Science.gov

Sample records for manifestations rhumatologiques revelatrices

  1. 40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... describe how the registrant will assign manifest tracking numbers to its manifests. If computer systems or... 40 Protection of Environment 27 2012-07-01 2012-07-01 false Manifest tracking numbers, manifest... Manifest § 262.21 Manifest tracking numbers, manifest printing, and obtaining manifests. (a)(1)...

  2. 40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... describe how the registrant will assign manifest tracking numbers to its manifests. If computer systems or... 40 Protection of Environment 26 2014-07-01 2014-07-01 false Manifest tracking numbers, manifest... Manifest § 262.21 Manifest tracking numbers, manifest printing, and obtaining manifests. (a)(1)...

  3. 40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... describe how the registrant will assign manifest tracking numbers to its manifests. If computer systems or... 40 Protection of Environment 27 2013-07-01 2013-07-01 false Manifest tracking numbers, manifest... Manifest § 262.21 Manifest tracking numbers, manifest printing, and obtaining manifests. (a)(1)...

  4. Extrahepatic manifestations of HCV.

    PubMed

    Grignoli, R; Goossens, N; Negro, F

    2015-03-01

    The hepatic consequences of an infection with the hepatitis C virus (HCV) are well recognised, but extrahepatic manifestations of HCV may be just as severe. Here we have reviewed various extrahepatic manifestations of HCV such as mixed cryoglobulinemia, lymphoma, metabolic features and neurologic consequences and we discuss pathogenesis and management of these clinical problems. We concluded with important aspects of therapy with novel anti-HCV agents and its effects on extrahepatic manifestations. PMID:25390287

  5. Rheumatic manifestations of scurvy.

    PubMed

    Ferrari, Claudia; Possemato, Niccol; Pipitone, Nicol; Manger, Bernhard; Salvarani, Carlo

    2015-04-01

    This paper reviews the rheumatological manifestations of scurvy, based on articles published in English from 1965 until October 2014, with a particular focus on rheumatological manifestations. Scurvy is a rare, uncommon disease in developed countries. Due to its clinical heterogeneity, the disease can easily mimic rheumatologic conditions leading to a delay in diagnosis and treatment. PMID:25854491

  6. Haematological manifestations of lupus

    PubMed Central

    Fayyaz, Anum; Igoe, Ann; Kurien, Biji T; Danda, Debashish; James, Judith A; Stafford, Haraldine A; Scofield, R Hal

    2015-01-01

    Our purpose was to compile information on the haematological manifestations of systemic lupus erythematosus (SLE), namely leucopenia, lymphopenia, thrombocytopenia, autoimmune haemolytic anaemia (AIHA), thrombotic thrombocytopenic purpura (TTP) and myelofibrosis. During our search of the English-language MEDLINE sources, we did not place a date-of-publication constraint. Hence, we have reviewed previous as well as most recent studies with the subject heading SLE in combination with each manifestation. Neutropenia can lead to morbidity and mortality from increased susceptibility to infection. Severe neutropenia can be successfully treated with granulocyte colony-stimulating factor. While related to disease activity, there is no specific therapy for lymphopenia. Severe lymphopenia may require the use of prophylactic therapy to prevent select opportunistic infections. Isolated idiopathic thrombocytopenic purpura maybe the first manifestation of SLE by months or even years. Some manifestations of lupus occur more frequently in association with low platelet count in these patients, for example, neuropsychiatric manifestation, haemolytic anaemia, the antiphospholipid syndrome and renal disease. Thrombocytopenia can be regarded as an important prognostic indicator of survival in patients with SLE. Medical, surgical and biological treatment modalities are reviewed for this manifestation. First-line therapy remains glucocorticoids. Through our review, we conclude glucocorticoids do produce a response in majority of patients initially, but sustained response to therapy is unlikely. Glucocorticoids are used as first-line therapy in patients with SLE with AIHA, but there is no conclusive evidence to guide second-line therapy. Rituximab is promising in refractory and non-responding AIHA. TTP is not recognised as a criteria for classification of SLE, but there is a considerable overlap between the presenting features of TTP and SLE, and a few patients with SLE have concurrent TTP. Myelofibrosis is an uncommon yet well-documented manifestation of SLE. We have compiled the cases that were reported in MEDLINE sources. PMID:25861458

  7. Thermodynamics in 'Manifest Reality'

    SciTech Connect

    Hankey, Alex

    2010-12-22

    D'Espagnat's proof that the universe is not a 'strongly objective reality' demands that all physical processes are reconsidered in that light. D'Espagnat suggests a 'Veiled Reality' as a suitable alternative. The most economical way to achieve that is to demand that 'information production' at a quantum level creates the basis for self-consistent perception of a world of macroscopic, 'manifest' entities, as opposed to self-existent objects. Such a 'manifest reality' fulfils both Wheeler's attempt at an 'IT-from-BIT' programme, and Zeilinger's suggestion that 'information is primary'.

  8. Thermodynamics in `Manifest Reality'

    NASA Astrophysics Data System (ADS)

    Hankey, Alex

    2010-12-01

    D'Espagnat's proof that the universe is not a `strongly objective reality' demands that all physical processes are reconsidered in that light. D'Espagnat suggests a `Veiled Reality' as a suitable alternative. The most economical way to achieve that is to demand that `information production' at a quantum level creates the basis for self-consistent perception of a world of macroscopic, `manifest' entities, as opposed to self-existent objects. Such a `manifest reality' fulfils both Wheeler's attempt at an `IT-from-BIT' programme, and Zeilinger's suggestion that `information is primary'.

  9. Immunologic manifestations of autophagy

    PubMed Central

    Deretic, Vojo; Kimura, Tomonori; Timmins, Graham; Moseley, Pope; Chauhan, Santosh; Mandell, Michael

    2015-01-01

    The broad immunologic roles of autophagy span innate and adaptive immunity and are often manifested in inflammatory diseases. The immune effects of autophagy partially overlap with its roles in metabolism and cytoplasmic quality control but typically expand further afield to encompass unique immunologic adaptations. One of the best-appreciated manifestations of autophagy is protection against microbial invasion, but this is by no means limited to direct elimination of intracellular pathogens and includes a stratified array of nearly all principal immunologic processes. This Review summarizes the broad immunologic roles of autophagy. Furthermore, it uses the autophagic control of Mycobacterium tuberculosis as a paradigm to illustrate the breadth and complexity of the immune effects of autophagy. PMID:25654553

  10. Skin manifestations in CDG.

    PubMed

    Rymen, D; Jaeken, J

    2014-09-01

    The group of congenital disorders of glycosylation (CDG) has expanded tremendously since its first description in 1980, with around 70 distinct disorders described to date. A great phenotypic variability exists, ranging from multisystem disease to single organ involvement. Skin manifestations, although inconsistently present, are part of this broad clinical spectrum. Indeed, the presence of inverted nipples, fat pads and orange peel skin in a patient with developmental delay are considered as a hallmark of CDG, particularly seen in PMM2 deficiency. However, over the years many more dermatological findings have been observed (e.g., ichthyosis, cutis laxa, tumoral calcinosis…). In this review we will discuss the variety of skin manifestations reported in CDG. Moreover, we will explore the possible mechanisms that link a certain glycosylation deficiency to its skin phenotype. PMID:24554337

  11. ATYPICAL MANIFESTATIONS OF HYPERTHYROIDISM.

    PubMed

    BOXALL, E A; LAUENER, R W; MCINTOSH, H W

    1964-08-01

    Patients with hyperthyroidism usually present with symptoms of hypermetabolism with or without goitre and/or eye signs. Occasionally, however, the chief complaints are not immediately suggestive of hyperthyroidism. Patients with hyperthyroidism are described who presented with such atypical manifestations as periodic muscular paralysis, myasthenia, myopathy, encephalopathy, psychosis, angina pectoris, atrial fibrillation, heart failure without underlying heart disease, skeletal demineralization, pretibial myxedema, unilateral eye signs, and pitting edema of the ankles. PMID:14178405

  12. [Respiratory manifestations in aspergillosis].

    PubMed

    Regimbaud, M

    1986-01-01

    Aspergillus is a genus of cosmopolitan fungi with a selective pulmonary tropism. Their pathogenic role is due either to spreading in pre-existing pulmonary cavities, or to their allergizing capacity. Cavitary sequellae of tuberculosis and suppuration, particularly frequent and important in tropical environment, are elective localization for Aspergillus colonization. Surgical treatment is nowadays the only efficient one. Allergic manifestations are a more complex problem of therapy, exclusion of allergen being difficult to get in tropical environment. PMID:3773680

  13. Atypical Manifestations of Hyperthyroidism

    PubMed Central

    Boxall, E. A.; Lauener, R. W.; McIntosh, H. W.

    1964-01-01

    Patients with hyperthyroidism usually present with symptoms of hypermetabolism with or without goitre and/or eye signs. Occasionally, however, the chief complaints are not immediately suggestive of hyperthyroidism. Patients with hyperthyroidism are described who presented with such atypical manifestations as periodic muscular paralysis, myasthenia, myopathy, encephalopathy, psychosis, angina pectoris, atrial fibrillation, heart failure without underlying heart disease, skeletal demineralization, pretibial myxedema, unilateral eye signs, and pitting edema of the ankles. ImagesFig. 2Fig. 3Fig. 5Fig. 7Fig. 8Fig. 9Fig. 10 PMID:14178405

  14. [Cutaneous manifestations of sarcoidosis].

    PubMed

    Descamps, V; Bouscarat, F

    2016-01-01

    Sarcoidosis is a systemic granulomatous disorder of unknown aetiology. Its dermatological manifestations are extremely polymorphous. They are normally classed as either specific lesions, comprising granulomas, which are generally chronic, or non-specific lesions, principally acute erythema nodosum. These signs are seen in around 25% of sarcoidosis patients. The disease may be heralded by a skin disorder. Diagnosis of cutaneous sarcoidosis provides the clinician with three problems: screening for a visceral site of the disease, determination of the prognosis, and long-term management with regular monitoring coupled with suitable therapy in the event of cosmetic or functional impairment. PMID:26804434

  15. Ophthalmologic manifestations of celiac disease

    PubMed Central

    Martins, Thiago Gonçalves dos Santos; Costa, Ana Luiza Fontes de Azevedo; Oyamada, Maria Kiyoko; Schor, Paulo; Sipahi, Aytan Miranda

    2016-01-01

    Celiac disease is an autoimmune disorder that affects the small intestine of genetically predisposed individuals. Ophthalmic manifestations are within the extra-intestinal manifestations, and can be divided into those of autoimmune disorders or those due to absorptive disabilities. This article reviewed the ophthalmologic manifestation of celiac disease. Ophthalmic symptoms are rare, but should be investigated in patients with celiac disease and taken into consideration as the first systemic manifestation. PMID:26949627

  16. Lymphatic manifestations of lymphangioleiomyomatosis.

    PubMed

    Gupta, R; Kitaichi, M; Inoue, Y; Kotloff, R; McCormack, F X

    2014-09-01

    Lymphangioleiomyomatosis (LAM) is a slowly progressive, low grade, metastasizing neoplasm, associated with cellular invasion and cystic destruction of the pulmonary parenchyma. Although the source of LAM cells that infiltrate the lung is unknown, available evidence indicates that the disease spreads primarily through lymphatic channels, often involving abdominal, axial, and retroperitoneal nodes, suggestive of an origin in the pelvis. LAM cells harbor mutations in tuberous sclerosis genes and produce lymphangiogenic growth factors, which facilitate access to and movement through the lymphatic system and likely play an important role in destructive tissue remodeling in the lung. Lymphatic manifestations of LAM include thoracic duct wall invasion, lymphangioleiomyoma formation, chylous fluid collections in the peritoneal, pleural, and pericardial spaces, chyloptysis, chylocolporrheal chylometrorrhea, chyle leak from the umbilicus, chylous pulmonary congestion, and lower extremity lymphedema. LAM lesions express lymphangiogenic growth factors VEGF-C and VEGF-D; growth factor receptors, VEGFR-2 and VEGFR-3; and markers LYVE-1 and podoplanin, and are laced with chaotic lymphatic channels. Serum VEGF-D is elevated in 70% of patients with LAM and is a clinically useful diagnostic and prognostic biomarker. Molecular targeted therapy with sirolimus stabilizes lung function, is anti-lymphangiogenic, and is highly effective for the lymphatic and chylous complications of LAM. Future trials in patients with LAM who have lymphatic manifestations or elevated serum VEGF-D will likely focus on the VEGF-C/VEGF-D/VEGFR-3 axis. PMID:25507287

  17. Lymphatic manifestations of lymphangioleiomyomatosis.

    PubMed

    Gupta, R; Kitaichi, M; Inoue, Y; Kotloff, R; McCormack, F X

    2014-09-01

    Lymphangioleiomyomatosis (LAM) is a slowly progressive, low grade, metastasizing neoplasm, associated with cellular invasion and cystic destruction of the pulmonary parenchyma. Although the source of LAM cells that infiltrate the lung is unknown, available evidence indicates that the disease spreads primarily through lymphatic channels, often involving abdominal, axial, and retroperitoneal nodes, suggestive of an origin in the pelvis. LAM cells harbor mutations in tuberous sclerosis genes and produce lymphangiogenic growth factors, which facilitate access to and movement through the lymphatic system and likely play an important role in destructive tissue remodeling in the lung. Lymphatic manifestations of LAM include thoracic duct wall invasion, lymphangioleiomyoma formation, chylous fluid collections in the peritoneal, pleural, and pericardial spaces, chyloptysis, chylocolporrheal chylometrorrhea, chyle leak from the umbilicus, chylous pulmonary congestion, and lower extremity lymphedema. LAM lesions express lymphangiogenic growth factors VEGF-C and VEGF-D; growth factor receptors, VEGFR-2 and VEGFR-3; and markers LYVE-1 and podoplanin, and are laced with chaotic lymphatic channels. Serum VEGF-D is elevated in 70% of patients with LAM and is a clinically useful diagnostic and prognostic biomarker. Molecular targeted therapy with sirolimus stabilizes lung function, is anti-lymphangiogenic, and is highly effective for the lymphatic and chylous complications of LAM. Future trials in patients with LAM who have lymphatic manifestations or elevated serum VEGF-D will likely focus on the VEGF-C/VEGF-D/VEGFR-3 axis. PMID:25420303

  18. Rheumatologic Manifestations of Sarcoidosis

    PubMed Central

    Sweiss, Nadera J.; Patterson, Karen; Sawaqed, Ray; Jabbar, Umair; Korsten, Peter; Hogarth, Kyle; Wollman, Robert; Garcia, Joe G.N.; Niewold, Timothy B.; Baughman, Robert P.

    2012-01-01

    Sarcoidosis is a systemic, clinically heterogeneous disease characterized by the development of granulomas. Any organ system can be involved, and patients may present with any number of rheumatologic symptoms. There are no U.S. Food and Drug Administrationapproved therapies for the treatment of sarcoidosis. Diagnosing sarcoidosis becomes challenging, particularly when its complications cause patients symptoms to mimic other conditions, including polymyositis, Sjgren syndrome, or vasculitis. This review presents an overview of the etiology of and biomarkers associated with sarcoidosis. We then provide a detailed description of the rheumatologic manifestations of sarcoidosis and present a treatment algorithm based on current clinical evidence for patients with sarcoid arthritis. The discussion will focus on characteristic findings in patients with sarcoid arthritis, osseous involvement in sarcoidosis, and sarcoid myopathy. Arthritic conditions that sometimes coexist with sarcoidosis are described as well. We present two cases of sarcoidosis with rheumatologic manifestations. Our intent is to encourage a multidisciplinary, translational approach to meet the challenges and difficulties in understanding and treating sarcoidosis. PMID:20665396

  19. [Central manifestations of dystrophinopathies].

    PubMed

    Cuisset, J-M; Rivier, F

    2015-12-01

    Le gène dystrophine impliqué dans les dystrophies musculaires de Duchenne et de Becker est exprimé dans 3 principaux tissus à l'origine des manifestations cliniques: le muscle strié squelettique, le cœur et le système nerveux central. Les 6 dystrophines différentes présentes au niveau du cerveau joueraient un rôle dans la maturation et la plasticité des synapses des neurones en particulier par leur fonction au niveau de l'agrégation et de la stabilisation de différents récepteurs de la membrane post synaptique. La possibilité d'une déficience intellectuelle dans la dystrophie musculaire de Duchenne est connue depuis la description princeps par Duchenne lui-même. Les données actuelles vont dans le sens d'une atteinte cognitive constante avec une courbe de Gauss des quotients intellectuels (QI) décalée de -1 écart-type par rapport à la population standard, et un QI moyen autour de 80. Les manifestations témoignant d'une atteinte du système nerveux central peuvent concerner l'ensemble des dystrophinopathies classiques avec atteinte musculaire, et se présenter isolément, sans signe myopathique. Le spectre phénotypique apparaît plus large et subtil que la déficience intellectuelle. L'atteinte isolée ou combinée de fonctions cognitives spécifiques (fonctions mnésiques, fonctions exécutives, attention) est possible, associée ou non à une déficience intellectuelle. Les troubles du spectre de l'autisme font également partie des manifestations rencontrées. En pratique clinique, il faut penser à réaliser un dosage des CPK plasmatiques dans ces différentes situations, en sachant qu'il a été rapporté très récemment des formes centrales pures de dystrophinopathies à CPK plasmatiques normales. PMID:26773588

  20. Oral manifestations of syphilis.

    PubMed

    Leo, Jair Carneiro; Gueiros, Luiz Alcino; Porter, Stephen R

    2006-04-01

    The past decade has shown a significant rise in the prevalence of infective syphilis in the developed world, and striking increases in its frequency have occurred in Eastern Europe, particularly the UK, and in the US. Although oral manifestations of syphilis are most likely to be observed during secondary disease, all stages of the disease can give rise to oral lesions. Significant oral lesions such as gumma-associated bony destruction and a possible predisposition to oral squamous cell carcinoma are associated with tertiary disease. Since the prevalence of infective syphilis in heterosexuals has been increasing, there has now been a gradual rise in the number of children born with congenital syphilis. Consequently, the congenital disease gives rise to dental anomalies as well as bone, skin, and neurological anomalies of the face. The aim of this report is to review syphilis-related oral lesions, as well as to summarize the relations between human immunodeficiency virus (HIV) and syphilis. PMID:16680334

  1. Ophthalmic manifestations postlightning strike.

    PubMed

    Dhillon, Permesh Singh; Gupta, Mohit

    2015-01-01

    Various ophthalmic complications affecting the anterior and posterior segments have been identified due to lightning strike. We report the first case of an indirect lightning-induced full thickness macular hole formation in the UK as evidenced by slit lamp examination and optical coherence tomography (OCT) scan in a 77-year-old woman presenting with sudden visual loss in her right eye and thermal skin injury affecting her scalp. Her best corrected visual acuities were LogMAR 0.46 and 0.12 in the right and left eyes, respectively. There were no other ocular manifestations observed in either eye. She was initially managed conservatively with non-steroidal anti-inflammatory drug eye drops but surgery was later advised due to minimal changes in the visual acuity and macular hole on follow-up. OCT scanning is important in diagnosing macular holes, which usually warrant surgical intervention. PMID:25827914

  2. Manifesting the Quantum World

    NASA Astrophysics Data System (ADS)

    Mohrhoff, Ulrich

    2014-06-01

    In resisting attempts to explain the unity of a whole in terms of a multiplicity of interacting parts, quantum mechanics calls for an explanatory concept that proceeds in the opposite direction: from unity to multiplicity. Being part of the Scientific Image of the world, the theory concerns the process by which (the physical aspect of) what Sellars called the Manifest Image of the world comes into being. This process consists in the progressive differentiation of an intrinsically undifferentiated entity. By entering into reflexive spatial relations, this entity gives rise to (i) what looks like a multiplicity of relata if the reflexive quality of the relations is not taken into account, and (ii) what looks like a substantial expanse if the spatial quality of the relations is reified. If there is a distinctly quantum domain, it is a non-spatial and non-temporal dimension across which the transition from the unity of this entity to the multiplicity of the world takes place. Instead of being constituents of the physical world, subatomic particles, atoms, and molecules are instrumental in its manifestation. These conclusions are based on the following interpretive principle and its more direct consequences: whenever the calculation of probabilities calls for the addition of amplitudes, the distinctions we make between the alternatives lack objective reality. Applied to alternatives involving distinctions between regions of space, this principle implies that, owing to the indefiniteness of positions, the spatiotemporal differentiation of the physical world is incomplete: the existence of a real-valued spatiotemporal background is an unrealistic idealization. This guarantees the existence of observables whose values are real per se, as against "real by virtue of being indicated by the values of observables that are real per se." Applied to alternatives involving distinctions between things, it implies that, intrinsically, all fundamental particles are numerically identical and thus identifiable with the aforementioned undifferentiated entity.

  3. Oral manifestations of systemic diseases.

    PubMed

    Long, R G; Hlousek, L; Doyle, J L

    1998-01-01

    Many systemic diseases have oral manifestations. The oral cavity might well be thought of as the window to the body because oral manifestations accompany many systemic diseases. These oral manifestations must be properly recognized if the patient is to receive appropriate diagnosis and referral for treatment. We have reviewed a series of recent articles and summarized known and newly described oral manifestations of several systemic diseases. The lesions of the oral mucosa, tongue, gingiva, dentition, periodontium, salivary glands, facial skeleton, extraoral skin and other related structures caused by some of the more common systemic diseases are highlighted. PMID:9844357

  4. Oral Manifestations of Vitiligo

    PubMed Central

    Nagarajan, Anitha; Masthan, Mahaboob Kader; Sankar, Leena Sankari; Narayanasamy, Aravindha Babu; Elumalai, Rajesh

    2015-01-01

    Background: Vitiligo is one of the disorder that has social impact. Both skin and mucous membrane show depigmentation in vitiligo. Depigmentation in oral cavity can be more easily observed and the patient can be given awareness regarding the condition if they are unaware of vitiligo elsewhere in their body and can be guided for treatment. Aim and objectives: The aim of this study is to determine the frequency of occurrence of oral mucosal vitiligo in vitiligo patients and to determine the most commonly involved oral mucosal site. Materials and methods: The study sample included 100 vitiligo patients. The patients of all age groups and both genders were included. Vitiligo patients associated with systemic conditions such as thyroid disorders, juvenile diabetes mellitus, pernicious anemia, Addison's disease were excluded in this study. Results: Out of 100 vitiligo patients 44 % male and 56% were female. The oral presentation of vitiligo in this study showed depigmentation of buccal mucosa in 5% of patients, labial mucosa in 5% of patients, palate in 8% of patients, gingiva in 2% of patients and alveolar mucosa 1%. Depigmentation of lip was seen in 42% of patients. Lip involvement refers to depigmentation of both the lips or either lip. Also vermilion border involvement was noted in majority of cases. In some cases, the depigmentation of lip extended to the facial skin also. Conclusion: In this study 55 patients out of 100 patients showed depigmentation in the oral cavity. Lip involvement was most common in this study showing about 42% of patients. Intraoral mucosal involvement was found in 21% of patients. Among intraoral mucosal site palate was common followed by buccal and labial mucosa, gingiva. Two patients had lip pigmentation as the only manifestation without any depigmentation in the skin. PMID:25657420

  5. [Skin manifestations of monoclonal gammopathies].

    PubMed

    Hello, M; Barbarot, S; Néel, A; Connault, J; Graveleau, J; Durant, C; Decaux, O; Hamidou, M

    2014-01-01

    Whatever their aetiology, monoclonal gammopathies can be associated to several clinical features. Mechanisms are various and sometimes unknown. Skin is frequently involved and may represent a challenging diagnosis. Indeed, skin manifestations are either the presenting features and isolated, or at the background of a systemic syndrome. Our objective was to review the various skin manifestations that have been associated with monoclonal gammopathies. PMID:24070793

  6. Cutaneous Manifestations of Crohn Disease.

    PubMed

    Hagen, Joshua W; Swoger, Jason M; Grandinetti, Lisa M

    2015-07-01

    Awareness of the extraintestinal manifestations of Crohn disease is increasing in dermatology and gastroenterology, with enhanced identification of entities that range from granulomatous diseases recapitulating the underlying inflammatory bowel disease to reactive conditions and associated dermatoses. In this review, the underlying etiopathology of Crohn disease is discussed, and how this mirrors certain skin manifestations that present in a subset of patients is explored. The array of extraintestinal manifestations that do not share a similar pathology, but which are often seen in association with inflammatory bowel disease, is also discussed. Treatment and pathogenetic mechanisms, where available, are discussed. PMID:26143422

  7. Renal (Kidney) Manifestations in TSC

    MedlinePLUS Videos and Cool Tools

    ... TSC Research Conference Text Size Get Involved RENAL (KIDNEY) MANIFESTATIONS IN TSC Download a PDF of this ... complex (TSC) will develop some form of renal (kidney) disease during their lifetime. There are three particular ...

  8. Cutaneous manifestations in antiphospholipid syndrome.

    PubMed

    Caporuscio, S; Sorgi, M L; Nistic, S; Pranteda, G; Bottoni, U; Carboni, I; Del Duca, E; Pranteda, G

    2015-06-01

    Antiphospholipid syndrome (APS) is a hypercoagulable state that leads to thrombosis and recurrent pregnancy loss related to the presence of antiphospholipid antibodies (LAC, anticardiolipin, antiA2-glycoprotein). Among cutaneous manifestations, livedo reticularis is the most frequent form of APS. In the literature, there are rare cases associated with diffuse skin necrosis (widespread skin necrosis) and intravascular thrombosis in the small vessels of the dermis. We describe the case of a 44-year-old man with positive anticardiolipin antibodies and protein S deficiency that developed scattered, bullous skin lesions, haemorrhagic in appearance with signs of necrosis as first clinical manifestation of antiphospholipid syndrome. PMID:25875603

  9. Neuropsychiatric manifestations in rheumatoid arthritis.

    PubMed

    Joaquim, Andrei F; Appenzeller, Simone

    2015-12-01

    Rheumatoid arthritis (RA) is a chronic disease characterized by persistent synovitis, systemic inflammation, and the presence of autoantibodies. Neuropsychiatric manifestations are quite common in RA, including depression, cognitive dysfunction, behavior changes, spinal cord compression and peripheral nerve involvement. Potential causes include systemic inflammatory process, neural compression due to bone and joint destruction, side effects of medications and copying difficulties due to the chronicity of the disease. A high level of suspicious is required for an adequate diagnosis and treatment. In this review, we will discuss topographically the main neuropsychiatric manifestations described in RA patients, in an attempt to help in the management of these complex and multifaceted disease. PMID:26238502

  10. Skin Manifestations of Internal Malignancy

    PubMed Central

    Donsky, Howard J.

    1978-01-01

    Although some of the skin manifestations of internal malignancy are relatively rare, their identification may often be made at a crucial time, when intervention may save a life. This article classifies such signs and describes those which may be seen in family practice. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8 PMID:21301498

  11. Psychiatric manifestations in cerebrotendinous xanthomatosis

    PubMed Central

    Fraidakis, M J

    2013-01-01

    Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must be started as early as possible to prevent permanent disability. Psychiatric manifestations are rare and non-specific, and often lead to significant diagnostic and treatment delay. Therefore, better recognition of the gamut of psychiatric manifestations in CTX can diminish the risk of misdiagnosis and irreversible neurological deterioration. We hereby describe the psychiatric features in CTX. A complete review of all published cases of CTX in the medical literature was undertaken and the case reports with psychiatric presentation were collected and analyzed. We also describe the psychiatric features in relation to the neurological semeiology in six patients with CTX diagnosed at the La Salpêtrière Hospital. We conclude that psychiatric manifestations in CTX follow a bimodal/bitemporal pattern, appearing early in the disease course in the form of a behavioral/personality disorder associated with learning difficulties or mental retardation, or manifesting in advanced disease in the setting of dementia as rich neuropsychiatric syndromes, such as frontal, orbitofrontal or frontotemporal syndromes of cortico-subcortical dementia encompassing behavioral/personality disturbance, affective/mood disorders or psychotic disorders. Behavioral/personality disturbance in childhood or adolescence, especially when accompanied by learning difficulties, should therefore lead to further investigation to exclude CTX, as early diagnosis and treatment is critical for prognosis. PMID:24002088

  12. Psychiatric manifestations in cerebrotendinous xanthomatosis.

    PubMed

    Fraidakis, M J

    2013-01-01

    Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must be started as early as possible to prevent permanent disability. Psychiatric manifestations are rare and non-specific, and often lead to significant diagnostic and treatment delay. Therefore, better recognition of the gamut of psychiatric manifestations in CTX can diminish the risk of misdiagnosis and irreversible neurological deterioration. We hereby describe the psychiatric features in CTX. A complete review of all published cases of CTX in the medical literature was undertaken and the case reports with psychiatric presentation were collected and analyzed. We also describe the psychiatric features in relation to the neurological semeiology in six patients with CTX diagnosed at the La Salptrire Hospital. We conclude that psychiatric manifestations in CTX follow a bimodal/bitemporal pattern, appearing early in the disease course in the form of a behavioral/personality disorder associated with learning difficulties or mental retardation, or manifesting in advanced disease in the setting of dementia as rich neuropsychiatric syndromes, such as frontal, orbitofrontal or frontotemporal syndromes of cortico-subcortical dementia encompassing behavioral/personality disturbance, affective/mood disorders or psychotic disorders. Behavioral/personality disturbance in childhood or adolescence, especially when accompanied by learning difficulties, should therefore lead to further investigation to exclude CTX, as early diagnosis and treatment is critical for prognosis. PMID:24002088

  13. Unusual manifestations of osteoarticular tuberculosis.

    PubMed

    Babhulkar, Sudhir S; Pande, Sonali K

    2002-05-01

    Unusual manifestations of osteoarticular tuberculosis, especially tubercular osteomyelitis, are described. Diagnostic problems may arise and lead to delay in treatment if these conditions are not considered in the differential diagnosis. The importance of bacteriologic and histopathologic confirmation of the disease is stressed. PMID:11964639

  14. 40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... instructions in the appendix to 40 CFR part 262 must appear legibly on the back of the copies of the manifest... mailing address of registrant; (2) Name, telephone number and email address of contact person; (3) Brief... notify EPA by phone or email as soon as it becomes aware that it has duplicated tracking numbers on...

  15. 40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... instructions in the appendix to 40 CFR part 262 must appear legibly on the back of the copies of the manifest... mailing address of registrant; (2) Name, telephone number and email address of contact person; (3) Brief... notify EPA by phone or email as soon as it becomes aware that it has duplicated tracking numbers on...

  16. Manifest requirements. RCRA Information Brief

    SciTech Connect

    Not Available

    1994-04-01

    Specific pretransport regulatory requirements must be met by DOE prior to shipment of hazardous waste, low-level wastes (LLW), and radioactive mixed wastes (RMW). The pretransport requirements are intended to help reduce the risk of loss or leakage of, or exposure to, hazardous wastes, LLW, and RMW during shipment; and to communicate information on potential hazards to shippers, carriers, or receivers of waste shipments, and emergency response personnel in the event of an accident, spill, or leak. These goals are accomplished through tracking of shipments, correct packaging and labeling, and communication of potential hazards. Specific requirements include manifesting, packaging, marking and labeling of waste packages, placarding of vehicles, and selecting appropriate waste transporters and shipment destinations. This Information Brief focuses on the manifesting requirements associated with domestic transport of hazardous wastes, LLW, and RMW.

  17. [Late manifestations of Lyme borreliosis].

    PubMed

    Rossi, M

    2005-11-01

    Month to years after an early local or an early disseminated infection some patients develop late manifestations of lyme borreliosis. Most frequently involved organs are the skin (acrodermatitis chronica atrophicans), joints (Lyme arthritis) and the nervous system. A history of exposure and the clinical picture may suggest Lyme borreliosis, however, confirmation by serological and other tests is needed. Antibiotic treatment during early stages normally prevents development of late manifestations. Late stages persist if not treated. By adequate antimicrobial therapy they are treatable and usually show a good prognosis. Recovery may be delayed, some patients suffer from residual difficulties. Currently there is no accepted case definition for a "post lyme syndrome". The term "chronic Lyme disease" suggests (a never proven) persistent infection by viable bacteria. Repeated and prolonged antibiotic treatments are not indicated. PMID:16350537

  18. Clinical Manifestations of Synovial Cysts

    PubMed Central

    Burt, Todd B.; Gelman, Martin I.; MacCarter, Daryl K.; Samuelson, Cecil O.

    1980-01-01

    Although synovial cysts are most commonly associated with rheumatoid arthritis and osteoarthritis, they may occur in many other conditions. The clinical manifestations of these cysts are numerous and may result from pressure, dissection or acute rupture. Vascular phenomena occur when popliteal cysts compress vessels, and result in venous stasis with subsequent lower extremity edema or thrombophlebitis. Rarely, popliteal cysts may cause arterial compromise with intermittent claudication. Neurological sequelae include pain, paresthesia, sensory loss, and muscle weakness or atrophy. When synovial cysts occur as mass lesions they may mimic popliteal aneurysms or hematomas, adenopathy, tumors or even inguinal hernias. Cutaneous joint fistulas, septic arthritis or osteomyelitis, and spinal cord and bladder compression are examples of other infrequent complications. Awareness of the heterogeneous manifestations of synovial cysts may enable clinicians to avoid unnecessary diagnostic studies and delay in appropriate management. Arthrography remains the definitive diagnostic procedure of choice, although ultrasound testing may be useful. ImagesFig. 1.Fig. 2.Fig. 3. PMID:7233900

  19. Lewin's manifest dream exercise revisited.

    PubMed

    Allison, G H; Loeb, F; Spain, D H

    1993-01-01

    In an institute research class, the validity of Lewin's methodology in his manifest dream exercise was tested by a different approach. Class members developed a questionnaire based on two actual manifest dreams. Responses from six analytic candidates and fifteen graduate analysts were analyzed by two classroom groups, working independently. The data were assessed by two methods and the conclusions were only partially synchronous with Lewin's method of collective free association in which members of the group influenced one another. Our subjects did not influence one another, and they and research class members were "blind" to the dreams' associations, context, and meanings derived years earlier, until after data were assessed and conclusions were reached. One conclusion suggests that intuition as to "correct" meanings may be independent of the number of years of analytic experience. This project is reported to stimulate similar research projects as a regular part of psychoanalytic education. PMID:8426050

  20. Thoracic radiologic manifestations of melioidosis.

    PubMed

    Burivong, Wanaporn; Wu, Xiaohua; Saenkote, Wipawadee; Stern, Eric J

    2012-01-01

    Melioidosis (Burkholderia pseudomallei) is a gram-negative bacterial infection that is highly endemic in Southeast Asia and Oceania. Pulmonary disease is the most common form of involvement. The clinical-radiologic thoracic manifestations of melioidosis can be classified as acute, subacute, subclinical, and chronic forms. Radiographic findings include nodular, alveolar, or mixed infiltration/consolidation with or without cavities. Pleural effusion, pneumothorax, and pericardial involvement can be seen. Melioidosis can easily be confused with other infections, especially tuberculosis. Suspicion of this disease in the proper clinical radiologic setting is important for early diagnosis and treatment. In this article, we provide a broad clinical overview of melioidosis, review the radiologic thoracic manifestations of melioidosis with appropriate clinical correlation, as well as compare and contrast the imaging findings of thoracic melioidosis with other similar pulmonary infections. PMID:23009770

  1. [Pulmonary manifestations in childhood obesity].

    PubMed

    Goţia, Stela; Russu, Georgiana

    2008-01-01

    Obesity has an increasing incidence throughout the world, inducing a complex and multisystemic pathology. The respiratory manifestations are: restrictive respiratory physiology, reduced respiratory compliance, altered ventilation/perfusion index, bronchial hyperresponsiveness. Increases in body mass index (BMI) are associated with increases in prevalence, incidence and severity of bronchial asthma. The mechanic effects of obesity remain important, but the adipocites have many influences by the hormones, leptines, cytokines and other proinflammatory agents. PMID:20201237

  2. Systemic diseases with cutaneous manifestations.

    PubMed

    Merchant, S R; Taboada, J

    1995-07-01

    The purpose of this article is to briefly discuss the following cutaneous manifestations of selected systemic diseases: poxvirus; feline leukemia virus (FeLV); feline immunodeficiency virus (FIV); herpesvirus; calcivirus; pseudorabies; plague; tularemia; toxoplasmosis; leishmania; hypothyroidism; hyperthyroidism; hyperadrenocorticism; diabetes mellitus; acromegaly; thallium poisoning; pancreatic disease; hypereosinophilic syndrome; mucopolysaccharidosis; and pansteatitis. Recognition of these cutaneous signs may help alert the clinician to the possibility of an internal disorder so that the appropriate diagnostic tests can be considered. PMID:8525575

  3. Gastrointestinal manifestations in APECED syndrome.

    PubMed

    Kluger, Nicolas; Jokinen, Martta; Krohn, Kai; Ranki, Annamari

    2013-02-01

    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (or autoimmune polyendocrine syndrome type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene. It causes a loss in central immune tolerance, failure to eliminate autoreactive T cells in the thymus, and their escape to the periphery. APECED patients are susceptible to mucocutaneous candidiasis and multiple endocrine and nonendocrine autoimmune diseases. Although it depends on the series, approximately 25% of APECED patients are affected by gastrointestinal (GI) manifestations, mainly autoimmune-related disorders like autoimmune hepatitis, atrophic gastritis with or without pernicious anemia (Biermer disease), intestinal infections, and malabsorption. In contrast to the major organ-specific autoimmune symptoms of APECED, the GI symptoms and their underlying pathogenesis are poorly understood. Yet isolated case reports and small series depict severe intestinal involvement in children, leading to malabsorption, multiple deficiencies, growth impairment, and possible death. Moreover, very few systematic studies of GI function with intestinal biopsies have been performed. GI symptoms may be the first manifestation of APECED, yet they may have various causes; effective treatment will therefore vary. We provide here an updated review of GI manifestations in APECED, including principles of diagnosis and therapy. PMID:23314667

  4. [Pulmonary manifestations of antisynthetase syndrome].

    PubMed

    Jouneau, S; Hervier, B; Jutant, E-M; Decaux, O; Kambouchner, M; Humbert, M; Delaval, P; Montani, D

    2015-06-01

    Antisynthetase syndrome is an inflammatory myopathy frequently associated with pulmonary manifestations, especially interstitial lung diseases, and uncommonly pulmonary hypertension. In the context of a suggestive clinical and radiological picture, positive anti-RNA synthetase antibodies confirm the diagnosis. Anti-Jo1, anti-PL7, and anti-PL12 antibodies are the more commonly encountered. The presence of a number of extra-thoracic manifestations in association with pulmonary disease may suggest the diagnosis. These include: myalgia or muscular deficit, Raynaud's phenomenon, polyarthritis, fever, mechanics hands. Serum creatine kinase levels are usually increased. Electromyogram, muscular magnetic resonance imaging or muscle pathology are not mandatory to make the diagnosis. There is a high variability in symptoms and severity, between patients but also during the course of the disease in the same patient. The presence of an interstitial lung disease is a major prognostic factor and an indication for more intensive treatment, principally with systemic corticosteroids with or without immunosuppressive drugs. Improving respiratory physicians' knowledge of this disease, which is often revealed by its pulmonary manifestations, should help diagnosis, therapeutic management, and possibly prognosis. PMID:26231412

  5. [Neuropsychiatric manifestations ushering pernicious anemia].

    PubMed

    Mrabet, S; Ellouze, F; Ellini, S; Mrad, M F

    2015-12-01

    Biermer disease or pernicious anemia is an autoimmune atrophic gastritis characterized by the lack of secretion of gastric intrinsic factor. This leads to an insufficient absorption of vitamin B12 in the ileum. Clinical manifestations are mainly hematologic. Neuropsychiatric manifestations are known but are less frequent especially early in the disease. Inaugural neuropsychiatric arrays are rare and various thus making diagnosis difficult. In this article, we report through two clinical cases different neuropsychiatric manifestations revealing pernicious anemia. Mrs. C.O., aged 56, presented after surgery for gallstones, an acute psychiatric array associated with gait disorders. She had no history of neurological or psychiatric problems. The psychiatric interview revealed delirious syndrome, depressive symptoms and anxiety. Neurological examination noted a flaccid paraplegia with peripheral neuropathic syndrome and myoclonus in the upper limbs. At the full blood count, a macrocytosis (VGM: 112.2fl) without anemia was found. The level of vitamin B12 in the blood was low. Cerebro-spinal MRI was suggestive of a neuro-Biermer and showed hypersignal in the cervical cord on T2-weighted sagittal section. In axial section, hypersignal appears at the posterior columns in the form of V. There were no brain abnormalities. A sensorimotor axonal polyneuropathy was diagnosed. The patient received vitamin B12 intramuscularly for ten days associated with neuroleptic treatment. Mrs. R.M., aged 40, was brought to the psychiatry consultation for acute behavioral disorders progressively worsening over a month. An anxiety syndrome, depressive syndrome and delirious syndrome were identified. Neurological examination showed a posterior cordonal syndrome with quadripyramidal syndrome. Full blood count showed a macrocytic anemia. Serum B12 level was collapsed. Cerebro-spinal MRI was normal. She received vitamin B12 with clinical and biological improvement. Features of pernicious anemia vary according to studies and age range. Digestive and hematological manifestations are well known. Neurological and psychiatric manifestations of pernicious anemia were also described in the early literature. They can be the initial symptoms or the only ones. However, inaugural neuropsychiatric features are often unrecognized. The most common psychiatric symptoms were depression, mania, psychotic symptoms, cognitive impairment and obsessive compulsive disorder. Neurological involvement includes mainly combined spinal sclerosis, peripheral neuropathy and dementia. Cerebellar ataxia and movement disorders are reported less often. Severity of neuropsychiatric features and therapeutic efficacy depends on the duration of signs and level of B12 deficiency. Macrocytic anemia may lack. Neuropsychiatric manifestations could be isolated or be the first manifestation of vitamin deficiency and occur without any hematological or gastrointestinal context. Pernicious anemia and serum B12 assay should be discussed in all patients with organic mental disorders, atypical psychiatric symptoms and fluctuation of symptomatology. Nevertheless, B12 level could be normal in genuine pernicious anemia diseases and macrocytic anemia may lack. Substitutive vitaminotherapy is required when diagnosis is strongly suspected and etiologic assessment is negative. PMID:26345354

  6. Clinical manifestations of sleep apnea

    PubMed Central

    2015-01-01

    Obstructive sleep apnea (OSA) may manifest in a number of ways from subtle intrusion into daily life to profound sleepiness, snoring, witnessed apneas and other classic symptoms. Although there is increasing evidence suggesting OSA can adversely affect health in a variety of ways, this disorder remains underdiagnosed. The most well-escribed health consequences of OSA relate to the cardiovascular system. Hypertension and arrhythmias have a strong association with OSA, and evidence suggests that treatment of OSA in patients with refractory hypertension and in patients planning cardioversion for atrial fibrillation may be of particularly importance. Significant associations between heart failure and OSA as well as complex sleep apnea have also been well-described. Cerebrovascular insult, impaired neurocognition, and poorly controlled mood disorder are also associated with in OSA. Therapy for OSA may ameliorate atherosclerotic progression and improve outcomes post-cerebrovascular accident (CVA). OSA should be considered in patients complaining of poor concentration at work, actual or near-miss motor vehicle accidents, and patients with severe sleepiness as a component of their co-morbid mood disorders. The metabolic impact of OSA has also been studied, particularly in relation to glucose homeostasis. Also of interest is the potential impact OSA has on lipid metabolism. The adverse effect untreated OSA has on glucose tolerance and lipid levels has led to the suggestion that OSA is yet another constituent of the metabolic syndrome. Some of these metabolic derangements may be related to the adverse effects untreated OSA has on hepatic health. The cardiovascular, neurocognitive, and metabolic manifestations of OSA can have a significant impact on patient health and quality of life. In many instances, evidence exists that therapy not only improves outcomes in general, but also modifies the severity of co-morbid disease. To mitigate the long-term sequela of this disease, providers should be aware of the subtle manifestations of OSA and order appropriate testing as necessary. PMID:26543619

  7. Cardiac manifestations in systemic sclerosis

    PubMed Central

    Lambova, Sevdalina

    2014-01-01

    Primary cardiac involvement, which develops as a direct consequence of systemic sclerosis (SSc), may manifest as myocardial damage, fibrosis of the conduction system, pericardial and, less frequently, as valvular disease. In addition, cardiac complications in SSc may develop as a secondary phenomenon due to pulmonary arterial hypertension and kidney pathology. The prevalence of primary cardiac involvement in SSc is variable and difficult to determine because of the diversity of cardiac manifestations, the presence of subclinical periods, the type of diagnostic tools applied, and the diversity of patient populations. When clinically manifested, cardiac involvement is thought to be an important prognostic factor. Profound microvascular disease is a pathognomonic feature of SSc, as both vasospasm and structural alterations are present. Such alterations are thought to predict macrovascular atherosclerosis over time. There are contradictory reports regarding the prevalence of atherosclerosis in SSc. According to some authors, the prevalence of atherosclerosis of the large epicardial coronary arteries is similar to that of the general population, in contrast with other rheumatic diseases such as rheumatoid arthritis and systemic lupus erythematosus. However, the level of inflammation in SSc is inferior. Thus, the atherosclerotic process may not be as aggressive and not easily detectable in smaller studies. Echocardiography (especially tissue Doppler imaging), single-photon emission computed tomography, magnetic resonance imaging and cardiac computed tomography are sensitive techniques for earlier detection of both structural and functional scleroderma-related cardiac pathologies. Screening for subclinical cardiac involvement via modern, sensitive tools provides an opportunity for early diagnosis and treatment, which is of crucial importance for a positive outcome. PMID:25276300

  8. Rheumatic manifestations in diabetic patients

    PubMed Central

    Serban, AL; Udrea, GF

    2012-01-01

    Diabetes mellitus (DM), a worldwide high prevalence disease, is associated with a large variety of rheumatic manifestations. For most of these affections, pathophysiologic correlations are not well established. Some of them, such as diabetic cheiroarthropathy, neuropathic arthritis, diabetic amyotrophy, diabetic muscle infraction, are considered intrinsic complications of DM. For others, like diffuse idiopathic skeletal hyperostosis or reflex sympathetic dystrophy, DM is considered a predisposing condition. In most cases, these affections cause pain and disability, affecting the quality of life of diabetic patients, but once correctly diagnosed, they often respond to the treatment, that generally requires a multidisciplinary team. This article reviews some epidemiological, clinical, diagnostic and therapeutic aspects of these conditions. PMID:23049626

  9. Cutaneous manifestation of gastrointestinal disease

    PubMed Central

    Kerstetter, Justin

    2016-01-01

    The gastrointestinal (GI) and cutaneous systems are closely linked in origin. Skin manifestations are frequently seen as a part of different GI syndromes. Gastroenterologists play an important role in recognizing the symptoms, patient workup and arriving at appropriate diagnoses, often in consultation with dermatologists. This review discusses the diseases with both cutaneous and intestinal involvement. Hereditary polyposis GI cancers, hereditary nonpolyposis colorectal cancers (CRCs), hamartomatous disorders, and inflammatory bowel disease (IBD) are reviewed with emphasis on the genetic basis, diagnostic, histologic findings, screening modalities, and therapeutic options.

  10. Microstructure Manifestations in Nuclear Reactions

    NASA Astrophysics Data System (ADS)

    Karamian, S. A.

    2015-06-01

    Photonuclear reaction yields were studies at the range of giant dipole resonance for medium-mass targets and the probabilities for population of different final states were deduced and analyzed. In addition to the expected statistical trends expressed in the influence of the reaction threshold and of the product spin, there are observed the microstructure manifestations due to the individual level schemes of the products. The internal status of nucleons and their single-particle orbital momentum also make influence onto the reaction yield. The effects are isolated on the scale from tens % to orders of magnitude for the probability and branching ratio in reactions at modest energy.

  11. Spinal manifestations of skeletal dysplasias.

    PubMed

    Kornblum, M; Stanitski, D F

    1999-07-01

    Skeletal dysplasias, disorders of abnormal bone and cartilage development, are a heterogeneous group, each disorder with its own genetics, prevalence, prognosis, and treatment. More than 150 distinct conditions have been identified. Despite their obvious differences, the osteochondrodysplasias share many clinical and radiographic features. These patients present to the orthopedic surgeon for evaluation of disproportionate short stature, which may be apparent at birth or manifest itself only with further growth. This article discusses bone dysplasias commonly associated with spinal abnormalities. Spinal pathology can lead to deformity, neurologic sequelae, pain, and cardiopulmonary compromise and further contribute to short stature. PMID:10393771

  12. Otolaryngologic manifestations of Maffucci's syndrome.

    PubMed

    Sun, Gordon H; Myer, Charles M

    2009-07-01

    Maffucci's syndrome is an uncommon congenital disease marked by multiple vascular malformations and enchondromas throughout the body. Otolaryngologic manifestations are relatively rare but potentially can cause symptoms such as respiratory distress and dysphagia if the lesions appear in the upper aerodigestive tract or larynx. We report a case of a young woman who demonstrated a wide range of head and neck pathology associated with this unique disease, including sphenoid enchondroma, bilateral petrous apex lesions, and rarely reported laryngeal and hypopharyngeal vascular malformations, over a period of nearly 20 years. PMID:19394093

  13. Neuropsychiatric manifestations of thyroid disease.

    PubMed

    Feldman, Anna Z; Shrestha, Rupendra T; Hennessey, James V

    2013-09-01

    The interface between thyroid hormone action and neuropsychiatric function is intricate, and several mechanisms of thyroid hormone uptake into brain tissues, hormone activation, and influences on neurotransmitter generation have been identified. Symptoms of hypothyroidism are nonspecific, whereas those attributed to thyrotoxicosis may be more characteristic. Neuropsychiatric manifestations triggered by thyroid dysfunction likely respond well to reestablishment of the euthyroid state, although some patients have persistent complaints. The addition of LT3 to ongoing LT4 replacement has yet to be definitively shown to be advantageous. Treatment of euthyroid depression with LT3 in addition to antidepressant therapy lacks convincing evidence of superior outcomes. PMID:24011880

  14. Cutaneous manifestations of Prototheca infections.

    PubMed

    Boyd, A S; Langley, M; King, L E

    1995-05-01

    The genus Prototheca comprises several species, the most prevalent of which is Prototheca wickerhamii. These achlorophyllic algae are found in the slime flux of trees and in freshwater environs. Cutaneous infection with these microbes was first reported 30 years ago. Subsequent case reports have described other manifestations including systemic disease. Asymptomatic and stationary cutaneous plaques may be seen in otherwise healthy patients. Susceptibility to infection is ill defined but may involve an inability of neutrophils to effectively eradicate phagocytosed organisms. Characteristic morula are seen histologically. Antifungal medications are the most effective therapy. PMID:7722022

  15. 19 CFR 123.32 - Manifests.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... RELATIONS WITH CANADA AND MEXICO Shipments in Transit Through the United States 123.32 Manifests. (a) Form and number of copies required. Three copies of the transportation entry and manifest on Customs...

  16. 19 CFR 123.32 - Manifests.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... CUSTOMS RELATIONS WITH CANADA AND MEXICO Shipments in Transit Through the United States 123.32 Manifests. (a) Form and number of copies required. Three copies of the transportation entry and manifest...

  17. Coronal manifestations of preflare activity

    NASA Technical Reports Server (NTRS)

    Schmahl, E. J.; Webb, D. F.; Woodgate, B.; Waggett, P.; Bentley, R.; Hurford, G.; Schadee, A.; Schrijver, J.; Harrison, R.; Martens, P.

    1986-01-01

    A variety of coronal manifestations of precursors or preheating for flares are discussed. Researchers found that almost everyone with a telescope sees something before flares. Whether an all-encompassing scenario will ever be developed is not at all clear at present. The clearest example of preflare activity appears to be activated filaments and their manifestations, which presumably are signatures of a changing magnetic field. But researchers have seen two similar eruptions, one without any evidence of emerging flux (Kundu et al., 1985) and the other with colliding poles (Simon et al., 1984). While the reconnection of flux is generally agreed to be required to energize a flare, the emergence of flux from below (at least on short timescales and in compact regions) does not appear to be a necessary condition. In some cases the cancelling of magnetic flux (Martin, 1984) by horizontal motions instead may provide the trigger (Priest, 1985) Researchers found similarities and some differences between these and previous observations. The similarities, besides the frequent involvement of filaments, include compact, multiple precursors which can occur both at and near (not at) the flare site, and the association between coronal sources and activity lower in the atmosphere (i.e., transition zone and chromosphere).

  18. 40 CFR 761.210 - Manifest discrepancies.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... Section 761.210 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.210 Manifest discrepancies. (a) Manifest discrepancies are differences between the quantity or type of PCB waste designated on the manifest or...

  19. 40 CFR 761.210 - Manifest discrepancies.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... Section 761.210 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.210 Manifest discrepancies. (a) Manifest discrepancies are differences between the quantity or type of PCB waste designated on the manifest or...

  20. 40 CFR 761.215 - Manifest discrepancies.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... Section 761.215 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.215 Manifest discrepancies. (a) Manifest... quantity or type of PCB waste designated on the manifest or shipping paper, and the quantity and type...

  1. 40 CFR 761.215 - Manifest discrepancies.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... Section 761.215 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.215 Manifest discrepancies. (a) Manifest... quantity or type of PCB waste designated on the manifest or shipping paper, and the quantity and type...

  2. Cardiac manifestations in Behcet's disease

    PubMed Central

    Demirelli, Selami; Degirmenci, Husnu; Inci, Sinan; Arisoy, Arif

    2015-01-01

    Summary Behcet's disease (BD) is a chronic inflammatory disorder, with vasculitis underlying the pathophysiology of its multisystemic effects. Venous pathology and thrombotic complications are hallmarks of BD. However, it has been increasingly recognised that cardiac involvement and arterial complications are also important aspects of the course of the disease. Cardiac lesions include pericarditis, endocarditis, intracardiac thrombosis, myocardial infarction, endomyocardial fibrosis, and myocardial aneurysm. Treatment of cardiovascular involvement in BD is largely empirical, and is aimed towards suppressing the vasculitis. The most challenging aspect seems to be the treatment of arterial aneurysms and thromboses due to the associated risk of bleeding. When the prognosis of cardiac involvement in BD is not good, recovery can be achieved through oral anticoagulation, immunosuppressive therapy, and colchicine use. In this review, we summarise the cardiovascular involvement, different manifestations, and treatment of BD. PMID:25984424

  3. Macroscopic manifestations of surface crystallization

    NASA Astrophysics Data System (ADS)

    Gang, H.; Patel, J.; Wu, X. Z.; Deutsch, M.; Gang, O.; Ocko, B. M.; Sirota, E. B.

    1998-08-01

    Two rather dramatic and unusual, visually observable phenomena occurring in molten wax, are reported and explained: Shaking the liquid in a vial will yield a foam, even though no surfactant is present; dust spread on the liquid surface is seen to move laterally with surprising speed. We performed systematic measurements on a single-component wax, the n-alkane C20H42, visualizing the surface under linear temperature gradients and in the presence of gas slowly bubbling from below. These macroscopic effects are studied quantitatively, and shown to be macroscopic manifestations of the existence of a monomolecular crystalline alkane layer at the liquid-vapor interface. A proposed phase diagram for the thin bubble wall is shown to account for the bubbles' coalescence and bursting behavior. These results imply the existence of a new mechanism for foam stability and can be expected to broadly occur in systems containing alkyl-chains.

