal or vertical VOR gain during near viewing occurred in four patients, but only two of them showed a parallel increase in APN amplitude. On the other hand, APN amplitude decreased during viewing of the near target in the two patients who showed no change in VOR gain. Taken together, these data suggest that neither delayed visual feedback nor a disorder of central vestibular mechanisms is primarily responsible for APN. More likely, these ocular oscillations are produced by abnormalities of internal feedback circuits, such as the reciprocal connections between brainstem nuclei and cerebellum.

  15. [Acquired agammaglobulinaemia with predominantly intestinal symptoms (author's transl)].

    PubMed

    Goldach, R; Wittwer, J

    1977-11-01

    In a 45-year-old female patient primary acquired agammaglobulinaemia was diagnosed. Intestinal symptoms predominated. The disease was characterized by a B-cell defect. Substitution with gamma-globulin (Beriglobin) practically cured the symptoms. The pathogenesis of the disease remains unexplained. PMID:72639

  16. Mucocutaneous manifestations of acquired hypoparathyroidism: An observational study.

    PubMed

    Sarkar, Somenath; Mondal, Modhuchanda; Das, Kapildev; Shrimal, Arpit

    2012-09-01

    Hypoparathyroidism is a disorder of calcium and phosphorus metabolism due to decreased secretion of parathyroid hormone. Hypoparathyroidism can be hereditary and acquired. Acquired hypoparathyroidism usually occurs following neck surgery (thyroid surgery or parathyroid surgery). Along with systemic manifestations, hypoparathyroidism produces some skin manifestations. Lack of study regarding mucocutaneous manifestations of acquired hypoparathyroidism prompted us to undertake this study. To evaluate the mucocutaneous manifestations of acquired hypoparathyroidism. An observational study done in a tertiary care hospital of Kolkata by comprehensive history taking, through clinical examination and relevant laboratory investigations. Twenty-one patients were included in the study. The commonest form of acquired hypoparathyroidism was neck surgery (thyroidectomy and parathyroidectomy operation). Mucocutaneous manifestations were present in 76.19% of patients. The most frequent mucocutaneous manifestation was found in the hairs like the loss of axillary hair (61.9%), loss of pubic hair (52.38%), coarsening of body hair (47.62%), and alopecia areata (9.52%). The nail changes noted were brittle and ridged nail, followed by onycholysis, onychosezia, and onychomedesis. The most common skin features were xerotic skin in 11 patients (52.38%), followed by pellagra-like skin pigmentation, pustular psoriasis and acne form eruption, bullous impetigo, etc. Mucosa was normal in all the cases excepting the one which showed oral candidiasis. PMID:23087872

  17. Acquired immunodeficiency syndrome: neuroradiologic findings.

    PubMed

    Kelly, W M; Brant-Zawadzki, M

    1983-11-01

    Central nervous system complications depicted by CT in ten patients with acquired immunodeficiency syndrome are described. Three patients had multifocal intra-axial enhancing lesions representing atypical brain abscesses (two with toxoplasmosis, one with candidiasis). A fourth patient with multifocal "ring" lesions whose biopsy was interpreted as suggestive of toxoplasmosis responded poorly to treatment. Following his death three months later of Pneumocystis carinii pneumonia, autopsy revealed primary intracerebral immunoblastic lymphoma. One patient had Kaposi sarcoma involving the right frontal lobe (seen as an enhancing mass on the CT scan). CT findings in the remaining five patients revealed mild to moderate enlargement of cerebrospinal fluid spaces (including ventricles and basal cisternae) as a result of cryptococcal meningitis in three patients and "aseptic" meningitis in two. The two patients in whom early biopsy confirmed toxoplasmosis responded well to anti-infective therapy, resulting in dramatic clinical recoveries. PMID:6622693

  18. Bejel: acquirable only in childhood?

    PubMed

    Rothschild, Bruce M; Rothschild, Christine; Naples, Virginia; Billard, Michel; Panero, Barbara

    2006-10-01

    Bejel clearly has a long history in the Middle East and the Sudan, but was it transmitted to Europe? As the major manifestation of bejel is presence of periosteal reaction in 20-40% of afflicted populations, absence of significant population frequency of periosteal reaction in Europe would exclude that diagnosis. Examination of skeletal populations from continental Europe revealed no significant periosteal reaction at the time of and immediately subsequent to the Crusades. Thus, there is no evidence for bejel in Europe, in spite of clear contact (the mechanism of bejel transmission in children) between warring groups, at least during the Crusades. This supports the hypothesis that bejel is a childhood-acquired disease and apparently cannot be contracted in adulthood. PMID:17049474

  19. Lymphoma in acquired generalized lipodystrophy.

    PubMed

    Brown, Rebecca J; Chan, Jean L; Jaffe, Elaine S; Cochran, Elaine; DePaoli, Alex M; Gautier, Jean-Francois; Goujard, Cecile; Vigouroux, Corinne; Gorden, Phillip

    2016-01-01

    Acquired generalized lipodystrophy (AGL) is a rare disease thought to result from autoimmune destruction of adipose tissue. Peripheral T-cell lymphoma (PTCL) has been reported in two AGL patients. We report five additional cases of lymphoma in AGL, and analyze the role of underlying autoimmunity and recombinant human leptin (metreleptin) replacement in lymphoma development. Three patients developed lymphoma during metreleptin treatment (two PTCL and one ALK-positive anaplastic large cell lymphoma), and two developed lymphomas (mycosis fungoides and Burkitt lymphoma) without metreleptin. AGL is associated with high risk for lymphoma, especially PTCL. Autoimmunity likely contributes to this risk. Lymphoma developed with or without metreleptin, suggesting metreleptin does not directly cause lymphoma development; a theoretical role of metreleptin in lymphoma progression remains possible. For most patients with AGL and severe metabolic complications, the proven benefits of metreleptin on metabolic disease will likely outweigh theoretical risks of metreleptin in lymphoma development or progression. PMID:25864863

  20. Acquired Hemophilia A Successfully Treated with Rituximab

    PubMed Central

    D’Arena, Giovanni; Grandone, Elvira; Di Minno, Matteo Nicola Dario; Musto, Pellegrino; Di Minno, Giovanni

    2015-01-01

    Acquired hemophilia A (AHA) is a rare bleeding disorder due to the development of specific autoantibodies against factor VIII. The anti-CD20 monoclonal antibody Rituximab has been proven to be effective in obtaining a long-term suppression of inhibitors of AHA, besides other immunosuppressive standard treatments. Here we describe a case of idiopathic AHA in a 60-year old man successfully treated with rituximab. He showed a complete clinical response with a normalization of clotting parameters after 5 weekly courses of rituximab given at a dose of 375 mg/sqm., but after stopping rituximab, an initial worsening of coagulation parameters induced the addition of 3 further courses. At present, the patient is in complete clinical and hematological remission after 200 days. This case confirms that Rituximab may be a safe and useful tool to treat AHA and, a prolonged administration can overcome the initial resistance. However, the precise position of this drug in the therapeutic strategy (first or second-line, alone or in combination with other drugs) remains to be established and warrants further investigation. PMID:25745551

  1. 7 CFR 926.10 - Acquire.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries....

  2. 7 CFR 926.10 - Acquire.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries....

  3. 7 CFR 926.10 - Acquire.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries....

  4. 7 CFR 926.10 - Acquire.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries....

  5. Characterizing the Factor Structure of Parent Reported Executive Function in Autism Spectrum Disorders: The Impact of Cognitive Inflexibility

    ERIC Educational Resources Information Center

    Granader, Yael; Wallace, Gregory L.; Hardy, Kristina K.; Yerys, Benjamin E.; Lawson, Rachel A.; Rosenthal, Michael; Wills, Meagan C.; Dixon, Eunice; Pandey, Juhi; Penna, Rebecca; Schultz, Robert T.; Kenworthy, Lauren

    2014-01-01

    Parents of children with autism spectrum disorders (ASD) consistently report executive functioning (EF) deficits. This study investigates the factor structure of the Behavior Rating Inventory of Executive Function (BRIEF) as reported by parents of children with ASD and typically developing children (TDC). BRIEFs for 411 children with ASD and 467…

  6. Characterizing the Daily Life, Needs, and Priorities of Adults with Autism Spectrum Disorder from Interactive Autism Network Data

    ERIC Educational Resources Information Center

    Gotham, Katherine; Marvin, Alison R.; Taylor, Julie Lounds; Warren, Zachary; Anderson, Connie M.; Law, Paul A.; Law, Jessica K.; Lipkin, Paul H.

    2015-01-01

    Using online survey data from a large sample of adults with autism spectrum disorder and legal guardians, we first report outcomes across a variety of contexts for participants with a wide range of functioning, and second, summarize these stakeholders' priorities for future research. The sample included n?=?255 self-reporting adults with autism…

  7. Role of disorder in characterizing the ubiquitous temperature, concentration, and field dependencies of charge transport in molecularly doped polymers

    NASA Astrophysics Data System (ADS)

    Dunlap, David H.

    1995-08-01

    Over the last two decades, experimental investigations of the mobility of photo-injected charges in a wide variety of molecularly doped, pendant-, and main-chain polymers, and vapor deposited molecular glasses have shown that the mobility at high electric fields is universally described by the Poole-Frenkel law, micrometers equals exp(- (Delta) /kT) exp((gamma) (root)E). With few exceptions, the activation energy (Delta) is about 0.5eV, and the Poole-Frenkel factor (gamma) is a function of temperature which follows the empirical relation (gamma) equals B(1/kT - 1/kT0), where B approximately equals 4 X 10-4(e2Vcm)1/2. The remarkable similarity among experiments suggests a mechanism for these dependencies which is largely based on a feature these materials have in common--lack of a crystal structure. Each material consists of a highly disordered array of active molecules, which is believed in turn to give rise to large energetic fluctuations along the conduction pathways. Computer simulations of hopping transport on a disordered lattice have shown behavior in agreement with many aspects of experiment, lending support to the concept of a disorder-based mechanism. To increase our understanding of the high-field effects of disorder, we have developed a self-consistent algorithm with which the field dependence of the mobility in disordered systems may be calculated analytically. We examine the field dependence within this framework, and suggest that the (root)E- dependence may be understood when the theory of Scher and Montroll is applied to a length scale which the hopping matrix may be considered to be of a lower dimensionality.

  8. Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

    PubMed Central

    Morgan, Neil V.; Goddard, Sarah; Cardno, Tony S.; McDonald, David; Rahman, Fatimah; Barge, Dawn; Ciupek, Andrew; Straatman-Iwanowska, Anna; Pasha, Shanaz; Guckian, Mary; Anderson, Graham; Huissoon, Aarnoud; Cant, Andrew; Tate, Warren P.; Hambleton, Sophie; Maher, Eamonn R.

    2011-01-01

    Inherited immunodeficiency disorders can be caused by mutations in any one of a large number of genes involved in the function of immune cells. Here, we describe two families with an autosomal recessive inherited immunodeficiency disorder characterized by increased susceptibility to infection and autoimmunity. Genetic linkage studies mapped the disorder to chromosomal region 14q11.2, and a homozygous guanine-to-adenine substitution was identified at the last base of exon 3 immediately following the translational termination codon in the TCRα subunit constant gene (TRAC). RT-PCR analysis in the two affected individuals revealed impaired splicing of the mRNA, as exon 3 was lost from the TRAC transcript. The mutant TCRα chain protein was predicted to lack part of the connecting peptide domain and all of the transmembrane and cytoplasmic domains, which have a critical role in the regulation of the assembly and/or intracellular transport of TCR complexes. We found that T cells from affected individuals were profoundly impaired for surface expression of the TCRαβ complex. We believe this to be the first report of a disease-causing human TRAC mutation. Although the absence of TCRαβ+ T cells in the affected individuals was associated with immune dysregulation and autoimmunity, they had a surprising level of protection against infection. PMID:21206088

  9. Acquired immune deficiency syndrome (AIDS).

    PubMed

    1987-02-01

    The International Planned Parenthood Medical Advisory Panel has developed recommendations to assist family planning associations in playing a more active role in the prevention and control of acquired immunodeficiency syndrome (AIDS). Of primary importance is an effective program of information and education aimed at communicating the following facts: AIDS is a fatal disease for which there is no cure; AIDS is spread by sexual intercourse, contaminated blood, and contaminated needles; an infected woman can transmit AIDS to her fetus during pregnancy; a monogamous sexual relationship is the surest way to avoid AIDS infection; condom use is good protection; an infected person can look and feel well, yet still be able to transmit the AIDS virus; and AIDS is not spread by ordinary contact with an infected person. Family planning associations should include information on AIDS in all existing IEC projects, as well as develop new materials. Among the target audiences for IEC activities are family planning workers, family planning clients, and the general public including youth, teachers, parents, employers, and national leaders. Special attention should be given to high-risk groups such as homosexual and bisexual men, hemophiliacs, male and female prostitutes, clients of sexually transmitted disease clinics, people with many sexual partners, illegal users of intravenous drugs, and the sexual partners of those in any of these groups. Wide promotion of condom use is a priority activity for family planning organizations. PMID:12340977

  10. Infections Acquired in the Garden.

    PubMed

    Cunha, Cheston B; Cunha, Burke A

    2015-10-01

    Gardening is a wonderful pastime, and the garden is a very peaceful place to enjoy one's vacation. However, the garden may be a treacherous place for very young or compromised hosts when one takes into account the infectious potential residing in the soil, as well as the insect vectors on plants and animals. Even normal hosts may acquire a variety of infections from the soil, animals, or animal-related insect bites. The location of the garden, its natural animal and insect inhabitants, and the characteristics of the soil play a part in determining its infectious potential. The most important factor making the garden an infectious and dangerous place is the number and interaction of animals, whether they are pets or wild, that temporarily use the garden for part of their daily activities. The clinician should always ask about garden exposure, which will help in eliminating the diagnostic possibilities for the patient. The diagnostic approach is to use epidemiological principles in concert with clinical clues, which together should suggest a reasonable list of diagnostic possibilities. Organ involvement and specific laboratory tests help further narrow the differential diagnosis and determine the specific tests necessary to make a definitive diagnosis. PMID:26542044

  11. Time Dysperception Perspective for Acquired Brain Injury

    PubMed Central

    Piras, Federica; Piras, Fabrizio; Ciullo, Valentina; Danese, Emanuela; Caltagirone, Carlo; Spalletta, Gianfranco

    2014-01-01

    Distortions of time perception are presented by a number of neuropsychiatric illnesses. Here we survey timing abilities in clinical populations with focal lesions in key brain structures recently implicated in human studies of timing. We also review timing performance in amnesic and traumatic brain injured patients in order to identify the nature of specific timing disorders in different brain damaged populations. We purposely analyzed the complex relationship between both cognitive and contextual factors involved in time estimation, as to characterize the correlation between timed and other cognitive behaviors in each group. We assume that interval timing is a solid construct to study cognitive dysfunctions following brain injury, as timing performance is a sensitive metric of information processing, while temporal cognition has the potential of influencing a wide range of cognitive processes. Moreover, temporal performance is a sensitive assay of damage to the underlying neural substrate after a brain insult. Further research in neurological and psychiatric patients will clarify whether time distortions are a manifestation of, or a mechanism for, cognitive and behavioral symptoms of neuropsychiatric disorders. PMID:24454304

  12. Surface Sampler Arm Acquiring Sample

    NASA Technical Reports Server (NTRS)

    1976-01-01

    Operation of the surface sampler in obtaining Martian soil for Viking 2's molecular analysis experiment last Saturday (September 25) was closely monitored by one of the Lander cameras because of the precision required in trenching the small area--8 by 9 inches-surrounded by rocks. Dubbed 'Bonneville Salt Flats,' the exposure of thin crust appeared unique in contrast with surrounding materials and became a prime target for organic analysis in spite of potential hazards. Large rock in foreground is 8 inches high. At left, the sampler scoop has touched the surface, missing the rock at upper left by a comfortable 6 inches, and the backhoe has penetrated the surface about one-half inch. The scoop was then pulled back to sample the desired point and (second photo) the backhoe furrowed the surface pulling a piece of thin crust toward the spacecraft. The initial touchdown and retraction sequence was used to avoid a collision between a rock in the shadow of the arm and a plate joining the arm and scoop. The rock was cleared by 2 to 3 inches. The third picture was taken 8 minutes after the scoop touched the surface and shows that the collector head has acquired a quantity of soil. With surface sampler withdrawn (right), the foot-long trench is seen between the rocks. The trench is three inches wide and about 1 1/2 to 2 inches deep. The scoop reached to within 3 inches of the rock at far end of trench. Penetration appears to have left a cavernous opening roofed by the crust and only about one inch of undisturbed crust separates the deformed surface and the rock.

  13. Unexpected postpartum hemorrhage due to an acquired factor VIII inhibitor.

    PubMed

    Paidas, Michael J; Hossain, Nazli

    2014-09-01

    Unexplained postpartum hemorrhage (PPH) refractory to standard hemostatic measures should trigger a heightened clinical suspicion of an acquired bleeding disorder. When hemostatic medical interventions and surgical procedures fail to control the bleeding, then significant postoperative blood loss, debilitating morbidity, loss of fertility, and death may occur. In the setting of an autoantibody inhibitor to factor VIII (FVIII), control of life-threatening PPH and avoidance of subsequent bleeding episodes depends on a timely and accurate diagnosis, prompt hemostatic treatment and eradication of FVIII inhibitors, and appropriate long-term patient care and management. Acquired postpartum hemophilia due to a FVIII inhibitor is a rare cause of PPH; however, delayed treatment can lead to increased maternal morbidity and mortality. Acquired FVIII inhibitors also pose an emerging bleeding threat to the neonate as a result of possible transplacental transfer of FVIII autoantibodies to the fetus during the last trimester of pregnancy. The purpose of this review is to increase awareness among hematologists and obstetricians/gynecologists regarding the occurrence of FVIII neutralizing autoantibodies as a cause of PPH, and emphasize the importance of collaboration between obstetrician/gynecologists and hematology specialists to optimize the diagnostic evaluation, treatment, and long-term management of women who experience PPH due to an acquired FVIII inhibitor. PMID:24338123

  14. Genetic and Biochemical Characterization of an Acquired Subgroup B3 Metallo-β-Lactamase Gene, blaAIM-1, and Its Unique Genetic Context in Pseudomonas aeruginosa from Australia

    PubMed Central

    Yong, Dongeun; Toleman, Mark A.; Bell, Jan; Ritchie, Brett; Pratt, Rachael; Ryley, Henry

    2012-01-01

    Three clinical Pseudomonas aeruginosa isolates (WCH2677, WCH2813, and WCH2837) isolated from the Women's and Children's Hospital, Adelaide, Australia, produced a metallo-β-lactamase (MBL)-positive Etest result. All isolates were PCR negative for known MBL genes. A gene bank was created, and an MBL gene, designated blaAIM-1, was cloned and fully characterized. The encoded enzyme, AIM-1, is a group B3 MBL that has the highest level of identity to THIN-B and L1. It is chromosomal and flanked by two copies (one intact and one truncated) of an ISCR element, ISCR15. Southern hybridization studies indicated the movement of both ISCR15 and blaAIM-1 within the three different clinical isolates. AIM-1 hydrolyzes most β-lactams, with the exception of aztreonam and, to a lesser extent, ceftazidime; however, it possesses significantly higher kcat values for cefepime and carbapenems than most other MBLs. AIM-1 was the first mobile group B3 enzyme detected and signals further problems for already beleaguered antimicrobial regimes to treat serious P. aeruginosa and other Gram-negative infections. PMID:22985886

  15. Genetic and biochemical characterization of an acquired subgroup B3 metallo-β-lactamase gene, blaAIM-1, and its unique genetic context in Pseudomonas aeruginosa from Australia.

    PubMed

    Yong, Dongeun; Toleman, Mark A; Bell, Jan; Ritchie, Brett; Pratt, Rachael; Ryley, Henry; Walsh, Timothy R

    2012-12-01

    Three clinical Pseudomonas aeruginosa isolates (WCH2677, WCH2813, and WCH2837) isolated from the Women's and Children's Hospital, Adelaide, Australia, produced a metallo-β-lactamase (MBL)-positive Etest result. All isolates were PCR negative for known MBL genes. A gene bank was created, and an MBL gene, designated bla(AIM-1), was cloned and fully characterized. The encoded enzyme, AIM-1, is a group B3 MBL that has the highest level of identity to THIN-B and L1. It is chromosomal and flanked by two copies (one intact and one truncated) of an ISCR element, ISCR15. Southern hybridization studies indicated the movement of both ISCR15 and bla(AIM-1) within the three different clinical isolates. AIM-1 hydrolyzes most β-lactams, with the exception of aztreonam and, to a lesser extent, ceftazidime; however, it possesses significantly higher k(cat) values for cefepime and carbapenems than most other MBLs. AIM-1 was the first mobile group B3 enzyme detected and signals further problems for already beleaguered antimicrobial regimes to treat serious P. aeruginosa and other Gram-negative infections. PMID:22985886

  16. 17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 17 Commodity and Securities Exchanges 2 2011-04-01 2011-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND... Statements of Smaller Reporting Companies § 210.8-06 Real estate operations acquired or to be acquired....

  17. 17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 17 Commodity and Securities Exchanges 2 2013-04-01 2013-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND...-06 Real estate operations acquired or to be acquired. If, during the period for which...

  18. 17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 17 Commodity and Securities Exchanges 3 2014-04-01 2014-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND...-06 Real estate operations acquired or to be acquired. If, during the period for which...

  19. 17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 17 Commodity and Securities Exchanges 2 2012-04-01 2012-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND...-06 Real estate operations acquired or to be acquired. If, during the period for which...

  20. 17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 17 Commodity and Securities Exchanges 2 2010-04-01 2010-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND... Statements of Smaller Reporting Companies § 210.8-06 Real estate operations acquired or to be acquired....

  1. Congenital and acquired orthopedic abnormalities in patients with myelomeningocele.

    PubMed

    Westcott, M A; Dynes, M C; Remer, E M; Donaldson, J S; Dias, L S

    1992-11-01

    This article presents a radiologic review of the spectrum of acquired and congenital orthopedic abnormalities found in patients with myelomeningocele. These abnormalities are caused predominantly by muscle imbalance, paralysis, and decreased sensation in the lower extremity. Iatrogenic injury, such as a postoperative tethered cord, may also cause bone abnormalities. Selected images were obtained from more than 800 children. Important entities presented include spinal curvatures such as kyphosis, scoliosis, and lordosis; subluxation and dislocation of the hip, coxa valga, contractures of the hip, and femoral torsion; knee deformities; rotational abnormalities of the lower extremity and external and internal torsion; ankle and foot abnormalities such as ankle valgus, calcaneus foot, congenital vertical talus (rocker-bottom deformity), and talipes equinovarus; and metaphyseal, diaphyseal, and physeal fractures. Familiarity with congenital abnormalities and an understanding of the pathogenesis of acquired disorders in patients with myelomeningocele are essential for proper radiologic interpretation and timely therapy. PMID:1439018

  2. MECP2 disorders: from the clinic to mice and back

    PubMed Central

    Lombardi, Laura Marie; Baker, Steven Andrew; Zoghbi, Huda Yahya

    2015-01-01

    Two severe, progressive neurological disorders characterized by intellectual disability, autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome, result from loss and gain of function, respectively, of the same critical gene, methyl-CpG–binding protein 2 (MECP2). Neurons acutely require the appropriate dose of MECP2 to function properly but do not die in its absence or overexpression. Instead, neuronal dysfunction can be reversed in a Rett syndrome mouse model if MeCP2 function is restored. Thus, MECP2 disorders provide a unique window into the delicate balance of neuronal health, the power of mouse models, and the importance of chromatin regulation in mature neurons. In this Review, we will discuss the clinical profiles of MECP2 disorders, the knowledge acquired from mouse models of the syndromes, and how that knowledge is informing current and future clinical studies. PMID:26237041

  3. B cell epitope mapping and characterization of naturally acquired antibodies to the Plasmodium vivax Merozoite Surface Protein-3α (PvMSP-3α) in malaria exposed individuals from Brazilian Amazon

    PubMed Central

    Lima-Junior, JC; Jiang, J; Rodrigues-da-Silva, RN; Banic, DM; Tran, TM; Ribeiro, RY; Meyer, VSE; De-Simone, SG; Santos, F; Moreno, A; Barnwell, JW; Galinski, MR; Oliveira-Ferreira, J

    2011-01-01

    The Plasmodium vivax Merozoite Surface Protein-3α (PvMSP-3α) is considered as a potential vaccine candidates. However, the detailed investigations of the type of immune responses induced in naturally exposed populations are necessary. Therefore, we aim to characterize the naturally induced antibody to PvMSP-3α in 282 individuals with different levels of exposure to malaria infections residents in Brazilian Amazon. PvMSP3 specific antibodies (IgA, IgG and IgG subclass) to five recombinant proteins and the epitope mapping by Spot-synthesis technique to full-protein sequence of amino acids (15aa sequence with overlapping sequence of 9aa) were performed. Our results indicates that PvMSP3 is highly immunogenic in naturally exposed populations, where 78% of studied individuals present IgG immune response against the full-length recombinant protein (PVMSP3-FL) and IgG subclass profile was similar to all five recombinant proteins studied with a high predominance of IgG1 and IgG3. We also observe that IgG and subclass levels against PvMSP3 are associated with malaria exposure. The PvMSP3 epitope mapping by spot-synthesis shows a natural recognition of at least 15 antigenic determinants, located mainly in the two blocks of repeats, confirming the high immunogenicity of this region. In conclusion, PvMSP-3α is immunogenic in naturally exposed individuals to malaria infections and that antibodies to PvMSP3 are induced to several B cell epitopes. The presence of PvMSP3 cytophilic antibodies (IgG1 and IgG3), suggest that this mechanisms could also occur in P. vivax. PMID:21215342

  4. [Skin-picking disorder].

    PubMed

    Niemeier, V; Peters, E; Gieler, U

    2015-10-01

    The disorder is characterized by compulsive repetitive skin-picking (SP), resulting in skin lesions. The patients must have undertaken several attempts to reduce or stop SP. The disorder must have led to clinically significant limitations in social, professional, or other important areas of life. The symptoms cannot be better explained by another emotional disorder or any other dermatological disease. In the new DSM-V, skin-picking disorder has been included in the diagnostic system as an independent disorder and describes the self-injury of the skin by picking or scratching with an underlying emotional disorder. SP is classified among the impulse-control disorders and is, thus, differentiated from compulsive disorders as such. There are often emotional comorbidities. In cases of pronounced psychosocial limitation, interdisciplinary cooperation with a psychotherapist and/or psychiatrist is indicated. PMID:26391325

  5. A novel NREM and REM parasomnia with sleep breathing disorder associated with antibodies against IgLON5: a case series, pathological features, and characterization of the antigen

    PubMed Central

    Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis; Lewerenz, Jan; Torres-Vega, Estefanía; Contreras, Angeles; Giometto, Bruno; Compta, Yaroslau; Embid, Cristina; Vilaseca, Isabel; Iranzo, Alex; Santamaría, Joan; Dalmau, Josep; Graus, Francesc

    2014-01-01

    Summary Background Autoimmunity may be involved in sleep and neurodegenerative disorders. We aimed to describe a neurological syndrome with prominent sleep dysfunction and antibodies to a previously unknown neuronal antigen. Methods In this observational study, clinical and video-polysomnography (V- PSG) investigations identified a novel sleep disorder in three patients referred to the Sleep Unit of Hospital Clinic University of Barcelona for abnormal sleep behaviors and obstructive sleep apnea(OSA). They had antibodies against a neuronal surface antigen also present in five additional patients referred to our laboratory for antibody studies. These five patients had been evaluated with PSG and in two, the study was done or reviewed in our Sleep Unit. Two patients underwent postmortem brain examination. Immunoprecipitation and mass spectrometry were used to characterize the antigen and to develop a diagnostic test. Serum or CSF from 285 patients with neurodegenerative, sleep, or autoimmune disorders served as controls. Findings All eight patients (five women; range: 52–76 years, median 59) had abnormal sleep movements and behaviors and OSA confirmed by PSG. Six patients had a chronic evolution (range 2–12 years, median 5.5); in four the sleep disorder was the initial and most prominent feature, and in two it was preceded by gait instability, and followed by dysarthria, dysphagia, ataxia, or chorea. Two patients had a rapid evolution with disequilibrium, dysarthria, dysphagia, and central hypoventilation, and died two and six months after symptom onset. In 5/5 patients, the V-PSG reviewed in our Unit disclosed OSA, stridor, and abnormal sleep architecture with undifferentiated NREM sleep or poorly structured stage N2 with simple movements and finalistic behaviors, normalization of NREM sleep by the end of the night, and REM sleep behavior disorder. Four/4 patients carried the HLA-DRB1*1001 and HLA-DQB1*0501 alleles. All patients had antibodies (mainly IgG4

  6. Characterization of gait and olfactory behaviors in the Balb/c mouse model of autism spectrum disorders.

    PubMed

    Burket, Jessica A; Young, Chelsea M; Green, Torrian L; Benson, Andrew D; Deutsch, Stephen I

    2016-04-01

    Abnormalities of gait and olfaction have been reported in persons with autism spectrum disorders (ASDs), which could reflect involvement of the cerebellum and nodes related to olfaction (e.g., olfactory bulb and ventral temporal olfactory cortex) in neural circuits subserving social, cognitive, and motor domains of psychopathology in these disorders. We hypothesized that the Balb/c mouse model of ASD would express "abnormalities" of gait and olfaction, relative to the Swiss Webster comparator strain. Contrary to expectation, Balb/c and Swiss Webster mice did not differ in terms of quantitative measurements of gait and mouse rotarod behavior, and Balb/c mice displayed a shorter latency to approach an unscented cotton swab, suggesting that there was no disturbance of its locomotor behavior. However, Balb/c mice showed significant inhibition of locomotor activity in the presence of floral scents, including novel and familiar floral scents, and a socially salient odor (i.e., concentrated mouse urine); the inhibitory effect on the locomotor behavior of the Balb/c mouse was especially pronounced with the salient social odor. Unlike the Swiss Webster strain, mouse urine lacks social salience for the Balb/c mouse strain, a model of ASD, which does not appear to be an artifact of diminished olfactory sensitivity or impaired locomotion. PMID:26917431

  7. Acquiring synaesthesia: insights from training studies

    PubMed Central

    Rothen, Nicolas; Meier, Beat

    2014-01-01

    Synaesthesia denotes a condition of remarkable individual differences in experience characterized by specific additional experiences in response to normal sensory input. Synaesthesia seems to (i) run in families which suggests a genetic component, (ii) is associated with marked structural and functional neural differences, and (iii) is usually reported to exist from early childhood. Hence, synaesthesia is generally regarded as a congenital phenomenon. However, most synaesthetic experiences are triggered by cultural artifacts (e.g., letters, musical sounds). Evidence exists to suggest that synaesthetic experiences are triggered by the conceptual representation of their inducer stimuli. Cases were identified for which the specific synaesthetic associations are related to prior experiences and large scale studies show that grapheme-color associations in synaesthesia are not completely random. Hence, a learning component is inherently involved in the development of specific synaesthetic associations. Researchers have hypothesized that associative learning is the critical mechanism. Recently, it has become of scientific and public interest if synaesthetic experiences may be acquired by means of associative training procedures and whether the gains of these trainings are associated with similar cognitive benefits as genuine synaesthetic experiences. In order to shed light on these issues and inform synaesthesia researchers and the general interested public alike, we provide a comprehensive literature review on developmental aspects of synaesthesia and specific training procedures in non-synaesthetes. Under the light of a clear working definition of synaesthesia, we come to the conclusion that synaesthesia can potentially be learned by the appropriate training. PMID:24624072

  8. Acquired tracheoesophageal fistula in infancy and childhood.

    PubMed

    Szold, A; Udassin, R; Seror, D; Mogle, P; Godfrey, S

    1991-06-01

    Acquired tracheoesophageal fistula (TEF) is a rare entity in the pediatric age group. We report two pediatric patients with acquired TEF caused by shells of pistachio nuts. In both patients the primary operation did not resolve the problem and a second intervention for recurrent fistula was needed. The special nature of acquired TEF, particularly the one described herein, requires delayed surgical intervention and meticulous separation of the respiratory and alimentary tracts by an intercostal muscle flap. PMID:1941455

  9. Acquired stuttering due to recurrent anaplastic astrocytoma

    PubMed Central

    Peters, Katherine B; Turner, Scott

    2013-01-01

    Acquired (neurogenic) stuttering is a rare phenomenon seen after cerebral infarction or brain injury. Aetiology of this symptom is unclear, but recent evidence supports that it is a disturbance in the left hemispheric neural network involving the interplay between the cortex and basal ganglia. We present the case of a patient who develops acquired stuttering after a recurrence of a right temporoparietal anaplastic astrocytoma (WHO grade III). We also review other cases of acquired stuttering and known anatomical correlates. PMID:24252834

  10. Acquired Platelet Dysfunction with Eosinophilia (APDE) Syndrome: A Case Report.

    PubMed

    Yadav, Diksha D; Nayar, Priyanka S; Manchanda, Rumma V

    2016-06-01

    Acquired platelet dysfunction with eosinophilia (APDE) is a syndrome which has transient state of platelet dysfunction in the presence of marked eosinophilia. This bleeding disorder, otherwise known as "non-thrombocytopenic purpura with eosinophilia", occurs commonly in children from South-East Asia. We report an 11 years old male child, who presented with ecchymotic patches over lower limbs, of recent onset. His hemogram revealed increased eosinophils with a normal platelet count. Coagulation screen revealed normal parameters except increase in bleeding time. Platelet aggregation studies showed normal platelet aggregation with ristocetin, reduced aggregation with ADP and no aggregation was seen with collagen. PMID:27408400

  11. Generalized acquired cutis laxa type 1: a case report and brief review of literature.

    PubMed

    Kumar, Piyush; Savant, Sushil S; Das, Anupam

    2016-01-01

    Cutis laxa, clinically characterized by loose and pendulous skin related to loss of elastic tissue, is a rare heterogeneous condition. It is classified into congenital and acquired types. We report a case of generalized acquired cutis laxa type 1 in a young man following pruritic urticarial plaques. We have done a brief review of literature. PMID:27136630

  12. Insights from Genetic Disorders of Phosphate Homeostasis

    PubMed Central

    Christov, Marta; Jüppner, Harald

    2013-01-01

    The molecular identification and characterization of genetic defects leading to a number of rare inherited or acquired disorders affecting phosphate homeostasis has added tremendous detail to our understanding of the regulation of phosphate balance. The identification of the key phosphate-regulating hormone, fibroblast growth factor 23 (FGF23), as well as other molecules that control its production, such as the glycosyltransferase GALNT3, the endopeptidase PHEX and the matrix protein DMP1, and molecules that function as downstream effectors of FGF23, such as the longevity factor Klotho and the phosphate transporters NPT2a and NPT2c, has permitted us to understand the elegant and complex interplay that exists between the kidneys, bone, parathyroid, and gut. Such insights from genetic disorders have allowed not only the design of potent targeted therapies for some of these rare genetic disorders, such as using anti-FGF23 antibodies for treatment of X-linked hypophosphatemic rickets, but also have led to clinically relevant observations related to the dysregulation of mineral ion homeostasis in chronic kidney disease. Thus, we are able to leverage our knowledge of rare human disorders affecting only few individuals, to understand and potentially treat disease processes that affect millions of patients. PMID:23465501

  13. Synthesis, Characterization, and Preclinical Evaluation of New Thiazolidin-4-Ones Substituted with p-Chlorophenoxy Acetic Acid and Clofibric Acid against Insulin Resistance and Metabolic Disorder

    PubMed Central

    Gowdra, Vasantharaju S.; Bansal, Punit; Nayak, Pawan G.; Manohara Reddy, Seethappa A.; Shenoy, Gautham G.; Chamallamudi, Mallikarjuna R.; Nampurath, Gopalan K.

