Saldaña, Miguel A; Hegde, Shivanand; Hughes, Grant L
Arthropods harbor a diverse array of microbes that profoundly influence many aspects of host biology, including vector competence. Additionally, symbionts can be engineered to produce molecules that inhibit pathogens. Due to their intimate association with the host, microbes have developed strategies that facilitate their transmission, either horizontally or vertically, to conspecifics. These attributes make microbes attractive agents for applied strategies to control arthropod-borne disease. Here we discuss the recent advances in microbial control approaches to reduce the burden of pathogens such as Zika, Dengue and Chikungunya viruses, and Trypanosome and Plasmodium parasites. We also highlight where further investigation is warranted. PMID:28177042
Miguel A Saldaña
Full Text Available Arthropods harbor a diverse array of microbes that profoundly influence many aspects of host biology, including vector competence. Additionally, symbionts can be engineered to produce molecules that inhibit pathogens. Due to their intimate association with the host, microbes have developed strategies that facilitate their transmission, either horizontally or vertically, to conspecifics. These attributes make microbes attractive agents for applied strategies to control arthropod-borne disease. Here we discuss the recent advances in microbial control approaches to reduce the burden of pathogens such as Zika, Dengue and Chikungunya viruses, and Trypanosome and Plasmodium parasites. We also highlight where further investigation is warranted.
Full Text Available Background: Personnel of military forces have close contact with natural habitat and usually encounter with bite of arthropods and prone to be infected with arthropod borne diseases. The imposed war against Iran was one of the most important and the longest war in the Middle East and even in the world and military people faced various diseases. The aim of this study was to review prevalence of arthropod borne diseases and to collect relevant information and valuable experiences during the imposed war.Methods: The present survey is a historical research and cross-sectional study, focused on arthropod fauna, situation of different arthropod borne diseases and also the ways which military personnel used to protect themselves against them. The information was adopted from valid military health files and also interviewing people who participated in the war.Results: Scabies, cutaneous leishmaniasis, sandfly fever and pediculosis were more prevalent among other arthropod -borne diseases in Iran-Iraq war. Measures to control arthropods and diseases at wartime mainly included: scheduled spraying of pesticides, leishmanization and treatment of patients.Conclusion: Although measures used during the war to control arthropods were proper, however, due to needs and importance of military forces to new equipment and technologies, it is recommended to use deltamethrin-impregnated bed net, permethrin treated military uniforms and various insect repellents in future.
F. J. López-Antuñano
Full Text Available Malaria and other arthropod born diseases remain a serious public health problem affecting the lives and health of certain social groups when the two basic strategies to control fail due to : (1 the lack of effective chemoprophylaxis/chemotherapy or the rapid development of drug resistance of the infectious agents and (2 the ineffectiveness of pesticides or the arthropod vectors develop resistance to them. These situations enhances the need for the design and implementation of other alternatives for sustainable health programmes. The application of the epidemiological methods is essential not only for analyzing the relevant data for the understanding of the biological characteristics of the infectious agents, their reservoirs and vectors and the methods for their control, but also for the assessment of the human behaviour, the environmental, social and economic factors involved in disease transmission and the capacity of the health systems to implement interventions for both changes in human behaviour and environmental management to purpose guaranteed prevention and control of malaria and other arthropod born diseases with efficiency, efficacy and equity. This paper discuss the evolution of the malaria arthropod diseases programmes in the American Region and the perspectives for their integration into health promotion programs and emphasis is made in the need to establish solid basis in the decision-making process for the selection of intervention strategies to remove the risk factors determining the probability to get sick or die from ABDs. The implications of the general planning and the polices to be adopted in an area should be analyzed in the light of programme feasibility at the local level, in the multisectoral context specific social groups and taking in consideration the principles of stratification and equity
Arthropod-borne diseases are a major problem whenever outdoor activities bring arthropods and people into contact. The arthropods discussed here include arachnids (ticks) and insects. Most arthropod bites and stings are minor, with the notable exception being bee-sting anaphylaxis. Ticks cause the most disease transmission. Key hard tick vectors include black-legged (Ixodes), dog (Dermacentor), and lone star (Amblyomma) ticks, which transmit Lyme and various rickettsial diseases. Insect repellents, permethrin sprays, and proper tick inspection reduce this risk significantly. Lyme disease and the milder southern-tick-associated rash illness (STARI) are characterized by the erythema migrans rash followed, in the case of Lyme disease, by early, disseminated, and late systemic symptoms. Treatment is with doxycycline or ceftriaxone. Indefinite treatment of "chronic Lyme disease" based on subjective symptoms is not beneficial. Rickettsial diseases include ehrlichiosis, anaplasmosis, and Rocky Mountain spotted fever, which are characterized by fever, headache, and possible rash and should be empirically treated with doxycycline while awaiting laboratory confirmation. Tularemia is a bacterial disease (Francisella) spread by ticks and rabbits and characterized by fever and adenopathy. Treatment is with gentamicin or streptomycin. Babesiosis is a protozoal disease, mimicking malaria, that causes a self-limited flu-like disease in healthy hosts but can be life threatening with immune compromise. Treatment is with atovaquone and azithromycin. Other tick-related conditions include viral diseases (Powassan, Colorado tick fever, heartland virus), tick-borne relapsing fever (Borrelia), and tick paralysis (toxin). Mosquitoes, lice, fleas, and mites are notable for their annoying bites but are increasingly significant disease vectors even in the United States.
Rahamat-Langendoen, J C; van Vliet, J A; Reusken, C B E M
Climate change is associated with changes in the occurrence of arthropod-borne diseases. It is difficult to foresee which arthropod-borne diseases will appear in the Netherlands due to climate change. Climate change influences the prevalence of ticks and may lead to a further increase in Lyme disease and an increased risk of the introduction of rickettsioses. With further warming of the climate there is a real possibility of settlement of the mosquito Aedes albopictus and introduction of the sandfly in the Netherlands. Whether this will lead to circulation of micro-organisms transmitted by these vectors (e.g. West Nile virus, Dengue virus, Leishmania) is not clear. Continued vigilance is necessary, even for vector-borne diseases that appear to be less relevant for the Netherlands.