  4. Extraintestinal manifestations of celiac disease.

    PubMed

    Hernandez, Lincoln; Green, Peter H

    2006-10-01

    Celiac disease is an autoimmune disorder that occurs in genetically predisposed individuals as the result of an immune response to gluten. It is present in approximately 1% of the population. Diarrhea has become a less common mode of presentation (<50% of cases) than it once was. Other presentations include iron-deficiency anemia, osteoporosis, dermatitis herpetiforme, and neurologic disorders, mainly peripheral neuropathy and ataxia. Arthritis is commonly found in patients with celiac disease when systematically sought. Overall, autoimmune diseases occur more frequently (three to ten times more) in those with celiac disease than in the general population. A gluten-free diet is the standard of treatment, although its effect on some of the extraintestinal manifestations remains to be determined. PMID:16968605

  5. Musculoskeletal manifestations of diabetes mellitus.

    PubMed

    Merashli, M; Chowdhury, T A; Jawad, A S M

    2015-11-01

    The prevalence of Type 1 and Type 2 diabetes are increasing significantly worldwide. Whilst vascular complications of diabetes are well recognized, and account for principle mortality and morbidity from the condition, musculoskeletal manifestations of diabetes are common and whilst not life threatening, are an important cause of morbidity, pain and disability. Joints affected by diabetes include peripheral joints and the axial skeleton. Charcot neuroarthropathy is an important cause of deformity and amputation associated with peripheral neuropathy. A number of fibrosing conditions of the hands and shoulder are recognized, including carpal tunnel syndrome, adhesive capsulitis, tenosynovitis and limited joint mobility. People with diabetes are more prone to gout and osteoporosis. Management of these conditions requires early recognition and close liaison between diabetes and rheumatology specialists. PMID:26025688

  6. Orthopaedic manifestations of Lyme disease.

    PubMed

    Jouben, L M; Steele, R J; Bono, J V

    1994-05-01

    Lyme disease is caused by the spirochete Borrelia burgdorferi and is transmitted by the Ixodes tick. Early diagnosis is difficult because the tick bite may go unnoticed and the distinguishing rash, erythema chronicum migrans, often does not occur. Serologic tests are both sensitive and specific in the later stages of the disease but not in stage 1. Thus diagnosis of Lyme disease remains clinical. Knowledge of the orthopaedic manifestations of Lyme disease may aid in early diagnosis and help differentiate from possible cases of juvenile rheumatoid arthritis and septic arthritis. If septic arthritis is suspected, appropriate antibiotic therapy should be initiated while awaiting serology for Lyme disease. Recurrence of Lyme arthritis following antibiotic treatment is rare. Lyme disease should be considered in any patient with arthritis and a history of rash, fever, or neurologic or cardiac abnormality. PMID:8041573

  7. Pulmonary Manifestations of Neuromuscular Diseases.

    PubMed

    Khatwa, Umakanth Amabalalsa; Dy, Fei Jamie

    2015-09-01

    Neuromuscular disorders comprise a phenotypically diverse group of inherited and acquired diseases; however, they share common pathophysiologic mechanisms which produce significant respiratory complications. Respiratory and bulbar muscle weakness gives rise to ineffective cough, swallowing dysfunction results in aspiration-related lung disease, and abnormal muscle tone produces chest wall deformities - all of which ultimately leads to repeated chest infections and chronic respiratory failure. In this article, the authors describe the respiratory manifestations of neuromuscular disease and their underlying pathophysiological mechanisms. This review also highlights the diagnostic and management tools recommended for acute and chronic care. Aggressive pulmonary management is the most impactful at reducing the overall morbidity and improving the quality of life of children with neuromuscular disorders, at least while definitive molecular and gene replacement therapies remain elusive. PMID:26199075

  8. Manifestations of Systemic Lupus Erythematosus

    PubMed Central

    COJOCARU, Manole; COJOCARU, Inimioara Mihaela; SILOSI, Isabela; VRABIE, Camelia Doina

    2011-01-01

    ABSTRACT Systemic lupus erythematosus (SLE) is a chronic, multifaceted autoimmune inflammatory disease that can affect any part of the body. SLE is a disease of unknown aetiology with a variety of presenting features and manifestations. Interest in the disease has been stimulated in recent years, and improved methods of diagnosis have resulted in a significant increase in the number of cases recognized. It is apparent that it can no longer be regarded as a rare disease. The majority of the pathology in SLE is related to deposits of immune complexes in various organs, which triggers complement and other mediators of inflammation. Symptoms vary from person to person, and may come and go, depend on what part of the body is affected, can be mild, moderate, or severe. Diagnosis can be difficult because lupus mimics many other diseases; it requires clinical and serologic criteria. PMID:22879850

  9. Oropharyngeal dysphagia: manifestations and diagnosis.

    PubMed

    Rommel, Nathalie; Hamdy, Shaheen

    2016-01-01

    Swallowing disorders (dysphagia) have been recognized by the WHO as a medical disability associated with increased morbidity, mortality and costs of care. With increasing survival rates and ageing of the population, swallowing disorders and their role in causing pulmonary and nutritional pathologies are becoming exceedingly important. Over the past two decades, the study of oropharyngeal dysphagia has been approached from various disciplines with considerable progress in understanding its pathophysiology. This Review describes the most frequent manifestations of oropharyngeal dysphagia and the clinical as well as instrumental techniques that are available to diagnose patients with dysphagia. However, the clinical value of these diagnostic tests and their sensitivity to predict outcomes is limited. Despite considerable clinical research efforts, conventional diagnostic methods for oropharyngeal dysphagia have limited proven accuracy in predicting aspiration and respiratory disease. We contend that incorporation of measurable objective assessments into clinical diagnosis is needed and might be key in developing novel therapeutic strategies. PMID:26627547

  10. Oral manifestations in transplant patients

    PubMed Central

    Nappalli, Deepika; Lingappa, Ashok

    2015-01-01

    Organ transplantation is a widely undertaken procedure and has become an important alternative for the treatment of different end-stage organ diseases that previously had a poor prognosis. The field of organ transplant and hematopoietic stem cell transplant is developing rapidly. The increase in the number of transplant recipients also has an impact on oral and dental services. Most of the oral problems develop as a direct consequence of drug-induced immunosuppression or the procedure itself. These patients may present with oral complaints due to infections or mucosal lesions. Such lesions should be identified, diagnosed, and treated. New treatment strategies permit continuous adaptation of oral care regimens to the changing scope of oral complications. The aim of this review is to analyze those oral manifestations and to discuss the related literature. PMID:26005458

  11. Cutaneous manifestations of lupus erythematosus.

    PubMed

    Parodi, A; Cozzani, E

    2014-10-01

    Cutaneous involvement in case of lupus erythematosus (LE) is very frequent and can present both specific or non-specific manifestations. LE specific lesions can be classified in acute, subacute and chronic cutaneous LE lesions. All of them can be localized and generalized. The LE non specific lesions are not exclusive to LE disease but are often seen in patients with active systemic LE. All the cutaneous lesions are often induced or aggravated by ultraviolet light, in fact they are usually localized in sun-exposed areas. Acute cutaneous LE is associated with systemic disease, subacute cutaneous LE has been considered a subset of its own since 1979 when it was first described, chronic cutaneous LE is the most common subtype of LE. Although less frequently also the chronic cutaneous lesions can be an aspect of systemic LE (25%). PMID:25077888

  12. Neurodevelopmental Manifestations of Mitochondrial Disease

    PubMed Central

    Falk, Marni J.

    2014-01-01

    Mitochondrial disease is an increasingly recognized but widely heterogeneous group of multi-systemic disorders that commonly involve severe neurodevelopmental manifestations in childhood. This article will review the presentation, genetic basis, and diagnostic evaluation of primary mitochondrial disease. Emphasis will be placed on neurodevelopmental findings that may be encountered by a Developmental Pediatrician that should provoke consideration of a mitochondrial disorder. The inheritance patterns and mechanisms by which mutations in genes located in either the nuclear or mitochondrial genomes can cause mitochondrial diseases will be discussed. A general overview of the current diagnostic evaluation that can be readily initiated by the Developmental Pediatrician will be provided, along with a summary of currently available treatment options. PMID:20814259

  13. Neurologic manifestations of Angelman syndrome.

    PubMed

    Thibert, Ronald L; Larson, Anna M; Hsieh, David T; Raby, Annabel R; Thiele, Elizabeth A

    2013-04-01

    Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or mutation of the maternally inherited 15q11.2-13.1 region, paternal uniparental disomy of chromosome 15, or an imprinting error. Epilepsy is common and may present with multiple seizure types, including nonconvulsive status epilepticus. Seizures are often intractable and typically require broad-spectrum antiepileptic medications. Dietary therapy has also proved successful in Angelman syndrome. Electroencephalographic patterns include notched ? and rhythmic ? activity and epileptiform discharges. Sleep disorders are also common, often characterized by abnormal sleep-wake cycles. Movement disorders are nearly universal in Angelman syndrome, most frequently presenting with ataxia and tremor. Neurocognitive impairment is always present to varying degrees, and expressive speech is typically severely affected. Individuals with Angelman syndrome often manifest psychiatric comorbidities including hyperactivity, anxiety, and challenging behaviors such as aggression and self-injury. We focus on a comprehensive whole-child approach to the diagnosis and long-term clinical care of individuals with Angelman syndrome. PMID:23498559

  14. Dermatological manifestations of Down's syndrome.

    PubMed

    Madan, V; Williams, J; Lear, J T

    2006-09-01

    Down's syndrome (DS) is associated with rare dermatological disorders and increased frequency of some common dermatoses. Owing to advances in medical care and changes in attitude, the median age of death in this population has increased to 49 years, and the life expectancy of a 1-year-old person with DS today is more than 60 years and is likely to improve. With the increase in the number of individuals with DS in the population and an increased life span, dermatologists are more likely to encounter the wide spectrum of dermatological disorders that occurs in these patients. Furthermore, new reports of possible associations are frequent in the literature. The purpose of this article is to discuss the various dermatological conditions that affect DS individuals. A brief overview is given of the new information on genetics and the immunology of DS. We also discuss the molecular mechanisms of premature ageing, to which DS individuals are prone. We review the literature and discuss the known dermatological manifestations, concentrating on recent reports. PMID:16901300

  15. Ocular manifestations of frontonasal dysplasia.

    PubMed

    Roarty, J D; Pron, G E; Siegel-Bartelt, J; Posnick, J C; Buncic, J R

    1994-01-01

    The ophthalmologic findings associated with frontonasal dysplasia have not been defined previously in a large series of untreated children. We reviewed the ophthalmic manifestations of a series of patients with frontonasal dysplasia who were seen as part of their craniofacial evaluation. All had undergone a complete ophthalmologic examination before any manipulation of either the orbits or the soft tissues of the orbital contents. From 1986 to 1991, 23 patients with frontonasal dysplasia were seen; ophthalmologic abnormalities were found in 20 (87 percent). Abnormalities included significant refractive errors, strabismus, nystagmus, and eyelid ptosis. Three patients had amblyopia, a treatable cause of visual loss, from strabismus or anisometropia. Ten eyes in seven patients (30 percent) had severe structural anomalies, such as optic nerve hypoplasia, optic nerve colobomas, microphthalmia, cataract, corneal dermoid, or inflammatory retinopathy, that resulted in an acuity of 20/100 or worse. The high incidence of ocular abnormalities indicates that early assessment by an ophthalmologist should be part of the initial evaluation of patients with frontonasal dysplasia to detect treatable visual or ocular problems. PMID:8278482

  16. Gastrointestinal manifestations of Behcet's disease.

    PubMed

    Bayraktar, Y; Ozaslan, E; Van Thiel, D H

    2000-03-01

    Behcet's disease (BD) is a multisystem, chronic, relapsing vasculitis of unknown origin that affects nearly all organs and systems. While recurrent oral ulcerations are a "sine qua non" of BD, the frequency of extra-oral parts of the gastrointestinal involvement varies widely in different countries. The most frequent extra-oral sites of gastrointestinal involvement are the ileocecal region and the colon. The liver (except with Budd-Chiari syndrome), pancreas, and spleen are rarely involved. The symptoms associated with these extra-oral manifestations of BD are abdominal pain, nausea, vomiting, diarrhea with or without blood, and constipation. The lesions typically are resistant to medical treatment and frequently recur with surgical treatment. We review the literature regarding the gastrointestinal and hepatobiliary systems in BD. Also, we present a patient who had BD complicated with radiologically-proven hepatic veins involvement (Budd-Chiari syndrome) and complete occlusion of hepatic portion of inferior vena cava and who had a good response to colchicine and penicillin treatment. PMID:10730919

  17. Esophageal manifestations of celiac disease.

    PubMed

    Lucendo, A J

    2011-09-01

    Celiac disease (CD) may often be associated with various motor disorders affecting the different segments of the digestive tract, including the esophagus. Although it has not been universally reported, some available evidences indicate that pediatric and adult celiac patients could manifest a higher frequency of esophagitis and gastroesophageal reflux disease-related symptoms compared to nonceliac patients. In addition, several published studies have consistently shown the efficacy of a gluten-free diet in rapidly controlling esophageal symptoms and in preventing their recurrence. Since the participation of gluten in the esophageal symptoms of CD seems clear, its intimate mechanisms have yet to be elucidated, and several hypothesis have been proposed, including the specific immune alterations characterizing CD, the reduction in nutrient absorption determining the arrival of intact gluten to distal gastrointestinal segments, and various dysregulations in the function of gastrointestinal hormones and peptides. Recent studies have suggested the existence of a possible relationship between CD and eosinophilic esophagitis, which should be more deeply investigated. PMID:21438963

  18. Ocular Manifestations of Acquired Immunodeficiency Syndrome

    PubMed Central

    Kim, Young Shin; Sun, Hae Jung; Kim, Tae Hyong; Kang, Kui Dong

    2015-01-01

    Purpose To investigate the patterns and risk factors of the ocular manifestations of acquired immunodeficiency syndrome (AIDS) and their correlation with CD4+ count in the era of highly active antiretroviral therapy (HAART). Methods This retrospective study examined 127 AIDS patients who presented to Soonchunhyang University Hospital. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included the best-corrected visual acuity, intraocular pressure, anterior segment and adnexal examination, and dilated fundus examination. Results Of the 127 patients with AIDS, 118 were on HAART and 9 were not. The mean CD4+ count was 266.7 ± 209.1 cells/µL. There were ocular manifestations in 61 patients (48.0%). The incidence of anterior segment manifestations was higher than posterior segment manifestations at 28.3% and 19.7%, respectively. The mean CD4+ count was significantly (p < 0.05) lower in the patients with posterior versus anterior segment ocular manifestations. The most common ocular manifestation was retinal microvasculopathy (15.0%), followed by keratoconjunctivitis sicca (14.2%), conjunctival microvasculopathy (9.4%), cytomegalovirus retinitis (3.1%), herpes zoster ophthalmicus (2.4%), and blepharitis (1.6%). Retinal microvasculopathy and cytomegalovirus retinitis were common in patients with CD4+ counts <200 cells/µL, while keratoconjunctivitis sicca and conjunctival microvasculopathy were common in patients with CD4+ counts of 200 to 499 cells/µL. There was a significant (p < 0.05) association between ocular manifestation and CD4+ count or age. Conclusions The introduction of HAART has changed the landscape of ocular presentations in patients with AIDS. In this study, anterior segment and external ocular manifestations occurred more frequently than posterior segment manifestations. Also, the mean CD4+ count was significantly lower in patients with posterior segment ocular manifestations versus anterior segment ocular manifestations. We found that CD4+ count and age >35 years were independent risk factors for developing ocular manifestations. PMID:26240508

  19. Extrahepatic manifestations of hepatitis E virus.

    PubMed

    Kamar, Nassim; Marion, Olivier; Abravanel, Florence; Izopet, Jacques; Dalton, Harry R

    2016-04-01

    Hepatitis E virus can cause acute, fulminant and chronic hepatitis and has been associated with a range of extrahepatic manifestations. Guillain-Barré syndrome, neuralgic amyotrophy and encephalitis are the main neurological manifestations associated with acute and chronic hepatitis E virus infection. Renal injuries have been also reported, including membranoproliferative glomerulonephritis with or without cryoglobulinemia and membranous glomerulonephritis. Acute pancreatitis, haematological disorders and other autoimmune extrahepatic manifestations of hepatitis E virus, such as myocarditis and thyroiditis, have been also reported. In this comprehensive article, we review all published reports describing hepatitis E virus-associated extrahepatic manifestations. PMID:27005692

  20. Ocular manifestations of genetic skin disorders.

    PubMed

    Jen, Melinda; Nallasamy, Sudha

    2016-01-01

    Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Ophthalmologic examination can aid in diagnosis when characteristic findings are seen. The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue. PMID:26903188

  1. Ocular manifestations of HIV infection.

    PubMed Central

    Jabs, D A

    1995-01-01

    OBJECTIVE: To evaluate the frequency of ocular complications and the clinical outcomes of these complications in patients with various stages of HIV infection. METHODS: Retrospective review of all HIV-infected patients seen in an AIDS ophthalmology clinic from November 1983 through December 31, 1992. RESULTS: Eleven-hundred sixty-three patients were seen for ophthalmologic evaluation. Of these, 781 had the acquired immune deficiency syndrome (AIDS), 226 had symptomatic HIV infection (AIDs-related complex [ARC]), and 156 had asymptomatic HIV infection. Non-infectious HIV retinopathy was the most common ocular complication, affecting 50% of the patients with AIDS, 34% of the patients with ARC, and 3% of the patients with asymptomatic HIV infection. Cytomegalovirus (CMV) retinitis was the most common opportunistic ocular infection, affecting 37% of the patients with AIDS. Other opportunistic ocular infections, including ocular toxoplasmosis, varicella zoster virus retinitis, and Pneumocystis choroidopathy were all much less common, each occurring in < or = 1% of the patients with AIDS. Treatment of CMV retinitis with either foscarnet or ganciclovir was successful in initially controlling the retinitis. However, relapse represented a significant problem and required frequent re-inductions. As a consequence of the retinal damage associated with relapse, loss of visual acuity occurred. The median time to a visual acuity of 20/200 or worse for all eyes with CMV retinitis was 13.4 months, and the median time to a visual acuity of 20/200 or worse in the better eye was 21.1 months. At last follow-up, 75% of the patients had a final visual acuity of 20/40 or better in at least one eye. Retinal detachments were a frequent ophthalmologic complication of CMV retinitis with a cumulative probability of a retinal detachment in at least one eye of 57% at 12 months after the diagnosis of CMV retinitis. Herpes zoster ophthalmicus developed in 3% of the overall series and was seen in all stages of HIV infection. Fifty-six percent of the cases of ocular toxoplasmosis had simultaneous toxoplasmic cerebritis. Ocular toxoplasmosis responded to standard anti-microbial therapy. Varicella zoster virus retinitis, when manifested by the acute retinal necrosis (ARN) syndrome, responded to intravenous acyclovir therapy. Conversely, in a limited number of patients with the progressive outer retinal necrosis syndrome, the disease responded poorly to intravenous acyclovir therapy, but appeared to respond to combination foscarnet and acyclovir therapy. Neuro-ophthalmic lesions were present in 6% of the patients with AIDS. The most common cause of a neuro-ophthalmic lesion was cryptococcal meningitis, and 25% of the patients with cryptococcal meningitis developed a neuro-ophthalmic complication. CONCLUSIONS: Ocular manifestations are common in patients with AIDS. CMV retinitis represented a major vision-threatening problem in these patients. While available therapy was successful in initially controlling the retinitis, the phenomenon of relapse resulted in some degree of long-term visual loss. Preservation of the patient's visual acuity in at least one eye was generally successful. Other opportunistic ocular infections were substantially less common than CMV retinitis but require aggressive therapy. Images FIGURE 1 FIGURE 2 FIGURE 3 FIGURE 4 FIGURE 5 FIGURE 6 PMID:8719695

  2. Cutaneous manifestations in anorexia nervosa.

    PubMed

    Hediger, C; Rost, B; Itin, P

    2000-04-22

    Anorexia nervosa is an eating disorder among adolescent girls and young women which, though common, often goes undetected and untreated. Anorexia nervosa is a response for young people with psychological conflicts who try to win love by having a body corresponding to the present-day image, symbolising strength, beauty, attraction, power and success. Anorexia nervosa involves inadequate calorie intake leading to marked cachexia with metabolic and endocrinological disturbances. We investigated dermatological changes in 21 young female anorectics aged 19-24 in an attempt to find dermatological markers which mirror the dynamics of the disease and thus obtain helpful signs for early diagnosis with its important bearing on the outcome. Extensive histories were taken and whole-body examinations performed. Seven sex- and age-matched persons served as a control group. The most common dermatological findings were xerosis (71%, controls 29%), cheilitis (76%), bodily hypertrichosis (62%), alopecia (24%), dry scalp hair (48%), acral coldness (38%), acrocyanosis (33%), periungual erythema (48%), gingival changes (37%), nail changes (29%) and calluses on dorsum of hand due to self-induced vomiting (67%). Our study documented for the first time that a body mass index of < or = 16 (kg/m2) can be considered a critical value at which skin changes are more frequent. There are remarkable similarities between cutaneous manifestations in anorexia nervosa and in HIV infection. Patients with anorexia nervosa develop early stereotype skin changes which are cardinal diagnostic symptoms and pointers to the diagnosis of eating disorders. During training at the Department of Child and Adolescent Psychiatry in Solothurn one of us (C. H.) was once more able to observe most of the above-described cutaneous and mucocutaneous changes in anorexic adolescents. This paper is intended to stimulate further basic research on this topic. We hope our study will facilitate early diagnosis of anorexia nervosa by the family physician and enable him or her to institute immediate treatment for the eating disorder and thereby improve the prognosis. PMID:10842772

  3. Protean Manifestations of Neonatal Hyperinsulinism

    PubMed Central

    Mayer, Thom; Matlak, Michael E.; Lowry, Stephen F.; Gooch, W. Manford; Johnson, Dale G.

    1981-01-01

    Endogenous hyperinsulinism is the leading cause of persistent hypoglycemia in children under one year of age. Classically, the symptoms of neonatal hypoglycemia have been referable to central nervous system dysfunction, with seizures described in nearly all patients. Our experience with eight neonates emphasizes the protean manifestations of this disease. One patient presented with a maternal history of diuretic use, and developed asymptomatic hyperinsulinism documented by provocative testing. The hyperinsulinism cleared after two weeks of medical therapy. This transient hyperinsulinism may have been secondary to use of a thiazide-type diuretic. A second patient presented, as a neonate, with a large abdominal mass but no seizure activity. Exploratory laparotomy revealed an 11 x 5 x 3 cm pancreatic tumor, which required splenectomy, 60% gastrectomy and duodenectomy for removal. Histologic examination demonstrated an insulin-secreting hamartoma. A third patient died suddenly without prior symptoms, and was found to have striking nesidioblastosis on pathologic examination. One infant presented with absence of the abdominal musculature (prune belly syndrome) and features of the Beck-with-Wiedeman syndrome, as well as profound hypoglycemia. Only three patients had seizures, and an additional patient had jitteriness. Pathologic diagnoses were: nesidioblastosis (n = 2); islet cell hyperplasia (n = 1); adenoma (n = 1); hamartoma (n = 1); transient hyperinsulinism (n = 1). One patient's pancreas showed areas of nesidioblastosis, islet cell hyperplasia, and a discrete adenoma in the region of the common bile duct. Careful diagnostic testing is essential in these patients, inasmuch as hypoglycemia is poorly tolerated by neonates and infants. Using the diagnostic algorithm presented here, all patients' endogenous hyperinsulinism was documented quickly and efficiently. Recognition of the broad spectrum of symptoms with which these patients may present is essential if serious neurologic sequelae are to be avoided. PMID:7259339

  4. Skin manifestations in primary immunodeficient children.

    PubMed

    Al-Herz, Waleed; Nanda, Arti

    2011-01-01

    Skin manifestations are prevalent in primary immunodeficiency disorders (PID). In a large proportion of patients, they manifest as presenting signs and serve as important factors for the early diagnosis of PID. Only a few studies describing the spectrum of skin disorders in PID are available. The objective of the current study was to determine the prevalence and characteristics of skin manifestations in children with PID. Participants were 128 pediatric patients with PID (aged <16 years) registered prospectively over 6 years. Skin manifestations were observed in 61 patients (48%), and those manifestations were the presenting features in 50 (39% of total PID and 82% of those with skin lesions). Skin infections were the most prevalent manifestations, seen in 39 patients (30%), followed by eczemas in 24 (19%). Skin infections were significantly more prevalent in those with congenital defects in phagocyte number, function, or both, as well as in those with well-defined immunodeficiencies. Although widely present in all participants with PID, eczema was a consistent feature (100%) in patients with hyper IgE syndrome and Wiskott-Aldrich syndrome (WAS). Erythroderma of infancy with diffuse alopecia was seen exclusively in patients with severe combined immunodeficiency disorders, telangiectasia in patients with ataxia telangiectasia, and partial albinism with silvery gray hair in those with Chediak-Higashi syndrome. Autoimmune skin manifestations were observed in 6% of reported cases of PID. This study highlights the importance of awareness of skin manifestations of PID to assist in the early diagnosis and management of these disorders. PMID:21453308

  5. 21 CFR 11.50 - Signature manifestations.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 1 2012-04-01 2012-04-01 false Signature manifestations. 11.50 Section 11.50 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ELECTRONIC RECORDS; ELECTRONIC SIGNATURES Electronic Records 11.50 Signature manifestations. (a) Signed electronic records shall contain information...

  6. 21 CFR 11.50 - Signature manifestations.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 1 2013-04-01 2013-04-01 false Signature manifestations. 11.50 Section 11.50 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ELECTRONIC RECORDS; ELECTRONIC SIGNATURES Electronic Records 11.50 Signature manifestations. (a) Signed electronic records shall contain information...

  7. ManifestAR: an augmented reality manifesto

    NASA Astrophysics Data System (ADS)

    Freeman, John Craig

    2012-03-01

    ManifestAR is an international artists' collective working with emergent forms of augmented reality as interventionist public art. The group sees this medium as a way of transforming public space and institutions by installing virtual objects, which respond to and overlay the configuration of located physical meaning. This paper will describe the ManifestAR vision, which is outlined in the groups manifesto.

  8. 19 CFR 128.21 - Manifest requirements.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 1 2010-04-01 2010-04-01 false Manifest requirements. 128.21 Section 128.21 Customs Duties U.S. CUSTOMS AND BORDER PROTECTION, DEPARTMENT OF HOMELAND SECURITY; DEPARTMENT OF THE TREASURY EXPRESS CONSIGNMENTS Procedures 128.21 Manifest requirements. (a) Additional information. Express consignment operators and carriers...

  9. 40 CFR 761.208 - Obtaining manifests.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... print the manifest under 40 CFR 262.21 (c) and (e). A registered source may be a: (i) State agency; (ii... 761.208 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES CONTROL... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.208 Obtaining manifests. (a)(1) A generator may...

  10. 40 CFR 761.208 - Obtaining manifests.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... print the manifest under 40 CFR 262.21 (c) and (e). A registered source may be a: (i) State agency; (ii... 761.208 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES CONTROL... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.208 Obtaining manifests. (a)(1) A generator may...

  11. [Extra-digestive manifestations of food allergy].

    PubMed

    Vandenplas, Y; Loeb, H

    1994-01-01

    Intestinal manifestations are the predominant symptoms of food allergy. Nevertheless, it is generally accepted that dietary proteins can also induce intestinal manifestations such as systemic reactions or symptoms related to the skin, the respiratory tract, the central nervous system, the urinary tract, the vascular system, the joints. The cause-effect relationships between the contact with the dietary protein (e.g. it is unclear if direct skin contact is more relevant in patients with cutaneous manifestations than ingestion) and the symptoms if often difficult to prove. As a consequence, the number of "extra-intestinal" manifestations that are suggested to be related to food proteins is probably greater than the number of manifestations that are generally accepted as such. PMID:8087223

  12. 78 FR 11877 - Announcement of Requirements Gathering Meetings for the Electronic Manifest (e-Manifest) System

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-20

    ... inefficiencies associated with the use of paper manifest forms (66 FR 28240). Although comments generally... electronically completing and transmitting manifests through a national, centralized e-Manifest system (71 FR... From the Federal Register Online via the Government Publishing Office ENVIRONMENTAL...

  13. Extraglandular manifestations of primary Sjgren's syndrome.

    PubMed

    Ienopoli, Sabatino; Carsons, Steven E

    2014-02-01

    Sjgren syndrome is a chronic autoimmune disease that typically affects the salivary and lacrimal glands. Aside from the common glandular signs and symptoms, Sjgren syndrome may also cause mononuclear infiltration and immune complex deposition involving extraglandular sites producing several extraglandular manifestations (EGM). The prevalence of EGMs varies greatly depending on the particular manifestation. This article examines the ways that EGMs may present in patients with primary Sjgren syndrome. The focus is on the more prevalent and significant EGMs including involvement of the nervous system, pulmonary manifestations, vasculitis associated with primary Sjgren syndrome, and arthropathy. PMID:24287197

  14. Genetic alterations in syndromes with oral manifestations

    PubMed Central

    Anuthama, Krishnamurthy; Prasad, Harikrishnan; Ramani, Pratibha; Premkumar, Priya; Natesan, Anuja; Sherlin, Herald J.

    2013-01-01

    Ever since Gregor Johan Mendel proposed the law of inheritance, genetics has transcended the field of health and has entered all walks of life in its application. Thus, the gene is the pivoting factor for all happenings revolving around it. Knowledge of gene mapping in various diseases would be a valuable tool in prenatally diagnosing the condition and averting the future disability and stigma for the posterity. This article includes an array of genetically determined conditions in patients seen at our college out-patient department with complete manifestation, partial manifestation and array of manifestations not fitting into a particular syndrome. PMID:24379857

  15. Paraneoplastic cutaneous manifestations: concepts and updates*

    PubMed Central

    da Silva, Josenilson Antnio; Mesquita, Kleyton de Carvalho; Igreja, Ana Carolina de Souza Machado; Lucas, Isabella Cristina Rodrigues Naves; Freitas, Aline Ferreira; de Oliveira, Sandra Maximiano; Costa, Izelda Maria Carvalho; Campbell, Iphis Tenfuss

    2013-01-01

    The skin often signals systemic changes. Some neoplastic diseases that affect internal organs may trigger several cutaneous manifestations. Although these dermatoses are relatively unusual, the recognition of some typical paraneoplastic dermatoses may lead to the early diagnosis of a neoplasm and determine a better prognosis. In this review article, we discuss the paraneoplastic cutaneous manifestations strongly associated with neoplasms, which include acanthosis nigricans maligna, tripe palms, erythema gyratum repens, Bazex syndrome, acquired hypertrichosis lanuginosa, necrolytic migratory erythema, Leser-Trlat sign and paraneoplastic pemphigus. We also review the clinical manifestations of each condition and include updated knowledge on disease pathogenesis. PMID:23538999

  16. Musculoskeletal manifestations of the antiphospholipid syndrome.

    PubMed

    Noureldine, M H A; Khamashta, M A; Merashli, M; Sabbouh, T; Hughes, G R V; Uthman, I

    2016-04-01

    The scope of clinical and laboratory manifestations of the antiphospholipid syndrome (APS) has increased dramatically since its discovery in 1983, where any organ system can be involved. Musculoskeletal complications are consistently reported in APS patients, not only causing morbidity and mortality, but also affecting their quality of life. We reviewed all English papers on APS involvement in the musculoskeletal system using Google Scholar and Pubmed; all reports are summarized in a table in this review. The spectrum of manifestations includes arthralgia/arthritis, avascular necrosis of bone, bone marrow necrosis, complex regional pain syndrome type-1, muscle infarction, non-traumatic fractures, and osteoporosis. Some of these manifestations were reported in good quality studies, some of which showed an association between aPL-positivity and the occurrence of these manifestations, while others were merely described in case reports. PMID:26923284

  17. Endocrine disorders and the neurologic manifestations

    PubMed Central

    2014-01-01

    The nervous system and the endocrine system are closely interrelated and both involved intimately in maintaining homeostasis. Endocrine dysfunctions may lead to various neurologic manifestations such as headache, myopathy, and acute encephalopathy including coma. It is important to recognize the neurologic signs and symptoms caused by the endocrine disorders while managing endocrine disorders. This article provides an overview of the neurologic manifestations found in various endocrine disorders that affect pediatric patients. It is valuable to think about 'endocrine disorder' as a cause of the neurologic manifestations. Early diagnosis and treatment of hormonal imbalance can rapidly relieve the neurologic symptoms. Better understanding of the interaction between the endocrine system and the nervous system, combined with the knowledge about the pathophysiology of the neurologic manifestations presented in the endocrine disorders might allow earlier diagnosis and better treatment of the endocrine disorders. PMID:25654063

  18. Mucocutaneous manifestations of helminth infections: Nematodes.

    PubMed

    Lupi, Omar; Downing, Christopher; Lee, Michael; Pino, Livia; Bravo, Francisco; Giglio, Patricia; Sethi, Aisha; Klaus, Sidney; Sangueza, Omar P; Fuller, Claire; Mendoza, Natalia; Ladizinski, Barry; Woc-Colburn, Laila; Tyring, Stephen K

    2015-12-01

    In the 21st century, despite increased globalization through international travel for business, medical volunteerism, pleasure, and immigration/refugees into the United States, there is little published in the dermatology literature regarding the cutaneous manifestations of helminth infections. Approximately 17% of travelers seek medical care because of cutaneous disorders, many related to infectious etiologies. This review will focus on the cutaneous manifestations of helminth infections and is divided into 2 parts: part I focuses on nematode infections, and part II focuses on trematode and cestode infections. This review highlights the clinical manifestations, transmission, diagnosis, and treatment of helminth infections. Nematodes are roundworms that cause diseases with cutaneous manifestations, such as cutaneous larval migrans, onchocerciasis, filariasis, gnathostomiasis, loiasis, dracunculiasis, strongyloidiasis, ascariasis, streptocerciasis, dirofilariasis, and trichinosis. Tremadotes, also known as flukes, cause schistosomiasis, paragonimiasis, and fascioliasis. Cestodes (tapeworms) are flat, hermaphroditic parasites that cause diseases such as sparganosis, cysticercosis, and echinococcus. PMID:26568337

  19. Rheumatic Manifestations in Patients with Chikungunya Infection.

    PubMed

    Arroyo-Ávila, Mariangelí; Vilá, Luis M

    2015-06-01

    Chikungunya virus (CHIKV) infection is a common cause of febrile arthritis. The most common manifestations of acute infection are fever, symmetrical polyarthralgias or polyarthritis, myalgias, and maculopapular rash. Up to 80% of patients may develop musculoskeletal manifestations that persist longer than 3 months, causing impairment in their quality of life. The most common chronic manifestations are persistent or relapsing-remitting polyarthralgias, polyarthritis, and myalgias. Fingers, wrists, knees, ankles, and toes are the most frequently involved, but proximal joints and axial involvement can occur in the chronic stage. Chronic manifestations of CHIKV infection may resemble those of some autoimmune connective tissue diseases. Furthermore, CHIKV infection can cause cryoglobulinemia and may induce rheumatoid arthritis and seronegative spondyloarthropathies in genetically susceptible individuals. The Centers for Disease Control and Prevention recommend acetaminophen and non steroidal anti-inflammatory drugs for the acute rheumatic manifestations of CHIKV infection. However, some studies suggest that low-dose corticosteroids for about 1-2 months (depending on clinical course) are beneficial in relieving acute rheumatic symptoms. Conversely, hydroxychloroquine in combination with corticosteroids or other disease modifying anti-rheumatic drugs (DMARDs) has been successful in treating chronic rheumatic manifestations. Methotrexate and sulfasalazine (alone or in combination) have also been effective for chronic CHIKV arthritis. Patients with CHIKV infection should be closely monitored to identify those with chronic arthritis who would benefit from a rheumatologic evaluation and early treatment with DMARDs. PMID:26061056

  20. Pulmonary manifestations of inflammatory bowel disease

    PubMed Central

    Ji, Xiao-Qing; Wang, Li-Xia; Lu, De-Gan

    2014-01-01

    Extraintestinal manifestations of inflammatory bowel disease (IBD) are a systemic illness that may affect up to half of all patients. Among the extraintestinal manifestations of IBD, those involving the lungs are relatively rare and often overlooked. However, there is a wide array of such manifestations, spanning from airway disease to lung parenchymal disease, thromboembolic disease, pleural disease, enteric-pulmonary fistulas, pulmonary function test abnormalities, and adverse drug reactions. The spectrum of IBD manifestations in the chest is broad, and the manifestations may mimic other diseases. Although infrequent, physicians dealing with IBD must be aware of these conditions, which are sometimes life-threatening, to avoid further health impairment of the patients and to alleviate their symptoms by prompt recognition and treatment. Knowledge of these manifestations in conjunction with pertinent clinical data is essential for establishing the correct diagnosis and treatment. The treatment of IBD-related respiratory disorders depends on the specific pattern of involvement, and in most patients, steroids are required in the initial management. Corticosteroids, both systemic and aerosolized, are the mainstay therapeutic approach, while antibiotics must also be administered in the case of infectious and suppurative processes, whose sequelae sometimes require surgical intervention. PMID:25309080

  1. Musculoskeletal manifestations in hyperlipidaemia: a controlled study.

    PubMed Central

    Klemp, P; Halland, A M; Majoos, F L; Steyn, K

    1993-01-01

    Eighty eight patients with hyperlipidaemia (81 white patients from South Africa and seven patients of mixed race from the West Cape area) were studied. Forty eight had adult familial hypercholesterolaemia, 16 had juvenile familial hypercholesterolaemia, and 24 had mixed hyperlipidaemia (increased cholesterol and triglycerides). They were interviewed and examined and their musculoskeletal manifestations compared with 88 controls with normal lipid profiles, and matched for age, sex, and race for each group of patients. The following manifestations were significantly increased in the patients: (a) tendon xanthomas particularly of the tendo Achillis in patients with adult familial hypercholesterolaemia and mixed hyperlipidaemia; (b) tendo Achillis tendinitis in patients with adult familial hypercholesterolaemia and mixed hyperlipidaemia; and (c) oligoarthritis in patients with mixed hyperlipidaemia but not in those with adult familial hypercholesterolaemia. Migratory polyarthritis and transient tendo Achillis pain were rare. Thirty eight per cent of patients with juvenile familial hypercholesterolaemia had musculoskeletal system manifestations none of which was significantly increased compared with controls. There was a significant association between tendon xanthomas and tendo Achillis tendinitis. There was a significant difference in pretreatment cholesterol levels in the patients with adult familial hypercholesterolaemia and musculoskeletal system manifestations compared with those without and in all three groups combined. The study confirms an association between hyperlipidaemia and tendon xanthomas, tendo Achillis tendinitis, and to a lesser extent oligoarthritis but not migratory polyarthritis or transient tendo Achillis pain as reported in other studies. It also shows that musculoskeletal system manifestations antedated the diagnosis of hyperlipidaemia in 24/39 (62%) patients and that the manifestations improved or resolved completely in 19/30 (63%) patients after receiving lipid lowering treatment. It is therefore important to recognise the association between musculoskeletal system manifestations and hyperlipidaemia for diagnostic and therapeutic reasons. Images PMID:8427513

  2. Extra-articular Manifestations in Rheumatoid Arthritis

    PubMed Central

    Cojocaru, Manole; Cojocaru, Inimioara Mihaela; Silosi, Isabela; Vrabie, Camelia Doina; Tanasescu, R

    2010-01-01

    ABSTRACT Rheumatoid arthritis (RA) is a systemic autoimmune disease whose main characteristic is persistent joint inflammation that results in joint damage and loss of function. Although RA is more common in females, extra-articular manifestations of the disease are more common in males. The extra-articular manifestations of RA can occur at any age after onset. It is characterised by destructive polyarthritis and extra-articular organ involvement, including the skin, eye, heart, lung, renal, nervous and gastrointestinal systems. The frequence of extra-articular manifestations in RA differs from one country to another. Extra-articular organ involvement in RA is more frequently seen in patients with severe, active disease and is associated with increased mortality. Incidence and frequence figures for extra-articular RA vary according to study design. Extra-articular involvement is more likely in those who have RF and/or are HLA-DR4 positive. Occasionally, there are also systemic manifestations such as vasculitis, visceral nodules, Sjgren's syndrome, or pulmonary fibrosis present. Nodules are the most common extra-articular feature, and are present in up to 30%; many of the other classic features occur in 1% or less in normal clinic settings. Sjgren's syndrome, anaemia of chronic disease and pulmonary manifestations are relatively common in 6-10%, are frequently present in early disease and are all related to worse outcomes measures of rheumatoid disease in particular functional impairment and mortality. The occurrence of these systemic manifestations is a major predictor of mortality in patients with RA. This paper focuses on extra-articular manifestations, defined as diseases and symptoms not directly related to the locomotor system. PMID:21977172

  3. Skin manifestations of primary immune deficiency.

    PubMed

    Lehman, Heather

    2014-04-01

    Cutaneous manifestations are common in primary immune deficiency diseases, affecting between 40 % and 70 % of patients with diagnosed primary immune deficiency. Skin infections characterize many primary immune deficiencies, but there are also frequent noninfectious cutaneous manifestations seen in many of these disorders, including eczematous lesions, erythroderma, cutaneous granulomas, dysplasia of skin, hair, and nails, autoimmune conditions, and frank vasculitis. For the patient with suspected primary immunodeficiency, much can be inferred by evaluating the presenting cutaneous findings, including various infectious susceptibilities, presence of atopy, and evidence of impaired or overactive inflammatory response. The skin manifestations of primary immune deficiency diseases are often early or heralding findings of the underlying immunologic disease. Therefore, awareness of associations between skin findings and immune deficiency may aide in the early detection and treatment of serious or life-threatening immunologic defects. This review summarizes the common skin manifestations of primary immune deficiency diseases and provides the reader with a differential diagnosis of primary immune defects to consider for the most common skin manifestations. PMID:23760761

  4. Pulmonary manifestations of renal cell carcinoma.

    PubMed

    Agrawal, Abhinav; Sahni, Sonu; Iftikhar, Asma; Talwar, Arunabh

    2015-12-01

    Renal cell carcinoma (RCC) accounts for majority of all primary renal neoplasms. Classic manifestations of RCC include the triad of flank pain, hematuria and a palpable renal mass. Patients with RCC can develop various extra renal manifestations including involvements of the lungs, inferior vena cava, liver and the bones. The pulmonary manifestations of renal cell carcinoma include metastatic disease including endobronchial, pleural, parenchymal or lymph node metastasis, pleural effusion or hemothorax. Pulmonary embolism and tumor embolism is another common manifestation of renal cell carcinoma. RCC is a highly vascular tumor and can cause pulmonary arterio-venous fistulas leading to high output failure. Rarely, RCC can also present with paraneoplastic presentations including cough or bilateral diaphragm paralysis. Drugs used to treat RCC have been associated with drug related pneumonitis and form an important differential diagnosis in patients with RCC on therapy presenting with shortness of breath. In this review we discuss the various pulmonary manifestations of RCC. A high index of suspicion with these presentations can lead to an early diagnosis and assist in instituting an appropriate intervention. PMID:26525375

  5. Mitochondrial Disorders with Significant Ophthalmic Manifestations

    PubMed Central

    Al-Enezi, Mona; Al-Saleh, Hanan; Nasser, Murad

    2008-01-01

    Mitochondrial diseases are a clinically hetyerogenous group of disorders. They can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). Some affect a single organ, but many involve multiple organ systems and often present with prominent neurologic and myopathic features. The eye is frequently affected, along with muscles and brain, but multisystem disease is common. Ophthalmic manifestations include cataract, retinopathy, optic atrophy, cortical visual loss, ptosis and ophthalmoplegia. Kearns-Sayre Syndrome (KSS), Mitochondrial Encephalopathy, Lactic Acidosis Stroke (MELAS), Myoclonic Epilepsy and Ragged Red Fiber myopathy (MERRF) and Lebers Hereditary Optic Neuropathy (LHON) are well known clinical entities that are secondary to mtDNA abnormalities, which has ophthalmic manifestations. Mitochondrial Dysfunction should be considered in the differential diagnosis of progressive multisystem disorder and specifically if there is associated neuro-ophthalmic manifestations, which may be the presenting symptom of these disorders. PMID:21346843

  6. Ocular manifestations in systemic lupus erythematosus.

    PubMed

    Silpa-Archa, Sukhum; Lee, Joan J; Foster, C Stephen

    2016-01-01

    Systemic lupus erythematosus (SLE) can involve many parts of the eye, including the eyelid, ocular adnexa, sclera, cornea, uvea, retina and optic nerve. Ocular manifestations of SLE are common and may lead to permanent blindness from the underlying disease or therapeutic side effects. Keratoconjunctivitis sicca is the most common manifestation. However, vision loss may result from involvement of the retina, choroid and optic nerve. Ocular symptoms are correlated to systemic disease activity and can present as an initial manifestation of SLE. The established treatment includes prompt systemic corticosteroids, steroid-sparing immunosuppressive drugs and biological agents. Local ocular therapies are options with promising efficacy. The early recognition of disease and treatment provides reduction of visual morbidity and mortality. PMID:25904124

  7. [Extrapulmonary manifestations of community acquired pneumonia].

    PubMed

    Bascir, G; Aguilar, A Martiz; Abbet, P

    2014-10-01

    The key diagnostic features of community acquired pneumonia are sometimes mixed with extrapulmonary clinical manifestations which are important to recognize. Indeed, when present, these clinical clues can help tailor the diagnostic and therapeutic approach in a more specific way. For example, the presence of diarrhea, acute confusion and hyponatremia are suggestive of Legionella pneumophila, and therefore this pathogen needs to be included in the initial antibiotic regimen. Extrapulmonary manifestations are sometimes difficult to distinguish from septic complications of the pneumonia, but can sometimes warrant a specific treatment. The goal of this review is to remind the reader of the broad spectrum of these manifestations and their association with specific pathogens, most often the "atypical" ones. PMID:25417358

  8. Cutaneous Manifestations of Systemic Lupus Erythematosus

    PubMed Central

    Uva, Lus; Miguel, Diana; Pinheiro, Catarina; Freitas, Joo Pedro; Marques Gomes, Manuel; Filipe, Paulo

    2012-01-01

    Systemic lupus erythematosus (SLE) is a multiorgan autoimmune disease of unknown etiology with many clinical manifestations. The skin is one of the target organs most variably affected by the disease. The American College of Rheumatology (ACR) established 11 criteria as a classificatory instrument to operationalise the definition of SLE in clinical trials. They were not intended to be used to diagnose individuals and do not do well in that capacity. Cutaneous lesions account for four of these 11 revised criteria of SLE. Skin lesions in patients with lupus may be specific or nonspecific. This paper covers the SLE-specific cutaneous changes: malar rash, discoid rash, photosensitivity, and oral mucosal lesions as well as SLE nonspecific skin manifestations, their pathophysiology, and management. A deeper thorough understanding of the cutaneous manifestations of SLE is essential for diagnosis, prognosis, and efficient management. Thus, dermatologists should cooperate with other specialties to provide optimal care of SLE patient. PMID:22888407

  9. Oral manifestations of hematologic and nutritional diseases.

    PubMed

    Schlosser, Bethanee J; Pirigyi, Megan; Mirowski, Ginat W

    2011-02-01

    Oral manifestations of hematologic and nutritional deficiencies can affect the mucous membranes, teeth, periodontal tissues, salivary glands, and perioral skin. This article reviews common oral manifestations of hematologic conditions starting with disorders of the white blood cells including cyclic hematopoiesis (cyclic neutropenia), leukemias, lymphomas, plasma cell dyscrasias, and mast cell disorders; this is followed by a discussion of the impact of red blood cell disorders including anemias and less common red blood cell dyscrasias (sickle cell disease, hemochromatosis, and congenital erythropoietic porphyria) as well as thrombocytopenia. Several nutritional deficiencies exhibit oral manifestations. The authors specifically discuss the impact of water-soluble vitamins (B2, B3, B6, B9, B12, and C), fat-soluble vitamins (A, D, and K) and the eating disorders anorexia nervosa and bulimia nervosa on the oral mucosa. PMID:21093629

  10. Vertigo as a Predominant Manifestation of Neurosarcoidosis

    PubMed Central

    Imran, Tasnim F.; Eyzner, Igor; Mirani, Neena; Hossain, Tanzib; Fede, Robert; Capitle, Eugenio

    2015-01-01

    Sarcoidosis is a granulomatous disease of unknown etiology that affects multiple organ systems. Neurological manifestations of sarcoidosis are less common and can include cranial neuropathies and intracranial lesions. We report the case of a 21-year-old man who presented with vertigo and uveitis. Extensive workup including brain imaging revealed enhancing focal lesions. A lacrimal gland biopsy confirmed the diagnosis of sarcoidosis. The patient was initially treated with prednisone, which did not adequately control his symptoms, and then was switched to methotrexate with moderate symptomatic improvement. Our patient had an atypical presentation with vertigo as the predominant manifestation of sarcoidosis. Patients with neurosarcoidosis typically present with systemic involvement of sarcoidosis followed by neurologic involvement. Vertigo is rarely reported as an initial manifestation. This case highlights the importance of consideration of neurosarcoidosis as an entity even in patients that may not have a typical presentation or systemic involvement of disease. PMID:25922606

  11. Imaging Cardiovascular Manifestations of Genetic Syndromes.

    PubMed

    Shah, Soham; Ashwath, Ravi; Rajiah, Prabhakar

    2016-01-01

    Congenital structural cardiovascular defects are commonly associated and found concurrently with many different types of genetic diseases and syndromes. Understanding these cardiovascular manifestations is essential for diagnosing these genetic syndromes without delay and provides prompt attention and repair of life-threatening defects without complications. Computed tomography and magnetic resonance imaging are increasingly used in the evaluation of cardiovascular abnormalities, and it is imperative for radiologists to be cognizant of the syndromes associated with these abnormalities. In this article, we review the cardiovascular manifestations of the common genetic syndromes and illustrate the role of computed tomography and magnetic resonance imaging in the evaluation of these abnormalities. PMID:26163737

  12. Caffeine-induced psychiatric manifestations: a review.

    PubMed

    Wang, Hee Ryung; Woo, Young Sup; Bahk, Won-Myong

    2015-07-01

    The association between caffeine consumption and various psychiatric manifestations has long been observed. We present two cases that show the ability of caffeine to induce psychotic and manic symptoms, and we also review the extant literature on caffeine-induced psychiatric manifestations. On the basis of our own and others' findings, we suggest that caffeine may be related to not only de-novo psychotic or mood symptoms but also to aggravation of pre-existing psychotic or mood disorders. We therefore suggest that caffeine consumption among patients with mood or psychotic symptoms should be assessed carefully in clinical practice as part of routine psychiatric evaluations. PMID:25856116

  13. Bodily manifestations in the psychoanalytic process.

    PubMed

    Vartzopoulos, Ioannis; Beratis, Stavroula

    2012-07-01

    The broadening scope of psychoanalysis has brought to the fore patients whose unconscious conflicts tend to be literally played out on the stage of the body. In these cases, the body seems to be predominantly used in a concrete, not symbolic, way in order to express underlying conflicts. In a similar vein, transference and countertransference can be manifested via the body. The authors briefly discuss some of the literature on body-mind issues, and then present an extended case report to illustrate bodily manifestations in the psychoanalytic process. PMID:23038903

  14. 40 CFR 264.72 - Manifest discrepancies.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... limits for empty containers set forth in 40 CFR 261.7(b). (b) Significant differences in quantity are... exceeds the quantity limits for empty containers set forth in 40 CFR 261.7(b), the facility must consult... set forth in 40 CFR 261.7(b) after it has signed, dated, and returned a copy of the manifest to...

  15. 40 CFR 264.72 - Manifest discrepancies.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... limits for empty containers set forth in 40 CFR 261.7(b). (b) Significant differences in quantity are... exceeds the quantity limits for empty containers set forth in 40 CFR 261.7(b), the facility must consult... set forth in 40 CFR 261.7(b) after it has signed, dated, and returned a copy of the manifest to...

  16. 21 CFR 11.50 - Signature manifestations.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... RECORDS; ELECTRONIC SIGNATURES Electronic Records 11.50 Signature manifestations. (a) Signed electronic records shall contain information associated with the signing that clearly indicates all of the following... the same controls as for electronic records and shall be included as part of any human readable...

  17. 21 CFR 11.50 - Signature manifestations.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... RECORDS; ELECTRONIC SIGNATURES Electronic Records 11.50 Signature manifestations. (a) Signed electronic records shall contain information associated with the signing that clearly indicates all of the following... the same controls as for electronic records and shall be included as part of any human readable...

  18. 21 CFR 11.50 - Signature manifestations.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... RECORDS; ELECTRONIC SIGNATURES Electronic Records 11.50 Signature manifestations. (a) Signed electronic records shall contain information associated with the signing that clearly indicates all of the following... the same controls as for electronic records and shall be included as part of any human readable...

  19. 19 CFR 122.75 - Complete manifest.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 1 2010-04-01 2010-04-01 false Complete manifest. 122.75 Section 122.75 Customs Duties U.S. CUSTOMS AND BORDER PROTECTION, DEPARTMENT OF HOMELAND SECURITY; DEPARTMENT OF THE TREASURY AIR COMMERCE REGULATIONS Documents Required for Clearance and Permission To Depart;...

  20. Candidal endophthalmitis: a manifestation of systemic candidiasis.

    PubMed Central

    Patel, B. C.; Kaye, S. B.; Morgan, L. H.

    1987-01-01

    Two patients on total parenteral nutrition who developed endophthalmitis secondary to Candida albicans are described. Candidal endophthalmitis as a manifestation of systemic candidiasis is discussed and its early diagnosis by bedside fundal examination in patients at risk is stressed. Images Figure 1 Figure 2 PMID:3116523

  1. Real-Life Contextual Manifestations of Wisdom

    ERIC Educational Resources Information Center

    Yang, Shih-Ying

    2008-01-01

    Wisdom pertains to managing human affairs, and it arises in highly contextualized situations. The present study aims to investigate manifestations of wisdom in real-life contexts through semi-structured interviews with 66 individuals nominated as wise persons. All nominees were ethnic Chinese from Taiwan, an East Asian country which has…

  2. Extraoesophageal manifestations of gastro-oesophageal reflux.

    PubMed

    Poelmans, J; Tack, J

    2005-10-01

    A variety of pulmonary and ear, nose, and throat (ENT) symptoms and disorders are considered to be extraoesophageal manifestations of gastro-oesophageal reflux disease (GORD). These extraoesophageal manifestations include asthma, chronic cough, laryngeal disorders, and various ENT symptoms. Recent studies have established that GORD underlies or contributes to chronic sinusitis, chronic otitis media, paroxysmal laryngospasm, excessive throat phlegm, and postnasal drip. Traditionally, management of extraoesophageal GORD manifestations relies on prolonged empiric therapy with high doses of proton pump inhibitors (PPI), followed by pH monitoring under PPI in refractory cases. Recent studies found no benefit of empiric long term high dose PPI therapy. The diagnostic yield of endoscopy in extraoesophageal GORD manifestations seems higher than previously appreciated while pH monitoring under PPI therapy has a low yield. Based on these new findings, a new management algorithm can be proposed that uses short term empiric PPI therapy and GORD investigations off PPI. Well designed controlled studies evaluating the proposed management algorithms and treatment approaches in this area are urgently needed. PMID:16162955

  3. Gestural Manifestation of Knowledge in Conceptual Frames

    ERIC Educational Resources Information Center

    Chui, Kawai

    2012-01-01

    Frames are cognitive structures of knowledge grounded in people's social interaction in recurrent sociocultural activities or individual incidences. Discussion concerning the knowledge in frames largely focuses on its linguistic manifestation with regard to roles and role relations in scenes. Little attention has been paid to the scriptal

  4. Real-Life Contextual Manifestations of Wisdom

    ERIC Educational Resources Information Center

    Yang, Shih-Ying

    2008-01-01

    Wisdom pertains to managing human affairs, and it arises in highly contextualized situations. The present study aims to investigate manifestations of wisdom in real-life contexts through semi-structured interviews with 66 individuals nominated as wise persons. All nominees were ethnic Chinese from Taiwan, an East Asian country which has

  5. 7 CFR 905.70 - Manifest report.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 7 Agriculture 8 2011-01-01 2011-01-01 false Manifest report. 905.70 Section 905.70 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE ORANGES, GRAPEFRUIT, TANGERINES,...

  6. 7 CFR 905.70 - Manifest report.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 7 Agriculture 8 2012-01-01 2012-01-01 false Manifest report. 905.70 Section 905.70 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE ORANGES, GRAPEFRUIT, TANGERINES,...

  7. 7 CFR 905.70 - Manifest report.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 7 Agriculture 8 2013-01-01 2013-01-01 false Manifest report. 905.70 Section 905.70 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (MARKETING AGREEMENTS AND ORDERS; FRUITS, VEGETABLES, NUTS), DEPARTMENT OF AGRICULTURE ORANGES, GRAPEFRUIT, TANGERINES,...

  8. 7 CFR 905.70 - Manifest report.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 7 Agriculture 8 2014-01-01 2014-01-01 false Manifest report. 905.70 Section 905.70 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (MARKETING AGREEMENTS AND ORDERS; FRUITS, VEGETABLES, NUTS), DEPARTMENT OF AGRICULTURE ORANGES, GRAPEFRUIT, TANGERINES,...

  9. 7 CFR 905.70 - Manifest report.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 8 2010-01-01 2010-01-01 false Manifest report. 905.70 Section 905.70 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE ORANGES, GRAPEFRUIT, TANGERINES,...

  10. Manifestation Determination as a Golden Fleece.

    ERIC Educational Resources Information Center

    Katsiyannis, Antonis; Maag, John W.

    2001-01-01

    Manifestation determination is a mandated provision for deciding whether a student's misbehavior is related to his disability and, consequently, whether cessation of services is allowed. This article critiques this provision by reviewing relevant case law and legislation, examining the mandate's social context, and questioning the validity of…

  11. 40 CFR 264.72 - Manifest discrepancies.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... limits for empty containers set forth in 40 CFR 261.7(b). (b) Significant differences in quantity are... exceeds the quantity limits for empty containers set forth in 40 CFR 261.7(b), the facility must consult...) Write the generator's U.S. EPA ID number in Item 1 of the new manifest. Write the generator's name...