    2014-01-01

    We synthesized twenty thiazolidin-4-one derivatives, which were then characterized by standard chromatographic and spectroscopic methods. From the in vitro glucose uptake assay, two compounds behaved as insulin sensitizers, where they enhanced glucose uptake in isolated rat diaphragm. In high-carbohydrate diet-induced insulin resistant mice, these two thiazolidin-4-ones attenuated hyperglycemia, hyperinsulinemia, hypertriglyceridemia, hypercholesterolemia, and glucose intolerance. They raised the plasma leptin but did not reverse the diabetes-induced hypoadiponectinemia. Additionally, compound 3a reduced adiposity. The test compounds were also able to reverse the disturbed liver antioxidant milieu. To conclude, these two novel thiazolidin-4-ones modulated multiple mechanisms involved in metabolic disorders, reversing insulin resistance and thus preventing the development of type-2 diabetes. PMID:24995315

  14. Molecular and cytogenetic characterization of expanded B-cell clones from multiclonal versus monoclonal B-cell chronic lymphoproliferative disorders

    PubMed Central

    Henriques, Ana; Rodríguez-Caballero, Arancha; Criado, Ignacio; Langerak, Anton W.; Nieto, Wendy G.; Lécrevisse, Quentin; González, Marcos; Cortesão, Emília; Paiva, Artur; Almeida, Julia; Orfao, Alberto

    2014-01-01

    Chronic antigen-stimulation has been recurrently involved in the earlier stages of monoclonal B-cell lymphocytosis, chronic lymphocytic leukemia and other B-cell chronic lymphoproliferative disorders. The expansion of two or more B-cell clones has frequently been reported in individuals with these conditions; potentially, such coexisting clones have a greater probability of interaction with common immunological determinants. Here, we analyzed the B-cell receptor repertoire and molecular profile, as well as the phenotypic, cytogenetic and hematologic features, of 228 chronic lymphocytic leukemia-like and non-chronic lymphocytic leukemia-like clones comparing multiclonal (n=85 clones from 41 cases) versus monoclonal (n=143 clones) monoclonal B-cell lymphocytosis, chronic lymphocytic leukemia and other B-cell chronic lymphoproliferative disorders. The B-cell receptor of B-cell clones from multiclonal cases showed a slightly higher degree of HCDR3 homology than B-cell clones from mono clonal cases, in association with unique hematologic (e.g. lower B-lymphocyte counts) and cytogenetic (e.g. lower frequency of cytogenetically altered clones) features usually related to earlier stages of the disease. Moreover, a subgroup of coexisting B-cell clones from individual multiclonal cases which were found to be phylogenetically related showed unique molecular and cytogenetic features: they more frequently shared IGHV3 gene usage, shorter HCDR3 sequences with a greater proportion of IGHV mutations and del(13q14.3), than other unrelated B-cell clones. These results would support the antigen-driven nature of such multiclonal B-cell expansions, with potential involvement of multiple antigens/epitopes. PMID:24488564

  15. Bipolar disorder

    MedlinePlus

    Manic depression; Bipolar affective disorder; Mood disorder - bipolar; Manic depressive disorder ... happiness and high activity or energy (mania) or depression and low activity or energy (depression). The following ...

  16. Three Cases of Acquired Simulated Brown Syndrome after Blowout Fracture Operations

    PubMed Central

    Ji, So Young; Yoo, Jae Hong; Ha, Won; Lee, Ji Won

    2015-01-01

    Brown syndrome is known as limited elevation of the affected eye during adduction. It is caused by a disorder of the superior oblique tendon, which makes it difficult for the eyeball to look upward, especially during adduction. It is classified into congenital true sheath Brown syndrome and acquired simulated Brown syndrome. Acquired simulated Brown syndrome can be caused by trauma, infection, or inflammatory conditions. The surgical restoration of blowout fractures can also lead to limitations of ocular motility, including Brown syndrome. We report on three patients with acquired simulated Brown syndrome, who complained of diplopia and limitation of ocular motility after operations to treat blowout fractures. PMID:26015892

  17. Three cases of acquired simulated brown syndrome after blowout fracture operations.

    PubMed

    Ji, So Young; Yoo, Jae Hong; Ha, Won; Lee, Ji Won; Yang, Wan Suk

    2015-05-01

    Brown syndrome is known as limited elevation of the affected eye during adduction. It is caused by a disorder of the superior oblique tendon, which makes it difficult for the eyeball to look upward, especially during adduction. It is classified into congenital true sheath Brown syndrome and acquired simulated Brown syndrome. Acquired simulated Brown syndrome can be caused by trauma, infection, or inflammatory conditions. The surgical restoration of blowout fractures can also lead to limitations of ocular motility, including Brown syndrome. We report on three patients with acquired simulated Brown syndrome, who complained of diplopia and limitation of ocular motility after operations to treat blowout fractures. PMID:26015892

  18. Angiooedema due to acquired deficiency of C1-esterase inhibitor associated with leucocytoclastic vasculitis.

    PubMed

    Farkas, H; Szongoth, M; Bély, M; Varga, L; Fekete, B; Karádi, I; Füst, G

    2001-01-01

    A hereditary and an acquired type of C1-esterase inhibitor deficiency have been described. Manifestations characteristic of both forms include recurrent subcutaneous and submucosal angiooedema. Acquired C1-esterase inhibitor deficiency has been observed in association with lymphoproliferative disorders, malignancy, autoimmune diseases and infections. We report on a case with the acquired form of the disease accompanied by leucocytoclastic vasculitis. Treatment with antimalarial agents resulted in complete resolution of symptoms and signs. Furthermore, C1-esterase inhibitor concentration and activity, as well as C1 levels, all returned to normal. PMID:11720182

  19. Acquired haemophilia complicated with gastrointestinal bleeding and spontaneous iliopsoas muscle haematoma in a woman with chronic C hepatitis under treatment with pegylated IFN alpha 2a and ribavirin.

    PubMed

    Boţianu, Ana-Maria; Demian, Smaranda; Macarie, Ioan; Georgescu, Dan; Oltean, Galafteon; Băţagă, Simona

    2012-03-01

    Acquired haemophilia A is a very rare (1-2 cases per million people) but often life-threatening haemorrhagic disorder characterized by antibodies directed against coagulation factor VIII. We report the case of a 55-year old woman under treatment with Pegylated alpha 2a interferon (IFN) and Ribavirin for chronic viral C hepatitis, who developed a progressive severe haemorrhagic syndrome diagnosed as acquired haemophilia based on supplementary laboratory data (prolonged activated partial thromboplastin time, extremely low factor VIII level - 1%, high titre of factor VIII inhibitor - 30 Bethesda U/ml).The onset was insidious, about three months before presenting to our unit. Antiviral therapy had been stopped three weeks before current admission. Emergency intensive treatment included: haemostatic agents - rFVII (Novoseven), FEIBA (Factor VIII Inhibitor Bypassing Activity), vitamin K, adrenostazin, cryoprecipitate, fresh frozen plasma, as well as immunosuppressive therapy (high dose corticotherapy and cyclophoshamide), immunoglobulins (Humaglobin), prophylactic PPI and antibiotics. The evolution was slowly favourable with the remission of the haemorrhagic syndrome and regression of the iliopsoas muscle haematoma. Clinicians should be aware that acquired forms of haemophilia do exist, representing a rare diagnosis and a therapeutic challenge. To our knowledge, this is the first reported case of acquired haemophilia in Romania, in a patient with chronic viral C hepatitis under antiviral treatment. PMID:22457865

  20. Acquired Surface Dyslexia: The Evidence from Hebrew.

    ERIC Educational Resources Information Center

    Birnboim, Smadar

    1995-01-01

    Investigates the symptoms of acquired surface dyslexia in Hebrew. Four acquired surface dyslexic adults were compared with eight normal second graders in terms of reading strategy. Homophones and homographs were a major source of difficulty for native Hebrew surface dyslexic readers; the normal second graders used a non-lexical strategy. (45…

  1. Acquiring and Managing Electronic Journals. ERIC Digest.

    ERIC Educational Resources Information Center

    Curtis, Donnelyn; Yue, Paoshan

    Electronic journals are both a blessing and a curse for libraries. To be meaningful in the current information environment--to meet users' ever-increasing demands--libraries must acquire as many appropriate full text resources as possible, as quickly as possible, and make them easy to use. This Digest provides tips for acquiring and providing…

  2. Pervasive Developmental Disorders

    MedlinePlus

    ... surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social ... TTY) Fax: 301-984-1473 MAAP Services for Autism, Asperger Syndrome, and PDD P.O. Box 524 ...

  3. Bipolar disorder

    MedlinePlus

    Manic depression; Bipolar affective disorder; Mood disorder - bipolar; Manic depressive disorder ... Bipolar disorder affects men and women equally. It most often starts between ages 15 and 25. The exact ...

  4. Cyclothymic disorder

    MedlinePlus

    ... mental disorder. It is a mild form of bipolar disorder (manic depressive illness), in which a person has ... causes of cyclothymic disorder are unknown. Major depression, bipolar disorder, and cyclothymia often occur together in families. This ...

  5. Ribosomopathies: human disorders of ribosome dysfunction.

    PubMed

    Narla, Anupama; Ebert, Benjamin L

    2010-04-22

    Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome biogenesis have been implicated in other rare congenital syndromes, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and Treacher Collins syndrome. In addition, the 5q- syndrome, a subtype of myelodysplastic syndrome, is caused by a somatically acquired deletion of chromosome 5q, which leads to haploinsufficiency of the ribosomal protein RPS14 and an erythroid phenotype highly similar to Diamond-Blackfan anemia. Acquired abnormalities in ribosome function have been implicated more broadly in human malignancies. The p53 pathway provides a surveillance mechanism for protein translation as well as genome integrity and is activated by defects in ribosome biogenesis; this pathway appears to be a critical mediator of many of the clinical features of ribosomopathies. Elucidation of the mechanisms whereby selective abnormalities in ribosome biogenesis cause specific clinical syndromes will hopefully lead to novel therapeutic strategies for these diseases. PMID:20194897

  6. Acquired long QT syndrome: a focus for the general pediatrician.

    PubMed

    Marzuillo, Pierluigi; Benettoni, Alessandra; Germani, Claudio; Ferrara, Giovanna; D'Agata, Biancamaria; Barbi, Egidio

    2014-04-01

    Acquired long QT syndrome (LQTS) is a disorder of cardiac repolarization most often due to specific drugs, hypokalemia, or hypomagnesemia that may precipitate torsade de pointes and cause sudden cardiac death. Common presentations of the LQTS are palpitations, presyncope, syncope, cardiac arrest, and seizures. An abnormal 12-lead electrocardiogram obtained while the patient is at rest is the key to diagnosis. The occurrence of drug-induced LQTS is unpredictable in any given individual, but a common observation is that most patients have at least 1 identifiable risk factor in addition to drug exposure. The cornerstone of the management of acquired LQTS includes the identification and discontinuation of any precipitating drug and the correction of metabolic abnormalities, such as hypokalemia or hypomagnesemia. Most of the episodes of torsade de pointes are short-lived and terminate spontaneously. We propose a management protocol that could be useful for the daily practice in the emergency pediatric department to reduce the risk of acquired QT prolongation. PMID:24694881

  7. Language Disorders in Multilingual and Multicultural Populations

    PubMed Central

    Goral, Mira; Conner, Peggy S.

    2014-01-01

    We review the characteristics of developmental language disorders (primary language impairment, reading disorders, autism, Down syndrome) and acquired language disorders (aphasia, dementia, traumatic brain injury) among multilingual and multicultural individuals. We highlight the unique assessment and treatment considerations pertinent to this population, including, for example, concerns of language choice and availability of measures and of normative data in multiple languages. A summary of relevant, recent research studies is provided for each of the language disorders selected. PMID:26257455

  8. Potential disadvantages of using socially acquired information.

    PubMed Central

    Giraldeau, Luc-Alain; Valone, Thomas J; Templeton, Jennifer J

    2002-01-01

    The acquisition and use of socially acquired information is commonly assumed to be profitable. We challenge this assumption by exploring hypothetical scenarios where the use of such information either provides no benefit or can actually be costly. First, we show that the level of incompatibility between the acquisition of personal and socially acquired information will directly affect the extent to which the use of socially acquired information can be profitable. When these two sources of information cannot be acquired simultaneously, there may be no benefit to socially acquired information. Second, we assume that a solitary individual's behavioural decisions will be based on cues revealed by its own interactions with the environment. However, in many cases, for social animals the only socially acquired information available to individuals is the behavioural actions of others that expose their decisions, rather than the cues on which these decisions were based. We argue that in such a situation the use of socially acquired information can lead to informational cascades that sometimes result in sub-optimal behaviour. From this theory of informational cascades, we predict that when erroneous cascades are costly, individuals should pay attention only to socially generated cues and not behavioural decisions. We suggest three scenarios that might be examples of informational cascades in nature. PMID:12495513

  9. Characterization of the Fiber Connectivity Profile of the Cerebral Cortex in Schizotypal Personality Disorder: A Pilot Study

    PubMed Central

    Liu, Kai; Zhang, Teng; Zhang, Qing; Sun, Yueji; Wu, Jianlin; Lei, Yi; Chu, Winnie C. W.; Mok, Vincent C. T.; Wang, Defeng; Shi, Lin

    2016-01-01

    Schizotypal personality disorder (SPD) is considered one of the classic disconnection syndromes. However, the specific cortical disconnectivity pattern has not been fully investigated. In this study, we aimed to explore significant alterations in whole-cortex structural connectivity in SPD individuals (SPDs) by combining the techniques of brain surface morphometry and white matter tractography. Diffusion and structural MR data were collected from 20 subjects with SPD (all males; age, 19.7 ± 0.9 years) and 18 healthy controls (all males; age, 20.3 ± 1.0 years). To measure the structural connectivity for a given unit area of the cortex, the fiber connectivity density (FiCD) value was proposed and calculated as the sum of the fractional anisotropy of all the fibers connecting to that unit area in tractography. Then, the resultant whole-cortex FiCD maps were compared in a vertex-wise manner between SPDs and controls. Compared with normal controls, SPDs showed significantly decreased FiCD in the rostral middle frontal gyrus (crossing BA 9 and BA 10) and significantly increased FiCD in the anterior part of the fusiform/inferior temporal cortex (P < 0.05, Monte Carlo simulation corrected). Moreover, the gray matter volume extracted from the left rostral middle frontal cluster was observed to be significantly greater in the SPD group (P = 0.02). Overall, this study identifies a decrease in connectivity in the left middle frontal cortex as a key neural deficit at the whole-cortex level in SPD, thus providing insight into its neuropathological basis. PMID:27303358

  10. Characterization of the Fiber Connectivity Profile of the Cerebral Cortex in Schizotypal Personality Disorder: A Pilot Study.

    PubMed

    Liu, Kai; Zhang, Teng; Zhang, Qing; Sun, Yueji; Wu, Jianlin; Lei, Yi; Chu, Winnie C W; Mok, Vincent C T; Wang, Defeng; Shi, Lin

    2016-01-01

    Schizotypal personality disorder (SPD) is considered one of the classic disconnection syndromes. However, the specific cortical disconnectivity pattern has not been fully investigated. In this study, we aimed to explore significant alterations in whole-cortex structural connectivity in SPD individuals (SPDs) by combining the techniques of brain surface morphometry and white matter tractography. Diffusion and structural MR data were collected from 20 subjects with SPD (all males; age, 19.7 ± 0.9 years) and 18 healthy controls (all males; age, 20.3 ± 1.0 years). To measure the structural connectivity for a given unit area of the cortex, the fiber connectivity density (FiCD) value was proposed and calculated as the sum of the fractional anisotropy of all the fibers connecting to that unit area in tractography. Then, the resultant whole-cortex FiCD maps were compared in a vertex-wise manner between SPDs and controls. Compared with normal controls, SPDs showed significantly decreased FiCD in the rostral middle frontal gyrus (crossing BA 9 and BA 10) and significantly increased FiCD in the anterior part of the fusiform/inferior temporal cortex (P < 0.05, Monte Carlo simulation corrected). Moreover, the gray matter volume extracted from the left rostral middle frontal cluster was observed to be significantly greater in the SPD group (P = 0.02). Overall, this study identifies a decrease in connectivity in the left middle frontal cortex as a key neural deficit at the whole-cortex level in SPD, thus providing insight into its neuropathological basis. PMID:27303358

  11. Flux growth, structure, and physical characterization of new disordered laser crystal LiNd(MoO4)2

    NASA Astrophysics Data System (ADS)

    Zhang, Yang; Cong, Hengjiang; Jiang, Huaidong; Li, Jing; Wang, Jiyang

    2015-08-01

    A millimeter-sized LiNd(MoO4)2 crystal has been grown using the flux method. LiNd(MoO4)2 crystallizes in the scheelite-type structure with space group I41/a, lattice parameters: a=5.26090(10) Å, c=11.5395(3) Å, V=319.379(15) Å3, and Z=2. The full-matrix, least-squares refinement with R=1.64 % and Rw=4.34 % shows that the Li and Nd atoms are completely disordered at jointly occupied sites. The theoretical growth morphology with indexed (hkl) planes was developed from the Bravais-Friedel-Donnay-Harker (BFDH) theory and it is in good agreement with the morphology of the as-grown crystals. The chemical composition was analyzed using an inductively coupled plasma emission spectrometer. The full set of thermal properties, including specific heat, thermal expansion, thermal diffusivity, and thermal conductivity of LiNd(MoO4)2 are reported. The UV-visible diffuse reflectance spectrum contains many strong and broad Nd3+ absorption lines over the spectral range from 300 to 1000 nm. Three transition emission bands located at 890, 1064 and 1335 nm are observed in the fluorescence spectrum. The fluorescence lifetime is measured to be 2 μs at room temperature. LiNd(MoO4)2 possesses a large absorption cross section of 1.04×10-20 cm2 at 804 nm and an emission cross section of 4.8×10-20 cm2 at 1064 nm.

  12. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

    PubMed Central

    Jansen, Jos C.; Timal, Sharita; van Scherpenzeel, Monique; Michelakakis, Helen; Vicogne, Dorothée; Ashikov, Angel; Moraitou, Marina; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; van den Boogert, Marjolein A.W.; Porta, Francesco; Calvo, Pier Luigi; Mavrikou, Mersyni; Cenacchi, Giovanna; van den Bogaart, Geert; Salomon, Jody; Holleboom, Adriaan G.; Rodenburg, Richard J.; Drenth, Joost P.H.; Huynen, Martijn A.; Wevers, Ron A.; Morava, Eva; Foulquier, François; Veltman, Joris A.; Lefeber, Dirk J.

    2016-01-01

    Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicated by the large number of proteins involved. As part of a strategy to identify human homologs of yeast proteins that are known to be involved in Golgi homeostasis, we identified uncharacterized transmembrane protein 199 (TMEM199, previously called C17orf32) as a human homolog of yeast V-ATPase assembly factor Vph2p (also known as Vma12p). Subsequently, we analyzed raw exome-sequencing data from families affected by genetically unsolved CDGs and identified four individuals with different mutations in TMEM199. The adolescent individuals presented with a mild phenotype of hepatic steatosis, elevated aminotransferases and alkaline phosphatase, and hypercholesterolemia, as well as low serum ceruloplasmin. Affected individuals showed abnormal N- and mucin-type O-glycosylation, and mass spectrometry indicated reduced incorporation of galactose and sialic acid, as seen in other Golgi homeostasis defects. Metabolic labeling of sialic acids in fibroblasts confirmed deficient Golgi glycosylation, which was restored by lentiviral transduction with wild-type TMEM199. V5-tagged TMEM199 localized with ERGIC and COPI markers in HeLa cells, and electron microscopy of a liver biopsy showed dilated organelles suggestive of the endoplasmic reticulum and Golgi apparatus. In conclusion, we have identified TMEM199 as a protein involved in Golgi homeostasis and show that TMEM199 deficiency results in a hepatic phenotype with abnormal glycosylation. PMID:26833330

  13. Clinical Characteristics of Community-Acquired Viridans Streptococcal Pneumonia

    PubMed Central

    Choi, Sun Ha; Choi, Keum-Ju; Lim, Jae-Kwang; Seo, Hyewon; Yoo, Seung-Soo; Lee, Jaehee; Lee, Shin-Yup; Kim, Chang-Ho; Park, Jae-Yong

    2015-01-01

    Background Viridans streptococci (VS) are a large group of streptococcal bacteria that are causative agents of community-acquired respiratory tract infection. However, data regarding their clinical characteristics are limited. The purpose of the present study was to investigate the clinical and radiologic features of community-acquired pneumonia (CAP) with or without parapneumonic effusion caused by VS. Methods Of 455 consecutive CAP patients with or without parapneumonic effusion, VS were isolated from the blood or pleural fluid in 27 (VS group, 5.9%) patients. Streptococcus pneumoniae was identified as a single etiologic agent in 70 (control group) patients. We compared various clinical parameters between the VS group and the control group. Results In univariate analysis, the VS group was characterized by more frequent complicated parapneumonic effusion or empyema and bed-ridden status, lower incidences of productive cough, elevated procalcitonin (>0.5 ng/mL), lower age-adjusted Charlson comorbidity index score, and more frequent ground glass opacity (GGO) or consolidation on computed tomography (CT) scans. Multivariate analysis demonstrated that complicated parapneumonic effusion or empyema, productive cough, bed-ridden status, and GGO or consolidation on CT scans were independent predictors of community-acquired respiratory tract infection caused by VS. Conclusion CAP caused by VS commonly presents as complicated parapneumonic effusion or empyema. It is characterized by less frequent productive cough, more frequent bed-ridden status, and less common CT pulmonary parenchymal lesions. However, its treatment outcome and clinical course are similar to those of pneumococcal pneumonia. PMID:26175772

  14. Autism spectrum disorder

    MedlinePlus

    Autism; Autistic disorder; Asperger syndrome; Childhood disintegrative disorder; Pervasive developmental disorder ... to be regarded as separate disorders: Autistic disorder Asperger syndrome Childhood disintegrative disorder Pervasive developmental disorder

  15. Optoperforation of Intact Plant Cells, Spectral Characterization of Alloy Disorder in InAsP Alloys, and Bimetallic Concentric Surfaces for Metal-Enhanced Fluorescence in Upconverting Nanocrystals

    NASA Astrophysics Data System (ADS)

    Merritt, Travis R.

    The techniques of optoperforation, spectral characterization of alloy disorder, and metal-enhanced uorescence were applied to previously unconsidered or disregarded systems in order to demonstrate that such applications are both feasible and consequential. These applications were the subject of three disparate works and, as such, are independently discussed. Despite being ostensibly restricted to mammalian cells, optoperforation was demonstrated in intact plant cells by means of successful femtosecond-laser-mediated infiltration of a membrane impermeable dextran-conjugated dye into cells of vital Arabidopsis seedling stems. By monitoring the rate of dye uptake, and the reaction of both CFP-expressing vacuoles and nanocellulose substrates, the intensity and exposure time of the perforating laser were adjusted to values that both preserved cell vitality and permitted the laser-assisted uptake of the uorophore. By using these calibrated laser parameters, dye was injected and later observed in targeted cells after 72 hours, all without deleteriously affecting the vital functions of those cells. In the context of alloy disorder, photoluminescence of excitonic transitions in two InAsxP1--x alloys were studied through temperature and magnetic field strength dependencies, as well as compositionally-dependent time-resolved behavior. The spectral shape, behavior of the linewidths at high magnetic fields, and the divergence of the peak positions from band gap behavior at low temperatures indicated that alloy disorder exists in the x=0.40 composition while showing no considerable presence in the x=0.13 composition. The time-resolved photoluminescence spectrum for both compositions feature a fast and slow decay, with the slow decay lifetime in x=0.40 being longer than that of x=0.13, which may be due to carrier migration between localized exciton states in x=0.40. In order to achieve broadband metal-enhanced uorescence in upconverting NaYF4:Yb,Er nanocrystals, two nanocomposite

  16. Community-acquired Acinetobacter baumannii: clinical characteristics, epidemiology and pathogenesis.

    PubMed

    Dexter, Carina; Murray, Gerald L; Paulsen, Ian T; Peleg, Anton Y

    2015-05-01

    Community-acquired Acinetobacter baumannii (CA-Ab) is a rare but serious cause of community-acquired pneumonia in tropical regions of the world. CA-Ab infections predominantly affect individuals with risk factors, which include excess alcohol consumption, diabetes mellitus, smoking and chronic lung disease. CA-Ab pneumonia presents as a surprisingly fulminant course and is characterized by a rapid onset of fever, severe respiratory symptoms and multi-organ dysfunction, with a mortality rate reported as high as 64%. It is unclear whether the distinct clinical syndrome caused by CA-Ab is because of host predisposing factors or unique bacterial characteristics, or a combination of both. Deepening our understanding of the drivers of overwhelming CA-Ab infection will provide important insights into preventative and therapeutic strategies. PMID:25850806

  17. Congenital and Acquired Abnormalities of the Corpus Callosum: A Pictorial Essay

    PubMed Central

    Krupa, Katarzyna; Bekiesinska-Figatowska, Monika

    2013-01-01

    The purpose of this review is to illustrate the wide spectrum of lesions in the corpus callosum, both congenital and acquired: developmental abnormalities, phakomatoses, neurometabolic disorders, demyelinating diseases, infection and inflammation, vascular lesions, neoplasms, traumatic and iatrogenic injury, and others. Cases include fetuses, children, and adults with rich iconography from the authors' own archive. PMID:24027754

  18. Acquired aphasia without deafness in childhood--the Landau-Kleffner syndrome.

    PubMed

    Hughes, A P; Appleton, R E; Hodgson, J

    1993-07-01

    A young boy presented with loss of speech and behaviour disturbance and was thought to be deaf. He was subsequently found to have the Landau-Kleffner syndrome (LKS), or acquired aphasia with epilepsy. Children with this disorder commonly present to an audiology or ENT clinic. Early recognition is important to initiate supportive, speech and educational care. PMID:15125283

  19. Epicutaneous model of community-acquired Staphylococcus aureus skin infections.

    PubMed

    Prabhakara, Ranjani; Foreman, Oded; De Pascalis, Roberto; Lee, Gloria M; Plaut, Roger D; Kim, Stanley Y; Stibitz, Scott; Elkins, Karen L; Merkel, Tod J

    2013-04-01

    Staphylococcus aureus is one of the most common etiological agents of community-acquired skin and soft tissue infection (SSTI). Although the majority of S. aureus community-acquired SSTIs are uncomplicated and self-clearing in nature, some percentage of these cases progress into life-threatening invasive infections. Current animal models of S. aureus SSTI suffer from two drawbacks: these models are a better representation of hospital-acquired SSTI than community-acquired SSTI, and they involve methods that are difficult to replicate. For these reasons, we sought to develop a murine model of community-acquired methicillin-resistant S. aureus SSTI (CA-MRSA SSTI) that can be consistently reproduced with a high degree of precision. We utilized this model to begin to characterize the host immune response to this type of infection. We infected mice via epicutaneous challenge of the skin on the outer ear pinna using Morrow-Brown allergy test needles coated in S. aureus USA300. When mice were challenged in this model, they developed small, purulent, self-clearing lesions with predictable areas of inflammation that mimicked a human infection. CFU in the ear pinna peaked at day 7 before dropping by day 14. The T(h)1 and T(h)17 cytokines gamma interferon (IFN-γ), interleukin-12 (IL-12) p70, tumor necrosis factor alpha (TNF-α), IL-17A, IL-6, and IL-21 were all significantly increased in the draining lymph node of infected mice, and there was neutrophil recruitment to the infection site. In vivo neutrophil depletion demonstrated that neutrophils play a protective role in preventing bacterial dissemination and fatal invasive infection. PMID:23381997

  20. Interventions based on the multiple connections model of reading for developmental dyslexia and acquired deep dyslexia.