J. Santiago Mejia
Full Text Available One approach to identify epitopes that could be used in the design of vaccines to control several arthropod-borne diseases simultaneously is to look for common structural features in the secretome of the pathogens that cause them. Using a novel bioinformatics technique, cysteine-abundance and distribution analysis, we found that many different proteins secreted by several arthropod-borne pathogens, including Plasmodium falciparum, Borrelia burgdorferi, and eight species of Proteobacteria, are devoid of cysteine residues. The identification of three cysteine-abundance and distribution patterns in several families of proteins secreted by pathogenic and nonpathogenic Proteobacteria, and not found when the amino acid analyzed was tryptophan, provides evidence of forces restricting the content of cysteine residues in microbial proteins during evolution. We discuss these findings in the context of protein structure and function, antigenicity and immunogenicity, and host-parasite relationships.
Beugnet, Frederic; Marié, Jean-Lou
Vector-borne diseases are caused by parasites, bacteria or viruses transmitted by the bite of hematophagous arthropods (mainly ticks and mosquitoes). The past few years have seen the emergence of new diseases, or re-emergence of existing ones, usually with changes in their epidemiology (i.e. geographical distribution, prevalence, and pathogenicity). The frequency of some vector-borne diseases of pets is increasing in Europe, i.e. canine babesiosis, granulocytic anaplasmosis, canine monocytic ehrlichiosis, thrombocytic anaplasmosis, and leishmaniosis. Except for the last, these diseases are transmitted by ticks. Both the distribution and abundance of the three main tick species, Rhipicephalus sanguineus, Dermacentor reticulatus and Ixodes ricinus are changing. The conditions for such changes involve primarily human factors, such as travel with pets, changes in human habitats, social and leisure activities, but climate changes also have a direct impact on arthropod vectors (abundance, geographical distribution, and vectorial capacity). Besides the most known diseases, attention should be kept on tick-borne encephalitis, which seems to be increasing in western Europe, as well as flea-borne diseases like the flea-transmitted rickettsiosis. Here, after consideration of the main reasons for changes in tick vector ecology, an overview of each "emerging" vector-borne diseases of pets is presented.
Mairuhu, A.T.; Wagenaar, J.; Brandjes, D.P.; Gorp, E. van
Dengue viruses cause a variable spectrum of disease that ranges from an undifferentiated fever to dengue fever to the potentially fatal dengue shock syndrome. Due to the increased incidence and geographical distribution of dengue in the last 50 years, dengue is becoming increasingly recognised as
Mairuhu, A.T.; Wagenaar, J.; Brandjes, D.P.; Gorp, E. van
Dengue viruses cause a variable spectrum of disease that ranges from an undifferentiated fever to dengue fever to the potentially fatal dengue shock syndrome. Due to the increased incidence and geographical distribution of dengue in the last 50 years, dengue is becoming increasingly recognised as on
Full Text Available In medical entomology, "Arthropod Borne Diseases", or "Vector Borne Diseases" (VBD are intended as a group of human and animal infections caused by different pathogen organisms (protozoa, helminthes, bacteria and viruses transmitted by the bite of a bloodsucking insect or arachnid. It is commonly known that the infectious diseases transmitted by Arthropods are mainly affecting tropical and subtropical countries, nevertheless some of them were or are still common also in the northern hemisphere, where they are usually maintained under control. VBD still represent some of the most important public health problems in the endemic areas but are becoming source of concern for developed countries too. Since the last decades of the past century, a number of VBD has been spreading geographically, being recorded for the first time in areas outside their original range. This phenomenon is strictly related to the peculiar epidemiological characteristics of these diseases, that are considered the most susceptible to climatic, environmental and socioeconomic changes. This article is a short overview of the VBD endemic and emerging in Italy. The possibility that some exotic vectors and/or pathogens could be introduced and become established in Italy is also discussed.
Hughes, G L; Rasgon, J L
The bacterial endosymbiont Wolbachia manipulates arthropod host biology in numerous ways, including sex ratio distortion and differential offspring survival. These bacteria infect a vast array of arthropods, some of which pose serious agricultural and human health threats. Wolbachia-mediated phenotypes such as cytoplasmic incompatibility and/or pathogen interference can be used for vector and disease control; however, many medically important vectors and important agricultural species are uninfected or are infected with strains of Wolbachia that do not elicit phenotypes desirable for disease or pest control. The ability to transfer strains of Wolbachia into new hosts (transinfection) can create novel Wolbachia-host associations. Transinfection has two primary benefits. First, Wolbachia-host interactions can be examined to tease apart the influence of the host and bacteria on phenotypes. Second, desirable phenotypes induced by Wolbachia in a particular insect can be transferred to another recipient host. This can allow the manipulation of insect populations that transmit pathogens or detrimentally affect agriculture. As such, transinfection is a valuable tool to explore Wolbachia biology and control arthropod-borne disease. The present review summarizes what is currently known about Wolbachia transinfection methods and applications. We also provide a comprehensive list of published successful and unsuccessful Wolbachia transinfection attempts.
Liu, R.; Bennett, S. N.; Thongsripong, P.; Chandler, J. S.
Mosquitoes have long been vectors for disease, and humans, birds, and other vertebrates have served their role as hosts in the transmission cycle of arthropod-borne viruses. In California, there are several mosquito species that act as vectors, transmitting such disease agents as Western equine and St. Louis encephalitis viruses, filarial nematodes, Plasmodium (which causes malaria), and West Nile virus (WNV). Last year (2012-2013), California had over 450 reported cases of West Nile Virus in humans (http://westnile.ca.gov/). To begin to understand mosquitoes and their role in the bay area as vectors of diseases, including West Nile Virus, we trapped mosquitoes from various sites and examined their microbiomes, including bacteria, fungi, viruses, and eukaryotes. Study sites were in Marin, San Mateo, and San Francisco counties, in areas that represented, respectively, rural, suburban, and urban habitats. The mosquitoes were identified through morphological characteristics, and verified molecularly by sequencing of the cytochrome oxidase I (COI) gene extracted from a leg. Most mosquitoes were collected from San Mateo and Mill Valley and were identified as Culiseta incidens. Data from traditional culture-based and next-generation 454 sequencing methods applied to mosquito whole bodies, representing their microbiomes, will be discussed, to determine how mosquito and microbial diversity varies across sites sampled in the San Francisco Bay area.