  12. 40 CFR 264.72 - Manifest discrepancies.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... limits for empty containers set forth in 40 CFR 261.7(b). (b) Significant differences in quantity are... exceeds the quantity limits for empty containers set forth in 40 CFR 261.7(b), the facility must consult...) Write the generator's U.S. EPA ID number in Item 1 of the new manifest. Write the generator's name...

  13. Dyslexia in Regular Orthographies: Manifestation and Causation

    ERIC Educational Resources Information Center

    Wimmer, Heinz; Schurz, Matthias

    2010-01-01

    This article summarizes our research on the manifestation of dyslexia in German and on cognitive deficits, which may account for the severe reading speed deficit and the poor orthographic spelling performance that characterize dyslexia in regular orthographies. An only limited causal role of phonological deficits (phonological awareness,

  14. Pulmonary manifestations of Crohns disease

    PubMed Central

    Lu, De-Gan; Ji, Xiao-Qing; Liu, Xun; Li, Hong-Jia; Zhang, Cai-Qing

    2014-01-01

    Crohns disease (CD) is a systemic illness with a constellation of extraintestinal manifestations affecting various organs. Of these extraintestinal manifestations of CD, those involving the lung are relatively rare. However, there is a wide array of lung manifestations, ranging from subclinical alterations, airway diseases and lung parenchymal diseases to pleural diseases and drug-related diseases. The most frequent manifestation is bronchial inflammation and suppuration with or without bronchiectasis. Bronchoalveolar lavage findings show an increased percentage of neutrophils. Drug-related pulmonary abnormalities include disorders which are directly induced by sulfasalazine, mesalamine and methotrexate, and opportunistic lung infections due to immunosuppressive treatment. In most patients, the development of pulmonary disease parallels that of intestinal disease activity. Although infrequent, clinicians dealing with CD must be aware of these, sometimes life-threatening, conditions to avoid further impairment of health status and to alleviate patient symptoms by prompt recognition and treatment. The treatment of CD-related respiratory disorders depends on the specific pattern of involvement, and in most patients, steroids are required in the initial management. PMID:24415866

  15. Behavioral Manifestations of Child Sexual Abuse: Response.

    ERIC Educational Resources Information Center

    Reece, Robert M.

    1998-01-01

    This response to a previous article on behavioral manifestations of child sexual abuse (EC 619 258) stresses the importance of empirical research and the avoidance of assumptions that incidents of sexual abuse are the sentinel events in the life of a child, when the child's dysfunctional milieu may provide far more traumatic events. (DB)

  16. 40 CFR 761.210 - Manifest discrepancies.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 30 2010-07-01 2010-07-01 false Manifest discrepancies. 761.210 Section 761.210 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES CONTROL ACT POLYCHLORINATED BIPHENYLS (PCBs) MANUFACTURING, PROCESSING, DISTRIBUTION IN COMMERCE, AND USE PROHIBITIONS PCB Waste Disposal Records...

  17. 40 CFR 262.25 - Electronic manifest signatures.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 40 Protection of Environment 26 2014-07-01 2014-07-01 false Electronic manifest signatures. 262.25... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.25 Electronic manifest signatures. Electronic signature methods for the e-Manifest system shall: (a) Be a legally valid...

  18. 40 CFR 262.54 - Special manifest requirements.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE Exports of Hazardous Waste § 262.54 Special manifest requirements. A primary exporter must comply with the manifest requirements of 40 CFR 262.20... (as defined in 40 CFR 264.72(a)) between the manifest and the shipment. A copy of the manifest...

  19. 40 CFR 262.54 - Special manifest requirements.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE Exports of Hazardous Waste § 262.54 Special manifest requirements. A primary exporter must comply with the manifest requirements of 40 CFR 262.20... (as defined in 40 CFR 264.72(a)) between the manifest and the shipment. A copy of the manifest...

  20. 40 CFR 262.54 - Special manifest requirements.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE Exports of Hazardous Waste § 262.54 Special manifest requirements. A primary exporter must comply with the manifest requirements of 40 CFR 262.20... (as defined in 40 CFR 264.72(a)) between the manifest and the shipment. A copy of the manifest...

  1. 40 CFR 262.54 - Special manifest requirements.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE Exports of Hazardous Waste § 262.54 Special manifest requirements. A primary exporter must comply with the manifest requirements of 40 CFR 262.20... (as defined in 40 CFR 264.72(a)) between the manifest and the shipment. A copy of the manifest...

  2. 40 CFR 262.54 - Special manifest requirements.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE Exports of Hazardous Waste § 262.54 Special manifest requirements. A primary exporter must comply with the manifest requirements of 40 CFR 262.20... (as defined in 40 CFR 264.72(a)) between the manifest and the shipment. A copy of the manifest...

  3. Carbon monoxide poisoning: systemic manifestations and complications.

    PubMed

    Choi, I S

    2001-06-01

    Carbon monoxide (CO) has the toxic effects of tissue hypoxia and produces various systemic and neurological complications. The main clinical manifestations of acute CO poisoning consist of symptoms caused by alterations of the cardiovascular system such as initial tachycardia and hypertension, and central nervous system symptoms such as headache, dizziness, paresis, convulsion and unconsciousness. CO poisoning also produces myocardial ischemia, atrial fibrillation, pneumonia, pulmonary edema, erythrocytosis, leucocytosis, hyperglycemia, muscle necrosis, acute renal failure, skin lesion, and changes in perception of the visual and auditory systems. Of considerable clinical interest, severe neurological manifestations may occur days or weeks after acute CO poisoning. Delayed sequelae of CO poisoning are not rare, usually occur in middle or older, and are clinically characterized by symptom triad of mental deterioration, urinary incontinence, and gait disturbance. Occasionally, movement disorders, particularly parkinsonism, are observed. In addition, peripheral neuropathy following CO poisoning usually occurs in young adults. PMID:11410684

  4. Pulmonary manifestations of sickle cell disease

    PubMed Central

    Siddiqui, A; Ahmed, S

    2003-01-01

    Pulmonary complications account for significant morbidity and mortality in patients with sickle cell disease. Clinical lung involvement manifests in two major forms: the acute chest syndrome and sickle cell chronic lung disease. Acute chest syndrome is characterised by fever, chest pain, and appearance of a new infiltrate on chest radiograph. Sickle cell chronic lung disease, on the other hand, manifests as radiographic interstitial abnormalities, impaired pulmonary function, and, in its most severe form, by the evidence of pulmonary hypertension. Progress has been made in understanding the pathophysiology and management of these complications. In this review the current knowledge of the mechanism, diagnosis, and treatment of pulmonary complications of sickle cell disease are discussed. PMID:12897216

  5. Varied Clinical Manifestations of Amebic Colitis.

    PubMed

    Cooper, Chad J; Fleming, Rhonda; Boman, Darius A; Zuckerman, Marc J

    2015-11-01

    Invasive amebiasis is common worldwide, but infrequently observed in the United States. It is associated with considerable morbidity in patients residing in or traveling to endemic areas. We review the clinical and endoscopic manifestations of amebic colitis to alert physicians to the varied clinical manifestations of this potentially life-threatening disease. Copyright ©Most patients present with watery or bloody diarrhea. Less common presentations of amebic colitis include abdominal pain, overt gastrointestinal bleeding, exacerbation of inflammatory bowel disease, or the incidental association with colon cancer. Amebic liver abscesses are the most frequent complication. Rectosigmoid involvement may be found on colonoscopy; however, most case series have reported that the cecum is the most commonly involved site, followed by the ascending colon. Endoscopic evaluation should be used to assist in the diagnosis, with attention to the observation of colonic inflammation, ulceration, and amebic trophozoites on histopathological examination. PMID:26539949

  6. Clinical Manifestations and Diagnosis of Acromegaly

    PubMed Central

    Lugo, Gloria; Pena, Lara; Cordido, Fernando

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal. PMID:22518126

  7. [Rare ocular manifestation with suspect alport syndrome].

    PubMed

    Krejčířová, I; Varadyová, B; Doležel, Z; Autrata, R; Matúšová, J; Gregorová, E

    2014-06-01

    The authors mention a case report of a 13 year old girl with renal disease, who visited the outpatient Department of Pediatric Ophthalmology, University Hospital Brno with subjective complaints on decreased vision of both eyes. Ophthalmologic examination showed physiological foveolar reflex on fundus and very discrete changes of the retinal pigment epithelium in macula, the fundus periphery was without pathology. OCT images showed bilateral atrophy of central macula and changes at the level of the photoreceptors. The authors describe a rare ocular manifestation of macular atrophy with suspect Alport syndrome, which strengthened the suspicion of this disease. The authors also mention other possible ocular manifestations of Alport syndrome and compare the findings with the up to date international references. Key words: Alport syndrome, X heterozygot Alport syndrome, macular atrophy, lentikonus. PMID:25032798

  8. [Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics].

    PubMed

    Preiss, Yudith; Santos, Jos L; Smalley, Susan V; Maiz, Alberto

    2014-05-01

    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in the liver. Its deficiency causes reduced bile acid synthesis and tissue accumulation of cholestanol. Clinical manifestations are related to the presence of cholestanol deposits and include tendon xanthomas, premature cataracts, chronic diarrhea, progressive neurologic impairment and less frequently coronary heart disease, early onset osteoporosis and abnormalities in the optic disk and retina. An early diagnosis and treatment with quenodeoxycholic acid may prevent further complications, mainly neurological manifestations. This review summarizes cholesterol metabolism related to bile acid synthesis, physiopathology, biochemistry and treatment of cerebrotendinous xanthomatosis. PMID:25427019

  9. The Chronic Gastrointestinal Manifestations of Chagas Disease

    PubMed Central

    Matsuda, Nilce Mitiko; Miller, Steven M.; Evora, Paulo R. Barbosa

    2009-01-01

    Chagas disease is an infectious disease caused by the protozoan Trypanosoma cruzi. The disease mainly affects the nervous system, digestive system and heart. The objective of this review is to revise the literature and summarize the main chronic gastrointestinal manifestations of Chagas disease. The chronic gastrointestinal manifestations of Chagas disease are mainly a result of enteric nervous system impairment caused by T. cruzi infection. The anatomical locations most commonly described to be affected by Chagas disease are salivary glands, esophagus, lower esophageal sphincter, stomach, small intestine, colon, gallbladder and biliary tree. Chagas disease has also been studied in association with Helicobacter pylori infection, interstitial cells of Cajal and the incidence of gastrointestinal cancer. PMID:20037711

  10. Maxillary sinus manifestations of methamphetamine abuse.

    PubMed

    Faucett, Erynne A; Marsh, Katherine M; Farshad, Kayven; Erman, Audrey B; Chiu, Alexander G

    2015-01-01

    Methamphetamines are the second most commonly used illicit drug worldwide and cost the United States health-care system ?$23.4 billion annually. Use of this drug affects multiple organ systems and causes a variety of clinical manifestations. Although there are commonly known sequelae of methamphetamine abuse such as "meth mouth," there is limited evidence regarding maxillary sinus manifestations. The following cases highlight the initial evaluation and management of two methamphetamine abusers with loculated purulent collections within the maxillary sinus as a result of methamphetamine abuse. Our aim was to delineate the otolaryngologic symptoms associated with the patients' methamphetamine abuse. Computed tomography and magnetic resonance imaging studies revealed loculated purulent collections within the maxillary sinus of probable odontogenic origin in both patients. Methamphetamine abuse leading to rampant caries and poor oral hygiene may predispose individuals for craniofacial infections and fluid collections. These cases illustrate the development of maxillary sinusitis and maxilla mucoceles that have been associated with methamphetamine use. PMID:25675268

  11. Maxillary sinus manifestations of methamphetamine abuse

    PubMed Central

    Faucett, Erynne A.; Marsh, Katherine M.; Farshad, Kayven; Erman, Audrey B.

    2015-01-01

    Methamphetamines are the second most commonly used illicit drug worldwide and cost the United States health-care system ?$23.4 billion annually. Use of this drug affects multiple organ systems and causes a variety of clinical manifestations. Although there are commonly known sequelae of methamphetamine abuse such as meth mouth, there is limited evidence regarding maxillary sinus manifestations. The following cases highlight the initial evaluation and management of two methamphetamine abusers with loculated purulent collections within the maxillary sinus as a result of methamphetamine abuse. Our aim was to delineate the otolaryngologic symptoms associated with the patients' methamphetamine abuse. Computed tomography and magnetic resonance imaging studies revealed loculated purulent collections within the maxillary sinus of probable odontogenic origin in both patients. Methamphetamine abuse leading to rampant caries and poor oral hygiene may predispose individuals for craniofacial infections and fluid collections. These cases illustrate the development of maxillary sinusitis and maxilla mucoceles that have been associated with methamphetamine use. PMID:25675268

  12. Orthopaedic manifestations of sickle-cell disease.

    PubMed Central

    Huo, M. H.; Friedlaender, G. E.; Marsh, J. S.

    1990-01-01

    Sickle-cell disease is a well-recognized clinical entity. The pathophysiology of this hemoglobinopathy has been described in detail by numerous investigators since the first case report appeared in 1910. Orthopaedic manifestations of sickle-cell disease account for much of the morbidity associated with this disorder, including pain, osteonecrosis, arthritis, and sepsis. Effective management of these bone and joint sequelae reflect accurate diagnosis, understanding of this disorder's pathophysiology, and knowledge of available medical and surgical treatment alternatives. In this review, the authors summarize the major orthopaedic manifestations of sickle-cell disease with special emphasis placed upon osteonecrosis and osteomyelitis, since these conditions are the most disabling and serious complications in patients with sickle-cell disease. Images FIG. 1 FIG. 2 FIG. 3 FIG. 4 FIG. 5 PMID:2238715

  13. 40 CFR 264.72 - Manifest discrepancies.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... limits for “empty” containers set forth in 40 CFR 261.7(b). (b) Significant differences in quantity are... exceeds the quantity limits for “empty” containers set forth in 40 CFR 261.7(b), the facility must consult... set forth in 40 CFR 261.7(b) after it has signed, dated, and returned a copy of the manifest to...

  14. Dermatologic Extrahepatic Manifestations of Hepatitis C.

    PubMed

    Dedania, Bhavtosh; Wu, George Y

    2015-06-28

    Hepatitis C virus (HCV) affects millions of people worldwide, and an estimated 3.2 million people in the United States. HCV is a hepatotropic and lymphotropic virus that causes not only liver disease, but also a significant number of extrahepatic manifestations (EHMs). Up to 74% of patients affected by HCV will have HCV-related EHMs of some severity in their lifetime. The EHMs vary from simple cutaneous palpable purpura to complex lymphoproliferative disorders, including lymphomas and immune-complex deposit diseases causing local and/or systemic complications. Mixed cryoglobulinemia (MC) is manifested by multiple systemic organ involvement, mainly skin, kidney, peripheral nerves, and salivary glands, and less frequently causes widespread vasculitis and malignant lymphoma. MC affects up to 3% of HCV-infected patients with cryoglobulinemia of clinical significance, i.e. >6%. Severe disease requires immunosuppressive or plasma exchange therapy. HCV prevalence in the United States in patients with porphyria cutanea tarda (PCT) was reported to be 66%, much higher than that in general population. Therefore, all patients with PCT should be screened for HCV. The skin rash of PCT varies from large blisters to small vesicles and/or milia on the hands. Skin manifestations due to PCT usually respond to anti-HCV treatment together with reducing skin sun exposure, avoiding triggers, having routine phlebotomy (especially for people with chronic iron overload states), and using chloroquine. Lichen planus (LP), which typically affects both the skin and oral mucosa is a chronic inflammatory disease of squamous cell origin affecting about 1% of the worldwide population. The prevalence of HCV in patients with LP varies based on geographic location. We review here the basic pathophysiology, clinical features, and management of dermatologic manifestations of HCV. PMID:26357639

  15. Dermatologic Extrahepatic Manifestations of Hepatitis C

    PubMed Central

    Dedania, Bhavtosh; Wu, George Y.

    2015-01-01

    Hepatitis C virus (HCV) affects millions of people worldwide, and an estimated 3.2 million people in the United States. HCV is a hepatotropic and lymphotropic virus that causes not only liver disease, but also a significant number of extrahepatic manifestations (EHMs). Up to 74% of patients affected by HCV will have HCV-related EHMs of some severity in their lifetime. The EHMs vary from simple cutaneous palpable purpura to complex lymphoproliferative disorders, including lymphomas and immune-complex deposit diseases causing local and/or systemic complications. Mixed cryoglobulinemia (MC) is manifested by multiple systemic organ involvement, mainly skin, kidney, peripheral nerves, and salivary glands, and less frequently causes widespread vasculitis and malignant lymphoma. MC affects up to 3% of HCV-infected patients with cryoglobulinemia of clinical significance, i.e. >6%. Severe disease requires immunosuppressive or plasma exchange therapy. HCV prevalence in the United States in patients with porphyria cutanea tarda (PCT) was reported to be 66%, much higher than that in general population. Therefore, all patients with PCT should be screened for HCV. The skin rash of PCT varies from large blisters to small vesicles and/or milia on the hands. Skin manifestations due to PCT usually respond to anti‐HCV treatment together with reducing skin sun exposure, avoiding triggers, having routine phlebotomy (especially for people with chronic iron overload states), and using chloroquine. Lichen planus (LP), which typically affects both the skin and oral mucosa is a chronic inflammatory disease of squamous cell origin affecting about 1% of the worldwide population. The prevalence of HCV in patients with LP varies based on geographic location. We review here the basic pathophysiology, clinical features, and management of dermatologic manifestations of HCV. PMID:26357639

  16. Peripheral Nervous System Manifestations of Infectious Diseases

    PubMed Central

    Brizzi, Kate T.

    2014-01-01

    Infectious causes of peripheral nervous system (PNS) disease are underrecognized but potentially treatable. Heightened awareness educed by advanced understanding of the presentations and management of these infections can aid diagnosis and facilitate treatment. In this review, we discuss the clinical manifestations, diagnosis, and treatment of common bacterial, viral, and parasitic infections that affect the PNS. We additionally detail PNS side effects of some frequently used antimicrobial agents. PMID:25360209

  17. Lyme disease. Recognizing its many manifestations.

    PubMed

    Williams, D N; Schned, E S

    1990-05-01

    Lyme borreliosis is a relatively new disease, so much remains to be learned about it. In this article, typical manifestations at each stage are reviewed. However, as the authors emphasize, diagnosis is still a challenge because a given patient may have from a few to all of the features discussed, stages often overlap, and characteristics come and go and may mimic other illnesses. PMID:2186395

  18. Genitourinary manifestations of sickle cell disease.

    PubMed

    Gebreselassie, Surafel; Simmons, Matthew N; Montague, Drogo K

    2015-10-01

    Sickle cell disease is a common genetic disorder characterized by sickling of red blood cells under conditions of reduced oxygen tension. In turn, sickling leads to intravascular hemolysis and vaso-occlusive events with subsequent tissue ischemia-reperfusion injury affecting multiple organs, including the genitourinary system. Our review of the genitourinary manifestations of sickle cell disease focuses on sickle cell nephropathy, priapism, and other genitourinary complications such as papillary necrosis and renal medullary carcinoma. PMID:26469825

  19. Hepatitis C Virus and Its Renal Manifestations

    PubMed Central

    Latt, Nyan; Alachkar, Nada

    2012-01-01

    Hepatitis C virus (HCV) causes chronic systemic infection, primarily affecting the liver. Although HCV mainly causes hepatitis, a significant portion of chronic HCV patients manifests with at least 1 extrahepatic involvement during the course of their illness. Chronic HCV infection can cause various types of renal diseases. The most common renal manifestations of HCV infection are essential mixed cryoglobulinemia leading to membranoproliferative glomerulonephritis (MPGN), MPGN without cryoglobulinemia, and membranous glomerulonephritis. On the other hand, patients with end-stage kidney disease are at an increased risk of acquiring HCV due to their frequent exposure to potentially contaminated devices in dialysis units and their long-term use of vascular access. Among dialysis patients or patients undergoing renal transplantation, the presence of HCV is associated with higher rates of mortality. The optimal antiviral therapy in patients with severe renal insufficiency is not yet well established and, in most cases, is associated with serious adverse effects. Randomized controlled trials looking at treatment options are lacking. This article reviews the pathophysiology of renal manifestations of chronic HCV infection, discusses recent insights into diagnostic and treatment options for HCV-induced glomerulopathies and HCV-infected dialysis patients, and describes the work-up of HCV-positive renal transplant candidates. PMID:23293553

  20. Cutaneous Manifestations of Common Liver Diseases

    PubMed Central

    Dogra, Sunil; Jindal, Rashmi

    2012-01-01

    Skin functions as a window to our overall health and a number of systemic diseases result in various cutaneous changes. Knowledge of these manifestations helps in suspecting an underlying systemic illness. Cutaneous abnormalities are quite common in patients with liver diseases and this article aims to focus on these dermatoses. Cutaneous manifestations seen in patients with liver disease though common are nonspecific. They can also be seen in patients without liver diseases and generally do not indicate about a specific underlying hepatic disorder. The presence of a constellation of signs and symptoms is more useful in pointing toward an underlying hepatobiliary condition. The commonest symptom in patients with liver disease is pruritus which is often protracted and disabling. Other common features include spider angiomas, palmar erythema, paper money skin, xanthelasmas, pigmentary changes, and nutritional deficiencies. In this article, first the common cutaneous manifestations that may be associated with liver disorders are discussed and then common liver diseases with their specific cutaneous findings are discussed. Cutaneous abnormalities may be the first clue to the underlying liver disease. Identifying them is crucial for early diagnosis and better management. PMID:25755383

  1. [Chronic polyarthritis as isolated manifestation of toxocariasis.

    PubMed

    Viola, Gabriela R; Giacomin, Maria Fernanda A; Frana, Camila M P; Sallum, Adriana M E; Jacob, Cristina M A; Silva, Clovis A

    2014-10-16

    Human toxocariasis is a parasitic zoonosis mainly caused by Toxocara canis or T. cati and is acquired by ingestion of the parasite's embryonated eggs. Arthralgia and/or arthritis were reported in up to 17% of cases, generally with acute duration (less than 6 weeks). However, to our knowledge, chronic polyarthritis, as the isolated presentation of Toxocara infection, was not reported. One of 5,809 patients that was followed up at our service (0.017%) had chronic polyarthritis as the single manifestation of toxocariasis and was described herein. A 3-year-old girl was referred to our service with severe painful chronic polyarthritis for a period longer than 10 weeks and morning stiffness of 30minutes. Dog contact exposure history in the recreational areas of neighborhood was reported. Her exams showed high levels of eosinophils in peripheral blood (29%), bone marrow aspirate revealed marked eosinophilia (32%) and Toxocara enzyme-linked immunosorbent assay (Elisa) was positive (1:1,280). She was treated with paracetamol (40 mg/kg/day) and thiabendazole (25 mg/kg/day) for 10 days, and all manifestations reduced. After eight months of follow-up, she was on clinical and laboratorial remission. In conclusion, we described a case of chronic polyarthritis, as isolated manifestation of toxocariasis, mimicking juvenile idiopathic arthritis and leukemia. Importantly, this zoonosis should be considered in patients with arthritis and eosinophilia. PMID:25435169

  2. Cerebral manifestations in the antiphospholipid (Hughes) syndrome.

    PubMed

    Sanna, Giovanni; D'Cruz, David; Cuadrado, Maria Jose

    2006-08-01

    The importance of cerebral disease in patients with the Hughes syndrome is now becoming more widely recognized. The range of neuropsychiatric manifestations of APS is comprehensive, and includes focal symptoms attributable to lesions in a specific area of the brain as well as diffuse or global dysfunction. Patients with APS frequently present with strokes and TIA, but a wide spectrum of other neurologic features-also including non thrombotic neurologic syndromes-has been described in association with the presence of aPL. The recognition of APS has had a profound impact on the understanding and management of the treatment of CNS manifestations associated with connective tissue diseases, in particular, SLE. Many patients with focal neurologic manifestations and aPL, who a few years ago would have received high-dose corticosteroids or immunosuppression, are often successfully treated with anticoagulation. In our opinion, testing for aPL may have a major diagnostic and therapeutic impact not only in patients with autoimmune diseases and neuropsychiatric manifestations, but also in young individuals who develop cerebral ischemia, in those with atypical multiple sclerosis, transverse myelitis, and atypical seizures. We would also recommend testing for aPL for young individuals found with multiple hyperintensity lesions on brain MRI in the absence of other possible causes,especially when under the age of 40 years. It is our practice to anticoagulate patients with aPL suffering from cerebral ischemia with a target INR of 3.0 to prevent recurrences. Low-dose aspirin alone (with occasional exceptions)does not seem helpful to prevent recurrent thrombosis in these patients. Our recommendation, once the patient has had a proven thrombosis associated with aPL, is long-term (possibly life-long) warfarin therapy. Oral anti coagulation carries a risk of hemorrhage, but in our experience the risk of serious bleeding in patients with APS and previous thrombosis treated with oral anticoagulation to a target INR of 3.5 was similar to that in groups of patients treated with lower target ratios. Although a double-blind crossover trial comparing low molecular weight heparin with placebo in patients with aPL and chronic headaches did not show a significant difference in the beneficial effect of low molecular weight heparin versus placebo, in our experience selected patients with aPL and neuropsychiatric manifestations such as seizures, severe cognitive dys-function, and intractable headaches unresponsive to conventional treatment may respond to anticoagulant treatment. The neurologic ramifications of Hughes syndrome are extensive, and it behoves clinicians in all specialties to be aware of this syndrome because treatment with anticoagulation may profoundly change the outlook for these patients. PMID:16880079

  3. Gene Therapy for Neurologic Manifestations of Mucopolysaccharidoses

    PubMed Central

    Wolf, Daniel A.; Banerjee, Sharbani; Hackett, Perry B.; Whitley, Chester B.; McIvor, R. Scott; Low, Walter C.

    2015-01-01

    Introduction Mucopolysaccharidoses are a family of lysosomal disorders caused by mutations in genes that encode enzymes involved in the catabolism of glycoaminoglycans. These mutations affect multiple organ systems and can be particularly deleterious to the nervous system. At the present time, enzyme replacement therapy and hematopoietic stem-cell therapy are used to treat patients with different forms of these disorders. However, to a great extent the nervous system is not adequately responsive to current therapeutic approaches. Areas Covered Recent advances in gene therapy show great promise for treating mucopolysaccharidoses. This article reviews the current state of the art for routes of delivery in developing genetic therapies for treating the neurologic manifestations of mucopolysaccharidoses. Expert Opinion Gene therapy for treating neurological manifestations of mucopolysaccharidoses can be achieved by intraventricular, intrathecal, intranasal, and systemic administration. The intraventricular route of administration appears to provide the most wide-spread distribution of gene therapy vectors to the brain. The intrathecal route of delivery results in predominant distribution to the caudal areas of the brain while the intranasal route of delivery results in good distribution to the rostral areas of brain. The systemic route of delivery via intravenous delivery can also achieve wide spread delivery to the CNS, however, the distribution to the brain is greatly dependent on the vector system. Intravenous delivery using lentiviral vectors appear to be less effective than adeno-associated viral (AAV) vectors. Moreover, some subtypes of AAV vectors are more effective than others in crossing the blood-brain-barrier. In summary, the recent advances in gene vector technology and routes of delivery to the CNS will facilitate the clinical translation of gene therapy for the treatment of the neurological manifestations of mucopolysaccharidoses. PMID:25510418

  4. Manifestation of psoriasis in the oral cavity.

    PubMed

    Fatahzadeh, Mahnaz

    2016-01-01

    Despite the common prevalence of cutaneous psoriasis, the existence of manifestations in the oral cavity is subject to controversy. In this article, dermatologic psoriasis is reviewed, and a patient with generalized, symptomatic oral mucosal erythema resembling atrophic candidiasis synchronous with flare of chronic skin psoriasis is described. Diagnostic work up and therapeutic response supported that these mucosal findings were the oral counterpart of cutaneous disease. Dental providers should be familiar with the signs and symptoms of oral psoriasis, institute appropriate preventive measures, and provide palliation directed at symptomatic oral changes of psoriasis. PMID:26665263

  5. LYMPHOBLASTOMAS IN CHILDHOODCutaneous Manifestations

    PubMed Central

    Nelson, Lawrence M.

    1953-01-01

    The lymphoblastomas occurring in childhood are divided for purposes of discussion into lymphocytoma cutis, mycosis fungoides, lymphosarcoma, Hodgkin's disease, and leukemia. The cutaneous lesions may be either specific (as a result of the infiltration of the skin with specific cells of the conditions) or toxic (non-specific). With the possible exception of mycosis fungoides, the cutaneous manifestations are not diagnostic. The final diagnosis depends upon microscopic examination of the specific tissue involved and the coordination of the clinical and microscopic findings. PMID:13032796

  6. Extrahepatic Manifestations of Hepatitis C Virus.

    PubMed

    Viganò, Mauro; Colombo, Massimo

    2015-12-01

    Chronic infection with the hepatitis C virus (HCV) is a major cause of liver disease worldwide and is also responsible for extrahepatic manifestations (EHMs) involving the skin, kidneys, salivary glands, eyes, thyroid, and immune system. Mixed cryoglobulinemia is the prototype EHM related to HCV infection. Although these HCV-related EHMs may contribute to significant rates of morbidity affecting patient's quality of life and survival, most of these complications can reverse after HCV eradication by interferon therapy. This notwithstanding, individual patients may have an irreversible injury in various organs that is not reversed by a cure of the HCV infection. PMID:26600219

  7. Ocular manifestations of neurofibromatosis 1 - m. Recklinghausen.

    PubMed

    Gromova, M; Gerinec, A

    2008-01-01

    Neurofibromatosis type 1 (NF 1) - morbus von Recklinghausen is an autosomal dominant phacomatosis with variable expression. The gene for NF 1 is located on chromosome 17q11.2. Incidence is 1 in 3500 live births. The diagnosis is made on the basis of clinical manifestations. Diagnosis requires the presence of 2 or more major criteria: 6 or more caf au lait spots, 2 or more cutaneous neurofibromas or 1 plexiform neurofibroma, an optic nerve glioma, 2 or more iris Lisch nodules, axillary or inguinal freckling, bony lesions--pseudoarthrosis, sphenoid wing hypoplasia, or a first-degree relative with NF 1. PMID:18634177

  8. Ocular manifestations of neurofibromatosis 1--m. Recklinghausen.

    PubMed

    Gromova, M; Gerinec, A

    2008-01-01

    Neurofibromatosis type 1 (NF 1)--morbus von Recklinghausen is an autosomal dominant phacomatosis with variable expression. The gene for NF 1 is located on chromosome 17q11.2. Incidence is 1 in 3500 live births. The diagnosis is made on the basis of clinical manifestations. Diagnosis requires the presence of 2 or more major criteria: 6 or more caf au lait spots, 2 or more cutaneous neurofibromas or 1 plexiform neurofibroma, an optic nerve glioma, 2 or more iris Lisch nodules, axillary or inguinal freckling, bony lesions--pseudoarthrosis, sphenoid wing hypoplasia, or a first-degree relative with NF 1. PMID:18700436

  9. Manifestation of optical activity in different materials

    NASA Astrophysics Data System (ADS)

    Konstantinova, A. F.; Golovina, T. G.; Konstantinov, K. K.

    2014-07-01

    Various manifestations of optical activity (OA) in crystals and organic materials are considered. Examples of optically active enantiomorphic and nonenantiomorphic crystals of 18 symmetry classes are presented. The OA of enantiomorphic organic materials as components of living nature (amino acids, sugars, and proteins) is analyzed. Questions related to the origin of life on earth are considered. Examples of differences in the enantiomers of drugs are shown. The consequences of replacing conventional left-handed amino acids with additionally right-handed amino acids for living organisms are indicated.

  10. Skin manifestations of chronic kidney disease.

    PubMed

    Robles-Mendez, J C; Vazquez-Martinez, O; Ocampo-Candiani, J

    2015-10-01

    Skin manifestations associated with chronic kidney disease are very common. Most of these conditions present in the end stages and may affect the patient's quality of life. Knowledge of these entities can contribute to establishing an accurate diagnosis and prognosis. Severe renal pruritus is associated with increased mortality and a poor prognosis. Nail exploration can provide clues about albumin and urea levels. Nephrogenic systemic fibrosis is a preventable disease associated with gadolinium contrast. Comorbidities, such as diabetes mellitus and secondary hyperparathyroidism, can lead to acquired perforating dermatosis and calciphylaxis, respectively. Effective and innovative treatments are available for all of these conditions. PMID:26093993

  11. [Clinical manifestations and treatment of schistosomiasis hematobia].

    PubMed

    Hua, Hai-yong; Ren, Guang-hui; Liang, You-sheng

    2014-08-01

    Schistosomiasis hematobia is one major human schistosomiasis. The disease is endemic in Africa and Mediterra- nean region, and is the main cause of urogenital diseases. Although only Schistosoma japonicum is spreading across the Mainland China, now more schistosomiasis hematobia cases are reported among aid projects and migrant workers to Africa, with the economy development and the increasing degree of foreign exchanges. Meanwhile, the relevant clinical data of.schistosomiasis hematobia are rare in China. This article reviews the clinical manifestations and progress in diagnosis and treatment of the disease. PMID:25507728

  12. [Clinical manifestations and treatment of schistosomiasis hematobia].

    PubMed

    Hua, Hai-yong; Ren, Guang-hui; Liang, You-sheng

    2014-08-01

    Schistosomiasis hematobia is one major human schistosomiasis. The disease is endemic in Africa and Mediterra- nean region, and is the main cause of urogenital diseases. Although only Schistosoma japonicum is spreading across the Mainland China, now more schistosomiasis hematobia cases are reported among aid projects and migrant workers to Africa, with the economy development and the increasing degree of foreign exchanges. Meanwhile, the relevant clinical data of.schistosomiasis hematobia are rare in China. This article reviews the clinical manifestations and progress in diagnosis and treatment of the disease. PMID:25434130

  13. Ocular manifestations of infectious skin diseases.

    PubMed

    Sadowska-Przytocka, Anna; Czarnecka-Operacz, Magdalena; Jenerowicz, Dorota; Grzybowski, Andrzej

    2016-01-01

    Ocular complications of infectious skin diseases are a common occurrence. Managing the inflamed or infected eye in the emergency setting presents a diagnostic and therapeutic challenge to the emergency physician. Infectious agents may affect any part of the eye. Ocular findings may be the first sign of many infectious diseases, such as, for example, gonorrhea or chlamydia infection. Understanding the various forms of ocular involvement in these conditions is important, because untreated ophthalmic involvement can lead to severe vision loss. This review focuses on the significant ocular manifestations of the most common infectious diseases, including bacterial, viral, fungal, and parasitic infections, that both ophthalmologists and dermatologists may encounter. PMID:26903179

  14. Manifestly Local Theory of Vacuum Energy Sequestering.

    PubMed

    Kaloper, Nemanja; Padilla, Antonio; Stefanyszyn, David; Zahariade, George

    2016-02-01

    We present a manifestly local, diffeomorphism invariant, and locally Poincaré invariant formulation of vacuum energy sequestering. In this theory, quantum vacuum energy generated by matter loops is canceled by auxiliary fields. The auxiliary fields decouple from gravity almost completely. Their only residual effect is an a priori arbitrary, finite contribution to the curvature of the background geometry, which is radiatively stable. Its value is to be determined by a measurement, like the finite part of any radiatively stable UV-sensitive quantity in quantum field theory. PMID:26894700

  15. Manifestly Local Theory of Vacuum Energy Sequestering

    NASA Astrophysics Data System (ADS)

    Kaloper, Nemanja; Padilla, Antonio; Stefanyszyn, David; Zahariade, George

    2016-02-01

    We present a manifestly local, diffeomorphism invariant, and locally Poincaré invariant formulation of vacuum energy sequestering. In this theory, quantum vacuum energy generated by matter loops is canceled by auxiliary fields. The auxiliary fields decouple from gravity almost completely. Their only residual effect is an a priori arbitrary, finite contribution to the curvature of the background geometry, which is radiatively stable. Its value is to be determined by a measurement, like the finite part of any radiatively stable UV-sensitive quantity in quantum field theory.

  16. Ophthalmological Manifestations of ENT Diseases: An Overview.

    PubMed

    Ghosh, Debangshu; Khanna, Swagata; Baruah, D K

    2013-07-01

    A total number of 62 cases of ophthalmological manifestations caused by various ENT diseases, mostly paranasal tumour extensions, nasopharyngeal tumour and furunculosis of nose were analysed in a retrospective study in relation to their age, sex, clinical, radiological and HP profile. CT scan was considered as the most dependable investigating tool. Different modalities of medical and surgical treatment have been adopted according to location and nature of the disease. A close cooperation is needed between otolaryngologist and ophthalmologist to overcome this challenge. PMID:24427566

  17. Dermatologic manifestations of diabetes mellitus: a review.

    PubMed

    Murphy-Chutorian, Blair; Han, George; Cohen, Steven R

    2013-12-01

    Diabetes mellitus affects every organ of the body including the skin. Certain skin manifestations of diabetes are considered cutaneous markers of the disease, whereas others are nonspecific conditions that occur more frequently among individuals with diabetes compared with the general population. Diabetic patients have an increased susceptibility to some bacterial and fungal skin infections, which account, in part, for poor healing. Skin complications of diabetes provide clues to current and past metabolic status. Recognition of cutaneous markers may slow disease progression and ultimately improve the overall prognosis by enabling earlier diagnosis and treatment. PMID:24286954

  18. Hydrocephalus, a rare manifestation of sarcoidosis

    PubMed Central

    van Rooijen, Johan M.; Mijnhout, Gerritje S.; Aalders, Tom T.A.; de Bondt, R.B.J.

    2011-01-01

    A 36-week-pregnant woman developed a symptomatic hydrocephalus. Chest imaging showed bihilar lymphadenopathy and histological examination of a mediastinal lymph node revealed non-caseating granulomas. After delivery, her neurologic complaints progressed. Placement of a ventriculoperitoneal drain (VPD) did not reduce the symptoms. However, steroids resulted in rapid disappearance of the hydrocephalus. Hydrocephalus is a very rare manifestation of sarcoidosis. The diagnosis relies on the ability of clinicians to recognize this disorder. This case shows how a difference in opinion of the several specialists involved can lead to a delay in diagnosis and treatment. PMID:24765327

  19. Canine MPV17 truncation without clinical manifestations

    PubMed Central

    Hnninen, Reetta L.; Ahonen, Saija; Mrquez, Merce; Myhnen, Maarit J.; Hytnen, Marjo K.; Lohi, Hannes

    2015-01-01

    ABSTRACT Mitochondrial DNA depletion syndromes (MDS) are often serious autosomal recessively inherited disorders characterized by tissue-specific mtDNA copy number reduction. Many genes, including MPV17, are associated with the hepatocerebral form of MDS. MPV17 encodes for a mitochondrial inner membrane protein with a poorly characterized function. Several MPV17 mutations have been reported in association with a heterogeneous group of early-onset manifestations, including liver disease and neurological problems. Mpv17-deficient mice present renal and hearing defects. We describe here a MPV17 truncation mutation in dogs. We found a 1-bp insertion in exon 4 of the MPV17 gene, resulting in a frameshift and early truncation of the encoded protein. The mutation halves MPV17 expression in the lymphocytes of the homozygous dogs and the truncated protein is not translated in transfected cells. The insertion mutation is recurrent and exists in many unrelated breeds, although is highly enriched in the Boxer breed. Unexpectedly, despite the truncation of MPV17, we could not find any common phenotypes in the genetically affected dogs. The lack of observable phenotype could be due to a late onset, mild symptoms or potential tissue-specific compensatory mechanisms. This study suggests species-specific differences in the manifestation of the MPV17 defects and establishes a novel large animal model to further study MPV17 function and role in mitochondrial biology. PMID:26353863

  20. Skin manifestations of immunodeficiencies in children.

    PubMed

    Torchia, D; Connelly, E A

    2010-04-01

    Immunodeficiency is a state in which the immune system's ability to fight infectious diseases is compromised or entirely absent. Most cases of immunodeficiency are acquired (secondary) but some people are born with defects in the immune system, or primary immunodeficiency. More than 140 distinct genes have been identified, which abnormalities account for more than 200 different forms of primary immunodeficiencies. The skin may be one of the organs involved in immunodeficiencies and in a number of primary immunodeficiency syndromes the skin is one of the main clues to the diagnosis and dermatologists may be the first to appreciate an immune defect in their patients. From "A" of well-known ataxia-telangiectasia to "Z" of recently identified zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) deficiency, this review attempts to provide a complete and up-to-date summary of all known primary immunodeficiencies featuring skin manifestations and presenting in the pediatric population. Given the vastness of the topic etiopathogenesis, extracutaneous manifestations, diagnosis, treatment and prognosis were not discussed unless briefly. We hope that this effort will help specialists to facilitate the recognition of primary immunodeficiencies and therefore early diagnosis and management. PMID:20467400

  1. Hematologic manifestations of Helicobacter pylori infection

    PubMed Central

    Campuzano-Maya, Germán

    2014-01-01

    Helicobacter pylori (H. pylori) is the most common infection in humans, with a marked disparity between developed and developing countries. Although H. pylori infections are asymptomatic in most infected individuals, they are intimately related to malignant gastric conditions such as gastric cancer and gastric mucosa-associated lymphoid tissue (MALT) lymphoma and to benign diseases such as gastritis and duodenal and gastric peptic ulcers. Since it was learned that bacteria could colonize the gastric mucosa, there have been reports in the medical literature of over 50 extragastric manifestations involving a variety medical areas of specialization. These areas include cardiology, dermatology, endocrinology, gynecology and obstetrics, hematology, pneumology, odontology, ophthalmology, otorhinolaryngology and pediatrics, and they encompass conditions with a range of clear evidence between the H. pylori infection and development of the disease. This literature review covers extragastric manifestations of H. pylori infection in the hematology field. It focuses on conditions that are included in international consensus and management guides for H. pylori infection, specifically iron deficiency, vitamin B12 (cobalamin) deficiency, immune thrombocytopenia, and MALT lymphoma. In addition, there is discussion of other conditions that are not included in international consensus and management guides on H. pylori, including auto-immune neutropenia, antiphospholipid syndrome, plasma cell dyscrasias, and other hematologic diseases. PMID:25278680

  2. [Ebola: characterization, history and cutaneous manifestations].

    PubMed

    Kolbach, Marianne; Carrasco-Zuber, Juan Eduardo; Vial-Letelier, Verónica

    2015-11-01

    Ebola virus (EV) is one of the most virulent human pathogens. Fruits bats are its natural reservoir, the transmission to humans is across wild animals (especially primates) and the propagation in human populations is through bodily fluid contact. The actual outbreak started in December 2013 and crossed continental borders. Up to now, there are 17,145 suspected and confirmed cases with 6,070 deaths, resulting a total case fatality rate of 35%. Clinical manifestations can be divided in 3 phases. In phase I, symptoms are similar to flu, which may appear in a range of 2 to 21 days. In phase II which occurs in over 50% of cases, visceral symptoms and mucocutaneous manifestations appear within 4 and 5 days of the onset of symptoms. The main symptoms are a macular or maculopapular non-pruritic rash, desquamation and mucosal involvement of eyes, mouth and pharynx. In phase III, recovery or death occurs. The diagnosis is made on clinical grounds, epidemiological suspicion and a positive polymerase chain reaction (PCR) test. The treatment is supportive. If there is a suspected case, it should be notified immediately and all relevant safety measures should be instituted. PMID:26757869

  3. Neurological manifestations in patients with antiphospholipid syndrome

    PubMed Central

    Etemadifar, Masoud; Tahani, Soheil; Toghianifar, Nafiseh; Rahaimi, Marzieh; Eskandari, Nahid

    2013-01-01

    Background Anti-phospholipids syndrome (APS) is considered a non inflammatory auto-immune disease with a significant thrombophilic risk with varied clinical manifestations. The purpose of the current study was to investigate the frequency of thrombotic and non-thrombotic events in patients with APS. Methods In this retrospective study, 102 definite APS subjects were recruited (2007-2011) at Alzahra Hospital, Isfahan, Iran. The patients were referred to Multiple Sclerosis Clinic with the diagnosis of definite APS according to 2006 Sydney's criteria. Disorders associated with APS such as pregnancy complication, vascular thrombosis and livedo reticularis (LR) were assessed. Neurological signs and symptoms such as cognitive dysfunction were recorded. Data analyses were performed using SPSS software and P < 0.05 were considered to be statistically significant. Results Our findings showed that majority of female gender, higher rate of ischemic thrombotic stroke and high miscarriage lied in a large number of APS patients. Conclusion Overall recurrent miscarriage is a common complication among (antiphospholidpid antibody) aPL patients. Furthermore, ischemic stroke is the second common neurological manifestations of APS patients. PMID:24250929

  4. CANDLE SYNDROME: Orodfacial manifestations and dental implications.

    PubMed

    Roberts, T; Stephen, L; Scott, C; di Pasquale, T; Naser-Eldin, A; Chetty, M; Shaik, S; Lewandowski, L; Beighton, P

    2015-01-01

    A South African girl with CANDLE Syndrome is reported with emphasis on the orodental features and dental management. Clinical manifestations included short stature, wasting of the soft tissue of the arms and legs, erythematous skin eruptions and a prominent abdomen due to hepatosplenomegaly. Generalized microdontia, confirmed by tooth measurement and osteopenia of her jaws, confirmed by digitalized radiography, were previously undescribed syndromic components. Intellectual impairment posed problems during dental intervention. The carious dental lesions and poor oral hygiene were treated conservatively under local anaesthetic. Prophylactic antibiotics were administered an hour before all procedures.Due to the nature of her general condition, invasive dental procedures were minimal. Regular follow-ups were scheduled at six monthly intervals. During this period, her overall oral health status had improved markedly.The CANDLE syndrome is a rare condition with grave complications including immunosuppression and diabetes mellitus. As with many genetic disorders, the dental manifestations are often overshadowed by other more conspicuous and complex syndromic features. Recognition of both the clinical and oral changes that occur in the CANDLE syndrome facilitates accurate diagnosis and appropriate dental management of this potentially lethal condition. PMID:26711936

  5. Periodontal manifestations of von Recklinghausen neuro fibromatosis.

    PubMed

    Shetty, Bhavya; Umesh, Y; Kranti, K; Seshan, Hema

    2013-03-01

    Neurofibroma is an uncommon benign tumor of the oral cavity derived from the cells that constitute the nerve sheath neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is the most common type of neurofibromatosis and accounts for about 90% of all cases. It is one of the most frequent human genetic diseases, with the prevalence of one case in 3,000 births. Neurofibroma is seen either as a solitary lesion or as part of the generalized syndrome of neurofibromatosis. The solitary form does not differ from the disseminated form or the multiple form of the disease, except that systemic and hereditary factors present in the disseminated form are absent in the solitary type. Oral cavity involvement by a solitary and peripheral plexiform neurofibroma in patients with no other signs of neurofibromatosis is uncommon. The expressivity of NF1 is extremely variable, with manifestations ranging from mild lesions to several complications and functional impairment. Oral manifestations can be found in almost 72% of NF1 patients. This is a case report of a 40-year-old lady with a history of multiple faint rounded densities in the skin, chest pain occasionally since 8 months and breathlessness since 1 year and swelling of the right side of the angle of the mandible with limited mouth opening. PMID:23869137

  6. Clinical manifestation of mitochondrial diseases in children.

    PubMed

    Mak, S C; Chi, C S; Chen, C H; Shian, W J

    1993-01-01

    Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons. PMID:8213154

  7. Canine MPV17 truncation without clinical manifestations.

    PubMed

    Hnninen, Reetta L; Ahonen, Saija; Mrquez, Merce; Myhnen, Maarit J; Hytnen, Marjo K; Lohi, Hannes

    2015-01-01

    Mitochondrial DNA depletion syndromes (MDS) are often serious autosomal recessively inherited disorders characterized by tissue-specific mtDNA copy number reduction. Many genes, including MPV17, are associated with the hepatocerebral form of MDS. MPV17 encodes for a mitochondrial inner membrane protein with a poorly characterized function. Several MPV17 mutations have been reported in association with a heterogeneous group of early-onset manifestations, including liver disease and neurological problems. Mpv17-deficient mice present renal and hearing defects. We describe here a MPV17 truncation mutation in dogs. We found a 1-bp insertion in exon 4 of the MPV17 gene, resulting in a frameshift and early truncation of the encoded protein. The mutation halves MPV17 expression in the lymphocytes of the homozygous dogs and the truncated protein is not translated in transfected cells. The insertion mutation is recurrent and exists in many unrelated breeds, although is highly enriched in the Boxer breed. Unexpectedly, despite the truncation of MPV17, we could not find any common phenotypes in the genetically affected dogs. The lack of observable phenotype could be due to a late onset, mild symptoms or potential tissue-specific compensatory mechanisms. This study suggests species-specific differences in the manifestation of the MPV17 defects and establishes a novel large animal model to further study MPV17 function and role in mitochondrial biology. PMID:26353863

  8. Pulmonary manifestations of gastroesophageal reflux disease

    PubMed Central

    Gaude, Gajanan S.

    2009-01-01

    Gastroesophageal reflux disease (GERD) may cause, trigger or exacerbate many pulmonary diseases. The physiological link between GERD and pulmonary disease has been extensively studied in chronic cough and asthma. A primary care physician often encounters patients with extra esophageal manifestations of GERD in the absence of heartburn. Patients may present with symptoms involving the pulmonary system; noncardiac chest pain; and ear, nose and throat disorders. Local irritation in the esophagus can cause symptoms that vary from indigestion, like chest discomfort and abdominal pain, to coughing and wheezing. If the gastric acid reaches the back of the throat, it may cause a bitter taste in the mouth and/or aspiration of the gastric acid into the lungs. The acid can cause throat irritation, postnasal drip and hoarseness, as well as recurrent cough, chest congestion and lung inflammation leading to asthma and/or bronchitis/ pneumonia. This clinical review examines the potential pathophysiological mechanisms of pulmonary manifestations of GERD. It also reviews relevant clinical information concerning GERD-related chronic cough and asthma. Finally, a potential management strategy for GERD in pulmonary patients is discussed. PMID:19641641

  9. Lower extremity manifestations of Vibrio vulnificus infection.

    PubMed

    Laughlin, T J; Lavery, L A

    1995-01-01

    Vibrio vulnificus is a potentially lethal marine bacterium that has not been previously described in podiatric literature. A review of the microorganism's characteristics, susceptible patient population, and lower extremity manifestations of infection is presented. V. vulnificus is found as part of the normal flora of the Gulf of Mexico, Atlantic, and Pacific coastal waters and is often isolated from the filter feeding shellfish of these regions. Its pathogenicity is generally reserved for the immunocompromised host, and is specifically related to disease states which exhibit high serum iron levels. V. vulnificus infections present in two distinct clinical syndromes: primary sepsis secondary to raw oyster ingestion, or localized infection from wound exposure to V. vulnificus-inhabited salt water. Both syndromes demonstrate characteristic skin lesions of the trunk and extremities that present as hemorrhagic bullae and progress to necrotic ulcerations. Although V. vulnificus infection is rare, its extreme virulence in patients suffering from a chronic disease process and its manifestation of characteristic lower-extremity lesions require the podiatric physician to be able to recognize and treat such a condition. PMID:7488992

  10. 8 CFR 251.1 - Arrival manifests and lists.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 8 Aliens and Nationality 1 2010-01-01 2010-01-01 false Arrival manifests and lists. 251.1 Section 251.1 Aliens and Nationality DEPARTMENT OF HOMELAND SECURITY IMMIGRATION REGULATIONS ARRIVAL AND DEPARTURE MANIFESTS AND LISTS: SUPPORTING DOCUMENTS 251.1 Arrival manifests and lists. (a) Vessels(1) General. The master or agent of every...

  11. 19 CFR 122.48 - Air cargo manifest.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... AIR COMMERCE REGULATIONS Aircraft Entry and Entry Documents; Electronic Manifest Requirements for... paragraphs (d) and (e) of this section, an air cargo manifest need not be filed or retained aboard the... air express or freight shall be manifested as other air express or freight. (e) Accompanied baggage...

  12. 19 CFR 122.48 - Air cargo manifest.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 1 2011-04-01 2011-04-01 false Air cargo manifest. 122.48 Section 122.48 Customs... AIR COMMERCE REGULATIONS Aircraft Entry and Entry Documents; Electronic Manifest Requirements for..., and Overflying the United States 122.48 Air cargo manifest. (a) When required. Except as provided...

  13. 40 CFR 263.25 - Electronic manifest signatures.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 40 Protection of Environment 26 2014-07-01 2014-07-01 false Electronic manifest signatures. 263.25 Section 263.25 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) SOLID WASTES... Recordkeeping § 263.25 Electronic manifest signatures. (a) Electronic manifest signatures shall meet...

  14. 40 CFR 262.23 - Use of the manifest.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... returned to the generator by the designated facility (following the procedures of 40 CFR 264.72(f) or 265...) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.23 Use of the manifest. (a) The generator must: (1) Sign the manifest certification by hand; and (2) Obtain the handwritten signature of...

  15. 40 CFR 262.24 - Use of the electronic manifest.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... compliance with 49 CFR 177.817, a generator originating an electronic manifest must also provide the initial... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.24 Use of the electronic... requirement in these regulations for a generator to keep or retain a copy of each manifest is satisfied...

  16. 40 CFR 262.23 - Use of the manifest.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... returned to the generator by the designated facility (following the procedures of 40 CFR 264.72(f) or 265...) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.23 Use of the manifest. (a) The generator must: (1) Sign the manifest certification by hand; and (2) Obtain the handwritten signature of...

  17. 40 CFR 262.23 - Use of the manifest.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... returned to the generator by the designated facility (following the procedures of 40 CFR 264.72(f) or 265...) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.23 Use of the manifest. (a) The generator must: (1) Sign the manifest certification by hand; and (2) Obtain the handwritten signature of...

  18. 40 CFR 262.23 - Use of the manifest.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... returned to the generator by the designated facility (following the procedures of 40 CFR 264.72(f) or 265...) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.23 Use of the manifest. (a) The generator must: (1) Sign the manifest certification by hand; and (2) Obtain the handwritten signature of...

  19. 40 CFR 262.23 - Use of the manifest.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... returned to the generator by the designated facility (following the procedures of 40 CFR 264.72(f) or 265...) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.23 Use of the manifest. (a) The generator must: (1) Sign the manifest certification by hand; and (2) Obtain the handwritten signature of...

  20. 19 CFR 122.48 - Air cargo manifest.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 19 Customs Duties 1 2013-04-01 2013-04-01 false Air cargo manifest. 122.48 Section 122.48 Customs... AIR COMMERCE REGULATIONS Aircraft Entry and Entry Documents; Electronic Manifest Requirements for..., and Overflying the United States 122.48 Air cargo manifest. (a) When required. Except as provided...

  1. 8 CFR 251.1 - Arrival manifests and lists.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 8 Aliens and Nationality 1 2014-01-01 2014-01-01 false Arrival manifests and lists. 251.1 Section 251.1 Aliens and Nationality DEPARTMENT OF HOMELAND SECURITY IMMIGRATION REGULATIONS ARRIVAL AND DEPARTURE MANIFESTS AND LISTS: SUPPORTING DOCUMENTS 251.1 Arrival manifests and lists. (a) Vessels(1) General. The master or agent of every...

  2. 49 CFR 172.205 - Hazardous waste manifest.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ...) hazardous waste manifest (manifest) is prepared in accordance with 40 CFR 262.20 and is signed, carried, and... in accordance with 40 CFR 263.22. (5) Before accepting hazardous waste from a rail transporter, a non.... (h) A hazardous waste manifest required by 40 CFR part 262, containing all of the...

  3. 49 CFR 172.205 - Hazardous waste manifest.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ...) hazardous waste manifest (manifest) is prepared in accordance with 40 CFR 262.20 and is signed, carried, and... in accordance with 40 CFR 263.22. (5) Before accepting hazardous waste from a rail transporter, a non.... (h) A hazardous waste manifest required by 40 CFR part 262, containing all of the...

  4. 49 CFR 172.205 - Hazardous waste manifest.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ...) hazardous waste manifest (manifest) is prepared in accordance with 40 CFR 262.20 and is signed, carried, and... in accordance with 40 CFR 263.22. (5) Before accepting hazardous waste from a rail transporter, a non.... (h) A hazardous waste manifest required by 40 CFR part 262, containing all of the...

  5. 49 CFR 172.205 - Hazardous waste manifest.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ...) hazardous waste manifest (manifest) is prepared in accordance with 40 CFR 262.20 and is signed, carried, and... in accordance with 40 CFR 263.22. (5) Before accepting hazardous waste from a rail transporter, a non.... (h) A hazardous waste manifest required by 40 CFR part 262, containing all of the...

  6. 49 CFR 172.205 - Hazardous waste manifest.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ...) hazardous waste manifest (manifest) is prepared in accordance with 40 CFR 262.20 and is signed, carried, and... in accordance with 40 CFR 263.22. (5) Before accepting hazardous waste from a rail transporter, a non.... (h) A hazardous waste manifest required by 40 CFR part 262, containing all of the...