    PubMed

    Berninger, V W; Lester, K; Sohlberg, M M; Mateer, C

    1991-01-01

    This paper deals with intervention strategies for developmental and acquired dyslexia. In Study 1 two alternative strategies for developmental surface dyslexia (dysfunctional connection between the whole word orthographic code and the phonetic or name code) were compared. In both the initial study and replication study, a modification of the selective reminding technique was superior to a traditional multisensory technique in beginning readers, presumably because it facilitated word finding or prelexical access to a phonetic code. In Study 2 an adolescent with acquired deep dyslexia (dysfunctional connection between letter and phonemic codes) who had had his angular gyrus (site of grapheme-phoneme correspondence) surgically removed, recovered reading function after a four-month phonemic analysis training program. Further research is needed to evaluate the efficacy of theory-based intervention strategies in children with developmental reading disorders unrelated to focal lesions and in adults with acquired reading disorders related to focal lesions. PMID:14589528

  1. Neurosurgical management of the acquired immunodeficiency syndrome. An update.

    PubMed Central

    Andrews, B T; Kenefick, T P

    1993-01-01

    A retrospective review of a 24-month experience on the neurosurgical service at a large metropolitan hospital identified 33 patients with the acquired immunodeficiency syndrome (AIDS) who underwent diagnostic or therapeutic procedures. Intracranial mass lesions unresponsive to empiric medical therapy for presumed Toxoplasma gondii encephalitis underwent diagnostic biopsy in 22 patients: primary lymphoma was identified in 10 (45%) of these patients, and biopsy led to a treatable diagnosis in 16 of the 22. Patients with lymphoma were significantly more likely to have a single mass lesion than those with other diagnoses. The remaining 11 patients had a wide variety of neurologic disorders, including multiple strokes and transverse myelitis, aspergillous fungal infection of the base of the skull, primary lymphoma of the spinal cord, cat-scratch fever of the spine causing painful radiculopathy, hydrocephalus associated with cryptococcal meningitis, and progressive inflammatory peripheral neuropathy. Two patients had lymphoma within the subarachnoid space. Three patients with well-controlled AIDS underwent elective neurosurgical therapy for intractable radiculopathies due to herniated lumbar discs in 2 and cervical spondylosis in 1. Current treatment strategies in AIDS appear to have limited the need for brain biopsy, but the spectrum of neurologic disorders has broadened, requiring continued participation by neurologists and neurosurgeons. With improved long-term survival, the elective treatment of non-AIDS-related neurologic disorders in selected patients may be appropriate. Images PMID:8460506

  2. [Gambling disorder in Japan].

    PubMed

    Tanabe, Hitoshi

    2015-09-01

    Gambling disorder is a psychiatric disorder characterized by persistent and recurrent problematic gambling behavior, associated with impaired functioning, reduced quality of life, and frequent divorce and bankruptcy. Gambling disorder is reclassified in the category Substance-Related and Addictive Disorders in the DSM-5 because its clinical features closely resemble those of substance use disorders, and gambling activates the reward system in brain in much the same way drugs do. Prevalence of gambling disorder in Japan is high rate because of slot machines and pachinko game are very popular in Japan. The author recommend group psychotherapy and self-help group (Gamblers Anonymous), because group dynamics make them accept their wrongdoings related to gambling and believe that they can enjoy their lives without gambling. PMID:26394523

  3. Autism spectrum disorders

    PubMed Central

    Faras, Hadeel; Al Ateeqi, Nahed; Tidmarsh, Lee

    2010-01-01

    Pervasive developmental disorders are a group of neurodevelopmental disorders characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. The term autism spectrum disorders (ASD) has been used to describe their variable presentation. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. More research is needed to explore environmental factors that could be contributing to the cause of these disorders. The occurrence of ASD has been increasing worldwide, with the most recent prevalence studies indicating that they are present in 6 per 1000 children. The objectives of this article are to provide physicians with relevant information needed to identify and refer children presenting with symptoms suggestive of ASDs to specialized centers early, and to make them feel comfortable in dealing with public concerns regarding controversial issues about the etiology and management of these disorders. PMID:20622347

  4. [Obsessive-compulsive disorder. A hidden disorder].

    PubMed

    Haraldsson, Magnús

    2015-02-01

    Obsessive-compulsive disorder is a common and often chronic psychiatric illness that significantly interferes with the patient´s functioning and quality of life. The disorder is characterized by excessive intrusive and inappropriate anxiety evoking thoughts as well as time consuming compulsions that cause significant impairment and distress. The symptoms are often accompanied by shame and guilt and the knowledge of the general public and professional community about the disorder is limited. Hence it is frequently misdiagnosed or diagnosed late. There are indications that the disorder is hereditary and that neurobiological processes are involved in its pathophysiology. Several psychological theories about the causes of obsessive-compulsive disorder are supported by empirical evidence. Evidence based treatment is either with serotoninergic medications or cognitive behavioral therapy, particularly a form of behavioral therapy called exposure response prevention. Better treatment options are needed because almost a third of people with obsessive-compulsive disorder respond inadequatly to treatment. In this review article two cases of obsessive-compulsive disorder are presented. The former case is a young man with typical symptoms that respond well to treatment and the latter is a middle aged lady with severe treatment resistant symptoms. She underwent stereotactic implantation of electrodes and received deep brain stimulation, which is an experimental treatment for severe obsessive-compulsive disorder that does not respond to any conventional treatment. Landspitali University Hospital, Division of Psychiatry. Faculty of Medicine, University of Iceland. PMID:25682808

  5. Bipolar Disorder

    MedlinePlus

    ... How Can I Help a Friend Who Cuts? Bipolar Disorder KidsHealth > For Teens > Bipolar Disorder Print A A ... Bipolar Disorder en español Trastorno bipolar What Is Bipolar Disorder? Bipolar disorders are one of several medical conditions ...

  6. Structural Characterization and In Vitro Antioxidant Activity of Kojic Dipalmitate Loaded W/O/W Multiple Emulsions Intended for Skin Disorders

    PubMed Central

    Marcussi, Diana Gleide; Calixto, Giovana Maria Fioramonti; Corrêa, Marcos Antonio

    2015-01-01

    Multiple emulsions (MEs) are intensively being studied for drug delivery due to their ability to load and increase the bioavailability of active lipophilic antioxidant, such as kojic dipalmitate (KDP). The aim of this study was to structurally characterize developed MEs by determining the average droplet size (Dnm) and zeta potential (ZP), performing macroscopic and microscopic analysis and analyzing their rheological behavior and in vitro bioadhesion. Furthermore, the in vitro safety profile and antioxidant activity of KDP-loaded MEs were evaluated. The developed MEs showed a Dnm of approximately 1 micrometer and a ZP of −13 mV, and no change was observed in Dnm or ZP of the system with the addition of KDP. KDP-unloaded MEs exhibited ‘‘shear thinning” flow behavior whereas KDP-loaded MEs exhibited Newtonian behavior, which are both characteristic of antithixotropic materials. MEs have bioadhesion properties that were not influenced by the incorporation of KDP. The results showed that the incorporation of KDP into MEs improved the safety profile of the drug. The in vitro antioxidant activity assay suggested that MEs presented a higher capacity for maintaining the antioxidant activity of KDP. ME-based systems may be a promising platform for the topical application of KDP in the treatment of skin disorders. PMID:25785265

  7. Characterizing effects of mild traumatic brain injury and posttraumatic stress disorder on balance impairments in blast-exposed servicemembers and Veterans using computerized posturography.

    PubMed

    Wares, Joanna R; Hoke, Kathy W; Walker, William; Franke, Laura Manning; Cifu, David X; Carne, William; Ford-Smith, Cheryl

    2015-01-01

    The high rate of blast exposures experienced by U.S. servicemembers (SMs) during the recent conflicts in Iraq and Afghanistan has resulted in frequent combat-related mild traumatic brain injuries (mTBIs). Dizziness and postural instability can persist after mTBI as a component of postconcussion syndrome, but also occur among the somatic complaints of posttraumatic stress disorder (PTSD). The goals of this study were to examine the use of computerized posturography (CPT) to objectively characterize chronic balance deficits after mTBI and to explore the utility of CPT in distinguishing between combat and blast-exposed participants with and without mTBI and PTSD. Data were analyzed from a subject pool of 166 combat-exposed SMs and Veterans who had a blast experience within the past 2 yr while deployed. Using nonparametric tests and measures of impairment, we found that balance was deficient in participants diagnosed with mTBI with posttraumatic amnesia (PTA) or PTSD versus those with neither and that deficits were amplified for participants with both diagnoses. In addition, unique deficiencies were found using CPT for individuals having isolated mTBI with PTA and isolated PTSD. Computerized balance assessment offers an objective technique to examine the physiologic effects and provide differentiation between participants with combat-associated mTBI and PTSD. PMID:26437003

  8. Cyclothymic disorder

    MedlinePlus

    ... It is a mild form of bipolar disorder (manic depressive illness), in which a person has mood swings over ... causes of cyclothymic disorder are unknown. Major depression, bipolar disorder, and cyclothymia often occur together in families. This ...

  9. TMJ Disorders

    MedlinePlus

    ... referred Sally and her parents to a local dentist who specialized in jaw disorders. After examining Sally ... having symptoms of a TMJ disorder, let your dentist know. The earlier a TMJ disorder is diagnosed ...

  10. Mental Disorders

    MedlinePlus

    ... disorders Psychotic disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history ... Biological factors can also be part of the cause. A traumatic brain injury can lead to a ...

  11. Eating Disorders

    MedlinePlus

    ... Treatments and Therapies Join a Study Learn More Eating Disorders Definition There is a commonly held view that ... can lead to stroke or heart attack Binge-eating disorder People with binge-eating disorder lose control over ...

  12. Cerebellar Disorders

    MedlinePlus

    ... Problems with the cerebellum include Cancer Genetic disorders Ataxias - failure of muscle control in the arms and legs that result in movement disorders Degeneration - disorders caused by brain cells decreasing in ...

  13. Genetic Disorders

    MedlinePlus

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  14. The Janus faces of acquired angioedema: C1-inhibitor deficiency, lymphoproliferation and autoimmunity.

    PubMed

    Wu, Maddalena Alessandra; Castelli, Roberto

    2016-02-01

    Several clinical and biological features of lymphoproliferative diseases have been associated with an increased risk of developing autoimmune manifestations. Acquired deficiency of C1-inhibitor (C1-INH) (AAE) is a rare syndrome clinically similar to hereditary angioedema (HAE) characterized by local increase in vascular permeability (angioedema) of the skin and the gastrointestinal and oro-pharyngo-laryngeal mucosa. Bradykinin, a potent vasoactive peptide, released from high molecular weight kininogen when it is cleaved by plasma kallikrein (a serine protease controlled by C1-INH), is the mediator of symptoms. In total 46% of AAE patients carry an underlying hematological disorder including monoclonal gammopathy of uncertain significance (MGUS) or B cell malignancies. However, 74% of AAE patients have anti-C1-INH autoantibodies without hematological, clinical or instrumental evidence of lymphoproliferative disease. Unlike HAE patients, AAE patients usually have late-onset symptoms, do not have a family history of angioedema and present variable response to treatment due to the hypercatabolism of C1-INH. Experiments show that C1-INH and/or the classical complement pathway were consumed by the neoplastic lymphatic tissues and/or anti-C1-INH neutralizing autoantibodies. Therapy of AAE follows two directions: 1) prevention/reversal of the symptoms of angioedema; and 2) treatment of the associated disease. Different forms of B cell disorders coexist and/or evolve into each other in AAE and seem to be dominated by an altered control of B cell proliferation, thus AAE represents an example of the strict link between autoimmunity and lymphoproliferation. PMID:26068904

  15. Disrupted lymphocyte homeostasis in hepatitis‐associated acquired aplastic anemia is associated with short telomeres

    PubMed Central

    Babushok, Daria V.; Grignon, Anne‐Laure; Li, Yimei; Atienza, Jamie; Xie, Hongbo M.; Lam, Ho‐Sun; Hartung, Helge; Bessler, Monica

    2016-01-01

    Hepatitis‐associated aplastic anemia (HAA) is a variant of acquired aplastic anemia (AA) in which immune‐mediated bone marrow failure (BMF) develops following an acute episode of seronegative hepatitis. Dyskeratosis congenita (DC) is an inherited BMF syndrome characterized by the presence of short telomeres, mucocutaneous abnormalities, and cancer predisposition. While both conditions may cause BMF and hepatic impairment, therapeutic approaches are distinct, making it imperative to establish the correct diagnosis. In clinical practice, lymphocyte telomere lengths (TL) are used as a first‐line screen to rule out inherited telomeropathies before initiating treatment for AA. To evaluate the reliability of TL in the HAA population, we performed a retrospective analysis of TL in 10 consecutively enrolled HAA patients compared to 19 patients with idiopathic AA (IAA). HAA patients had significantly shorter telomeres than IAA patients (P = 0.009), including four patients with TL at or below the 1st percentile for age‐matched controls. HAA patients had no clinical features of DC and did not carry disease‐causing mutations in known genes associated with inherited telomere disorders. Instead, short TLs were significantly correlated with severe lymphopenia and skewed lymphocyte subsets, features characteristic of HAA. Our results indicate the importance of caution in the interpretation of TL measurements in HAA, because, in this patient population, short telomeres have limited specificity. Am. J. Hematol. 91:243–247, 2016. © 2015 The Authors. American Journal of Hematology Published by Wiley Periodicals, Inc. PMID:26615915

  16. Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas.

    PubMed

    Stypczyńska, Ewa; Placek, Waldemar; Zegarska, Barbara; Czajkowski, Rafał

    2016-06-01

    Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C). Unna-Thost disease is the most common variety of hereditary PPK. Mutations in keratin 1 have been reported in Unna-Thost disease. We report 12 cases in which Unna-Thost disease was diagnosed. Genealogical study demonstrated that the genodermatosis was a familial disease inherited as an autosomal dominant disorder. Dermatological examination revealed yellowish hyperkeratosis on the palms and soles. Oral mucosa, teeth, and nails remained unchanged. Histopathological examination of the biopsy sample taken from the soles of the patients showed orthokeratotic keratosis, hypergranulosis, and acanthosis without epidermolysis. PMID:27477171

  17. Brain disorders and the biological role of music.

    PubMed

    Clark, Camilla N; Downey, Laura E; Warren, Jason D

    2015-03-01

    Despite its evident universality and high social value, the ultimate biological role of music and its connection to brain disorders remain poorly understood. Recent findings from basic neuroscience have shed fresh light on these old problems. New insights provided by clinical neuroscience concerning the effects of brain disorders promise to be particularly valuable in uncovering the underlying cognitive and neural architecture of music and for assessing candidate accounts of the biological role of music. Here we advance a new model of the biological role of music in human evolution and the link to brain disorders, drawing on diverse lines of evidence derived from comparative ethology, cognitive neuropsychology and neuroimaging studies in the normal and the disordered brain. We propose that music evolved from the call signals of our hominid ancestors as a means mentally to rehearse and predict potentially costly, affectively laden social routines in surrogate, coded, low-cost form: essentially, a mechanism for transforming emotional mental states efficiently and adaptively into social signals. This biological role of music has its legacy today in the disordered processing of music and mental states that characterizes certain developmental and acquired clinical syndromes of brain network disintegration. PMID:24847111

  18. Brain disorders and the biological role of music

    PubMed Central

    Clark, Camilla N.; Downey, Laura E.

    2015-01-01

    Despite its evident universality and high social value, the ultimate biological role of music and its connection to brain disorders remain poorly understood. Recent findings from basic neuroscience have shed fresh light on these old problems. New insights provided by clinical neuroscience concerning the effects of brain disorders promise to be particularly valuable in uncovering the underlying cognitive and neural architecture of music and for assessing candidate accounts of the biological role of music. Here we advance a new model of the biological role of music in human evolution and the link to brain disorders, drawing on diverse lines of evidence derived from comparative ethology, cognitive neuropsychology and neuroimaging studies in the normal and the disordered brain. We propose that music evolved from the call signals of our hominid ancestors as a means mentally to rehearse and predict potentially costly, affectively laden social routines in surrogate, coded, low-cost form: essentially, a mechanism for transforming emotional mental states efficiently and adaptively into social signals. This biological role of music has its legacy today in the disordered processing of music and mental states that characterizes certain developmental and acquired clinical syndromes of brain network disintegration. PMID:24847111

  19. Magnetic resonance imaging of acquired cardiac disease.

    PubMed Central

    Carrol, C L; Higgins, C B; Caputo, G R

    1996-01-01

    Over the last 15 years, advances in magnetic resonance imaging techniques have increased the accuracy and applicability of cardiovascular magnetic resonance imaging. These advances have improved the utility of magnetic resonance imaging in evaluating cardiac morphology, blood flow, and myocardial contractility, all significant diagnostic features in the evaluation of the patient with acquired heart disease. Utilization of cardiovascular magnetic resonance imaging has been limited, primarily due to clinical reliance upon nuclear scintigraphy and echocardiography. Recent developments in fast and ultrafast imaging should continue to enhance the significance of magnetic resonance imaging in this field. Widespread use of magnetic resonance imaging in the evaluation of the cardiovascular system will ultimately depend upon its maturation into a comprehensive, noninvasive imaging technique for the varying manifestations of acquired heart disease, including cardiomyopathy, ischemic heart disease, and acquired valvular disease. Images PMID:8792545

  20. Phonological disorder

    MedlinePlus

    Articulation disorder; Developmental articulation disorder; Speech distortion; Sound distortion ... unknown. Close relatives may have had speech and language problems. ... sounds. These changes may include cleft palate and problems ...

  1. Tongue Disorders

    MedlinePlus

    ... more, written in everyday language. Home Mouth and Dental Disorders Lip and Tongue Disorders Burning Mouth Syndrome Causes Symptoms Diagnosis Treatment Lip Changes and Discoloration Lip Inflammation Lip ...

  2. Panic disorder

    MedlinePlus

    ... Anxiety disorder - panic attacks References American Psychiatric Association. Diagnostic and statistical manual of mental disorders . 5th ed. Arlington, VA: American Psychiatric Publishing. 2013. ...

  3. Adaptive and Acquired Resistance to EGFR Inhibitors Converge on the MAPK Pathway

    PubMed Central

    Ma, Pengfei; Fu, Yujie; Chen, Minjiang; Jing, Ying; Wu, Jie; Li, Ke; Shen, Ying; Gao, Jian-Xin; Wang, Mengzhao; Zhao, Xiaojing; Zhuang, Guanglei

    2016-01-01

    Both adaptive and acquired resistance significantly limits the efficacy of the epidermal growth factor receptor (EGFR) kinase inhibitors. However, the distinct or common mechanisms of adaptive and acquired resistance have not been fully characterized. Here, through systematic modeling of erlotinib resistance in lung cancer, we found that feedback reactivation of MAPK signaling following erlotinib treatment, which was dependent on the MET receptor, contributed to the adaptive resistance of EGFR inhibitors. Interestingly, acquired resistance to erlotinib was also associated with the MAPK pathway activation as a result of CRAF or NRAS amplification. Consequently, combined inhibition of EGFR and MAPK impeded the development of both adaptive and acquired resistance. These observations demonstrate that adaptive and acquired resistance to EGFR inhibitors can converge on the same pathway and credential cotargeting EGFR and MAPK as a promising therapeutic approach in EGFR mutant tumors. PMID:27279914

  4. Diagnosis and treatment of chronic acquired demyelinating polyneuropathies.

    PubMed

    Latov, Norman

    2014-08-01

    Chronic neuropathies are operationally classified as primarily demyelinating or axonal, on the basis of electrodiagnostic or pathological criteria. Demyelinating neuropathies are further classified as hereditary or acquired-this distinction is important, because the acquired neuropathies are immune-mediated and, thus, amenable to treatment. The acquired chronic demyelinating neuropathies include chronic inflammatory demyelinating polyneuropathy (CIDP), neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein (MAG; anti-MAG neuropathy), multifocal motor neuropathy (MMN), and POEMS syndrome. They have characteristic--though overlapping--clinical presentations, are mediated by distinct immune mechanisms, and respond to different therapies. CIDP is the default diagnosis if the neuropathy is demyelinating and no other cause is found. Anti-MAG neuropathy is diagnosed on the basis of the presence of anti-MAG antibodies, MMN is characterized by multifocal weakness and motor conduction blocks, and POEMS syndrome is associated with IgG or IgA λ-type monoclonal gammopathy and osteosclerotic myeloma. The correct diagnosis, however, can be difficult to make in patients with atypical or overlapping presentations, or nondefinitive laboratory studies. First-line treatments include intravenous immunoglobulin (IVIg), corticosteroids or plasmapheresis for CIDP; IVIg for MMN; rituximab for anti-MAG neuropathy; and irradiation or chemotherapy for POEMS syndrome. A correct diagnosis is required for choosing the appropriate treatment, with the aim of preventing progressive neuropathy. PMID:24980070

  5. Naturally acquired antibodies against Clostridium perfringens epsilon toxin in goats.

    PubMed

    Veschi, Josir Laine A; Bruzzone, Octavio A; Losada-Eaton, Daniela M; Dutra, Iveraldo S; Fernandez-Miyakawa, Mariano E

    2008-09-15

    Clostridium perfringens type D-producing epsilon toxin is a common cause of death in sheep and goats worldwide. Although anti-epsilon toxin serum antibodies have been detected in healthy non-vaccinated sheep, the information regarding naturally acquired antibodies in ruminants is scanty. The objective of the present report was to characterize the development of naturally acquired antibodies against C. perfringens epsilon toxin in goats. The levels of anti-epsilon toxin antibodies in blood serum of goat kids from two different herds were examined continuously for 14 months. Goats were not vaccinated against any clostridial disease and received heterologous colostrums from cows that were not vaccinated against any clostridial disease. During the survey one of these flocks suffered an unexpectedly severe C. perfringens type D enterotoxemia outbreak. The results showed that natural acquired antibodies against C. perfringens epsilon toxin can appear as early as 6 weeks in young goats and increase with the age without evidence of clinical disease. The enterotoxemia outbreak was coincident with a significant increase in the level of anti-epsilon toxin antibodies. PMID:18538416

  6. Acquired von Willebrand syndrome: diagnostic problems and therapeutic options.

    PubMed

    Eikenboom, Jeroen C J; Tjernberg, Pernilla; Van Marion, Vincent; Heering, Karel J

    2007-01-01

    We present a case of acquired von Willebrand syndrome (AVWS) due to a monoclonal gammopathy of undetermined significance. Initially this case was diagnosed as congenital von Willebrand disease (VWD); however, re-examination of the medical history rendered a congenital bleeding disorder unlikely. A normal plasma von Willebrand factor (VWF) propeptide level and a very short half-life of VWF after a test infusion with factor VIII/VWF concentrate confirmed the diagnosis AVWS. Two major surgical procedures were successfully managed using high-dose intravenous immunoglobulin. The differential diagnosis with congenital VWD and the diagnostic and therapeutic approaches of AVWS are discussed. We conclude that the diagnosis of AVWS relies primarily on clinical suspicion and a careful bleeding history. A correct diagnosis is essential for optimal perioperative management and treatment of bleeding episodes. PMID:16986130

  7. 2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

    PubMed Central

    Liu, Xudong; Malenfant, Patrick; Reesor, Chelsea; Lee, Alana; Hudson, Melissa L; Harvard, Chansonette; Qiao, Ying; Persico, Antonio M; Cohen, Ira L; Chudley, Albert E; Forster-Gibson, Cynthia; Rajcan-Separovic, Evica; Lewis, ME Suzanne; Holden, Jeanette JA

    2011-01-01

    Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15–p16.1 suggest that this region harbors a gene(s) important to the development of autism. We molecularly characterized two such deletions, selecting two genes in this region, exportin 1 (XPO1) and orthodenticle homolog 1 (OTX1) for association studies in three North American cohorts (Autism Spectrum Disorder – Canadian American Research Consortium (ASD–CARC), New York, and Autism Genetic Resource Exchange (AGRE)) and one Italian cohort (Società Italiana per la Ricerca e la Formazione sull'Autismo (SIRFA)) of families with ASD. In XPO1, rs6735330 was associated with autism in all four cohorts (P<0.05), being significant in ASD–CARC cohorts (P-value following false discovery rate correction for multiple testing (PFDR)=1.29 × 10−5), the AGRE cohort (PFDR=0.0011) and the combined families (PFDR=2.34 × 10−9). Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD–CARC cohorts (PFDR=8.65 × 10−7 and 6.07 × 105, respectively), AGRE cohort (PFDR=0.0034 and 0.015, respectively) and the combined families (PFDR=2.34 × 10−9 and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. A significant association (PFDR=2.63 × 10−11) was found for the rs2018650G–rs13000344C haplotype. The above three SNPs were associated with severity of social interaction and verbal communication deficits and repetitive behaviors (P-values <0.01). No additional deletions were identified following screening of 798 ASD individuals. Our results indicate that deletion 2p15–p16.1 is not commonly associated with idiopathic ASD, but represents a novel contiguous gene syndrome associated with a constellation of phenotypic features (autism, intellectual disability, craniofacial/CNS dysmorphology), and that XPO1 and OXT1 may contribute to ASD in 2p15

  8. Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

    PubMed Central

    2014-01-01

    Background To gain more insight into genetic causes of cerebral visual impairment (CVI) in children and to compare ophthalmological findings between genetic and acquired forms of CVI. Methods The clinical data of 309 individuals (mainly children) with CVI, and a visual acuity ≤0.3 were analyzed for etiology and ocular variables. A differentiation was made between acquired and genetic causes. However, in persons with West syndrome or hydrocephalus, it might be impossible to unravel whether CVI is caused by the seizure disorder or increased intracranial pressure or by the underlying disorder (that in itself can be acquired or genetic). In two subgroups, individuals with ‘purely’ acquired CVI and with ‘purely’ genetic CVI, the ocular variables (such as strabismus, pale optic disc and visual field defects) were compared. Results It was possible to identify a putative cause for CVI in 60% (184/309) of the cohort. In the remaining 40% the etiology could not be determined. A ‘purely’ acquired cause was identified in 80 of the patients (26%). West syndrome and/or hydrocephalus was identified in 21 patients (7%), and in 17 patients (6%) both an acquired cause and West and/or hydrocephalus was present. In 66 patients (21%) a genetic diagnosis was obtained, of which 38 (12%) had other possible risk factor (acquired, preterm birth, West syndrome or hydrocephalus), making differentiation between acquired and genetic not possible. In the remaining 28 patients (9%) a ‘purely’ genetic cause was identified. CVI was identified for the first time in several genetic syndromes, such as ATR-X, Mowat-Wilson, and Pitt Hopkins syndrome. In the subgroup with ‘purely’ acquired causes (N = 80) strabismus (88% versus 64%), pale optic discs (65% versus 27%) and visual field defects (72% versus 30%) could be observed more frequent than in the subgroup with ‘purely’ genetic disorders (N = 28). Conclusions We conclude that CVI can be part of a genetic syndrome and

  9. Optimal management of common acquired melanocytic nevi (moles): current perspectives

    PubMed Central

    Sardana, Kabir; Chakravarty, Payal; Goel, Khushbu

    2014-01-01

    Although common acquired melanocytic nevi are largely benign, they are probably one of the most common indications for cosmetic surgery encountered by dermatologists. With recent advances, noninvasive tools can largely determine the potential for malignancy, although they cannot supplant histology. Although surgical shave excision with its myriad modifications has been in vogue for decades, the lack of an adequate histological sample, the largely blind nature of the procedure, and the possibility of recurrence are persisting issues. Pigment-specific lasers were initially used in the Q-switched mode, which was based on the thermal relaxation time of the melanocyte (size 7 μm; 1 μsec), which is not the primary target in melanocytic nevus. The cluster of nevus cells (100 μm) probably lends itself to treatment with a millisecond laser rather than a nanosecond laser. Thus, normal mode pigment-specific lasers and pulsed ablative lasers (CO2/erbium [Er]:yttrium aluminum garnet [YAG]) are more suited to treat acquired melanocytic nevi. The complexities of treating this disorder can be overcome by following a structured approach by using lasers that achieve the appropriate depth to treat the three subtypes of nevi: junctional, compound, and dermal. Thus, junctional nevi respond to Q-switched/normal mode pigment lasers, where for the compound and dermal nevi, pulsed ablative laser (CO2/Er:YAG) may be needed. If surgical excision is employed, a wide margin and proper depth must be ensured, which is skill dependent. A lifelong follow-up for recurrence and melanoma is warranted in predisposed individuals, although melanoma is decidedly uncommon in most acquired melanocytic nevi, even though histological markers may be seen on evaluation. PMID:24672253

  10. Optimal management of common acquired melanocytic nevi (moles): current perspectives.

    PubMed

    Sardana, Kabir; Chakravarty, Payal; Goel, Khushbu

    2014-01-01

    Although common acquired melanocytic nevi are largely benign, they are probably one of the most common indications for cosmetic surgery encountered by dermatologists. With recent advances, noninvasive tools can largely determine the potential for malignancy, although they cannot supplant histology. Although surgical shave excision with its myriad modifications has been in vogue for decades, the lack of an adequate histological sample, the largely blind nature of the procedure, and the possibility of recurrence are persisting issues. Pigment-specific lasers were initially used in the Q-switched mode, which was based on the thermal relaxation time of the melanocyte (size 7 μm; 1 μsec), which is not the primary target in melanocytic nevus. The cluster of nevus cells (100 μm) probably lends itself to treatment with a millisecond laser rather than a nanosecond laser. Thus, normal mode pigment-specific lasers and pulsed ablative lasers (CO2/erbium [Er]:yttrium aluminum garnet [YAG]) are more suited to treat acquired melanocytic nevi. The complexities of treating this disorder can be overcome by following a structured approach by using lasers that achieve the appropriate depth to treat the three subtypes of nevi: junctional, compound, and dermal. Thus, junctional nevi respond to Q-switched/normal mode pigment lasers, where for the compound and dermal nevi, pulsed ablative laser (CO2/Er:YAG) may be needed. If surgical excision is employed, a wide margin and proper depth must be ensured, which is skill dependent. A lifelong follow-up for recurrence and melanoma is warranted in predisposed individuals, although melanoma is decidedly uncommon in most acquired melanocytic nevi, even though histological markers may be seen on evaluation. PMID:24672253

  11. Association of acquired von Willebrand syndrome with AL amyloidosis.

    PubMed

    Kos, Cynthia A; Ward, Jennifer E; Malek, Karim; Sanchorawala, Vaishali; Wright, Daniel G; O'Hara, Carl; Connors, Lawreen; Skinner, Martha; Seldin, David C

    2007-05-01

    Acquired loss of functional von Willebrand factor (VWF) has been termed the acquired von Willebrand syndrome (AVWS). AVWS is a rare adult-onset bleeding diathesis that is clinically similar to congenital von Willebrand disease (VWD), and occurs with a variety of autoimmune, lymphoproliferative, or myeloproliferative disorders. We have identified four patients with AVWS in association with immunoglobulin light chain (AL) amyloidosis. These patients, lacking any pre-existing or family history of abnormal bleeding, developed cutaneous, mucosal, or gastrointestinal bleeding in the course of their disease without deficiency of clotting factor X or other factors; the activated partial thromboplastin time (aPTT) was prolonged in three out of the four cases. Despite normal VWF antigen levels, VWF ristocetin cofactor activity (VWF:RCo) was low. Electrophoresis patterns of high molecular weight (HMW) VWF multimers were abnormal in two of the four cases. Two of the patients were treated with high-dose intravenous melphalan followed by autologous stem cell transplantation (HDM/SCT) and achieved hematologic remission. In these two patients, the bleeding diathesis improved and the coagulation parameters normalized, confirming a causal relationship between the plasma cell dyscrasia and the AVWS. AVWS should be considered in AL amyloidosis patients with hemorrhagic diatheses and normal clotting factor levels. PMID:17205535

  12. Panic Disorder among Adults

    MedlinePlus

    ... Hyperactivity Disorder Among Children Autism Spectrum Disorder (ASD) Eating Disorders Among Adults - Anorexia Nervosa Eating Disorders Among Adults - Binge Eating Disorder Eating Disorders Among ...

  13. Any Personality Disorder

    MedlinePlus

    ... Hyperactivity Disorder Among Children Autism Spectrum Disorder (ASD) Eating Disorders Among Adults - Anorexia Nervosa Eating Disorders Among Adults - Binge Eating Disorder Eating Disorders Among ...

  14. Antisocial Personality Disorder

    MedlinePlus

    ... Hyperactivity Disorder Among Children Autism Spectrum Disorder (ASD) Eating Disorders Among Adults - Anorexia Nervosa Eating Disorders Among Adults - Binge Eating Disorder Eating Disorders Among ...

  15. Bipolar Disorder Among Adults

    MedlinePlus

    ... Hyperactivity Disorder Among Children Autism Spectrum Disorder (ASD) Eating Disorders Among Adults - Anorexia Nervosa Eating Disorders Among Adults - Binge Eating Disorder Eating Disorders Among ...

  16. Borderline Personality Disorder

    MedlinePlus

    ... Hyperactivity Disorder Among Children Autism Spectrum Disorder (ASD) Eating Disorders Among Adults - Anorexia Nervosa Eating Disorders Among Adults - Binge Eating Disorder Eating Disorders Among ...

  17. Acquiring a Second Language for School.

    ERIC Educational Resources Information Center

    Collier, Virginia P.