Day, Michael J
It is widely recognized that cats appear to be less frequently affected by arthropod-borne infectious diseases than dogs and share fewer zoonotic pathogens with man. This impression is supported by the relative lack of scientific publications related to feline vector-borne infections. This review explores the possible reasons for the difference between the two most common small companion animal species, including the hypothesis that cats might have a genetically-determined immunological resistance to arthropod vectors or the microparasites they transmit. A number of simple possibilities might account for the lower prevalence of these diseases in cats, including factors related to the lifestyle and behaviour of the cat, lesser spend on preventative healthcare for cats and reduced opportunities for research funding for these animals. The dog and cat have substantially similar immune system components, but differences in immune function might in part account for the markedly distinct prevalence and clinicopathological appearance of autoimmune, allergic, idiopathic inflammatory, immunodeficiency, neoplastic and infectious diseases in the two species. Cats have greater genetic diversity than dogs with much lower linkage disequilibrium in feline compared with canine breed groups. Immune function is intrinsically related to the nature of the intestinal microbiome and subtle differences between the canine and feline microbial populations might also impact on immune function and disease resistance. The reasons for the apparent lesser susceptibility of cats to arthropod-borne infectious diseases are likely to be complex, but warrant further investigation.
Martina, Byron E.; Barzon, Luisa; Pijlman, Gorben P.; Fuente, de la José; Rizzoli, Annapaola; Wammes, Linda J.; Takken, Willem; Rij, van Ronald P.; Papa, Anna
Human-to-human (H2H) transmitted arthropod-borne pathogens are a growing burden worldwide, with malaria and dengue being the most common mosquito-borne H2H transmitted diseases. The ability of vectors to get infected by humans during a blood meal to further propel an epidemic depends on complex i
Thongsripong, Panpim; Green, Amy; Kittayapong, Pattamaporn; Kapan, Durrell; Wilcox, Bruce; Bennett, Shannon
Recent years have seen the greatest ecological disturbances of our times, with global human expansion, species and habitat loss, climate change, and the emergence of new and previously-known infectious diseases. Biodiversity loss affects infectious disease risk by disrupting normal relationships between hosts and pathogens. Mosquito-borne pathogens respond to changing dynamics on multiple transmission levels and appear to increase in disturbed systems, yet current knowledge of mosquito diversity and the relative abundance of vectors as a function of habitat change is limited. We characterize mosquito communities across habitats with differing levels of anthropogenic ecological disturbance in central Thailand. During the 2008 rainy season, adult mosquito collections from 24 sites, representing 6 habitat types ranging from forest to urban, yielded 62,126 intact female mosquitoes (83,325 total mosquitoes) that were assigned to 109 taxa. Female mosquito abundance was highest in rice fields and lowest in forests. Diversity indices and rarefied species richness estimates indicate the mosquito fauna was more diverse in rural and less diverse in rice field habitats, while extrapolated estimates of true richness (Chao1 and ACE) indicated higher diversity in the forest and fragmented forest habitats and lower diversity in the urban. Culex sp. (Vishnui subgroup) was the most common taxon found overall and the most frequent in fragmented forest, rice field, rural, and suburban habitats. The distributions of species of medical importance differed significantly across habitat types and were always lowest in the intact, forest habitat. The relative abundance of key vector species, Aedes aegypti and Culex quinquefasciatus, was negatively correlated with diversity, suggesting that direct species interactions and/or habitat-mediated factors differentially affecting invasive disease vectors may be important mechanisms linking biodiversity loss to human health. Our results are an
Dryden, M S; Saeed, K; Ogborn, S; Swales, P
This series of serologically confirmed Lyme disease is the largest reported in the UK and represents 508 patients who presented to one hospital in the South of England between 1992 and 2012. The mean rate of borreliosis throughout this period was 9·8/100,000 population, much higher than the reported national rate of 1·7/100,000. The actual rate increased each year until 2009 when it levelled off. Patients clinically presented with rash (71%), neurological symptoms (16%, of whom half had VII cranial nerve palsies), arthropathy (8%), pyrexia (5%), cardiac abnormalities (1%) or other manifestations (chronic Lyme disease. These patients have a different disease from Lyme disease and therefore an alternative name, chronic arthropod-borne neuropathy (CAN), and case definition for this condition is proposed. We suggest that this chronic condition needs to be distinguished from Lyme disease, as calling the chronic illness 'Lyme disease' causes confusion to patients and physicians. We recommend research initiatives to investigate the aetiology, diagnosis and therapy of CAN.
Full Text Available Pet animal movement is ever increasing within the European Union and in that context canine vectorborne infections gained a considerable importance. Information on these infections in travelled dogs is nevertheless limited. A first prospective study on vector-borne infections was conducted in 106 dogs travelling from Germany to countries in South and South-East Europe. The dogs were screened prior to and consecutively up to three times after travel by haematological (Giemsa-stained buffy coat smears, Knott’s-Test, molecular biological (PCR as well as serological (IFAT, DiroChek®-ELISA methods for arthropod-borne infections. Seven animals were seropositive for antibodies against Babesia canis sspp., Leishmania spp. and/or Ehrlichia canis prior to travel to Italy, Spain, France, Croatia, Greece, or Hungary. In the consecutive screening after return there was no increase in the number of seropositive dogs. None was positive in direct methods. The mean duration of the stay was 17 days and 51% of the dogs were prophylactically treated with ectoparasiticidal formulations. Preliminary data from this study on canine vector-borne infections indicate a low risk for infection during a limited single stay in endemic countries.
particularly for conditions that are not completely rehabilitated and may be exacerbated by anticipated stresses of deployment. Th e sharp increase in...secondary. §Urethritis, non-gonococcal (NGU). Cold Heat Reporting location Arthropod-borne Sexually transmitted Environmental Lyme disease Malaria...Primary and secondary. §Urethritis, non-gonococcal (NGU). Cold Heat Reporting location Arthropod-borne Sexually transmitted Environmental Lyme disease
Geoghegan, Jemma L.; Walker, Peter J.; Duchemin, Jean-Bernard; Jeanne, Isabelle; Holmes, Edward C.