  7. 77 FR 54863 - Polychlorinated Biphenyls (PCBs): Revisions to Manifesting Regulations

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-06

    ..., which uses the Resource Conservation and Recovery Act (RCRA) Uniform Hazardous Waste Manifest, under the Toxic Substances Control Act (TSCA). Today's changes are to match, as much as possible, the manifesting requirements for PCBs under TSCA to the manifesting requirements for hazardous waste under RCRA, of which...

  8. Ocular and skin manifestations in systemic pseudohypoaldosteronism

    PubMed Central

    Eliwa, Mahmoud Salah; El-Emmawie, Aymen Hussein; Saeed, Mahmood Ahmad

    2014-01-01

    Pseudohypoaldosteronism type-1 is a rare disorder characterised by end-organ resistance to aldosterone resulting in salt-losing crisis with hyponatraemic dehydration, hyperkalaemia and metabolic acidosis. We report two siblings with pseudohypoaldosteronism type-1 who presented early in neonatal period with hyponatraemia, severe hyperkalaemia and metabolic acidosis. Both babies had miliaria like skin rash which flared up during episodes of hyperkalaemia and hyponatraemia. They had visible dilated meibomian glands from which a white material was protruding. The clinical presentation of pseudohypoaldosteronism type-1 mimics congenital adrenal hyperplasia. As there is often a delay in obtaining hormonal assay results, the eye and skin manifestations may give an important diagnostic clue which in turn will influence management. PMID:24654255

  9. Neurologic manifestations of chronic methamphetamine abuse

    PubMed Central

    Rusyniak, Daniel E.

    2011-01-01

    Summary Chronic methamphetamine abuse has devastating effects on the central nervous system. The degree to which addicts will tolerate the dysfunction in the way they think, feel, move, and even look, is a powerful testimony to the addictive properties of this drug. While the mechanisms behind these disorders are complex, at their heart they involve the recurring increase in the concentrations of central monoamines with subsequent dysfunction in dopaminergic neurotransmission. The mainstay of treatment for the problems associated with chronic methamphetamine abuse is abstinence. However, by recognizing the manifestations of chronic abuse, clinicians will be better able to help their patients get treatment for their addiction and to deal with the neurologic complications related to chronic abuse. PMID:21803215

  10. Ocular manifestations in porphyria cutanea tarda.

    PubMed

    Gogri, Pratik Yeshwant; Misra, Neeta Somen; Misra, Somen

    2014-01-01

    A 24-year-old man presented with pain, sticky discharge and loss of vision in the right eye. He has had typical skin manifestations of porphyria cutanea tarda (PCT) since 6 years and ophthalmological symptom for 6 weeks. On ophthalmological examination, visual acuity was light perception in the right eye and 6/12 in the left. There were bilateral, symmetrical temporal scleromalacia along with temporal corneal melting in both eyes and perforation in the right eye. Ultrasonography B-scan (USG B-scan) revealed a retinal detachment in the right eye. Artificial tear instillation was started every hour along with topical antibiotic coverage in both eyes. Additionally, ultraviolet protective sunglasses and hat for photo-protection was advised. The vision in the right eye improved to 5/60 along with subsidence of retinal detachment on repeat USG B-scan after 3 weeks. PMID:24811555

  11. Oral manifestations in chronic uremia patients.

    PubMed

    Dioguardi, Mario; Caloro, Giorgia Apollonia; Troiano, Giuseppe; Giannatempo, Giovanni; Laino, Luigi; Petruzzi, Massimo; Lo Muzio, Lorenzo

    2016-02-01

    The incidence of chronic renal failure (CRF) is approximately 200 cases per million people in different Western countries. Recent data indicate that the incidences of these pathologies are increasing. Ninety percent of patients with CRF report oral signs and symptoms that affect both the bone and soft tissues. A broad range of lesions may be observed in chronic uratemia patients, including the following: gingival hyperplasia, enamel hypoplasia, petechiae, gingival bleeding, and others lesions. These patients require various types of treatment ranging from dietary and lifestyle changes to dialysis and kidney transplantation. CRF often leads to multiple oral manifestations that are difficult for dentists to manage. The present study examined the characteristics of this disease, the existing therapeutic options and the relevant considerations for dental professionals. PMID:26513593

  12. Supraesophageal manifestations of gastroesophageal reflux disease.

    PubMed

    Al-Sabbagh, G; Wo, J M

    1999-07-01

    An increasing amount of evidence indicates that gastroesophageal reflux disease (GERD) is a contributing factor to hoarseness, throat clearing, throat discomfort, chronic cough, and shortness of breath. The association between GERD and these supraesophageal symptoms may be elusive. Heartburn and regurgitation are absent in more than 50% of patients. Acid reflux should be considered if signs of GERD are present, symptoms are unexplained, or symptoms are refractory to therapy. The diagnosis of GERD may be unclear, despite a careful history and initial evaluation. A high index of suspicion is required to make the diagnosis. An empiric trial of antireflux therapy is appropriate when GERD is suspected. Multiprobe ambulatory pH monitoring is currently the diagnostic test of choice, but the level of sensitivity and specificity for supraesophageal manifestations of GERD is uncertain. Response to antireflux therapy is less predictable than typical GERD. More intensive acid suppression and longer treatment duration are usually required. PMID:10435698

  13. Photodamage: cause, clinical manifestations, and prevention.

    PubMed

    Nicol, N H; Fenske, N A

    1993-08-01

    It is now recognized that intrinsic aging changes are distinct from those caused by habitual exposure to the sun (photoaging). Not only are these sun-induced alterations unsightly, but they also serve as a marker for patients at risk for developing skin cancer. Because of increased leisure time and affluence in our society, and an emphasis on sunbathing and other outdoor recreational activities during the last few decades, photoaging and skin cancer are becoming an ever-increasing problem and source of concern for health care professionals. The purpose of this article is to review the cause, clinical manifestations, and implications of photodamage. Photoprotection and other preventive measures to minimize photoaging and the risk of skin cancer will be discussed. PMID:8363929

  14. Quantum manifestations of classical nonlinear resonances

    NASA Astrophysics Data System (ADS)

    Wisniacki, Diego A.; Schlagheck, Peter

    2015-12-01

    When an integrable classical system is perturbed, nonlinear resonances are born, grow, and eventually disappear due to chaos. In this paper the quantum manifestations of such a transition are studied in the standard map. We show that nonlinear resonances act as a perturbation that break eigenphase degeneracies for unperturbed states with quantum numbers that differ in a multiple of the order of the resonance. We show that the eigenphase splittings are well described by a semiclassical expression based on an integrable approximation of the Hamiltonian in the vicinity of the resonance. The morphology in phase space of these states is also studied. We show that the nonlinear resonance imprints a systematic influence in their localization properties

  15. [Radiological manifestations of Baastrup's disease in children].

    PubMed

    Arias Fernndez, J; Broncano Cabrero, J; Bonda Gracia, J M; Aquerreta Beola, J D

    2013-09-01

    Baastrup's disease is not usually considered among the possible causes of low back pain in children. Classically, Baastrup's disease is characterized by degenerative phenomena secondary to friction between adjacent spinous processes, with sclerosis of the margins and decrease in the interspinous space. Baastrup's disease becomes more prevalent with age and is usually accompanied by degenerative changes in the vertebral column, such as lumbar facet hypertrophy or disc disease. Certain activities like dance or gymnastics can make Baastrup's disease more likely to appear at an earlier age. In children, Baastrup's disease can manifest in a different way, with increased interspinous spaces and bone remodeling. In this article, we present the cases of two patients with low back pain who were diagnosed with Baastrup's disease. PMID:21958726

  16. Pulmonary manifestations of inflammatory bowel disease

    PubMed Central

    Majewski, Sebastian

    2015-01-01

    Bronchopulmonary signs and symptoms are examples of variable extraintestinal manifestations of the inflammatory bowel diseases (IBD). These complications of Crohn's disease (CD) and ulcerative colitis (UC) seem to be underrecognized by both pulmonary physicians and gastroenterologists. The objective of the present review was to gather and summarize information on this particular matter, on the basis of available up-to-date literature. Tracheobronchial involvement is the most prevalent respiratory presentation, whereas IBD-related interstitial lung disease is less frequent. Latent and asymptomatic pulmonary involvement is not unusual. Differential diagnosis should always consider infections (mainly tuberculosis) and drug-induced lung pathology. The common link between intestinal disease and lung pathology is unknown, but many hypotheses have been proposed. It is speculated that environmental pollution, common immunological mechanisms and predisposing genetic factors may play a role. PMID:26788078

  17. Common dermatologic manifestations of primary immune deficiencies.

    PubMed

    Relan, Manisha; Lehman, Heather K

    2014-12-01

    The skin is the largest organ of our body; it consists of the epidermis, dermis, hair follicles, sweat glands, blood vessels, and connective tissue matrix. Its main function is to act as a barrier to the outside world and protect us from infections. Any component of the skin is subject to insults from the environment and/or from within the body. Primary immune deficiency patients present with recurrent or prolonged infections not frequently seen in healthy individuals. Oftentimes, these infections involve the skin. Primary immune deficiency may also present with noninfectious cutaneous signs, such as eczema; erythroderma; granulomas; dysplasia of the skin, hair, nails, or teeth; pigmentary changes; angioedema; urticaria; vasculitis; or autoimmune skin disease due to immune dysregulation. Prompt recognition of the underlying diagnosis and initiation of treatment decrease morbidity. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of primary immune deficiency diseases. PMID:25269404

  18. Coronary Artery Manifestations of Fibromuscular Dysplasia

    PubMed Central

    Michelis, Katherine C.; Olin, Jeffrey W.; Kadian-Dodov, Daniella; d’Escamard, Valentina; Kovacic, Jason C.

    2015-01-01

    Fibromuscular dysplasia (FMD) involving the coronary arteries is an uncommon but important condition that can present as acute coronary syndrome, left ventricular dysfunction, or potentially sudden cardiac death. Although the classic angiographic “string of beads” that may be observed in renal artery FMD does not occur in coronary arteries, potential manifestations include spontaneous coronary artery dissection, distal tapering or long, smooth narrowing that may represent dissection, intramural hematoma, spasm, or tortuosity. Importantly, FMD must be identified in at least one other noncoronary arterial territory to attribute any coronary findings to FMD. Although there is limited evidence to guide treatment, many lesions heal spontaneously; thus, a conservative approach is generally preferred. The etiology is poorly understood, but there are ongoing efforts to better characterize FMD and define its genetic and molecular basis. This report reviews the clinical course of FMD involving the coronary arteries and provides guidance for diagnosis and treatment strategies. PMID:25190240

  19. [Classification of dermatologic manifestations in lupus erythematosus].

    PubMed

    Francs, Camille; Barete, Stphane; Ayoub, Nakhle; Piette, Jean-Charles

    2003-02-01

    Various dermatologic manifestations are observed in the different lupus subsets. Lupus lesions are characterized by a dermo-epidermal dermatitis. Other lesions, vascular or non vascular, are essentially present in association with systemic lupus erythematosus. Acute, subacute and chronic lupus erythematosus are distinguishable according to their clinical aspects, pathological features and evolution. Acute lesions are either localized to the midface or widespread. Subacute lesions may be annular or psoriasiform. Chronic lupus erythematosus includes localized or widespread discoid lupus, lupus tumidus, chilblain lupus and panniculitis. Therapy of cutaneous lupus is mainly based on antimalarials and avoidance of sun irradiation. In refractory cutaneous lupus, no universal guidelines are currently available. Except for acrosyndromes and urticaria-like lesions, vascular lesions may be due to vasculitis or thrombosis. An accurate diagnosis is absolutely necessary since therapy is different in thrombosis and vasculitis. Non vascular and non lupus lesions are numerous, some of them require special treatment such as dapsone for bullous lupus. PMID:12746657

  20. Extraintestinal manifestations in inflammatory bowel disease

    PubMed Central

    Danese, Silvio; Semeraro, Stefano; Papa, Alfredo; Roberto, Italia; Scaldaferri, Franco; Fedeli, Giuseppe; Gasbarrini, Giovanni; Gasbarrini, Antonio

    2005-01-01

    Inflammatory bowel diseases (IBD) can be really considered to be systemic diseases since they are often associated with extraintestinal manifestations, complications, and other autoimmune disorders. Indeed, physicians who care for patients with ulcerative colitis and Crohns disease, the two major forms of IBD, face a new clinical challenge every day, worsened by the very frequent rate of extraintestinal complications. The goal of this review is to provide an overview and an update on the extraintestinal complications occurring in IBD. Indeed, this paper highlights how virtually almost every organ system can be involved, principally eyes, skin, joints, kidneys, liver and biliary tracts, and vasculature (or vascular system) are the most common sites of systemic IBD and their involvement is dependent on different mechanisms. PMID:16437620

  1. Gastrointestinal manifestations in myotonic muscular dystrophy

    PubMed Central

    Bellini, Massimo; Biagi, Sonia; Stasi, Cristina; Costa, Francesco; Mumolo, Maria Gloria; Ricchiuti, Angelo; Marchi, Santino

    2006-01-01

    Myotonic dystrophy (MD) is characterized by myotonic phenomena and progressive muscular weakness. Involvement of the gastrointestinal tract is frequent and may occur at any level. The clinical manifestations have previously been attributed to motility disorders caused by smooth muscle damage, but histologic evidence of alterations has been scarce and conflicting. A neural factor has also been hypothesized. In the upper digestive tract, dysphagia, heartburn, regurgitation and dyspepsia are the most common complaints, while in the lower tract, abdominal pain, bloating and changes in bowel habits are often reported. Digestive symptoms may be the first sign of dystrophic disease and may precede the musculo-skeletal features. The impairment of gastrointestinal function may be sometimes so gradual that the patients adapt to it with little awareness of symptoms. In such cases routine endoscopic and ultrasonographic evaluations are not sufficient and targeted techniques (electrogastrography, manometry, electromyography, functional ultrasonography, scintigraphy, etc.) are needed. There is a low correlation between the degree of skeletal muscle involvement and the presence and severity of gastrointestinal disturbances whereas a positive correlation with the duration of the skeletal muscle disease has been reported. The drugs recommended for treating the gastrointestinal complaints such as prokinetic, anti-dyspeptic drugs and laxatives, are mainly aimed at correcting the motility disorders. Gastrointestinal involvement in MD remains a complex and intriguing condition since many important problems are still unsolved. Further studies concentrating on genetic aspects, early diagnostic techniques and the development of new therapeutic strategies are needed to improve our management of the gastrointestinal manifestations of MD. PMID:16609987

  2. When does an illness begin: genetic discrimination and disease manifestation.

    PubMed

    Prince, Anya E R; Berkman, Benjamin E

    2012-01-01

    The Genetic Information Nondiscrimination Act of 2008 (GINA) was passed to encourage patients to seek genetic testing that could improve health outcomes and provide opportunities for preventive measures. GINA protects individuals from discrimination based upon genetic information, but not upon manifested diseases and conditions. Because the manifestation of a disease establishes a threshold of protection for individuals under GINA, the definition of manifestation is crucial to understanding the scope of the bill. This paper examines the range of possible legal definitions of disease manifestation and explores the historical struggle that courts have faced when trying to apply these different definitions. Specifically, the paper examines three frameworks that courts have used in the past to interpret the manifestation of a disease; "manifestation as apparent symptoms,"manifestation as patient action," and "manifestation as physician action." We argue that the "manifestation as physician action" is the best framework to utilize in this law generally, but that the definition of manifestation should be read in the light most favorable to a plaintiff in order to achieve the underlying goals of GINA. PMID:23061591

  3. Paradoxical Manifestation is Common in HIV-negative Tuberculous Meningitis

    PubMed Central

    Tai, Mei-Ling Sharon; Nor, Hazman Mohd; Kadir, Khairul Azmi Abdul; Viswanathan, Shanthi; Rahmat, Kartini; Zain, Norzaini Rose Mohd; Ong, Kuo Ghee; Rafia, Mohd Hanip; Tan, Chong Tin

    2016-01-01

    Abstract Paradoxical manifestation is worsening of pre-existing tuberculous lesion or appearance of new lesions in patients whose condition initially improved with antituberculous treatment. Our hypothesis was that paradoxical manifestation in non-HIV tuberculous meningitis (TBM) patients was underestimated and this could contribute to patients’ prognosis. This was the first systemic study of paradoxical manifestation in HIV-negative TBM patients. Between 2009 and 2014, TBM patients were studied prospectively in 2 hospitals. Clinical features, cerebrospinal fluid, and radiological findings were monitored. Paradoxical manifestation was divided into definite (4 weeks or more) and probable (between 14 and 27 d) after commencement of antituberculous treatment. Forty-one non-HIV TBM patients were recruited. Definite paradoxical manifestation occurred in 23/41 (56%) of the patients. Time to onset of paradoxical manifestation was between 28 days and 9 months, and majority was between 28 and 50 days. Neuroimaging manifestation in the brain (22/41 patients, 54%) and clinical manifestation (22/41 patients, 54%) were most commonly seen, followed by cerebrospinal fluid manifestation (7/41 patients, 17%). Neuroimaging changes most commonly seen were worsening of leptomeningeal enhancement, new infarcts, new tuberculomas, and enlargement of tuberculoma. Initial Computed Tomography Angiography/magnetic resonance angiography brain showed vasculitis in 14 patients, with 2 (12.5%) showing paradoxical vasculitis during follow-up. Recurrence of the paradoxical manifestation was seen in 7/23 (30%) of the patients. More than half (14/23, 61%) of the patients improved, 6 (26%) patients died, and 3 (13%) patients had persistent neurological deficit. Paradoxical manifestation was very common in non-HIV TBM patients. Neuroimaging paradoxical manifestation of 2-4 weeks may not be paradoxical manifestation but could be delayed treatment response. PMID:26735523

  4. Paradoxical Manifestation is Common in HIV-negative Tuberculous Meningitis.

    PubMed

    Tai, Mei-Ling Sharon; Nor, Hazman Mohd; Kadir, Khairul Azmi Abdul; Viswanathan, Shanthi; Rahmat, Kartini; Zain, Norzaini Rose Mohd; Ong, Kuo Ghee; Rafia, Mohd Hanip; Tan, Chong Tin

    2016-01-01

    Paradoxical manifestation is worsening of pre-existing tuberculous lesion or appearance of new lesions in patients whose condition initially improved with antituberculous treatment. Our hypothesis was that paradoxical manifestation in non-HIV tuberculous meningitis (TBM) patients was underestimated and this could contribute to patients' prognosis. This was the first systemic study of paradoxical manifestation in HIV-negative TBM patients.Between 2009 and 2014, TBM patients were studied prospectively in 2 hospitals. Clinical features, cerebrospinal fluid, and radiological findings were monitored. Paradoxical manifestation was divided into definite (4 weeks or more) and probable (between 14 and 27 d) after commencement of antituberculous treatment.Forty-one non-HIV TBM patients were recruited. Definite paradoxical manifestation occurred in 23/41 (56%) of the patients. Time to onset of paradoxical manifestation was between 28 days and 9 months, and majority was between 28 and 50 days.Neuroimaging manifestation in the brain (22/41 patients, 54%) and clinical manifestation (22/41 patients, 54%) were most commonly seen, followed by cerebrospinal fluid manifestation (7/41 patients, 17%). Neuroimaging changes most commonly seen were worsening of leptomeningeal enhancement, new infarcts, new tuberculomas, and enlargement of tuberculoma. Initial Computed Tomography Angiography/magnetic resonance angiography brain showed vasculitis in 14 patients, with 2 (12.5%) showing paradoxical vasculitis during follow-up.Recurrence of the paradoxical manifestation was seen in 7/23 (30%) of the patients. More than half (14/23, 61%) of the patients improved, 6 (26%) patients died, and 3 (13%) patients had persistent neurological deficit.Paradoxical manifestation was very common in non-HIV TBM patients. Neuroimaging paradoxical manifestation of 2-4 weeks may not be paradoxical manifestation but could be delayed treatment response. PMID:26735523

  5. Detection of Disease Outbreaks by the Use of Oral Manifestations

    PubMed Central

    Torres-Urquidy, M.H.; Wallstrom, G.; Schleyer, T.K.L.

    2009-01-01

    Oral manifestations of diseases caused by bioterrorist agents could be a potential data source for biosurveillance. This study had the objectives of determining the oral manifestations of diseases caused by bioterrorist agents, measuring the prevalence of these manifestations in emergency department reports, and constructing and evaluating a detection algorithm based on them. We developed a software application to detect oral manifestations in free text and identified positive reports over three years of data. The normal frequency in reports for oral manifestations related to anthrax (including buc-cal ulcers-sore throat) was 7.46%. The frequency for tularemia was 6.91%. For botulism and smallpox, the frequencies were 0.55% and 0.23%. We simulated outbreaks for these bioterrorism diseases and evaluated the performance of our system. The detection algorithm performed better for smallpox and botulism than for anthrax and tularemia. We found that oral manifestations can be a valuable tool for biosur-veillance. PMID:19131324

  6. Applying a presentation content manifest for signing clinical documents.

    PubMed

    Lien, Chung-Yueh; Hsiao, Chia-Hung; Huang, Lu-Chou; Kao, Tsair

    2010-04-01

    In this paper, we demonstrate how to digitally sign a content manifest of a presentable clinical document that contains multiple clinical data with presentations. Only one signature is needed for an entire clinical document with multiple data resources, which can reduce the computation time during signing and verifying processes. In the radiology field, a report may contain text descriptions, images, and annotations that are stored separately in different data resources. The manifest signature would be a proper means for integrity checking for all the clinical data within the manifest. The manifest signature can be extended with a trusted third party to add a digital time signature for long-term verifiability. The performance of the manifest signing compared with that of a traditional digital signing was evaluated. The new manifest signature can be used for signing different types of presentable clinical documents, such HL7 CDA documents and DICOM image reports. PMID:19290579

  7. Neurological manifestations of dengue infection: a review.

    PubMed

    Verma, Rajesh; Sahu, Ritesh; Holla, Vikram

    2014-11-15

    Dengue is a common arboviral infection in tropical and sub-tropical areas of the world transmitted by Aedes mosquitoes and caused by infection with one of the 4 serotypes of dengue virus. Neurologic manifestations are increasingly recognised but the exact incidence is unknown. Dengue infection has a wide spectrum of neurological complications such as encephalitis, myositis, myelitis, Guillain-Barr syndrome (GBS) and mononeuropathies. Encephalopathy is the most common reported complication. In endemic regions, dengue infection should be considered as one of the aetiologies of encephalitis. Even for other neurological syndromes like myelitis, myositis, GBS etc., dengue infection should be kept in differential diagnosis and should be ruled out especially so in endemic countries during dengue outbreaks and in cases where the aetiology is uncertain. A high degree of suspicion in endemic areas can help in picking up more cases thereby helping in understanding the true extent of neurological complications in dengue fever. Also knowledge regarding the various neurological complications helps in looking for the warning signs and early diagnosis thereby improving patient outcome. PMID:25220113

  8. Hematological manifestations and complications of Gaucher disease.

    PubMed

    Linari, Silvia; Castaman, Giancarlo

    2016-01-01

    Gaucher disease is a multisystemic metabolic disorder due to a genetic deficiency of the lysosomal enzyme glucocerebrosidase, which leads to the accumulation within the lysosomes of macrophages of its natural substrate, glucosylceramide and its deacylated product glucosylsphingosine. The most prevalent form of the disease is the so-called non-neuronopathic form (type 1) characterized by anemia, thrombocytopenia, enlargement of liver and/or spleen, skeletal abnormalities. Etiology of anemia and thrombocytopenia may be multifactorial and not necessarily predicted by the degree of splenomegaly. Bleeding diathesis may not always be related to absolute platelet count but may be influenced by abnormal platelet function or coagulation factor deficiencies. A significant increased risk of severe hematological co-morbidities, including multiple myeloma and B-cell lymphoma, has been reported. Accumulation of glucosylceramide and glucosylsphingosyne in macrophages and the resulting chronic inflammation with the secretion of cytokines leading to polyclonal and monoclonal B cell proliferation up to multiple myeloma, as a continuum clonal expansion, is a key pathophysiological mechanism. Enzyme replacement therapy has been shown to be effective in reducing glucosylceramide storage burden and the deleterious effects caused by its accumulation, including hematological manifestations. PMID:26565753

  9. Oral manifestations in HIV+ children in Mozambique.

    PubMed

    Sales-Peres, Slvia Helena de Carvalho; Mapengo, Marta Artemisa Abel; de Moura-Grec, Patrcia Garcia; Marsicano, Juliane Avansine; Sales-Peres, Andr de Carvalho; Sales-Peres, Arsenio

    2012-01-01

    The scope of this study was to identify the prevalence of oral manifestations in HIV+/AIDS patients at the DIA Pediatric Hospital of Maputo. All 90 patients were included in the research. Data on dental caries (dmft/DMFT index), soft tissues and saliva flow were analyzed. Information on diet and hygienic habits was obtained in a semi-structured questionnaire. The t- student and chi-square tests were used for statistical assessment. The most frequent oral lesion was candidiasis (5.5%) and upon further oral examination the prevalence of parotid enlargement was 23.0%. The mean dmft 2.6 (SD 3.6) was considerably higher in relation to DMFT of 0.6 (SD 1.6), and the differences between them were statistically significant (P<0.05). The occurrence of mucosal lesions was higher in children who did not take antiretroviral therapy (ART) (p = 0.026). The use of ART is associated with reduced prevalence of oral lesions in HIV+ patients; however, rampant caries were highest in this group. Primary dentition of HIV+ patients should be considered high risk for caries. PMID:22218539

  10. Ophthalmic manifestation of congenital protein C deficiency.

    PubMed

    Hattenbach, L O; Beeg, T; Kreuz, W; Zubcov, A

    1999-06-01

    Under normal conditions activated protein C is a natural anticoagulant that cleaves 2 activated coagulation factors, factor Va and factor VIIIa, thereby inhibiting the conversion of factor X to factor Xa and of prothrombin to thrombin. Additionally, activated protein C enhances tissue-plasminogen activator-mediated fibrinolysis by inhibition of plasminogen activator inhibitor-1. This results in an increase in circulatory plasminogen activator levels. Protein C deficiency, a genetic or acquired thrombophilic abnormality, has been demonstrated to predispose to episodes of potentially blinding and lethal thromboembolic events. Heterozygous-deficient subjects usually remain asymptomatic until adolescence or adulthood. In homozygous-deficient patients, protein C activity is usually less than 1% (reference range, 70%-140%), resulting in thromboembolism as early as in the neonatal period. The major clinical symptoms in affected newborn infants have been purpura fulminans, vitreous hemorrhage, and central nervous system thrombosis. The age of onset of the first symptoms has ranged from a few hours to 2 weeks after birth, usually after an uncomplicated full-term pregnancy and delivery. In contrast to the genetic form, acquired neonatal protein C deficiency occurs particularly in ill preterm babies. Typical complications of prematurity such as respiratory distress syndrome, necrotizing enterocolitis, and neonatal sepsis may also be present. In the medical literature, there are only a few reports of homozygous protein C deficiency in neonates. We present 2 cases of homozygous protein C deficiency with ocular and extraocular manifestation. PMID:10428594

  11. Extraintestinal Manifestations of Inflammatory Bowel Disease.

    PubMed

    Vavricka, Stephan R; Schoepfer, Alain; Scharl, Michael; Lakatos, Peter L; Navarini, Alexander; Rogler, Gerhard

    2015-08-01

    Extraintestinal manifestations (EIM) in inflammatory bowel disease (IBD) are frequent and may occur before or after IBD diagnosis. EIM may impact the quality of life for patients with IBD significantly requiring specific treatment depending on the affected organ(s). They most frequently affect joints, skin, or eyes, but can also less frequently involve other organs such as liver, lungs, or pancreas. Certain EIM, such as peripheral arthritis, oral aphthous ulcers, episcleritis, or erythema nodosum, are frequently associated with active intestinal inflammation and usually improve by treatment of the intestinal activity. Other EIM, such as uveitis or ankylosing spondylitis, usually occur independent of intestinal inflammatory activity. For other not so rare EIM, such as pyoderma gangrenosum and primary sclerosing cholangitis, the association with the activity of the underlying IBD is unclear. Successful therapy of EIM is essential for improving quality of life of patients with IBD. Besides other options, tumor necrosis factor antibody therapy is an important therapy for EIM in patients with IBD. PMID:26154136

  12. Neuro-ophthalmic manifestations of prematurity.

    PubMed

    Chhablani, Preeti Patil; Kekunnaya, Ramesh

    2014-10-01

    Increasing rates of preterm births coupled with better survival of these infants have resulted in higher prevalence of systemic and ocular complications associated with prematurity. In addition to retinopathy of prematurity, infants who are born preterm may suffer from severe visual impairment as a result of hypoxic ischemic encephalopathy, hypoglycemia, and other metabolic imbalances. The effect of these processes on the anterior visual pathway may result in optic atrophy, optic nerve hypoplasia or optic disc cupping and affection of the posterior visual pathway leads to cortical visual impairment (CVI). Other ocular associations include strabismus, nystagmus, and ocular motor abnormalities such as tonic down gaze and defective saccades and pursuits. Cortical and subcortical involvement also manifests as defects in functional vision and these have not yet been completely understood. Children with CVI may have visual field defects, photophobia, defective visual processing, and deficient color vision. Since most of these children also suffer from additional systemic disabilities, evaluation, and management remains a challenge. However, early diagnosis and initiation of rehabilitation therapy can prove to be of significant benefit in these children. PMID:25449932

  13. Hypersensitivity manifestations to the fruit mango

    PubMed Central

    Sareen, Richa

    2011-01-01

    The objectives of this study are 1) To review the published data and document the current knowledge on allergic manifestations to the fruit mango 2) To highlight the two distinct clinical presentations of hypersensitivity reactions caused by mango 3) To discuss the role of cross-reactivity 4) To increase awareness of potentially life threatening complications that can be caused by allergy to mango. An extensive search of the literature was performed in Medline/PubMed with the key terms "mango", "anaphylaxis", "contact dermatitis", "cross-reactivity", "food hypersensitivity", "oral allergy syndrome" and "urticaria". The bibliographies of all papers thus located were searched for further relevant articles. A total of 17 reports describing 22 patients were documented, including ten patients with immediate hypersensitivity reaction and twelve patients with delayed hypersensitivity reaction to mango. Ten of these patients (four with immediate reaction; six with delayed reaction) were from geographical areas cultivating mango, whereas twelve patients (six with immediate reaction; six with delayed reaction) were from the countries where large scale mango cultivation does not occur. The clinical features, pathogenesis and diagnostic modalities of both these presentations are highlighted. The fruit mango can cause immediate and delayed hypersensitivity reactions, as also "oral allergy syndrome". Although rare, it can even result in a life threatening event. Reactions may even occur in individuals without prior exposure to mango, owing to cross reactivity. It is imperative to recognize such a phenomenon early so as to avoid potentially severe clinical reactions in susceptible patients. PMID:22053296

  14. On the surface manifestations of ship wakes.

    NASA Astrophysics Data System (ADS)

    Kapustin, Ivan; Ermakov, Stanislav; Lazareva, Tatyana

    2010-05-01

    During the field experiments on the Black Sea and on the Gorky Reservoir for the last 4 years the widening of the turbulent region generated by surface ships and the surface manifestations of the ship wakes has been studied. Measurements of currents in ship wakes have been made using ADCP (Acoustic Doppler Current Profiler) deployed from a motor boat. It was obtained that the time dependence of the wake width could be described approximately by a 0.4-power function, and the depth of wake remained constant at its initial stage, the latter allowed one to consider the wake widening as a one-dimensional process. We have developed a simple one-dimensional model of ship wake evolution using the semi-empirical theory of turbulence, and the initial stage of the wake widening (when neglecting dissipation) was described by the equation of turbulent energy balance with the pulse initial condition. We also observed in experiment mean circulating currents in the wake region resulting in the wind wave intensification on the boundaries of the wake region. It was shown that the later stage of the wake evolution is characterized by the presence of slicks bands on the edges of the wake. The slick bands formation is a result of the surfactants transport due to air bubbles in the turbulent wake and their compression by the mean currents. The work was supported by RFBR (projects 08-05-00634, 08-05-97011), the Program RAN Radiophysics, and the IPY THORPEX Project.

  15. Extraintestinal Manifestations of Inflammatory Bowel Disease

    PubMed Central

    Schoepfer, Alain; Scharl, Michael; Lakatos, Peter L.; Navarini, Alexander; Rogler, Gerhard

    2015-01-01

    Abstract: Extraintestinal manifestations (EIM) in inflammatory bowel disease (IBD) are frequent and may occur before or after IBD diagnosis. EIM may impact the quality of life for patients with IBD significantly requiring specific treatment depending on the affected organ(s). They most frequently affect joints, skin, or eyes, but can also less frequently involve other organs such as liver, lungs, or pancreas. Certain EIM, such as peripheral arthritis, oral aphthous ulcers, episcleritis, or erythema nodosum, are frequently associated with active intestinal inflammation and usually improve by treatment of the intestinal activity. Other EIM, such as uveitis or ankylosing spondylitis, usually occur independent of intestinal inflammatory activity. For other not so rare EIM, such as pyoderma gangrenosum and primary sclerosing cholangitis, the association with the activity of the underlying IBD is unclear. Successful therapy of EIM is essential for improving quality of life of patients with IBD. Besides other options, tumor necrosis factor antibody therapy is an important therapy for EIM in patients with IBD. PMID:26154136

  16. Oral mucosal manifestations of autoimmune skin diseases.

    PubMed

    Mustafa, Mayson B; Porter, Stephen R; Smoller, Bruce R; Sitaru, Cassian

    2015-10-01

    A group of autoimmune diseases is characterised by autoantibodies against epithelial adhesion structures and/or tissue-tropic lymphocytes driving inflammatory processes resulting in specific pathology at the mucosal surfaces and the skin. The most frequent site of mucosal involvement in autoimmune diseases is the oral cavity. Broadly, these diseases include conditions affecting the cell-cell adhesion causing intra-epithelial blistering and those where autoantibodies or infiltration lymphocytes cause a loss of cell-matrix adhesion or interface inflammation. Clinically, patients present with blistering, erosions and ulcers that may affect the skin as well as further mucosal surfaces of the eyes, nose and genitalia. While the autoimmune disease may be suspected based on clinical manifestations, demonstration of tissue-bound and circulating autoantibodies, or lymphocytic infiltrates, by various methods including histological examination, direct and indirect immunofluorescence microscopy, immunoblotting and quantitative immunoassay is a prerequisite for definitive diagnosis. Given the frequency of oral involvement and the fact that oral mucosa is the initially affected site in many cases, the informed practitioner should be well acquainted with diagnostic and therapeutic aspects of autoimmune dermatosis with oral involvement. This paper reviews the pathogenesis and clinical presentation of these conditions in the oral cavity with a specific emphasis on their differential diagnosis and current management approaches. PMID:26117595

  17. Sickle cell disease: renal manifestations and mechanisms.

    PubMed

    Nath, Karl A; Hebbel, Robert P

    2015-03-01

    Sickle cell disease (SCD) substantially alters renal structure and function, and causes various renal syndromes and diseases. Such diverse renal outcomes reflect the uniquely complex vascular pathobiology of SCD and the propensity of red blood cells to sickle in the renal medulla because of its hypoxic, acidotic, and hyperosmolar conditions. Renal complications and involvement in sickle cell nephropathy (SCN) include altered haemodynamics, hypertrophy, assorted glomerulopathies, chronic kidney disease, acute kidney injury, impaired urinary concentrating ability, distal nephron dysfunction, haematuria, and increased risks of urinary tract infections and renal medullary carcinoma. SCN largely reflects an underlying vasculopathy characterized by cortical hyperperfusion, medullary hypoperfusion, and an increased, stress-induced vasoconstrictive response. Renal involvement is usually more severe in homozygous disease (sickle cell anaemia, HbSS) than in compound heterozygous types of SCD (for example HbSC and HbSβ(+)-thalassaemia), and is typically mild, albeit prevalent, in the heterozygous state (sickle cell trait, HbAS). Renal involvement contributes substantially to the diminished life expectancy of patients with SCD, accounting for 16-18% of mortality. As improved clinical care promotes survival into adulthood, SCN imposes a growing burden on both individual health and health system costs. This Review addresses the renal manifestations of SCD and focuses on their underlying mechanisms. PMID:25668001

  18. Neuro-ophthalmic manifestations of prematurity

    PubMed Central

    Chhablani, Preeti Patil; Kekunnaya, Ramesh

    2014-01-01

    Increasing rates of preterm births coupled with better survival of these infants have resulted in higher prevalence of systemic and ocular complications associated with prematurity. In addition to retinopathy of prematurity, infants who are born preterm may suffer from severe visual impairment as a result of hypoxic ischemic encephalopathy, hypoglycemia, and other metabolic imbalances. The effect of these processes on the anterior visual pathway may result in optic atrophy, optic nerve hypoplasia or optic disc cupping and affection of the posterior visual pathway leads to cortical visual impairment (CVI). Other ocular associations include strabismus, nystagmus, and ocular motor abnormalities such as tonic down gaze and defective saccades and pursuits. Cortical and subcortical involvement also manifests as defects in functional vision and these have not yet been completely understood. Children with CVI may have visual field defects, photophobia, defective visual processing, and deficient color vision. Since most of these children also suffer from additional systemic disabilities, evaluation, and management remains a challenge. However, early diagnosis and initiation of rehabilitation therapy can prove to be of significant benefit in these children. PMID:25449932

  19. Radiation nephritis. Clinical manifestations and pathophysiologic mechanisms

    SciTech Connect

    Krochak, R.J.; Baker, D.G.

    1986-05-01

    Radiation nephritis is both volume and dose related. Clinical experience would indicate that a minimum of one third of the renal volume needs to be excluded from nephrotoxic doses which appears to have a threshold of 2,000 cGy. The site of damage leading to renal failure appears to be the microvasculature ultimately expressed as glomerulosclerosis. How much direct damage to the tubular system contributes to this process is unclear, but undoubtedly the resultant systemic physiologic effects potentiate the expression of damage in the irradiated kidney. The acute syndrome, with all the potential manifestations of renal failure, rarely presents sooner than six months and appears to have no clear prodrome, although it would seem reasonable that a subclinical syndrome consisting of abnormalities detectable by urinalysis may occur. Treatment of radiation-induced nephritis or hypertension is no different from treatment for nephritis from any other cause and should be aggressive with lifelong follow-up. Carcinogenesis is a rare late expression of radiation-induced kidney damage. 25 references.

  20. Cerebral malaria - clinical manifestations and pathogenesis.

    PubMed

    Hora, Rachna; Kapoor, Payal; Thind, Kirandeep Kaur; Mishra, Prakash Chandra

    2016-04-01

    One of the most common central nervous system diseases in tropical countries is cerebral malaria (CM). Malaria is a common protozoan infection that is responsible for enormous worldwide mortality and economic burden on the society. Episodes of Plasmodium falciparum (Pf) caused CM may be lethal, while survivors are likely to suffer from persistent debilitating neurological deficits, especially common in children. In this review article, we have summarized the various symptoms and manifestations of CM in children and adults, and entailed the molecular basis of the disease. We have also emphasized how pathogenesis of the disease is effected by the parasite and host responses including blood brain barrier (BBB) disruption, endothelial cell activation and apoptosis, nitric oxide bioavailability, platelet activation and apoptosis, and neuroinflammation. Based on a few recent studies carried out in experimental mouse malaria models, we propose a basis for the neurological deficits and sequelae observed in human cerebral malaria, and summarize how existing drugs may improve prognosis in affected individuals. PMID:26746434

  1. Clinical manifestations and management of Gaucher disease

    PubMed Central

    Linari, Silvia; Castaman, Giancarlo

    2015-01-01

    Summary Gaucher disease is a rare multi-systemic metabolic disorder caused by the inherited deficiency of the lysosomal enzyme β-glucocerebrosidase, which leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages with damage to haematological, visceral and bone systems. Anaemia, thrombocytopenia, enlargement of liver and/or spleen, skeletal abnormalities (osteopenia, lytic lesions, pathological fractures, chronic bone pain, bone crisis, bone infarcts, osteonecrosis and skeletal deformities) are typical manifestations of the most prevalent form of the disease, the so-called non-neuronopathic type 1. However, severity and coexistence of different symptoms are highly variable. The determination of deficient β-glucocerebrosidase activity in leukocytes or fibroblasts by enzymatic assay is the gold standard for the diagnosis of Gaucher disease. Comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects are fundamental for the effective management of Gaucher disease patients. Enzyme replacement therapy has been shown to be effective in reducing glucocerebroside storage burden and diminishing the deleterious effects caused by its accumulation. Tailored treatment plan for each patient should be directed to symptom relief, general improvement of quality of life, and prevention of irreversible damage. PMID:26604942

  2. Roger's pattern manifestations and health in adolescents.

    PubMed

    Yarcheski, A; Mahon, N E

    1995-08-01

    The purpose of this exploratory study was to examine four manifestations of human-environmental field patterning--human field motion, human field rhythms, creativity, and sentience--in relation to perceived health status in 106 early, 111 middle, and 113 late adolescents. Participants responded to the Perceived Field Motion Instrument (a measure of human field motion), the Human Field Rhythms Scale, the Sentience Scale, the General Health Rating Index (a measure of perceived health status), and a brief demographic data sheet in classroom settings. Data were analyzed using Pearson correlations. Statistically significant positive correlations were found between perceived field motion and perceived health status in early, middle, and late adolescents, between human field rhythms and perceived health status in late adolescents only, and between creativity and perceived health status in late adolescents only. The inverse relationship found between sentience and perceived health status in early, middle, and late adolescents was not statistically significant. The findings are interpreted within a Rogerian framework. PMID:7660661

  3. [Clinical manifestations caused by group A streptococci].

    PubMed

    Brandtzaeg, P; Gaustad, P; Vanberg, P J; Medb, S; Ledaal, P; Reigstad, H

    1990-08-30

    We describe the symptomatology of different disease entities caused by group A beta-hemolytic streptococci (Streptococcus pyogenes, GAS). The case histories of four patients, two of whom died, emphasize the severity of certain clinical manifestations of GAS-infections. A 34 year-old woman was admitted to hospital four days after start of the symptoms. She presented a clinical picture very similar to that observed in fulminant meningococcal septicaemia; i.e. extensive skin haemorrhages, circulatory collapse, and multiple organ failure. She died within 12 hours of admission. GAS were isolated in blood culture. A seven day-old girl died before admission to hospital. GAS were isolated in blood cultures, cerebrospinal fluid and from her nose and throat. An eight year-old, psychomotoric retarded girl developed a severe left-sided pneumonia, empyema and scarlatina. GAS were detected in throat culture. She responded poorly to high doses of benzylpenicillin given intravenously. She recovered rapidly after thoracotomy and decortication of her left lung. Finally, we describe the case of an 11 year-old boy with rheumatic fever without cardiac involvement. The reported cases underline the need for careful diagnosis and penicillin treatment in cases of GAS-infections. PMID:2219027

  4. Sickle cell disease: renal manifestations and mechanisms

    PubMed Central

    Nath, Karl A.; Hebbel, Robert P.

    2015-01-01

    Sickle cell disease (SCD) substantially alters renal structure and function, and causes various renal syndromes and diseases. Such diverse renal outcomes reflect the uniquely complex vascular pathobiology of SCD and the propensity of red blood cells to sickle in the renal medulla because of its hypoxic, acidotic, and hyperosmolar conditions. Renal complications and involvement in sickle cell nephropathy (SCN) include altered haemodynamics, hypertrophy, assorted glomerulopathies, chronic kidney disease, acute kidney injury, impaired urinary concentrating ability, distal nephron dysfunction, haematuria, and increased risks of urinary tract infections and renal medullary carcinoma. SCN largely reflects an underlying vasculopathy characterized by cortical hyperperfusion, medullary hypoperfusion, and an increased, stress-induced vasoconstrictive response. Renal involvement is usually more severe in homozygous disease (sickle cell anaemia, HbSS) than in compound heterozygous types of SCD (for example HbSC and HbSβ+-thalassaemia), and is typically mild, albeit prevalent, in the heterozygous state (sickle cell trait, HbAS). Renal involvement contributes substantially to the diminished life expectancy of patients with SCD, accounting for 16–18% of mortality. As improved clinical care promotes survival into adulthood, SCN imposes a growing burden on both individual health and health system costs. This Review addresses the renal manifestations of SCD and focuses on their underlying mechanisms. PMID:25668001

  5. Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations

    PubMed Central

    De Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela

    2013-01-01

    The objectives of this review are to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary periodic fever syndromes, familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) 6. very rare conditions presenting with autoinflammation and immunodeficiency. PMID:23711932

  6. Neurologic Manifestations of Chronic Methamphetamine Abuse

    PubMed Central

    Rusyniak, Daniel E.

    2013-01-01

    COMMENTARY ON METHAMPHETAMINE ABUSE FOR PSYCHIATRIC PRACTICE Every decade seems to have its own unique drug problem. The 1970s had hallucinogens, the 1980s had crack cocaine, the 1990s had designer drugs, the 2000s had methamphetamine (Meth), and in the 2010s we are dealing with the scourge of prescription drug abuse. While each of these drug epidemics has distinctive problems and history, the one with perhaps the greatest impact on the practice of Psychiatry is Meth. By increasing the extracellular concentrations of dopamine while slowly damaging the dopaminergic neurotransmission, Meth is a powerfully addictive drug whose chronic use preferentially causes psychiatric complications. Chronic Meth users have deficits in memory and executive functioning as well as higher rates of anxiety, depression, and most notably psychosis. It is because of addiction and chronic psychosis from Meth abuse that the Meth user is most likely to come to the attention of the practicing Psychiatrist/Psychologist. Understanding the chronic neurologic manifestations of Meth abuse will better arm practitioners with the diagnostic and therapeutic tools needed to make the Meth epidemic one of historical interest only. PMID:23688691

  7. Oral manifestations of hepatitis C virus infection

    PubMed Central

    Carrozzo, Marco; Scally, Kara

    2014-01-01

    Extrahepatic manifestations (EHMs) of hepatitis C virus (HCV) infection can affect a variety of organ systems with significant morbidity and mortality. Some of the most frequently reported EHM of HCV infection, involve the oral region predominantly or exclusively. Oral lichen planus (OLP) is a chronic inflammatory condition that is potentially malignant and represents cell-mediated reaction to a variety of extrinsic antigens, altered self-antigens, or super antigens. Robust epidemiological evidence support the link between OLP and HCV. As the virus may replicate in the oral mucosa and attract HCV-specific T lymphocytes, HCV may be implicated in OLP pathogenesis. Sjögren syndrome (SjS) is an autoimmune exocrinopathy, characterized by dryness of the mouth and eyes and a multitude of other systemic signs and symptoms. SjS patients have also an increased risk of non-Hodgkin lymphoma. Patients with chronic hepatitis C do frequently have histological signs of Sjögren-like sialadenitis with mild or even absent clinical symptoms. However, it is still unclear if HCV may cause a disease mimicking SjS or it is directly responsible for the development of SjS in a specific subset of patients. Oral squamous cell carcinoma is the most common oral malignant tumour and at least in some part of the world could be linked to HCV. PMID:24976694

  8. Neuromuscular manifestations of west nile virus infection.

    PubMed

    Leis, A Arturo; Stokic, Dobrivoje S

    2012-01-01

    The most common neuromuscular manifestation of West Nile virus (WNV) infection is a poliomyelitis syndrome with asymmetric paralysis variably involving one (monoparesis) to four limbs (quadriparesis), with or without brainstem involvement and respiratory failure. This syndrome of acute flaccid paralysis may occur without overt fever or meningoencephalitis. Although involvement of anterior horn cells in the spinal cord and motor neurons in the brainstem are the major sites of pathology responsible for neuromuscular signs, inflammation also may involve skeletal or cardiac muscle (myositis, myocarditis), motor axons (polyradiculitis), and peripheral nerves [Guillain-Barr syndrome (GBS), brachial plexopathy]. In addition, involvement of spinal sympathetic neurons and ganglia provides an explanation for autonomic instability seen in some patients. Many patients also experience prolonged subjective generalized weakness and disabling fatigue. Despite recent evidence that WNV may persist long-term in the central nervous system or periphery in animals, the evidence in humans is controversial. WNV persistence would be of great concern in immunosuppressed patients or in those with prolonged or recurrent symptoms. Support for the contention that WNV can lead to autoimmune disease arises from reports of patients presenting with various neuromuscular diseases that presumably involve autoimmune mechanisms (GBS, other demyelinating neuropathies, myasthenia gravis, brachial plexopathies, stiff-person syndrome, and delayed or recurrent symptoms). Although there is no specific treatment or vaccine currently approved in humans, and the standard remains supportive care, drugs that can alter the cascade of immunobiochemical events leading to neuronal death may be potentially useful (high-dose corticosteroids, interferon preparations, and intravenous immune globulin containing WNV-specific antibodies). Human experience with these agents seems promising based on anecdotal reports. PMID:22461779

  9. Macrocytosis and pseudoalbinism: manifestations of selenium deficiency.

    PubMed

    Vinton, N E; Dahlstrom, K A; Strobel, C T; Ament, M E

    1987-11-01

    Selenium levels were low in four children receiving long-term total parenteral nutrition (TPN) who developed erythrocyte macrocytosis (3/4), loss of pigmentation of hair and skin (2/4), elevated transaminase and creatine kinase activities (2/4), and profound muscle weakness (1/4). Initial mean selenium levels in serum and hair were 38 +/- 11 (SEM) ng/mL and 0.34 +/- 0.13 micrograms/g, respectively. Mean serum vitamin B12, folate, and vitamin E levels were normal. Intravenous supplementation with selenium was begun daily at 2 micrograms/kg/day. After 3 to 6 months, serum selenium levels rose almost threefold to 81 +/- 22 ng/mL. During this same time, erythrocyte mean corpuscular volume fell from 115 +/- 8 fL to 88 +/- 7 fL in the three children with macrocytosis. After 6 to 12 months of supplementation, hair selenium content had increased threefold to 1.02 +/- 0.19 micrograms/g. The two children with decreased pigmentation became darker skinned and their hair color changed from blonde to dark brown; a third child's hair, which had been blonde, also became darker. Transaminase and creatine kinase activities returned to near normal in those affected and, in the one child with severe myopathy, muscle weakness improved. Erythrocyte macrocytosis and loss of skin and hair pigmentation are previously undescribed manifestations of selenium deficiency. We recommend routine supplementation of TPN solution with selenium to avoid the clinical and biochemical syndrome of selenium deficiency in patients receiving long-term TPN. PMID:3117996

  10. A Review of the Latent and Manifest Benefits (LAMB) Scale

    ERIC Educational Resources Information Center

    Muller, Juanita; Waters, Lea

    2012-01-01

    The latent and manifest benefits (LAMB) scale (Muller, Creed, Waters & Machin, 2005) was designed to measure the latent and manifest benefits of employment and provide a single scale to test Jahoda's (1981) and Fryer's (1986) theories of unemployment. Since its publication in 2005 there have been 13 studies that have used the scale with 5692

  11. 19 CFR 122.48 - Air cargo manifest.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... Duties U.S. CUSTOMS AND BORDER PROTECTION, DEPARTMENT OF HOMELAND SECURITY; DEPARTMENT OF THE TREASURY AIR COMMERCE REGULATIONS Aircraft Entry and Entry Documents; Electronic Manifest Requirements for... manifest, Customs Form 7509, must contain all required information regarding all cargo on board...

  12. Manifest Anxiety as a Contributing Factor in Religious Conversion

    ERIC Educational Resources Information Center

    Spellman, Charles; And Others

    1971-01-01

    Results of the study indicated that gradual religious development group and the nonreligious group did not differ significantly from each other on manifest anxiety, but the religious conversion group obtained significantly higher scores on the Taylor Manifest Anxiety Scale than the other two groups combined. (Author)

  13. 46 CFR 148.02-3 - Dangerous cargo manifest.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 5 2010-10-01 2010-10-01 false Dangerous cargo manifest. 148.02-3 Section 148.02-3 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY (CONTINUED) DANGEROUS CARGOES CARRIAGE OF SOLID HAZARDOUS MATERIALS IN BULK Vessel Requirements § 148.02-3 Dangerous cargo manifest. (a) Each vessel, except for unmanned barges, transporting...

  14. 40 CFR 263.20 - The manifest system.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... without a tracking document that includes all information required by 40 CFR 262.84. (3) Compliance Date... hazardous waste without a tracking document that includes all information required by 40 CFR 262.84. (3... system, shall include (if not pre-printed on the replacement manifest) the manifest tracking number...

  15. 76 FR 36363 - Hazardous Waste Manifest Printing Specifications Correction Rule

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-22

    ... standardized manifest form during the promulgation of the March 4, 2005 Manifest Form Revisions Rule (70 FR... Executive Order 12866 (58 FR 51735, October 4, 1993), the Agency must determine whether the regulatory... and is therefore not subject to review under Executive Orders 12866 and 13563 (76 FR 3821, January...

  16. 19 CFR 122.74 - Incomplete (pro forma) manifest.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 1 2010-04-01 2010-04-01 false Incomplete (pro forma) manifest. 122.74 Section 122.74 Customs Duties U.S. CUSTOMS AND BORDER PROTECTION, DEPARTMENT OF HOMELAND SECURITY; DEPARTMENT... Aircraft Departing From the United States 122.74 Incomplete (pro forma) manifest. (a)...

  17. 19 CFR 123.22 - In-transit manifest.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... CBP RELATIONS WITH CANADA AND MEXICO Shipments in Transit Through Canada or Mexico 123.22 In-transit... transported under Customs red in-bond seals and is accompanied by a transportation in-bond manifest, a... cars or other overland carriers transiting Mexico a manifest on Customs Form 7512-B or 7533-C shall...

  18. A Review of the Latent and Manifest Benefits (LAMB) Scale

    ERIC Educational Resources Information Center

    Muller, Juanita; Waters, Lea

    2012-01-01

    The latent and manifest benefits (LAMB) scale (Muller, Creed, Waters & Machin, 2005) was designed to measure the latent and manifest benefits of employment and provide a single scale to test Jahoda's (1981) and Fryer's (1986) theories of unemployment. Since its publication in 2005 there have been 13 studies that have used the scale with 5692…

  19. 19 CFR 18.2 - Receipt by carrier; manifest.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 1 2011-04-01 2011-04-01 false Receipt by carrier; manifest. 18.2 Section 18.2... TREASURY TRANSPORTATION IN BOND AND MERCHANDISE IN TRANSIT General Provisions 18.2 Receipt by carrier; manifest. (a)(1) Merchandise other than from warehouse or foreign trade zone delivered to bonded...

  20. ENT manifestations of gastro-oesophageal reflux in children

    PubMed Central

    Caruso, G; Passali, FM

    2006-01-01

    Summary Gastro-oesophageal reflux is common in children and is associated with morbidity rates that justify increasing interest in early diagnosis and appropriate medical or surgical treatment. In children ENT manifestations of gastro-oesophageal reflux mainly affect the larynx, ears, nose, paranasal sinuses and oral cavity. Main manifestations are laryngo-tracheal stenosis, laryngomalacia, otitis media with effusion, rhinosinusitis. PMID:17345927

  1. 40 CFR 761.209 - Retention of manifest records.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... Section 761.209 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.209 Retention of manifest records. (a) A generator of PCB waste shall keep a copy of each manifest signed in accordance with § 761.208(a)(1) until...

  2. 40 CFR 761.209 - Retention of manifest records.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... Section 761.209 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.209 Retention of manifest records. (a) A generator of PCB waste shall keep a copy of each manifest signed in accordance with § 761.208(a)(1) until...

  3. Clinical Manifestations Associated with Neurocysticercosis: A Systematic Review

    PubMed Central

    Carabin, Hlne; Ndimubanzi, Patrick Cyaga; Budke, Christine M.; Nguyen, Hai; Qian, Yingjun; Cowan, Linda Demetry; Stoner, Julie Ann; Rainwater, Elizabeth; Dickey, Mary

    2011-01-01

    Background The clinical manifestations of neurocysticercosis (NCC) are poorly understood. This systematic review aims to estimate the frequencies of different manifestations, complications and disabilities associated with NCC. Methods A systematic search of the literature published from January 1, 1990, to June 1, 2008, in 24 different electronic databases and 8 languages was conducted. Meta-analyses were conducted when appropriate. Results A total of 1569 documents were identified, and 21 included in the analysis. Among patients seen in neurology clinics, seizures/epilepsy were the most common manifestations (78.8%, 95%CI: 65.1%89.7%) followed by headaches (37.9%, 95%CI: 23.3%53.7%), focal deficits (16.0%, 95%CI: 9.7%23.6%) and signs of increased intracranial pressure (11.7%, 95%CI: 6.0%18.9%). All other manifestations occurred in less than 10% of symptomatic NCC patients. Only four studies reported on the mortality rate of NCC. Conclusions NCC is a pleomorphic disease linked to a range of manifestations. Although definitions of manifestations were very rarely provided, and varied from study to study, the proportion of NCC cases with seizures/epilepsy and the proportion of headaches were consistent across studies. These estimates are only applicable to patients who are ill enough to seek care in neurology clinics and likely over estimate the frequency of manifestations among all NCC cases. PMID:21629722

  4. Extrahepatic manifestations of infection with hepatitis C virus.

    PubMed

    Mehta, S; Levey, J M; Bonkovsky, H L

    2001-11-01

    Chronic hepatitis C is associated with, and may trigger or exacerbate, an extraordinary variety of extrahepatic manifestations. Most of these manifestations affect the skin, the most frequent and important of which are the leukocytoclastic vasculitis of MC type II and PCT. The former is an example of an autoimmune disorder triggered by HCV infection, whereas PCT is a skin disease caused by hepatic overproduction of uro- and 7-carboxyl porphyrins caused by increased oxidative stress in hepatocytes. Currently available effective therapies of CHC (IFN, ribavirin) may also trigger or exacerbate extrahepatic manifestations, especially including autoimmune thyroiditis, skin rashes, and hemolytic anemia. PMID:11685805

  5. Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe.