    1995-01-01

    This report offers a conceptual model for use with language minority children who are entering a new school when they must acquire the language of the majority student population. The model has four development components or processes: sociocultural, linguistic, academic, and cognitive. These four components are described in detail. Research is…

  18. 7 CFR 989.17 - Acquire.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 7 Agriculture 8 2013-01-01 2013-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (MARKETING AGREEMENTS AND ORDERS; FRUITS, VEGETABLES, NUTS), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN...

  19. 7 CFR 989.17 - Acquire.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 7 Agriculture 8 2014-01-01 2014-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (MARKETING AGREEMENTS AND ORDERS; FRUITS, VEGETABLES, NUTS), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN...

  20. 7 CFR 989.17 - Acquire.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 8 2010-01-01 2010-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN...

  1. 7 CFR 989.17 - Acquire.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 7 Agriculture 8 2011-01-01 2011-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN...

  2. Eye Movement Correlates of Acquired Central Dyslexia

    ERIC Educational Resources Information Center

    Schattka, Kerstin I.; Radach, Ralph; Huber, Walter

    2010-01-01

    Based on recent progress in theory and measurement techniques, the analysis of eye movements has become one of the major methodological tools in experimental reading research. Our work uses this approach to advance the understanding of impaired information processing in acquired central dyslexia of stroke patients with aphasia. Up to now there has…

  3. How Did Light Acquire a Velocity?

    ERIC Educational Resources Information Center

    Lauginie, Pierre

    2013-01-01

    We discuss how light acquired a velocity through history, from the ancient Greeks to the early modern era. Combining abstract debates, models of light, practical needs, planned research and chance, this history illustrates several key points that should be brought out in science education.

  4. Group Treatment in Acquired Brain Injury Rehabilitation

    ERIC Educational Resources Information Center

    Bertisch, Hilary; Rath, Joseph F.; Langenbahn, Donna M.; Sherr, Rose Lynn; Diller, Leonard

    2011-01-01

    The current article describes critical issues in adapting traditional group-treatment methods for working with individuals with reduced cognitive capacity secondary to acquired brain injury. Using the classification system based on functional ability developed at the NYU Rusk Institute of Rehabilitation Medicine (RIRM), we delineate the cognitive…

  5. 7 CFR 989.17 - Acquire.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN IN... possession of raisins by a handler at his packing or processing plant or at any other established receiving station operated by him: Provided, That a handler shall not be deemed to acquire any raisins...

  6. 7 CFR 926.10 - Acquire.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 8 2010-01-01 2010-01-01 false Acquire. 926.10 Section 926.10 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE DATA COLLECTION, REPORTING AND...

  7. Acquiring Financial Management Software: A Prototyping Approach.

    ERIC Educational Resources Information Center

    Wilson, John H.

    1990-01-01

    When the Smithsonian Institution recently acquired a new financial management system, the concept of prototyping was used throughout the process, but in a broader sense than in software development. It was used to refine requirements, establish software management techniques, test a logistical system, and implement and apply the package. (MSE)

  8. Neural Correlates of Acquired Color Category Effects

    ERIC Educational Resources Information Center

    Clifford, Alexandra; Franklin, Anna; Holmes, Amanda; Drivonikou, Vicky G.; Ozgen, Emre; Davies, Ian R. L.

    2012-01-01

    Category training can induce category effects, whereby color discrimination of stimuli spanning a newly learned category boundary is enhanced relative to equivalently spaced stimuli from within the newly learned category (e.g., categorical perception). However, the underlying mechanisms of these acquired category effects are not fully understood.…

  9. Acquired structural defects of the hair.

    PubMed

    Chetty, G N; Kamalam, A; Thambiah, A S

    1981-03-01

    Acquired hair shaft abnormalities resembling genetic trichorrhexis nodosa were seen in two patients. Selenium shampoo and bacterial infection with trichomycosis axillaris may have been the contributing factors. There is a possibility that strongyloides larvae caused trichonodosis in one patient. PMID:7216593

  10. Community-acquired Acinetobacter meningitis in adults.

    PubMed

    Chang, W N; Lu, C H; Huang, C R; Chuang, Y C

    2000-01-01

    Community-acquired Acinetobacter meningitis in adults is an extremely rare infection of the central nervous system (CNS). Here we report one adult case of this rare CNS infection and review the clinical data of another seven cases reported in the English language literature. In total, eight patients (six men and two women) aged between 19 and 63 years were studied. The causative pathogen in our patient was Acinetobacter baumannii; in the other reported cases they were most likely Acinetobacter Iwoffii, Acinetobacter johnsonii, Acinetobacter junii, a genomic species 3 or 6. No underlying disease was found in seven of the eight cases and six of the eight patients acquired the infections before the age of 30 years. Fever and consciousness disturbance were the most common clinical manifestations. Waterhouse-Friderichsen syndrome (WFS) was found in two cases. Unlike the Acinetobacter strains found in nosocomial infections, the strain of Acinetobacter meningitis in the community-acquired case did not show multiple antibiotic resistance. Most adult patients with community-acquired Acinetobacter meningitis can be saved by timely therapy with appropriate antibiotics before deterioration of the systemic condition and impairment of consciousness. PMID:11139162

  11. Interviewing Children with Acquired Brain Injury (ABI)

    ERIC Educational Resources Information Center

    Boylan, Anne-Marie; Linden, Mark; Alderdice, Fiona

    2009-01-01

    Research into the lives of children with acquired brain injury (ABI) often neglects to incorporate children as participants, preferring to obtain the opinions of the adult carer (e.g. McKinlay et al., 2002). There has been a concerted attempt to move away from this position by those working in children's research with current etiquette…

  12. Support Network Responses to Acquired Brain Injury

    ERIC Educational Resources Information Center

    Chleboun, Steffany; Hux, Karen

    2011-01-01

    Acquired brain injury (ABI) affects social relationships; however, the ways social and support networks change and evolve as a result of brain injury is not well understood. This study explored ways in which survivors of ABI and members of their support networks perceive relationship changes as recovery extends into the long-term stage. Two…

  13. Personality Disorders

    MedlinePlus

    ... this page You are here Home » Personality Disorder Personality Disorder What is “Personality?” Personality refers to a distinctive set of traits, ... family, friends, and co-workers. What is a Personality Disorder? Those who struggle with a personality disorder ...

  14. Update on laboratory tests for the diagnosis and differentiation of hereditary angioedema and acquired angioedema.

    PubMed

    Frazer-Abel, Ashley; Giclas, Patricia C

    2011-01-01

    The importance of laboratory testing in the diagnosis of hereditary angioedema (HAE) has increased with the advent of new treatment options in recent years. It has been 50 years since HAE was linked to a decrease of C1INH (the inhibitor of complement enzyme, C1 esterase), a link that provided for the first laboratory test available for this disorder. HAE is subdivided into types that can be differentiated only by laboratory testing. The Type I form is characterized by low levels and function of C1INH in the circulation. The Type II form is characterized by normal levels of C1INH, but low function. Sample collection and handling is critical for the functional assays. The serum samples for the functional analysis must be collected, separated, and frozen at less than -60°C within 2 hours of the blood draw. Additionally some suspected Type II patients may benefit from looking closely at what method is used for the functional testing. The acquired forms of angioedema (AAE) can benefit from the same clinical testing, because most are ultimately due to decreased C1INH. Measurement of C1q levels and testing for anti-C1INH autoantibodies can help differentiate AAE from HAE. Diagnostic testing for the third hereditary form, alternately called estrogen-dependent HAE, HAE with Normal C1INH or HAE Type III, still presents challenges, and definitive testing may have to wait until there is a more complete understanding of this mixed group of patients. The next steps will include genetic analysis of C1INH and other proteins involved in HAE. PMID:22195757

  15. Visuographemic alexia: a new form of a peripheral acquired dyslexia.

    PubMed

    Dalmás, J F; Dansilio, S

    2000-10-15

    We report a single-case study of peripherally acquired dyslexia that meets the clinical criteria of "alexia without agraphia." The patient, AA, has a large infarct involving the left posterior cerebral artery. The most striking feature is a severe impairment in recognizing single visually presented letters that precludes explicit or implicit access to reading, even in a letter-by-letter fashion. AA can, however, differentiate letters from similar nonsense characters and digits, and he is also able to identify alphanumeric signs when the visual channel is bypassed (through somesthesic or kinesthesic presentation). Spelling tasks are also well performed. Since there is a breakdown in mapping a visually presented letter to its abstract graphemic representation, we propose the term "visuographemic alexia" for this kind of reading disorder. The pattern of deficits is interpreted following theoretical models previously developed in cognitive neuropsychology. An alexia for arabic numerals with preserved comprehension lends additional support for the crucial processing of different notational systems (e.g., phonographic vs logographic). More general perceptive disorders do not seem to account for these patterns; they are material-specific. Finally, we attempt to specify functional correlations with the implied neural networks. PMID:11023635

  16. Employment Outcomes for Persons with Acquired Brain Injury. Report from the Institute on Rehabilitation Issues Study Group (20th, New Orleans, Louisiana, November 1993).

    ERIC Educational Resources Information Center

    Corthell, David W., Ed.

    This document provides a resource and problem-solving guide for vocational rehabilitation counselors serving people with brain injuries acquired through trauma or other circumstances. An introduction defines acquired brain injury, characterizes the uniqueness of people with acquired brain injury, and describes community resources. Chapter 2,…

  17. Skin disorders at sea.

    PubMed

    Lucas, Ray; Boniface, Keith; Hite, Michael

    2010-01-01

    The purpose of this study is to characterize the types of skin disorders occurring at sea requiring acute treatment. The case logs of a tele-medicine service for US flagged ships at sea were reviewed from March 1, 2006 until March 1, 2009. Of 1844 total cases, 10% (n = 183) were for skin disorders. Sixty-eight percent (n = 125) were infections, 14% (n = 25) were inflammatory, 7% (n = 13) were environmental, and 11% (n = 20) were non-specific rashes. Cutaneous abscesses and cellulitis (n = 84) were the most common acute skin disorders encountered. In some cases (n = 81), still digital photographs aided in the diagnosis. PMID:20496321

  18. Disorders of Carbohydrate Metabolism

    MedlinePlus

    ... Metabolic Disorders Disorders of Carbohydrate Metabolism Disorders of Amino Acid Metabolism Disorders of Lipid Metabolism Carbohydrates are sugars. ... Metabolic Disorders Disorders of Carbohydrate Metabolism Disorders of Amino Acid Metabolism Disorders of Lipid Metabolism NOTE: This is ...

  19. Current treatment options of acquired flatfoot.

    PubMed

    Lesić, Aleksandar R; Atkinson, Henry Dushan E; Zagorac, Slavisa G; Bumbasirević, Marko

    2013-01-01

    Symptomatic acquired flatfoot is an important orthopaedic problem, due to progressive loss of whole foot function and the increasing problem of patient disability. It is a complex entity, involving the tibialis posterior tendon, ankle joint, hindfoot and midfoot. In most cases the posterior tibial tendon (PTT) is the root cause of acquired flat foot, but there are other contributors and many different factors have an influence. The clinical picture varies depending on the stage of the deformity, as well as the treatment approach. Initially soft tissue procedures, synoviectomy and augmentation of the PTT are advised. In stage 2, lateral column lengthening and calcaneal osteotomy, with soft tissue - tendon transfers (TA, FHL, FDL) are recommended. In stage 3 subtalar, double or triplearthodesis is preferable, while in stage 4 pantalar fusion is indicated. This article elaborates on the etiology, the clinical picture, diagnosis and treatment modalities. PMID:24669559

  20. Acquired Cystic Fibrosis Transmembrane Conductance Regulator Deficiency.

    PubMed

    Cho, Do-Yeon; Woodworth, Bradford A

    2016-01-01

    In the genetic airway disease cystic fibrosis (CF), deficiency or dysfunction of the cystic fibrosis membrane conductance regulator (CFTR) alters anion transport in respiratory epithelium and consequently disrupts mucociliary clearance. An enriched understanding of the role of CFTR in the maintenance of normal epithelial function has revealed that mild and variable CFTR mutations play a causative role in a number of diseases not classically associated with CF. Furthermore, recent evidence indicates that acquired defects in wild-type CFTR protein processing, endocytic recycling and function can contribute to the pathogenesis of airway diseases, such as chronic obstructive pulmonary disease. In this chapter, we discuss emerging findings implicating acquired CFTR dysfunction in the pathogenesis of chronic rhinosinusitis and propose a new and leading edge approach to future CRS therapy using CFTR potentiators. PMID:27466849

  1. Earth Knowledge Acquired by Middle School Students

    NASA Technical Reports Server (NTRS)

    Ride, Sally

    2008-01-01

    Earth Knowledge Acquired by Middle School Students (EarthKAM), an education activity, allows middle school students to program a digital camera on board the International Space Station to photograph a variety of geographical targets for study in the classroom. Photos are made available on the web for viewing and study by participating schools around the world. Educators use the images for projects involving Earth Science, geography, physics, and social science.

  2. Intrinsic and acquired resistance mechanisms in enterococcus

    PubMed Central

    Hollenbeck, Brian L.; Rice, Louis B.

    2012-01-01

    Enterococci have the potential for resistance to virtually all clinically useful antibiotics. Their emergence as important nosocomial pathogens has coincided with increased expression of antimicrobial resistance by members of the genus. The mechanisms underlying antibiotic resistance in enterococci may be intrinsic to the species or acquired through mutation of intrinsic genes or horizontal exchange of genetic material encoding resistance determinants. This paper reviews the antibiotic resistance mechanisms in Enterococcus faecium and Enterococcus faecalis and discusses treatment options. PMID:23076243

  3. [Pharmacogenetics of community-acquired pneumonia].

    PubMed

    Suleĭmanov, S Sh; Molchanova, O V; Kirpichnikova, N V; Sukhotina, N V; Gorbach, A A

    2010-01-01

    The rate of acetylation of xenobiotics affects the course and prognosis of infectious diseases. The efficacy of antibiotic therapy of community-acquired pneumonia in RA-patients is lower than that in LA-ones. In order to ensure the best antimicrobial effect on the onset of the disease it is required to use regimens with the maximum permissible dose of antibacterial drugs in the regions where the rapid type prevails. PMID:21400754

  4. Domestically acquired fascioliasis in northern California.

    PubMed

    Weisenberg, Scott A; Perlada, David E

    2013-09-01

    Two cases of domestically acquired fascioliasis are reported. Patient One was a 63-year-old male who developed a febrile illness 2 months after eating watercress in Marin County. Patient Two was a 38-year-old male who had eaten watercress with Patient One, and also developed a febrile illness. Both patients had eosinophilia and liver lesions on imaging. Diagnosis was made by serology and treatment was with triclabendazole. PMID:23836562

  5. Domestically Acquired Fascioliasis in Northern California

    PubMed Central

    Weisenberg, Scott A.; Perlada, David E.

    2013-01-01

    Two cases of domestically acquired fascioliasis are reported. Patient One was a 63-year-old male who developed a febrile illness 2 months after eating watercress in Marin County. Patient Two was a 38-year-old male who had eaten watercress with Patient One, and also developed a febrile illness. Both patients had eosinophilia and liver lesions on imaging. Diagnosis was made by serology and treatment was with triclabendazole. PMID:23836562

  6. Acquired protein energy malnutrition in glutaric acidemia.

    PubMed

    Ma, Liqiao; Savory, Stephanie; Agim, Nnenna G

    2013-01-01

    We report a case of acquired protein energy malnutrition with associated zinc deficiency in an 18-month-old boy with type 1 glutaric acidemia. Physical examination findings included generalized nonpitting edema, widespread desquamative plaques, and sparse hair with a reddish tinge. Laboratory abnormalities included low levels of zinc, albumin, alkaline phosphatase, and iron. A review of skin manifestations of nutritional deficiencies, specifically kwashiorkor, is presented, as well as the relatively new entity called acrodermatitis dysmetabolica. PMID:23330977

  7. Acquired Antibiotic Resistance Genes: An Overview

    PubMed Central

    van Hoek, Angela H. A. M.; Mevius, Dik; Guerra, Beatriz; Mullany, Peter; Roberts, Adam Paul; Aarts, Henk J. M.

    2011-01-01

    In this review an overview is given on antibiotic resistance (AR) mechanisms with special attentions to the AR genes described so far preceded by a short introduction on the discovery and mode of action of the different classes of antibiotics. As this review is only dealing with acquired resistance, attention is also paid to mobile genetic elements such as plasmids, transposons, and integrons, which are associated with AR genes, and involved in the dispersal of antimicrobial determinants between different bacteria. PMID:22046172

  8. System Acquires Data On Reactivities Of Foams

    NASA Technical Reports Server (NTRS)

    Walls, Joe T.

    1994-01-01

    Data-acquisition and -plotting system, called DAPS(TM), developed enabling accurate and objective determination of physical properties related to reactivities of polyurethane and polyisocyanurate foams. Automated, computer-controlled test apparatus that acquires data on rates of rise, rise profiles, exothermic temperatures, and internal pressures of foams prepared from both manual and machine-mixed batches. Data used to determine minute differences between reaction kinetics and exothermic profiles of foam formulations, properties of end products which are statistically undifferentiated.

  9. Acquired resistance to immunotherapy and future challenges.

    PubMed

    Restifo, Nicholas P; Smyth, Mark J; Snyder, Alexandra

    2016-02-01

    Advances in immunotherapy have resulted in remarkable clinical responses in some patients. However, one of the biggest challenges in cancer therapeutics is the development of resistant disease and disease progression on or after therapy. Given that many patients have now received various types of immunotherapy, we asked three scientists to give their views on the current evidence for whether acquired resistance to immunotherapy exists in patients and the future challenges posed by immunotherapy. PMID:26822578

  10. Autoimmune autonomic disorders.

    PubMed

    Mckeon, Andrew; Benarroch, Eduardo E

    2016-01-01

    Autoimmune autonomic disorders occur because of an immune response directed against sympathetic, parasympathetic, and enteric ganglia, autonomic nerves, or central autonomic pathways. In general, peripheral autoimmune disorders manifest with either generalized or restricted autonomic failure, whereas central autoimmune disorders manifest primarily with autonomic hyperactivity. Some autonomic disorders are generalized, and others are limited in their anatomic extent, e.g., isolated gastrointestinal dysmotility. Historically, these disorders were poorly recognized, and thought to be neurodegenerative. Over the last 20 years a number of autoantibody biomarkers have been discovered that have enabled the identification of certain patients as having an autoimmune basis for either autonomic failure or hyperactivity. Peripheral autoimmune autonomic disorders include autoimmune autonomic ganglionopathy (AAG), paraneoplastic autonomic neuropathy, and acute autonomic and sensory neuropathy. AAG manifests with acute or subacute onset of generalized or selective autonomic failure. Antibody targeting the α3 subunit of the ganglionic-type nicotinic acetylcholine receptor (α3gAChR) is detected in approximately 50% of cases of AAG. Some other disorders are characterized immunologically by paraneoplastic antibodies with a high positive predictive value for cancer, such as antineuronal nuclear antibody, type 1 (ANNA-1: anti-Hu); others still are seronegative. Recognition of an autoimmune basis for autonomic disorders is important, as their manifestations are disabling, may reflect an underlying neoplasm, and have the potential to improve with a combination of symptomatic and immune therapies. PMID:27112689

  11. Immunological characterization and transcription profiling of peripheral blood (PB) monocytes in children with autism spectrum disorders (ASD) and specific polysaccharide antibody deficiency (SPAD): case study

    PubMed Central

    2012-01-01

    Introduction There exists a small subset of children with autism spectrum disorders (ASD) characterized by fluctuating behavioral symptoms and cognitive skills following immune insults. Some of these children also exhibit specific polysaccharide antibody deficiency (SPAD), resulting in frequent infection caused by encapsulated organisms, and they often require supplemental intravenous immunoglobulin (IVIG) (ASD/SPAD). This study assessed whether these ASD/SPAD children have distinct immunological findings in comparison with ASD/non-SPAD or non-ASD/SPAD children. Case description We describe 8 ASD/SPAD children with worsening behavioral symptoms/cognitive skills that are triggered by immune insults. These ASD/SPAD children exhibited delayed type food allergy (5/8), treatment-resistant seizure disorders (4/8), and chronic gastrointestinal (GI) symptoms (5/8) at high frequencies. Control subjects included ASD children without SPAD (N = 39), normal controls (N = 37), and non-ASD children with SPAD (N = 12). Discussion and Evaluation We assessed their innate and adaptive immune responses, by measuring the production of pro-inflammatory and counter-regulatory cytokines by peripheral blood mononuclear cells (PBMCs) in responses to agonists of toll like receptors (TLR), stimuli of innate immunity, and T cell stimulants. Transcription profiling of PB monocytes was also assessed. ASD/SPAD PBMCs produced less proinflammatory cytokines with agonists of TLR7/8 (IL-6, IL-23), TLR2/6 (IL-6), TLR4 (IL-12p40), and without stimuli (IL-1ß, IL-6, and TNF-α) than normal controls. In addition, cytokine production of ASD/SPAD PBMCs in response to T cell mitogens (IFN-γ, IL-17, and IL-12p40) and candida antigen (Ag) (IL-10, IL-12p40) were less than normal controls. ASD/non-SPAD PBMDs revealed similar results as normal controls, while non-ASD/SPAD PBMCs revealed lower production of IL-6, IL-10 and IL-23 with a TLR4 agonist. Only common features observed between ASD/SPAD and non

  12. Acquired von Willebrand's disease associated with gastrointestinal angiodysplasia: a case report.

    PubMed

    Gupta, P K; Kannan, M; Chatterjee, T; Dixit, A; Mahapatra, M; Choudhry, V P; Saxena, R

    2006-07-01

    Acquired von Willebrand syndrome (AVWS) is a rare and probably underestimated bleeding disorder which mimics most of the clinical symptoms and laboratory features of hereditary von Willebrand disease (VWD) in patients devoid of both personal and family history of bleeding diathesis. In this study, we present a case of 55 yrs male patient, presented with gastrointestinal bleeds since three years, diagnosed to have AVWS with inhibitors. From this study it is concluded that AVWS is rare and it is important to diagnose this bleeding disorder so that appropriate treatment with plasmapheresis and IV:Ig can effectively correct the haemostatic defect and manage severe bleeding in these patients. PMID:16834752

  13. Thermal Characterization, Crystal Field Analysis and In-Band Pumped Laser Performance of Er Doped NaY(WO4)2 Disordered Laser Crystals

    PubMed Central

    Serrano, María Dolores; Cascales, Concepción; Han, Xiumei; Zaldo, Carlos; Jezowski, Andrzej; Stachowiak, Piotr; Ter-Gabrielyan, Nikolay; Fromzel, Viktor; Dubinskii, Mark

    2013-01-01

    Undoped and Er-doped NaY(WO4)2 disordered single crystals have been grown by the Czochralski technique. The specific heat and thermal conductivity (κ) of these crystals have been characterized from T = 4 K to 700 K and 360 K, respectively. It is shown that κ exhibits anisotropy characteristic of single crystals as well as a κ(T) behavior observed in glasses, with a saturation mean free phonon path of 3.6 Å and 4.5 Å for propagation along a and c crystal axes, respectively. The relative energy positions and irreducible representations of Stark Er3+ levels up to 4G7/2 multiplet have been determined by the combination of experimental low (<10 K) temperature optical absorption and photoluminescence measurements and simulations with a single-electron Hamiltonian including both free-ion and crystal field interactions. Absorption, emission and gain cross sections of the 4I13/2↔4I15/2 laser related transition have been determined at 77 K. The 4I13/2 Er3+ lifetime (τ) was measured in the temperature range of 77–300 K, and was found to change from τ (77K) ≈ 4.5 ms to τ (300K) ≈ 3.5 ms. Laser operation is demonstrated at 77 K and 300 K by resonantly pumping the 4I13/2 multiplet at λ≈1500 nm with a broadband (FWHM≈20 nm) diode laser source perfectly matching the 77 K crystal 4I15/2 → 4I13/2 absorption profile. At 77 K as much as 5.5 W of output power were obtained in π-polarized configuration with a slope efficiency versus absorbed pump power of 57%, the free running laser wavelength in air was λ≈1611 nm with the laser output bandwidth of 3.5 nm. The laser emission was tunable over 30.7 nm, from 1590.7 nm to 1621.4 nm, for the same π-polarized configuration. PMID:23555664

  14. Bipolar Disorder

    MedlinePlus

    Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go ... The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. ...

  15. Muscle disorder

    MedlinePlus

    Blood tests sometimes show abnormally high muscle enzymes. If a muscle disorder might also affect other family members, genetic testing may be done. When someone has symptoms and signs of a muscle disorder, tests such as an electromyogram , ...

  16. Learning Disorders

    MedlinePlus

    ... new information. People with learning disorders may have problems Listening or paying attention Speaking Reading or writing ... around them can make them less of a problem. NIH: National Institute of Neurological Disorders and Stroke

  17. Swallowing Disorders

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Swallowing Disorders Information Page Synonym(s): Dysphagia Table of Contents ( ... Clinical Trials Organizations Publicaciones en Español What are Swallowing Disorders? Having trouble swallowing (dysphagia) is a symptom ...

  18. Rumination disorder

    MedlinePlus

    ... Katzman DK, Kearney SA, Becker AE. Feeding and eating disorders. In: Feldman M, Friedman LS, Brandt LJ, eds. ... A.M. Editorial team. Related MedlinePlus Health Topics Eating Disorders Browse the Encyclopedia A.D.A.M., Inc. ...

  19. Eating Disorders

    MedlinePlus

    Eating disorders are serious behavior problems. They can include severe overeating or not consuming enough food to stay ... concern about your shape or weight. Types of eating disorders include Anorexia nervosa, in which you become too ...

  20. Adjustment disorder

    MedlinePlus

    American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington, Va: American Psychiatric Publishing. 2013. Powell AD. Grief, bereavement, and adjustment disorders. In: Stern TA, Rosenbaum ...

  1. Mood Disorders

    MedlinePlus

    ... include depression and bipolar disorder (also called manic depression). Mood disorders can increase a person's risk for heart disease, diabetes, and other diseases. Treatments include medication, psychotherapy, or a combination of both. With treatment, most ...

  2. Movement Disorders

    MedlinePlus

    ... t want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia ... movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. Nerve diseases ...

  3. Muscle Disorders

    MedlinePlus

    ... cause weakness, pain or even paralysis. Causes of muscle disorders include Injury or overuse, such as sprains or strains, cramps or tendinitis A genetic disorder, such as muscular dystrophy Some ... muscles Infections Certain medicines Sometimes the cause is not ...

  4. Eating disorders.

    PubMed

    Erzegovesi, Stefano; Bellodi, Laura

    2016-08-01

    Twenty years have passed from the International Classification of Diseases, Tenth Revision (ICD-10) to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and, in the meanwhile, a lot of research data about eating disorders has been published. This article reviews the main modifications to the classification of eating disorders reported in the "Feeding and Eating Disorders" chapter of the DSM-5, and compares them with the ICD-10 diagnostic guidelines. Particularly, we will show that DSM-5 criteria widened the diagnoses of anorexia and bulimia nervosa to less severe forms (so decreasing the frequency of Eating Disorders, Not Otherwise Specified (EDNOS) diagnoses), introduced the new category of Binge Eating Disorder, and incorporated several feeding disorders that were first diagnosed in infancy, childhood, or adolescence. On the whole, the DSM-5 revision should allow the clinician to make more reliable and timely diagnoses for eating disorders. PMID:27319605

  5. Personality disorders

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000939.htm Personality disorders To use the sharing features on this page, please enable JavaScript. Personality disorders are a group of mental conditions in ...

  6. Personality disorders

    MedlinePlus

    Personality disorders are a group of mental conditions in which a person has a long-term pattern ... Causes of personality disorders are unknown. Genetic and environmental factors are thought to play a role. Mental health professionals categorize these ...

  7. Conversion disorder

    MedlinePlus

    ... from reality that is not on purpose) A personality disorder (inability to manage feelings and behaviors that ... MA, Smallwood P, Groves JE, Rivas-Vazquez RA. Personality and personality disorders. In: Stern TA, Rosenbaum JF, ...

  8. Schizoaffective disorder

    MedlinePlus

    ... disorder is thought to be less common than schizophrenia and mood disorders. Women may have the condition ... Complications are similar to those for schizophrenia and major mood ... therapy Problems due to manic behavior (for example, spending ...

  9. Metabolic Disorders

    MedlinePlus

    ... as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body ... that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or ...

  10. Personality Disorders

    MedlinePlus

    Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and ...

  11. Personality Disorders

    MedlinePlus

    Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors that ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and problems. ...

  12. Sleep Disorders

    MedlinePlus

    ... have had enough sleep? You might have a sleep disorder. The most common kinds are Insomnia - a hard ... problems called parasomnias. There are treatments for most sleep disorders. Sometimes just having regular sleep habits can help.

  13. Mathematics disorder

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001534.htm Mathematics disorder To use the sharing features on this page, please enable JavaScript. Mathematics disorder is a condition in which a child's ...

  14. Tooth Disorders

    MedlinePlus

    ... These include eating, speaking and even smiling. But tooth disorders are nothing to smile about. They include problems ... with your teeth. Fortunately, you can prevent many tooth disorders by taking care of your teeth and keeping ...

  15. Eating Disorders and the Family

    PubMed Central

    Burstein, Sam; Sananes, Renee

    1991-01-01

    Eating disorders are complex, often chronic, biopsychosocial disorders characterized by a pursuit for control which, in interaction with familial factors, results in disturbed patterns of relating to food and its meaning. Overt and covert resistance to intervention at the family level can reflect family dynamics but can be mitigated by engaging families of adolescents with eating disorders, by using multidisciplinary teams, and by hospitalization. PMID:21228994

  16. Acquired von Willebrand syndrome: data from an international registry.

    PubMed

    Federici, A B; Rand, J H; Bucciarelli, P; Budde, U; van Genderen, P J; Mohri, H; Meyer, D; Rodeghiero, F; Sadler, J E

    2000-08-01

    The acquired von Willebrand syndrome (AvWS) is a rare bleeding disorder with laboratory findings similar to those of congenital von Willebrand disease (vWD). Despite the numerous cases reported in the literature until 1999 (n = 266), large studies on AvWS are not available. Moreover, diagnosis of AvWS has been difficult and treatment empirical. These considerations prompted us to organize an international registry. A questionnaire, devised to collect specific information on AvWS, was sent to all the members of the International Society on Thrombosis and Haemostasis (ISTH), who were invited to respond if they had diagnosed cases with the AvWS cases. 156 members answered the questionnaire and 54 of them sent information on 211 AvWS cases from 50 centers. Data were compared with those already published in the literature and 25 cases already described or not correctly diagnosed were excluded. The 186 AvWS cases that qualified for the registry were associated with lymphoproliferative (48%) and myeloproliferative disorders (15%), neoplasia (5%), immunological (2%), cardiovascular (21%) and miscellaneous disorders (9%). Ristocetin cofactor activity (vWF:RCo) or collagen binding activity (vWF:CBA) were usually low in AvWS (median values 20 U/dL, range 3-150), while factor VIII coagulant activity was sometimes normal (median 25 U/dL, range 3-191). FVIII/vWF inhibiting activities were present in only a minority of cases (16%). Bleeding episodes in AvWS were mostly of mucocutaneous type (68%) and were managed by DDAVP (32%), FVIII/vWF concentrates (37%), intravenous immunoglobulins (33%), plasmapheresis (19%), corticosteroids (19%) and immunosuppressive or chemotherapic agents (35%). Based upon the data of this international registry, it appears that AvWS is especially frequent in lympho- or myeloproliferative and cardiovascular diseases. Therefore, AvWS should be suspected and searched with the appropriate laboratory tests especially when excessive bleeding occurs in

  17. Bipolar Disorder.

    ERIC Educational Resources Information Center

    Spearing, Melissa

    Bipolar disorder, a brain disorder that causes unusual shifts in a person's mood, affects approximately one percent of the population. It commonly occurs in late adolescence and is often unrecognized. The diagnosis of bipolar disorder is made on the basis of symptoms, course of illness, and when possible, family history. Thoughts of suicide are…

  18. Affective Disorders

    ERIC Educational Resources Information Center

    Beach, Steven R. H.; Whisman, Mark A.