Arthropod-borne viruses are a major cause of emerging disease with significant public health and economic impacts. However, the factors that determine their activity and seasonality are not well understood. In Australia, a network of sentinel cattle herds is used to monitor the distribution of several such viruses and to define virus-free regions. Herein, we utilize these serological data to describe the seasonality, and its drivers, of three economically important animal arboviruses: bluetongue virus, Akabane virus and bovine ephemeral fever virus. Through epidemiological time-series analyses of sero-surveillance data of 180 sentinel herds between 2004–2012, we compared seasonal parameters across latitudes, ranging from the tropical north (−10°S) to the more temperate south (−40°S). This analysis revealed marked differences in seasonality between distinct geographic regions and climates: seasonality was most pronounced in southern regions and gradually decreased as latitude decreased toward the Equator. Further, we show that both the timing of epidemics and the average number of seroconversions have a strong geographical component, which likely reflect patterns of vector abundance through co-varying climatic factors, especially temperature and rainfall. Notably, despite their differences in biology, including insect vector species, all three viruses exhibited very similar seasonality. By revealing the factors that shape spatial and temporal distributions, our study provides a more complete understanding of arbovirus seasonality that will enable better risk predictions. PMID:25412443
Jemma L Geoghegan
Full Text Available Arthropod-borne viruses are a major cause of emerging disease with significant public health and economic impacts. However, the factors that determine their activity and seasonality are not well understood. In Australia, a network of sentinel cattle herds is used to monitor the distribution of several such viruses and to define virus-free regions. Herein, we utilize these serological data to describe the seasonality, and its drivers, of three economically important animal arboviruses: bluetongue virus, Akabane virus and bovine ephemeral fever virus. Through epidemiological time-series analyses of sero-surveillance data of 180 sentinel herds between 2004-2012, we compared seasonal parameters across latitudes, ranging from the tropical north (-10°S to the more temperate south (-40°S. This analysis revealed marked differences in seasonality between distinct geographic regions and climates: seasonality was most pronounced in southern regions and gradually decreased as latitude decreased toward the Equator. Further, we show that both the timing of epidemics and the average number of seroconversions have a strong geographical component, which likely reflect patterns of vector abundance through co-varying climatic factors, especially temperature and rainfall. Notably, despite their differences in biology, including insect vector species, all three viruses exhibited very similar seasonality. By revealing the factors that shape spatial and temporal distributions, our study provides a more complete understanding of arbovirus seasonality that will enable better risk predictions.
Diosa-Toro, Mayra; Urcuqui-Inchima, Silvio; Smit, Jolanda M
Flaviviruses are the most prevalent arthropod-borne viruses worldwide, and nearly half of the 70 Flavivirus members identified are human pathogens. Despite the huge clinical impact of flaviviruses, there is no specific human antiviral therapy available to treat infection with any of the
Diosa-Toro, Mayra; Urcuqui-Inchima, Silvio; Smit, Jolanda M
Flaviviruses are the most prevalent arthropod-borne viruses worldwide, and nearly half of the 70 Flavivirus members identified are human pathogens. Despite the huge clinical impact of flaviviruses, there is no specific human antiviral therapy available to treat infection with any of the flaviviruses
WORK, T H
More than 150 arthropod-borne viruses are now recognized, and over 50 of these are known to produce human infections and disease. Among these viruses are those of the tick-borne Russian spring-summer complex, which is etiologically involved in a wide variety of human diseases of varying severity. The eight antigenically different members of this complex so far known are Russian spring-summer encephalitis, louping-ill, Central European encephalitis, Omsk haemorrhagic fever, Kyasanur Forest disease, Langat, Negishi and Powassan viruses.In his review of the problems posed by these viruses and of research on them, the author points out that, while this complex is distributed around the globe in the temperate zone of the northern hemisphere, the only serious tick-borne virus disease known in the tropics is Kyasanur Forest disease. It is probable, however, that there are other, unrecognized tick-borne viruses in the tropical areas of Asia, Africa and America of importance to human health, and that these will be brought to light as virological studies of diseases of now obscure etiology are pursued.
Lyme disease (LD) is the most prevalent arthropod-borne infection in the United States, with 33,097 cases of LD reported to the Centers for Disease Control and Prevention (CDC) in 2011. The disease is transmitted to a mammalian host by Ixodes ticks infected with Borrelia burgdorferi. Efforts to unde...
Analyte Specific Reagents (ASRs )for the Diagnosis of Selected Arthropod-Borne Viruses on FDA-Cleared Real - time PCR Platforms PRINCIPAL...of Analyte Specific Reagents (ASRs) for the Diagnosis of Selected Arthropod-Borne Viruses on FDA-Cleared Real - time PCR Platforms 5c. PROGRAM ELEMENT
particularly if courses of treatment and/or rehabilitation are interrupted. Several studies have documented strong relationships between service...Urethritis, non-gonococcal (NGU). Reporting location Arthropod-borne Sexually transmitted Environmental Lyme disease Malaria Chlamydia Gonorrhea Syphilis...transmitted Environmental Lyme disease Malaria Chlamydia Gonorrhea Syphilis‡ Urethritis§ Cold Heat 2008 2009 2008 2009 2008 2009 2008 2009 2008 2009 2008
Melanson, Vanessa R; Scheirer, Jessica L; Van de Wyngaerde, Marshall T; Bourzac, Kevin; Wu, Shuenn-Jue; Kochel, Tadeusz; McAvin, James C
Researchers at the Walter Reed Army Institute of Research have taken a joint service approach to filling an identified diagnostic capability gap by leveraging a vector surveillance assay. Specifically, the Army took a field-stable real-time polymerase chain reaction assay, developed by the Air Force, for dengue virus surveillance in arthropod vectors and collaborated with Navy researchers for utility in human diagnostics. As current Department of Defense diagnostic PCR assays employ the Joint Biological Agent Identification and Diagnostic System, the dengue assay was tested for use on this platform. The low rates of false negative and false positive dengue samples in clinical matrices demonstrate excellent utility as a human diagnostic assay. Overall, converting an arboviral vector surveillance assay to human diagnostic assay and potentially vice versa is both cost effective and labor reducing. Codevelopment with harmonization of vector surveillance and diagnostics offers monetary and resource advantages to the Department of Defense and should be considered as a path forward in times when downsizing threatens assay development and pathogen discovery. Reprint & Copyright © 2014 Association of Military Surgeons of the U.S.