    PubMed

    Allmendinger, Andrew Mark; Desai, Naman S; Burke, Alanna Teatom; Viswanadhan, Narayan; Prabhu, Sanjay

    2014-10-01

    Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications developing in the first few months of life. Clinical and laboratory findings of Lowe syndrome are well documented. Though a small number of case reports describe the neuroimaging features and the renal ultrasound manifestations of this disease, a comprehensive review of all the imaging manifestations has not been reported. The authors present a case of OCRL and review the neuroimaging and renal ultrasound manifestations of this multisystem disease. PMID:25426219

  6. Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe

    PubMed Central

    Allmendinger, Andrew Mark; Desai, Naman S.; Burke, Alanna Teatom; Viswanadhan, Narayan; Prabhu, Sanjay

    2014-01-01

    Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications developing in the first few months of life. Clinical and laboratory findings of Lowe syndrome are well documented. Though a small number of case reports describe the neuroimaging features and the renal ultrasound manifestations of this disease, a comprehensive review of all the imaging manifestations has not been reported. The authors present a case of OCRL and review the neuroimaging and renal ultrasound manifestations of this multisystem disease. PMID:25426219

  7. Hepatic manifestations of non-steroidal inflammatory bowel disease therapy

    PubMed Central

    Hirten, Robert; Sultan, Keith; Thomas, Ashby; Bernstein, David E

    2015-01-01

    Inflammatory bowel disease (IBD) is composed of Crohn’s disease and ulcerative colitis and is manifested by both bowel-related and extraintestinal manifestations. Recently the number of therapeutic options available to treat IBD has dramatically increased, with each new medication having its own mechanism of action and side effect profile. A complete understanding of the hepatotoxicity of these medications is important in order to distinguish these complications from the hepatic manifestations of IBD. This review seeks to evaluate the hepatobiliary complications of non-steroid based IBD medications and aide providers in the recognition and management of these side-effects. PMID:26644815

  8. Neuropsychiatric manifestations of Fahr's disease pathogenesis and potential for treatment.

    PubMed

    Mushtaq, Raheel; Shoib, Sheikh; Raju, M S V K; Naphade, Nilesh; Shah, Tabindah; Pawar, Alka

    2013-07-01

    Fahr's disease (FD) is a rare neuropsychiatric disease consisting of bilateral basal ganglia calcification with neurological, cognitive, and psychiatric manifestations. We report here a sporadic case of FDs with its neuropsychology. PMID:25013318

  9. Mucocutaneous manifestations in children with human immunodeficiency virus infection.

    PubMed

    Mendiratta, Vibhu; Mittal, Saurabh; Jain, Arpita; Chander, Ram

    2010-01-01

    Skin is one of the most frequently involved organs in human immunodeficiency virus (HIV) infection, and mucocutaneous manifestations may be one of the earliest markers of AIDS. The prevalence of cutaneous abnormalities in HIV approaches nearly 90%. Mucocutaneous manifestations may also act as a prognostic marker of HIV infection. Children are increasingly being affected by HIV infection and it is important to realize the presence of the infection early in the disease process as their immune status is not mature enough to handle the stress of various infections. Skin manifestations can serve as early markers and prognostic indicators of HIV infection. This review highlights the epidemiology, transmission, pathogenesis, and the mucocutaneous manifestations of HIV infection in children. PMID:20826983

  10. Dust Acoustic Mode Manifestations in Earth's Dusty Ionosphere

    SciTech Connect

    Kopnin, S.I.; Popel, S.I.

    2005-10-31

    Dust acoustic mode manifestations in the dusty ionosphere are studied. The reason for an appearance of the low-frequency radio noises associated with such meteor fluxes as Perseids, Orionids, Leonids, and Gemenids is determined.

  11. 40 CFR 761.207 - The manifest-general requirements.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... (e.g., soil, debris, small capacitors), earliest date of removal from service for disposal, and... printed copies of the manifest may be available from State offices. Camera-ready copies of the form...

  12. 40 CFR 761.207 - The manifest-general requirements.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... (e.g., soil, debris, small capacitors), earliest date of removal from service for disposal, and... printed copies of the manifest may be available from State offices. Camera-ready copies of the form...

  13. Management of Musculoskeletal Manifestations in Inflammatory Bowel Disease

    PubMed Central

    Sheth, Tejas; Pitchumoni, C. S.; Das, Kiron M.

    2015-01-01

    Musculoskeletal manifestations are the most common extraintestinal manifestations in inflammatory bowel diseases. Some appendicular manifestations are independent of gut inflammation and are treated with standard anti-inflammatory strategies. On the other hand, axial involvement is linked to gut inflammatory activity; hence, there is a considerable amount of treatment overlap. Biological therapies have revolutionized management of inflammatory bowel diseases as well as of associated articular manifestations. Newer mechanisms driving gut associated arthropathy have surfaced in the past decade and have enhanced our interests in novel treatment targets. Introduction of biosimilar molecules is expected in the US market in the near future and will provide an opportunity for considerable cost savings on healthcare. A multidisciplinary approach involving a gastroenterologist, rheumatologist, and physical therapist is ideal for these patients. PMID:26170832

  14. 19 CFR 123.22 - In-transit manifest.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... CBP RELATIONS WITH CANADA AND MEXICO Shipments in Transit Through Canada or Mexico § 123.22 In-transit... cars or other overland carriers transiting Mexico a manifest on Customs Form 7512-B or 7533-C shall...

  15. 19 CFR 123.22 - In-transit manifest.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... CUSTOMS RELATIONS WITH CANADA AND MEXICO Shipments in Transit Through Canada or Mexico § 123.22 In-transit... cars or other overland carriers transiting Mexico a manifest on Customs Form 7512-B or 7533-C shall...

  16. Dimensions of Manifest Anxiety and Their Relationship to College Achievement

    ERIC Educational Resources Information Center

    Khan, S. B.

    1970-01-01

    Administration of the Taylor Manifest Anxiety scale to 153 male and 107 female college freshmen and factor analysis of the results, revealed that the only significant correlation was between psychosomatic fitness" and grades for males. (KJ)

  17. Noninfectious cutaneous manifestations of HIV infection in children.

    PubMed

    Rennert, Wolfgang P

    2006-02-01

    Skin infections and proliferative conditions affecting the skin commonly occur in children with HIV/AIDS and are differentiated from infections in immunocompetent children by unusual severity and distribution and age at onset. Skin manifestations of HIV disease usually are the result of various causes,from concomitant infection to nutritional deficiencies. Photographs to aid in the identification and appreciation of the atypical presentation of skin manifestations resulting from noninfectious complications of pediatric HIV infection are presented. PMID:16471276

  18. ESRD-associated cutaneous manifestations in a hemodialysis population.

    PubMed

    Headley, Carol M; Wall, Barry

    2002-12-01

    Cutaneous manifestations occurring in patients with end stage renal disease (ESRD) can indicate systemic problems that have significant morbidity and mortality risks. Skin changes are sometimes a consequence of the disease that caused the renal failure or may be an ESRD manifestation. Pruritus is the most prevalent ESRD cutaneous complaint, but its pathogenesis is not understood. The pathophysiology, presentation, and nursing implications of perforating dermatosis, metastatic calcification, polytetraflouroethylene graft infection, and lichen planus are discussed with corresponding case reports. PMID:12596603

  19. Neurological manifestation as presenting feature of dengue infection

    PubMed Central

    Aggarwal, Anju; Kumar, Pankaj; Faridi, M. M. A.

    2015-01-01

    Neurological manifestation as the presenting feature of dengue infection is rare. This is a brief description of five children 5 months to 11 years with presenting features as seizures or altered sensorium. Bleeding manifestations were seen in two. Cerebrospinal fluid examination was normal in all. All were diagnosed as per WHO definition of dengue hemorrhagic fever and managed as per standard protocol. Serology (IgM dengue) or nonstructural protein 1 antigen was positive in all. PMID:25878754

  20. Onychomadesis with Lichen Planus: An Under-Recognized Manifestation.

    PubMed

    Grover, Chander; Vohra, Suruchi

    2015-01-01

    Onychomadesis or proximal separation of the nail pate usually results from severe, generalized dermatoses like bullous diseases, hand foot and mouth disease, varicella or severe cutaneous drug reactions. Although lichen planus (LP) produces varied nail manifestations (longitudinal onychorrhexis, onychoschizia, nail pigmentation, pterygium etc.), to the best of our knowledge, onychomadesis as a manifestation of nail LP is not recorded. This report presents two children with onychomadesis arising with generalized eruptive LP. PMID:26288428

  1. 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

  2. Otorhinolaryngological Manifestations among HIV Positive Children in Coastal Karnataka

    PubMed Central

    Yamini; Mandelia, Chetan

    2015-01-01

    Introduction: With changed clinical profile of HIV related diseases, our study attempted to analyse otorhinolaryngological manifestations in HIV positive children coming to ART centre of a tertiary referral in South India. Materials and Methods: Records of 137 children registered at ART Centre, Government Wenlock Hospital, Kasturba Medical College, Mangalore from 2004 till 2010 were studied and data for this retrospective study was collected. Results: Twenty three (16.8%) children developed otorhinolaryngological manifestations, which were upper respiratory tract infection (13.1%), oral candidiasis (1.4%), otitis media (1.4%) and parotitis (1%). With increasing WHO stage, the ENT manifestations increased (p<0.05) while CD4 count decreased (p>0.05), 35% and 44% cases with ENT manifestations had CD4 counts above 500 cells/mm3 and below 200 cells/mm3 respectively (p>0.05). 24% children on HAART and 10.7% not on HAART developed ENT illnesses (p<0.05). Conclusion: With the current ART protocols, ENT manifestations are seen in 17% HIV positive children, most of which are aspecific. PMID:25954640

  3. Extrahepatic manifestations in chronic hepatitis C virus carriers.

    PubMed

    Rosenthal, E; Cacoub, P

    2015-04-01

    Patients with chronic hepatitis C virus (HCV) infection frequently present with extrahepatic manifestations covering a large spectrum, involving different organ systems leading to the concept of systemic HCV infection. These manifestations include autoimmune phenomena and frank autoimmune and/or rheumatic diseases and may dominate the course of chronic HCV infection. Chronic HCV infection causes liver inflammation affecting the development of hepatic diseases. HCV is also a lymphotropic virus that triggers B cells and promotes favorable conditions for B lymphocyte proliferation, including mixed cryoglobulinemia (MC) and MC vasculitis, which is the most prominent extrahepatic manifestation of chronic HCV infection. HCV may also promote a low-grade chronic systemic inflammation that may affect the development of some extrahepatic manifestations, particularly cardiovascular and cerebral vascular diseases. Recognition of extrahepatic symptoms of HCV infection could facilitate early diagnosis and treatment. The development of direct-acting antiviral agents (DDAs) has revolutionized HCV treatment. DDAs, as well as new B-cell-depleting or B-cell-modulating monoclonal antibodies, will expand the panorama of treatment options for HCV-related extrahepatic manifestations including cryoglobulinemic vasculitis. In this context, a proactive, integrated approach to HCV therapy should maximize the benefits of HCV therapy, even when liver disease is mild. PMID:25801890

  4. Urological Manifestations of Henoch-Schonlein Purpura: A Review

    PubMed Central

    Dalpiaz, Amanda; Schwamb, Richard; Miao, Yimei; Gonka, Jacquelyn; Walzter, Wayne; Khan, Sardar A.

    2015-01-01

    Henoch-Schonlein purpura (HSP) is an immune-mediated systemic vasculitis generally found in children. The standard manifestations of HSP are palpable purpura, arthritis, abdominal pain, and renal complications. Although less common, there are significant urological manifestations associated with HSP. The primary objective of this review is to encourage better understanding and management of HSP by emphasizing the common and rare manifestations of HSP, how they are diagnosed, and the latest treatment options for mild to severe complications. Medline searches of HSP and its urological manifestations were conducted along with searches on current diagnostic and treatment methods. Urological manifestations of HSP involve the kidney, ureter, bladder, prostate, scrotum, testicle, and penis. Diagnosis and management of HSP are not always clear due to differential diagnosis and diversity of symptom presentation. Treatment for HSP is mainly supportive and includes use of nonsteroidal anti-inflammatory drugs for pain relief. In more severe cases, glucocorticoids, methylprednisolone, plasmapheresis, and peritoneal and hemodialysis are reported successful. It is important to note different symptoms of HSP in order to distinguish HSP from other diseases. Early diagnosis may prevent severe complications. Treatment options vary from conservative to invasive depending on the severity of the disease and time frame of diagnosis.

  5. Ocular Manifestations of Acquired Immunodeficiency Syndrome in Korea

    PubMed Central

    Kim, Sang Jin; Park, Sang Jun; Kim, Nam Joong; Jang, Hee-Chang; Oh, Myoung-don

    2012-01-01

    The clinical features of HIV/AIDS-related ocular manifestations in Korean patients were investigated in this study. Data on 200 consecutive Korean patients diagnosed with AIDS who visited the Seoul National University Hospital from January 2003 to June 2008 were reviewed. Fifty-seven patients (28.5%) had ocular manifestations, and they showed significantly lower CD4+ T cell count than patients without ocular manifestations. Among them, 23 (40.3%) patients showed retinal microvasculopathy, and 22 (38.5%) patients showed cytomegalovirus (CMV) retinitis. Other manifestations included retinal vein occlusion (n = 4), herpes zoster ophthalmicus (n = 4), syphilitic uveitis (n = 2), acute retinal necrosis (n = 1), and progressive outer retinal necrosis (n = 1). The mean CD4+ lymphocyte counts of the patients with retinal microvasculopathy and cytomegalovirus retinitis were 108.5 cells/µL and 69.4 cells/µL, respectively. In conclusion, ocular manifestations including CMV retinitis are common complications in Korean patients with AIDS even in the era of highly active anti-retroviral therapy. Compared to previous reports in western countries, prevalence of CMV retinitis is relatively low and CD4+ lymphocytes count at the time of diagnosis is relatively high. PMID:22563221

  6. Extraintestinal manifestations of Helicobacter pylori: A concise review

    PubMed Central

    Wong, Frank; Rayner-Hartley, Erin; Byrne, Michael F

    2014-01-01

    Helicobacter pylori (H. pylori) infection has been clearly linked to peptic ulcer disease and some gastrointestinal malignancies. Increasing evidence demonstrates possible associations to disease states in other organ systems, known as the extraintestinal manifestations of H. pylori. Different conditions associated with H. pylori infection include those from hematologic, cardiopulmonary, metabolic, neurologic, and dermatologic systems. The aim of this article is to provide a concise review of the evidence that supports or refutes the associations of H. pylori and its proposed extraintestinal manifestations. Based on data from the literature, PUD, mucosal associated lymphoid tumors lymphoma, and gastric adenocarcinoma has well-established links. Current evidence most supports extraintestinal manifestations with H. pylori in immune thrombocytopenic purpura, iron deficiency anemia, urticaria, Parkinson’s, migraines and rosacea; however, there is still plausible link with other diseases that requires further research. PMID:25232230

  7. Skin gangrene as an extraintestinal manifestation of inflammatory bowel disease.

    PubMed

    Komatsu, Yumi Cristina; Capareli, Gabriela Cunha; Boin, Maria Fernanda Feitosa de Camargo; Lellis, Rute; Freitas, Thas Helena Proena de; Simone, Karine

    2014-01-01

    Inflammatory bowel diseases can commonly present many cutaneous lesions which can contribute to the diagnosis of the disease or its activity. The most frequent cutaneous or mucocutaneous manifestations suggesting ulcerative rectocolitis activity are erythema nodosum (3-10%), pyoderma gangrenosum (5-12%) and aphthous stomatitis (4%). Other reactive skin manifestations related to immunological mechanisms associated with the inflammatory bowel disease are: Sweet's syndrome, arthritis-dermatitis syndrome associated with inflammatory bowel disease and leukocytoclastic vasculitis. We describe the case of a young man with diagnosis of ulcerative rectocolitis, which presented an extensive cutaneous gangrene secondary to microvascular thrombosis. The case represents a dermatologic rarity and should be recognized as a cutaneous manifestation related to the hypercoagulability state observed in the disease's activity. PMID:25387503

  8. Dermatological manifestations of hepatitis C virus infection in Saudi Arabia.

    PubMed

    Halawani, Mona R

    2014-06-01

    The Saudi Ministry of Health data indicates that almost 32% of viral hepatitis cases were caused by hepatitis C virus (HCV). It has been widely reported that chronic HCV infection is associated with and may trigger or exacerbate many skin manifestations in 20-40% of patients visiting dermatologists. The most commonly encountered dermatological manifestations of HCV infection globally include mixed cryoglobulinemia, porphyria cutanea tarda, cutaneous and/or oral lichen planus, urticaria, pruritus, thrombocytopenic purpura, and psoriasis. The current article indicates that HCV infection is increasing in Saudi Arabia and approximately 12% of the reported dermatological manifestations are caused by HCV infection. We recommend the urgent need for large-scale, case-control studies to understand the impact of HCV infection in patients with skin disease. PMID:24888650

  9. Case report of Graves' disease manifesting with odynophagia and heartburn.

    PubMed

    Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

    2015-12-28

    Graves' disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves' disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment. PMID:26730171

  10. Management of the behavioural manifestations of Hunter syndrome.

    PubMed

    Roberts, Jane; Stewart, Catherine; Kearney, Shauna

    2016-01-14

    This article reviews the behavioural manifestations of, and the strategies for managing, Hunter syndrome (mucopolysaccharidosis (MPS) type II), a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulphatase. Hunter syndrome is generally considered to have two manifestations: an attenuated form and a severe form; in the latter, the person has pronounced cognitive decline. Infants with either phenotype usually appear normal at birth, but may show some somatic signs. Children with the severe phenotype show developmental delay and changes in behaviour patterns at about 18 months to 4 years of age. To varying degrees, patients with the severe form manifest behavioural disorders such as hyperactivity, aggression, impulsivity, anxiety and sleep disturbances. Medications, such as antipsychotics, benzodiazepines and anticonvulsants, have been tried with varying degrees of success. Behavioural management strategies may be a worthwhile approach, although published data are lacking. For sleep disturbances, behavioural modification plus melatonin or benzodiazepine may be effective treatments. PMID:26768041

  11. Cutaneous manifestations of Hyper IgE syndrome.

    PubMed

    Minegishi, Yoshiyuki; Saito, Masako

    2012-06-01

    Hyper-IgE syndrome (HIES) is a primary immunodeficiency disorder characterized by atopic manifestations and susceptibility to infections with extracellular bacteria and fungi. Atopic manifestations include atopic dermatitis-like skin lesion and extremely high serum IgE levels. Most of the extracellular bacterial infections are caused by Staphylococcus aureus, which is associated with milder inflammation compared to normal. Recent studies have revealed that the most cases of the HIES are caused by dominant negative mutations in STAT3 gene. Cutaneous manifestations of HIES includes newborn rash, eczematoid dermatitis, cold abscesses, mucocutaneous candidiasis, and coarse texture of the facial skin. Impaired Th17 cell development due to the defective IL-6 signaling in T cells and impaired induced regulatory T (iTreg) cell generation due to defective IL-10 signaling in dendritic cells may, at least in part, account for the cutaneous pathology of HIES. PMID:22441639

  12. Case report of Graves disease manifesting with odynophagia and heartburn

    PubMed Central

    Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

    2015-01-01

    Graves disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment. PMID:26730171

  13. FRAGILE X SYNDROME: PSYCHIATRIC MANIFESTATIONS, ASSESSMENT AND EMERGING THERAPIES

    PubMed Central

    Wadell, Paula M.; Hagerman, Randi J.; Hessl, David R.

    2015-01-01

    Fragile X Syndrome (FXS), the most common inherited cause of intellectual disabilities, is an X-linked dominant disorder caused by the amplification of a CGG repeat in the 5? untranslated region of the fragile X mental retardation gene 1 (FMR1). Prevalence estimates of the disorder are approximately 1/3600. Psychiatric manifestations of the disorder include anxiety, attention deficit hyperactivity disorder, autism, mood instability and aggression. In this article we review the above psychiatric manifestations and challenges to accurate assessment. We also discuss how the neurobiological underpinnings of these symptoms are beginning to be understood and can help guide treatment. PMID:25632275

  14. Advancements in Pharmacotherapy for Noncancerous Manifestations of HPV

    PubMed Central

    Kollipara, Ramya; Ekhlassi, Erfon; Downing, Christopher; Guidry, Jacqueline; Lee, Michael; Tyring, Stephen K.

    2015-01-01

    Human papillomavirus (HPV) is the most common sexually transmitted disease. Via infection of the basal epithelial cells, HPV causes numerous malignancies and noncancerous cutaneous manifestations. Noncancerous cutaneous manifestations of HPV, including common, plantar, plane, and anogenital warts, are among the most common reasons for an office visit. Although there are various therapies available, they are notoriously difficult to treat. HPV treatments can be grouped into destructive (cantharidin, salicylic acid), virucidal (cidofovir, interferon-?), antimitotic (bleomycin, podophyllotoxin, 5-fluorouracil), immunotherapy (Candida antigen, contact allergen immunotherapy, imiquimod) or miscellaneous (trichloroacetic acid, polyphenon E). The mechanism of action, recent efficacy data, safety profile and recommended regimen for each of these treatment modalities is discussed. PMID:26239450

  15. Physical manifestation of extreme events in random lasers.

    PubMed

    Uppu, Ravitej; Mujumdar, Sushil

    2015-11-01

    We report our studies on exponentially-tempered Lvy sums that explain coherent random lasers based on nonresonant feedback. We investigate the hierarchy in the sums and identify the contribution of the extremes over a wide range of excitation energies and disorder strengths. Subsequently, we carry out experiments in which the physical manifestation of these extremes is revealed. At the appropriate gain and disorder, the extremes manifest as the sharp ultranarrow modes in the spectrum. At stronger excitation and disorder, the peaks disappear due to the reduced rarity of the extremes, compounded by the decreased magnitude effected by the tempering. PMID:26512515

  16. Autoimmune thyroid diseases: etiology, pathogenesis, and dermatologic manifestations.

    PubMed

    Ai, Julia; Leonhardt, Janie M; Heymann, Warren R

    2003-05-01

    Autoimmune thyroid disease (AITD) including Graves' disease, Hashimoto's thyroiditis, and idiopathic hypothyroidism (atrophic Hashimoto's thyroiditis) is of vital concern to the dermatologist. This article reviews the cutaneous manifestations of Graves' disease and Hashimoto's thyroiditis. Recognition of dermatologic manifestations of AITD may alert practitioners to investigate for these disorders. The immune response involved in the pathogenesis of AITD is detailed. Current understanding of the role of genetic and environmental factors, antigens, and apoptosis are elaborated. The future holds exciting insight into the etiology, pathogenesis, and treatment of AITD. PMID:12734493

  17. Isolated Tricuspid Regurgitation: Initial Manifestation of Cardiac Amyloidosis

    PubMed Central

    Yoon, Dong Woog; Park, Byung-Jo; Kim, In Sook; Jeong, Dong Seop

    2015-01-01

    Amyloid deposits in the heart are not exceptional in systemic amyloidosis. The clinical manifestations of cardiac amyloidosis may include restrictive cardiomyopathy, characterized by progressive diastolic and eventually systolic bi-ventricular dysfunction; arrhythmia; and conduction defects. To the best of our knowledge, no previous cases of isolated tricuspid regurgitation as the initial manifestation of cardiac amyloidosis have been reported. We describe a rare case of cardiac amyloidosis that initially presented with severe tricuspid regurgitation in a 42-year-old woman who was successfully treated with tricuspid valve replacement. Unusual surgical findings prompted additional evaluation that established a diagnosis of plasma cell myeloma. PMID:26665112

  18. Neuralgic Amyotrophy Manifesting as Mimicking Posterior Interosseous Nerve Palsy

    PubMed Central

    Yang, Jin Seo; Kang, Suk Hyung; Choi, Eun Hi

    2015-01-01

    The upper trunk of the brachial plexus is the most common area affected by neuralgic amyotrophy (NA), and paresis of the shoulder girdle muscle is the most prevalent manifestation. Posterior interosseous nerve palsy is a rare presentation in patients with NA. It results in dropped finger on the affected side and may be misdiagnosed as entrapment syndrome or compressive neuropathy. We report an unusual case of NA manifested as PIN palsy and suggest that knowledge of clinical NA phenotypes is crucial for early diagnosis of peripheral nerve palsies. PMID:26713154

  19. Social Support in Elderly Nursing Home Populations: Manifestations and Influences

    ERIC Educational Resources Information Center

    Rash, Elizabeth M.

    2007-01-01

    The purpose of this study was to describe the characteristics of social support and the influencing factors on social support in nursing home environments. Observations and staff questionnaires from two central Florida nursing homes were used in this grounded theory study to answer the following questions: (1) How is social support manifested? and

  20. 10 CFR 20.2006 - Transfer for disposal and manifests.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 CFR part 20 are designed to— (1) Control transfers of low-level radioactive waste by any waste... appendix G to 10 CFR part 20. (c) Each shipment manifest must include a certification by the waste generator as specified in section II of appendix G to 10 CFR part 20. (d) Each person involved in...

  1. 40 CFR 265.71 - Use of manifest system.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... accompanied by a shipping paper containing all the information required on the manifest (excluding the EPA... owner or operator of that facility must comply with the requirements of part 262 of this chapter. (d) Within three (3) working days of the receipt of a shipment subject to 40 CFR part 262, subpart H,...

  2. 40 CFR 264.71 - Use of manifest system.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... accompanied by a shipping paper containing all the information required on the manifest (excluding the EPA... owner or operator of that facility must comply with the requirements of part 262 of this chapter. (d) Within three (3) working days of the receipt of a shipment subject to 40 CFR part 262, subpart H,...

  3. Empirical Manifestations of Power among Adult Learners in Online Discussions

    ERIC Educational Resources Information Center

    Jun, JuSung

    2007-01-01

    This study examined the nature of power manifestations in a specific online learning setting. The two online classes selected for this study were Master's level courses in a professional school at a large state university in the United States. A total of 1340 postings were made in the two classes over the span of the semester. To test the research

  4. Bleeding Ectopic Varices as the First Manifestation of Portal Hypertension

    PubMed Central

    Sharma, Brij; Raina, Sujeet; Sharma, Rajesh

    2014-01-01

    Ectopic varices are defined as dilated portosystemic collateral veins in locations other than the gastroesophageal region. We present a case of recurrent upper gastrointestinal bleeding as the first manifestation of portal hypertension. We diagnosed ectopic duodenal varices without gastroesophageal varices on upper GI endoscopy and extrahepatic portal venous obstruction (EHPVO) on CT angiography and managed this case. PMID:25374725

  5. Post-transplant lymphoproliferative disorders with naso- and oropharyngeal manifestation.

    PubMed

    Akbas, Ayla; Tiede, Christina; Lemound, Juliana; Maecker-Kolhoff, Britta; Kreipe, Hans; Hussein, Kais

    2015-11-01

    The nasopharyngeal/oropharyngeal lymphatic tissues represent the anatomical site of Epstein-Barr virus (EBV) entry. Post-transplant lymphoproliferative disorders (PTLD) are often associated with EBV, but little is known about the characteristics of nasopharyngeal/oropharyngeal mass-forming PTLD. Retrospective evaluation of our own PTLD database (n=79) and the PubMed() database (n=61) has been performed. Sinonasal/oro-/nasopharyngeal lymphatic masses were early lesions (n=54/140, 38.5%), polymorphic PTLD (n=32/140, 23%), monomorphic B-PTLD (n=47/140, 33.5%) and T-PTLD (n=7/140, 5%). One-fourth of lesions manifested as masses in the Waldeyer's ring, and in two-thirds of cases, swelling of tonsils was related to manifestation of benign early lesions. Tonsil infiltration by polymorphic PTLD and monomorphic PTLD was present in one-third of cases. Extratonsillar masses were mainly monomorphic PTLD. Meta-analysis of our data in combination with previously published data revealed that lung transplantation and young patients are at a higher risk for earlier manifestation of monomorphic PTLD. Therapy is similar to PTLD therapy strategies, in general reduced immunosuppression and chemotherapy for polymorphic and monomorphic PTLD, and diagnostic and therapeutic surgical gross tumour resection of tonsillar/adenoid lesions. In summary, it is relevant for the clinical differential diagnosis that oro-/nasopharyngeal aggressive PTLD manifested in ~30% as tonsillar masses and >90% at extratonsillar sites. PMID:26147593

  6. Self-Organization in the Manifestations of Youth Extremism

    ERIC Educational Resources Information Center

    Zubok, Iu. A.; Chuprov, V. I.

    2011-01-01

    The analysis of the nature of youth extremism has shown that there is a connection between the extremist tendency ["ekstremal'nost'"] that is an essential property of young people, on the one hand, and extremist manifestations that come about in that community under certain conditions. These conditions include external ones (the economic,

  7. Neurologic manifestations of inherited disorders of connective tissue.

    PubMed

    Debette, Stéphanie; Germain, Dominique P

    2014-01-01

    Inherited disorders of connective tissue are single gene disorders affecting structure or function of the connective tissue. Neurological manifestations are classic and potentially severe complications of many such disorders. The most common neurological manifestations are cerebrovascular. Ischemic stroke is a classic complication of vascular Ehlers-Danlos syndrome (type IV), homocystinuria, and arterial tortuosity syndrome, and may occasionally be seen in Marfan syndrome and pseudoxanthoma elasticum with distinct underlying mechanisms for each disease. Vascular Ehlers-Danlos syndrome can also lead to cervical artery dissection (with or without ischemic stroke), carotid-cavernous fistula, intracranial dissections and aneurysms potentially causing subarachnoid or intracerebral hemorrhage, and arterial rupture. Other neurological manifestations include nerve root compression and intracranial hypotension due to dural ectasia in Marfan and Loeys-Dietz syndrome, spinal cord compression in osteogenesis imperfecta, and mucopolysaccharidosis type I and VI, carpal tunnel syndrome in mucopolysaccharidosis type I, II, and VI. Impaired mental development can be observed in homocystinuria, mucopolysaccharidosis type II, and the severe form of mucopolysaccharidosis type I. For the neurologist, being aware of these complications and of the diagnostic criteria for inherited connective tissue disorders is important since neurological complications can be the first manifestation of the disease and because caution may be warranted for the management of these patients. PMID:24365320

  8. Space Launch System Co-Manifested Payload Options for Habitation

    NASA Technical Reports Server (NTRS)

    Smitherman, David

    2015-01-01

    The Space Launch System (SLS) has a co-manifested payload capability that will grow over time as the launch vehicle matures and planned upgrades are implemented. The final configuration is planned to be capable of inserting a payload greater than 10 metric tons (mt) into a trans-lunar injection trajectory along with the crew in the Orion capsule and its service module. The co-manifested payload is located below the Orion and its service module in a 10 m high fairing similar to the way the Saturn launch vehicle carried the lunar lander below the Apollo command and service modules. Various approaches that utilize this comanifested payload capability to build up infrastructure in deep space have been explored in support of future asteroid, lunar, and Mars mission scenarios. This paper reports on the findings of the Advanced Concepts Office study team at NASA Marshall Space Flight Center (MSFC) working with the Advanced Exploration Systems Program on the Exploration Augmentation Module Project. It includes some of the possible options for habitation in the co-manifested payload volume of the SLS. Findings include a set of module designs that can be developed in 10 mt increments to support these co-manifested payload missions along with a comparison of this approach to a large-module payload flight configuration for the SLS.

  9. Space Launch System Co-Manifested Payload Options for Habitation

    NASA Technical Reports Server (NTRS)

    Smitherman, David

    2015-01-01

    The Space Launch System (SLS) has a co-manifested payload capability that will grow over time as the rocket matures and planned upgrades are implemented. The final configuration is planned to be capable of inserting a payload greater than 10 metric tons (mt) into a trans-lunar injection trajectory along with the crew in the Orion capsule and the service module. The co-manifested payload is located below the Orion and its service module in a 10-meter high fairing similar to the way the Saturn launch vehicle carried the lunar lander below the Apollo command and service modules. A variety of approaches have been explored that utilizes this co-manifested payload capability to build up infrastructure in deep space in support of future asteroid, lunar, and Mars mission scenarios. This paper is a report on the findings from the Advanced Concepts Office study team at the NASA Marshall Space Flight Center, working with the Advanced Exploration Systems Program on the Exploration Augmentation Module Project. It includes some of the possible options for habitation in the co-manifested payload volume on SLS. Findings include module designs that can be developed in 10mt increments to support these missions, including overall conceptual layouts, mass properties, and approaches for integration into various scenarios for near-term support of deep space habitat research and technology development, support to asteroid exploration, and long range support for Mars transfer flights.

  10. 19 CFR 123.22 - In-transit manifest.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... CBP RELATIONS WITH CANADA AND MEXICO Shipments in Transit Through Canada or Mexico 123.22 In-transit... requirements contained in 4.82 of this chapter. (3) For rail cars transiting Canada, a manifest on Customs Form 7533-C (Canada A4-1/2) shall be presented. For trains which will remain intact while...

  11. 19 CFR 123.22 - In-transit manifest.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... CBP RELATIONS WITH CANADA AND MEXICO Shipments in Transit Through Canada or Mexico 123.22 In-transit... requirements contained in 4.82 of this chapter. (3) For rail cars transiting Canada, a manifest on Customs Form 7533-C (Canada A4-1/2) shall be presented. For trains which will remain intact while...

  12. The Development and Manifestation of Altruistic Caring: A Qualitative Inquiry

    ERIC Educational Resources Information Center

    Curry, Jennifer R.; Smith, Heather L.; Robinson, Edward H., III

    2009-01-01

    Qualitative, phenomenological research provides rich information about the constructive, life span perspectives of the manifestation and development of altruism. Using an interpretive phenomenological approach, this study investigated "altruism" as described by 34 older persons in a continuing care retirement community. The findings identified 13…

  13. The Development and Manifestation of Altruistic Caring: A Qualitative Inquiry

    ERIC Educational Resources Information Center

    Curry, Jennifer R.; Smith, Heather L.; Robinson, Edward H., III

    2009-01-01

    Qualitative, phenomenological research provides rich information about the constructive, life span perspectives of the manifestation and development of altruism. Using an interpretive phenomenological approach, this study investigated "altruism" as described by 34 older persons in a continuing care retirement community. The findings identified 13

  14. 19 CFR 123.25 - Certification and disposition of manifests.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...; DEPARTMENT OF THE TREASURY CUSTOMS RELATIONS WITH CANADA AND MEXICO Shipments in Transit Through Canada or Mexico § 123.25 Certification and disposition of manifests. (a) Certification. Conveyances proceeding... required when the merchandise is to be transshipped in Canada or Mexico under Customs supervision shall...

  15. The Rolex sign: first manifestation of Parkinson's disease: case report.

    PubMed

    Teive, H A; Sá, D S

    2000-09-01

    We describe a patient whose initial manifestation of Parkinson's disease was a malfunctioning of a self-winding wristwatch secondary to bradykinesia of his left arm. Andrade and Ferraz reported this sign in 1996, suggesting that it be called the Rolex sign. PMID:10973116

  16. 40 CFR 265.71 - Use of manifest system.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ...) Within three (3) working days of the receipt of a shipment subject to 40 CFR part 262, subpart H, the... or obtaining a valid and enforceable electronic signature within the meaning of 40 CFR 262.25. (2... the electronic manifest system for purposes of data entry and processing. In lieu of mailing...

  17. 40 CFR 264.71 - Use of manifest system.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ...) Within three (3) working days of the receipt of a shipment subject to 40 CFR part 262, subpart H, the... electronic signature within the meaning of 40 CFR 262.25. (2) Any requirement in these regulations to give... the e-Manifest system for purposes of data entry and processing. In lieu of mailing this paper copy...

  18. Biological therapy for dermatological manifestations of inflammatory bowel disease.

    PubMed

    Zippi, Maddalena; Pica, Roberta; De Nitto, Daniela; Paoluzi, Paolo

    2013-05-16

    Ulcerative colitis and Crohn's disease are the two forms of inflammatory bowel disease (IBD). The advent of biological drugs has significantly changed the management of these conditions. Skin manifestations are not uncommon in IBD. Among the reactive lesions (immune-mediated extraintestinal manifestations), erythema nodosum (EN) and pyoderma gangrenosum (PG) are the two major cutaneous ills associated with IBD, while psoriasis is the dermatological comorbidity disease observed more often. In particular, in the last few years, anti-tumor necrosis factor (TNF)-? agents have been successfully used to treat psoriasis, especially these kinds of lesions that may occur during the treatment with biological therapies. The entity of the paradoxical manifestations has been relatively under reported as most lesions are limited and a causal relationship with the treatment is often poorly understood. The reason for this apparent side-effect of the therapy still remains unclear. Although side effects may occur, their clinical benefits are undoubted. This article reviews the therapeutic effects of the two most widely used anti-TNF-? molecules, infliximab (a fusion protein dimer of the human TNF-? receptor) and adalimumab (a fully human monoclonal antibody to TNF-?), for the treatment of the major cutaneous manifestations associated with IBD (EN, PG and psoriasis). PMID:24303470

  19. Links between Early Attachment Experiences and Manifestations of Spirituality

    ERIC Educational Resources Information Center

    Surr, John

    2011-01-01

    This essay reviews recent research about infant attachment, then discusses the implications of this research as they relate to the following specific manifestations of children's spirituality: faith, wonder, relational consciousness, flow (as in a sense of wholeness or unity), and compassion, in the light of other research on children's

  20. 40 CFR 761.211 - Manifest system-Transporter requirements.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ...) TOXIC SUBSTANCES CONTROL ACT POLYCHLORINATED BIPHENYLS (PCBs) MANUFACTURING, PROCESSING, DISTRIBUTION IN COMMERCE, AND USE PROHIBITIONS PCB Waste Disposal Records and Reports § 761.211 Manifest system—Transporter requirements. (a)(1) A transporter shall not accept PCB waste from a generator unless it is accompanied by...

  1. 40 CFR 761.208 - Use of the manifest.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... issued by the Department of Transportation (DOT) and set forth at 49 CFR part 171. (c)(1) If a commercial... 761.208 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES CONTROL... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.208 Use of the manifest. (a)(1) The generator of...

  2. 40 CFR 761.208 - Use of the manifest.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... issued by the Department of Transportation (DOT) and set forth at 49 CFR part 171. (c)(1) If a commercial... 761.208 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES CONTROL... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.208 Use of the manifest. (a)(1) The generator of...

  3. 40 CFR 761.209 - Retention of manifest records.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 30 2010-07-01 2010-07-01 false Retention of manifest records. 761.209 Section 761.209 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES CONTROL ACT POLYCHLORINATED BIPHENYLS (PCBs) MANUFACTURING, PROCESSING, DISTRIBUTION IN COMMERCE, AND USE PROHIBITIONS PCB Waste Disposal...

  4. 40 CFR 761.212 - Transporter compliance with the manifest.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... new manifest must include all of the information required in 40 CFR 761.215(e)(1) through (6) or (f)(1... CFR 761.215(e)(1) through (6). (iii) No provision of this section shall be construed to affect or... issued by the Department of Transportation (DOT) and set forth at 49 CFR Part 171....

  5. 40 CFR 761.214 - Retention of manifest records.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... Section 761.214 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.214 Retention of manifest records. (a)(1) A generator... receives a signed copy from the designated facility which received the PCB waste. This signed copy must...

  6. 40 CFR 761.208 - Use of the manifest.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 30 2010-07-01 2010-07-01 false Use of the manifest. 761.208 Section 761.208 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES CONTROL ACT POLYCHLORINATED BIPHENYLS (PCBs) MANUFACTURING, PROCESSING, DISTRIBUTION IN COMMERCE, AND USE PROHIBITIONS PCB Waste Disposal Records...

  7. 40 CFR 761.214 - Retention of manifest records.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... Section 761.214 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.214 Retention of manifest records. (a)(1) A generator... receives a signed copy from the designated facility which received the PCB waste. This signed copy must...

  8. 77 FR 54818 - Polychlorinated Biphenyls (PCBs): Revisions to Manifesting Regulations

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-06

    ... regulations promulgated on March 4, 2005 (70 FR 10815), all of the States must use the same uniform manifest... private right-of-way within or along the border of contiguous property (codified under 62 FR 6651, Feb. 12... requirements, which uses the Resource Conservation and Recovery Act (RCRA) Uniform Hazardous Waste...

  9. 40 CFR 761.212 - Transporter compliance with the manifest.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... new manifest must include all of the information required in 40 CFR 761.215(e)(1) through (6) or (f)(1... CFR 761.215(e)(1) through (6). (iii) No provision of this section shall be construed to affect or... issued by the Department of Transportation (DOT) and set forth at 49 CFR Part 171....

  10. 40 CFR 761.211 - Manifest system-Transporter requirements.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ...) TOXIC SUBSTANCES CONTROL ACT POLYCHLORINATED BIPHENYLS (PCBs) MANUFACTURING, PROCESSING, DISTRIBUTION IN COMMERCE, AND USE PROHIBITIONS PCB Waste Disposal Records and Reports § 761.211 Manifest system—Transporter requirements. (a)(1) A transporter shall not accept PCB waste from a generator unless it is accompanied by...

  11. Management and evaluation of extra-articular manifestations in spondyloarthritis

    PubMed Central

    Nurmohamed, Michael T.

    2012-01-01

    Spondyloarthritis (SpA) is a chronic inflammatory disease with either predominantly axial symptoms of the spine and sacroiliac joints (axial SpA, including ankylosing spondylitis) or predominantly arthritis (peripheral SpA). Next to these spinal and articular symptoms, many patients with SpA also have extra-articular manifestations (EAMs). EAMs associated with SpA include anterior uveitis (2530%), psoriasis (1025%) or inflammatory bowel disease (IBD) (510%) and cardiovascular manifestations. Peripheral arthritis occurs in approximately 30% of patients, especially in large joints, and shows an asymmetrical, oligoarticular pattern. Other common joint complaints are due to enthesitis, which manifest as extra-articular bony tenderness in areas such as the Achilles tendon. Acute anterior uveitis presents with acute pain, loss of vision and redness in one eye that usually subsides spontaneously after several weeks. Rapid treatment by an ophthalmologist is required to prevent synechiae formation which could ultimately result in glaucoma and blindness. Although less common, organ involvement in SpA can also be located in the heart, lungs or kidneys. The risk of cardiovascular events is increased in SpA. Cardiac manifestations can involve the aortic valve (110%) or the atrioventricular node and the risk of atherosclerotic events is increased in this group. Treatment of SpA includes physical exercise and nonsteroidal anti-inflammatory drugs (NSAIDs), and in case of peripheral arthritis, sulphasalazine can be added. When there is insufficient response to NSAIDs, tumor necrosis factor blockers, especially infliximab, etanercept, adalimumab and golimumab, are very effective in treating axial manifestations, arthritis, enthesitis and psoriasis. Anterior uveitis in SpA can be treated adequately by the ophthalmologist and in the case of refractory uveitis, treatment with adalimumab and infliximab seems to be more effective compared with etanercept. When IBD occurs with SpA, the use of NSAIDs should be minimized, except for celecoxib, and infliximab or adalimumab are preferred to etanercept. The incidence of atherosclerotic events or SpA-specific cardiac manifestations may be decreased by cardiovascular risk management or effective antirheumatic treatment. Overall it is important to realize that extra-articular manifestations frequently occur in patients with SpA and should be taken into account in the choice of treatment. PMID:23227118

  12. 19 CFR 122.113 - Form for transit air cargo manifest procedures.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 1 2010-04-01 2010-04-01 false Form for transit air cargo manifest procedures... SECURITY; DEPARTMENT OF THE TREASURY AIR COMMERCE REGULATIONS Transit Air Cargo Manifest (TACM) Procedures 122.113 Form for transit air cargo manifest procedures. A manifest on Customs Form 7509 is...

  13. 19 CFR 122.113 - Form for transit air cargo manifest procedures.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 19 Customs Duties 1 2012-04-01 2012-04-01 false Form for transit air cargo manifest procedures... SECURITY; DEPARTMENT OF THE TREASURY AIR COMMERCE REGULATIONS Transit Air Cargo Manifest (TACM) Procedures 122.113 Form for transit air cargo manifest procedures. A manifest on Customs Form 7509 is...

  14. 19 CFR 122.113 - Form for transit air cargo manifest procedures.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 19 Customs Duties 1 2014-04-01 2014-04-01 false Form for transit air cargo manifest procedures... SECURITY; DEPARTMENT OF THE TREASURY AIR COMMERCE REGULATIONS Transit Air Cargo Manifest (TACM) Procedures 122.113 Form for transit air cargo manifest procedures. A manifest on Customs Form 7509 is...

  15. 19 CFR 122.113 - Form for transit air cargo manifest procedures.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 19 Customs Duties 1 2013-04-01 2013-04-01 false Form for transit air cargo manifest procedures... SECURITY; DEPARTMENT OF THE TREASURY AIR COMMERCE REGULATIONS Transit Air Cargo Manifest (TACM) Procedures 122.113 Form for transit air cargo manifest procedures. A manifest on Customs Form 7509 is...

  16. 19 CFR 122.113 - Form for transit air cargo manifest procedures.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 1 2011-04-01 2011-04-01 false Form for transit air cargo manifest procedures... SECURITY; DEPARTMENT OF THE TREASURY AIR COMMERCE REGULATIONS Transit Air Cargo Manifest (TACM) Procedures 122.113 Form for transit air cargo manifest procedures. A manifest on Customs Form 7509 is...

  17. Optic Neuritis as Isolated Manifestation of Leptomeningeal Carcinomatosis: A Case Report and Systematic Review of Ocular Manifestations of Neoplastic Meningitis

    PubMed Central

    Basilico, Paola; Trezzi, Ilaria; Borellini, Linda; Franco, Giulia; Civelli, Vittorio; Bresolin, Nereo; Baron, Pierluigi

    2013-01-01

    Introduction. Leptomeningeal carcinomatosis occurs in about 5% of cancer patients. Ocular involvement is a common clinical manifestation and often the presenting clinical feature. Materials and Methods. We report the case of a 52-year old lady with optic neuritis as isolated manifestation of neoplastic meningitis and a review of ocular involvement in neoplastic meningitis. Ocular symptoms were the presenting clinical feature in 34 patients (83%) out of 41 included in our review, the unique manifestation of meningeal carcinomatosis in 3 patients (7%). Visual loss was the presenting clinical manifestation in 17 patients (50%) and was the most common ocular symptom (70%). Other ocular signs were diplopia, ptosis, papilledema, anisocoria, exophthalmos, orbital pain, scotomas, hemianopsia, and nystagmus. Associated clinical symptoms were headache, altered consciousness, meningism, limb weakness, ataxia, dizziness, seizures, and other cranial nerves involvement. All patients except five underwent CSF examination which was normal in 1 patient, pleocytosis was found in 11 patients, increased protein levels were observed in 16 patients, and decreased glucose levels were found in 8 patients. Cytology was positive in 29 patients (76%). Conclusion. Meningeal carcinomatosis should be considered in patients with ocular symptoms even in the absence of other suggestive clinical symptoms. PMID:24223306

  18. Anaphylaxis as a clinical manifestation of clonal mast cell disorders.

    PubMed

    Matito, A; Alvarez-Twose, I; Morgado, J M; Sánchez-Muñoz, L; Orfao, A; Escribano, L

    2014-08-01

    Clonal mast cell disorders comprise a heterogeneous group of disorders characterized by the presence of gain of function KIT mutations and a constitutively altered activation-associated mast cell immunophenotype frequently associated with clinical manifestations related to the release of mast cells mediators. These disorders do not always fulfil the World Health Organization (WHO)-proposed criteria for mastocytosis, particularly when low-sensitive diagnostic approaches are performed. Anaphylaxis is a frequent presentation of clonal mast cell disorders, particularly in mastocytosis patients without typical skin lesions. The presence of cardiovascular symptoms, e.g., hypotension, occurring after a hymenoptera sting or spontaneously in the absence of cutaneous manifestations such as urticaria is characteristic and differs from the presentation of anaphylaxis in the general population without mastocytosis. PMID:24947681

  19. A study of cutaneous manifestations in HIV infected persons.

    PubMed

    Harish, M R; Shanmukhappa; Kumar, Shashi; Kumar, Mahesh; Gowda, M S Sidde

    2012-10-01

    Skin is one of the major target organs during all stages of HIV. The present study is conducted to know the dermatological manifestations among 181 HIV positive patients over a period of 17 months ie, from 01-03-2006 to 31-08-2007 at Mandya Institute of Medical Sciences, Mandya. Of these 181 patients, skin diseases were seen in 82 patients (45.3%), 41 patients had only one dermatological disease, 25 had two, 10 had three and 6 patients had more than four diseases. It was observed that a total of 45.3% patients among the study group developed mucocutaneous manifestations. Therefore early recognition of mucocutaneous lesions will help in early diagnosis and better management of HIV/AIDS patients. PMID:23738406

  20. Mucocutaneous manifestations of helminth infections: Trematodes and cestodes.

    PubMed

    Lupi, Omar; Downing, Christopher; Lee, Michael; Bravo, Francisco; Giglio, Patricia; Woc-Colburn, Laila; Tyring, Stephen K

    2015-12-01

    In the 21st century, despite increased international travel for vacation, work, and medical missions and immigration into the United States, there is little published in the dermatology literature regarding the cutaneous manifestations of helminth infections. It has been estimated that 20% to 70% of international travelers suffer from some travel-related health problem. Approximately 17% of travelers seek medical care because of cutaneous disorders, many related to infectious etiologies. This review will focus on cutaneous diseases caused by helminth infections. Part I of the review focused on nematode infections; part II will focus on trematode and cestode infections. Nematodes are roundworms that cause diseases with cutaneous manifestations, such as cutaneous larval migrans, onchocerciasis, filariasis, gnathostomiasis, loiasis, dracunculiasis, strongyloidiasis, ascariasis, streptocerciasis, dirofilariasis, and trichinosis. Tremadotes, also known as flukes, cause schistosomiasis, paragonimiasis, and fascioliasis. Cestodes (tapeworms) are flat, hermaphroditic parasites that cause diseases such as sparganosis, cysticercosis, and echinococcus. PMID:26568338

  1. The neurological manifestations of dissecting aneurysm of the aorta

    PubMed Central

    Condon, John R.; Rose, F. Clifford

    1969-01-01

    Six cases of dissecting aneurysm of the aorta, four with cerebral manifestations, one with peripheral neuropathy and one with ischaemic necrosis of the spinal cord are reported. Cerebral manifestations include confusion and stupor, syncope, grand mal epilepsy, ischaemia of the spinal medulla, carotid artery occlusion and cerebral hemisphere infarction. Ischaemic neuropathy is characterized by severe limb pain not of peripheral nerve distribution, but associated with areflexia and a peripheral pattern of sensory loss. Ischaemic necrosis of the cord is characterized by flaccid paraplegia and sphincter disturbances with segmental sensory loss exhibiting an upper level on the trunk. The differential diagnosis of the neurological complications of aortic dissection is discussed and a brief review of advances in management made. ImagesFig. 1 PMID:5789681

  2. Manifestly gauge-covariant representation of scalar and fermion propagators

    NASA Astrophysics Data System (ADS)

    Latosiński, Adam

    2016-01-01

    A new way to write the massive scalar and fermion propagators on a background of a weak gauge field is presented. They are written in a form that is manifestly gauge covariant up to several additional terms that can be written as boundary terms in momentum space. These additional terms violate Ward-Takahashi identities and need to be renormalized by appropriate counterterms if the complete theory is to be gauge covariant. This form makes it possible to calculate many amplitudes in a manifestly gauge-covariant way (at the same time reducing the number of Feynman diagrams). It also allows one to express some counterterms in a way independent of the regularization scheme and provides an easy way to derive the anomalous term affecting the chiral current conservation.

  3. Extrahepatic immune related manifestations in chronic hepatitis C virus infection.

    PubMed

    Tampaki, Maria; Koskinas, John

    2014-09-21

    The association of chronic hepatitis C with immune related syndromes has been frequently reported. There is a great range of clinical manifestations affecting various systems and organs such as the skin, the kidneys, the central and peripheral nervous system, the musculoskeletal system and the endocrine glands. Despite the high prevalence of immune related syndromes in patients with chronic hepatitis C, the exact pathogenesis is not always clear. They have been often associated with mixed cryoglobulinemia, a common finding in chronic hepatitis C, cross reaction with viral antigens, or the direct effect of virus on the affected tissues. The aim of this review is to analyze the reported hepatitis C virus immune mediated syndromes, their prevalence and clinical manifestations and to discuss the most supported theories regarding their pathogenesis. PMID:25253938

  4. Progressive outer retinal necrosis: manifestation of human immunodeficiency virus infection.

    PubMed

    Lo, Phey Feng; Lim, Rongxuan; Antonakis, Serafeim N; Almeida, Goncalo C

    2015-01-01

    We present the case of a 54-year-old man who developed progressive outer retinal necrosis (PORN) as an initial manifestation of HIV infection without any significant risk factors for infection with HIV. PORN is usually found as a manifestation of known AIDS late in the disease. Our patient presented with transient visual loss followed by decrease in visual acuity and facial rash. Subsequent investigation revealed anterior chamber tap positive for varicella zoster virus (VZV), as well as HIV positivity, with an initial CD4 count of 48 cells/µL. Systemic and intravitreal antivirals against VZV, and highly active antiretroviral therapy against HIV were started, which halted further progression of retinal necrosis. This case highlights the importance of suspecting PORN where there is a rapidly progressive retinitis, and also testing the patient for HIV, so appropriate treatment can be started. PMID:25948844

  5. [Spectrum of renal manifestations in sickle cell disease].