    2012-01-01

    Depression is a heterogeneous disorder with lifetime prevalence of "major depressive disorder" estimated to be 16.2%. Although the disorder is common and impairs functioning, it often goes untreated, with less than adequate response even when treated. We review research indicating the likely value of utilizing currently available, well-validated,…

  19. Acquired prosopagnosia without word recognition deficits.

    PubMed

    Susilo, Tirta; Wright, Victoria; Tree, Jeremy J; Duchaine, Bradley

    2015-01-01

    It has long been suggested that face recognition relies on specialized mechanisms that are not involved in visual recognition of other object categories, including those that require expert, fine-grained discrimination at the exemplar level such as written words. But according to the recently proposed many-to-many theory of object recognition (MTMT), visual recognition of faces and words are carried out by common mechanisms [Behrmann, M., & Plaut, D. C. ( 2013 ). Distributed circuits, not circumscribed centers, mediate visual recognition. Trends in Cognitive Sciences, 17, 210-219]. MTMT acknowledges that face and word recognition are lateralized, but posits that the mechanisms that predominantly carry out face recognition still contribute to word recognition and vice versa. MTMT makes a key prediction, namely that acquired prosopagnosics should exhibit some measure of word recognition deficits. We tested this prediction by assessing written word recognition in five acquired prosopagnosic patients. Four patients had lesions limited to the right hemisphere while one had bilateral lesions with more pronounced lesions in the right hemisphere. The patients completed a total of seven word recognition tasks: two lexical decision tasks and five reading aloud tasks totalling more than 1200 trials. The performances of the four older patients (3 female, age range 50-64 years) were compared to those of 12 older controls (8 female, age range 56-66 years), while the performances of the younger prosopagnosic (male, 31 years) were compared to those of 14 younger controls (9 female, age range 20-33 years). We analysed all results at the single-patient level using Crawford's t-test. Across seven tasks, four prosopagnosics performed as quickly and accurately as controls. Our results demonstrate that acquired prosopagnosia can exist without word recognition deficits. These findings are inconsistent with a key prediction of MTMT. They instead support the hypothesis that face

  20. [Acquired immunodeficiency syndrome in pediatric patients].

    PubMed

    Molina Moguel, J L; Ruiz Illezcas, R; Forsbach Sánchez, S; Carreño Alvarez, S; Picco Díaz, I

    1990-12-01

    The object of this study was to determine how many of the patients treated at the Pediatric Odontology Clinic, a branch of the Maxillo-Facial Surgery Service at the Veinte de Noviembre Regional Hospital, ISSSTE, are VIH-positive of show serious manifestations of Acquired Immuno-Deficiency Syndrome (AIDS). For such purpose, 100 pediatric patients suffering from different systemic or local diseases were evaluated, the most common being hematological alterations. Results evidenced the presence of VIH in the blood of five of the pediatric subjects, all suffering from Hemophilia. PMID:2132469

  1. Acquired scalp alopecia. Part II: A review.

    PubMed

    Sullivan, J R; Kossard, S

    1999-05-01

    The neutrophil-associated and infiltrative scarring alopecias are reviewed including folliculitis decalvans, tufted folliculitis, dissecting cellulitis of the scalp, acne keloidalis and follicular degeneration syndrome. The management of acquired scalp alopecia is also reviewed including newer, promising therapies. More specific agents targeting components of the androgen system will make the treatment of androgenetic alopecia more rewarding. Similarly new immunomodulatory therapies show great promise for the lymphocyte-associated alopecias and include a new generation of macrolide immunosuppressives (tacrolimus, SDZ ASM 981, and SDZ 281-240), some of which appear to have good transcutaneous absorption. PMID:10333615

  2. Origins of species: acquired genomes and individuality

    NASA Technical Reports Server (NTRS)

    Margulis, L.

    1993-01-01

    Entire genomes with their accompanying protein synthetic systems are transferred throughout the biosphere primarily as bacteria and protists which become symbionts as they irreversibly integrate into pre-existing organisms to form more complex individuals. Individualization is stabilized by simultaneous transmission of once-separate heterologous genetic systems. The origin of new species is hypothesized to correlate with the acquisition, integration and subsequent inheritance of such acquired microbial genomes. These processes were recognized by Mereschkovsky ("Symbiogenesis" in Russian, 1909) and by Wallin ("Symbionticism", see p. 181, this issue).

  3. Acquired haemophilia masked by warfarin therapy.

    PubMed

    Vadikolia, C M; Riddell, A; Brooks, S; Yee, T T; Brown, S; Lee, C

    2007-02-01

    Acquired haemophilia is a rare phenomenon and prompt diagnosis is essential for successful treatment. Early laboratory detection could minimize its potentially devastating consequences and reduce mortality but when a masking element such as anticoagulant therapy is present, delay in diagnosis is not uncommon. A prolonged activated partial thromboplastin time (APTT) may be falsely attributed to warfarin alone, particularly when it is associated with oral anticoagulant overdose. We describe two patients on treatment with warfarin who presented with a bleeding diathesis and disproportionately prolonged APTT, which led to the diagnosis of antibodies directed against factor VIII. PMID:17224010

  4. Acquired Congenital Malalignment of the Great Toenails

    PubMed Central

    Decker, Ashley; Scher, Richard K.; Avarbock, Andrew

    2016-01-01

    Congenital malalignment is the lateral deviation of the nail plate along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges caused by repeated microtrauma to the nail. Common complications include onychomycosis, Pseudomonas infection and acute or chronic paronychia. Treatment options range from conservative management to surgical options including realignment and nail matrixectomy. Congenital malalignment usually presents in infancy or childhood, but we present two cases of acquired malalignment occurring in the teenage years. PMID:27171597

  5. Acquired Congenital Malalignment of the Great Toenails.

    PubMed

    Decker, Ashley; Scher, Richard K; Avarbock, Andrew

    2016-02-01

    Congenital malalignment is the lateral deviation of the nail plate along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges caused by repeated microtrauma to the nail. Common complications include onychomycosis, Pseudomonas infection and acute or chronic paronychia. Treatment options range from conservative management to surgical options including realignment and nail matrixectomy. Congenital malalignment usually presents in infancy or childhood, but we present two cases of acquired malalignment occurring in the teenage years. PMID:27171597

  6. Clinical features of endemic community-acquired psittacosis.

    PubMed

    Branley, J M; Weston, K M; England, J; Dwyer, D E; Sorrell, T C

    2014-01-01

    Following a large outbreak of community-acquired psittacosis in 2002 in residents of the Blue Mountains, New South Wales, Australia, we reviewed new cases in this area over a 7-year period from 2003 to 2009. Using the 2010 criteria from the Centers for Disease Control National Notifiable Diseases Surveillance System, 85 patients with possible psittacosis were identified, of which 48 were identified as definite or probable infection. Clinical features of these cases are summarized. In addition to Chlamydia-specific serology, specimens, where available, underwent nucleic acid testing for chlamydial DNA using real-time PCR. Chlamydophila psittaci DNA was detected in samples from 23 patients. Four of 18 specimens were culture positive. This is the first description of endemic psittacosis, and is characterized in this location by community-acquired psittacosis resulting from inadvertent exposure to birds. The disease is likely to be under-diagnosed, and may often be mistaken for gastroenteritis or meningitis given the frequency of non-respiratory symptoms, particularly without a history of contact with birds. Clinical characteristics of endemic and outbreak-associated cases were similar. The nature of exposure, risk factors and reasons for the occurrence of outbreaks of psittacosis require further investigation. PMID:25356332

  7. New described dermatological disorders.

    PubMed

    Gönül, Müzeyyen; Cevirgen Cemil, Bengu; Keseroglu, Havva Ozge; Kaya Akis, Havva

    2014-01-01

    Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We divided these reports into different sections, including syndromes, autoinflammatory diseases, tumors, and unclassified disease. Syndromes included are "circumferential skin creases Kunze type" and "unusual type of pachyonychia congenita or a new syndrome"; autoinflammatory diseases include "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome," "pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome," and "pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH) syndrome"; tumors include "acquired reactive digital fibroma," "onychocytic matricoma and onychocytic carcinoma," "infundibulocystic nail bed squamous cell carcinoma," and "acral histiocytic nodules"; unclassified disorders include "saurian papulosis," "symmetrical acrokeratoderma," "confetti-like macular atrophy," and "skin spicules," "erythema papulosa semicircularis recidivans." PMID:25243162

  8. Irregular Sleep-Wake Rhythm Disorder.

    PubMed

    Abbott, Sabra M; Zee, Phyllis C

    2015-12-01

    Irregular sleep-wake rhythm disorder is a circadian rhythm disorder characterized by multiple bouts of sleep within a 24-hour period. Patients present with symptoms of insomnia, including difficulty either falling or staying asleep, and daytime excessive sleepiness. The disorder is seen in a variety of individuals, ranging from children with neurodevelopmental disorders, to patients with psychiatric disorders, and most commonly in older adults with neurodegenerative disorders. Treatment of irregular sleep-wake rhythm disorder requires a multimodal approach aimed at strengthening circadian synchronizing agents, such as daytime exposure to bright light, and structured social and physical activities. In addition, melatonin may be useful in some patients. PMID:26568126

  9. Eating Disorders in Late-life

    PubMed Central

    Luca, Antonina; Luca, Maria; Calandra2, Carmela

    2015-01-01

    Eating disorders are a heterogeneous group of complex psychiatric disorders characterized by abnormal eating behaviours that lead to a high rate of morbidity, or even death, if underestimated and untreated. The main disorders enlisted in the chapter of the Diagnostic and Statistic Manual of Mental Disorders-5 dedicated to “Feeding and Eating Disorders” are: anorexia nervosa, bulimia nervosa and binge eating disorder. Even though these abnormal behaviours are mostly diagnosed during childhood, interesting cases of late-life eating disorders have been reported in literature. In this review, these eating disorders are discussed, with particular attention to the diagnosis and management of those cases occurring in late-life. PMID:25657852

  10. Functional gallbladder disorder: gallbladder dyskinesia.

    PubMed

    Hansel, Stephanie L; DiBaise, John K

    2010-06-01

    Functional gallbladder disorder, commonly referred to as gallbladder dyskinesia, is characterized by the occurrence of abdominal pain resembling gallbladder pain but in the absence of gallstones. The diagnosis and management of this condition can be confusing even for the most astute clinician. The aim of this article is to clarify the identification and management of patients with suspected functional gallbladder disorder. PMID:20478492

  11. Attention deficit hyperactivity disorder.

    PubMed

    Kulkarni, Madhuri

    2015-03-01

    Attention Deficit Hyperactivity Disorder (ADHD) is a common behavioral disorder in children. It is characterized by motor hyperactivity, impulsivity and inattention inappropriate for the age. Approximately 5-10 % of school age children are diagnosed to have ADHD. The affected children show significant impairment in social behavior and academic performance. The DSM-5 criteria are useful in diagnosing three subtypes of ADHD based on presence of symptoms described in 3 domains viz ., inattention, hyperactivity and impulsivity. Co-morbidities like specific learning disability, anxiety disorder, oppositional defiant disorder are commonly associated with ADHD.Education of parents and teachers, behavioral therapy and medication are main components of management. Methylphenidate and Atomoxetine are effective in controlling symptoms of ADHD in most children. Research studies estimated that 30-60 % of children continue to show symptoms of ADHD in adulthood. The general practitioner can play an important role in early diagnosis, appropriate assessment and guiding parents for management of children with ADHD. PMID:25186567

  12. Autism Spectrum Disorders

    PubMed Central

    Hyman, Mark; Swift, Kathie

    2012-01-01

    Autism spectrum disorders (ASDs) are collectively the most commonly diagnosed pediatric neurodevelopmental condition. ASDs include autism, pervasive developmental disorder-not otherwise specified (PDD-NOS), Rett syndrome and Asperger disorder. ASD is characterized by impaired communication and social interaction and may involve developmental delays and seizure disorders. Recent parent-reported diagnosis of ASD in the United States put it at higher levels (1:91) than previously thought, with its diagnosis in boys occurring 4 to 5 times more frequently than in girls (1:58).1 CDC estimates are currently 1:110;1 up from 1:150 in 2007.2 Annual medical expenditures for those affected are generally four to six times greater than for those without ASD.1 While twin studies demonstrate that genetics play a significant role in ASD, the impact of environment should not be underestimated, given the approximate 20-fold increase in incidence over the last 20 years.3 PMID:24278834

  13. Attention Deficit Hyperactivity Disorder

    PubMed Central

    Matthews, Marguerite; Nigg, Joel T.

    2014-01-01

    Over the last two decades, there have been numerous technical and methodological advances available to clinicians and researchers to better understand attention deficit hyperactivity disorder (ADHD) and its etiology. Despite the growing body of literature investigating the disorder’s pathophysiology, ADHD remains a complex psychiatric disorder to characterize. This chapter will briefly review the literature on ADHD, with a focus on its history, the current genetic insights, neurophysiologic theories, and the use of neuroimaging to further understand the etiology. We address some of the major concerns that remain unclear about ADHD, including subtype instability, heterogeneity, and the underlying neural correlates that define the disorder. We highlight that the field of ADHD is rapidly evolving; the descriptions provided here will hopefully provide a sturdy foundation for which to build and improve our understanding of the disorder. PMID:24214656

  14. Obsessive-compulsive spectrum disorders

    PubMed Central

    Allen, Andrea; King, Audrey; Hollander, Eric

    2003-01-01

    The obsessive-compulsive spectrum is an important concept referring to a number of disorders drawn from several diagnostic categories that share core obsessive-compulsive features. These disorders can be grouped by the focus of their symptoms: bodily preoccupation, impulse control, or neurological disorders. Although the disorders are clearly distinct from one another, they have intriguing similarities in phenomenology, etiology, pathophysiology, patient characteristics, and treatment response. In combination with the knowledge gained through many years of research on obsessive-compulsive disorder (OCD), the concept of a spectrum has generated much fruitful research on the spectrum disorders. It has become apparent that these disorders can also be viewed as being on a continuum of compulsivity to impulsivity, characterized by harm avoidance at the compulsive end and risk seeking at the impulsive end. The compulsive and impulsive disorders differ in systematic ways that are just beginning to be understood. Here, we review these concepts and several representative obsessive-compulsive spectrum disorders including both compulsive and impulsive disorders, as well as the three different symptom clusters: OCD, body dysmorphic disorder, pathological gambling, sexual compulsivity, and autism spectrum disorders. PMID:22033547

  15. Attachment and Personality Disorders

    ERIC Educational Resources Information Center

    Sinha, Preeti; Sharan, Pratap

    2007-01-01

    Personality disorders (PDs) arise from core psychopathology of interpersonal relationships and understanding of self and others. The distorted representations of self and others, as well as unhealthy relationships that characterize persons with various PDs, indicate the possibility that persons with PDs have insecure attachment. Insecure…

  16. Acquiring local field potential information from amperometric neurochemical recordings

    PubMed Central

    Zhang, Hao; Lin, Shih-Chieh; Nicolelis, Miguel A.L.

    2009-01-01

    Simultaneous acquisition of in vivo electrophysiological and neurochemical information is essential for understanding how endogenous neurochemicals modulate the dynamics of brain activity. However, up to now such a task has rarely been accomplished due to the major technical challenge of operating two independent recording systems simultaneously in real-time. Here we propose a simpler solution for achieving this goal by using only a standard electrochemical technique - amperometry. To demonstrate its feasibility, we compared amperometric signals with simultaneously recorded local field potential (LFP) signals. We found that the high frequency component (HFC) of the amperometric signals did not reflect neurochemical fluctuations, but instead it resembled LFPs in several aspects, including: (1) coherent spectral fluctuations; (2) clear characterization of different brain states; (3) identical hippocampal theta depth profile. As such, our findings provide the first demonstration that both LFP and local neurochemical information can be simultaneously acquired from electrochemical sensors alone. PMID:19428527

  17. Asian elephants acquire inaccessible food by blowing.

    PubMed

    Mizuno, Kaori; Irie, Naoko; Hiraiwa-Hasegawa, Mariko; Kutsukake, Nobuyuki

    2016-01-01

    Many animals acquire otherwise inaccessible food with the aid of sticks and occasionally water. As an exception, some reports suggest that elephants manipulate breathing through their trunks to acquire inaccessible food. Here, we report on two female Asian elephants (Elephas maximus) in Kamine Zoo, Japan, who regularly blew to drive food within their reach. We experimentally investigated this behaviour by placing foods in inaccessible places. The elephants blew the food until it came within accessible range. Once the food was within range, the elephants were increasingly less likely to blow as the distance to the food became shorter. One subject manipulated her blowing duration based on food distance: longer when the food was distant. These results suggest that the elephants used their breath to achieve goals: that is, they used it not only to retrieve the food but also to fine-tune the food position for easy grasping. We also observed individual differences in the elephants' aptitude for this technique, which altered the efficiency of food acquisition. Thus, we added a new example of spontaneous behaviour for achieving a goal in animals. The use of breath to drive food is probably unique to elephants, with their dexterous trunks and familiarity with manipulating the act of blowing, which is commonly employed for self-comfort and acoustic communication. PMID:26541597

  18. Tetracycline resistance genes acquired at birth.

    PubMed

    Alicea-Serrano, Angela M; Contreras, Mónica; Magris, Magda; Hidalgo, Glida; Dominguez-Bello, Maria G

    2013-06-01

    Newborns acquire their first microbiota at birth. Maternal vaginal or skin bacteria colonize newborns delivered vaginally or by C-section, respectively (Dominguez-Bello et al. 2010 #884). We aimed to determine differences in the presence of four tetracycline (tet) resistance genes, in the microbes of ten newborns and in the mouth and vagina of their mothers, at the time of birth. DNA was amplified by PCR with primers specific for [tet(M), tet(O), tet(Q), and tet(W)]. Maternal vaginas harbored all four tet resistance genes, but most commonly tet(M) and tet(O) (63 and 38 %, respectively). Genes coding for tet resistance differed by birth mode, with 50 % of vaginally delivered babies had tet(M) and tet(O) and 16 and 13 % of infants born by C-section had tet(O) and tet(W), respectively. Newborns acquire antibiotic resistance genes at birth, and the resistance gene profile varies by mode of delivery. PMID:23483141

  19. Surgery-associated acquired hemophilia A.

    PubMed

    Theodossiades, G; Tsevrenis, V; Nomikou, E; Dadiotis, L; Kontopoulou-Griva, I

    2001-11-01

    We present two patients who acquired factor VIII antibodies in the immediate postoperative period. One patient was receiving warfarin that was temporarily discontinued but reintroduced after the procedure. Preoperatively, none gave a history of bleeding, even with past surgeries, and both had normal coagulation tests. Within days of surgery, hemorrhage with prolonged activated partial thromboplastin time, low factor VIII levels, and demonstrable factor VIII antibodies were observed. For the patient who was receiving warfarin the severe bleeding was attributed, at the beginning, only to the high international normalized ratio (INR), which resulted in a fatal delay in diagnosis and appropriate treatment. We would like to raise awareness of surgery as a precipitating cause of acquired hemophilia, which is something to be considered with unusual postoperative bleeding. This syndrome is remarkable for its abrupt onset within days of surgery, severe bleeding but potential successful outcome with combined hemostatic control with recombinant activated FVII (rFVIIa) and elimination of the antibody by immunosuppression. PMID:11757731

  20. Bipolar disorder.

    PubMed

    Grande, Iria; Berk, Michael; Birmaher, Boris; Vieta, Eduard

    2016-04-01

    Bipolar disorder is a recurrent chronic disorder characterised by fluctuations in mood state and energy. It affects more than 1% of the world's population irrespective of nationality, ethnic origin, or socioeconomic status. Bipolar disorder is one of the main causes of disability among young people, leading to cognitive and functional impairment and raised mortality, particularly death by suicide. A high prevalence of psychiatric and medical comorbidities is typical in affected individuals. Accurate diagnosis of bipolar disorder is difficult in clinical practice because onset is most commonly a depressive episode and looks similar to unipolar depression. Moreover, there are currently no valid biomarkers for the disorder. Therefore, the role of clinical assessment remains key. Detection of hypomanic periods and longitudinal assessment are crucial to differentiate bipolar disorder from other conditions. Current knowledge of the evolving pharmacological and psychological strategies in bipolar disorder is of utmost importance. PMID:26388529

  1. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.

    PubMed

    Singh, Gaurav; Miteva, Mariya

    2016-09-01

    Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective was to review the literature regarding the prognosis and treatment options of hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in the English language related to the prognosis and management of hair shaft disorders. Data were extracted from 96 articles that met search criteria. Findings were limited to case reports and small case series, as no studies were found. Disorders that improve in childhood include pili torti, trichorrhexis invaginata, wooly hair, and pili trianguli et canaliculi. Others, such as trichorrhexis nodosa, monilethrix, pili annulati, and pili bifurcati improve with minoxidil. Oral retinoids have improved hair abnormalities in trichorrhexis invaginata and monilethrix. There is no specific treatment for congenital hair shaft abnormalities. Gentle hair care is the mainstay of care for hair shaft disorders associated with fragility. Practices for gentle care include no brushing, backcombing, chemical products, tight braids, heat exposure, or mechanical grooming. Any inherited or congenital disorder requires genetic counseling as part of management. PMID:27292719

  2. Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II.

    PubMed

    Singh, Gaurav; Miteva, Mariya

    2016-09-01

    Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective of this study was to review the literature regarding the prognosis and treatment options for hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in English related to the prognosis and management of hair shaft disorders. Data were extracted from 96 articles that met search criteria. Findings were limited to case reports and small case series, as no studies were found. Disorders that improve in childhood include pili torti, trichorrhexis invaginata, woolly hair, and pili trianguli et canaliculi. Others, such as trichorrhexis nodosa, monilethrix, pili annulati, and pili bifurcati, improve with minoxidil. Oral retinoids have been found to improve hair abnormalities in trichorrhexis invaginata and monilethrix. There is no specific treatment for congenital hair shaft abnormalities. Gentle hair care is the mainstay of care for hair shaft disorders associated with fragility. Practices for gentle care include no brushing, backcombing, chemical products, tight braids, heat exposure, or mechanical grooming. Furthermore, any inherited or congenital disorder requires genetic counseling as part of management. PMID:27293153

  3. Transcriptional plasticity promotes primary and acquired resistance to BET inhibition.

    PubMed

    Rathert, Philipp; Roth, Mareike; Neumann, Tobias; Muerdter, Felix; Roe, Jae-Seok; Muhar, Matthias; Deswal, Sumit; Cerny-Reiterer, Sabine; Peter, Barbara; Jude, Julian; Hoffmann, Thomas; Boryń, Łukasz M; Axelsson, Elin; Schweifer, Norbert; Tontsch-Grunt, Ulrike; Dow, Lukas E; Gianni, Davide; Pearson, Mark; Valent, Peter; Stark, Alexander; Kraut, Norbert; Vakoc, Christopher R; Zuber, Johannes

    2015-09-24

    Following the discovery of BRD4 as a non-oncogene addiction target in acute myeloid leukaemia (AML), bromodomain and extra terminal protein (BET) inhibitors are being explored as a promising therapeutic avenue in numerous cancers. While clinical trials have reported single-agent activity in advanced haematological malignancies, mechanisms determining the response to BET inhibition remain poorly understood. To identify factors involved in primary and acquired BET resistance in leukaemia, here we perform a chromatin-focused RNAi screen in a sensitive MLL-AF9;Nras(G12D)-driven AML mouse model, and investigate dynamic transcriptional profiles in sensitive and resistant mouse and human leukaemias. Our screen shows that suppression of the PRC2 complex, contrary to effects in other contexts, promotes BET inhibitor resistance in AML. PRC2 suppression does not directly affect the regulation of Brd4-dependent transcripts, but facilitates the remodelling of regulatory pathways that restore the transcription of key targets such as Myc. Similarly, while BET inhibition triggers acute MYC repression in human leukaemias regardless of their sensitivity, resistant leukaemias are uniformly characterized by their ability to rapidly restore MYC transcription. This process involves the activation and recruitment of WNT signalling components, which compensate for the loss of BRD4 and drive resistance in various cancer models. Dynamic chromatin immunoprecipitation sequencing and self-transcribing active regulatory region sequencing of enhancer profiles reveal that BET-resistant states are characterized by remodelled regulatory landscapes, involving the activation of a focal MYC enhancer that recruits WNT machinery in response to BET inhibition. Together, our results identify and validate WNT signalling as a driver and candidate biomarker of primary and acquired BET resistance in leukaemia, and implicate the rewiring of transcriptional programs as an important mechanism promoting

  4. Transcriptional plasticity promotes primary and acquired resistance to BET inhibition

    PubMed Central

    Neumann, Tobias; Muerdter, Felix; Roe, Jae-Seok; Muhar, Matthias; Deswal, Sumit; Cerny-Reiterer, Sabine; Peter, Barbara; Jude, Julian; Hoffmann, Thomas; Boryń, Łukasz M.; Axelsson, Elin; Schweifer, Norbert; Tontsch-Grunt, Ulrike; Dow, Lukas E.; Gianni, Davide; Pearson, Mark; Valent, Peter; Stark, Alexander; Kraut, Norbert; Vakoc, Christopher R.; Zuber, Johannes

    2016-01-01

    Summary Following the discovery of BRD4 as a non-oncogene addiction target in acute myeloid leukemia (AML)1,2, BET inhibitors are being explored as promising therapeutic avenue in numerous cancers3–5. While clinical trials have reported single-agent activity in advanced hematologic malignancies6, mechanisms determining the response to BET inhibition remain poorly understood. To identify factors involved in primary and acquired BET resistance in leukemia, we performed a chromatin-focused RNAi screen in a sensitive MLL/AF9; NrasG12D -driven AML model, and investigated dynamic transcriptional profiles in sensitive and resistant murine and human leukemias. Our screen reveals that suppression of the PRC2 complex, contrary to effects in other contexts, promotes BET inhibitor resistance in AML. PRC2 suppression does not directly affect the regulation of Brd4-dependent transcripts, but facilitates the remodeling of regulatory pathways that restore the transcription of key targets such as Myc. Similarly, while BET inhibition triggers acute MYC repression in human leukemias regardless of their sensitivity, resistant leukemias are uniformly characterized by their ability to rapidly restore MYC transcription. This process involves the activation and recruitment of WNT signaling components, which compensate for the loss of BRD4 and drive resistance in various cancer models. Dynamic ChIP- and STARR-seq enhancer profiles reveal that BET-resistant states are characterized by remodeled regulatory landscapes, involving the activation of a focal MYC enhancer that recruits WNT machinery in response to BET inhibition. Together, our results identify and validate WNT signaling as a driver and candidate biomarker of primary and acquired BET resistance in leukemia, and implicate the rewiring of transcriptional programs as an important mechanism promoting resistance to BET inhibitors and, potentially, other chromatin-targeted therapies. PMID:26367798

  5. Inducible and Acquired Clarithromycin Resistance in the Mycobacterium abscessus Complex

    PubMed Central

    Rubio, Marc; March, Francesca; Garrigó, Montserrat; Moreno, Carmen; Español, Montserrat; Coll, Pere

    2015-01-01

    Purpose Clarithromycin was considered the cornerstone for the treatment of Mycobacterium abscessus complex infections. Genetic resistance mechanisms have been described and many experts propose amikacin as an alternative. Nevertheless, clarithromycin has several advantages; therefore, it is necessary to identify the non-functional erm(41) allele to determine the most suitable treatment. The aims of this study were to characterize the molecular mechanisms of clarithromycin resistance in a collection of Mycobacterium abscessus complex isolates and to verify the relationship between these mechanisms and the antibiogram. Materials and Methods Clinical isolates of M. abscessus complex (n = 22) from 16 patients were identified using four housekeeping genes (rpoB, secA1, sodA and hsp65), and their genetic resistance was characterized by studying erm(41) and rrl genes. Nine strains were recovered from the clinical isolates and subjected to E-test and microdilution clarithromycin susceptibility tests, with readings at 3, 7 and 14 days. Results We classified 11/16 (68.8%) M. abscessus subsp. abscessus, 4/16 (25.0%) M. abscessus subsp. bolletii, and 1/16 (6.3%) M. abscessus subsp. massiliense. T28 erm(41) allele was observed in 8 Mycobacterium abscessus subps. abscessus and 3 Mycobacterium abscessus subsp. bolletii. One strain of M. abscessus subsp. bolletii had an erm(41) gene truncated and was susceptible to clarithromycin. No mutations were observed in rrl gene first isolates. In three patients, follow-up of initial rrl wild-type strains showed acquired resistance. Conclusions Most clinical isolates of M. abscessus complex had inducible resistance to clarithromycin and total absence of constitutive resistance. Our findings showed that the acquisition of resistance mutations in rrl gene was associated with functional and non-functional erm(41) gene. Caution is needed when using erm(41) sequencing alone to identify M. abscessus subspecies. This study reports an acquired

  6. Eating disorders and the skin.

    PubMed

    Strumia, Renata

    2013-01-01

    Eating disorders, which include anorexia nervosa, bulimia nervosa, and eating disorder not otherwise specified, are psychiatric disorders with physical complications. Several factors may contribute to the onset of anorexia nervosa and bulimia nervosa, including a familial predisposition to these disorders as well as individual personality characteristics. Dissatisfaction with body shape and an overwhelming desire to be thin are considered as risk factors for the development of eating disorders. Skin signs are the expression of the medical consequences of starvation, vomiting, abuse of drugs, such as laxatives and diuretics, and psychiatric morbidity. They include xerosis, lanugolike body hair, telogen effluvium, carotenoderma, acne, hyperpigmentation, seborrheic dermatitis, acrocyanosis, perniosis, petechiae, livedo reticularis, interdigital intertrigo, paronychia, acquired striae distensae, and acral coldness. The most characteristic cutaneous sign of vomiting is Russell sign (knuckle calluses). Symptoms due to laxative or diuretic abuse include adverse reactions to drugs. Symptoms due to psychiatric morbidity (artefacta) include the consequences of self-induced trauma. The role of the dermatologist in the management of eating disorders is to make an early diagnosis of the "hidden" signs of eating disorders in patients who tend to minimize or deny their disorder. PMID:23245978

  7. In-Cell NMR Characterization of the Secondary Structure Populations of a Disordered Conformation of α-Synuclein within E. coli Cells

    PubMed Central

    Waudby, Christopher A.; Camilloni, Carlo; Fitzpatrick, Anthony W. P.; Cabrita, Lisa D.; Dobson, Christopher M.; Vendruscolo, Michele; Christodoulou, John

    2013-01-01

    α-Synuclein is a small protein strongly implicated in the pathogenesis of Parkinson’s disease and related neurodegenerative disorders. We report here the use of in-cell NMR spectroscopy to observe directly the structure and dynamics of this protein within E. coli cells. To improve the accuracy in the measurement of backbone chemical shifts within crowded in-cell NMR spectra, we have developed a deconvolution method to reduce inhomogeneous line broadening within cellular samples. The resulting chemical shift values were then used to evaluate the distribution of secondary structure populations which, in the absence of stable tertiary contacts, are a most effective way to describe the conformational fluctuations of disordered proteins. The results indicate that, at least within the bacterial cytosol, α-synuclein populates a highly dynamic state that, despite the highly crowded environment, has the same characteristics as the disordered monomeric form observed in aqueous solution. PMID:23991082

  8. Circadian Rhythm Sleep Disorders

    PubMed Central

    Kim, Min Ju; Lee, Jung Hie; Duffy, Jeanne F.

    2014-01-01

    Objective To review circadian rhythm sleep disorders, including underlying causes, diagnostic considerations, and typical treatments. Methods Literature review and discussion of specific cases. Results Survey studies 1,2 suggest that up to 3% of the adult population suffers from a circadian rhythm sleep disorder (CRSD). However, these sleep disorders are often confused with insomnia, and an estimated 10% of adult and 16% of adolescent sleep disorders patients may have a CRSD 3-6. While some CRSD (such as jet lag) can be self-limiting, others when untreated can lead to adverse medical, psychological, and social consequences. The International Classification of Sleep Disorders classifies CRSD as dyssomnias, with six subtypes: Advanced Sleep Phase Type, Delayed Sleep Phase Type, Irregular Sleep Wake Type, Free Running Type, Jet Lag Type, and Shift Work Type. The primary clinical characteristic of all CRSD is an inability to fall asleep and wake at the desired time. It is believed that CRSD arise from a problem with the internal biological clock (circadian timing system) and/or misalignment between the circadian timing system and the external 24-hour environment. This misalignment can be the result of biological and/or behavioral factors. CRSD can be confused with other sleep or medical disorders. Conclusions Circadian rhythm sleep disorders are a distinct class of sleep disorders characterized by a mismatch between the desired timing of sleep and the ability to fall asleep and remain asleep. If untreated, CRSD can lead to insomnia and excessive daytime sleepiness, with negative medical, psychological, and social consequences. It is important for physicians to recognize potential circadian rhythm sleep disorders so that appropriate diagnosis, treatment, and referral can be made. PMID:25368503

  9. AIDS: Acquired Immune Deficiency Syndrome, Information and Procedural Guidelines for Providing Services to Persons with AIDS/HTLV-III.