André, Marcos Rogério; Baccarim Denardi, Nathani Cristina; Marques de Sousa, Keyla Carstens; Gonçalves, Luiz Ricardo; Henrique, Paloma Canedo; Grosse Rossi Ontivero, Claudia Regina; Lima Gonzalez, Irys Hany; Cabral Nery, Carolina Vaz; Fernandes Chagas, Carolina Romeiro; Monticelli, Cauê; Alexandre de Santis, Ana Cláudia Gabriela; Machado, Rosangela Zacarias
Recently, tick and flea-borne pathogens have been detected in wild carnivores maintained in captivity in Brazilian zoos. Since free-roaming cats are frequently found in Brazilian zoos, they could act as reservoirs for arthropod-borne pathogens, which could be transmitted to endangered wild carnivores maintained in captivity in these institutions. On the other hand, stray cats in zoos may play a role as sentinels to pathogens that circulate among wild animals in captivity. The present work aimed to detect the presence of Anaplasmataceae agents, hemoplasmas, Bartonella species, piroplasmas, and Hepatozoon sp. DNA in blood samples of 37 free-roaming cats in a Brazilian zoo. Three (8%) cats were positive for Anaplasma spp. closed related to Anaplasma phagocytophilum; 12 (32%) cats were positive for hemoplasmas [two (5%) for Mycoplasma haemofelis, five (13.5%) for Candidatus Mycoplasma haemominutum, and five (13.5%) for Candidatus Mycoplasma turicensis]; 11 (30%) were positive for Bartonella spp., six (16%) were positive Babesia vogeli and one (3%) for Theileria sp. Coinfection with multiple arthropod-borne agentes was observed in sampled cats. None of sampled cats were positive for Ehrlichia spp., Cytauxzoon spp., or Hepatozoon spp. in PCR. This is the first molecular detection of Babesia vogeli and Theileria sp. in domestic cats in Brazil. The control of the population of free-roaming cats in these conservation institutions is much needed aiming to prevent the potential transmission to endangered wild animals maintained in captivity, such as wild neotropical wild felids, as well as to human beings visiting zoos.
Althouse, Benjamin M; Hanley, Kathryn A
Arthropod-borne viruses (arboviruses) are maintained in a cycle of alternating transmission between vertebrate hosts and arthropod vectors. Arboviruses possess RNA genomes capable of rapid diversification and adaptation, and the between-host trade-offs inherent to host alternation impose well-documented constraints on arbovirus evolution. Here, we investigate the less well-studied within-host trade-offs that shape arbovirus replication dynamics and transmission. Arboviruses generally establish lifelong infection in vectors but transient infection of variable magnitude (i.e. peak virus concentration) and duration in vertebrate hosts. In the majority of experimental infections of vertebrate hosts, both the magnitude and duration of arbovirus replication depended upon the dose of virus administered, with increasing dose resulting in greater magnitude but shorter duration of viraemia. This pattern suggests that the vertebrate immune response imposes a trade-off between the height and breadth of the virus replication curve. To investigate the impact of this trade-off on transmission, we used a simple modelling approach to contrast the effect of 'tortoise' (low magnitude, long duration viraemia) and 'hare' (high magnitude, short duration viraemia) arbovirus replication strategies on transmission. This model revealed that, counter to previous theory, arboviruses that adopt a tortoise strategy have higher rates of persistence in both host and vector populations.
Kenney, Joan L; Brault, Aaron C
Arthropod-borne viruses (arboviruses) are transmitted between vertebrate hosts and arthropod vectors. An inherently complex interaction among virus, vector, and the environment determines successful transmission of the virus. Once believed to be "flying syringes," recent advances in the field have demonstrated that mosquito genetics, microbiota, salivary components, and mosquito innate immune responses all play important roles in modulating arbovirus transmissibility. The literature on the interaction among virus, mosquito, and environment has expanded dramatically in the preceding decade and the utilization of next-generation sequencing and transgenic vector methodologies assuredly will increase the pace of knowledge acquisition in this field. This chapter outlines the interplay among the three factors in both direct physical and biochemical manners as well as indirectly through superinfection barriers and altered induction of innate immune responses in mosquito vectors. The culmination of the aforementioned interactions and the arms race between the mosquito innate immune response and the capacity of arboviruses to antagonize such a response ultimately results in the subjugation of mosquito cells for viral replication and subsequent transmission.
Ahmed, J.; Bouloy, M.; Ergonul, O.; Fooks, A.R.; Paweska, J.; Chevalier, V.; Drosten, C.; Moormann, R.J.M.; Tordo, N.; Vatansever, Z.; Calistri, P.; Estrada-Pena, A.; Mirazimi, A.; Unger, H.; Yin, H.; Seitzer, U.
Arboviruses are arthropod-borne viruses, which include West Nile fever virus (WNFV), a mosquito-borne virus, Rift Valley fever virus (RVFV), a mosquito-borne virus, and Crimean-Congo haemorrhagic fever virus (CCHFV), a tick-borne virus. These arthropod-borne viruses can cause disease in different do
Ahmed, J.; Bouloy, M.; Ergonul, O.; Fooks, A.R.; Paweska, J.; Chevalier, V.; Drosten, C.; Moormann, R.J.M.; Tordo, N.; Vatansever, Z.; Calistri, P.; Estrada-Pena, A.; Mirazimi, A.; Unger, H.; Yin, H.; Seitzer, U.
Arboviruses are arthropod-borne viruses, which include West Nile fever virus (WNFV), a mosquito-borne virus, Rift Valley fever virus (RVFV), a mosquito-borne virus, and Crimean-Congo haemorrhagic fever virus (CCHFV), a tick-borne virus. These arthropod-borne viruses can cause disease in different do
Vahid Najarnezhad; Mahin Rajae
Objective: To estimate the prevalence and distribution of bluetongue virus antibody in sheep and goats in 25 townships of Khorasan Razavi. Bluetongue is an infectious, non-contagious, arthropod born viral disease of ruminants and has been reported from most of the tropical and subtropical regions of the world. Methods: A total number of 1 034 serum samples from sheep and goats were collected and transmitted to Serological Laboratory of Veterinary Council of Khorasan Razavi. Serums were scr...