    PubMed

    Cazenave, Maud; Koehl, Bérengère; Nochy, Dominique; Tharaux, Pierre-Louis; Audard, Vincent

    2014-02-01

    Sickle cell disease (SCD), the most common hemoglobinopathy, is an increasing cause of chronic kidney disease. In the last decade, we have witnessed a better understanding in the characterization of clinical manifestations and pathogenesis of sickle cell nephropathy. The spectrum of renal diseases during SCD includes various renal manifestations such as impairment of urinary concentrating ability, defect in urine acidification, renal papillary necrosis and proteinuria related to glomerular injury leading to progressive end-stage renal disease. Endothelial dysfunction related to chronic hemolysis and the relative renal hypoxia caused by vaso-occlusive sickle red blood cells are probably two key factors for SCN development. Optimal therapeutic management (including the use of blockers of the renin-angiotensin system) of patients with proteinuria remains to be determined. Renal replacement therapy with dialysis is required in SCD patients with end-stage renal disease but these patients should probably undergo kidney transplantation that requires careful management. PMID:24113202

  6. Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex

    PubMed Central

    Scheidt, Lisa; Sanabe, Mariane Emi

    2015-01-01

    ABSTRACT Epidermolysis bullosa (EB) is a group of hereditary chronic disorders, characterized by fragility of the skin and mucous membranes in response to minor mechanical trauma. The objective of this study was to report the case of a young girl diagnosed with epidermolysis bullosa simplex (EBS), transmitted by an autosomal dominant gene. Cutaneous findings included blisters and dystrophy following minimal friction. Recurrent blisters and vesicle formation on the hard palate were the main oral findings. In conclusion, publications concerning the oral and clinical manifestations of EBS are important for providing knowledge and an early multidisciplinary approach that prevents blister formation and improves these patients quality of life, with the dentist playing an important role in oral health management. How to cite this article: Scheidt L, Sanabe ME, Diniz MB. Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. Int J Clin Pediatr Dent 2015;8(3):239-241. PMID:26604545

  7. Extrahepatic immune related manifestations in chronic hepatitis C virus infection

    PubMed Central

    Tampaki, Maria; Koskinas, John

    2014-01-01

    The association of chronic hepatitis C with immune related syndromes has been frequently reported. There is a great range of clinical manifestations affecting various systems and organs such as the skin, the kidneys, the central and peripheral nervous system, the musculoskeletal system and the endocrine glands. Despite the high prevalence of immune related syndromes in patients with chronic hepatitis C, the exact pathogenesis is not always clear. They have been often associated with mixed cryoglobulinemia, a common finding in chronic hepatitis C, cross reaction with viral antigens, or the direct effect of virus on the affected tissues. The aim of this review is to analyze the reported hepatitis C virus immune mediated syndromes, their prevalence and clinical manifestations and to discuss the most supported theories regarding their pathogenesis. PMID:25253938

  8. Treatment of extraesophageal manifestations of gastroesophageal reflux disease.

    PubMed

    Mercer, C D

    1997-09-01

    Extraesophageal manifestations of gastroesophageal reflux disease (GERD) include chronic cough, asthma and 'acid' laryngitis. The response to medical and/or surgical therapy of these conditions is highly variable and often delayed. Of patients with GERD-related symptoms, those with extraesophageal manifestations are some of the most difficult to treat. Histamine antagonists, proton pump inhibitors and antireflux surgery have all been used to treat GERD-related asthma with variable results. Asthma patients who do not respond to high-dose acid suppression may be refractory to all forms of therapy. GERD is the third most common cause of chronic cough, and therapeutic results with acid suppression and antireflux surgery are variable. Posterior laryngitis presents as chronic hoarseness and has been shown to resolve clinically and histologically with acid suppression therapy or antireflux surgery. Results are variable, and controlled trials are lacking. PMID:9347189

  9. Neonatal lupus with atypical cardiac and cutaneous manifestation

    PubMed Central

    Morais, Sofia; Santos, Isabel Cristina; Pereira, Dolores Faria; Mimoso, Gabriela

    2013-01-01

    Neonatal lupus erythematosus is a rare, passively acquired autoimmune disease, caused by maternal autoantibodies. The most common manifestations are skin rash and congenital heart block. Cutaneous manifestations may be present at birth, but often develop within a few weeks after delivery. Congenital heart block may present as bradycardia in utero or during physical examination at birth. Approximately 4060% of mothers are asymptomatic when the infants are diagnosed. We present a case of a child, born with erythematosus lesions in the face, scalp, trunk, limbs and nodules/papules on the palmar and plantar surfaces. He also had hepatosplenomegaly and thrombocytopenia. Echocardiography showed hyperechoic lesions on the anterior papilar muscle of the left ventricle and on the lateral cusp of the tricuspid valve. The mother had unexplained fever and vasculitic lesions in her hands and feet. Antinuclear antibodies, anti-SSa/Ro and anti-SSb/La were positive in the mother and child, making the diagnosis of neonatal lupus. PMID:23839605

  10. A Rare Manifestation of Hypothyroid Myopathy: Hoffmann's Syndrome

    PubMed Central

    Lee, Kang Won; Kim, Kyoung Jin; Kim, Sang Hyun; Kim, Hee Young; Kim, Byung-Jo; Kim, Sin Gon; Choi, Dong Seop

    2015-01-01

    Hypothyroid myopathy is observed frequently and the resolution of the clinical manifestations of myopathy following thyroid hormone replacement is well known. However, a specific subtype of hypothyroid myopathy, Hoffmann's syndrome, characterized by increased muscular mass (pseudohypertrophy), proximal muscle weakness, muscle stiffness and cramps, is rarely reported. Herein, we describe a 34-year-old male who presented with proximal muscle weakness and non-pitting edema of the lower extremities. He initially visited the neurology department where he was suspected of having polymyositis. Additional laboratory evaluation revealed profound autoimmune hypothyroidism and elevated muscle enzymes including creatine kinase. The patient was started on levothyroxine treatment and, subsequently, clinical symptoms and biochemical parameters resolved with the treatment. The present case highlights that hypothyroidism should be considered in the differential diagnosis of musculoskeletal symptoms even in the absence of overt manifestations of hypothyroidism. To our knowledge, this is the first case reported in Korea. PMID:26394732

  11. Extra-Renal Manifestations of Complement-Mediated Thrombotic Microangiopathies

    PubMed Central

    Hofer, Johannes; Rosales, Alejandra; Fischer, Caroline; Giner, Thomas

    2014-01-01

    Thrombotic microangiopathies (TMA) are rare but severe disorders, characterized by endothelial cell activation and thrombus formation leading to hemolytic anemia, thrombocytopenia, and organ failure. Complement over activation in combination with defects in its regulation is described in an increasing number of TMA and if primary for the disease denominated as atypical hemolytic-uremic syndrome. Although TMA predominantly affects the renal microvasculature, extra-renal manifestations are observed in 20% of patients including involvement of the central nerve system, cardiovascular system, lungs, skin, skeletal muscle, and gastrointestinal tract. Prompt diagnosis and treatment initiation are therefore crucial for the prognosis of disease acute phase and the long-term outcome. This review summarizes the available evidence on extra-renal TMA manifestations and discusses the role of acute and chronic complement activation by highlighting its complex interaction with inflammation, coagulation, and endothelial homeostasis. PMID:25250305

  12. Oral manifestations of paracoccidioidomycosis. Report of 21 cases from Argentina.

    PubMed

    Godoy, H; Reichart, P A

    2003-01-01

    The present study describes 21 Argentinian patients living in the province of Corrientes, who had developed oral manifestations due to Paracoccidioides brasiliensis infection. Of these, 20 patients were men and one a woman. Patients were of an average age of 39 years (range 25 to 72 years). Approximately, 76.2% of the patients were farmers. Gingival lesions were observed in 76%. Also, the tongue (71%) and the lips (62%) were frequently affected. Cytological smears and histopathology showed the characteristic fungal cells with the characteristic granulomatous inflammatory reaction consisting of lymphocytes, epithelioid cells and giant cells of the Langhans type. All patients except one had detectable pulmonary involvement. Therapy consists of long-term administration of itraconazole. Oral manifestations of paracoccidioidomycosis are characteristic in their clinical presentation. Early diagnosis and adequate therapy may prevent extensive tissue destructions. Long-term follow-up is mandatory. PMID:14622391

  13. Rare dental manifestation in Simpson-Golabi-Behmel syndrome.

    PubMed

    Parashar, Pallavi; Preston, Sally; Brada, Brian; Borris, Thomas; Potter, Brad

    2016-01-01

    Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive overgrowth disorder with prominent craniofacial manifestations. Macrodontia is also an uncommon dental anomaly that can be an isolated finding and has been associated with numerous systemic conditions and syndromes. This case report describes this previously unreported dental anomaly, macrodontia, in a patient with SGBS, which may broaden the phenotype of this syndrome. A brief review of the literature on orofacial findings associated with SGBS is also presented. PMID:26742178

  14. Acute Hepatitis as a Manifestation of Parvovirus B19 Infection ?

    PubMed Central

    Hatakka, Aleisha; Klein, Julianne; He, Runtao; Piper, Jessica; Tam, Edward; Walkty, Andrew

    2011-01-01

    There are few reports in the literature of hepatitis as a manifestation of parvovirus B19 infection. We describe a case of parvovirus B19-associated acute hepatitis diagnosed based on a positive serologic test (IgM) and molecular detection of parvovirus B19 DNA in a liver biopsy specimen. Parvovirus B19 infection should be considered in the differential diagnosis of patients presenting with acute hepatitis. PMID:21734024

  15. Hot Spot Manifestation in Eclipsing Dwarf Nova HT Cassiopeiae

    NASA Astrophysics Data System (ADS)

    Bąkowska, K.; Olech, A.

    2014-09-01

    We report the detection of a hot spot in the light curves of the eclipsing dwarf nova HT Cas during its superoutburst in 2010 November. Analysis of the eight reconstructed light curves of the hot spot eclipses showed directly that the brightness of the hot spot was changing significantly during the superoutburst. Thereby, detected hot spot manifestation in HT Cas is the newest observational evidence for the EMT model for dwarf novae.

  16. Abdominal manifestations in childhood‐onset systemic lupus erythematosus

    PubMed Central

    Richer, O; Ulinski, T; Lemelle, I; Ranchin, B; Loirat, C; Piette, J C; Pillet, P; Quartier, P; Salomon, R; Bader‐Meunier, B

    2007-01-01

    Background Childhood‐onset lupus erythematosus is a rare disorder of unknown origin. Objectives To describe the frequency of gastrointestinal manifestations at presentation of systemic lupus erythematosus SLE and at follow‐up, and discuss the specific causes of these manifestations. Methods Medical records of 201 patients with childhood‐onset SLE followed up in French paediatric nephrological, haematological and rheumatological centres were reviewed and abstracted for gastrointestinal manifestations. Results Gastrointestinal involvement was recorded in 39 (19%) children. The median (range) age at the time of initial gastrointestinal manifestations was 11.3 (4.5–16) years. Gastrointestinal symptoms were present at or occurred within 1 month after diagnosis in 32% patients. Abdominal pain was the most frequent symptom, present in 34 (87%) patients. It was mostly related to lupus involvement, especially ascites (n = 14) and pancreatitis (n = 12), more rarely to treatment‐induced events (n = 1) or infection (n = 1) and never to events unrelated to SLE. Three children with surgical abdomen underwent a laparotomy before SLE was diagnosed, with a final diagnosis of lupus peritonitis and lupus acalculous cholecystitis. C reactive protein values were <40 mg/l in all but two patients who had surgical abdomen. Abdominal ultrasonography and computed tomography scans were abnormal in 58% and 83% of the evaluated patients, respectively. Corticosteroids, associated with intravenous cyclophospamide in eight patients, led to complete remission of gastrointestinal involvement in 30 of 31 treated patients. Conclusion Gastrointestinal involvement is common in children with SLE, and is mainly due to primary lupus involvement. Corticoidsteroid treatment should be promptly considered in children with lupus presenting with abdominal pain after infectious disease; side effects of treatment and intestinal perforation have been excluded. PMID:16818463

  17. [Hepatic abscess as first manifestation of pneumococcal invasive disease].

    PubMed

    Gilardi, Leonardo; Eugenia Dellepiane, Mara

    2011-08-01

    Pneumococcal invasive disease is an important cause of morbidity and mortality in different population groups. Most cases originate from an airway infection. We describe a patient with diabetes mellitus who presented a liver abscess as first manifestation of pneumococcal invasive disease, without respiratory symptoms. The patient was treated with percutaneous drainage and systemic antibiotics with good results. Streptococcus pneumoniae should be considered among the possible etiologies of hepatic abscess, even in absence of respiratory symptoms. PMID:22052406

  18. Interstitial granulomatous dermatitis: rare cutaneous manifestation of rheumatoid arthritis*

    PubMed Central

    Veronez, Isis Suga; Dantas, Fernando Luiz; Valente, Neusa Yuriko; Kakizaki, Priscila; Yasuda, Thas Helena; Cunha, Thas do Amaral

    2015-01-01

    Besides being an uncommon clinicopathological entity, interstitial granulomatous dermatitis, also described as interstitial granulomatous dermatitis with arthritis (IGDA), has shown a wide spectrum of clinical manifestations, such as linear and erythematous lesions, papules, plaques and nodules. Histological features include dense dermal histiocytic infiltrate, usually in a palisade configuration, and scattered neutrophils and eosinophils. We describe a middle aged woman with rheumatoid arthritis of difficult management and cutaneous lesions compatible with IGDA. PMID:26131871

  19. Arrhythmia as a cardiac manifestation in MELAS syndrome?

    PubMed Central

    Thomas, Tamara; Craigen, William J.; Moore, Ryan; Czosek, Richard; Jefferies, John L.

    2015-01-01

    A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial tachycardia, a finding not been previously described in this population. This unique case of MELAS syndrome demonstrates the known associated cardiac manifestation of LVH and the new finding of atrial tachycardia which may represent the potential for subclinical arrhythmia in this population.

  20. The Gastrointestinal Manifestations of Telomere-Mediated Disease

    PubMed Central

    Jonassaint, Naudia L.; Guo, Nini; Califano, Joseph A.; Montgomery, Elizabeth A.; Armanios, Mary

    2013-01-01

    Summary Defects in telomere maintenance genes cause pathological telomere shortening, and manifest in syndromes which have prominent phenotypes in tissues of high turnover: the skin and bone marrow. Because the gastrointestinal (GI) epithelium has rapid turnover, we sought to determine whether telomere syndromes cause GI disease, and to define its prevalence, spectrum and natural history. We queried subjects in the Johns Hopkins Telomere Syndrome Registry for evidence of luminal GI disease. In sixteen percent of Registry subjects (6 of 38), there was a history of significant GI pathology, and 43 additional cases were identified in the literature. Esophageal stenosis, enteropathy and enterocolitis were the recurrent findings. In the intestinal mucosa, there was striking villous atrophy, extensive apoptosis, and anaphase bridging pointing to regenerative defects in the epithelial compartment. GI disease was often the first and most severe manifestation of telomere disease in young children. These findings indicate that telomere dysfunction disrupts the epithelial integrity in the human GI tract manifesting in recognizable disease processes. A high index of suspicion should facilitate diagnosis and management. PMID:23279657

  1. Pulmonary manifestations of Birt-Hogg-Dubé syndrome

    PubMed Central

    Seyama, Kuniaki; McCormack, Francis X.

    2015-01-01

    Birt-Hogg-Dubé syndrome (BHD) is a rare, autosomal dominant disorder characterized by the development of hair follicle tumors, renal tumors and pulmonary cysts. BHD is caused by heterozygous, predominantly truncating mutations in the folliculin (FLCN) gene located on chromosome 17, which encodes a highly conserved tumor suppressor protein. Although management of renal tumors of low malignant potential is the primary focus of longitudinal care, pulmonary manifestations including cyst formation and spontaneous pneumothorax are among the most common manifestations in BHD. Due to the lack of awareness, there is commonly a delay in the pulmonary diagnosis of BHD and patients are frequently mislabeled as having chronic obstructive lung disease, emphysema or common bullae/blebs. A family history of pneumothorax is present in 35 % of patients with BHD. Certain imaging characteristics of the cysts, including size, basilar and peripheral predominance, perivascular and periseptal localization, and elliptical or lentiform shape can suggest the diagnosis of BHD based on inspection of the chest CT scan alone. Recurrent pneumothoraces are common and early pleurodesis is recommended. A better understanding of role of FLCN in pulmonary cyst formation and long term studies to define the natural history of the pulmonary manifestations of BHD are needed. PMID:23715758

  2. Endocrine manifestations and management of Prader-Willi syndrome

    PubMed Central

    2013-01-01

    Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. In infancy it is characterized by hypotonia with poor suck resulting in failure to thrive. As the child ages, other manifestations such as developmental delay, cognitive disability, and behavior problems become evident. Hypothalamic dysfunction has been implicated in many manifestations of this syndrome including hyperphagia, temperature instability, high pain threshold, sleep disordered breathing, and multiple endocrine abnormalities. These include growth hormone deficiency, central adrenal insufficiency, hypogonadism, hypothyroidism, and complications of obesity such as type 2 diabetes mellitus. This review summarizes the recent literature investigating optimal screening and treatment of endocrine abnormalities associated with PWS, and provides an update on nutrition and food-related behavioral intervention. The standard of care regarding growth hormone therapy and surveillance for potential side effects, the potential for central adrenal insufficiency, evaluation for and treatment of hypogonadism in males and females, and the prevalence and screening recommendations for hypothyroidism and diabetes are covered in detail. PWS is a genetic syndrome in which early diagnosis and careful attention to detail regarding all the potential endocrine and behavioral manifestations can lead to a significant improvement in health and developmental outcomes. Thus, the important role of the provider caring for the child with PWS cannot be overstated. PMID:23962041

  3. Endocrine manifestations and management of Prader-Willi syndrome.

    PubMed

    Emerick, Jill E; Vogt, Karen S

    2013-01-01

    Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. In infancy it is characterized by hypotonia with poor suck resulting in failure to thrive. As the child ages, other manifestations such as developmental delay, cognitive disability, and behavior problems become evident. Hypothalamic dysfunction has been implicated in many manifestations of this syndrome including hyperphagia, temperature instability, high pain threshold, sleep disordered breathing, and multiple endocrine abnormalities. These include growth hormone deficiency, central adrenal insufficiency, hypogonadism, hypothyroidism, and complications of obesity such as type 2 diabetes mellitus. This review summarizes the recent literature investigating optimal screening and treatment of endocrine abnormalities associated with PWS, and provides an update on nutrition and food-related behavioral intervention. The standard of care regarding growth hormone therapy and surveillance for potential side effects, the potential for central adrenal insufficiency, evaluation for and treatment of hypogonadism in males and females, and the prevalence and screening recommendations for hypothyroidism and diabetes are covered in detail. PWS is a genetic syndrome in which early diagnosis and careful attention to detail regarding all the potential endocrine and behavioral manifestations can lead to a significant improvement in health and developmental outcomes. Thus, the important role of the provider caring for the child with PWS cannot be overstated. PMID:23962041

  4. Manifestation of heliophysical disturbances in the tropospheric characteristics

    NASA Astrophysics Data System (ADS)

    Rubtsova, O. A.; Kovalenko, V. A.; Molodykh, S. I.

    2009-12-01

    The response of the thermobaric characteristics of the high-latitude troposphere to short-term events attributed to solar activity (solar cosmic rays and geomagnetic storms) has been investigated. The spatial manifestation of these disturbances in the troposphere is shown to be of a focal character. It is found that the manifestation is most evident in the cold period and depends on the properties of the underlying surface (land, ocean). The properties of the variations of the troposphere air temperature in the manifestation foci on the standard isobaric surfaces, as well as the variations of the altitude profile of temperature and the long-wave radiation flux at the upper boundary of the atmosphere, have been considered. The variations of the heat content of the high-latitude troposphere after solar flares have been analyzed. The variation of the thermobaric field is shown to be accompanied by the rearrangement of circulation forms in moderate and polar latitudes. The revealed properties are completely explained within the mechanism proposed here for the solar activity effect on the climatic characteristics of the troposphere.

  5. Pulmonary and extra-pulmonary manifestations of sarcoidosis

    PubMed Central

    Tavana, Sasan; Alizadeh, Masoumeh; Mohajerani, Seyed Amir; Hashemian, Seyed Mohammadreza

    2015-01-01

    Background: Sarcoidosis is a systemic multi-organ granulomatous disease of unknown etiology that is characterized by the presence of granuloma in various organs. The clinical features of sarcoidosis are heterogeneous but pulmonary involvement is cardinal manifestations. The aim of this study was to determine radiologic, clinical and laboratory findings of patients with sarcoidosis. Patients and Methods: In a cross-sectional study, all patients visiting sarcoidosis clinic were enrolled in the study. Computed tomography (CT) scan was obtained and lab exams were obtained from patient and reports were recorded in data sheet. Results: Total of 55 patients with sarcoidosis were enrolled in the study. The average of age was 44.6 (range 25-62) years. Thirty-seven patients were male and 18 were female. The most common extra-pulmonary manifestation was arthritis (in 18% of cases) and then lupus pernio (12.8%) and uveitis (10.9%). Bilateral hilar adenopathy and para tracheal lymphadenopathy was observed in 39(70%) and 22 (40%) of patients. Parenchymal nodules (30%), bronchiectasia (25%), ground-glass opacification (18%) were the most common findings. Percentages of patients with dyspnea were 29% and percentages of patients with cough were 21%. Among abnormal lab tests, high urine calcium (Ca) were positive in 21% and high angiotensin-converting enzyme (ACE) in 16% of patients. Conclusion: Pulmonary involvements are both fibrosis and granulomatosis and the most common manifestations are parenchymal nodules, bronchiectasia and high-grade fibrosis. The most common extra-pulmonary involvement is arthritis. Lab tests are non-specific and have no correlation with duration or severity of disease. PMID:26759510

  6. Pulmonary manifestations in systemic lupus erythematosus: Association with disease activity

    PubMed Central

    Alamoudi, Omer SB; Attar, Suzan M

    2015-01-01

    Background and objective Although systemic lupus erythematosus (SLE) is the most common connective tissue disease affecting the lung, few studies have assessed risk factors that predict pulmonary manifestations. The objectives of the present study were to determine the prevalence of lung manifestations in SLE patients from Western Saudi Arabia by analysing results from high-resolution computed tomography (HRCT) scans and to identify independent risk factors for lung involvement. Methods This was a 10-year retrospective study involving 184 SLE patients. We examined all HRCT lung abnormalities and determined whether findings were associated with the presence of lupus nephritis (LN), SLE disease activity (as defined by SLE Disease Activity Index 2000 item scores ?4 for any and all items) or levels of complement and anti-double-stranded DNA (anti-dsDNA). Results We identified 61 patients (33%) with pulmonary involvement, and 52 (85%) of these subjects showed HRCT abnormalities. The most common HRCT findings were pleural effusion, consolidation and atelectasis (58%, 42% and 42%, respectively). There was a significant association between abnormal HRCT results and hypocomplementemia, high levels of anti-dsDNA and disease activity (P < 0.05), particularly with regard to pleuropericardial effusion and consolidation. Pulmonary abnormalities were significantly higher within the first five years after SLE diagnosis (P < 0.001). However, neither disease duration nor LN was associated with increased risk. Conclusions Lung manifestations were frequent in SLE patients from Saudi Arabia, with pleural effusion, consolidation and atelectasis being the most common. Low complement levels, high anti-dsDNA levels and disease activity were significantly associated with abnormal HRCT findings (all P < 0.001). PMID:25639532

  7. Ionospheric manifestations of earthquakes and tsunamis in a dynamic atmosphere

    NASA Astrophysics Data System (ADS)

    Godin, Oleg A.; Zabotin, Nikolay A.; Zabotina, Liudmila

    2015-04-01

    Observations of the ionosphere provide a new, promising modality for characterizing large-scale physical processes that occur on land and in the ocean. There is a large and rapidly growing body of evidence that a number of natural hazards, including large earthquakes, strong tsunamis, and powerful tornadoes, have pronounced ionospheric manifestations, which are reliably detected by ground-based and satellite-borne instruments. As the focus shifts from detecting the ionospheric features associated with the natural hazards to characterizing the hazards for the purposes of improving early warning systems and contributing to disaster recovery, it becomes imperative to relate quantitatively characteristics of the observed ionospheric disturbances and the underlying natural hazard. The relation between perturbations at the ground level and their ionospheric manifestations is strongly affected by parameters of the intervening atmosphere. In this paper, we employ the ray theory to model propagation of acoustic-gravity waves in three-dimensionally inhomogeneous atmosphere. Huygens' wavefront-tracing and Hamiltonian ray-tracing algorithms are used to simulate propagation of body waves from an earthquake hypocenter through the earth's crust and ocean to the upper atmosphere. We quantify the influence of temperature stratification and winds, including their seasonal variability, and air viscosity and thermal conductivity on the geometry and amplitude of ionospheric disturbances that are generated by seismic surface waves and tsunamis. Modeling results are verified by comparing observations of the velocity fluctuations at altitudes of 150-160 km by a coastal Dynasonde HF radar system with theoretical predictions of ionospheric manifestations of background infragravity waves in the ocean. Dynasonde radar systems are shown to be a promising means for monitoring acoustic-gravity wave activity and observing ionospheric perturbations due to earthquakes and tsunamis. We will discuss the effects of the background ionospheric disturbances and uncertainty in atmospheric parameters on the feasibility and accuracy of retrieval of the open-ocean tsunami heights from observations of the ionosphere.

  8. Chronic hyponatremia exacerbates multiple manifestations of senescence in male rats.

    PubMed

    Barsony, Julia; Manigrasso, Michaele B; Xu, Qin; Tam, Helen; Verbalis, Joseph G

    2013-04-01

    The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is frequently responsible for chronic hyponatremia in the elderly due to age-related disruption of the inhibitory component of brain osmoregulatory mechanisms. Recent research has indicated that chronic hyponatremia is associated with gait disturbances, increased falls, and bone fragility in humans, and we have found that chronic hyponatremia causes increased bone resorption and reduced bone mineral density in young rats. In this study, we used a model of SIADH to study multi-organ consequences of chronic hyponatremia in aged rats. Sustained hyponatremia for 18 weeks caused progressive reduction of bone mineral density by DXA and decreased bone ash calcium, phosphate and sodium contents at the tibia and lumbar vertebrae. Administration of 10-fold higher vitamin D during the last 8 weeks of the study compensated for the reduction in bone formation and halted bone loss. Hyponatremic rats developed hypogonadism, as indicated by slightly lower serum testosterone and higher serum FSH and LH concentrations, markedly decreased testicular weight, and abnormal testicular histology. Aged hyponatremic rats also manifested decreased body fat, skeletal muscle sarcopenia by densitometry, and cardiomyopathy manifested as increased heart weight and perivascular and interstitial fibrosis by histology. These findings are consistent with recent results in cultured osteoclastic cells, indicating that low extracellular sodium concentrations increased oxidative stress, thereby potentially exacerbating multiple manifestations of senescence. Future prospective studies in patients with SIADH may indicate whether these multi-organ age-related comorbidities may potentially contribute to the observed increased incidence of fractures and mortality in this population. PMID:22218780

  9. [Still disease in adults revealed by a digestive manifestation].

    PubMed

    Dominguez, S; Grangé, J D; Amiot, X; Denis, M; Guillevin, L; Bodin, F

    1995-12-01

    Adult Still's disease is characterized by typical spiking fever, oligopolyarthritis, neutrophilic leukocytosis and involvement of various organs. We report a case which illustrated typical digestive features of Still's disease as dysphagia, peritonitis and manifests the hitherto unreported complication of gastric ulcerations. Treatment with prednisone was started in order to control arthritis, resulting in improvement of both gastric ulcerations (partially resistant to omeprazole treatment) and arthralgia. After seven years of follow-up, the patient remains clinically and biochemically stable with steroid and methotrexate treatment. PMID:8729419

  10. Osteoskeletal manifestations of scurvy: MRI and ultrasound findings.

    PubMed

    Polat, Ahmet Veysel; Bekci, Tumay; Say, Ferhat; Bolukbas, Emrah; Selcuk, Mustafa Bekir

    2015-08-01

    Scurvy has become very rare in the modern world. The incidence of scurvy in the pediatric population is extremely low. In the pediatric population, musculoskeletal manifestations are more common and multiple subperiosteal hematomas are an important indicator for the diagnosis of scurvy. Although magnetic resonance imaging findings of scurvy are well described in the literature, to our knowledge, ultrasound findings have not yet been described. In this article, we report a case of scurvy with associated magnetic resonance imaging and ultrasound findings. PMID:25597047

  11. Infectious cutaneous manifestations of HIV infection in children.

    PubMed

    Rennert, Wolfgang P

    2005-11-01

    Cutaneous infections that can also be seen in immunocompetent patients tend to occur early in the course of HIV infection in children. The level of suspicion for the presence of HIV is elevated when these infections are manifested in extensive distributions, at unusual ages of the patient, or with unexpected severity or have a poor response to therapy. With progressive deterioration of the immune system, cutaneous infections become more specific and include organisms or disease patterns typically not seen in immunocompetent children. PMID:16323304

  12. Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation.

    PubMed

    Varol, Sefer; Ozdemir, Hasan Huseyin; Akil, Esref; Arslan, Demet; Aluclu, M Ufuk; Demir, Caner F; Yucel, Yavuz

    2015-12-01

    Objective Facial diplegia (FD) is a rare neurological manifestation with diverse causes. This article aims to systematically evaluate the etiology, diagnostic evaluation and treatment of FD. Method The study was performed retrospectively and included 17 patients with a diagnosis of FD. Results Patients were diagnosed with Guillain-Barr syndrome (GBS) (11), Bickerstaff's brainstem encephalitis (1), neurosarcoidosis (1), non-Hodgkin's Lymphoma (1), tuberculous meningitis (1) herpes simplex reactivation (1) and idiopathic (1). In addition, two patients had developed FD during pregnancy. Conclusion Facial diplegia is an ominous symptom with widely varying causes that requires careful investigation. PMID:26677119

  13. Automated Detection of Anomalous Shipping Manifests to Identify Illicit Trade

    SciTech Connect

    Sanfilippo, Antonio P.; Chikkagoudar, Satish

    2013-11-12

    We describe an approach to analyzing trade data which uses clustering to detect similarities across shipping manifest records, classification to evaluate clustering results and categorize new unseen shipping data records, and visual analytics to provide to support situation awareness in dynamic decision making to monitor and warn against the movement of radiological threat materials through search, analysis and forecasting capabilities. The evaluation of clustering results through classification and systematic inspection of the clusters show the clusters have strong semantic cohesion and offer novel ways to detect transactions related to nuclear smuggling.

  14. Cutaneous manifestations of end-stage renal disease.

    PubMed

    Robinson-Bostom, L; DiGiovanna, J J

    2000-12-01

    Examination of the skin and nails can reveal many abnormalities in patients with end-stage renal disease that precede or follow initiation of dialysis treatment or kidney transplantation. This article focuses on specific and nonspecific cutaneous signs of end-stage renal disease, reviewing both banal and life-threatening conditions, including pruritus, perforating disorders, calcifying disorders, and bullous dermatoses. The pathogenesis, clinical findings, histologic findings, differential diagnosis, and treatment of these diseases are discussed. Cutaneous manifestations unique to kidney transplantation will not be covered. (J Am Acad Dermatol 2000;43:975-86.) PMID:11100013

  15. Ocular manifestations in a child with systemic brucellosis

    PubMed Central

    Mohammadi, Zahra; Dehghani, Alireza; Ghanbari, Heshmat Ollah; Akhlaghi, Mohammad Reza; Nasrollahi, Kobra; Salam, Hasan

    2014-01-01

    Brucellosis is a zoonotic disease with widespread prevalence. It presents with in various range and often with the presence of non-specific clinical signs and symptoms. Brucellosis also may cause different manifestations in eyes such as uveitis, keratitis, conjunctivitis and neuro-ophthalmic defects. Ocular brucellosis is rare among children. Herein, we present a 7-year-old girl with systemic and ocular brucellosis. After treatment with systemic steroid and antibiotics, her signs and symptoms disappeared. Since early treatment is important in preventing permanent visual loss and the other complications of ocular brucellosis, examination of the eyes in brucellosis patients must always be noticed by clinicians working in this field. PMID:25364370

  16. Central nervous system manifestations of Angiostrongylus cantonensis infection.

    PubMed

    Martins, Yuri C; Tanowitz, Herbert B; Kazacos, Kevin R

    2015-01-01

    Over 20 species of Angiostrongylus have been described from around the world, but only Angiostrongylus cantonensis has been confirmed to cause central nervous system disease in humans. A neurotropic parasite that matures in the pulmonary arteries of rats, A. cantonensis is the most common cause of eosinophilic meningitis in southern Asia and the Pacific and Caribbean islands. The parasite can also cause encephalitis/encephalomyelitis and rarely ocular angiostrongyliasis. The present paper reviews the life cycle, epidemiology, pathogenesis, clinical features, diagnosis, treatment, prevention and prognosis of A. cantonesis infection. Emphasis is given on the spectrum of central nervous system manifestations and disease pathogenesis. PMID:25312338

  17. Oral mucosal manifestations in some genodermatoses: correlation with cutaneous lesions.

    PubMed

    Nico, Marcello Menta Simonsen; Hammerschmidt, Mariana; Lourenço, Silvia Vanessa

    2013-01-01

    The clinical picture of several genetic skin diseases may include the presence of oral mucosal lesions. These manifestations, however, have not been granted much attention in most dermatological publications. In this article, we fully review the oral mucosal lesions of tuberous sclerosis, dyskeratosis congenita, lipoidoproteinosis, Cowden disease, Darier's disease and pachyonychya congenita and compare these with their respective cutaneous lesions. Some dental aspects are discussed as well. This unifying approach may allow a better understanding of these oral lesions, avoiding obscure nomenclature and classification. PMID:24001555

  18. Hiccups, eructation, and other uncommon prodromal manifestations of herpes zoster.

    PubMed

    Berlin, Alexander L; Muhn, Channy Y; Billick, Robin C

    2003-12-01

    Although the most frequent presentation of herpes zoster involves sensory neurons, motor and autonomic symptomatology is also known to occur in this disease. An unusual symptom of hiccups is described here. Other infrequent manifestations of this common illness, including the Ramsay Hunt syndrome, herpes zoster ophthalmicus, urinary and fecal retention, sexual dysfunction, and zoster sine herpete, are reviewed. Greater awareness of unusual presentations of herpes zoster is necessary for proper diagnosis and timely management of complications that may otherwise lead to disability and serious long-term sequelae. PMID:14639397

  19. Manifestations bucco-dentaires de la sclrodermie systmique

    PubMed Central

    Salem, Bouomrani; Rim, Bel Hadj Ali; Sihem, Ben Khoud; Maher, Bji

    2013-01-01

    Nous rapportons l'observation d'une jeune femme de 26 ans ayant une sclrodermie systmique diffuse prsentant une atteinte bucco-dentaire complexe: microstomie, hyperplasie gingivale, parodontite, dpts tartriques, caries multiples et chevauchement dentaire antro-infrieur. Nous discuterons travers cette observation les manifestations bucco-dentaires de cette connectivite qui sont loin dtre rares mais souvent ngliges par les cliniciens malgr leur retentissement fonctionnel majeur. Il convient de surveiller rgulirement ltat bucco-dentaire chez tout patient sclrodermique afin de diagnostiquer prcocement ces atteintes. Diagnostiques un stade tardif les complications bucco-dentaires de la sclrodermie seront trs difficiles traiter. PMID:24778751

  20. Peripheral Nervous System Manifestations in Systemic Autoimmune Diseases

    PubMed Central

    COJOCARU, Inimioara Mihaela; COJOCARU, Manole; SILOSI, Isabela; VRABIE, Camelia Doina

    2014-01-01

    The peripheral nervous system refers to parts of the nervous system outside the brain and spinal cord. Systemic autoimmune diseases can affect both the central and peripheral nervous systems in a myriad of ways and through a heterogeneous number of mechanisms leading to many different clinical manifestations. As a result, neurological complications of these disorders can result in significant morbidity and mortality. The most common complication of peripheral nervous system (PNS) involvement is peripheral neuropathy, with symptoms of numbness, sensory paresthesias, weakness, or gait imbalance. The neuropathy may be multifocal and asymmetric or, less frequently, distal and symmetric. PMID:25705295

  1. [Pathogenesis and clinical manifestations of sporadic cerebral small vessel disease].

    PubMed

    Staszewski, Jacek; Piusi?ska-Macoch, Renata; Skrobowska, Ewa; Pawlik, Rafa?; Brodacki, Bogdan; St?pie?, Adam

    2015-12-01

    Sporadic small vessel disease (sSVD) is one of the most common vascular disease of the central nervous system (CNS). It is the main cause of lacunar stokes, hemorrhages to deep brain regions and chronic CNS diseases such as vascular parkinsonism and dementia. Beside a high and growing incidence of sSVD especially in the elderly population, the knowledge of ethiopathogenesis and optimal treatment of sSVD have not been established. The article summarizes different clinical manifestations (acute and chronic) as well as heterogenous radiologic changes found in CNS neuroimaging. PMID:26802696

  2. Chromosomal and Multifactorial Genetic Disorders with Oral Manifestations

    PubMed Central

    Patil, Shankargouda; Rao, Roopa S; Majumdar, Barnali

    2014-01-01

    The chromosomal disorders are individually rare, but collectively they are common whereas the multifactorial disorders are the most common form of genetic disorders. The chromosomal anomalies typically arise from alterations in the DNA containing chromosomal regions and can be reliably detected by karyotype analysis, whereas the multifactorial disorders demonstrate multi-gene as well as environmental interactions. Both the chromosomal and multifactorial disorders may manifest signs and symptoms such as a combination of birth defects, physical disabilities, challenging behavior and certain craniofacial defects as well, the knowledge of which can aid in a better patient management in everyday practice of dentistry. PMID:25395808

  3. Vasculitis: an unusual manifestation in an HIV-infected patient.

    PubMed

    Manuel, Ana; Victrio, Tnia; Gomes, Constana; Martins, Telmo; Dias Neto, Antnio

    2015-01-01

    Human immunodeficiency virus (HIV) positive patients may develop vasculitis, either mediated by immunological factors or by direct vascular injury. We describe a patient who developed manifestations suggestive of extremities vasculitis with no identifiable risk factors other than HIV, Epstein Barr and Herpes Simplex Virus (HSV) type 1 co-infection. Physicians should be aware that vasculitis may have a heterogeneous presentation and occur associated with HIV infection. Although unusual, this association should be recognized for early proper treatment and prevention of ischemia. PMID:26070539

  4. Spastic foot-drop as an isolated manifestation of neurocysticercosis

    PubMed Central

    Sahu, Ritesh; Garg, Ravindra Kumar; Malhotra, Hardeep Singh; Lalla, Rakesh

    2012-01-01

    Foot-drop is a rare but important manifestation of intracranial pathologies ranging from space-occupying lesions to cerebrovascular accidents. Being most commonly associated with peripheral nerve lesions or radicular compressions, it remains an underappreciated feature of central-structural abnormalities. We describe an interesting case of a 14-year-old boy who had presented with acute onset right-sided foot-drop due to a left-sided parasagittal neurocysticercus lesion, without seizures and discuss the location of the lesion in the precentral area in reference to Penfield's motor homunculus. PMID:23008377

  5. Tuberous sclerosis with oral manifestations: A rare case report

    PubMed Central

    Sodhi, SPS; Dang, Ramandeep Singh; Brar, Gursimrat

    2016-01-01

    Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome, inherited as an autosomal dominant trait with a high incidence of sporadic cases and protean clinical expression, with a incidence of prevalence between 1 in 10,000 and 1 in 170,000. The cardinal features of TSC are skin lesions, convulsive seizures, and mental retardation. We report a sporadically occurring case of definite TSC in a young female who presented with oral and cutaneous manifestations without mental retardation or history of convulsive seizures, which to the best of our knowledge has not been reported so far. PMID:26958526

  6. An alternative NMSSM phenomenology with manifest perturbative unification

    SciTech Connect

    Hall, Lawrence; Barbieri, Riccardo; Pappadopulo, Duccio; Rychkov, Vyacheslav S.; Hall, Lawrence J.; Papaioannou, Anastasios Y.

    2007-12-18

    Can supersymmetric models with a moderate stop mass be made consistent with the negative Higgs boson searches at LEP, while keeping perturbative unification manifest? The NMSSM achieves this rather easily, but only if extra matter multiplets filling complete SU(5) representations are present at intermediate energies. As a concrete example which makes use of this feature, we give an analytic description of the phenomenology of a constrained NMSSM close to a Peccei-Quinn symmetry point. The related pseudo-Goldstone boson appears in decays of the Higgs bosons and possibly of the lightest neutralino, and itself decays into (b anti-b) and (tau anti-tau).

  7. Dermatological manifestations of stress in normal and psychiatric populations.

    PubMed

    Rodriguez-Vallecillo, Edgardo; Woodbury-Faria, Michel A

    2014-12-01

    This article explores the way stress affects the skin, both at the molecular level, where the skin has an intricate connection to the neurocutaneous and immune systems, and at the clinical level. The concept of psychodermatology is reviewed with regard to the way skin reacts to stress, how stress is a trigger for several common skin diseases, and how neuropsychiatric disorders may have skin manifestations. The article is directed at making the dermatologist, the psychiatrist, the psychologist, and the primary physician familiar with the brain-skin mechanisms involved in stress and the resultant clinical expressions on the skin. PMID:25455069

  8. Cutaneous necrotizing vasculitis as a manifestation of familial Mediterranean fever.

    PubMed

    Komatsu, Shigetsuna; Honma, Masaru; Igawa, Satomi; Tsuji, Hitomi; Ishida-Yamamoto, Akemi; Migita, Kiyoshi; Ida, Hiroaki; Iizuka, Hajime

    2014-09-01

    Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease, which is characterized by recurrent and paroxysmal fever, peritonitis, arthritis, myalgia, and skin rashes. Although various skin lesions such as "erysipelas-like erythema", urticaria, nonspecific purpura, and subcutaneous nodules have been described, cutaneous vasculitis is rare. We report a Japanese case of sporadic FMF accompanied by cutaneous arteritis at the time of febrile attacks of FMF. Gene analysis revealed M694I mutation in a single allele of the MEFV gene, and oral colchicine successfully controlled both periodic fever and subcutaneous nodules of arteritis. Cutaneous necrotizing vasculitis repeatedly emerging with febrile attacks should be included among the skin manifestations of FMF. PMID:25109905

  9. Central nervous system manifestations of Angiostrongylus cantonensis infection

    PubMed Central

    Martins, Yuri C.; Tanowitz, Herbert B.; Kazacos, Kevin R.

    2014-01-01

    Over 20 species of Angiostrongylus have been described from around the world, but only Angiostrongylus cantonensis has been confirmed to cause central nervous system disease in humans. A neurotropic parasite that matures in the pulmonary arteries of rats, A. cantonensis is the most common cause of eosinophilic meningitis in southern Asia and the Pacific and Caribbean islands. The parasite can also cause encephalitis/encephalomyelitis and rarely ocular angiostrongyliasis. The present paper reviews the life cycle, epidemiology, pathogenesis, clinical features, diagnosis, treatment, prevention and prognosis of A. cantonesis infection. Emphasis is given on the spectrum of central nervous system manifestations and disease pathogenesis. PMID:25312338

  10. Extraparenchymal (Racemose) Neurocysticercosis and Its Multitude Manifestations: A Comprehensive Review

    PubMed Central

    Mehta, Anish; Rangasetty, Srinivasa

    2015-01-01

    Neurocysticercosis is an infection of the central nervous system caused by the larval form of the pork tapeworm Taenia solium. In the brain it occurs in two forms: parenchymal and extraparenchymal or racemose cysts. The clinical presentation of racemose cysts is pleomorphic, and is quite different from parenchymal cysticercosis. The clinical diagnosis of racemose cysts is quite challenging, with neuroimaging being the mainstay. However, the advent of newer brain imaging modalities has made a more accurate diagnosis possible. The primary focus of this article is racemose neurocysticercosis and its multitude manifestations, and includes a discussion of the newer diagnostic modalities and treatment options. PMID:26022457

  11. Subacute aseptic meningitis as neurological manifestation of primary Sjgren's syndrome.

    PubMed

    Rossi, Rosario; Valeria Saddi, Maria

    2006-10-01

    Sjgren's syndrome (SS) is an autoimmune disease characterized by inflammatory infiltration and secondary chronic dysfunction of exocrine glands. Systemic (extraglandular) manifestations of the disease occur in one-third of the patients, including a wide spectrum of peripheral and central neurological disorders. We report a case of subacute afebrile aseptic meningitis (AM) as neurological manifestation of primary SS. The neurological symptomatology presented gradual onset and progression, including diplopia, mild headache, pain and stiffness of the neck. The clinical examination pointed out xerostomia and xerophthalmia. Diagnosis of SS was confirmed by Schirmer's tear test and histopathology of the labial salivary glands. The neurological involvement was highlighted by gadolinium-enhanced magnetic resonance imaging of the brain which displayed an increased diffuse leptomeningeal enhancement. Cerebrospinal fluid (CSF) analysis showed moderate pleocytosis with prevalence of polymorphonuclear leukocytes and increased protein level but no evidence of Ig intrathecal synthesis. A cycle of intravenous steroid therapy led to a complete disappearance of the neurological symptomatology and to normalization of the CSF inflammatory pattern. Given the unusual presentation of this case of AM, which resembled the characteristics of a chronic meningitis rather than those of an acute form, in patients affected by SS we must stress the importance of cephalic symptoms such as headaches and cervical stiffness (even if mild and without fever) as possible signs of central neurological involvement of the disease. PMID:16054750

  12. Neural manifestations of implicit self-esteem: an ERP study.

    PubMed

    Wu, Lili; Cai, Huajian; Gu, Ruolei; Luo, Yu L L; Zhang, Jianxin; Yang, Jing; Shi, Yuanyuan; Ding, Lei

    2014-01-01

    Behavioral research has established that humans implicitly tend to hold a positive view toward themselves. In this study, we employed the event-related potential (ERP) technique to explore neural manifestations of positive implicit self-esteem using the Go/Nogo association task (GNAT). Participants generated a response (Go) or withheld a response (Nogo) to self or others words and good or bad attributes. Behavioral data showed that participants responded faster to the self paired with good than the self paired with bad, whereas the opposite proved true for others, reflecting the positive nature of implicit self-esteem. ERP results showed an augmented N200 over the frontal areas in Nogo responses relative to Go responses. Moreover, the positive implicit self-positivity bias delayed the onset time of the N200 wave difference between Nogo and Go trials, suggesting that positive implicit self-esteem is manifested on neural activity about 270 ms after the presentation of self-relevant stimuli. These findings provide neural evidence for the positivity and automaticity of implicit self-esteem. PMID:25006966

  13. Neural Manifestations of Implicit Self-Esteem: An ERP Study

    PubMed Central

    Wu, Lili; Cai, Huajian; Gu, Ruolei; Luo, Yu L. L.; Zhang, Jianxin; Yang, Jing; Shi, Yuanyuan; Ding, Lei

    2014-01-01

    Behavioral research has established that humans implicitly tend to hold a positive view toward themselves. In this study, we employed the event-related potential (ERP) technique to explore neural manifestations of positive implicit self-esteem using the Go/Nogo association task (GNAT). Participants generated a response (Go) or withheld a response (Nogo) to self or others words and good or bad attributes. Behavioral data showed that participants responded faster to the self paired with good than the self paired with bad, whereas the opposite proved true for others, reflecting the positive nature of implicit self-esteem. ERP results showed an augmented N200 over the frontal areas in Nogo responses relative to Go responses. Moreover, the positive implicit self-positivity bias delayed the onset time of the N200 wave difference between Nogo and Go trials, suggesting that positive implicit self-esteem is manifested on neural activity about 270 ms after the presentation of self-relevant stimuli. These findings provide neural evidence for the positivity and automaticity of implicit self-esteem. PMID:25006966

  14. Facial Swelling as a Primary Manifestation of Multiple Myeloma

    PubMed Central

    Thomas, Anju E.; Kurup, Seema; Jose, Renju; Soman, Cristalle

    2015-01-01

    Facial swellings are commonly encountered in the dental office, the cause of which could range from a congenital etiology to an acquired one or it may even be a manifestation of an underlying systemic disease. The clinician must have a thorough knowledge of the various clinical and imaging manifestations and the sites of occurrence of the various conditions to arrive at the appropriate diagnosis. Facial swellings can be classified into different groups which include acute swellings with inflammation, nonprogressive swellings, and slowly or rapidly progressive swellings. The various imaging modalities like CT and MRI are useful for assessing the extent of the swelling as well as evaluating the soft tissue and osseous involvement of the swelling. Multiple myeloma represents clonal proliferation of plasma cells and is a condition in which a facial swelling might be present, though not common. This paper reports a case of a patient with a unilateral facial swelling, which on investigation led to a diagnosis of multiple myeloma. PMID:26229694

  15. Social Comparison Manifests in Event-related Potentials

    PubMed Central

    Luo, Yi; Feng, Chunliang; Wu, Tingting; Broster, Lucas S.; Cai, Huajian; Gu, Ruolei; Luo, Yue-jia

    2015-01-01

    Social comparison, a widespread phenomenon in human society, has been found to affect outcome evaluation. The need to belong to a social group may result in distinct neural responses to diverse social comparison outcomes. To extend previous studies by examining how social comparison with hierarchical characteristics is temporally processed, electroencephalography responses were recorded in the current study. Participants played a lottery game with two pseudo-players simultaneously and received both their own and the other two players outcomes. Results of three event-related potential components, including the P2, the feedback-related negativity (FRN), and the late positive component (LPC), indicate that social comparison manifests in three stages. First, outcomes indicating a different performance from others elicited a larger P2 than evenness. Second, the FRN showed hierarchical sensitivity to social comparison outcomes. This effect manifested asymmetrically. Finally, large difference between the participants outcome and the other two players evoked a larger LPC than the medium difference and the even condition. We suggest that during social comparison, people detect if there is any difference between self and others, and then evaluate the information of this difference hierarchically, and finally interpret the situations in which oneself deviates from the group as most motivationally salient. PMID:26183734

  16. Dermatological Manifestations of Postural Tachycardia Syndrome Are Common and Diverse

    PubMed Central

    Deb, Anindita; Culbertson, Collin; Morgenshtern, Karen; DePold Hohler, Anna

    2016-01-01

    Background and Purpose Postural tachycardia syndrome (POTS) is a syndrome of orthostatic intolerance in the setting of excessive tachycardia with orthostatic challenge, and these symptoms are relieved when recumbent. Apart from symptoms of orthostatic intolerance, there are many other comorbid conditions such as chronic headache, fibromyalgia, gastrointestinal disorders, and sleep disturbances. Dermatological manifestations of POTS are also common and range widely from livedo reticularis to Raynaud's phenomenon. Methods Questionnaires were distributed to 26 patients with POTS who presented to the neurology clinic. They were asked to report on various characteristics of dermatological symptoms, with their answers recorded on a Likert rating scale. Symptoms were considered positive if patients answered with "strongly agree" or "agree", and negative if they answered with "neutral", "strongly disagree", or "disagree". Results The most commonly reported symptom was rash (77%). Raynaud's phenomenon was reported by over half of the patients, and about a quarter of patients reported livedo reticularis. The rash was most commonly found on the arms, legs, and trunk. Some patients reported that the rash could spread, and was likely to be pruritic or painful. Very few reported worsening of symptoms on standing. Conclusions The results suggest that dermatological manifestations in POTS vary but are highly prevalent, and are therefore of important diagnostic and therapeutic significance for physicians and patients alike to gain a better understanding thereof. Further research exploring the underlying pathophysiology, incidence, and treatment strategies is necessary. PMID:26610893

  17. Extrahepatic manifestations of chronic hepatitis C virus infection

    PubMed Central

    Comarmond, Cloe; Domont, Fanny; Savey, Léa; Desbois, Anne C.; Saadoun, David

    2016-01-01

    During hepatitis C virus (HCV) chronic infection, extrahepatic manifestations are frequent and polymorphous. This article reports on a large cohort of patients with HCV-related autoimmune or lymphoproliferative disorders, from mixed cryoglobulinemia vasculitis to frank lymphomas. The relationship between HCV infection and such immune-related diseases has been formally demonstrated by epidemiological, clinical, immunological and pathological data, and results of therapeutic trials. More recently, other nonliver-related HCV disorders have been reported, including cardiovascular (i.e. stroke, ischemic heart disease), renal, metabolic and central nervous system diseases. For these manifestations, most evidence comes from large epidemiological studies; there is a need for mechanistic studies and therapeutic trials for confirmation. Beyond the risk of developing liver complications, that is, cirrhosis and liver cancer, patients with HCV infection have an increased risk of morbidity and mortality related to nonliver diseases. HCV chronic infection should be analyzed as a systemic disease in which extrahepatic consequences increase the weight of its pathological burden. The need for effective viral eradication measures is underlined. PMID:26862398

  18. Extrahepatic manifestations of chronic hepatitis C virus infection.

    PubMed

    Cacoub, Patrice; Gragnani, Laura; Comarmond, Cloe; Zignego, Anna Linda

    2014-12-15

    Hepatitis C virus (HCV) infected patients are known to be at risk of developing liver complications i.e. cirrhosis and liver cancer. However, the risks of morbidity and mortality are underestimated because they do not take into account non-liver consequences of chronic hepatitis C virus infection. Numerous extrahepatic manifestations have been reported in up to 74% of patients, from perceived to disabling conditions. The majority of data concern hepatitis C virus-related autoimmune and/or lymphoproliferative disorders, from mixed cryoglobulinaemia vasculitis to frank lymphomas. More recently, other hepatitis C virus-associated disorders have been reported including cardiovascular, renal, metabolic, and central nervous system diseases. This review aims to outline most of the extrahepatic manifestations that are currently being investigated, including some of autoimmune and/or lymphoproliferative nature, and others in which the role of immune mechanisms appears less clear. Beyond the liver, hepatitis C virus chronic infection should be analyzed as a multifaceted systemic disease leading to heavy direct and indirect costs. The accurate consideration of extrahepatic consequences of such a systemic infection significantly increases the weight of its pathological burden. The need for effective viral eradication measures is underlined. PMID:25458776

  19. Extrahepatic manifestations of chronic hepatitis C virus infection.

    PubMed

    Cacoub, Patrice; Comarmond, Cloe; Domont, Fanny; Savey, Léa; Desbois, Anne C; Saadoun, David

    2016-02-01

    During hepatitis C virus (HCV) chronic infection, extrahepatic manifestations are frequent and polymorphous. This article reports on a large cohort of patients with HCV-related autoimmune or lymphoproliferative disorders, from mixed cryoglobulinemia vasculitis to frank lymphomas. The relationship between HCV infection and such immune-related diseases has been formally demonstrated by epidemiological, clinical, immunological and pathological data, and results of therapeutic trials. More recently, other nonliver-related HCV disorders have been reported, including cardiovascular (i.e. stroke, ischemic heart disease), renal, metabolic and central nervous system diseases. For these manifestations, most evidence comes from large epidemiological studies; there is a need for mechanistic studies and therapeutic trials for confirmation. Beyond the risk of developing liver complications, that is, cirrhosis and liver cancer, patients with HCV infection have an increased risk of morbidity and mortality related to nonliver diseases. HCV chronic infection should be analyzed as a systemic disease in which extrahepatic consequences increase the weight of its pathological burden. The need for effective viral eradication measures is underlined. PMID:26862398

  20. Initial Cutaneous Manifestations of Hutchinson-Gilford Progeria Syndrome

    PubMed Central

    Rork, Jillian F.; Huang, Jennifer T.; Gordon, Leslie B.; Kleinman, Monica; Kieran, Mark W.; Liang, Marilyn G.

    2014-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare, uniformly fatal premature aging disease with distinct dermatologic features. We sought to identify and describe the initial skin and hair findings as potential diagnostic signs of the disease. We performed a chart review of the structured initial intake histories of 39 individuals with HGPS enrolled in clinical trials from 2007 to 2010 at Boston Childrens Hospital, limited to cutaneous history from birth to 24 months. Medical photographs were provided through the clinical trials and The Progeria Research Foundation Medical and Research Database at Brown University Center for Gerontology and Healthcare Research. All 39 patients reported skin and hair abnormalities within the first 24 months of life. Pathologies included sclerodermoid change, prominent superficial veins, dyspigmentation, and alopecia. The mean age of presentation for each finding was less than 12 months. The most frequently reported skin feature was sclerodermoid change, which commonly involved the abdomen and bilateral lower extremities. Prominent superficial vasculature manifested as circumoral cyanosis and pronounced veins on the scalp and body. Hypo- and hyperpigmentation were observed over areas of sclerodermoid change. Scalp alopecia progressed in a distinct pattern, with preservation of the hair over the midscalp and vertex areas for the longest period of time. HGPS has distinct cutaneous manifestations during the first 2 years of life that may be the first signs of disease. Awareness of these findings could expedite diagnosis. PMID:24456199

  1. Clinical manifestations of syphilitic chorioretinitis: a retrospective study

    PubMed Central

    Yang, Bo; Xiao, Jun; Li, XiaoMing; Luo, Lifu; Tong, Bainan; Su, Guanfang

    2015-01-01

    Background: Syphilitic chorioretinitis can produce severe vision loss. However, the clinical manifestations of syphilitic chorioretinitis are still unclear, particularly during different stages. Herein, we will present our diagnostic technique for syphilitic chorioretinitis. Methods: This retrospective study recruited 109 cases; we performed a clinical evaluation including case history, serology analysis, fundus photography, fluorescein fundus angiography with or without indocyanine green angiography, auto-fluorescence, and optical coherence tomography. Results: 109 were diagnosed with acute syphilitic posterior placoid chorioretinitis by fundus photograph that revealed filthy, yellowish-white lesions. For autofluorescence, during early-stage syphilitic chorioretinitis, hyperfluorescence could be observed. During the convalescence stage, the fluorescence became hypofluorescence or disappeared. Fluorescein fundus angiography indicated early-stage transmitted fluorescence or hypofluorescence. During the venous stage, the lesion area had fluorescent leakage, mostly accompanied by retinal vasculitis. During the late stage, speckle staining was observed with optic disc fluorescence. Hypofluorescence or undistinguishable fluorescence was seen at an early stage with indocyanine green angiography. At an advanced stage, the lesion had obvious hypofluorescence. Optical coherence tomography indicated various inner segment/outer segment damage, accompanied by retinal pigment epithelium impairment. The inner segment/outer segment alteration could be lessened with treatment. Conclusions: The clinical manifestations of syphilitic chorioretinitis include impaired vision, shadow blocking, or photopsia of one or both eyes. Fundus photography, fluorescein fundus angiography with or without indocyanine green angiography, autofluorescence, and optical coherence tomography could be useful accessory examinations. Autofluorescence and optical coherence tomography could be the main examinations for monitoring disease progression. PMID:26064397

  2. Treatment of central nervous system manifestations in mitochondrial disorders.

    PubMed

    Finsterer, J

    2011-01-01

    Central nervous system (CNS) manifestations of mitochondrial disorders (MIDs) are accessible to therapy. Therapy of CNS abnormalities may be categorized as acting on the pathogenic cascade or on the genetic level, which is experimental. Treatment acting on the pathogenic cascade may be classified as non-specific, including antioxidants, electron donors/acceptors, lactate-lowering agents, alternative energy providers, cofactors, avoidance of mitochondrion-toxic drugs, and physiotherapy, or as specific, including drugs against epilepsy, movement disorders, migraine, spasticity, psychiatric abnormalities, hypopituitarism, or bulbar manifestations, ketogenic diet, deep brain stimulation, or artificial ventilation. Stroke-like episodes need to be delineated from ischaemic stroke and require special management. Potentially, mitochondrion-toxic drugs and drug cocktails need to be avoided, seizures should be consequently treated even with mitochondrion-toxic drugs if necessary, and as few drugs as possible should be given. Effective treatment acting on the pathogenic cascade may increase the quality of life and outcome in patients with MID and may prevent a therapeutic nihilism occasionally upcoming with MIDs. PMID:20500524

  3. Oral Crohns disease without intestinal manifestations

    PubMed Central

    Harikishan, Gingisetty; Reddy, Nagate Raghavendra; Prasad, Harikrishnan; Anitha, Subappa

    2012-01-01

    Crohn?s disease is a granulomatous inflammatory bowel disease and was described in 1932 as a chronic granulomatous disorder of the terminal ileum and is now considered a distinct member of the inflammatory bowel disease family. It may affect any part of the gastrointestinal tract. Oral Crohn?s disease has been reported frequently in the last three decades with or without intestinal manifestations. In the latter case, it is considered as one of the orofacial granulomatosis. There has been much doubt whether intestinal manifestations of Crohn?s disease will eventually develop in the orofacial granulomatosis. We present a female patient aged 22 years with prominent clinical findings such as persistent swelling of lower and upper lip with fissuring and angular cheilitis, granulomatous gingival enlargement, and cobblestone or corrugated appearance of labial mucosa, which are suggestive of Crohn?s disease, but with no evidence of other gastrointestinal involvement. The patient underwent surgical treatment with external gingivectomy procedure. A 6-month follow-up showed minimal recurrence. PMID:23066305

  4. Antibody induction of lupus-like neuropsychiatric manifestations

    PubMed Central

    Lawrence, David A.; Bolivar, Valerie J.; Hudson, Chad A.; Mondal, Tapan K.; Pabello, Nina G.