    ERIC Educational Resources Information Center

    Montana State Dept. of Health and Environmental Sciences, Helena.

    This manual presents information about the disease, Acquired Immune Deficiency Syndrome (AIDS), and guidelines for service delivery to Montana residents who have been diagnosed with AIDS or related disorders. The first section describes the disease's causes, symptoms, and transmission; risk factors; high-risk populations; prevention suggestions;…

  10. Processed pseudogenes acquired somatically during cancer development.

    PubMed

    Cooke, Susanna L; Shlien, Adam; Marshall, John; Pipinikas, Christodoulos P; Martincorena, Inigo; Tubio, Jose M C; Li, Yilong; Menzies, Andrew; Mudie, Laura; Ramakrishna, Manasa; Yates, Lucy; Davies, Helen; Bolli, Niccolo; Bignell, Graham R; Tarpey, Patrick S; Behjati, Sam; Nik-Zainal, Serena; Papaemmanuil, Elli; Teixeira, Vitor H; Raine, Keiran; O'Meara, Sarah; Dodoran, Maryam S; Teague, Jon W; Butler, Adam P; Iacobuzio-Donahue, Christine; Santarius, Thomas; Grundy, Richard G; Malkin, David; Greaves, Mel; Munshi, Nikhil; Flanagan, Adrienne M; Bowtell, David; Martin, Sancha; Larsimont, Denis; Reis-Filho, Jorge S; Boussioutas, Alex; Taylor, Jack A; Hayes, Neil D; Janes, Sam M; Futreal, P Andrew; Stratton, Michael R; McDermott, Ultan; Campbell, Peter J

    2014-01-01

    Cancer evolves by mutation, with somatic reactivation of retrotransposons being one such mutational process. Germline retrotransposition can cause processed pseudogenes, but whether this occurs somatically has not been evaluated. Here we screen sequencing data from 660 cancer samples for somatically acquired pseudogenes. We find 42 events in 17 samples, especially non-small cell lung cancer (5/27) and colorectal cancer (2/11). Genomic features mirror those of germline LINE element retrotranspositions, with frequent target-site duplications (67%), consensus TTTTAA sites at insertion points, inverted rearrangements (21%), 5' truncation (74%) and polyA tails (88%). Transcriptional consequences include expression of pseudogenes from UTRs or introns of target genes. In addition, a somatic pseudogene that integrated into the promoter and first exon of the tumour suppressor gene, MGA, abrogated expression from that allele. Thus, formation of processed pseudogenes represents a new class of mutation occurring during cancer development, with potentially diverse functional consequences depending on genomic context. PMID:24714652

  11. ACECARD. Acquire CoOmmodities Easily Card

    SciTech Connect

    Soler, E.E.

    1996-09-01

    Acquire Commodities Easily Card (AceCard) provides an automated end-user method to distribute company credit card charges to internal charge numbers. AceCard will allow cardholders to record card purchases in an on-line order log, enter multiple account distributions per order that can be posted to the General Ledger, track orders, and receipt information, and provide a variety of cardholder and administrative reports. Please note: Customers must contact Ed Soler (423)-576-6151, Lockheed Martin Energy Systems, for help with the installation of the package. The fee for this installation help will be coordinated by the customer and Lockheed Martin and is in addition to cost of the package from ESTSC. Customers should contact Sandy Presley (423)-576-4708 for user help.

  12. Acquire CoOmmodities Easily Card

    1998-05-29

    Acquire Commodities Easily Card (AceCard) provides an automated end-user method to distribute company credit card charges to internal charge numbers. AceCard will allow cardholders to record card purchases in an on-line order log, enter multiple account distributions per order that can be posted to the General Ledger, track orders, and receipt information, and provide a variety of cardholder and administrative reports. Please note: Customers must contact Ed Soler (423)-576-6151, Lockheed Martin Energy Systems, for helpmore » with the installation of the package. The fee for this installation help will be coordinated by the customer and Lockheed Martin and is in addition to cost of the package from ESTSC. Customers should contact Sandy Presley (423)-576-4708 for user help.« less

  13. Acquired Localized Hypertrichosis Induced by Rivastigmine

    PubMed Central

    Imbernón-Moya, Adrian; Podlipnik, Sebastian; Burgos, Fernando; Vargas-Laguna, Elena; Aguilar-Martínez, Antonio; Fernández-Cogolludo, Eva; Gallego-Valdes, Miguel Angel

    2016-01-01

    Hypertrichosis is the excessive hair growth in any area of the skin surface. Acquired localized hypertrichosis may be secondary to multiple causes and there is a secondary form due to several drugs, which is usually reversible with discontinuation of the causative agent. Rivastigmine is a reversible and competitive inhibitor of acetylcholinesterase and butyrylcholinesterase used for symptomatic treatment of Alzheimer dementia and Parkinson's disease. It has an adequate safety profile and cutaneous side effects are unusual. Irritant contact dermatitis, allergic dermatitis, baboon syndrome, and cutaneous rash due to rivastigmine have been reported. We report on a Caucasian 80-year-old male with personal history of Alzheimer's disease. The patient started therapy with oral rivastigmine one month prior to clinical presentation of localized hypertrichosis on both forearms. Norgalanthamine has been shown to promote hair growth activity via the proliferation of dermal papilla. Acetylcholinesterase inhibitors can induce hair growth. PMID:27073702

  14. How to divest acquired physician practices.

    PubMed

    O'Hare, P K

    1999-02-01

    When an integrated delivery system (IDS) determines it must divest itself of a previously acquired physician practice, it must manage the transaction with care. The IDS most likely will want to maintain a positive ongoing relationship with the physician practice, while avoiding concessions to the practice that could be construed as violations of state and Federal laws. Before proceeding, the IDS should evaluate the reasons for divesting the practice, assess legal issues involved in terminating contracts with the practice, decide how to deal with the practice's assets and office facilities, consider whether covenants not to compete should be enforced, ensure continued access to essential medical records, consider whether to incorporate a "non-disparagement" clause in the termination agreement, and determine what mutual general releases may be necessary. PMID:10345614

  15. The acquired immunodeficiency syndrome in gay men.

    PubMed

    Jaffe, H W; Hardy, A M; Morgan, W M; Darrow, W W

    1985-11-01

    The acquired immunodeficiency syndrome (AIDS) is a major health problem for gay men in the United States. About three fourths of all reported cases have occurred in this population, and the number is projected to double in the next year. In Manhattan and San Francisco, AIDS is now the leading cause of premature mortality in men aged 25 to 44 years who have never married. In a sample of a cohort of gay men enrolled in a San Francisco clinic, 2.7% of the men had the syndrome and 26% had related conditions in 1984. Antibody to human T-lymphotropic virus, type III/lymphadenopathy-associated virus was found in sera from 67% of the men, including 58% of asymptomatic men. Behavioral factors associated with an increased risk of AIDS include large numbers of sexual partners, receptive anal intercourse, and "fisting." The adoption of safer lifestyles is currently the basis of attempts to control the syndrome in gay men. PMID:2996396

  16. Human temporal bone findings in acquired hypothyroidism.

    PubMed

    Hald, J; Milroy, C M; Jensen, K D; Parving, A

    1991-11-01

    Histological studies of the auditory organ in patients with acquired hypothyroidism are scarce. Thus the aim of the present study was to examine the temporal bones and the brain in subjects with hypothyroidism. Four temporal bones and two brains from clinically and biochemically hypothyroid subjects were removed and evaluated by light microscopy determine to the morphological changes and deposition of neutral and acid glycosaminoglycans. An audiogram from one of the patients showed a sensorineural hearing loss, which could be ascribed to occupational noise exposure. The study revealed histological changes compatible with age and infectious disease. No accumulation of neutral or acid glycosaminoglycans could be demonstrated in the temporal bones, or in the brains. PMID:1761939

  17. [Merits of acquiring ISO15189 accreditation].

    PubMed

    Kitagawa, Masami

    2010-01-01

    In Japan, an ISO15189 accreditation system was started in 2005. To date, 47 hospitals have been accredited. In this session, I will present the merits of acquiring accreditation regarding ISO15189 based on our experience. Our hospital has 263 beds. The Clinical Examination Section consists of 12 staff (including 5 part-time workers): 7 in change of sample examination and 5 in charge of physiological examination. The annual number of samples is approximately 150,000. Samples collected on health checkups account for 90%. To improve the quality and service, assessment by third persons has been positively utilized in our hospital. Accreditation regarding ISO9001, ISO14001, ISO27001, privacy mark, hospital function assessment, the functional assessment of "ningen-dock"/health checkup hospitals, labor/hygiene service function assessment, and ISO15189 has been acquired. Patients may not recognize ISO. So, it must be utilized, considering that the acquisition of accreditation is not a goal but a starting point. Furthermore, cost-performance should be improved to achieve utilization-related merits. It is important to not only acquire accreditation but also help clinical staff and patients become aware of some changes/merits. Patients may consult a hospital for the following reasons: confidence in the hospital, and the staffs kind/polite attitudes. Long-term management strategies should be established without pursuing only short-term profits. I will introduce several merits of acquiring accreditation regarding ISO15189. Initially, incidental conditions for bids and appeal points include accreditation regarding ISO15189. Our corporation has participated in some competitive bids regarding health checkup business. In some companies, the bid conditions included ISO acquisition. In our hospital, clinical trials have been positively carried out. For participation in trials, hospitals must pass an institutional examination. However, ISO acquisition facilitates the preparation of

  18. Acquired immunodeficiency syndrome: Ga-67 citrate imaging

    SciTech Connect

    Woolfenden, J.M.; Carrasquillo, J.A.; Larson, S.M.; Simmons, J.T.; Masur, H.; Smith, P.D.; Shelhamer, J.H.; Ognibene, F.P.

    1987-02-01

    All gallium-67 citrate scans obtained in patients with acquired immunodeficiency syndrome (AIDS) at the Clinical Center, National Institutes of Health (Bethesda, Md.) were retrospectively analyzed and correlated with the results of bronchoscopy, chest radiography, and endoscopy. There were 164 scans of 95 patients. Twenty scans were from patients with Pneumocystis carinii pneumonia; 19 were abnormal, for a sensitivity of 95%. Ga-67 uptake tended to be less in patients receiving therapy for P. carinii pneumonia. Chest radiographs were normal at least initially in three patients with abnormal scans and P. carinii pneumonia. Unusually prominent colonic activity was associated with infection in some patients. No lesions of Kaposi sarcoma showed tracer uptake. Gallium scanning is useful for detecting P. carinii pneumonia and other opportunistic infections in patients with AIDS, but it is not useful for localizing Kaposi sarcoma.

  19. Acquiring ownership and the attribution of responsibility.

    PubMed

    Palamar, Max; Le, Doan T; Friedman, Ori

    2012-08-01

    How is ownership established over non-owned things? We suggest that people may view ownership as a kind of credit given to agents responsible for making possession of a non-owned object possible. On this view, judgments about the establishment of ownership depend on attributions of responsibility. We report three experiments showing that people's judgments about the establishment of ownership are influenced by an agent's intent and control in bringing about an outcome, factors that also affect attributions of responsibility. These findings demonstrate that people do not just consider who was first to possess an object in judging who owns it, and are broadly consistent with the view that ownership is acquired through labor. The findings also suggest that rather than exclusively being the product of social conventions, judgments about the establishment of ownership over non-owned things also depend on the psychological processes underlying the attribution of responsibility. PMID:22591710

  20. Covalent targeting of acquired cysteines in cancer.

    PubMed

    Visscher, Marieke; Arkin, Michelle R; Dansen, Tobias B

    2016-02-01

    The thiolate side chain of cysteine has a unique functionality that drug hunters and chemical biologists have begun to exploit. For example, targeting cysteine residues in the ATP-binding pockets of kinases with thiol-reactive molecules has afforded increased selectivity and potency to drugs like imbrutinib, which inhibits the oncogene BTK, and CO-1686 and AZD9291 that target oncogenic mutant EGFR. Recently, disulfide libraries and targeted GDP-mimetics have been used to selectively label the G12C oncogenic mutation in KRAS. We reasoned that other oncogenes contain mutations to cysteine, and thus screened the Catalog of Somatic Mutations in Cancer for frequently acquired cysteines. Here, we describe the most common mutations and discuss how these mutations could be potential targets for cysteine-directed personalized therapeutics. PMID:26629855

  1. Processed pseudogenes acquired somatically during cancer development

    PubMed Central

    Cooke, Susanna L.; Shlien, Adam; Marshall, John; Pipinikas, Christodoulos P.; Martincorena, Inigo; Tubio, Jose M.C.; Li, Yilong; Menzies, Andrew; Mudie, Laura; Ramakrishna, Manasa; Yates, Lucy; Davies, Helen; Bolli, Niccolo; Bignell, Graham R.; Tarpey, Patrick S.; Behjati, Sam; Nik-Zainal, Serena; Papaemmanuil, Elli; Teixeira, Vitor H.; Raine, Keiran; O’Meara, Sarah; Dodoran, Maryam S.; Teague, Jon W.; Butler, Adam P.; Iacobuzio-Donahue, Christine; Santarius, Thomas; Grundy, Richard G.; Malkin, David; Greaves, Mel; Munshi, Nikhil; Flanagan, Adrienne M.; Bowtell, David; Martin, Sancha; Larsimont, Denis; Reis-Filho, Jorge S.; Boussioutas, Alex; Taylor, Jack A.; Hayes, Neil D.; Janes, Sam M.; Futreal, P. Andrew; Stratton, Michael R.; McDermott, Ultan; Campbell, Peter J.; Provenzano, Elena; van de Vijver, Marc; Richardson, Andrea L.; Purdie, Colin; Pinder, Sarah; Mac Grogan, Gaetan; Vincent-Salomon, Anne; Larsimont, Denis; Grabau, Dorthe; Sauer, Torill; Garred, Øystein; Ehinger, Anna; Van den Eynden, Gert G.; van Deurzen, C.H.M; Salgado, Roberto; Brock, Jane E.; Lakhani, Sunil R.; Giri, Dilip D.; Arnould, Laurent; Jacquemier, Jocelyne; Treilleux, Isabelle; Caldas, Carlos; Chin, Suet-Feung; Fatima, Aquila; Thompson, Alastair M.; Stenhouse, Alasdair; Foekens, John; Martens, John; Sieuwerts, Anieta; Brinkman, Arjen; Stunnenberg, Henk; Span, Paul N.; Sweep, Fred; Desmedt, Christine; Sotiriou, Christos; Thomas, Gilles; Broeks, Annegein; Langerod, Anita; Aparicio, Samuel; Simpson, Peter T.; van ’t Veer, Laura; Erla Eyfjörd, Jórunn; Hilmarsdottir, Holmfridur; Jonasson, Jon G.; Børresen-Dale, Anne-Lise; Lee, Ming Ta Michael; Wong, Bernice Huimin; Tan, Benita Kiat Tee; Hooijer, Gerrit K.J.

    2014-01-01

    Cancer evolves by mutation, with somatic reactivation of retrotransposons being one such mutational process. Germline retrotransposition can cause processed pseudogenes, but whether this occurs somatically has not been evaluated. Here we screen sequencing data from 660 cancer samples for somatically acquired pseudogenes. We find 42 events in 17 samples, especially non-small cell lung cancer (5/27) and colorectal cancer (2/11). Genomic features mirror those of germline LINE element retrotranspositions, with frequent target-site duplications (67%), consensus TTTTAA sites at insertion points, inverted rearrangements (21%), 5′ truncation (74%) and polyA tails (88%). Transcriptional consequences include expression of pseudogenes from UTRs or introns of target genes. In addition, a somatic pseudogene that integrated into the promoter and first exon of the tumour suppressor gene, MGA, abrogated expression from that allele. Thus, formation of processed pseudogenes represents a new class of mutation occurring during cancer development, with potentially diverse functional consequences depending on genomic context. PMID:24714652

  2. Acquire CoOmmodities Easily Card

    SciTech Connect

    Soler, E. E.

    1998-05-29

    Acquire Commodities Easily Card (AceCard) provides an automated end-user method to distribute company credit card charges to internal charge numbers. AceCard will allow cardholders to record card purchases in an on-line order log, enter multiple account distributions per order that can be posted to the General Ledger, track orders, and receipt information, and provide a variety of cardholder and administrative reports. Please note: Customers must contact Ed Soler (423)-576-6151, Lockheed Martin Energy Systems, for help with the installation of the package. The fee for this installation help will be coordinated by the customer and Lockheed Martin and is in addition to cost of the package from ESTSC. Customers should contact Sandy Presley (423)-576-4708 for user help.

  3. Acquired methaemoglobinaemia related to phenazopyridine ingestion.

    PubMed

    Shahani, Lokesh; Sattovia, Stacy

    2012-01-01

    Methaemoglobin is an altered state of haemoglobin in which the ferrous ions of haeme are oxidised to the ferric state. This results in increased affinity to the bound oxygen and decreasing its availability to tissues. Most cases of methaemoglobinaemia are acquired, resulting from an increased methaemoglobin formation by various exogenous agents. The authors report an elderly patient presenting to the emergency department with a 1-month history of shortness of breath. Around the same time she had started using over-the-counter (OTC) phenazopyridine tablets for urinary symptoms. The patient was hypoxic and cyanotic; however, lacked evidence of hypoxaemia on the arterial blood gas. The presence of abnormal haemoglobin was suspected and confirmed by elevated levels of methaemoglobin. Phenazopyridine was proposed to be the likely aetiology of the methaemoglobinaemia, which the patient was not aware of. This case highlights the importance of always inquiring the OTC drug use especially in geriatric population. PMID:22987905

  4. Acquired methaemoglobinaemia related to phenazopyridine ingestion

    PubMed Central

    Shahani, Lokesh; Sattovia, Stacy

    2012-01-01

    Methaemoglobin is an altered state of haemoglobin in which the ferrous ions of haeme are oxidised to the ferric state. This results in increased affinity to the bound oxygen and decreasing its availability to tissues. Most cases of methaemoglobinaemia are acquired, resulting from an increased methaemoglobin formation by various exogenous agents. The authors report an elderly patient presenting to the emergency department with a 1-month history of shortness of breath. Around the same time she had started using over-the-counter (OTC) phenazopyridine tablets for urinary symptoms. The patient was hypoxic and cyanotic; however, lacked evidence of hypoxaemia on the arterial blood gas. The presence of abnormal haemoglobin was suspected and confirmed by elevated levels of methaemoglobin. Phenazopyridine was proposed to be the likely aetiology of the methaemoglobinaemia, which the patient was not aware of. This case highlights the importance of always inquiring the OTC drug use especially in geriatric population. PMID:22987905

  5. Signal regulators of systemic acquired resistance

    PubMed Central

    Gao, Qing-Ming; Zhu, Shifeng; Kachroo, Pradeep; Kachroo, Aardra

    2015-01-01

    Salicylic acid (SA) is an important phytohormone that plays a vital role in a number of physiological responses, including plant defense. The last two decades have witnessed a number of breakthroughs related to biosynthesis, transport, perception and signaling mediated by SA. These findings demonstrate that SA plays a crictical role in both local and systemic defense responses. Systemic acquired resistance (SAR) is one such SA-dependent response. SAR is a long distance signaling mechanism that provides broad spectrum and long-lasting resistance to secondary infections throughout the plant. This unique feature makes SAR a highly desirable trait in crop production. This review summarizes the recent advances in the role of SA in SAR and discusses its relationship to other SAR inducers. PMID:25918514

  6. Acquiring case adaptation knowledge: A hybrid approach

    SciTech Connect

    Leake, D.B.; Kinley, A.; Wilson, D.

    1996-12-31

    The ability of case-based reasoning (CBR) systems to apply cases to novel situations depends on their case adaptation knowledge. However, endowing CBR systems with adequate adaptation knowledge has proven to be a very difficult task. This paper describes a hybrid method for performing case adaptation, using a combination of rule-based and case-based reasoning. It shows how this approach provides a framework for acquiring flexible adaptation knowledge from experiences with autonomous adaptation and suggests its potential as a basis for acquisition of adaptation knowledge from interactive user guidance. It also presents initial experimental results examining the benefits of the approach and comparing the relative contributions of case learning and adaptation learning to reasoning performance.

  7. Identification of acquired antimicrobial resistance genes

    PubMed Central

    Zankari, Ea; Hasman, Henrik; Cosentino, Salvatore; Vestergaard, Martin; Rasmussen, Simon; Lund, Ole; Aarestrup, Frank M.; Larsen, Mette Voldby

    2012-01-01

    Objectives Identification of antimicrobial resistance genes is important for understanding the underlying mechanisms and the epidemiology of antimicrobial resistance. As the costs of whole-genome sequencing (WGS) continue to decline, it becomes increasingly available in routine diagnostic laboratories and is anticipated to substitute traditional methods for resistance gene identification. Thus, the current challenge is to extract the relevant information from the large amount of generated data. Methods We developed a web-based method, ResFinder that uses BLAST for identification of acquired antimicrobial resistance genes in whole-genome data. As input, the method can use both pre-assembled, complete or partial genomes, and short sequence reads from four different sequencing platforms. The method was evaluated on 1862 GenBank files containing 1411 different resistance genes, as well as on 23 de-novo-sequenced isolates. Results When testing the 1862 GenBank files, the method identified the resistance genes with an ID = 100% (100% identity) to the genes in ResFinder. Agreement between in silico predictions and phenotypic testing was found when the method was further tested on 23 isolates of five different bacterial species, with available phenotypes. Furthermore, ResFinder was evaluated on WGS chromosomes and plasmids of 30 isolates. Seven of these isolates were annotated to have antimicrobial resistance, and in all cases, annotations were compatible with the ResFinder results. Conclusions A web server providing a convenient way of identifying acquired antimicrobial resistance genes in completely sequenced isolates was created. ResFinder can be accessed at www.genomicepidemiology.org. ResFinder will continuously be updated as new resistance genes are identified. PMID:22782487

  8. Guidelines for prevention of hospital acquired infections

    PubMed Central

    Mehta, Yatin; Gupta, Abhinav; Todi, Subhash; Myatra, SN; Samaddar, D. P.; Patil, Vijaya; Bhattacharya, Pradip Kumar; Ramasubban, Suresh

    2014-01-01

    These guidelines, written for clinicians, contains evidence-based recommendations for the prevention of hospital acquired infections Hospital acquired infections are a major cause of mortality and morbidity and provide challenge to clinicians. Measures of infection control include identifying patients at risk of nosocomial infections, observing hand hygiene, following standard precautions to reduce transmission and strategies to reduce VAP, CR-BSI, CAUTI. Environmental factors and architectural lay out also need to be emphasized upon. Infection prevention in special subsets of patients - burns patients, include identifying sources of organism, identification of organisms, isolation if required, antibiotic prophylaxis to be used selectively, early removal of necrotic tissue, prevention of tetanus, early nutrition and surveillance. Immunodeficient and Transplant recipients are at a higher risk of opportunistic infections. The post tranplant timetable is divided into three time periods for determining risk of infections. Room ventilation, cleaning and decontamination, protective clothing with care regarding food requires special consideration. Monitoring and Surveillance are prioritized depending upon the needs. Designated infection control teams should supervise the process and help in collection and compilation of data. Antibiotic Stewardship Recommendations include constituting a team, close coordination between teams, audit, formulary restriction, de-escalation, optimizing dosing, active use of information technology among other measure. The recommendations in these guidelines are intended to support, and not replace, good clinical judgment. The recommendations are rated by a letter that indicates the strength of the recommendation and a Roman numeral that indicates the quality of evidence supporting the recommendation, so that readers can ascertain how best to apply the recommendations in their practice environments. PMID:24701065

  9. Infantile and acquired nystagmus in childhood.

    PubMed

    Ehrt, Oliver

    2012-11-01

    Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation which is followed by a fast refixation saccade (jerk nystagmus) or a slow movement back to fixation (pendular nystagmus). In childhood most cases are benign forms of nystagmus: idiopathic infantile, ocular or latent nystagmus. They arise at the age of 3 months, without oscillopsia and show the absence of the physiologic opto-kinetic nystagmus. A full ophthalmologic evaluation is all that is needed in most cases: albinism, macular or optic nerve hypoplasia and congenital retinal dystrophies are the most common forms of ocular nystagmus. Idiopathic infantile nystagmus can be hereditary, the most common and best analyzed form being a mutation of the FRMD7 gene on chromosome Xq26.2. The mutation shows a mild genotype-phenotype correlation. In all female carriers the opto-kinetic nystagmus is absent and half had mild nystagmus. Latent nystagmus is part of the infantile esotropia syndrome and shows the unique feature of change of direction when the fixing eye changes: it is always beating to the side of the fixing eye. There is no cure for infantile nystagmus but therapeutic options include magnifying visual aids or eye muscle surgery at the age of 6-8 y in patients with head turn. Less than 20% of childhood nystagmus are acquired and need further neurological and imaging work-up. Alarming signs and symptoms are: onset after the age of 4 months, oscillopsia, dissociated (asymmetric) nystagmus, preserved opto-kinetic nystagmus, afferent pupillary defect, papilloedema and neurological symptoms like vertigo and nausea. The most common cause is due to pathology of the anterior optic pathway (e.g. optic nerve gliomas). It shows the same clinical feature of dissociated nystagmus as spasmus nutans but has a higher frequency as in INO. Other forms of acquired nystagmus are due to brainstem, cerebellar or metabolic diseases. PMID:22459007

  10. Clinical significance of acquired somatic mutations in aplastic anaemia.

    PubMed

    Marsh, J C W; Mufti, G J

    2016-08-01

    Aplastic anaemia (AA) is frequently associated with other disorders of clonal haemopoiesis such as paroxysmal nocturnal haemoglobinuria (PNH), myelodysplastic syndrome (MDS) and T-large granular lymphocytosis. Certain clones may escape the immune attack within the bone marrow environment and proliferate and attain a survival advantage over normal haemopoietic stem cells, such as trisomy 8, loss of heterozygosity of short arm of chromosome 6 and del13q clones. Recently acquired somatic mutations (SM), excluding PNH clones, have been reported in around 20-25 % of patients with AA, which predispose to a higher risk of later malignant transformation to MDS/acute myeloid leukaemia. Furthermore, certain SM, such as ASXL1 and DNMT3A are associated with poor survival following immunosuppressive therapy, whereas PIGA, BCOR/BCORL1 predict for good response and survival. Further detailed and serial analysis of the immune signature in AA is needed to understand the pathogenetic basis for the presence of clones with SM in a significant proportion of patients. PMID:27084249

  11. Evaluation of outliers in acquired brain MR images

    NASA Astrophysics Data System (ADS)

    Moldovanu, S.; (Vişan Pungǎ, M.; Moraru, L.

    2015-01-01

    Pre-processing is an important stage in the analysis of magnetic resonance images (MRI), because the effect of specific image artefacts, such as intensity inhomogeneity, noise and low contrast can adversely affect the quantitative image analysis. The image histogram is a useful tool in the analysis of MR images given that it allows a close relationship with important image features such as contrast and noise. The noise and variable contrast are elements that locally modify the quality of images. The key issue of this study derives from the fact that the spatial histogram can contain outliers indicating corrupted image information through the disorder of the bins. These aberrant errors should be excluded from the studied data sets. Here, the outliers are evaluated by using rigorous methods based on the probability theory and Chauvenet (CC), Grubbs (GC) and Peirce's (PC) criteria. In order to check the quality of the MR images, the Minkowsky (MD), Euclidean (ED) and cosine (CD) distance functions were used. They act as similarity scores between the histogram of the acquired MRI and the processed image. This analysis is necessary because, sometimes, the distance function exceeds the co-domain because of the outliers. In this paper, 32 MRIs are tested and the outliers are removed so that the distance functions generate uncorrupted and real values.

  12. Autoimmunity and dysmetabolism of human acquired immunodeficiency syndrome.

    PubMed

    Huang, Yan-Mei; Hong, Xue-Zhi; Xu, Jia-Hua; Luo, Jiang-Xi; Mo, Han-You; Zhao, Hai-Lu

    2016-06-01

    Acquired immunodeficiency syndrome (AIDS) remains ill-defined by lists of symptoms, infections, tumors, and disorders in metabolism and immunity. Low CD4 cell count, severe loss of body weight, pneumocystis pneumonia, and Kaposi's sarcoma are the major disease indicators. Lines of evidence indicate that patients living with AIDS have both immunodeficiency and autoimmunity. Immunodeficiency is attributed to deficits in the skin- and mucosa-defined innate immunity, CD4 T cells and regulatory T cells, presumably relating human immunodeficiency virus (HIV) infection. The autoimmunity in AIDS is evident by: (1) overproduction of autoantibodies, (2) impaired response of CD4 cells and CD8 cells, (3) failure of clinical trials of HIV vaccines, and (4) therapeutic benefits of immunosuppression following solid organ transplantation and bone marrow transplantation in patients at risk of AIDS. Autoantibodies are generated in response to antigens such as debris and molecules de novo released from dead cells, infectious agents, and catabolic events. Disturbances in metabolic homeostasis occur at the interface of immunodeficiency and autoimmunity in the development of AIDS. Optimal treatments favor therapeutics targeting on the regulation of metabolism to restore immune homeostasis. PMID:26676359

  13. [Diagnosis and treatment of hemophilia A acquired during postpartum ].