Hornok, Sándor; Estók, Péter; Kováts, Dávid; Flaisz, Barbara; Takács, Nóra; Szőke, Krisztina; Krawczyk, Aleksandra; Kontschán, Jenő; Gyuranecz, Miklós; Fedák, András; Farkas, Róbert; Haarsma, Anne-Jifke; Sprong, Hein
Bats are among the most eco-epidemiologically important mammals, owing to their presence in human settlements and animal keeping facilities. Roosting of bats in buildings may bring pathogens of veterinary-medical importance into the environment of domestic animals and humans. In this context bats have long been studied as carriers of various pathogen groups. However, despite their close association with arthropods (both in their food and as their ectoparasites), only a few molecular surveys have been published on their role as carriers of vector-borne protozoa. The aim of the present study was to compensate for this scarcity of information. Altogether 221 (mostly individual) bat faecal samples were collected in Hungary and the Netherlands. The DNA was extracted, and analysed with PCR and sequencing for the presence of arthropod-borne apicomplexan protozoa. Babesia canis canis (with 99-100% homology) was identified in five samples, all from Hungary. Because it was excluded with an Ixodidae-specific PCR that the relevant bats consumed ticks, these sequences derive either from insect carriers of Ba. canis, or from the infection of bats. In one bat faecal sample from the Netherlands a sequence having the highest (99%) homology to Besnoitia besnoiti was amplified. These findings suggest that some aspects of the epidemiology of canine babesiosis are underestimated or unknown, i.e. the potential role of insect-borne mechanical transmission and/or the susceptibility of bats to Ba. canis. In addition, bats need to be added to future studies in the quest for the final host of Be. besnoiti.
Maria Paula Gomes Mourão
Full Text Available Dengue fever is the world's most important viral hemorrhagic fever disease, the most geographically wide-spread of the arthropod-born viruses, and it causes a wide clinical spectrum of disease. We report a case of dengue hemorrhagic fever complicated by acute hepatitis. The initial picture of classical dengue fever was followed by painful liver enlargement, vomiting, hematemesis, epistaxis and diarrhea. Severe liver injury was detected by laboratory investigation, according to a syndromic surveillance protocol, expressed in a self-limiting pattern and the patient had a complete recovery. The serological tests for hepatitis and yellow fever viruses were negative. MAC-ELISA for dengue was positive.
Maria Paula Gomes Mourão
Full Text Available Dengue fever is the world's most important viral hemorrhagic fever disease, the most geographically wide-spread of the arthropod-born viruses, and it causes a wide clinical spectrum of disease. We report a case of dengue hemorrhagic fever complicated by acute hepatitis. The initial picture of classical dengue fever was followed by painful liver enlargement, vomiting, hematemesis, epistaxis and diarrhea. Severe liver injury was detected by laboratory investigation, according to a syndromic surveillance protocol, expressed in a self-limiting pattern and the patient had a complete recovery. The serological tests for hepatitis and yellow fever viruses were negative. MAC-ELISA for dengue was positive.
Ahmed, J.; Bouloy, M.; Ergonul, O.; Fooks, A. R.; Paweska, J.; Chevalier, V.; Drosten, C.; Moormann, R. J. M.; Tordo, N.; Vatansever, Z.; Calistri, P.; Estrada-Pena, A.; Mirazimi, A; Unger, H; Yin, H.
Arboviruses are arthropod-borne viruses, which include West Nile fever virus (WNFV), a mosquito-borne virus, Rift Valley fever virus (RVFV), a mosquito-borne virus, and Crimean-Congo haemorrhagic fever virus (CCHFV), a tick-borne virus. These arthropod-borne viruses can cause disease in different domestic and wild animals and in humans, posing a threat to public health because of their epidemic and zoonotic potential. In recent decades, the geographical distribution of these diseases has expa...
Silva-Nunes Mônica da
Full Text Available The authors describe the baseline malaria prevalence and arbovirus seroprevalence among 467 subjects in an ongoing cohort study in rural Amazonia. Most subjects (72.2% reported one or more previous episodes of malaria, and 15.6% had been hospitalized for malaria, but only 3.6% of individuals five years or older had malaria parasites detected by microscopy (10 with Plasmodium vivax and 4 with P. falciparum. Antibodies to Alphavirus, Orthobunyavirus, and/or Flavivirus were detected by hemagglutination inhibition (HI in 42.6% of subjects aged five years or older, with a higher seropositivity rate among males (49.2% than females (36.2%. Since 98.9% of subjects had been immunized for yellow fever, the presence of cross-reactive antibodies to dengue and other Flaviviruses cannot be ruled out, but at least 12 subjects (3.3% with IgM antibodies to dengue virus detected by ELISA had a putative recent exposure to this virus.
Silva-Nunes, Mônica da; Malafronte, Rosely dos Santos; Luz, Bruna de Almeida; Souza, Estéfano Alves de; Martins, Lívia Carício; Rodrigues, Sueli Guerreiro; Chiang, Jannifer Oliveira; Vasconcelos, Pedro Fernando da Costa; Muniz, Pascoal Torres; Ferreira, Marcelo Urbano
The authors describe the baseline malaria prevalence and arbovirus seroprevalence among 467 subjects in an ongoing cohort study in rural Amazonia. Most subjects (72.2%) reported one or more previous episodes of malaria, and 15.6% had been hospitalized for malaria, but only 3.6% of individuals five years or older had malaria parasites detected by microscopy (10 with Plasmodium vivax and 4 with P. falciparum). Antibodies to Alphavirus, Orthobunyavirus, and/or Flavivirus were detected by hemagglutination inhibition (HI) in 42.6% of subjects aged five years or older, with a higher seropositivity rate among males (49.2%) than females (36.2%). Since 98.9% of subjects had been immunized for yellow fever, the presence of cross-reactive antibodies to dengue and other Flaviviruses cannot be ruled out, but at least 12 subjects (3.3%) with IgM antibodies to dengue virus detected by ELISA had a putative recent exposure to this virus.
Ahmed, J; Bouloy, M; Ergonul, O; Fooks, Ar; Paweska, J; Chevalier, V; Drosten, C; Moormann, R; Tordo, N; Vatansever, Z; Calistri, P; Estrada-Pena, A; Mirazimi, A; Unger, H; Yin, H; Seitzer, U
Arboviruses are arthropod-borne viruses, which include West Nile fever virus (WNFV), a mosquito-borne virus, Rift Valley fever virus (RVFV), a mosquito-borne virus, and Crimean-Congo haemorrhagic fever virus (CCHFV), a tick-borne virus. These arthropod-borne viruses can cause disease in different domestic and wild animals and in humans, posing a threat to public health because of their epidemic and zoonotic potential. In recent decades, the geographical distribution of these diseases has expanded. Outbreaks of WNF have already occurred in Europe, especially in the Mediterranean basin. Moreover, CCHF is endemic in many European countries and serious outbreaks have occurred, particularly in the Balkans, Turkey and Southern Federal Districts of Russia. In 2000, RVF was reported for the first time outside the African continent, with cases being confirmed in Saudi Arabia and Yemen. This spread was probably caused by ruminant trade and highlights that there is a threat of expansion of the virus into other parts of Asia and Europe. In the light of global warming and globalisation of trade and travel, public interest in emerging zoonotic diseases has increased. This is especially evident regarding the geographical spread of vector-borne diseases. A multi-disciplinary approach is now imperative, and groups need to collaborate in an integrated manner that includes vector control, vaccination programmes, improved therapy strategies, diagnostic tools and surveillance, public awareness, capacity building and improvement of infrastructure in endemic regions.