    2007-01-01

    Although systemic lupus erythematosis (SLE) is usually evaluated with regard to autoimmune reactivity toward the kidney, there are multiple psychiatric abnormalities associated with this autoimmune disease. Lupus-prone male NZM88 mice, derived from NZB/NZW F1 mice, develop early neuropsychiatric manifestations without any signs of nephritis. In addition to the usual repertoire of antibody specificities, including autoantibodies to dsDNA and renal antigens, mice of this inbred strain express autoantibodies to numerous brain antigens. Here, we show that autoantibodies to brain antigens, assessed by Western analysis, are as individually varied as are the diverse neuropsychiatric manifestations observed in SLE patients. Additionally, a monoclonal antibody derived from the spleen of an untreated NZM88 male when injected into healthy BALB/cByJ, but not C57BL/6J, mice induced behaviors similar to those of lupus-prone NZM88 mice. This monoclonal antibody, which is specific to dynamin-1, binds preferentially in BALB/cByJ cortex and induces substantial expression of cytokines mainly in the hypothalamus. Thus, an antibody to just one brain antigen can induce multiple behavioral changes, and multiple autoantibodies to different brain antigens exist in lupus-prone mice; however, susceptibility to the induction of neurobehavioral deficits is dependent on host genetics. PMID:17156859

  5. Social Comparison Manifests in Event-related Potentials.

    PubMed

    Luo, Yi; Feng, Chunliang; Wu, Tingting; Broster, Lucas S; Cai, Huajian; Gu, Ruolei; Luo, Yue-jia

    2015-01-01

    Social comparison, a widespread phenomenon in human society, has been found to affect outcome evaluation. The need to belong to a social group may result in distinct neural responses to diverse social comparison outcomes. To extend previous studies by examining how social comparison with hierarchical characteristics is temporally processed, electroencephalography responses were recorded in the current study. Participants played a lottery game with two pseudo-players simultaneously and received both their own and the other two players' outcomes. Results of three event-related potential components, including the P2, the feedback-related negativity (FRN), and the late positive component (LPC), indicate that social comparison manifests in three stages. First, outcomes indicating a different performance from others elicited a larger P2 than evenness. Second, the FRN showed hierarchical sensitivity to social comparison outcomes. This effect manifested asymmetrically. Finally, large difference between the participant's outcome and the other two players' evoked a larger LPC than the medium difference and the even condition. We suggest that during social comparison, people detect if there is any difference between self and others, and then evaluate the information of this difference hierarchically, and finally interpret the situations in which oneself deviates from the group as most motivationally salient. PMID:26183734

  6. Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

    PubMed Central

    Foster, B.L.; Ramnitz, M.S.; Gafni, R.I.; Burke, A.B.; Boyce, A.M.; Lee, J.S.; Wright, J.T.; Akintoye, S.O.; Somerman, M.J.; Collins, M.T.

    2014-01-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. PMID:24700690

  7. Rare bone diseases and their dental, oral, and craniofacial manifestations.

    PubMed

    Foster, B L; Ramnitz, M S; Gafni, R I; Burke, A B; Boyce, A M; Lee, J S; Wright, J T; Akintoye, S O; Somerman, M J; Collins, M T

    2014-07-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. PMID:24700690

  8. Extrahepatic manifestations of hepatitis C infection: navigating CHASM.

    PubMed

    Sherman, Amy C; Sherman, Kenneth E

    2015-09-01

    This article describes the importance of extrahepatic systemic manifestations of chronic hepatitis C virus (HCV) infection. While most HCV literature focuses on liver injury and fibrosis progression, a spectrum of systemic disease processes, collectively called C hepatitis-associated systemic manifestations (CHASMs), are present in a high proportion of infected persons. These include thyroid disease (Hashimoto's thyroiditis, Graves disease, and thyroid cancer), cardiovascular disease (atherosclerosis, carotid artery disease, and coronary artery disease), renal disease (MPGN and glomerulosclerosis), eye disease (Mooren's ulcers and sicca syndrome), skin disease (PCT, vasculitis, and lichen planus), lymphomas (NHL and splenic T-cell), and diabetes. Mechanistic understanding of how HCV leads to CHASM processes could lead to development of new interventions. The role of early HCV treatment and cure may result in preventive strategies for a variety of complex disease states. Key Points Systemic extrahepatic complications of HCV comprise a spectrum of disease states in many organs and systems. Effective treatment of HCV may reduce or eliminate some but not all of these systemic complications. Further research into early treatment intervention as a prevention strategy for systemic disease is warranted. PMID:26208812

  9. Manifestations of paediatric Leishmania infantum infections in Malta

    PubMed Central

    Pace, David; Williams, Thomas N.; Grochowska, Alicja; Betts, Alexandra; Attard-Montalto, Simon; Boffa, Michael J.; Vella, Cecil

    2011-01-01

    Summary Leishmania infantum is endemic in the Maltese archipelago, a group of islands in the Mediterranean which are visited frequently by tourists from Northern European countries. The burden of leishmaniasis is highest in children who may present with cutaneous or visceral manifestations. We describe systematically the manifestations, diagnosis and management of leishmaniasis in children <14 years of age, who had a histopathological diagnosis of leishmaniasis in Malta, from 2004 to 2008. Eleven children were diagnosed with leishmaniasis; 8 children (1544 months of age) had visceral disease and three (aged 913 years) suffered cutaneous infections. Prolonged high grade fever, pallor, hepatosplenomegaly, and pancytopenia were common presenting features of visceralisation. Diagnosis was based on the visualisation of amastigotes from bone marrow aspirates. Pentavalent antimonials were associated with treatment failure in two children, whilst liposomal amphotericin B was curative in all. Children with cutaneous leishmaniasis had dry crusted ulcero-nodular lesions on exposed areas which responded to intra-lesional instillation of sodium stibogluconate or to cryotherapy. Leishmaniasis should be included in the differential diagnosis of fever and hepatosplenomegaly or chronic cutaneous lesions in children who travel to Malta. PMID:21212024

  10. Analysis of Recent Manifests for Goods Imported through US Ports

    SciTech Connect

    Descalle, M; Manatt, D; Slaughter, D

    2006-09-27

    Several active interrogation techniques are being developed to detect shielded special nuclear materials (SNM) hidden in cargo containers loaded on container ships arriving at US ports. It raises the questions of the types of cargos in which SNM could be hidden, and their impact on detected signatures. Since the definition of a set of ''typical'' or standard cargos has proven to be difficult, we analyzed shipping manifests for US imports shipped through North American ports collected on 14 days distributed over 12 months. From these data, we generated several distribution functions such as commodity categories, average densities, and packaging types that could be of interest to the cargo scanning community. One of the cargo scanning techniques currently under development at LLNL is based on neutron active interrogation, and relies on the unique signature of beta-delayed gammas emitted by fission products in the 3 to 7 MeV energy range. {sup 19}F(n,a){sup 16}N, has been identified as the main potential interference for 7 and 9 MeV neutron beams. Estimates of cargo compositions based on manifests identified as containing fluorine are presented.

  11. Requirements for a Manifestly Covariant Quantum Field Theory

    NASA Astrophysics Data System (ADS)

    Walker, Stuart

    2015-04-01

    Quantum field theory has shown much success in defining manifestly covariant fields in Minkowski space-time. The general procedure for construction of QFT in terms of annihilation and creation operators acting through a simplectic form is outlined. It is demonstrated that this methodology fails to define a general covariant vector field in a space-time spanning a Riemannian manifold with Lorentz metric (M,guv) ; therefore, no appropriate outer product can be defined to produce a general 2nd rank tensor (i.e. stress-energy tensor). The QFT defined in flat space-time is expanded to include curvilinear coordinates. The manifestly covariant QFT in curved space-time is used to redefine the equations of motion in terms of the classical field theory. The resulting theory has the benefit of requiring an S-matrix defining unitarily equivalent quantum theories while providing an exact formulation for the quantized equations of motion in a gravitational field. The physical implications of this construction are discussed including the anisomorphic nature of the simplectic vector space in curvilinear coordinates. An example involving plane wave expansion is discussed.

  12. Case report: bipolar disorder as the first manifestation of CADASIL

    PubMed Central

    2014-01-01

    Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease, clinically characterized by variable manifestations of migraine, recurrent transient ischemic attack or lacunar strokes, cognitive decline, and mood disturbances. However, manic episodes have rarely been documented as an initial symptom of CADASIL and bipolar disorder presenting as the first manifestation in CADASIL has not been reported previously from evaluations by psychiatrists or psychological testing by psychologists. Case presentation A 53 year old woman developed symptoms of mania in her 50s leading to a personality change involving a continuously labile mood and irritability over a number of years. Neuropsychological testing revealed an intact memory, but impairment in attention and executive function. In the Rorschach test, she showed a high level of cognitive rigidity. Magnetic resonance imaging findings were very consistent with a diagnosis of CADASIL, which was confirmed by genetic testing for NOTCH3 mutations. Atypical antipsychotics proved to be helpful in treating her manic symptoms and for behavior control. Conclusion We present a novel case of CADASIL that first presented as bipolar disorder. We contend that when patients show a late onset personality change or chronically irritable mood that deteriorates over many years, an organic cause such as CADASIL must be considered. Further studies are needed to better understand the exact impacts of cerebral tissue lesions and psychiatric symptoms in CADASIL patients. PMID:24929957

  13. Nasopharyngeal Tuberculosis: Epidemiology, Mechanism of Infection, Clinical Manifestations, and Management

    PubMed Central

    Sittitrai, Pichit

    2016-01-01

    Nasopharyngeal tuberculosis (NPTB) is a noteworthy disease especially in its worldwide spread of the Mycobacterium infection. Although NPTB has been identified in less than one percent of TB cases, recent multiple case reports indicate an either increased awareness or incidence of this disease. The most helpful diagnostic tool is an uncomplicated nasopharyngeal biopsy. However, NPTB is usually ignored because it has varied clinical manifestations and similar presentations with other more common head and neck diseases. Furthermore, the most common presenting symptom is cervical lymphadenopathy mimicking nasopharyngeal carcinoma, a more common and serious disease. Treatment outcomes of NPTB are good in both HIV-positive or HIV-negative patients. In addition, pulmonary tuberculosis association was reported in wide range between 8.3% and 82% which should be considered in a treatment program. In conclusion, early diagnosis and management in NPTB can be achieved by (1) increased awareness of this disease, (2) improvement in knowledge regarding clinical manifestations, and (3) improvement of diagnostic techniques.

  14. Manifest Predictors of Past Suicide Attempts in a Population of Icelandic Adolescents.

    ERIC Educational Resources Information Center

    Bjarnason, Thoroddur; Thorlindsson, Thorolfur

    1994-01-01

    Explores the use of manifest indicators to predict adolescents' suicide attempts. Manifest predictors in the categories of school, leisure, peer and parent relations, consumption, and contact with suicidal behavior identified those most at risk. Concludes that manifest predictors can complement psychiatric screenings by reducing the number to be

  15. 8 CFR 251.5 - Paper arrival and departure manifests for crew.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 8 Aliens and Nationality 1 2012-01-01 2012-01-01 false Paper arrival and departure manifests for... REGULATIONS ARRIVAL AND DEPARTURE MANIFESTS AND LISTS: SUPPORTING DOCUMENTS 251.5 Paper arrival and... from the United States must submit arrival and departure manifests in a paper format in accordance...

  16. MUCOCUTANEOUS MANIFESTATIONS OF CHIKUNGUNYA FEVER: A STUDY FROM AN EPIDEMIC IN COASTAL KARNATAKA

    PubMed Central

    Bhat, Ramesh M; Rai, Yashaswi; Ramesh, Amitha; Nandakishore, B; Sukumar, D; Martis, Jacintha; Kamath, Ganesh H

    2011-01-01

    Background: Chikungunya fever (CF) epidemic has recently re-emerged in India affecting large population. Mucocutaneous manifestations are an important clinical feature of the disease. We have reviewed mucocutaneous manifestations of the disease during a recent epidemic in coastal Karnataka. Patients and Methods Seventy-five suspect cases of CF with dermatological manifestations were examined. Results: We categorized the mucocutaneous manifestation into six groups: 1. skin rash, 2. apthae like ulcers, 3. pigmentary changes, 4. desquamation, 5. exacerbation of the existing dermatoses, 6. miscellaneous. Skin rashes were the most commonly observed skin changes followed by apthae like ulcers and pigmentary changes. Desquamation of the skin over the face is a new manifestation observed by us. Conclusion: wide spectrum of mucocutaneous manifestations is observed in CF. We have provided a classification for these manifestations, which may help in better recognition and uniform recording in future. PMID:21772590

  17. Clinical and pathological manifestations of human henipavirus infection.

    PubMed

    Wong, K T; Tan, C T

    2012-01-01

    The clinicopathological features of human Nipah virus and Hendra virus infections appear to be similar. The clinical manifestations may be mild, but if severe, includes acute encephalitic and pulmonary syndromes with a high mortality. The pathological features in human acute henipavirus infections comprise vasculopathy (vasculitis, endothelial multinucleated syncytia, thrombosis), microinfarcts and parenchymal cell infection in the central nervous system, lung, kidney and other major organs. Viral inclusions, antigens, nucleocapsids and RNA are readily demonstrated in blood vessel wall and numerous types of parenchymal cells. Relapsing henipavirus encephalitis is a rare complication reported in less than 10% of survivors of the acute infection and appears to be distinct from the acute encephalitic syndrome. Pathological evidence suggests viral recrudescence confined to the central nervous system as the cause. PMID:22427144

  18. Fulminant primary manifestation of Crohn's colitis "Hot Crohn's disease".

    PubMed

    Heise, W; Kersten, O; Kassner, K M; Birkenmeyer, G; Grosse, G; Niedobitek, F

    1997-06-01

    Following the very short course of a disease with watery diarrhea, fever, nausea, meteorism and a severe feeling of general illness, a 22-year-old patient was diagnosed as having a toxic megacolon, and a subtotal colectomy was carried out. The postoperative progression was uncomplicated and the patient recovered quickly. The examination of the operation specimen revealed a serious ulcerous colitis with relative omission of the rectum and the distal sigmoid colon. After critical evaluation of the histological findings, it was judged to be a fulminant Crohn's colitis and, for the purposes of differential diagnosis, differentiated from ulcerative colitis and colitis indeterminate. The formal pathogenesis of the inflammatory-ulcerous processes is discussed, in particular with regard to the activation of the macrophages and the very short anamnesis in a clinically established primary manifestation of the disease. PMID:9231992

  19. Infertility and miscarriage: common pathways in manifestation and management.

    PubMed

    Agenor, Angena; Bhattacharya, Sohinee

    2015-07-01

    The relationship between miscarriage and fertility is complex. While most healthcare settings treat miscarriage as a problem of subfertility in assisted reproduction units, others believe that miscarriage occurs in super-fertile women. Infertile women undergoing assisted reproduction are at a greater risk of having a miscarriage especially at an advanced age compared with women conceiving naturally. Aberrant expression of immunological factors and chromosomal abnormalities underlie both infertility and miscarriage. Common risk factors include increased maternal age, obesity, smoking, alcohol, pre-existing medical conditions and anatomical abnormalities of the reproductive system. Management pathways of both conditions may be similar with pre-implantation genetic testing and assisted reproductive technology used in both conditions. This paper discusses the synergies and differences between the two conditions in terms of their epidemiology, etiopathogenesis, risk factors and management strategies. The two conditions are related as degrees of severity of reproductive failure with common pathways in manifestation and management. PMID:26238301

  20. Gastrointestinal manifestations of systemic disease: a multimodality review.

    PubMed

    Nay, John; Menias, Christine O; Mellnick, Vincent M; Balfe, Dennis M

    2015-08-01

    Systemic diseases have many different presentations, including imaging findings in the bowel. Recognizing the imaging findings in these diseases is important in making the correct diagnosis. Although certain imaging features overlap, knowledge of specific findings along with the clinical presentation aid in narrowing the differential or in making an imaging diagnosis. The pictorial review will focus on the gastrointestinal manifestations of systemic diseases, including amyloidosis, angiotensin converter enzyme inhibitor-induced angioedema, celiac sprue, distal intestinal obstruction syndrome, graft-versus-host disease, hemolytic uremic syndrome, hemophilia, Henoch-Schnlein purpura, intestinal lymphangiectasia, mastocytosis, scleroderma, systemic lupus erythematosus, Wegener's granulomatosis, and Whipple's disease. The aforementioned diseases can be subdivided based upon the underlying process leading to the disease. The diseases discussed are categorized into autoimmune, infiltrative, treatment related, congenital/hereditary, and infectious etiologies. PMID:25548008

  1. Systemic viral infections and their retinal and choroidal manifestations.

    PubMed

    Yoser, S L; Forster, D J; Rao, N A

    1993-01-01

    Viruses are one of the most common causes of infections involving the posterior segment of the eye. Such infections can occur either on a congenital or an acquired basis, and may affect primarily the retina or the choroid. Congenital cytomegalovirus (CMV) and rubella infections may result in retinitis. CMV retinitis is also the most common cause of acquired viral retinitis, primarily because of the acquired immunodeficiency syndrome (AIDS). Other types of viral retinitis, such as those caused by herpes simplex or herpes zoster, can occur in immunocompromised or immunocompetent individuals. Retinitis or choroiditis caused by viruses such as measles, influenza, Epstein-Barr virus, and Rift Valley fever virus, typically occurs subsequent to an acute viral systemic illness. The systemic and ocular manifestations, as well as the histopathology, laboratory tests, differential diagnoses, and treatment regimens for each of the individual viruses are discussed in detail. PMID:8387231

  2. Central nervous system leukemia and lymphoma: computed tomographic manifestations

    SciTech Connect

    Pagani, J.J.; Libshitz, H.I.; Wallace, S.; Hayman, L.A.

    1981-12-01

    Computed tomographic (CT) abnormalities in the brain were identified in 31 of 405 patients with leukemia or lymphoma. Abnormalities included neoplastic masses (15), hemorrhage (nine), abscess (two), other brain tumors (four), and methotrexate leukoencephalopathy (one). CT was normal in 374 patients including 148 with meningeal disease diagnosed by cerebrospinal fluid cytologic examination. Prior to treatment, malignant masses were isodense or of greater density with varying amounts of edema. Increase in size or number of the masses indicated worsening. Response to radiation and chemotherapy was manifested by development of a central low density region with an enhancing rim. CT findings correlated with clinical and cerebrospinal fluid findings. The differential diagnosis of the various abnormalities is considered.

  3. Incidence, pathophysiology, and clinical manifestations of antiphospholipid syndrome.

    PubMed

    Brock, Clifton O'neill; Brohl, Andrew Scott; Obi?an, Sarah Gloria

    2015-09-01

    Antiphospholipid syndrome (APLS) is a complex systemic disease with a wide variety of clinical manifestations. In the obstetric population, recurrent early pregnancy loss, fetal loss, and thrombosis are hallmarks of the disease. Patients with APLS have developed one or more pathogenic auto-antibodies directed against plasma and cell surface proteins. These antibodies are characterized by their affinity for anionic phospholipids. Interactions between APLS antibodies and their protein targets influence a wide variety of biological systems and signaling pathways, including monocytes, platelets, the complement system, and endothelial cells. While much research is currently directed at understanding the mechanisms involved in this autoimmune disease, the key clinical presentation is the hypercoagulable state resulting in thrombosis occurring in essentially any arterial or venous location, as well as numerous obstetrical complications. Treatment of APLS is generally directed at preventing thrombosis and poor pregnancy outcomes by ameliorating the hypercoagulable state. PMID:26396056

  4. Ocular manifestation of lymphoma in newly diagnosed cats.

    PubMed

    Nerschbach, V; Eule, J C; Eberle, N; Höinghaus, R; Betz, D

    2016-03-01

    Ocular manifestations of lymphoma are described in humans and dogs but rarely in cats. In this prospective study, cats with newly diagnosed and treatment-naïve lymphoma were evaluated concerning clinical stage and ophthalmologic findings. Twenty-six cats were included. In 12 cats (48%), ocular changes were documented. Uveitis anterior and posterior were predominant findings, being present in 58% of affected individuals. Other findings included exophthalmos, corneal surface lesions and chemosis. Eight cats received chemotherapy, two of which had ocular involvement. In these two cats, a complete remission of an anterior and a partial remission of a posterior uveitis were documented. Due to the detection of ocular involvement, a stage migration from stage IV to V occurred in four patients. In the light of these findings, an opthalmological examination may be considered as an important part of staging in feline lymphoma as well as of follow-up examination in affected cats. PMID:24102737

  5. Dilative Arteriopathy and Leucencephalopathy as Manifestations of a Neurometabolic Disease

    PubMed Central

    Finsterer, Josef; Bastovansky, Adam

    2015-01-01

    Background: Dilative arteriopathy plus leucencephalopathy as a manifestation of a mitochondrial disorder (MID) is rare. Case report: In a 70yo Caucasian female, height 160cm, weight 62kg, with mild right-sided hemiparesis due to subacute ischemic stroke in the posterior leg of the left internal capsule, a megadolichobasilar artery and marked leucencephalopathy and gliosis of the pons were detected. In addition, microbleeds in a peripheral distribution at the cortical/subcortical border were noted. After the exclusion of various differentials, which could have explained her abnormalities, a MID was suspected. Conclusions: Dilative arteriopathy of the intra-cerebral arteries, in association with recurrent stroke and supra- and infratentorial leucencephalopathy, but the absence of neurofibromatosis or increased low-density lipoprotein values, is most likely attributable to a non-syndromic MID. PMID:26191091

  6. The SAPHO syndrome revisited with an emphasis on spinal manifestations.

    PubMed

    Leone, Antonio; Cassar-Pullicino, Victor N; Casale, Roberto; Magarelli, Nicola; Semprini, Alessia; Colosimo, Cesare

    2015-01-01

    The synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome includes a group of chronic, relapsing, inflammatory musculoskeletal disorders with similar manifestations, in particular synovitis, hyperostosis, and osteitis, which may or may not be associated with neutrophilic skin eruptions such as palmoplantar pustulosis and acne conglobata. The syndrome occurs at any age, can involve any skeletal site, and its imaging appearances are variable, depending on the stage/age of the lesion and imaging method. The diagnosis is difficult if there is no skin disease. Awareness of the imaging appearances, especially in the spine, may help the radiologist in avoiding misdiagnosis (e.g., infection, tumor) and unnecessary invasive procedures, while facilitating early diagnosis and selection of an effective treatment. In this article, we provide an overview of the radiological appearances of SAPHO syndrome, focusing on the magnetic resonance imaging findings of vertebral involvement, and present relevant clinical and pathological features that assist early diagnosis. PMID:25331355

  7. Cerebral Scedosporium apiospermum infection presenting with intestinal manifestations.

    PubMed

    Lin, D; Kamili, Q; Qurat-Ul-Ain, K; Lai, S; Musher, D M; Hamill, R

    2013-06-01

    We present a case of cerebral Scedosporium apiospermum infection presenting with intestinal manifestations in a 64-year-old male patient on immunosuppression for orthotopic liver transplantation. At admission, the patient's chief complaint was chronic watery diarrhea and he was found to have colonic ulcers on endoscopy. His hospital course was complicated by a tonic-clonic seizure caused by a left frontal brain abscess, with the causative agent being identified by culture. He was treated with lobectomy, high-dose intravenous voriconazole, and liposomal amphotericin with clinical, endoscopic, and histologic improvement. To our knowledge, S. apiospermum has not been previously described as a cause of colitis. The septate branching appearance of the Scedosporium species is similar to the more common Aspergillus species. This case of gastrointestinal Scedosporium brings into question previously reported cases of isolated gastrointestinal aspergillosis diagnosed by histopathology. Clinical suspicion for S. apiospermum must be maintained in immunosuppressed patients presenting with neurologic and gastrointestinal symptoms. PMID:23440749

  8. Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome.

    PubMed

    Sathienkijkanchai, Achara; Prucka, Sandra K; Grant, John H; Robin, Nathaniel H

    2008-01-01

    Facial asymmetry is a common finding in infants and can be the result of a number of distinctive conditions such as hemifacial microsomia, overgrowth syndromes, a soft tissue tumor, and a vascular malformation. However, overgrowth syndromes such as Beckwith-Wiedemann syndrome (BWS) typically manifest more extensive involvement; it rarely presents as isolated facial overgrowth.Here, we present a 7-year-old boy who presented with facial asymmetry. He was found to have isolated facial hemihyperplasia, involving his right cheek and teeth. No abnormalities were seen in the rest of his examination. The diagnosis of BWS was considered and was confirmed by detection of a methylation abnormality in H19 (DMR1). This case demonstrates that BWS should be considered, even with isolated facial involvement. This is important, as affected patients are predisposed to certain malignancies, especially in the first 5 to 8 years of life. Therefore, specialized surveillance is recommended as the part of management. PMID:18216702

  9. Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations

    PubMed Central

    Franz, D. N.; Bissler, J. J.; McCormack, F. X.

    2015-01-01

    Tuberous sclerosis complex (TSC) is an important cause of epilepsy and autism, as well as renal and pulmonary disease in adults and children. Affected individuals are subject to hamartomas in various organ systems which result from constitutive activation of the protein kinase mTOR (mammalian target of rapamycin). The clinical course, prognosis and appropriate therapy for TSC patients are often different from that for individuals with epilepsy, renal tumors, or inter-stitial lung disease, from other causes. Additionally, TSC serves as a model for other conditions in which the mTOR pathways are also up-regulated. This article reviews the molecular pathophysiology and management of neurological, renal and pulmonary manifestations of the disorder. The use of mTOR inhibitors such as rapamycin and everolimus is discussed and recent clinical trials of these drugs in TSC are reviewed. PMID:21210335

  10. Early manifestations of BPAN in a pediatric patient.

    PubMed

    Okamoto, Nobuhiko; Ikeda, Tae; Hasegawa, Tatsuji; Yamamoto, Yuto; Kawato, Kazumi; Komoto, Tomohiro; Imoto, Issei

    2014-12-01

    Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive brain disorders with several distinguishable subtypes. Recently, WDR45 mutations were reported in patients with β-propeller protein-associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade. BPAN has a distinct brain magnetic resonance imaging (MRI) pattern showing iron deposition in the globus pallidus and substantia nigra. To date, many of the BPAN patients have been diagnosed in adulthood. Here, we report on 6-year-old girl with BPAN diagnosed by whole exome sequencing. She showed Rett syndrome-like manifestations, a peculiar facial appearance and mildly elevated serum enzymes. Brain iron accumulation was detected by T2*-weighted MRI and T2-star weighted angiography (SWAN). This unique combination of clinical and neuroimaging features may be helpful for early diagnosis of BPAN. PMID:25263061

  11. Physicochemical Properties of Nanomaterials: Implication in Associated Toxic Manifestations

    PubMed Central

    Gatoo, Manzoor Ahmad; Naseem, Sufia; Arfat, Mir Yasir; Mahmood Dar, Ayaz; Qasim, Khusro

    2014-01-01

    Nanotechnology has emerged as one of the leading fields of the science having tremendous application in diverse disciplines. As nanomaterials are increasingly becoming part of everyday consumer products, it is imperative to assess their impact on living organisms and on the environment. Physicochemical characteristics of nanoparticles and engineered nanomaterials including size, shape, chemical composition, physiochemical stability, crystal structure, surface area, surface energy, and surface roughness generally influence the toxic manifestations of these nanomaterials. This compels the research fraternity to evaluate the role of these properties in determining associated toxicity issues. Reckoning with this fact, in this paper, issues pertaining to the physicochemical properties of nanomaterials as it relates to the toxicity of the nanomaterials are discussed. PMID:25165707

  12. Effects of Firing Atmosphere on the Color Manifestation of Celadon

    NASA Astrophysics Data System (ADS)

    Pee, J. H.; Choi, H. S.; Kim, K. J.; Ryu, J. H.; Gang, G. I.; Katsuki, H.

    2011-10-01

    Effects of firing atmosphere on the color manifestation of celadon were studied. The firing atmosphere was obtained by the combustion of LPG, which generates CO gas during incomplete combustion, which acted as the reducing agent. The amount of CO gas increased as the amount of injected LPG gas increased. As the amount of generated CO gas was few little, the a* and b* values was high, which exhibits a brown color. When the amount of CO gas increased, the a* and b* decreased, resulting in a deep blue color. The residual oxygen analysis result suggested that the amount of residual oxygen in the glaze decreased as the firing atmosphere changed towards reduction. This can be explained by the oxidation of the CO gas into CO2 by seizing a large amount of oxygen in the glaze.

  13. Neurobehavioral manifestations of developmental impairment of the brain

    PubMed Central

    Dubovický, Michal

    2010-01-01

    Individual characteristics of human nature (e.g. introversion, extroversion, mood, activity, adaptability, aggressiveness, social ability, anxiety) do not need to be primarily innate. They can be determined by the action of various influences and their interactions on functional development of the brain. There is ample epidemiological and experimental evidence that chemical and/or physical factors acting during sensitive time windows of the brain development can cause mental, behavioral, emotional and/or cognitive disorders. Environmental pollutants, addictive substances, drugs, malnutrition, excessive stress and/or hypoxia-ischemia were reported to induce functional maldevelopment of the brain with consequent neurobehavioral disorders. The article provides review on most significant neurobehavioral manifestations of developmental impairment of the brain during prenatal, perinatal and early postnatal period. The most known adverse factors causing developmental neurobehavioral dysfunctions in humans as well as in experimental animals are discussed. PMID:21217874

  14. Acute necrotizing pancreatitis as first manifestation of primary hyperparathyroidism

    PubMed Central

    Lenz, Jeroen I; Jacobs, Jimmy M; Op de Beeck, Bart; Huyghe, Ivan A; Pelckmans, Paul A; Moreels, Tom G

    2010-01-01

    We report the case of a female patient with severe acute necrotizing pancreatitis associated with hypercalcemia as first manifestation of primary hyperparathyroidism caused by a benign parathyroid adenoma. Initially the acute pancreatitis was treated conservatively. The patient subsequently underwent surgical resection of the parathyroid adenoma and surgical clearance of a large infected pancreatic pseudocyst. Although the association of parathyroid adenoma-induced hypercalcemia and acute pancreatitis is a known medical entity, it is very uncommon. The pathophysiology of hypercalcemia-induced acute pancreatitis is therefore not well known, although some mechanisms have been proposed. It is important to treat the provoking factor. Therefore, the cause of hypercalcemia should be identified early. Surgical resection of the parathyroid adenoma is the ultimate therapy. PMID:20556845

  15. Cutaneous manifestations of injectable drug use: hidden secrets.

    PubMed

    Bara?ska-Rybak, Wioletta; B?a?ewicz, Izabela; K?kol, Monika; Roter, Miros?aw; Nowicki, Roman

    2014-04-01

    Abscesses related to drug use are the most common cutaneous manifestations among injection drug users, often occurring when the veins become less accessible. In these cases, other techniques may be used to administer drugs, such as skin popping (subcutaneous injection) or muscle popping (intramuscular injection). The main risk factors for abscess formation include skin popping, use of unsterilized needles, and injection of speedball (a mixture of cocaine and heroin). We present a case of recurrent abscesses accompanied by fever, hypersomnia alternating with insomnia, diaphoresis, fatigue, recent weight loss, and agitation following subcutaneous injection of a tramadol, opipramol, and clonazepam mixture. Differential diagnoses included pyoderma gangrenosum on the basis of hepatitis C virus, skin lesions connected with human immunodeficiency virus infection, vasculitis, endocarditis, and serotonin syndrome. The patient was treated with oral antibiotics, surgical incision, and drainage of the abscesses, with consequent improvement. PMID:24818177

  16. Dental manifestations in bariatric patients: review of literature.

    PubMed

    Barbosa, Carolina Silveira; Barbrio, Gabriel Salles; Marques, Vinicius Rizzo; Baldo, Vitor de Oliveira; Buzalaf, Marlia Afonso Rabelo; Magalhes, Ana Carolina

    2009-01-01

    The rate of bariatric surgery has significantly risen in the past decade as an increasing prevalence of extreme obesity can be observed. Although bariatric surgery is an effective therapeutic modality for extreme obesity, it is associated with risk factors affecting also oral health. Based on an overview of the current literature, this paper presents a summary of dental manifestations in bariatric patients. Bariatric surgeries are associated with an increased risk for gastro-esophageal reflux which in turn might account for the higher amount of carious and erosive lesions observed in bariatric patients. As a result, also dentin hypersensitivity might be observed more frequently. The current data indicate that recommended postsurgical meal patterns and gastric reflux might increase the risk for dental lesions, particularly in the presence of other risk factors, such as consumption of sweet-tasting foods and acidic beverages. Further research is needed to evaluate the correlation of bariatric surgery and the development of dental diseases. PMID:21499648

  17. The multiple electrocardiographic manifestations of ventricular repolarization memory.

    PubMed

    Chiale, Pablo A; Etcheverry, Daniel; Pastori, Julio D; Fernandez, Pablo A; Garro, Hugo A; González, Mario D; Elizari, Marcelo V

    2014-08-01

    T wave "memory" is a peculiar variety of cardiac remodeling caused by a transient change in the course of ventricular depolarization (due to ventricular pacing, rate-dependent intraventricular block, ventricular preexcitation or tachyarrhythmias with wide QRS complexes). It is usually manifested by inverted T waves that appears when normal ventricular activation is restored. This phenomenon is cumulative and occurs earlier if the ventricular myocardium has previously been exposed to the same conditioning stimuli. In this article the different conditions giving rise to "classical" T wave memory development are reviewed and also "another" type of T wave memory is described. It is also shown that cardiac memory may induce not only negative (pseudo-primary) T waves but also a reversal of primary and pseudoprimary T waves leading to "normalization" of ventricular repolarization. The knowledge of these dissimilar consequences of T wave memory is essential to assess the characteristics of ventricular repolarization. PMID:24827802

  18. The Multiple Electrocardiographic Manifestations of Ventricular Repolarization Memory

    PubMed Central

    Chiale, Pablo A; Etcheverry, Daniel; Pastori, Julio D; Fernndez, Pablo A; Garro, Hugo A; Gonzlez, Mario D; Elizari, Marcelo V

    2014-01-01

    T wave memory is a peculiar variety of cardiac remodeling caused by a transient change in the course of ventricular depolarization (due to ventricular pacing, rate-dependent intraventricular block, ventricular preexcitation or tachyarrhythmias with wide QRS complexes). It is usually manifested by inverted T waves that appears when normal ventricular activation is restored. This phenomenon is cumulative and occurs earlier if the ventricular myocardium has previously been exposed to the same conditioning stimuli. In this article the different conditions giving rise to classical T wave memory development are reviewed and also another type of T wave memory is described. It is also shown that cardiac memory may induce not only negative (pseudo-primary) T waves but also a reversal of primary and pseudo-primary T waves leading to normalization of ventricular repolarization. The knowledge of these dissimilar consequences of T wave memory is essential to assess the characteristics of ventricular repolarization. PMID:24827802

  19. Sarcoidosis: radiographic manifestations in the nails and distal phalanges.

    PubMed

    Albers, Brittany K; Sluzevich, Jason C; Garner, Hillary W

    2016-05-01

    Sarcoidosis is a granulomatous disease which can affect multiple organ systems. Clinical and radiologic manifestations depend on the organ system involved and the chronicity of disease. Nail involvement in sarcoidosis is rare, but is clinically relevant as it indicates chronic systemic disease. Nail abnormalities can be identified radiographically, and when seen in patients with known or suspected sarcoidosis, should prompt careful evaluation of the underlying bone for osseous involvement. We describe a case of sarcoidosis with radiographic findings in the nails and distal phalangeal tufts, which were indicative of nail and osseous sarcoid involvement and strongly supported the presence of chronic systemic disease. Although the nail findings resolved clinically and on radiographs after treatment, the osseous findings showed only minimal improvement. To our knowledge, the radiographic findings of nail sarcoidosis have not been previously addressed in the literature. PMID:26768259

  20. Clinical Manifestations and Management of Dengue/DHF/DSS.

    PubMed

    Kalayanarooj, Siripen

    2011-12-01

    Dengue is one of the most important mosquito-borne viral illnesses. The first DHF outbreak was reported from the Philippines in 1953. Initially it was endemic only in Southeast Asia and the Western Pacific regions. After about 50 years from the first outbreak, it spread globally to almost every continent including North and South America, Australia and Africa. The majority of cases during the 50s to 80s were children, but today the disease affects both children and adults of all age groups. The disease is caused by dengue viruses that have four serotypes: dengue 1, dengue 2, dengue 3 and dengue 4. Primary infection usually results in milder illness, while more severe disease occurs in cases of repeated infection with different serotypes. In this paper clinical manifestations and management of dengue/DHF/DSS are summarized. PMID:22500140

  1. Neonatal manifestations of inherited bone marrow failure syndromes.

    PubMed

    Khincha, Payal P; Savage, Sharon A

    2016-02-01

    The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia, confer risks of multiple medical complications later in life, including an increased risk of cancer. Some IBMFS may present with cytopenias in the neonatal period whereas others may present only with congenital physical abnormalities and progress to pancytopenia later in life. A thorough family history and detailed physical examination are integral to the work-up of any neonate in whom there is a high index of suspicion for an IBMFS. Correct detection and diagnosis of these disorders is important for appropriate long-term medical surveillance and counseling not only for the patient but also for appropriate genetic counselling of their families regarding recurrence risks in future children and generations. PMID:26724991

  2. Oral manifestations of connective tissue disease and novel therapeutic approaches.

    PubMed

    Heath, Kenisha R; Rogers, Roy S; Fazel, Nasim

    2015-01-01

    Connective tissue diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and Sjgren syndrome (SS) have presented many difficulties both in their diagnosis and treatment. Known causes for this difficulty include uncertainty of disease etiology, the multitude of clinical presentations, the unpredictable disease course, and the variable cell types, soluble mediators, and tissue factors that are believed to play a role in the pathogenesis of connective tissue diseases. The characteristic oral findings seen with these specific connective tissue diseases may assist with more swift diagnostic capability. Additionally, the recent use of biologics may redefine the success rate in the treatment and management of the disease. In this review we describe the oral manifestations associated with SLE, SSc, and SS and review the novel biologic drugs used to treat these conditions. PMID:26632801

  3. Risk factors for tuberculosis and specific manifestations of disease.

    PubMed

    Zielonka, Tadeusz M

    2014-01-01

    In countries with good epidemiological situation, incidence of tuberculosis (TB) is relatively high in immigrants, prisoners, the homeless and unemployed. In a number of regions, co-infection of Mycobacterium tuberculosis and HIV raises difficulties in controlling TB epidemic. A problematic issue is also drug resistance, especially in the countries of the former Union of Soviet Socialist Republics (USSR). Neither co-infection of M.tuberculosis and HIV nor drug resistance are of special concern in Poland. Incidence of extrapulmonary TB is very diverse (6-44%), however, in Poland such manifestation of tuberculosis is diagnosed rarely. There is a necessity of monitoring local epidemiological trends and developing appropriate diagnostic and therapeutic models for better control of infection. PMID:25848783

  4. Cutaneous manifestations in children with diabetes mellitus and obesity.

    PubMed

    Baselga Torres, E; Torres-Pradilla, M

    2014-01-01

    Obesity and diabetes are chronic diseases that affect people all over the world, and their incidence is increasing in both children and adults. Clinically, they affect a number of organs, including the skin. The cutaneous manifestations caused or aggravated by obesity and diabetes are varied and usually bear some relation to the time that has elapsed since the onset of the disease. They include soft fibromas, acanthosis nigricans, striae, xerosis, keratosis pilaris, plantar hyperkeratosis, fungal and bacterial skin infections, granuloma annulare, necrobiosis lipoidica, psoriasis, and atopic dermatitis. In this review article we present the skin changes found in children with diabetes mellitus and obesity and related syndromes and highlight the importance of the skin as a tool for establishing clinical suspicion and early diagnosis of systemic disease. PMID:24698434

  5. Oral manifestations of thyroid disorders and its management

    PubMed Central

    Chandna, Shalu; Bathla, Manish

    2011-01-01

    The thyroid is the major regulator of metabolism and affects all of the bodily functions. Thyroid dysfunction is the second most common glandular disorder of the endocrine system which may rear its head in any system in the body including the mouth. The oral cavity is adversely affected by either an excess or deficiency of these hormones. Before treating a patient who has thyroid disorder, the endocrinologist needs to be familiar with the oral manifestations of thyroid dysfunctions. The patient with a thyroid dysfunction, as well as the patient taking medications for it, requires proper risk management before considering dental treatment by the dentist. Thus, communication of dentist with endocrinologist must be bidirectional, to maintain patient's oral and thyroid health. PMID:21966646

  6. Hypertrophic osteoarthropathy manifested with isolated calcaneal periostitis in bone scintigraphy.

    PubMed

    Moralidis, Efstratios; Gerasimou, Georgios; Theodoridou, Athina; Hilidis, Ilias; Mylonaki, Efrosyni; Gotzamani-Psarrakou, Anna

    2010-05-01

    Hypertrophic osteoarthropathy (HOA) is an incompletely understood syndrome characterized by digital clubbing and periosteal proliferation of long bones and it is commonly associated with primary lung tumors. Bone scintigraphy is a sensitive method in detecting HOA and characteristic findings have been reported. We present the case of a man with newly diagnosed non-small cell lung cancer, unremarkable clinical examination and blood tests and no digital clubbing. During disease staging, however, bone scintigraphy showed intense calcaneal cortical proliferation bilaterally without involvement of other parts of the skeleton. Cortical reaction of both calcanei resolved significantly after chemotherapy. This case indicates that HOA may manifest with isolated calcaneal periostitis bilaterally, which is a new addition to the literature. PMID:20127294

  7. Castleman Disease: A Rare Condition with Endocrine Manifestations

    PubMed Central

    Correa, Ricardo

    2015-01-01

    Castleman disease (CD) most commonly affects lymphoid tissues in the thorax, abdomen, pelvis, and neck. Extralymphatic tissues, such as lacrimal glands, lung, pancreas, larynx, parotid, meninges, and even muscles, have also been reported as sites. The etiology is unknown and its incidence has not been reported in the literature. Castleman disease can be classified clinically into a unicentric or multicentric form, depending on the number of lymph nodes involved, and histologically into a hyaline vascular variant, plasma cell, mixed cellular, or plasmablastic variant.The disease has a predominantly inflammatory background, reflected in high levels of vascular endothelial growth factor (VEGF) and interleukin-6 (IL-6). The role of cytokines in CD explains the clinical presentation.The clinical scenario varies widely, based mainly on the histologic type. Unicentric CD usually presents without symptomatology, whereas multicentric manifests with fatigue, abdominal or thoracic pain, cytopenias, and/or B- symptoms (10% weight loss in the last six months, nocturnal diaphoresis, and fever). The endocrinopathy has a wide range of manifestations, affecting either the pituitary or other target organs.Achieving the diagnosis is complicated and there is no laboratory or imaging pathognomonic for this disease. The gold standard is an excisional biopsy from an affected lymph node. The treatment depends on the type of CD. Unicentric CD has a good response to excisional surgery. However, in multicentric CD (MCD), surgery may provide transient relief of symptoms but with a rebound effect, so it is not considered a good method. The use of chemotherapy, monoclonal antibodies, glucocorticoids, and thalidomide has shown some improvement in MCD. PMID:26719823

  8. Clinical Manifestations among Children with Chronic Functional Constipation

    PubMed Central

    Dehghani, Seyed Mohsen; Kulouee, Niloofar; Honar, Naser; Imanieh, Mohammad-Hadi; Haghighat, Mahmood; Javaherizadeh, Hazhir

    2015-01-01

    BACKGROUND Constipation is one of the most frequent cause of patient visits to pediatric gastroenterology clinics. Early diagnosis and treatment is important. There are few studies about clinical manifestations of constipation in children. We aimed to find the relative frequency of gastrointestinal manifestations of constipation among constipated children. METHODS This cross-sectional study was carried out on children aged < 18 years old with chronic functional constipation referred to Imam Reza Clinic of Shiraz University of Medical Sciences. Children with organic causes of chronic constipation were excluded from study. Rome III criteria were used for defining constipation. The duration of study was 1 year starting from September 2010. Abdominal pain, fecal mass, rectal bleeding, anorexia, fecal soiling, retentive posture, withholding behavior, anal fissure, and peri-anal erythema were recorded for each case based on history and physical examination. Data were analyzed using SPSS software, version 13.0 (Chicago, IL, USA). RESULTS Of 222 children with functional constipation, 124(55.9%) were girls and 98 (44.1%) were boys with a mean ± SD age of 5±3.12 years. The mean ± SD duration of constipation was 2.2±1.9 years. Large and hard stool was present in 93.7% of the patients. Painful defecation and withholding behavior were seen in 92.3% and 91.9% of the patients, respectively. Fecal impaction was more frequent among boys compared with girls (p<0.01). Fecal soiling was present in 40.8% of the boys and 28.2% of the girls (p=0.04). CONCLUSION Large and hard stool, painful defecation and withholding behavior were the most frequent signs or symptoms among children with chronic functional constipation. Fresh rectal bleeding and anal fissure were the least frequent signs and symptoms in this group. PMID:25628851

  9. Neuroradiological Manifestations of Hereditary Hemorrhagic Telangiectasia in 139 Japanese Patients

    PubMed Central

    KOMIYAMA, Masaki; TERADA, Aiko; ISHIGURO, Tomoya; WATANABE, Yusuke; NAKAJIMA, Hideki; YAMADA, Osamu; MORISAKI, Hiroko

    The purpose of this study is to report the neuroradiological manifestations of hereditary hemorrhagic telangiectasia (HHT). One hundred and thirty-nine Japanese HHT patients (73 men and 66 women, aged 278 years) were included in this study. Diagnosis of HHT was based on genetic analysis and/or clinical diagnosis of Curaao. They included 68 HHT1 and 37 HHT2 patients. Essentially, all patients underwent brain magnetic resonance imaging (MRI) and pulmonary computed tomography (CT). Contrast enhanced studies of brain MRI and hepatic CT were performed in a subset of patients. Catheter cerebral angiography was performed when indicated. Their neuroradiological features were reviewed retrospectively. Various imaging abnormalities were found. Brain arteriovenous malformations (AVMs) were observed in 27/136 patients (19.9%, 21 patients with HHT1 and 1 patient with HHT2). Pulmonary arteriovenous fistulas (AVFs) were found in 73/137 patients (65.2%, 45 patients with HHT1 and 6 patients with HHT2). Cerebral infarction and brain abscess were found in 17 patients and 3 patients with pulmonary AVFs, respectively. T1 high lesions in the basal ganglia suggestive of porto-venous shunts were observed in 51/136 patients (37.5%, 9 patients with HHT1 and 28 patients with HHT2). Hepatic AVMs were observed in 61/136 patients (44.9%, 15 patients in HHT1 and 29 patients in HHT2). Brain AVMs and pulmonary AVFs were more common in HHT1 than in HHT2 (both p < 0.01), but hepatic AVMs were conversely more common in HHT2 than in HHT1 (p < 0.01). In conclusion, HHT patients present with a variety of neuroradiological manifestations, which are related to substantial causes of morbid-mortality in HHT. PMID:26041630

  10. Characteristics and Clinical Manifestations of Pigmented Purpuric Dermatosis

    PubMed Central

    Kim, Dai Hyun; Seo, Soo Hong; Ahn, Hyo Hyun; Kye, Young Chul

    2015-01-01

    Background Pigmented purpuric dermatoses (PPD) are a spectrum of disorders characterized by a distinct purpuric rash. Although PPD can be easily diagnosed, the disease entity remains an enigma and a therapeutic challenge. Objective The purpose of this study was to investigate the characteristics and clinical manifestations of PPD and to elucidate the relationship between assumed etiologic factors and the clinical manifestations of PPD and treatment responses. Methods Retrograde analyses were performed to identify appropriate PPD patients who visited Korea University Medical Center Anam Hospital from 2002 to 2012. Results Information on 113 patients with PPD was analyzed, and 38 subjects with skin biopsy were included for this study. Schamberg's disease was the most frequent clinical type (60.5%). Concomitant diseases included hypertension (15.8%), diabetes (10.5%), and others. Associated medication histories included statins (13.2%), beta blockers (10.5%), and others. Possibly associated etiologic factors were recent upper respiratory infection (5.3%), high orthostatic pressure due to prolonged standing (2.6%), and strenuous exercise (2.6%). A total of 36 patients (94.7%) were treated with one or more treatment methods, including oral antihistamines, pentoxifylline, topical steroids, and/or phototherapy. There was no significant difference in disease progress according to underlying diseases, medications, or association factors (p>0.05). Conclusion Our overall results were grossly consistent with the existing literature, excluding several findings. Although a possible relationship between PPD and cardiovascular disease or cardiovascular medication was proposed at the beginning of the study, no statistically significant correlations were found according to the specific clinical types and treatment responses (p>0.05). PMID:26273156

  11. Castleman Disease: A Rare Condition with Endocrine Manifestations.

    PubMed

    Cervantes, Carmen E; Correa, Ricardo

    2015-01-01

    Castleman disease (CD) most commonly affects lymphoid tissues in the thorax, abdomen, pelvis, and neck. Extralymphatic tissues, such as lacrimal glands, lung, pancreas, larynx, parotid, meninges, and even muscles, have also been reported as sites. The etiology is unknown and its incidence has not been reported in the literature. Castleman disease can be classified clinically into a unicentric or multicentric form, depending on the number of lymph nodes involved, and histologically into a hyaline vascular variant, plasma cell, mixed cellular, or plasmablastic variant.The disease has a predominantly inflammatory background, reflected in high levels of vascular endothelial growth factor (VEGF) and interleukin-6 (IL-6). The role of cytokines in CD explains the clinical presentation.The clinical scenario varies widely, based mainly on the histologic type. Unicentric CD usually presents without symptomatology, whereas multicentric manifests with fatigue, abdominal or thoracic pain, cytopenias, and/or B- symptoms (10% weight loss in the last six months, nocturnal diaphoresis, and fever). The endocrinopathy has a wide range of manifestations, affecting either the pituitary or other target organs.Achieving the diagnosis is complicated and there is no laboratory or imaging pathognomonic for this disease. The gold standard is an excisional biopsy from an affected lymph node. The treatment depends on the type of CD. Unicentric CD has a good response to excisional surgery. However, in multicentric CD (MCD), surgery may provide transient relief of symptoms but with a rebound effect, so it is not considered a good method. The use of chemotherapy, monoclonal antibodies, glucocorticoids, and thalidomide has shown some improvement in MCD. PMID:26719823

  12. Aspergillus Osteomyelitis: Epidemiology, Clinical Manifestations, Management, and Outcome

    PubMed Central

    Gamaletsou, Maria N.; Rammaert, Blandine; Bueno, Marimelle A.; Moriyama, Brad; Sipsas, Nikolaos V.; Kontoyiannis, Dimitrios P.; Roilides, Emmanuel; Zeller, Valerie; Prinapori, Roberta; Tajaldeen, Saad Jaber; Brause, Barry; Lortholary, Olivier; Walsh, Thomas J.