    PubMed

    Castillo-Cañadas, Ana María; Serrano-Diana, Carolina; López-Del Cerro, Esther; Gómez-García, María Teresa; González De Merlo, Gaspar

    2014-10-01

    Acquired hemophilia A is a truly exceptional hemorrhagic diathesis, that consists of the emergence of polyclonal autoantibodies (inhibitor) IgG-type (subclasses 1 and 4, in most cases) against the coagulant function of the circulating factor VIII, which acts in the domains C2, A2 and A3 of the molecule, thus interfering their interaction with the factor IXa, the phospholipids and the Von Willebrand factor. Its morbidity and mortality are high, but nevertheless its low incidence (1-1.5 cases per million population per year) is the most frequent autoimmune disorder. This paper reports the clinical case of two patients; the first one, 36 years old, who the tenth day of postpartum required re-entry due to a diagnosis of hematoma of the abdominal wall that was surgically drained twice. The patient of case 2 was 39 years old and at six days of postpartum went to the emergency room due to bleeding, she was underwent to curettage and therapeutic transfusion of 3 UCH. Because of the persistence of bleeding, which was not possible to control with medical treatment and conservative measures, therapeutic hysterectomy was performed, with blood transfusion later. Due to the hemorrhagic complications of this condition and the serious clinical consequences derived from them, it is important to establish an early diagnosis; it is therefore critical to know the existence of this very rare disease to be able to avoid its consequences. PMID:25510060

  14. Acquired Autistic Behaviors in Children with Mucopolysaccharidosis Type IIIA

    PubMed Central

    Rumsey, Robin K.; Rudser, Kyle; Delaney, Kathleen; Potegal, Michael; Whitley, Chester B.; Shapiro, Elsa

    2014-01-01

    Objective To assess autism spectrum disorder (ASD) behaviors in children with mucopolysaccharidosis Type IIIA (MPS IIIA), using a standard measure, understand the behavioral evolution of the disease, and provide specific guidelines for diagnosis. Study design Children (n=21) with documented enzyme deficiency and SGSH gene mutations, cognitive age-equivalent over 12 months, and early onset were administered the Autism Diagnostic Observation Schedule (ADOS) (Module 1) and Bayley Scales of Infant Development–III (BSID-III). ADOS Social Affect and Restricted Repetitive Behavior total scores are reported as well as BSID-III cognitive age-equivalent using descriptive statistics and graphic presentations. Results Thirteen of 21 children met ADOS criteria for ASD/autism. ADOS score was strongly associated with age; all 11 children over 46 months met criteria, and 8 of 10 under 46 months did not. Social and affective abnormalities were most frequent; restricted interests and repetitive behaviors were largely absent. Lack of cognitive growth paralleled ADOS score. Conclusions An increased incidence of autistic-like social behaviors occurred between ages 3 and 4 in children with early onset MPS IIIA. Although more frequent in the severely impaired, ASD behaviors were observed across the entire range of cognitive impairment. Clinicians must be aware that when a child acquires autistic-like behaviors, MPS IIIA should be included in the differential diagnosis. PMID:24582005

  15. Systemic lupus erythematosus complicated by acquired von Willebrand's syndrome.

    PubMed

    Hong, Sc; Lee, Jh; Chi, Hs; Lee, Ck; Nah, Ss; Kim, Yg; Oh, Js; Moon, Hb; Yoo, B

    2008-09-01

    Haematological abnormalities are common in systemic lupus erythematosus (SLE). In some cases of acquired von Willebrand syndrome (AvWS), von Willebrand disease (vWD) is associated with autoimmune or lymphoproliferative disorders. In this study, we describe a 36-year-old woman with SLE and AvWS. The patient was referred to our hospital because of easy bruisability and recurrent vaginal bleeding. She had no history of bleeding tendency and no family history of bleeding diathesis, but she had a history of recurrent arthralgia, photosensitivity and sicca symptoms. Tests for antinuclear, anti-double stranded DNA, anticardiolipin and anti-beta2-glycoprotein I antibodies were all positive. Analysis of haemostatic parameters showed complete absence of von Willebrand factor ristocetin cofactor (vWF:Rco), von Willebrand antigen (vWF:Ag) and ristocetin-induced platelet aggregation (RIPA). Electrophoretic analysis of plasma showed a complete absence of high-molecular weight vWF multimer. The presence of antibody to vWF was detected by enzyme linked immunosorbent assay (ELISA). Treatment with corticosteroids improved SLE symptoms and corrected bleeding diasthesis. Also, the multimeric patterns of vWF became normalised and anti-vWF antibody disappeared. These findings indicated that this patient had SLE associated with AvWS, which was ameliorated by corticosteroid treatment. PMID:18755868

  16. Postmodern Stress Disorder (PMSD): A Possible New Disorder.

    PubMed

    Eiser, Arnold R

    2015-11-01

    The murder of cardiovascular surgeon, Michael Davidson, MD, suggests the existence of a new disorder, postmodern stress disorder. This disorder is characterized by repetitive exposure to digital images of violence in a variety of electronic media, including films, television, video games, music videos, and other online sources. This disorder appears to be a variant of posttraumatic stress disorder, and shares with it excessive stimulation of the amygdala and loss of the normal inhibitory inputs from the orbitofrontal cingulate cortical gyrus. In postmodern stress disorder, repetitive digital microtraumas appear to have an effect similar to that of macrotraumas of warfare or civilian assaults. Other elements of the disorder include the development of fixed ideas of bullying or public shaming, access to weapons, and loss of impulse control. This syndrome could explain a number of previously inexplicable murders/suicides. Violence against health care professionals is a profound concern for the medical profession, as are assaults on nonclinicians. The recommendation is made to change forensic procedures to include obtaining historic information concerning the use of digital media during investigations of violent crimes and murders so that the disorder may be further characterized. Gaining an understanding of this disorder will require a multidisciplinary approach to this life-threatening public health problem. Research should also focus on the development and evaluation of possible antidotes to postmodern toxicities. PMID:26031889

  17. Disorders of Erythrocyte Volume Homeostasis

    PubMed Central

    Glogowska, Edyta; Gallagher, Patrick G.

    2015-01-01

    Inherited disorders of erythrocyte volume homeostasis are a heterogeneous group of rare disorders with phenotypes ranging from dehydrated to overhydrated erythrocytes. Clinical, laboratory, physiologic, and genetic heterogeneity characterize this group of disorders. A series of recent reports have provided novel insights into our understanding of the genetic bases underlying some of these disorders of red cell volume regulation. This report reviews this progress in understanding determinants that influence erythrocyte hydration and how they have yielded a better understanding of the pathways that influence cellular water and solute homeostasis. PMID:25976965

  18. The joint influence of acquired capability for suicide and stoicism on over-exercise among women.

    PubMed

    Smith, April R; Yeager, Aimee E; Dodd, Dorian R

    2015-04-01

    We investigated longitudinal relationships among eating disorder behaviors, stoicism, and the acquired capability for suicide (ACS), which is a construct comprised of pain tolerance and fearlessness about death. University students (n=150) completed assessments measuring stoicism, ACS, and eating disorder behaviors at two time points approximately 30days apart. Among women, there was a quadratic relationship between ACS and over-exercise behaviors, such that as ACS increased the positive association between ACS and over-exercise became more pronounced. Further, among women, ACS moderated the relationship between stoicism and over-exercise, such that high levels of ACS in combination with stoicism predicted increases in over-exercise. Results suggest that ACS in combination with stoicism may lead women to engage in more eating disordered behaviors, like over-exercise. PMID:25617594

  19. Characterizing Intonation Deficit in Motor Speech Disorders: An Autosegmental-Metrical Analysis of Spontaneous Speech in Hypokinetic Dysarthria, Ataxic Dysarthria, and Foreign Accent Syndrome

    ERIC Educational Resources Information Center

    Lowit, Anja; Kuschmann, Anja

    2012-01-01

    Purpose: The autosegmental-metrical (AM) framework represents an established methodology for intonational analysis in unimpaired speaker populations but has found little application in describing intonation in motor speech disorders (MSDs). This study compared the intonation patterns of unimpaired participants (CON) and those with Parkinson's…

  20. Gastrointestinal Motility Disorders in Children

    PubMed Central

    Ambartsumyan, Lusine

    2014-01-01

    The most common and challenging gastrointestinal motility disorders in children include gastroesophageal reflux disease (GERD), esophageal achalasia, gastroparesis, chronic intestinal pseudo-obstruction, and constipation. GERD is the most common gastrointestinal motility disorder affecting children and is diagnosed clinically and treated primarily with acid secretion blockade. Esophageal achalasia, a less common disorder in the pediatric patient population, is characterized by dysphagia and treated with pneumatic balloon dilation and/or esophagomyotomy. Gastroparesis and chronic intestinal pseudo-obstruction are poorly characterized in children and are associated with significant morbidity. Constipation is among the most common complaints in children and is associated with significant morbidity as well as poor quality of life. Data on epidemiology and outcomes, clinical trials, and evaluation of new diagnostic techniques are needed to better diagnose and treat gastrointestinal motility disorders in children. We present a review of the conditions and challenges related to these common gastrointestinal motility disorders in children. PMID:24799835

  1. Eating disorders.

    PubMed

    Rome, Ellen S

    2003-06-01

    Anorexia nervosa, bulimia nervosa, and eating disorders not otherwise specified remain a significant cause of morbidity and mortality in girls and young women. Management of eating disorders typically requires a multidisciplinary team approach, often spear-headed by the clinician initially detecting the illness. This article addresses the definitions and prevalence of eating disorders, tips on recognition and management of medical complications, and reproductive health concerns for these young women. Issues surrounding care of the patient with the female athlete triad, or amenorrhea, osteopenia, and eating disorders, are also discussed. PMID:12836725

  2. Eosinophilic Disorders

    MedlinePlus

    ... parasites , particularly ones that invade tissue, cause eosinophilia. Cancers that cause eosinophilia include Hodgkin lymphoma , leukemia , and myeloproliferative disorders . If the number of eosinophils is only ...

  3. [Endocrine disorders and osteoporosis].

    PubMed

    Kinoshita, Yuka

    2015-10-01

    Secondary osteoporosis is a bone disease characterized by decreased bone mass that predisposes fractures due to underlying disorders or medication. Disorders of the endocrine system, such as primary hyperparathyroidism, hyperthyroidism, hypogonadism, growth hormone deficiency, Cushing's syndrome, and anorexia nervosa frequently cause secondary osteoporosis. In those diseases, hormone excess or deficiency affects functions of osteoblasts, osteocyte, and osteoclasts, leading to aberrant bone remodeling. Bisphosphonates are the first-choice pharmacological agents for fracture prevention in most patients with secondary osteoporosis along with treatment of the underlying disease. PMID:26529938

  4. Brain structure-function associations in multi-generational families genetically enriched for bipolar disorder.

    PubMed

    Fears, Scott C; Schür, Remmelt; Sjouwerman, Rachel; Service, Susan K; Araya, Carmen; Araya, Xinia; Bejarano, Julio; Knowles, Emma; Gomez-Makhinson, Juliana; Lopez, Maria C; Aldana, Ileana; Teshiba, Terri M; Abaryan, Zvart; Al-Sharif, Noor B; Navarro, Linda; Tishler, Todd A; Altshuler, Lori; Bartzokis, George; Escobar, Javier I; Glahn, David C; Thompson, Paul M; Lopez-Jaramillo, Carlos; Macaya, Gabriel; Molina, Julio; Reus, Victor I; Sabatti, Chiara; Cantor, Rita M; Freimer, Nelson B; Bearden, Carrie E

    2015-07-01

    Recent theories regarding the pathophysiology of bipolar disorder suggest contributions of both neurodevelopmental and neurodegenerative processes. While structural neuroimaging studies indicate disease-associated neuroanatomical alterations, the behavioural correlates of these alterations have not been well characterized. Here, we investigated multi-generational families genetically enriched for bipolar disorder to: (i) characterize neurobehavioural correlates of neuroanatomical measures implicated in the pathophysiology of bipolar disorder; (ii) identify brain-behaviour associations that differ between diagnostic groups; (iii) identify neurocognitive traits that show evidence of accelerated ageing specifically in subjects with bipolar disorder; and (iv) identify brain-behaviour correlations that differ across the age span. Structural neuroimages and multi-dimensional assessments of temperament and neurocognition were acquired from 527 (153 bipolar disorder and 374 non-bipolar disorder) adults aged 18-87 years in 26 families with heavy genetic loading for bipolar disorder. We used linear regression models to identify significant brain-behaviour associations and test whether brain-behaviour relationships differed: (i) between diagnostic groups; and (ii) as a function of age. We found that total cortical and ventricular volume had the greatest number of significant behavioural associations, and included correlations with measures from multiple cognitive domains, particularly declarative and working memory and executive function. Cortical thickness measures, in contrast, showed more specific associations with declarative memory, letter fluency and processing speed tasks. While the majority of brain-behaviour relationships were similar across diagnostic groups, increased cortical thickness in ventrolateral prefrontal and parietal cortical regions was associated with better declarative memory only in bipolar disorder subjects, and not in non-bipolar disorder family

  5. Brain structure–function associations in multi-generational families genetically enriched for bipolar disorder

    PubMed Central

    Schür, Remmelt; Sjouwerman, Rachel; Service, Susan K.; Araya, Carmen; Araya, Xinia; Bejarano, Julio; Knowles, Emma; Gomez-Makhinson, Juliana; Lopez, Maria C.; Aldana, Ileana; Teshiba, Terri M.; Abaryan, Zvart; Al-Sharif, Noor B.; Navarro, Linda; Tishler, Todd A.; Altshuler, Lori; Bartzokis, George; Escobar, Javier I.; Glahn, David C.; Thompson, Paul M.; Lopez-Jaramillo, Carlos; Macaya, Gabriel; Molina, Julio; Reus, Victor I.; Sabatti, Chiara; Cantor, Rita M.; Freimer, Nelson B.; Bearden, Carrie E.

    2015-01-01

    Recent theories regarding the pathophysiology of bipolar disorder suggest contributions of both neurodevelopmental and neurodegenerative processes. While structural neuroimaging studies indicate disease-associated neuroanatomical alterations, the behavioural correlates of these alterations have not been well characterized. Here, we investigated multi-generational families genetically enriched for bipolar disorder to: (i) characterize neurobehavioural correlates of neuroanatomical measures implicated in the pathophysiology of bipolar disorder; (ii) identify brain–behaviour associations that differ between diagnostic groups; (iii) identify neurocognitive traits that show evidence of accelerated ageing specifically in subjects with bipolar disorder; and (iv) identify brain–behaviour correlations that differ across the age span. Structural neuroimages and multi-dimensional assessments of temperament and neurocognition were acquired from 527 (153 bipolar disorder and 374 non-bipolar disorder) adults aged 18–87 years in 26 families with heavy genetic loading for bipolar disorder. We used linear regression models to identify significant brain–behaviour associations and test whether brain–behaviour relationships differed: (i) between diagnostic groups; and (ii) as a function of age. We found that total cortical and ventricular volume had the greatest number of significant behavioural associations, and included correlations with measures from multiple cognitive domains, particularly declarative and working memory and executive function. Cortical thickness measures, in contrast, showed more specific associations with declarative memory, letter fluency and processing speed tasks. While the majority of brain–behaviour relationships were similar across diagnostic groups, increased cortical thickness in ventrolateral prefrontal and parietal cortical regions was associated with better declarative memory only in bipolar disorder subjects, and not in non

  6. 7 CFR 1779.90 - Disposition of acquired property.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 7 Agriculture 12 2012-01-01 2012-01-01 false Disposition of acquired property. 1779.90 Section..., DEPARTMENT OF AGRICULTURE (CONTINUED) WATER AND WASTE DISPOSAL PROGRAMS GUARANTEED LOANS § 1779.90 Disposition of acquired property. (a) General. When the lender acquires title to the collateral and the...

  7. 7 CFR 1779.90 - Disposition of acquired property.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 7 Agriculture 12 2013-01-01 2013-01-01 false Disposition of acquired property. 1779.90 Section..., DEPARTMENT OF AGRICULTURE (CONTINUED) WATER AND WASTE DISPOSAL PROGRAMS GUARANTEED LOANS § 1779.90 Disposition of acquired property. (a) General. When the lender acquires title to the collateral and the...

  8. 7 CFR 1779.90 - Disposition of acquired property.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 7 Agriculture 12 2014-01-01 2013-01-01 true Disposition of acquired property. 1779.90 Section 1779..., DEPARTMENT OF AGRICULTURE (CONTINUED) WATER AND WASTE DISPOSAL PROGRAMS GUARANTEED LOANS § 1779.90 Disposition of acquired property. (a) General. When the lender acquires title to the collateral and the...

  9. Preschoolers Acquire General Knowledge by Sharing in Pretense

    ERIC Educational Resources Information Center

    Sutherland, Shelbie L.; Friedman, Ori

    2012-01-01

    Children acquire general knowledge about many kinds of things, but there are few known means by which this knowledge is acquired. In this article, it is proposed that children acquire generic knowledge by sharing in pretend play. In Experiment 1, twenty-two 3- to 4-year-olds watched pretense in which a puppet represented a "nerp" (an unfamiliar…

  10. 19 CFR 148.38 - Sale of articles acquired abroad.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 19 Customs Duties 2 2012-04-01 2012-04-01 false Sale of articles acquired abroad. 148.38 Section... § 148.38 Sale of articles acquired abroad. An article brought in under the $800 or $1,600 exemption for articles acquired abroad for personal or household use and subsequently sold is not dutiable or subject...

  11. 19 CFR 148.38 - Sale of articles acquired abroad.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 19 Customs Duties 2 2013-04-01 2013-04-01 false Sale of articles acquired abroad. 148.38 Section... § 148.38 Sale of articles acquired abroad. An article brought in under the $800 or $1,600 exemption for articles acquired abroad for personal or household use and subsequently sold is not dutiable or subject...

  12. 7 CFR 770.8 - Use of acquired land.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 7 2010-01-01 2010-01-01 false Use of acquired land. 770.8 Section 770.8 Agriculture... SPECIAL PROGRAMS INDIAN TRIBAL LAND ACQUISITION LOANS § 770.8 Use of acquired land. (a) General. Subject to § 770.5(d) land acquired with loan funds, or other property serving as the security for a...

  13. 7 CFR 1779.90 - Disposition of acquired property.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 7 Agriculture 12 2011-01-01 2011-01-01 false Disposition of acquired property. 1779.90 Section..., DEPARTMENT OF AGRICULTURE (CONTINUED) WATER AND WASTE DISPOSAL PROGRAMS GUARANTEED LOANS § 1779.90 Disposition of acquired property. (a) General. When the lender acquires title to the collateral and the...

  14. 7 CFR 1779.90 - Disposition of acquired property.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 12 2010-01-01 2010-01-01 false Disposition of acquired property. 1779.90 Section..., DEPARTMENT OF AGRICULTURE (CONTINUED) WATER AND WASTE DISPOSAL PROGRAMS GUARANTEED LOANS § 1779.90 Disposition of acquired property. (a) General. When the lender acquires title to the collateral and the...

  15. 43 CFR 4110.1-1 - Acquired lands.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 43 Public Lands: Interior 2 2013-10-01 2013-10-01 false Acquired lands. 4110.1-1 Section 4110.1-1... and Preference § 4110.1-1 Acquired lands. Where lands have been acquired by the Bureau of Land... of acquisition by the Bureau of Land Management, and are not subject to the requirements of § 4110.1....

  16. 19 CFR 148.38 - Sale of articles acquired abroad.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 2 2011-04-01 2011-04-01 false Sale of articles acquired abroad. 148.38 Section... § 148.38 Sale of articles acquired abroad. An article brought in under the $800 or $1,600 exemption for articles acquired abroad for personal or household use and subsequently sold is not dutiable or subject...

  17. 19 CFR 148.38 - Sale of articles acquired abroad.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 2 2010-04-01 2010-04-01 false Sale of articles acquired abroad. 148.38 Section... § 148.38 Sale of articles acquired abroad. An article brought in under the $800 or $1,600 exemption for articles acquired abroad for personal or household use and subsequently sold is not dutiable or subject...

  18. [Hemorrhagic disorders in pregnancy].

    PubMed

    Ludwig, H

    1999-10-01

    When bleeding disorders coincide with pregnancy, they might be congenital or acquired diseases, if not arising as a more acute complication of the pregnancy itself. The paper gives a review of the most common bleeding disorders out of internal medical constellations. History taking is the most effective way to open the diagnostic approach. If childbearing is desired the couple in question should be counselled accordingly in collaboration with a hematologist. Some conditions might be unfavourable, e.g. hemophila in male offspring, others might be serious but manageable, as in v. Willebrand-Disease or autoimmunologic thrombocytopenic purpura. Prenatal invasive diagnostics with fetal blood sampling at an early stage of pregnancy may reduce the hazards for the baby insofar, as it allows the more precise estimation of fetal risks at birth. Cesarean section will not in all cases be the way of choice (e.g. in v. Willebrand-Disease), in others it might be the better way to deliver a fetus at risk in order to avoid intracranial hemorrhage (in severe cases of ITP). Always both, mother and fetus, are at risk, but almost in any cases in different shades and grades of severeness. There is rarely a firm correlation of the maternal and the fetal hemostatic parameters in cases of connatal or acquired hemorrhagic disorders. Pregnancy itself leads to a certain compensation of defects in clotting factors, since the synthesis of factors increase or they are circulating more in activated form. Pregnancy is a state of a silently ongoing intravascular coagulation at least in the uteroplacental circulation. From there it is linked with the general circulation of the maternal organism. When immunologic etiologies in thrombocytopenias play a role, there will always be the incalculable rate of placental transfer of antiplatelet-antibodies to the fetus. The entire field requires knowledge, counseling, collaboration and foresight. PMID:10549234

  19. Wernicke's Encephalopathy: An Unusual Consequence of the Acquired Immune Deficiency Syndrome—Case Report and Literature Review

    PubMed Central

    Larsen, Timothy R.; Williams, Michael

    2013-01-01

    Introduction. Wernicke's encephalopathy is a well-described syndrome characterized by the classic triad of confusion, ataxia, and ophthalmoplegia. Wernicke's encephalopathy results from thiamine (vitamin B1) deficiency. Common causes include alcoholism and gastric disorders. Wernicke's has been described in patients with acquired immune deficiency syndrome (AIDS); however, given these patients' immunosuppressed state, the diagnosis of Wernicke's encephalopathy is not apparent. Case Presentation. A 31-year-old previously healthy male presented to the ER complaining of progressive dyspnea. Workup revealed HIV/AIDS and PCP pneumonia. He was treated and improved. On day 14 he became confused and developed nystagmus and ataxia. Considering his immunocompromised state, infectious and neoplastic etiologies topped the differential diagnosis. CT head was negative. Lumbar puncture was unremarkable. Brain MRI revealed increased T2 signal in the medial thalamus bilaterally. Intravenous thiamine was administered resulting in resolution of symptoms. Discussion. The classic triad of Wernicke's encephalopathy occurs in 10% of cases. When immunosuppressed patients develop acute neurologic symptoms infectious or neoplastic etiologies must be excluded. However, given the relative safety of thiamine supplementation, there should be a low threshold for initiating therapy in order to reverse the symptoms and prevent progression to Korsakoff dementia, which is permanent. PMID:23935638

  20. Wernicke's Encephalopathy: An Unusual Consequence of the Acquired Immune Deficiency Syndrome-Case Report and Literature Review.

    PubMed

    Larsen, Timothy R; Dragu, Dritan; Williams, Michael

    2013-01-01

    Introduction. Wernicke's encephalopathy is a well-described syndrome characterized by the classic triad of confusion, ataxia, and ophthalmoplegia. Wernicke's encephalopathy results from thiamine (vitamin B1) deficiency. Common causes include alcoholism and gastric disorders. Wernicke's has been described in patients with acquired immune deficiency syndrome (AIDS); however, given these patients' immunosuppressed state, the diagnosis of Wernicke's encephalopathy is not apparent. Case Presentation. A 31-year-old previously healthy male presented to the ER complaining of progressive dyspnea. Workup revealed HIV/AIDS and PCP pneumonia. He was treated and improved. On day 14 he became confused and developed nystagmus and ataxia. Considering his immunocompromised state, infectious and neoplastic etiologies topped the differential diagnosis. CT head was negative. Lumbar puncture was unremarkable. Brain MRI revealed increased T2 signal in the medial thalamus bilaterally. Intravenous thiamine was administered resulting in resolution of symptoms. Discussion. The classic triad of Wernicke's encephalopathy occurs in 10% of cases. When immunosuppressed patients develop acute neurologic symptoms infectious or neoplastic etiologies must be excluded. However, given the relative safety of thiamine supplementation, there should be a low threshold for initiating therapy in order to reverse the symptoms and prevent progression to Korsakoff dementia, which is permanent. PMID:23935638

  1. Bipolar Disorder

    MedlinePlus

    ... or digestive problems Problems sleeping, or wanting to sleep all of the time Feeling tired all of the time Thoughts about death and suicide Causes & Risk Factors What causes bipolar disorder? Bipolar disorder may be caused by a chemical imbalance in the brain. It sometimes runs in ...

  2. Anxiety Disorders

    ERIC Educational Resources Information Center

    Klein, Rachel G.

    2009-01-01

    Because of their high prevalence and their negative long-term consequences, child anxiety disorders have become an important focus of interest. Whether pathological anxiety and normal fear are similar processes continues to be controversial. Comparative studies of child anxiety disorders are scarce, but there is some support for the current…

  3. Anxiety Disorders.

    ERIC Educational Resources Information Center

    Dickey, Marilyn

    Anxiey, in general, helps one to cope. It rouses a person to action and gears one up to face a threatening situation. It makes students study harder for exams, and keeps presenters on their toes when making speeches. But an anxiety disorder can prevent one from coping and can disrupt daily life. Anxiety disorders are not just a case of "nerves,"…

  4. EATING DISORDERS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anorexia nervosa (AN) and bulimia nervosa (BN) are complex disorders that are often perplexing to therapists and difficult to manage. The purpose of this chapter is to review the history, nature, etiology, and treatment of these disorders, as well as to provide a brief introduction to the proposed d...

  5. Tips to diagnose uncommon nail disorders.

    PubMed

    Schneider, Samantha L; Tosti, Antonella

    2015-04-01

    This article reviews 6 nail disorders that, although easy to diagnose, are misdiagnosed frequently by dermatologists and general practitioners. Diagnostic clues are emphasized to familiarize readers with features that indicate the correct diagnosis. We focus on two common tumors (onychomatricoma and onychopapilloma), two rare genetic conditions that can be diagnosed owing to nail changes (Darier disease and nail patella syndrome), and two uncommon acquired disorders (the yellow nail syndrome and lichen striatus). PMID:25828712

  6. Intrinsic disorder in transcription factors†

    PubMed Central

    Liu, Jiangang; Perumal, Narayanan B.; Oldfield, Christopher J.; Su, Eric W.; Uversky, Vladimir N.; Dunker, A. Keith

    2008-01-01

    Intrinsic disorder (ID) is highly abundant in eukaryotes, which reflect the greater need for disorder-associated signaling and transcriptional regulation in nucleated cells. Although several well-characterized examples of intrinsically disordered proteins in transcriptional regulation have been reported, no systematic analysis has been reported so far. To test for a general prevalence of intrinsic disorder in transcriptional regulation, we used the Predictor Of Natural Disorder Regions (PONDR) to analyze the abundance of intrinsic disorder in three transcription factor datasets and two control sets. This analysis revealed that from 94.13% to 82.63% of transcription factors posses extended regions of intrinsic disorder, relative to 54.51% and 18.64% of the proteins in two control datasets, which indicates the significant prevalence of intrinsic disorder in transcription factors. This propensity of transcription factors for intrinsic disorder was confirmed by cumulative distribution function analysis and charge-hydropathy plots. The amino acid composition analysis showed that all three transcription factor datasets were substantially depleted in order-promoting residues, and significantly enriched in disorder-promoting residues. Our analysis of the distribution of disorder within the transcription factor datasets revealed that: (a) The AT-hooks and basic regions of transcription factor DNA-binding domains are highly disordered; (b) The degree of disorder in transcription factor activation regions is much higher than that in DNA-binding domains; (c) The degree of disorder is significantly higher in eukaryotic transcription factors than in prokaryotic transcription factors; (d) The level of α-MoRFs (molecular recognition feature) prediction is much higher in transcription factors. Overall, our data reflected the fact that the eukaryotes with well-developed gene transcription machinery require transcription factor flexibility to be more efficient. PMID:16734424

  7. Breast Cancer as an Acquired Thrombophilic State

    PubMed Central

    2012-01-01

    Cancer is an acquired thrombophilic condition manifested by increased incidence of venous and arterial thromboembolic complications. Despite progress that has been achieved in treatments over the recent years, thromboembolism remains a major complication in patients with breast cancer; it is accompanied by significant morbidity and mortality. Approximately, 1% of breast cancer patients develop venous thromboembolism within 2 years with the highest incidence occurring in the 6 months post diagnosis. Metastatic disease and their comorbidities are the strongest predictors of the development of thrombotic event. The diagnosis of venous thromboembolism is associated with a higher risk of death within 2 years of diagnosis. Thromboembolic events in cancer patients range from abnormal laboratory coagulation tests without specific symptoms to massive thomboembolism and disseminated intravascular coagulation. The underlying pathophysiology is complex and includes the prothrombotic properties of cancer cells, which can be enhanced by anticancer treatment modalities, such as surgery, hormonal agents, and chemotherapy. Primary thromboprophylaxis in cancer patients should be individualized according to risk. For secondary prevention, several clinical studies have shown that low molecular weight heparin has improved patients' compliance, cancer outcomes and overall survival. This review summarizes the available data on the pathogenesis and clinical approach of hemostatic changes in breast cancer. PMID:22807931

  8. Community-acquired Pneumonia and its Complications.

    PubMed

    Qin, Qiang; Shen, Kun-ling

    2015-08-01

    Community-acquired pneumonia (CAP) remains a major cause of morbidity and mortality worldwide in developing and developed countries, and its incidence is highest among children less than 5-y-old. Over the last five years, several international and local guidelines have been updated with new evidence concerning the epidemiology, etiology, pathogenesis, treatment and prevention of pediatric CAP, but there are still several major problems that need to be standardised. The aim of this review is to consider the available data concerning the termination, epidemiology, microbiology and pathogenesis, clinical features, diagnosis and differential diagnosis, treatment, and complications of pediatric CAP. There still are many unanswered questions concerning the management of CAP, including its definition, the difficulty to identify its etiological agents, the emergence of drug, and the lack of introduction of vaccines against respiratory pathogens in developing countries. More research is required in various areas (including therapy of atypical agents), and further efforts are needed to increase vaccination in order to reduce the incidence of the disease. PMID:25976616

  9. Natural and acquired macrolide resistance in mycobacteria.

    PubMed

    Doucet-Populaire, F; Buriánková, K; Weiser, J; Pernodet, J-L

    2002-12-01

    The genus Mycobacterium contains two of the most important human pathogens, Mycobacterium tuberculosis and Mycobacterium leprae, the etiologic agents of tuberculosis and leprosy, respectively. Other mycobacteria are mostly saprophytic organisms, living in soil and water, but some of them can cause opportunistic infections. The increasing incidence of tuberculosis as well as infections with non-tuberculous mycobacteria (NTM) in AIDS patients has renewed interest in molecular mechanisms of drug resistance in these pathogens. Mycobacteria show a high degree of intrinsic resistance to most common antibiotics. For instance, species from the M. tuberculosis complex (MTC) are intrinsically resistant to macrolides. Nevertheless, some semi-synthetic macrolides as the erythromycin derivatives clarithromycin, azithromycin and most recently the ketolides, are active against NTM, particularly Mycobacterium avium, and some of them are widely used for infection treatment. However, shortly after the introduction of these new drugs, resistant strains appeared due to mutations in the macrolide target, the ribosome. The mycobacterial cell wall with its specific composition and structure is considered to be a major factor in promoting the natural resistance of mycobacteria to various antibiotics. However, to explain the difference in macrolide sensitivity between the MTC and NTM, the synergistic contribution of a specific resistance mechanism might be required, in addition to possible differences in cell wall permeability. This mini-review summarizes the current knowledge on the natural and acquired macrolide resistance in mycobacteria, gives an overview of potential mechanisms implicated in the intrinsic resistance and brings recent data concerning a macrolide resistance determinant in the MTC. PMID:12570741

  10. Community-acquired pneumonia among smokers.

    PubMed

    Almirall, Jordi; Blanquer, José; Bello, Salvador

    2014-06-01

    Recent studies have left absolutely no doubt that tobacco increases susceptibility to bacterial lung infection, even in passive smokers. This relationship also shows a dose-response effect, since the risk reduces spectacularly 10 years after giving up smoking, returning to the level of non-smokers. Streptococcus pneumoniae is the causative microorganism responsible for community-acquired pneumonia (CAP) most frequently associated with smoking, particularly in invasive pneumococcal disease and septic shock. It is not clear how it acts on the progress of pneumonia, but there is evidence to suggest that the prognosis for pneumococcal pneumonia is worse. In CAP caused by Legionella pneumophila, it has also been observed that smoking is the most important risk factor, with the risk rising 121% for each pack of cigarettes smoked a day. Tobacco use may also favor diseases that are also known risk factors for CAP, such as periodontal disease and upper respiratory viral infections. By way of prevention, while giving up smoking should always be proposed, the use of the pneumococcal vaccine is also recommended, regardless of the presence of other comorbidities. PMID:24387877

  11. The acquired immunodeficiency syndrome: an ultrastructural study.

    PubMed

    Sidhu, G S; Stahl, R E; el-Sadr, W; Cassai, N D; Forrester, E M; Zolla-Pazner, S

    1985-04-01

    Blood and a variety of tissues from 97 patients with the acquired immunodeficiency syndrome (AIDS) and 25 with the AIDS prodrome were studied ultrastructurally. Tubuloreticular structures (TRS) were found in 85 per cent of the patients with AIDS and in 92 per cent of those with the prodrome. Test tube and ring-shaped forms (TRF), found in 41 per cent of the patients with AIDS and in 8 per cent of those with the prodrome, increased with disease progression. Among the patients with AIDS, as the number of sites examined per case increased, the incidence of TRS and TRF tended to approach 100 per cent, suggesting that they are present in all patients with AIDS. Other changes seen frequently were immunologic capping of blood lymphocytes, intramitochondrial iron in blood reticulocytes and marrow normoblasts, megakaryocytic immaturity and platelet phagocytosis, collections of membranous rings in hepatocytic cytoplasm, suggestive of non-A, non-B hepatitis, and proliferations and engorgement of hepatic Ito cells with lipid. The data suggest that TRS and TRF can be used as diagnostic and prognostic markers. PMID:3872253

  12. Gastrointestinal Manifestations of the Acquired Immunodeficiency Syndrome

    PubMed Central

    Rodgers, Vance D.; Kagnoff, Martin F.