The entomologists at the Arthropod-Borne Animal Diseases Research Unit at USDA-Agricultural Research Service are tasked with protecting the nation’s livestock from domestic, foreign and emerging vector-borne diseases. To accomplish this task, a vast array of molecular techniques are being used in pr...
C. Marchal; F. Schramm; A. Kern; B.J. Luft; X. Yang; T.J. Schuijt; T. Schuijt; J.W. Hovius; J. Hovius; B. Jaulhac; N. Boulanger
Tick saliva has potent immunomodulatory properties. In arthropod-borne diseases, this effect is largely used by microorganisms to increase their pathogenicity and to evade host immune responses. We show that in Lyme borreliosis, tick salivary gland extract and a tick saliva protein, Salp15, inhibit
袁方玉; 黄光全; 张华勋; 裴速建; 刘井元; 胡乐群; 陈建设
虫媒传播的人畜共患病毒（Arthropod—borne virus）传染病是指能在敏感的节肢动物，包括蚊、蜱、白蛉、蠓等吸血昆虫体内繁殖但不致病，而通过吸血昆虫叮咬将病毒传播给人畜，引起人畜疾病流行的一组病毒性传染病，虫媒病毒在自然界的传播是靠媒介昆虫来维持，属于自然疫源性疾病（Disease of natural focus）。
concentrations of nitrous acid other mutagenizing agents were investigated. All four dengue serotypes were mutagenized with 5-azocytedine but testing...94SO) while await- ing chemical characterization. Two temperature sensitive mutants have been obtained from 275 plaques tested. All dengue serotypes have...studies. These investigations were discontinued. During the early 1960’s the list of group B arbo- viruses was rapidly increasing and a number of dengue
Full Text Available Introduction Celiac disease (nontropical sprue, gluten-sensitive enteropathy, chronic intestinal malabsorption disorder is caused by gluten intolerance. This hereditary disorder is caused by sensitivity to gliadin. Because the body's own immune system causes the damage, celiac disease is considered to be an autoimmune disorder. However, it is also classified as a disease of malabsorption because nutrients are not absorbed. When people with celiac disease eat foods containing gluten, their immune system responds by damaging the small intestine. Specifically, tiny finger-like protrusions, called villi, on the lining of the small intestine are lost. The diagnosis is suspected on the basis of symptoms and signs, enhanced by laboratory and x-ray studies, and confirmed by biopsy revealing flat mucosa and subsequent clinical and histologic improvement on a gluten-free diet. Gluten must be excluded from diet. Supplementary vitamins, minerals and hematinics may be given depending on deficiency. Case report This is a case report of a 23-year old female patient with a mineralization defect (osteomalacia and secondary osteoporosis caused by long-time unrecognized celiac disease. The patient had many symptoms: short stature, steatorrhea, anemia, weight loss and chronic bone pain. Laboratory and x-ray studies and jejunal biopsy revealed a chronic intestinal malabsorption disorder caused by gluten intolerance. Gluten-free diet and supplementary vitamins, minerals and hematinics were included with apparent clinical remission. Discussion and Conclusion Some people with celiac disease may not have symptoms. The undamaged part of their small intestine is able to absorb enough nutrients to prevent symptoms. However, people without symptoms are still at risk for complications of celiac disease. Biopsy of the small intestine is the best way to diagnose celiac disease. Decreased bone density (osteoporosis and osteomalacia is a serious problem for celiacs. If calcium
safety, and force health protection programs. In addition, service members receive “free” preventive, curative, and rehabilitation medical services...location Arthropod-borne Sexually transmitted Environmental Lyme disease Malaria Chlamydia Gonorrhea Syphilis ‡ Urethritis§ Cold Heat 2008 2009 2008...borne Sexually transmitted Environmental Lyme disease Malaria Chlamydia Gonorrhea Syphilis ‡ Urethritis§ Cold Heat 2008 2009 2008 2009 2008 2009 2008
Márcia Aparecida Sperança
Full Text Available Arthropod-borne diseases caused by a variety of microorganisms such as dengue virus and malaria parasites afflict billions of people worldwide imposing major economic and social burdens. Despite many efforts, vaccines against diseases transmitted by mosquitoes, with the exception of yellow fever, are not available. Control of such infectious pathogens is mainly performed by vector management and treatment of affected individuals with drugs. However, the numbers of insecticide-resistant insects and drug-resistant parasites are increasing. Therefore, inspired in recent years by a lot of new data produced by genomics and post-genomics research, several scientific groups have been working on different strategies to control infectious arthropod-borne diseases. This review focuses on recent advances and perspectives towards construction of transgenic mosquitoes refractory to malaria parasites and dengue virus transmission.
Sperança, Márcia Aparecida; Capurro, Margareth Lara
Arthropod-borne diseases caused by a variety of microorganisms such as dengue virus and malaria parasites afflict billions of people worldwide imposing major economic and social burdens. Despite many efforts, vaccines against diseases transmitted by mosquitoes, with the exception of yellow fever, are not available. Control of such infectious pathogens is mainly performed by vector management and treatment of affected individuals with drugs. However, the numbers of insecticide-resistant insects and drug-resistant parasites are increasing. Therefore, inspired in recent years by a lot of new data produced by genomics and post-genomics research, several scientific groups have been working on different strategies to control infectious arthropod-borne diseases. This review focuses on recent advances and perspectives towards construction of transgenic mosquitoes refractory to malaria parasites and dengue virus transmission.
US Fish and Wildlife Service, Department of the Interior — A Waterfowl Disease Conference was held in Denver the fall of 1980 to develop a better program for dealing with waterfowl disease problems. Most of the report dealt...