    2014-01-01

    Background The epidemiology, pathogenesis, diagnosis, and management of Aspergillus osteomyelitis are not well understood. Methods Protocol-defined cases of Aspergillus osteomyelitis published in the English literature were reviewed for comorbidities, microbiology, mechanisms of infection, clinical manifestations, radiological findings, inflammatory biomarkers, antifungal therapy, and outcome. Results Among 180 evaluable patients, 127 (71%) were males. Possible predisposing medical conditions in 103 (57%) included pharmacological immunosuppression, primary immunodeficiency, and neutropenia. Seventy-three others (41%) had prior open fracture, trauma or surgery. Eighty (44%) followed a hematogenous mechanism, 58 (32%) contiguous infections, and 42 (23%) direct inoculation. Aspergillus osteomyelitis was the first manifestation of aspergillosis in 77%. Pain and tenderness were present in 80%. The most frequently infected sites were vertebrae (46%), cranium (23%), ribs (16%), and long bones (13%). Patients with vertebral Aspergillus osteomyelitis had more previous orthopedic surgery (19% vs 0%; P=0.02), while those with cranial osteomyelitis had more diabetes mellitus (32% vs 8%; P=0.002) and prior head/neck surgery (12% vs 0%; P=0.02). Radiologic findings included osteolysis, soft-tissue extension, and uptake on T2-weighted images. Vertebral body Aspergillus osteomyelitis was complicated by spinal-cord compression in 47% and neurological deficits in 41%. Forty-four patients (24%) received only antifungal therapy, while 121(67%) were managed with surgery and antifungal therapy. Overall mortality was 25%. Median duration of therapy was 90 days (range, 10772 days). There were fewer relapses in patients managed with surgery plus antifungal therapy in comparison to those managed with antifungal therapy alone (8% vs 30%; P=0.006). Conclusions Aspergillus osteomyelitis is a debilitating infection affecting both immunocompromised and immunocompetent patients. The most common sites are vertebrae, ribs, and cranium. Based upon this comprehensive review, management of Aspergillus osteomyelitis optimally includes antifungal therapy and selective surgery to avoid relapse and to achieve a complete response. PMID:24378282

  13. Neurological manifestations and toxicities of the antituberculosis drugs. A review.

    PubMed

    Holdiness, M R

    1987-01-01

    The neurological manifestations and toxicities of 12 antituberculosis drugs [isoniazid, rifampicin (rifampin), ethambutol, p-aminosalicylic acid, pyrazinamide, streptomycin, kanamycin, ethionamide, cycloserine, capreomycin, viomycin and thiacetazone] are reviewed. Their effects upon the central nervous system, cranial nerves, peripheral nerves and the neuromuscular junction are examined, and drug interactions of neurological concern are briefly discussed. Isoniazid is well known to increase the concentrations of gamma-aminobutyric acid in neural tissues. Although conflicting data have been published, isoniazid may play a limited future role in reducing the degree of adventitious movements noted in certain neurological diseases such as multiple sclerosis, spasmodic torticollis, and other segmental dystonic syndromes. With rifampicin neurological complications have been observed infrequently. Rifampicin penetrates into the CSF and has been shown to have useful activity against various micro-organisms in the CSF, including certain viruses; however, contrary to earlier suggestions, it appears to have no role in the treatment of subacute sclerosing panencephalitis. A number of studies have indicated that isoniazid is associated with a large number of accidental and intentional poisonings. The highest incidence has been observed with Southwestern American Indians in which this agent was involved in 7% of all suicide attempts and 19% of the suicide deaths. Degeneration of the optic chiasma and nerve is a well-known adverse effect of ethambutol; toxicity is manifested by impairment of visual acuity, marked loss of colour discrimination, constricted visual fields, and central and peripheral scotoma. Ototoxicity is a well known problem caused by streptomycin, kanamycin, capreomycin and viomycin. The use of streptomycin in pregnant mothers is associated with congenital deafness in newborns in certain cases. The aminoglycoside antibiotics are also associated with flaccid paralysis following neuromuscular blockade. Adverse reactions to cycloserine are mainly dose-related with neurological and psychiatric syndromes noted in up to 50% of patients. Recent data indicate that isoniazid, rifampicin, ethambutol, pyrazinamide, streptomycin, kanamycin, ethionamide, and cycloserine appear in measurable quantities in the cerebrospinal fluid. Five of these compounds (isoniazid, rifampicin, ethambutol, kanamycin, cycloserine) pass to some degree through non-inflamed meninges. Other than discontinuation of the therapeutic regimen and general supportive measures, very few methods are described in the literature for treatment of acute intoxications with antituberculosis drugs. PMID:3547005

  14. Stability and its manifestation in the chemical and biological worlds.

    PubMed

    Pascal, Robert; Pross, Addy

    2015-11-21

    Bridging between the phenomenologically distinct biological and physical worlds has been a major scientific challenge since Boltzmann's probabilistic formulation of the second law of thermodynamics. In this review we summarize our recent theoretical attempts to bridge that divide through analysis of the thermodynamic-kinetic interplay in chemical processes and the manner in which that interplay impacts on material stability. Key findings are that the term 'stability' manifests two facets - time and energy - and that stability's time facet, expressed as persistence, is more general than its energy facet. That idea, together with the proposed existence of a logical law of nature, the persistence principle, leads to the mathematically-based insight that stability can come about through either Boltzmann's probabilistic considerations or Malthusian kinetics. Two mathematically-based forms of material persistence then lead directly to the physical likelihood of two material forms, animate and inanimate. Significantly, the incorporation of kinetic considerations into the stability concept appears to bring us closer to enabling two of the central theories in science - the second law of thermodynamics and Darwin's theory of evolution - to be reconciled within a single conceptual framework. PMID:26465292

  15. Clinical manifestations of HIV infection in children at Enugu, Nigeria.

    PubMed

    Emodi, I J; Okafor, G O

    1998-04-01

    Three-hundred-and-fifty-eight (358) pediatric patients below 16 years of age were screened for suspected human immunodeficiency virus (HIV) infection between October 1989 and September 1996. Eighty-three (23 per cent) were confirmed positive. However, adequate clinical data were obtained retrospectively in only 63 patients. Twenty-three (37 per cent) of the patients presented with features corresponding to WHO case definition of Paediatric Acquired Immunodeficiency syndrome (AIDS) in Africa. Vertical mode of infection was documented in 13 (30 per cent) of them while 30 (68 per cent) were infected through blood transfusion. The main clinical features at presentation were generalised lymphadenopathy (59 per cent), persistent or recurrent fever (51 per cent), progressive weight loss or poor weight gain (51 per cent), chronic diarrhoea (38 per cent), various skin manifestations (37 per cent), persistent cough (32 per cent), and oral candidiasis (19 per cent). Six patients died during the initial admission, while majority were lost to follow-up. PMID:9604592

  16. Cutaneous manifestations of primary immunodeficiency diseases in children.

    PubMed

    Moin, Athar; Farhoudi, Abolhassan; Moin, Mostafa; Pourpak, Zahra; Bazargan, Nasrin

    2006-09-01

    Primary immunodeficiency diseases (PIDs) are rare but include severe conditions found predominantly in children, Most PIDs have cutaneous manifestations that may be important as early diagnostic features. The purpose of this study was to determine the frequency and nature of cutaneous alterations associated with PIDs. This article is a cross-sectional study at the department of allergy and clinical immunology of children's medical center conducted between December 5, 2001 and April 20, 2002. The subjects included pediatric patients with a diagnosis of PID and dermatological diagnoses were made by a dermatologist. Two hundred and ten patients were studied They consisted of 68 cases of humoral deficiency, 22 cases of cellular and combined deficiencies, 57 cases of phagocytic defects and 63 cases of other PIDs. In 67 cases (31.8%) the cutaneous alterations preceded and were the basis for clinical immunological diagnosis. Overall cutaneous alterations were infections in 99 cases and eczematous dermatitis in 27 cases. Our findings support the results of other studies that most PIDs have cutaneous features which being their typical aspects are highly suggestive for the diagnosis of PIDs. PMID:17237563

  17. Skin manifestations in CD4+, CD56+ malignancies.

    PubMed

    Penven, Katell; Macro, Margaret; Salaun, Véronique; Comoz, François; Reman, Oumedaly; Leroy, Dominique; Troussard, Xavier; Petrella, Tony; Dompmartin, Anne

    2003-01-01

    CD4+ CD56+ hematologic neoplasms were recently individualized. We report three cases of CD4+ CD56+ malignancies with cutaneous lesions in three cases and also bone marrow involvement in two cases. Two patients relapsed 2 and 3 months after polychemotherapy. Two patients died within 3-10 months. A constant immunophenotype was observed with the co-expression of CD4 and CD56, the absence of B and T-cell markers. The salient fact of this report is the presence of T-cell clonal rearrangement. The clinical and pathological features closely resemble the specific cutaneous manifestations in acute leukemia with monocytic differentiation, especially the granulocytic sarcoma. Because of the positivity of the CD56, natural killer cell proliferations were discussed. Since 1994, 50 cases of CD4+, CD56+ cutaneous neoplasms have been reported with specific clinical, cytologic and immunohistochemical features. The diagnosis is more difficult when the cutaneous location is exclusive; on the contrary, the cytological features of the blood and medullar cells with cytoplasmic vacuoles and pseudopodia are characteristic of this hematologic neoplasm. The presence of CD123 antigen in most of the cases is an argument for a plasmacytoid dendritic cell proliferation and it is also a good marker for primary cutaneous lesions. PMID:12695132

  18. New clinical trials for nonmotor manifestations of Parkinson's disease.

    PubMed

    Schrag, Anette; Sauerbier, Anna; Chaudhuri, Kallol Ray

    2015-09-15

    Nonmotor manifestations in Parkinson's disease (PD) encompass a range of clinical features, including neuropsychiatric problems, autonomic dysfunction, sleep disorders, fatigue, and pain. Despite their importance for patients' quality of life, the evidence base for their treatment is relatively sparse. Nevertheless, the last few years have seen a number of new trials starting that specifically address nonmotor features as an outcome measure in clinical trials. Large randomized, controlled trials in the last 3 years reported improvement of psychosis with the new selective serotonin 5-HT2A inverse agonist pimavanserin and of postural hypotension with the oral norepinephrine precursor droxidopa. Smaller new randomized, controlled trials support the effectiveness of Deep Brain Stimulation and opiates for pain, of rivastigmine for apathy and piribedil for apathy post-DBS, group cognitive behavioral therapy for depression and/or anxiety, continuous positive airway pressure for sleep apnea in PD and doxepin for insomnia, and of solifenacin succinate and transcutaneous tibial nerve stimulation for urinary symptoms. A number of new smaller or open trials as well as post-hoc analyses of randomized, controlled trials have suggested usefulness of other treatments, and new randomized, controlled trials are currently ongoing. PMID:26371623

  19. Oro-facial manifestations of 100 leprosy patients

    PubMed Central

    Taheri, Jamileh B.; Moshfeghi, Mahkameh; Bakhshi, Mahin; Bakhtiari, Sedigheh; Azari-Marhabi, Saranaz; Alirezaei, Somayeh

    2012-01-01

    Objectives: To verify the frequency of oral and facial involvement in diagnosed leprosy patients. Study design: This study was performed on 100 leprosy patients (62 male, 38 female, mean ages 51.866.1). After explaining the study design, we studied descriptive information including: patients sex, age, job, place of birth, familial history of leprosy, types of disease (lepromatous, borderline and tuberculoid leprosy), ocular and oral lesions, facial involvement and neuropathy. The statistical signification was measured by chi-square test. Results: A total of 46 (23 lepromatous, 15 borderline, and 8 tuberculoid leproy) out of 100 patients with leprosy had oral lesions. Statistical analysis did not show any significant difference in frequency of oral lesions between different types of disease. Facial lesions were presented in 57 (39 lepromatous, 10 borderline, and 8 tuberculoid leprosy) patients. There was a statistical significant difference in frequency of facial manifestations between different types of leprosy. It has to be mentioned that, atrophy of nasal spine, facial nerve involvement, ocular lesions and facial deformity were seen in 15%, 17%, 22% and 44% of leprosy patients, respectively. Conclusion: Examination of leprosy patients should be extended to the oral mucosa because oral mucosa may be a secondary source of M.Leprae transmission and infection. Key words:Leprosy, lepromatous, tuberculoid, oral lesions, facial lesions. PMID:22322502

  20. Respiratory manifestations of panic disorder: causes, consequences and therapeutic implications.

    PubMed

    Sardinha, Aline; Freire, Rafael Christophe da Rocha; Zin, Walter Araújo; Nardi, Antonio Egidio

    2009-07-01

    Multiple respiratory abnormalities can be found in anxiety disorders, especially in panic disorder (PD). Individuals with PD experience unexpected panic attacks, characterized by anxiety and fear, resulting in a number of autonomic and respiratory symptoms. Respiratory stimulation is a common event during panic attacks. The respiratory abnormality most often reported in PD patients is increased CO2 sensitivity, which has given rise to the hypothesis of fundamental abnormalities in the physiological mechanisms that control breathing in PD. There is evidence that PD patients with dominant respiratory symptoms are more sensitive to respiratory tests than are those who do not manifest such symptoms, and that the former group constitutes a distinct subtype. Patients with PD tend to hyperventilate and to panic in response to respiratory stimulants such as CO2, triggering the activation of a hypersensitive fear network. Although respiratory physiology seems to remain normal in these subjects, recent evidence supports the idea that they present subclinical abnormalities in respiration and in other functions related to body homeostasis. The fear network, composed of the hippocampus, the medial prefrontal cortex, the amygdala and its brain stem projections, might be oversensitive in PD patients. This theory might explain why medication and cognitive-behavioral therapy are both clearly effective. Our aim was to review the relationship between respiration and PD, addressing the respiratory subtype of PD and the hyperventilation syndrome, with a focus on respiratory challenge tests, as well as on the current mechanistic concepts and the pharmacological implications of this relationship. PMID:19669009

  1. Fraser syndrome-oral manifestations and a dental care protocol.

    PubMed

    de Oliveira, Talita Lopes; de Sant'Anna, Giselle Rodrigues

    2014-01-01

    Fraser syndrome is a rare genetic malformation with an autosomal recessive pattern of inheritance and an incidence of consanguinity ranging from 15% to 25%. A 5-year-old male patient who is a carrier of Fraser syndrome initiated treatment in the pediatric dentistry sector. The patient was fed parenterally since birth, experienced recurring bouts of chronic lung disease, and was referred to the pediatric dentistry sector by the medical team. Radiographic examination revealed the presence of all permanent teeth. Supragingival dental calculus, halitosis, and gingival inflammation were also observed. Dental calculus was removed by manual scraping, and chemotherapeutic agents were used, chlorhexidine 0,12%, chlorhexidine gel 2%, and PVP-I, to control the bacterial flora. The patient is still being monitored after an 8-year follow-up period, the complications associated with periodontal disease decreased, and since the initiation of treatment, the patient has not needed to be hospitalized because of chronic lung disease. This study reports the case of a patient diagnosed with Fraser syndrome and describes the clinical manifestations (general and oral). PMID:25587460

  2. Severe Abdominal Pain as the First Manifestation of Rabies

    PubMed Central

    Ayatollahi, Jamshid; Sharifi, Mohammad Reza; Shahcheraghi, Seyed Hossein

    2014-01-01

    Introduction: Rabies is an acute fatal viral disease that is generally transmitted from animals to humans following wild and domestic animal bites. The rabies virus enters the body from the area where the individual is bitten, and then the virus moves towards the brain and involves the nerves. Case Presentation: During the years 2001-2011, there have been 73 reported rabies cases. About 50,000 reported human deaths are annually due to rabies. The actual number of human deaths due to rabies in Asia especially India, Pakistan and Bangladesh are more than these numbers, since there is no advanced surveillance system for disease control to determine the actual number of infected and fatal human cases. According to the World Health Organization (WHO) reports, more than 10 million people who are bitten by animals are annually treated by prophylactic treatment regimens for rabies, worldwide. Conclusions: This paper reports on a case of human rabies with the first disease manifestation (severe abdominal pain). The patient reported extensive biting on his left leg by a dog. He had a slight fever of 38.1C. It has been recommended that a careful history should be taken from patients for diagnosis of rabies disease. A complete history should be taken from patients for diagnosis of disease, because rabies could be wrong with various diseases with atypical symptoms. because various diseases with atypical symptoms or long incubation periods can visit. PMID:25485053

  3. Mycobacterium haemophilum infection with prominent facial manifestation mimicking leprosy.

    PubMed

    Ishii, Kentaro; Ishii, Norihisa; Nakanaga, Kazue; Nakano, Kazuaki; Saito, Ikuo; Asahina, Akihiko

    2015-10-01

    Mycobacterium haemophilum is a slow-growing non-tuberculous mycobacterium that is rarely known to cause human skin infection, particularly in immunocompromised patients. We recently experienced a 69-year-old Japanese woman with this infection who had been under immunosuppressive treatment for recalcitrant rheumatoid arthritis. The patient showed disseminated erythematous plaques and subcutaneous nodules on the face and extremities, and interestingly, the face manifested with a striking "facies leontina" appearance. Biopsy revealed abscess and granulomatous dermatitis with the involvement of peripheral nerve bundles and the presence of innumerable acid-fast bacilli, thus necessitating differentiation from lepromatous leprosy. M.haemophilum was identified by molecular characterization as well as by successful culture with iron supplements. Although drug susceptibility testing indicated responsiveness to multiple antibiotics administrated simultaneously for the treatment, it took over 6months to achieve significant improvement, and we also employed concurrent oral potassium iodide administration and repeated surgical excision. This case highlights the importance of continuous combination therapy for successful outcome in this rare infection. Furthermore, application of potassium iodide for mycobacterial infection warrants further evaluation by accumulating more cases. PMID:26017241

  4. Epidemiology and clinical manifestations of enteroaggregative Escherichia coli.

    PubMed

    Hebbelstrup Jensen, Betina; Olsen, Katharina E P; Struve, Carsten; Krogfelt, Karen Angeliki; Petersen, Andreas Munk

    2014-07-01

    Enteroaggregative Escherichia coli (EAEC) represents a heterogeneous group of E. coli strains. The pathogenicity and clinical relevance of these bacteria are still controversial. In this review, we describe the clinical significance of EAEC regarding patterns of infection in humans, transmission, reservoirs, and symptoms. Manifestations associated with EAEC infection include watery diarrhea, mucoid diarrhea, low-grade fever, nausea, tenesmus, and borborygmi. In early studies, EAEC was considered to be an opportunistic pathogen associated with diarrhea in HIV patients and in malnourished children in developing countries. In recent studies, associations with traveler's diarrhea, the occurrence of diarrhea cases in industrialized countries, and outbreaks of diarrhea in Europe and Asia have been reported. In the spring of 2011, a large outbreak of hemolytic-uremic syndrome (HUS) and hemorrhagic colitis occurred in Germany due to an EAEC O104:H4 strain, causing 54 deaths and 855 cases of HUS. This strain produces the potent Shiga toxin along with the aggregative fimbriae. An outbreak of urinary tract infection associated with EAEC in Copenhagen, Denmark, occurred in 1991; this involved extensive production of biofilm, an important characteristic of the pathogenicity of EAEC. However, the heterogeneity of EAEC continues to complicate diagnostics and also our understanding of pathogenicity. PMID:24982324

  5. Fraser Syndrome-Oral Manifestations and a Dental Care Protocol

    PubMed Central

    de Oliveira, Talita Lopes; de Sant'Anna, Giselle Rodrigues

    2014-01-01

    Fraser syndrome is a rare genetic malformation with an autosomal recessive pattern of inheritance and an incidence of consanguinity ranging from 15% to 25%. A 5-year-old male patient who is a carrier of Fraser syndrome initiated treatment in the pediatric dentistry sector. The patient was fed parenterally since birth, experienced recurring bouts of chronic lung disease, and was referred to the pediatric dentistry sector by the medical team. Radiographic examination revealed the presence of all permanent teeth. Supragingival dental calculus, halitosis, and gingival inflammation were also observed. Dental calculus was removed by manual scraping, and chemotherapeutic agents were used, chlorhexidine 0,12%, chlorhexidine gel 2%, and PVP-I, to control the bacterial flora. The patient is still being monitored after an 8-year follow-up period, the complications associated with periodontal disease decreased, and since the initiation of treatment, the patient has not needed to be hospitalized because of chronic lung disease. This study reports the case of a patient diagnosed with Fraser syndrome and describes the clinical manifestations (general and oral). PMID:25587460

  6. Diffuse Lymphadenopathy as the Presenting Manifestation of SLE

    PubMed Central

    Smith, Lanaya Williams; Petri, Michelle

    2015-01-01

    We report the case of a 27 year old African-American man who presented with 6 months of generalized lymphadenopathy and nothing in his history or examination to suggest systemic lupus erythematosus. He was thought to have lymphoma, syphilis or tuberculosis and an extensive work up was done. Laboratory investigation finally revealed leukopenia (4.0), proteinuria (1.87grams), ANA (640 speckled), anti-dsDNA (640) , anticardiolipin IgG and IgM, anti-Smith, Coombs, anti-Ro, anti-La, CK (531U/L), aldolase (8.5 U/L), high erythrocyte sedimentation rate (130) and low complement (C3 15mg/dl and C4 3mg/dl). A kidney biopsy showed diffuse proliferative glomerulonephritis, ISN class IV. Generalized lymphadenopathy as the first and only manifestation for 6 months made the diagnosis of SLE challenging. Generalized diffuse lymphadenopathy has been associated with SLE, but is much less frequent now than in the past. The differential diagnosis of lymphadenopathy relevant to rheumatologists, includes Kikuchi histiocytic necrotizing lympadenitis, Castleman disease, syphilis, tuberculosis, sarcoidosis and lymphoma. PMID:24048114

  7. Adult Mitochondrial DNA Depletion Syndrome with Mild Manifestations

    PubMed Central

    Finsterer, Josef; G. Kovacs, Gabor; Ahting, Uwe

    2013-01-01

    Mitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, nonspecific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohns disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece), developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were noninformative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Realtime polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered. PMID:23888212

  8. Cytomegalovirus pneumonia as the first manifestation of severe combined immunodeficiency

    PubMed Central

    Jo?czyk-Potoczna, Katarzyna; Ossowska, Lidia; Br?borowicz, Anna; Bartkowska-?niatkowska, Alicja; Wachowiak, Jacek

    2014-01-01

    Severe combined immunodeficiency (SCID) is characterized by the absence of functional T lymphocytes and impairment of adaptive immunity. While heterogeneity of the genetic background in SCID leads to the variability of immune phenotypes, most of affected newborns appear healthy but within the first few months they develop life-threatening opportunistic respiratory or gastrointestinal tract infections. The objective of the study was to define the presenting features and etiology of infections in children with SCID. We retrospectively reviewed five children in whom the diagnosis of SCID had been established in our pediatric immunology clinic over the last 10-year period. A viral respiratory tract infection was the first manifestation of SCID in all the children studied. Cytomegalovirus (CMV) pneumonia was recognized in as many as 4 cases and coronavirus pulmonary infection was diagnosed in one case, whereas Pneumocystis jiroveci was identified as a co-pathogen in one CMV-infected patient. Severe combined immunodeficiency is a pediatric emergency condition and given the significant impact of pulmonary CMV infection in SCID children, establishing an accurate etiological diagnosis is of essential importance in instituting the specific treatment and improving the outcome. PMID:26155153

  9. Epidemiology and Clinical Manifestations of Enteroaggregative Escherichia coli

    PubMed Central

    Hebbelstrup Jensen, Betina; Olsen, Katharina E. P.; Struve, Carsten; Petersen, Andreas Munk

    2014-01-01

    SUMMARY Enteroaggregative Escherichia coli (EAEC) represents a heterogeneous group of E. coli strains. The pathogenicity and clinical relevance of these bacteria are still controversial. In this review, we describe the clinical significance of EAEC regarding patterns of infection in humans, transmission, reservoirs, and symptoms. Manifestations associated with EAEC infection include watery diarrhea, mucoid diarrhea, low-grade fever, nausea, tenesmus, and borborygmi. In early studies, EAEC was considered to be an opportunistic pathogen associated with diarrhea in HIV patients and in malnourished children in developing countries. In recent studies, associations with traveler's diarrhea, the occurrence of diarrhea cases in industrialized countries, and outbreaks of diarrhea in Europe and Asia have been reported. In the spring of 2011, a large outbreak of hemolytic-uremic syndrome (HUS) and hemorrhagic colitis occurred in Germany due to an EAEC O104:H4 strain, causing 54 deaths and 855 cases of HUS. This strain produces the potent Shiga toxin along with the aggregative fimbriae. An outbreak of urinary tract infection associated with EAEC in Copenhagen, Denmark, occurred in 1991; this involved extensive production of biofilm, an important characteristic of the pathogenicity of EAEC. However, the heterogeneity of EAEC continues to complicate diagnostics and also our understanding of pathogenicity. PMID:24982324

  10. Trypanosoma cruzi infection: a review with emphasis on cutaneous manifestations

    PubMed Central

    Hemmige, Vagish; Tanowitz, Herbert; Sethi, Aisha

    2013-01-01

    Chagas disease, an infection caused by the protozoan Trypanosoma cruzi and transmitted by the Reduuvid insect vector, remains a major cause of morbidity in Central and South America over a century after its discovery in 1909. Though major advances in preventing the spread of this disease have been made in recent decades, millions of individuals remain chronically infected due to prior exposure to T. cruzi and are at risk for future complications from the disease. Dermatologic manifestations of acute infection may include localized swelling at the site of inoculation (chagoma), conjunctivitis (Romaña’s sign), and a generalized morbilliform eruption (schizotrypanides). Reactivation of quiescent infection in immunocompromised hosts due to the acquired immunodeficiency syndrome or organ transplantation can present with fever and skin lesions including panniculitis. The wide-spread emigration of chronic carriers of T. cruzi to North America, Europe, and Australia makes it imperative that dermatologists worldwide be familiar with this entity to ensure proper diagnosis and treatment. PMID:22515575

  11. Linear antiferrodistortive-antiferromagnetic effect in multiferroics: Physical manifestations

    NASA Astrophysics Data System (ADS)

    Morozovska, Anna N.; Khist, Victoria V.; Glinchuk, Maya D.; Gopalan, Venkatraman; Eliseev, Eugene A.

    2015-08-01

    Using the theory of symmetry and the microscopic model we predict the possibility of a linear antiferrodistortive-antiferromagnetic effect in the perovskites with structural antiferrodistortive and antiferromagnetic long-range ordering and find the necessary conditions of its occurrence. The main physical manifestations of this effect are the smearing of the antiferromagnetic transition and the jump of the specific heat near it. In the absence of external fields, linear antiferrodistortive-antiferromagnetic coupling can induce a weak antiferromagnetic ordering above the Neel temperature, but below the temperature of antiferrodistortive transition. Therefore, there is the possibility of observing weak improper antiferromagnetism in multiferroics such as bismuth ferrite (BiFe O3 ) at temperatures T >TN , for which the Neel temperature TN is about 645 K, and the antiferrodistortive transition temperature is about 1200 K. The improper mechanism may explain the antiferromagnetic order existence well above TN in BiFeO3 revealed by optical second harmonic generation. By quantitative comparison to the experiment we made estimations of the linear antiferrodistortive-antiferromagnetic effect in the solid solutions of multiferroic B i1 -xRxFe O3 (R =La ,Nd ).

  12. Thoracic roentgenologic manifestations in primary carcinoma of the liver.

    PubMed

    Tsai, G L; Liu, J D; Siauw, C P; Chen, P H

    1984-09-01

    The most common extrahepatic metastasis of primary carcinoma of the liver is pulmonary metastasis. The discrepancy in the incidence of metastasis between clinical and postmortem series is quite obvious. The rapidly fatal course of hepatoma, the limitations of the chest x-ray film in detecting the small implantation, and incomplete follow-up of patients lead to the lower incidence in clinical series. From January 1974 to December 1982, there were 470 cases of primary carcinoma of the liver at Taipei Municipal Jen-Ai Hospital. Among them, we found 439 cases of hepatocellular carcinoma and 31 cases of cholangiocellular carcinoma. We also found 50 cases (11 percent) of hepatocellular carcinoma with pulmonary metastasis and ten cases (2 percent) of hepatocellular carcinoma with bone metastasis. Seven of the ten cases of bone metastasis were intrathoracic. Additionally, we found that it was rare to have pulmonary metastasis in cholangiocellular carcinoma; it only occurred once. Hematogenous and lymphatic spread and direct invasion are the principal ways for metastasis in primary hepatoma. Multiple nodulation and pleural effusion are the main manifestations in the chest x-ray film. Additionally, we saw lymphangitic carcinomatosis and miliary lesions in some of our patients. The common characteristic of these metastases is that most of the lesions arise from or are prominent in the right lower pulmonary field. Osteolysis appears in the patients with bone metastasis. Most of the metastases form a big protruding mass of tumor. PMID:6088178

  13. An unusual ultrasonographic manifestation of a fetal Ebstein anomaly

    PubMed Central

    Cha, Min-Young; Lee, Mi-Young; Woo, Kyung-Hee; Shim, Jae-Yoon

    2014-01-01

    An Ebstein anomaly is a rare congenital heart defect defined by an inferior displacement of the septal and posterior leaflets of the tricuspid valve from the tricuspid annulus. This anomaly shows various ultrasonographic manifestations, thus making the prenatal diagnosis sometimes difficult. We here report a rare case of an Ebstein anomaly which was prenatally suspected as the absence of the tricuspid valve with functional pulmonary atresia because of non-visible tricuspid leaflets on an echocardiograph at 24 weeks of gestation. An emergency cesarean section was performed at 35 weeks of gestation as fetal hydrops were seen on a follow-up scan. Postnatal surgery confirmed Ebstein anomaly type-D which demonstrates an almost complete atrialization of the right ventricle with the exception of a small and infundibular component. Because of its rarity, prenatal findings of a type-D Ebstein anomaly have not been reported previously. We suggest from this first such case report that this anomaly should be considered as a possible diagnosis when the tricuspid leaflets are not well visualized. PMID:25469344

  14. Renal manifestations of Dent disease and Lowe syndrome.

    PubMed

    Cho, Hee Yeon; Lee, Bum Hee; Choi, Hyun Jin; Ha, Il Soo; Choi, Yong; Cheong, Hae Il

    2008-02-01

    To date, two responsible genes for the development of Dent disease have been identified: CLCN5 and OCRL1. In this study, genotype-phenotype correlations were studied in patients with Dent disease and those with Lowe syndrome. Among the 12 boys with a phenotype typical of Dent disease, nine had a mutation in CLCN5 (Dent disease 1), two had a mutation in OCRL1 (Dent disease 2), and one had no mutations in either gene. All seven boys with a clinical diagnosis of Lowe syndrome had a mutation in OCRL1. Patients with Lowe syndrome showed more frequent hypophosphatemia/rickets and more prominent tubular proteinuria than patients with Dent disease 1, and patients with Dent disease 2 had higher degree of tubular proteinuria and hypercalciuria than patients with Dent disease 1. Additionally, one patient with Dent disease 2 showed a mild degree of developmental delay, elevated serum muscle enzyme levels, and cryptorchidism. In this study, the genetic heterogeneity in Dent disease and the phenotypic heterogeneity in Lowe syndrome were confirmed. In patients with Dent disease, the presence of the above-mentioned extrarenal manifestations indicates that it is more likely that the patient is affected by Dent disease 2 than by Dent disease 1. PMID:18038239

  15. Ocular manifestations of graft-versus-host disease.

    PubMed

    Nassar, Amr; Tabbara, Khalid F; Aljurf, Mahmoud

    2013-07-01

    Allogeneic hematopoietic stem cell transplantation (HSCT) has evolved over the past two decades to become the standard of care for hematologic and lymphoid malignancies. Major ocular complications after allogeneic HSCT have been increasing in number and severity. Graft-versus-host disease (GVHD) remains a major cause of ocular morbidity after allogeneic HSCT. The main objective of this review is to elucidate the ocular complications in patients developing GVHD following HSCT. Ocular complications secondary to GVHD are common and include dry eye syndrome, acquisition of ocular allergy from donors with allergic disorders. Eyelid changes may occur in GVHD leading to scleroderma-like changes. Patients may develop poliosis, madarosis, vitiligo, lagophthalmos, and entropion. The cornea may show filamentary keratitis, superficial punctate keratitis, corneal ulcers, and peripheral corneal melting which may lead to perforation in severe cases. Scleritis may also occur which can be anterior or posterior. Keratoconjunctivis sicca appears to be the most common presentation of GVHD. The lacrimal glands may be involved with mononuclear cell infiltration of both the major and accessory lacrimal glands and decrease in tear production. Severe dry eye syndrome in patients with GVHD may develop conjunctival scarring, keratinization, and cicatrization of the conjunctiva. Therapy of GVHD includes systemic immunosuppression and local therapy. Surgical treatment in refractory cases includes surgical intervention to improve the manifestation of GVHD of the eye. This may include tarsorrhapy, prose lenses, punctal occlusions and corneal transplantation. PMID:24227989

  16. Endocrine manifestations related to inherited metabolic diseases in adults

    PubMed Central

    2012-01-01

    Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.). IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects), and metal (hemochromatosis) and storage disorders (cystinosis). Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. Hypogonadotropic hypogonadism is frequent in haemochromatosis (often associated with diabetes), whereas primary hypogonadism is reported in Alström disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction) and galactosemia. Hypogonadism is also frequent in X-linked adrenoleukodystrophy (with adrenal failure), congenital disorders of glycosylation, and Fabry and glycogen storage diseases (along with thyroid dysfunction in the first 3 and diabetes in the last). This is a new and growing field and is not yet very well recognized in adulthood despite its consequences on growth, bone metabolism and fertility. For this reason, physicians managing adult patients should be aware of these diagnoses. PMID:22284844

  17. Structural manifestations of aging in Se-rich glasses

    NASA Astrophysics Data System (ADS)

    Dash, S.; Ravindren, S.; Chen, P.; Boolchand, P.

    2015-03-01

    We examine weakly cross-linked GexSe100-x (0%manifested. Work supported by NSF Grant DMR 08-53957.

  18. Neurological Manifestations in Parry–Romberg Syndrome: 2 Case Reports

    PubMed Central

    Vix, Justine; Mathis, Stéphane; Lacoste, Mathieu; Guillevin, Rémy; Neau, Jean-Philippe

    2015-01-01

    Abstract Parry–Romberg syndrome (PRS) is a variant of morphea usually characterized by a slowly progressive course. Clinical and radiological involvement of the central nervous system may be observed in PRS. We describe 2 patients with PRS and neurological symptoms (one with trigeminal neuralgia associated with deafness, and the second with hemifacial pain associated with migraine without aura) in conjunction with abnormal cerebral MRI including white matter T2 hyperintensities and enhancement with gadolinium. Despite the absence of specific immunosuppressive treatments, both patients have presented stable imaging during follow-up without any clinical neurologic progression. We have performed a large review of the medical literature on patients with PRS and neurological involvement (total of 129 patients) Central nervous system involvement is frequent among PRS patients and is inconsistently associated with clinical abnormalities. These various neurological manifestations include seizures, headaches, movement disorders, neuropsychological symptoms, and focal symptoms. Cerebral MRI may reveal frequent abnormalities, which can be bilateral or more often homolateral to the skin lesions, localized or so widespread so as to involve the whole hemisphere: T2 hyperintensities, mostly in the subcortical white matter, gadolinium enhancement, brain atrophy, and calcifications. These radiological lesions do not usually progress over time. Steroids or immunosuppressive treatments are controversial since it remains unclear to what extent they are beneficial and there is often no neurological progression. PMID:26181554

  19. [A case of multiple sclerosis manifesting piano playing movement].

    PubMed

    Nagano, T; Mizoi, R; Watanabe, I; Tomi, H; Sunohara, N

    1993-04-01

    We report a case of 33-year-old man with multiple sclerosis, showing piano playing movement in both hands. His course of multiple sclerosis was remittent/progressive during 2 years and the clinical manifestation suggested the spinal cord involvement. On July 15, 1991, he was admitted with numbness of the right limbs, and then developed piano playing movement in both hands, more marked in the right side. Neurological examination revealed mild weakness in the right upper extremity, and rough touch, pain, and temperature sensation were slightly decreased. However, there was no deep sensory abnormalities, such as vibration, fine touch, and position senses. Vibration sense was lost below ilium. CSF examination showed elevation of IgG index (1.6), three oligoclonal bands and myelin basic protein content of 2.4 ng/ml. There was no HTLV-I antibody in CSF. SSEP, elicited by median nerve stimulation at the right wrist, showed no N13 and low amplitude of N20. T2-weighted images of cervical MRI revealed area of high signal intensity at the C3-C4 level. The piano playing movement gradually improved and disappeared by the initiation of steroid hormone therapy. It was considered that involuntary movement in this patient was due to the spinal cord lesion caused by multiple sclerosis. These findings suggested that the involuntary movement like pseudoathetosis could present without deep sensory abnormalities. PMID:8370208

  20. Two Cases of Heerfordt's Syndrome: A Rare Manifestation of Sarcoidosis

    PubMed Central

    Furuta, Yasushi; Fukuda, Satoshi

    2016-01-01

    Heerfordt's syndrome is a rare manifestation of sarcoidosis characterized by the presence of facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever. Two cases of Heerfordt's syndrome and a literature review are presented. Case  1. A 53-year-old man presented with swelling of his right eyelid, right facial nerve palsy, and swelling of his right parotid gland. A biopsy specimen from the swollen eyelid indicated sarcoidosis and he was diagnosed with incomplete Heerfordt's syndrome based on the absence of uveitis. His symptoms were improved by corticosteroid therapy. Case  2. A 55-year-old woman presented with left facial nerve palsy, bilateral hearing loss, and swelling of her bilateral parotid glands. She had been previously diagnosed with uveitis and bilateral hilar lymphadenopathy. Although no histological confirmation was performed, she was diagnosed with complete Heerfordt's syndrome on the basis of her clinical symptoms. Swelling of the bilateral parotid glands and left facial nerve palsy were improved immediately by corticosteroid therapy. Sarcoidosis is a relatively uncommon disease for the otolaryngologist. However, the otolaryngologist may encounter Heerfordt's syndrome as this syndrome presents with facial nerve palsy and swelling of the parotid gland. Therefore, we otolaryngologists should diagnose and treat Heerfordt's syndrome appropriately in cooperation with pneumologists and ophthalmologists. PMID:26885424

  1. Temporomandibular Joint Hypermobility Manifestation Based on Clinical Observations

    PubMed Central

    Nosouhian, Saeid; Haghighat, Abbas; Mohammadi, Iman; Shadmehr, Elham; Davoudi, Amin; Badrian, Hamid

    2015-01-01

    Background: Joint range of motion might affected by some factors like laxity and increase joint mobility. Generalized joint hypermobility and temporomandibular joint hypermobility (TMJH) are reported as risk factors for temporomandibular disorders. The aim of this study was to survey the etiological factors of TMJH and its relations to habitual status. Materials and Methods: In this cross-sectional descriptive study, 69 patients with TMJH were involved. After profiling personal information and medical history, the patients were divided into three groups based on their maximum mouth opening (MMO) as follow: (Light) MMO of 50-55 mm, (moderate): MMO between 55 and 65 mm, (severe) MMO >65 mm. For subjective observations, patients were asked to fill the prepared questionnaire. The objective evaluations conducted by a specialist. Finally, all the data subjected Chi-Square test by using SPSS software version 22 at a significant level of 0.05. Results: TMJH was more common in women (74.2%). The light group had significant differences with other groups in the discomfort of TMJ and TMJ sound (P < 0.05). Furthermore, sever group manifested highest percentage of masticatory pains, significantly (P < 0.05). Conclusion: It can be concluded that pain in TMJ would have a correlation with MMO. PMID:26464530

  2. Two Cases of Heerfordt's Syndrome: A Rare Manifestation of Sarcoidosis.

    PubMed

    Fujiwara, Keishi; Furuta, Yasushi; Fukuda, Satoshi

    2016-01-01

    Heerfordt's syndrome is a rare manifestation of sarcoidosis characterized by the presence of facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever. Two cases of Heerfordt's syndrome and a literature review are presented. Case  1. A 53-year-old man presented with swelling of his right eyelid, right facial nerve palsy, and swelling of his right parotid gland. A biopsy specimen from the swollen eyelid indicated sarcoidosis and he was diagnosed with incomplete Heerfordt's syndrome based on the absence of uveitis. His symptoms were improved by corticosteroid therapy. Case  2. A 55-year-old woman presented with left facial nerve palsy, bilateral hearing loss, and swelling of her bilateral parotid glands. She had been previously diagnosed with uveitis and bilateral hilar lymphadenopathy. Although no histological confirmation was performed, she was diagnosed with complete Heerfordt's syndrome on the basis of her clinical symptoms. Swelling of the bilateral parotid glands and left facial nerve palsy were improved immediately by corticosteroid therapy. Sarcoidosis is a relatively uncommon disease for the otolaryngologist. However, the otolaryngologist may encounter Heerfordt's syndrome as this syndrome presents with facial nerve palsy and swelling of the parotid gland. Therefore, we otolaryngologists should diagnose and treat Heerfordt's syndrome appropriately in cooperation with pneumologists and ophthalmologists. PMID:26885424

  3. G6PD: population genetics and clinical manifestations.

    PubMed

    Beutler, E

    1996-03-01

    The glucose-6-phosphate dehydrogenase (G6PD) gene is X-linked. There are numerous mutations that cause a deficiency of this enzyme in erythrocytes. G6PD deficiency can produce anemia, both when drugs are administered and under the stress induced by infection. Functionally severe variants cause hereditary non-spherocytic hemolytic anemia, i.e. anemia even in the absence of stress. Neonatal jaundice occurs in G6PD deficiency, but it is likely that it is largely due to impairment of liver function, rather than to hemolysis. It has been suggested that there are clinical manifestations of G6PD deficiency that are related to other tissues, but the existence of these is not well documented. Some mutations that produce G6PD deficiency in red cells exist at polymorphic frequencies. Individuals with such mutations seem to have enjoyed a selective advantage because of resistance to falciparum malaria. Different mutations, each characteristic of certain populations, are found, and have been characterized at the deoxyribonucleic acid (DNA) level. G6PD A-(202A376G) is the most common African mutation. G6PD Mediterranean(563T) is found in Southern Europe, the Middle East and in the Indian subcontinent. Several other mutations are common in Asia. Genetic variability of G6PD has played an important role in the understanding of a variety of developmental processes. PMID:8861278

  4. Neurologic and Psychiatric Manifestations of Celiac Disease and Gluten Sensitivity

    PubMed Central

    Jackson, Jessica R.; Eaton, William W.; Cascella, Nicola G.; Fasano, Alessio

    2013-01-01

    Celiac Disease (CD) is an immune-mediated disease dependent on gluten (a protein present in wheat, rye or barley) that occurs in about 1% of the population and is generally characterized by gastrointestinal complaints. More recently the understanding and knowledge of gluten sensitivity (GS), has emerged as an illness distinct from celiac disease with an estimated prevalence 6 times that of CD. Gluten sensitive people do not have villous atrophy or antibodies that are present in celiac disease, but rather they can test positive for antibodies to gliadin. Both CD and GS may present with a variety of neurologic and psychiatric co-morbidities, however, extraintestinal symptoms may be the prime presentation in those with GS. However, gluten sensitivity remains undertreated and underrecognized as a contributing factor to psychiatric and neurologic manifestiations. This review focuses on neurologic and psychiatric manifestations implicated with gluten sensitivity, reviews the emergence of gluten sensitivity distinct from celiac disease, and summarizes the potential mechanisms related to this immune reaction. PMID:21877216

  5. Oral Manifestations of Human Immunodeficiency Virus-Infected Patients

    PubMed Central

    Pakfetrat, Atessa; Falaki, Farnaz; Delavarian, Zahra; Dalirsani, Zohreh; Sanatkhani, Majid; Zabihi Marani, Mahsa

    2015-01-01

    Introduction: Oral lesions are among the earliest clinical manifestations of human immunodeficiency (HIV) infection and are important in early diagnosis and for monitoring the progression to acquired immunodeficiency syndrome (AIDS). The purpose of this study was to determine the prevalence of oral lesions and their relationship with a number of factors in HIV/AIDS patients attending an HIV center. Materials and Methods: A total of 110 HIV-positive patients were examined to investigate the prevalence of oral lesions according to the criteria established by the European Community Clearing House on Oral Problems Related to HIV Infection. An independent T-test was used for correlation of oral lesions with CD4+ count and a ?2 test was used for analysis of the relationship of co-infection with hepatitis B virus (HBV), sexual contact, route of transmission, history of drug abuse, and history of incarceration. Results: Most of the cases were male patients (82.7%). The mean age across all participants was 36.28.1 years. Rampant carries, severe periodontitis and oral candidiasis were the most notable oral lesions. Oral lesions were more prevalent in patients between 2635 years of age. There was a significant difference between patients with and without pseudomembranous candidiasis and angular cheilitis according to mean level of CD4+. Conclusion: The most common oral presentations were severe periodontitis, pseudomembranous candidiasis and xerostomia. PMID:25745611

  6. Allergic Interstitial Nephritis Manifesting as a Striated Nephrogram

    PubMed Central

    Moinuddin, Irfan; Bracamonte, Erika; Thajudeen, Bijin; Sussman, Amy; Madhrira, Machaiah; Costello, James

    2015-01-01

    Allergic interstitial nephritis (AIN) is an underdiagnosed cause of acute kidney injury (AKI). Guidelines suggest that AIN should be suspected in a patient who presents with an elevated serum creatinine and a urinalysis that shows white cells, white cell casts, or eosinophiluria. Drug-induced AIN is suspected if AKI is temporally related to the initiation of a new drug. However, patients with bland sediment and normal urinalysis can also have AIN. Currently, a definitive diagnosis of AIN is made by renal biopsy which is invasive and fraught with risks such as bleeding, infection, and hematoma. Additionally, it is frequently unclear when a kidney biopsy should be undertaken. We describe a biopsy proven case of allergic interstitial nephritis which manifested on contrast enhanced Magnetic Resonance Imaging (MRI) as a striated nephrogram. Newer and more stable macrocyclic gadolinium contrast agents have a well-demonstrated safety profile. Additionally, in the presentation of AKI, gadolinium contrast agents are safe to administer in patients who demonstrate good urine output and a downtrending creatinine. We propose that the differential for a striated nephrogram may include AIN. In cases in which the suspicion for AIN is high, this diagnostic consideration may be further characterized by contrast enhanced MRI. PMID:26664405

  7. Diffuse large B-cell lymphoma manifesting as acute respiratory distress syndrome.

    PubMed

    Kishimoto, Mitsumasa; Prasertsuntarasai, Theerapol; Gelber, Rebecca; Tanabe, Anne; Gallacher, T Scott

    2004-12-01

    Diffuse large B-cell lymphoma initially appears with intrathoracic manifestations in up to 26% of patients. However, pulmonary involvement with hematologic malignancies rarely manifests clinically as acute respiratory distress syndrome (ARDS). We report a case of diffuse large B-cell lymphoma manifesting as ARDS in a 39-year-old Filipina woman. This case illustrates the importance of including lymphoma in the differential diagnosis of otherwise unexplained ARDS. Early recognition and prompt treatment may affect survival. PMID:15599333

  8. 19 CFR 122.73 - General declaration and air cargo manifest.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...; DEPARTMENT OF THE TREASURY AIR COMMERCE REGULATIONS Documents Required for Clearance and Permission To Depart; Electronic Manifest Requirements for Passengers, Crew Members, and Non-Crew Members Onboard...

  9. Clinical profile of cutaneous manifestations with and without hematologic disease: A comparative study

    PubMed Central

    Pande, Sushil Yashwant; Kharkar, Vidya

    2014-01-01

    Aim: The aim was to study the clinical profile of cutaneous manifestations of hematologic disorders and to compare it with that of non-hematologic disorders. Materials and Methods: Cutaneous manifestations of hematologic diseases fall in seven well-defined categories. A total of 153 outpatients with skin manifestations fitting in these categories were enrolled in a comparative study of 1-year duration. Clinical profile of these cutaneous manifestations was studied and any underlying hematologic disorder was ruled out with the help of a hematologist. Difference in the clinical profile of cutaneous manifestations with and without hematologic diseases was studied. Result: Of the 26,174 outpatients during the study period, 153 had cutaneous manifestations fitting in the categories of hematologic disorders. Of these 153 patients, 33 had hematologic disease as the cause of their cutaneous manifestation (21.57%), whereas 78.42% had no hematologic disorder. Disorders of hemostasis formed the largest group (36%) followed by cutaneous deposits/infiltrations (15%), vesiculobullous disorders (6%), and cutaneous vasculitis (9%) were least commonly associated with hematologic disorders. Conclusion: Hematologic diseases are associated with complex array of cutaneous manifestations. The incidence of hematologic diseaseassociated cutaneous manifestations was 0.13%. Findings of this study will help dermatologists and physicians with the early recognition of cutaneous signs of hematologic disorders. PMID:24860745

  10. Anemia as the Main Manifestation of Myelodysplastic Syndromes.

    PubMed

    Santini, Valeria

    2015-10-01

    Myelodysplastic syndromes (MDS) are a constellation of different diseases sharing anemia in the great majority of cases, and this cytopenia defines these pathologies and their most dramatic clinical manifestations. Anemia in MDS is due to ineffective erythropoiesis, with a high degree of apoptosis of marrow erythroid progenitors. These progenitors show distinctive dysplastic features that consent diagnosis, and are recognizable and differentiated, although not easily, from other morphologic alterations present in other types of anemia. Reaching the diagnosis of MDS in a macrocytic anemia and alleviating the symptoms of anemia are therefore an essential objective of the treating physician. In this work, the signs and symptoms of anemia in MDS, as well as its peculiar pathophysiology, are discussed. Erythopoietic stimulating agents (ESAs) are providing the best treatment for anemic MDS patients, but their use is still not approved by health agencies. While still waiting for this waiver, their clinical use is widespread and their effectivness is well known, as well as the dismal prognosis of patients who do not respond to ESAs and require transfusions. MDS with del5q constitute a unique model of anemia whose complex pathophysiology has been clarified at least partially, defining its link to ribosomal alterations likewise what observed in hereditary anemias like Blackfan Diamond anemia. Lenalidomide is the agent that has shown striking and specific erythropoietic activity in del5q MDS, and the basis of this response is starting to be understood. Several new agents are under evaluation for ESA refractory/relapsed MDS patients, targeting different putative mechanisms of ineffective erythropoiesis, and are here reviewed. PMID:26404446

  11. Clinical Manifestations and Treatment Outcomes of Eosinophilic Gastroenteritis in Children

    PubMed Central

    Choi, Jong Sub; Choi, Shin Jie; Lee, Kyung Jae; Kim, Ahlee; Yoo, Jung Kyung; Yang, Hye Ran; Moon, Jin Soo; Chang, Ju Young; Kang, Gyeong Hoon

    2015-01-01

    Purpose The aim of the present study was to investigate the clinical features and outcome of eosinophilic gastroenteritis (EGE) in children. Methods Our study enrolled 24 children who were diagnosed with EGE from 1993 to 2014 at the Department of Pediatrics, Seoul National University Children's Hospital. The patients' clinical manifestations, treatments, and outcomes were reviewed from the medical records. Results The mean age at diagnosis was 5.3 years. Most patients had gastrointestinal symptoms including diarrhea (54.2%) and abdominal pain (45.8%). Peripheral eosinophilia was present in 91.7% of the patients. Thirteen patients (54.2%) showed anemia, and 15 patients (62.5%) had hypoalbuminemia. EGE was classified as mucosal, subserosal, or muscular in 75.0%, 20.8%, and 4.2% of cases, respectively. Three patients showed gastroduodenal ulcers upon endoscopic analysis. A history of allergy was reported in 13 patients, including atopic dermatitis, allergic rhinitis, and asthma. Five patients (20.8%) improved with food restrictions. Among the 19 patients treated with steroids, 11 (57.9%) discontinued steroid treatment without subsequent relapse, 4 (21.1%) relapsed after ceasing steroid treatment, and 4 (21.1%) showed no response to steroids. Two patients who were resistant to steroids underwent therapeutic surgery. The presence of gastroduodenal ulcers was significantly associated with relapse and steroid resistance. Conclusion A high suspicion of EGE is warranted when children have nonspecific gastrointestinal symptoms and peripheral eosinophilia. Most patients improved with food restrictions or steroid treatment, although one-third of patients showed a relapse or steroid resistance. PMID:26770900

  12. Extra-articular manifestations in psoriatic arthritis patients.

    PubMed

    Peluso, Rosario; Iervolino, Salvatore; Vitiello, Maria; Bruner, Vincenzo; Lupoli, Gelsy; Di Minno, Matteo Nicola Dario

    2015-04-01

    Psoriatic arthritis (PsA) is an inflammatory rheumatic disorder, associated with skin and/or nail psoriasis. It has been included in the spondyloarthropathies (SpA) group, with which it shares clinical, radiologic, and serologic features and familial and genetic relationship. Inclusion of disease among SpA is also based on their striking points of similarity for extra-articular manifestations (EAMs). The aim of study was to describe the EAMs in patients with PsA, evaluating the prevalence and clinical features associated with established and early PsA. The study was a retrospective analysis of case records of 387 PsA patients. Data recorded were demographic data, disease properties, laboratory tests, drug use, and presence of EAMs. Of 387 PsA patients, 190 have shown EAMs: 33.16 % had bowel involvement, 32.63 % ocular, 28.42 % cardiovascular, 25.79 % urogenital, 8.42 % skin (excluding psoriasis), 1.05 % pulmonary, and 0.53 % renal. A higher prevalence of EAMs was found in axial subset (p?

  13. Fabry disease: recognition and management of cutaneous manifestations.

    PubMed

    Mhrenschlager, Matthias; Braun-Falco, Markus; Ring, Johannes; Abeck, Dietrich

    2003-01-01

    Fabry disease (angiokeratoma corporis diffusum universale) is a rare, X chromosome-linked lysosomal storage disease. The deficient enzyme, alpha-galactosidase A (alpha-gal A), is responsible for the accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, and brain. The disease manifests primarily in affected hemizygous men and to some extent in heterozygous women ('carriers'). The diagnosis of Fabry disease is made in hemizygous males after the detection of the presence of angiokeratomas, irregularities in sweating, edema, scant body hair, painful sensations, and of cardiovascular, gastrointestinal, renal, ophthalmologic, phlebologic, and respiratory involvement. A deficiency of alpha-gal A in serum, leukocytes, tears, tissue specimens, or cultured skin fibroblasts further supports the diagnosis in male patients. Since heterozygous women show angiokeratomas in only about 30% of cases and may have alpha-gal A levels within normal range, genetic analysis is recommended. Current treatment of angiokeratomas of Fabry disease is based mainly on the use of laser systems, including variable pulse width 532nm Neodymium:Yttrium-Aluminum-Garnet (Nd:YAG) laser, 578nm copper vapor laser, and flashlamp-pumped dye laser. When cutaneous and mucous glands are affected, restrictions may be required with regard to the time spent in a warm climate and the amount time spent working or on sporting activities, and may necessitate the use of topical and systemic antiperspirant agents, and topical application of artificial lacrimal fluid and saliva, respectively. For the future, new treatment modalities, including enzyme replacement therapy, substrate deprivation strategies, and gene therapy offer extraordinary options for the cutaneous and visceral lesions in patients with Fabry disease. PMID:12627994

  14. Behavioral manifestations of pain in the demented elderly.

    PubMed

    Cipher, Daisha J; Clifford, P Andrew; Roper, Kristi D

    2006-07-01

    In long-term care settings, behavioral disturbances are exhibited more often by those residents with some level of cognitive impairment. The extent to which pain influences dysfunctional behaviors, and the extent to which pain manifests itself as dysfunctional behaviors, has not been empirically studied. The purpose of our study was to investigate the relationship between pain and behavioral disturbances among long-term care residents suffering from varying levels of dementia. A cross-sectional study of 277 long-term care residents aged 60 and older was conducted to (1) determine the influence of pain on the number, intensity, frequency, and duration of dysfunctional behaviors; (2) investigate the differences between residents with varying levels of dementia who were suffering from acute pain in the intensity, frequency, and duration of 19 behavioral categories; and (3) investigate the differences between residents with varying levels of dementia who were suffering from chronic pain in the intensity, frequency, and duration of 19 behavioral categories. Results suggest that pain influenced behavioral disturbances among those with severe dementia more often than those with moderate or mild dementia, and residents with chronic pain who have severe dementia exhibit significantly more dysfunctional behaviors than those with earlier-stage dementia. These findings support the utility of comprehensive behavioral analysis involving clinical ratings of intensity, frequency, and duration of dysfunctional behaviors, with the assessment of the resident's level of dementia. Moreover, our results imply that pain and other forms of physical suffering must be adequately treated in order to reduce behavioral disturbances and improve quality of life. PMID:16843236

  15. Gastrointestinal and hepatic manifestations of systemic lupus erythematosus.

    PubMed

    Ebert, Ellen C; Hagspiel, Klaus D

    2011-01-01

    In this review of the gastrointestinal (GI) and hepatic manifestations of systemic lupus erythematosus (SLE), 180 articles from the English literature, found using a medline search from January 1965 to December 2010, were examined. Vasculitis may cause ulcerations, bleeding, stricture formation, and perforation from ischemia and infarction. Otherwise, GI symptoms, occurring in about 50% of patients, are usually mild. Esophageal dysmotility may result in heartburn, regurgitation, and dysphagia. Occasionally, pneumatosis cystoides intestinalis may develop, sometimes associated with benign pneumoperitoneum. Patients are prone to salmonella bacteremia, presenting more commonly with fever and abdominal pain than with diarrhea. Intestinal pseudoobstruction usually is found with active lupus serology, preferentially involving small rather than the large bowel. Protein-losing enteropathy, characterized by diarrhea, edema, and hypoalbuminemia, can be the initial presentation of SLE. Malabsorption with a prevalence of 9.5% is occasionally associated with celiac disease. Pancreatitis, with an annual incidence of 0.4 to 1/1000, has an overall mortality of 27% that is decreased with corticosteroid therapy. Acute and chronic ascites may be due to lupus peritonitis or to associated diseases, such as pancreatitis, nephrotic syndrome, heart failure, or infections. Abnormal liver function tests may be due to steatosis from lupus or from corticosteroid therapy. Only about 10% of patients with autoimmune hepatitis have lupus. Up to 4.7% of patients with SLE have chronic active hepatitis correlating strongly with the presence of antibody to ribosomal P protein. SLE can involve the entire GI tract and the liver. Treatment with corticosteroids, cytotoxic agents, and/or immunosuppressants is often successful. PMID:21422947

  16. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

    PubMed

    El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

    2015-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. PMID:26095523

  17. 14 CFR 125.405 - Disposition of load manifest, flight release, and flight plans.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 3 2010-01-01 2010-01-01 false Disposition of load manifest, flight release, and flight plans. 125.405 Section 125.405 Aeronautics and Space FEDERAL AVIATION ADMINISTRATION... AIRCRAFT Records and Reports § 125.405 Disposition of load manifest, flight release, and flight plans....

  18. Manifestations of Heterosexism in Icelandic Upper Secondary Schools and the Responses of LGBT Students

    ERIC Educational Resources Information Center

    Kjaran, Jón Ingvar; Jóhannesson, Ingólfur Ásgeir

    2013-01-01

    How does institutionalized heterosexism manifest itself in Icelandic upper secondary schools and how do lesbian, gay, bisexual, and transgender (LGBT) students respond to these manifestations? In addressing these questions, interviews were conducted with six current and former LGBT upper secondary school students, using queer theory and thematic…

  19. Right Bundle Branch Block: An Uncommon Cardiotoxic Manifestation of Hair Dye Poisoning-A Case Report

    PubMed Central

    Balasubramanian, Deepak; Subramanian, Saravanan; Thangaraju, Pugazhenthan; Shanmugam, Kani

    2014-01-01

    Hair dye poisoning has been rising in incidence in the recent years. Apart from the commoner manifestations of upper airway edema, rhabdomyolysis and acute renal failure, cardiac toxicity, convulsions and sudden cardiac death are relatively rare complications. We discuss a case of hair dye poisoning manifesting as oropharyngeal edema along with cardiac complication. The patient survived. PMID:24596762

  20. 19 CFR 162.65 - Penalties for failure to manifest narcotic drugs or marihuana.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 19 Customs Duties 2 2013-04-01 2013-04-01 false Penalties for failure to manifest narcotic drugs... Substances, Narcotics, and Marihuana § 162.65 Penalties for failure to manifest narcotic drugs or marihuana. (a) Cargo or baggage containing unmanifested narcotic drugs or marihuana. When a package of...