    1987-01-01

    In addition to abnormalities in systemic immune function, patients with the acquired immunodeficiency syndrome (AIDS) and the pre-AIDS syndromes have significant abnormalities in the distribution of T-cell subsets in the intestinal tract. Such immune deficits predispose such patients to opportunistic infections and tumors, many of which involve the gastrointestinal tract. For example, Candida albicans often causes stomatitis and esophagitis. Intestinal infections with parasites (Cryptosporidium, Isospora belli, Microsporidia) or bacteria (Mycobacterium avium-intracellulare) are associated with severe diarrhea and malabsorption, whereas viruses like cytomegalovirus and herpes simplex virus cause mucosal ulcerations. Clinically debilitating chronic diarrhea develops in many AIDS patients for which no clear cause can be identified. Enteric pathogens like Salmonella and Campylobacter can be associated with bacteremias. Kaposi's sarcoma and lymphoma involving the intestinal tract are now well-recognized complications of AIDS. Although AIDS is not associated with a pathognomonic liver lesion, opportunistic infections and Kaposi's sarcoma or lymphoma may involve the liver. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7. PMID:3825111

  13. Urgent operation for acquired ventricular septal defect.

    PubMed Central

    Thomas, C S; Alford, W C; Burrus, G R; Glassford, D M; Stoney, W S

    1982-01-01

    Recent experience suggests that ventricular septal defect (VSD) secondary to myocardial infarction constitutes an indication for urgent operation. Acquired VSD at St. Thomas Hospital, Nashville, was reviewed to substantiate the obsolescence of protracted medical therapy designed to allow a late, technically less demanding, repair. Twenty-two acute VSDs (less than four weeks following onset of murmur) have been treated since 1970. Five patients died during medical therapy. Two patients survived for more than four weeks without operation. One never manifested significant cardiac decompensation. The other was operated on at 33 days, after progressive deterioration. No technical advantage from the delay was apparent, although survival was achieved. Ten of 15 patients (67%) operated on during the first four weeks survived. Fourteen had reached a level of marked instability prior to operation. Of the five deaths, four were technical and were the product of an initial lack of recognition of the necessity for patch replacement of the interventricular septum. The prosthetic patch is now considered essential to minimize suture-line stress in necrotic muscle. Potentially, only one of 15 patients operated on early using current methods would have expired. This experience supports an aggressive surgical approach to any unstable patient with postinfarction VSD. Early repair requires specific techniques. Results of early operation using these techniques are dramatically superior to past efforts designed to delay definitive repair. PMID:7082062

  14. Targeting signaling pathways with small molecules to treat autoimmune disorders.

    PubMed

    Kaminska, Bozena; Swiatek-Machado, Karolina

    2008-01-01

    Chronic activation of immune responses, mediated by inflammatory mediators and involving different effector cells of the innate and acquired immune system characterizes autoimmune disorders, such as rheumatoid arthritis, inflammatory bowel disease, psoriasis and septic shock syndrome. MAPKs are crucial intracellular mediators of inflammation. MAPK inhibitors are attractive anti-inflammatory drugs, because they are capable of reducing the synthesis of inflammation mediators at multiple levels and are effective in blocking proinflammatory cytokine signaling. Janus kinase (JAK)/signal transducers and activators of transcription (STAT) pathway converts cytokine signals into genomic responses regulating proliferation and differentiation of the immune cells. JAK inhibitors are a new class of immunomodulatory agents with immunosuppressive, anti-inflammatory and antiallergic properties. This review discusses the rationale behind current strategies of targeting MAPK and JAK/STAT signaling pathways, and the overall effects of signal transduction inhibitors in animal models of inflammatory disorders. Signal transduction inhibitors are small molecules that can be administered orally, and initial results of clinical trials have shown clinical benefits in patients with chronic inflammatory disorders. PMID:20477590

  15. Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

    PubMed

    Tonduti, Davide; Chiapparini, Luisa; Moroni, Isabella; Ardissone, Anna; Zorzi, Giovanna; Zibordi, Federica; Raspante, Sergio; Panteghini, Celeste; Garavaglia, Barbara; Nardocci, Nardo

    2016-06-01

    Neostriatal abnormalities can be observed in a very large number of neurological conditions clinically dominated by the presence of movement disorders. The neuroradiological picture in some cases has been described as "bilateral striatal necrosis" (BSN). BSN represents a condition histo-pathologically defined by the involvement of the neostriata and characterized by initial swelling of putamina and caudates followed by degeneration and cellular necrosis. After the first description in 1975, numerous acquired and hereditary conditions have been associated with the presence of BSN. At the same time, a large number of disorders involving neostriata have been described as BSN, in some cases irrespective of the presence of signs of cavitation on MRI. As a consequence, the etiological spectrum and the nosographic boundaries of the syndrome have progressively become less clear. In this study, we review the clinical and radiological features of the conditions associated with MRI evidence of bilateral striatal lesions. Based on MRI findings, we have distinguished two groups of disorders: BSN and other neostriatal lesions (SL). This distinction is extremely helpful in narrowing the differential diagnosis to a small group of known conditions. The clinical picture and complementary exams will finally lead to the diagnosis. We provide an update on the etiological spectrum of BSN and propose a diagnostic flowchart for clinicians. PMID:27074771

  16. Obsessive-compulsive disorder, impulse control disorders and drug addiction: common features and potential treatments.

    PubMed

    Fontenelle, Leonardo F; Oostermeijer, Sanne; Harrison, Ben J; Pantelis, Christos; Yücel, Murat

    2011-05-01

    The basic concepts underlying compulsive, impulsive and addictive behaviours overlap, which may help explain why laymen use these expressions interchangeably. Although there has been a large research effort to better characterize and disentangle these behaviours, clinicians and scientists are still unable to clearly differentiate them. Accordingly, obsessive-compulsive disorder (OCD), impulse control disorders (ICD) and substance-related disorders (SUD) overlap on different levels, including phenomenology, co-morbidity, neurocircuitry, neurocognition, neurochemistry and family history. In this review we summarize these issues with particular emphasis on the role of the opioid system in the pathophysiology and treatment of OCD, ICD and SUD. We postulate that with progression and chronicity of OCD, the proportion of the OCD-related behaviours (e.g. checking, washing, ordering and hoarding, among others) that are driven by impulsive 'rash' processes increase as involvement of more ventral striatal circuits becomes prominent. In contrast, as SUD and ICD progress, the proportion of the SUD- and ICD-related behaviours that are driven by compulsive 'habitual' processes increase as involvement of more dorsal striatal circuits become prominent. We are not arguing that, with time, ICD becomes OCD or vice versa. Instead, we are proposing that these disorders may acquire qualities of the other with time. In other words, while patients with ICD/SUD may develop 'compulsive impulsions', patients with OCD may exhibit 'impulsive compulsions'. There are many potential implications of our model. Theoretically, OCD patients exhibiting impulsive or addictive features could be managed with drugs that address the quality of the underlying drives and the involvement of neural systems. For example, agents for the reduction or prevention of relapse of addiction (e.g. heavy drinking), which modulate the cortico-mesolimbic dopamine system through the opioid (e.g. buprenorphine and naltrexone

  17. Acquired unilateral melanocytic nevi in otherwise normal skin.

    PubMed

    Yu, Xijun; Nagai, Hiroshi; Nishigori, Chikako; Horikawa, Tatsuya

    2008-01-01

    We describe a case with numerous melanocytic nevi in otherwise normal skin. A 5-year-old girl presented with more than 100 small pigment lesions on her left arm, shoulder and upper back without underlying light brown macule. The pigment lesions were first found on her left forearm at 3 months old and gradually increased along with her growth. Skin biopsy from a pigmented lesion shows a pathological change in compound-type melanocytic nevus without any atypical changes. Speckled lentiginous nevus is known to have multiple melanocytic lesions on the underlying brown macule from birth. Partial unilateral lentiginosis is characterized by unilateral lentigines with histopathological changes in lentigo but not melanocytic proliferation in the dermis. Agminated melanocytic nevi tend to be clustered together in a circumscribed area, whereas in the present case melanocytic nevi were segmentally arranged but not agminated. We consider that this is an unusual type of mosaicism of melanocytic disorders. PMID:18401177

  18. Key sleep neurologic disorders

    PubMed Central

    St. Louis, Erik K.

    2014-01-01

    Summary Sleep disorders are frequent comorbidities in neurologic patients. This review focuses on clinical aspects and prognosis of 3 neurologic sleep disorders: narcolepsy, restless legs syndrome/Willis-Ekbom disease (RLS/WED), and REM sleep behavior disorder (RBD). Narcolepsy causes pervasive, enduring excessive daytime sleepiness, adversely affecting patients' daily functioning. RLS/WED is characterized by an uncomfortable urge to move the legs before sleep, often evolving toward augmentation and resulting in daylong bothersome symptoms. RBD causes potentially injurious dream enactment behaviors that often signify future evolution of overt synucleinopathy neurodegeneration in as many as 81% of patients. Timely recognition, referral for polysomnography, and longitudinal follow-up of narcolepsy, RLS/WED, and RBD patients are imperatives for neurologists in providing quality comprehensive patient care. PMID:24605270

  19. Crystallographic and X-ray absorption spectroscopic characterization of Helicobacter pylori UreE bound to Ni2+ and Zn2+ reveal a role for the disordered C-terminal arm in metal trafficking

    PubMed Central

    Banaszak, Katarzyna; Martin-Diaconescu, Vlad; Bellucci, Matteo; Zambelli, Barbara; Rypniewski, Wojciech; Maroney, Michael J.; Ciurli, Stefano

    2012-01-01

    The survival and growth of the pathogen Helicobacter pylori in the gastric acidic environment is ensured by the activity of urease, an enzyme containing two essential Ni2+ ions in the active site. The metallo-chaperone UreE facilitates in vivo Ni2+ insertion into the apo-enzyme. Crystals of apo-HpUreE and its Ni2+ and Zn2+ bound forms were obtained from protein solutions in the absence and presence of the metal ions. The crystal structures of the homodimeric protein, determined at 2.00 Å (apo), 1.59 Å (Ni) and 2.52 Å (Zn) resolution, show the conserved proximal and solvent-exposed His102 residues from two adjacent monomers invariably involved in metal binding. The C-terminal regions of the apo-protein are disordered in the crystal, but acquire significant ordering in the presence of the metal ions due to the binding of His152. The analysis of X-ray absorption spectral data obtained on solutions of Ni2+- and Zn2+-HpUreE provided accurate information of the metal ion environment in the absence of solid-state effects. These results reveal the role of the histidine residues at the protein C-terminus in metal ion binding, and the mutual influence of protein framework and metal ion stereo-electronic properties in establishing coordination number and geometry leading to metal selectivity. PMID:22010876

  20. Impact of lactobacilli on orally acquired listeriosis

    PubMed Central

    Archambaud, Cristel; Nahori, Marie-Anne; Soubigou, Guillaume; Bécavin, Christophe; Laval, Laure; Lechat, Pierre; Smokvina, Tamara; Langella, Philippe; Lecuit, Marc; Cossart, Pascale

    2012-01-01

    Listeria monocytogenes is a foodborne pathogen that crosses the intestinal barrier and disseminates within the host. Here, we report a unique comprehensive analysis of the impact of two Lactobacillus species, Lactobacillus paracasei CNCM I-3689 and Lactobacillus casei BL23, on L. monocytogenes and orally acquired listeriosis in a gnotobiotic humanized mouse model. We first assessed the effect of treatment with each Lactobacillus on L. monocytogenes counts in host tissues and showed that each decreases L. monocytogenes systemic dissemination in orally inoculated mice. A whole genome intestinal transcriptomic analysis revealed that each Lactobacillus changes expression of a specific subset of genes during infection, with IFN-stimulated genes (ISGs) being the most affected by both lactobacilli. We also examined microRNA (miR) expression and showed that three miRs (miR-192, miR-200b, and miR-215) are repressed during L. monocytogenes infection. Treatment with each Lactobacillus increased miR-192 expression, whereas only L. casei association increased miR-200b and miR-215 expression. Finally, we showed that treatment with each Lactobacillus significantly reshaped the L. monocytogenes transcriptome and up-regulated transcription of L. monocytogenes genes encoding enzymes allowing utilization of intestinal carbon and nitrogen sources in particular genes involved in propanediol and ethanolamine catabolism and cobalamin biosynthesis. Altogether, these data reveal that the modulation of L. monocytogenes infection by treatment with lactobacilli correlates with a decrease in host gene expression, in particular ISGs, miR regulation, and a dramatic reshaping of L. monocytogenes transcriptome. PMID:23012479

  1. How to acquire customers on the Web.

    PubMed

    Hoffman, D L; Novak, T P

    2000-01-01

    Most retailers on the Web spend more to acquire customers than they will ever get back in revenue from them. Many think that sky-high spending on marketing is necessary to stake out their share of Internet space. But is it really? How do retailers know how much to pay? Consider CDnow, which has developed a multifaceted customer-acquisition strategy that reflects a clear understanding of the economics of an on-line business. At the heart of its strategy is affiliate marketing, a concept the company pioneered. Under its BuyWeb program, anyone can put a link to CDnow on his or her Web site, and if a customer uses that link to arrive at CDnow and make a purchase, the referring site owner gets a percentage of the sale. CDnow pays no money if no sale is made, which makes the marketing program completely efficient. But CDnow didn't stop there. Being a Web store, it had complete data on the number of visitors to its site and what they bought, which it used to work out the lifetime value of an average customer. CDnow used that figure to determine how much to wager on the expensive and risky world of traditional advertising to reach a wider audience that wasn't already on-line. CDnow's experience, still a work in progress, contradicts John Wanamaker's oft-quoted lament: "I know half the money I spend on advertising is wasted, but I can never find out which half." As the CDnow example demonstrates, there is a way to find out which half really works. PMID:11183979

  2. Impact of lactobacilli on orally acquired listeriosis.

    PubMed

    Archambaud, Cristel; Nahori, Marie-Anne; Soubigou, Guillaume; Bécavin, Christophe; Laval, Laure; Lechat, Pierre; Smokvina, Tamara; Langella, Philippe; Lecuit, Marc; Cossart, Pascale

    2012-10-01

    Listeria monocytogenes is a foodborne pathogen that crosses the intestinal barrier and disseminates within the host. Here, we report a unique comprehensive analysis of the impact of two Lactobacillus species, Lactobacillus paracasei CNCM I-3689 and Lactobacillus casei BL23, on L. monocytogenes and orally acquired listeriosis in a gnotobiotic humanized mouse model. We first assessed the effect of treatment with each Lactobacillus on L. monocytogenes counts in host tissues and showed that each decreases L. monocytogenes systemic dissemination in orally inoculated mice. A whole genome intestinal transcriptomic analysis revealed that each Lactobacillus changes expression of a specific subset of genes during infection, with IFN-stimulated genes (ISGs) being the most affected by both lactobacilli. We also examined microRNA (miR) expression and showed that three miRs (miR-192, miR-200b, and miR-215) are repressed during L. monocytogenes infection. Treatment with each Lactobacillus increased miR-192 expression, whereas only L. casei association increased miR-200b and miR-215 expression. Finally, we showed that treatment with each Lactobacillus significantly reshaped the L. monocytogenes transcriptome and up-regulated transcription of L. monocytogenes genes encoding enzymes allowing utilization of intestinal carbon and nitrogen sources in particular genes involved in propanediol and ethanolamine catabolism and cobalamin biosynthesis. Altogether, these data reveal that the modulation of L. monocytogenes infection by treatment with lactobacilli correlates with a decrease in host gene expression, in particular ISGs, miR regulation, and a dramatic reshaping of L. monocytogenes transcriptome. PMID:23012479

  3. Genomic approaches to bleeding disorders.

    PubMed

    Peyvandi, F; Hayward, C P M

    2016-07-01

    The genes encoding the coagulation factors were characterized over two decades ago. Since then, significant progress has been made in the genetic diagnosis of the two commonest severe inherited bleeding disorders, haemophilia A and B. Experience with the genetic of inherited rare bleeding disorders and platelet disorders is less well advanced. Rare bleeding disorders are usually inherited as autosomal recessive disorders, while it is now clear that a number of the more common platelet function disorders are inherited as autosomal dominant traits. In both cases, DNA sequencing has been useful since most of these disorders are due to mutations located at the coding regions or splice sites of genes encoding the abnormal protein. However, in 5-10% of patients affected with severe clotting factor deficiencies, no genetic defect can be identified and until recently, the genetic characterization of inherited platelet disorders had been confined to the more prevalent conditions such as Glanzmann disease and Bernard-Soulier syndrome. In patients with no gene mutations identified, so far, the role of next-generation sequencing as well as of other new genomic technologies will very likely have increasing importance. However, such methods require extensive bioinformatics analysis that, in turn will require critical revision of our current diagnostic infrastructure. PMID:27405675

  4. Social communication features in children following moderate to severe acquired brain injury: a cross-sectional pilot study.

    PubMed

    Breau, Lynn M; Clark, Brenda; Scott, Ori; Wilkes, Courtney; Reynolds, Shawn; Ricci, Florencia; Sonnenberg, Lyn; Zwaigenbaum, Lonnie; Rashid, Marghalara; Goez, Helly R

    2015-04-01

    We compared the social communication deficits of children with moderate to severe acquired brain injury or autism spectrum disorder, while accounting for the role of attention-deficit hyperactivity disorder (ADHD) symptoms. Parents of 20 children aged 6 to 10 years (10 acquired brain injury; 10 autism spectrum disorder) completed the Social Communication Questionnaire, and Conners 3 Parent Short. A multivariate analysis of covariance revealed significant differences between groups in Social Communication Questionnaire restricted repetitive behavior scores, but not reciprocal social interaction or social communication. Multiple linear regressions indicated diagnosis did not predict reciprocal social interaction or social communication scores and that Conners 3 Parent Short Form hyperactivity scores were the strongest predictor of Social Communication Questionnaire reciprocal social interaction scores after accounting for age and Intelligence Quotient. The lack of difference in social communication deficits between groups may help in understanding the pathophysiology underlying the behavioral consequences of acquired brain injury. The link between hyperactivity and reciprocal interaction suggests that targeting hyperactivity may improve social outcomes in children following acquired brain injury. PMID:24659736

  5. Eating disorders in midlife women: A perimenopausal eating disorder?

    PubMed

    Baker, Jessica H; Runfola, Cristin D

    2016-03-01

    Eating disorders afflict women across the lifespan with peak onset during critical or sensitive developmental periods of reproductive hormone change, such as puberty. A growing body of research supports the role of reproductive hormones, specifically estrogen, in the risk for eating disorders and related symptomatology in adolescence and young adulthood. Like puberty, perimenopause is characterized by estrogen change and may also present a window of vulnerability to eating disorder development. Here, we discuss the evidence that suggests perimenopause indeed may be a vulnerable period for the development or redevelopment of an eating disorder for midlife women. Drawing from what is known about the influence of estrogen on eating disorders at younger ages and from other psychiatric disorders with similar risk trajectories (i.e., perimenopausal depression), we describe a potential mechanism of risk for a perimenopausal eating disorder and how this can be explored in future research. Investigating vulnerability to perimenopausal eating disorders will clarify eating disorder etiology, identify reproductive stage-specific risk profiles, and guide future treatment directions. PMID:26857889

  6. Oral dyspraxia in inherited speech and language impairment and acquired dysphasia.

    PubMed

    Alcock, K J; Passingham, R E; Watkins, K E; Vargha-Khadem, F

    2000-10-15

    Half of the members of the KE family suffer from an inherited verbal dyspraxia. The affected members of the family have a lasting impairment in phonology and syntax. They were given various tests of oral praxis to investigate whether their deficit extends to nonverbal movements. Performance was compared to adult patients with acquired nonfluent dysphasia, those with comparable right-hemisphere lesions, and age-matched controls. Affected family members and patients with nonfluent dysphasia were impaired overall at performing oral movements, particularly combinations of movements. It is concluded that affected members of the KE family resemble patients with acquired dysphasia in having difficulties with oral praxis and that speech and language problems of affected family members arise from a lower level disorder. PMID:11023636

  7. Association of acquired thrombotic thrombocytopaenic purpura in a patient with pernicious anaemia.

    PubMed

    Podder, Sidhertha; Cervates, Jose; Dey, Bimalangshu R

    2015-01-01

    Pernicious anaemia is an autoimmune disease caused by intrinsic factor antibody; it leads to vitamin B12 deficiency and is marked by ineffective erythropoiesis. Haematological features reveal macrocytosis, hyperchromasia and hypersegmented neutrophils. Schistocytes are typically seen in microangiopathy, such as in thrombotic thrombocytopaenic purpura (TTP)/haemolytic uraemic syndrome or disseminated intravascular haemolysis (DIC). We report a case of a patient with severe anaemia who presented to the emergency room. Peripheral smear revealed macrocytosis, hypersegmented neutrophils and marked schistocytosis. The patient also had high reticulocyte count with high serum lactate dehydrogenase, elevated D-dimer, low fibrinogen and low haptoglobin. Vitamin B12 level came back low and the presence of intrinsic factor antibody confirmed pernicious anaemia. ADAMTS13 level was noted to be mildly reduced, which raised the suspicion of the association of acquired TTP with pernicious anaemia. Acquired TTP is another autoimmune disorder and its association with pernicious anaemia needs further evaluation. PMID:26464409

  8. Beyond utterances: distributed cognition as a framework for studying discourse in adults with acquired brain injury.

    PubMed

    Duff, Melissa C; Mutlu, Bilge; Byom, Lindsey; Turkstra, Lyn S

    2012-02-01

    Considerable effort has been directed at understanding the nature of the communicative deficits observed in individuals with acquired brain injuries. Yet several theoretical, methodological, and clinical challenges remain. In this article, we examine distributed cognition as a framework for understanding interaction among communication partners, interaction of communication and cognition, and interaction with the environments and contexts of everyday language use. We review the basic principles of distributed cognition and the implications for applying this approach to the study of discourse in individuals with cognitive-communication disorders. We also review a range of protocols and findings from our research that highlight how the distributed cognition approach might offer a deeper understanding of communicative mechanisms and deficits in individuals with cognitive communication impairments. The advantages and implications of distributed cognition as a framework for studying discourse in adults with acquired brain injury are discussed. PMID:22362323

  9. A 75-year-old woman with acquired haemophilia disguised by warfarin treatment.

    PubMed

    Lawless, Sarah; Benson, Gary

    2015-01-01

    Acquired haemophilia is a rare coagulation disorder more commonly seen in elderly patients. Diagnosis and effective treatment can be delayed if patients are on warfarin treatment, as the bleeding symptoms may be erroneously attributed to this agent. We present a case report of a 75-year-old woman whose unexplained, severe and persistent bleeding was treated with surgical decompression and plasma transfusions, an appropriate management based on the assumption that warfarin was the cause of the bleeding. It was only when the patient's international normalised ratio returned to normal that a persistent abnormal activated partial thromboplastin time was noted. This delayed the correct diagnosis and treatment. Awareness of acquired haemophilia as a possible cause of sudden bleeding should be encouraged, and the wider dissemination of any relevant experience of similar cases would also be welcome. PMID:26443092

  10. Immunoadsorption for pregnancy-associated severe acquired hemophilia.

    PubMed

    Zeitler, Heike; Ulrich-Merzenich, Gudrun; Marquardt, Natascha; Oldenburg, Johannes; Goldmann, Georg

    2014-02-01

    Postpartum hemorrhage is a common cause of maternal mortality. Acquired hemophilia (AH) is a rare, life-threatening bleeding disorder induced by autoantibodies against coagulation factors (inhibitors). We report about eight patients with postpartum AH (out of 82). Seven AH patients with severe bleeding complications were treated by the "Modified Bonn-Malmö Protocol (MBMP)" which consists of inhibitor elimination via immunoadsorption (IA) in combination with immunosuppression and high-dose Factor VIII substitution. One patient was treated only by immunosuppression. Seven out of eight patients with severe AH and mean inhibitor titers (IT) of 118 BU/mL were referred to our center. They were severe cases with a median delay of diagnosis of 30.5 days (range 7-278 days). After a median of 3 IA sessions (range 3-5 days), no inhibitor was detectable. The factor substitution was discontinued after a median of 13 IA sessions (range 8-24 days) and IA was terminated after a median of 15 sessions (range 9-27 days). One less severe affected patient (IT: 2.1 BU/mL) received prednisolone (1.5 mg/kg BW) for 120 days. Complete remission was achieved in all patients with a median follow-up of 100 months (range 56-126 m). The delayed diagnosis of pregnancy-associated AH leads to a high bleeding risk with bleeding associated complications. Immunoadsorption offers an important treatment option in severe AH, enabling a fast reconstitution of the blood coagulation with a reduced time for the Factor VIII substitution and for immunosuppressive treatment. In cases of postpartum bleeding the diagnosis of AH should be routinely considered. PMID:24499091

  11. Other noninfectious inflammatory disorders.

    PubMed

    Rovira, Álex; Auger, Cristina; Rovira, Antoni

    2016-01-01

    Idiopathic inflammatory-demyelinating diseases (IIDDs) represent a broad spectrum of central nervous system (CNS) disorders, including monophasic, multiphasic, and progressive disorders that range from highly localized forms to multifocal or diffuse variants. In addition to the classic multiple sclerosis (MS) phenotypes, several MS variants have been described, which can be differentiated on the basis of severity, clinical course, and lesion distribution. Other forms of IIDD are now recognized as distinct entities and not MS variants, such as acute disseminated encephalomyelitis, and neuromyelitis optica spectrum disorders. The CNS can also be affected by a variety of inflammatory diseases. These include primary angiitis of the CNS (PACNS), a rare disorder specifically targeting the CNS vasculature, and various systemic conditions which, among other organs and systems, can also affect the CNS, such as systemic vasculitis and sarcoidosis. The diagnosis of PACNS is difficult, as this condition may be confused with reversible cerebral vasoconstriction syndrome (RCVS), a term comprising a group of conditions characterized by prolonged but reversible vasoconstriction of the cerebral arteries. Magnetic resonance imaging of the brain and spine is the radiologic technique of choice for diagnosing these disorders, and, together with the clinical and laboratory findings, enables a prompt and accurate diagnosis. PMID:27432677

  12. Inherited platelet disorders.

    PubMed

    Sandrock-Lang, Kirstin; Wentzell, Rüdiger; Santoso, Sentot; Zieger, Barbara

    2016-08-01

    Inherited platelet disorders may be the cause of bleeding symptoms of varying severity as platelets fail to fulfil their haemostatic role after vessel injury. Platelet disorders may be difficult to diagnose (and are likely to be misdiagnosed) and raise problems in therapy and management. This review explores the clinical and molecular genetic phenotype of several inherited disorders. Inherited platelet disorders can be classified according to their platelet defects: receptor defects (adhesion or aggregation), secretion disorder, and cytoskeleton defects. The best characterized platelet receptor defects are Glanzmann thrombasthenia (integrin αIIbβ3 defect) and Bernard-Soulier syndrome (defect of GPIb/IX/V). Detailed case reports of patients suffering from Glanzmann thrombasthenia (GT) or Bernard-Soulier syndrome (BSS) showing the bleeding diathesis as well as investigation of platelet aggregation/agglutination and platelet receptor expression will complement this review. In addition, Hermansky-Pudlak syndrome (HPS) as an important defect of δ-granule secretion is extensively described together with a case report of a patient suffering from HPS type 1. PMID:25707719

  13. [Sleep related eating disorder].

    PubMed

    Inoue, Yuichi; Komada, Yoko

    2010-01-01

    Nighttime eating is categorized as either sleep-related eating disorder (SRED) or night eating syndrome (NES). Critical reviews of the literature on both disorders have suggested that they are situated at opposite poles of a disordered eating spectrum. The feeding behavior in SRED is characterized by recurrent episodes of eating after an arousal from nighttime sleep with amnesia. Conversely, NES could be considered as an abnormality in the circadian rhythm of meal timing with a normal circadian timing of sleep onset. Both conditions clearly concentrate to occur during young adulthood, and are often relentless and chronic. Misunderstanding and low awareness of SRED and NES have limited our ability to determine the exact prevalence of the two disorders. SRED is frequently associated with other sleep disorders, in particular parasomnias such as sleep walking. Cognitive-behavioral therapy is ineffective, but pharmacotherapy is very effective in controlling SRED. Especially, studies have shown that the anti-seizure medication topiramate may be an effective treatment for SRED. PMID:21077298

  14. Bipolar disorder in women

    PubMed Central

    Parial, Sonia

    2015-01-01

    Bipolar affective disorder in women is a challenging disorder to treat. It is unique in its presentation in women and characterized by later age of onset, seasonality, atypical presentation, and a higher degree of mixed episodes. Medical and psychiatric co-morbidity adversely affects recovery from the bipolar disorder (BD) more often in women. Co-morbidity, particularly thyroid disease, migraine, obesity, and anxiety disorders occur more frequently in women while substance use disorders are more common in men. Treatment of women during pregnancy and lactation is challenging. Pregnancy neither protects nor exacerbates BD, and many women require continuation of medication during the pregnancy. The postpartum period is a time of high risk for onset and recurrence of BD in women. Prophylaxis with mood stabilizers might be needed. Individualized risk/benefits assessments of pregnant and postpartum women with BD are required to promote the health of the women and to avoid or limit exposure of the fetus or infant to potential adverse effects of medication. PMID:26330643

  15. Intensive Care Unit–Acquired Weakness: Implications for Physical Therapist Management

    PubMed Central

    Moss, Marc; Quan, Dianna; Schenkman, Margaret

    2012-01-01

    Patients admitted to the intensive care unit (ICU) can develop a condition referred to as “ICU-acquired weakness.” This condition is characterized by profound weakness that is greater than might be expected to result from prolonged bed rest. Intensive care unit–acquired weakness often is accompanied by dysfunction of multiple organ systems. Individuals with ICU-acquired weakness typically have significant activity limitations, often requiring physical assistance for even the most basic activities associated with bed mobility. Many of these individuals have activity limitations months to years after hospitalization. The purpose of this article is to review evidence that guides physical rehabilitation of people with ICU-acquired weakness. Included are diagnostic criteria, medical management, and prognostic indicators, as well as criteria for beginning physical rehabilitation, with an emphasis on patient safety. Data are presented indicating that rehabilitation can be implemented with very few adverse effects. Evidence is provided for appropriate measurement approaches and for physical intervention strategies. Finally, some of the key issues are summarized that should be investigated to determine the best intervention guidelines for individuals with ICU-acquired weakness. PMID:22282769

  16. Investigating the construct of trauma-related acquired callousness among delinquent youth: differences in emotion processing.

    PubMed

    Bennett, Diana C; Kerig, Patricia K

    2014-08-01

    This study tested theories regarding differences in emotion processing among youth characterized by primary versus acquired callous-unemotional (CU) traits in a sample of 417 detained adolescents (306 boys, 111 girls). Mixture modeling identified 2 groups of youth high in CU, but with different levels of posttraumatic stress symptoms consistent with theoretical conceptualizations of acquired CU as being linked to trauma. Differences between the 2 groups of youth were investigated regarding 3 dimensions of emotion processing: emotion regulation, numbing, and recognition. Compared to youth classified in the primary group, youth classified as acquired CU demonstrated greater difficulty with lack of clarity (OR = 0.53), and nonacceptance of emotions, (OR = 0.57), general numbing of emotions (OR = 0.87), and recognition of disgust (OR = 0.18). Differences in emotion processing reported by youth in the 2 groups are consistent with theories regarding acquired callousness as related to emotional detachment in the aftermath of posttraumatic distress. The results of the current study have implications for the classification of primary and acquired CU, as well as the clinical treatment of youth with these characteristics. PMID:25079943

  17. Disorderly Light.

    ERIC Educational Resources Information Center

    Peterson, Ivars

    1991-01-01

    The relationship between theories about electrical conductivity in microscopic wires and laser speckle patterns is described. Practical applications of laser speckle patterns are included. Wave ideas are being used to describe and predict novel phenomena in disordered solids. (KR)

  18. Voice Disorders

    MedlinePlus

    ... make you hoarse. They can also lead to problems such as nodules, polyps, and sores on the ... disorders varies depending on the cause. Most voice problems can be successfully treated when diagnosed early. NIH: ...

  19. Mathematics disorder

    MedlinePlus

    The child may have problems in school, including behavior problems and loss of self-esteem. Some children with mathematics disorder become anxious or afraid when given math problems, making the problem even worse.

  20. Psychotic Disorders

    MedlinePlus

    ... severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two ... is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that ...