Brozik, Susan M; Manginell, Ronald P; Moorman, Matthew W; Xiao, Xiaoyin; Edwards, Thayne L.; Anderson, John Moses; Pfeifer, Kent Bryant; Branch, Darren W.; Wheeler, David Roger; Polsky, Ronen; Lopez, DeAnna M.; Ebel, Gregory D.; Prasad, Abhishek N.; Brozik, James A.; Rudolph, Angela R.; Wong, Lillian P.
Bioweapons and emerging infectious diseases pose growing threats to our national security. Both natural disease outbreak and outbreaks due to a bioterrorist attack are a challenge to detect, taking days after the outbreak to identify since most outbreaks are only recognized through reportable diseases by health departments and reports of unusual diseases by clinicians. In recent decades, arthropod-borne viruses (arboviruses) have emerged as some of the most significant threats to human health. They emerge, often unexpectedly, from cryptic transmission foci causing localized outbreaks that can rapidly spread to multiple continents due to increased human travel and trade. Currently, diagnosis of acute infections requires amplification of viral nucleic acids, which can be costly, highly specific, technically challenging and time consuming. No diagnostic devices suitable for use at the bedside or in an outbreak setting currently exist. The original goals of this project were to 1) develop two highly sensitive and specific diagnostic assays for detecting RNA from a wide range of arboviruses; one based on an electrochemical approach and the other a fluorescent based assay and 2) develop prototype microfluidic diagnostic platforms for preclinical and field testing that utilize the assays developed in goal 1. We generated and characterized suitable primers for West Nile Virus RNA detection. Both optical and electrochemical transduction technologies were developed for DNA-RNA hybridization detection and were implemented in microfluidic diagnostic sensing platforms that were developed in this project.
Choksi, Vaishali; Hoeffner, Ellen; Karaarslan, Ercan; Yalcinkaya, Cengiz; Cakirer, Sinan
Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because of further progression of the disease. The initial diagnosis in both patients was made on basis of history, clinical findings, and biochemical studies.
Dogan, Ayse Dudu Altintas; Bunes, Kristin; Skarphédinsson, Sigurdur
Chikungunya fever is an acute febrile illness associated with severe, often debilitating polyarthralgias. The disease is caused by the Chikungunya virus (CHIKV), an arthropod-borne virus that is transmitted to humans primarily via the bite of an infected mosquito. Since a re-emergence of CHIKV in 2004 in the Indian Ocean islands, the virus has spread into novel locations such as Europe. In Italy, an outbreak occurred in 2007. A mutation in CHIKV (E1-A226V) appears to improve virus survival in Ae. albopictus and also increase its virulence. Further attention should be given the disease since it is emerging in Europe.
Boverhoff, J C; Baart, J A
Three consecutive patients with an acute swelling of one of the cheeks, were diagnosed with epidemic parotiditis. The first phase of the diagnostic procedure for an acute cheek swelling is to eliminate the possibility of odontogenic causes. When odontogenic problems have been excluded, non-dentition-related causes may be considered. An acute, progressive swelling in the preauricular area can often be attributed to an inflammation of the parotid gland, but epidemic parotiditis should also be considered. Epidemic parotiditis, or mumps, is caused by the mumps virus. Contamination occurs aerogenically. In the Netherlands, mumps vaccine is an ingredient of the governmental combined mump-measles-rubella inoculation programme. However, in recent years several small-scale parotiditis epidemics have broken out, predominantly among young, inoculated adults. Oropharyngeal mucus and blood samples are needed to diagnose the disease. Each case of the disease should be reported to the community healthcare service.
Vahid Najarnezhad; Mahin Rajae
To estimate the prevalence and distribution of bluetongue virus antibody in sheep and goats in 25 townships of Khorasan Razavi. Bluetongue is an infectious, non-contagious, arthropod born viral disease of ruminants and has been reported from most of the tropical and subtropical regions of the world. Methods: A total number of 1 034 serum samples from sheep and goats were collected and transmitted to Serological Laboratory of Veterinary Council of Khorasan Razavi. Serums were screened for the presence of group-specific bluetongue virus antibody using competitive Enzyme Linked Immuno Sorbent Assay (c-ELISA). Results: The seropositivity of sheep and goats for bluetongue was found to be 89.2%. The highest prevalence rate was seen in Taybad, Khalil-abad and Torbat-jam (100%) and the least prevalence rate was seen in Jovein (55%). Conclusions: The results showed that the majority of animals in the north-east of Iran are infected with bluetongue virus. High correlation between abortion history and seroposivity emphasize the economical importance of bluetongue virus in the sheep herds of the region.
U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2017. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...
U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2016. In this Table, provisional* cases of selectedâ infrequently reported notifiable diseases...
U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2014.In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...
U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2015. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...
MOTULSKY Arno G.
Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.
National Inst. on Aging (DHHS/PHS), Bethesda, MD.
This report summarizes advances in the understanding of Alzheimer's disease, the major cause of mental disability among older Americans. The demography of the disease is discussed, noting that approximately 2.5 million American adults are afflicted with the disease and that the large increase in the number of Alzheimer's disease patients is due to…
US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.
US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.
US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.
Full Text Available Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA. There are three types of Pompe disease: classical infantile form, non-classical infantile form and late-onset Pompe disease. Age of onset and severity of the disease determine the type of Pompe disease. We aimed to identify a mutation in GAA gene in parents who were first cousins and their baby girl was passed away due to the Pompe disease. The baby girl had reduced acid alpha-glucosidase activity, but genetic analysis had not been performed. Mutation analysis of parents was performed using high-throughput DNA sequencing method. Heterozygous mutation of c.896 T>C in exon 5 was found in parents, and prenatal diagnosis was performed for their next pregnancy. In conclusion, c.896 T>C substitution in GAA gene may lead to the severe type of Pompe disease. Using a relatively fast and reliable molecular genetic analysis method to confirm the early diagnosis of the Pompe disease is important for the management of the disease.
Karwowska, Kornelia; Skrzypek, Julita; Chabik, Grzegorz; Członkowska, Anna; Zaborowska, Marzena; Wawrzyniak, Sławomir
Wilson's disease (WD) or hepatolenticular degeneration, is a rare autosomal recessive genetic disorder caused by mutations in the Wilson disease protein (ATP7B) gene. It is characterized by impaired copper metabolism leading to its accumulation in various tissues and organs, including the liver and central nervous system, this results in the development of characteristic liver disease and neuropsychiatric symptoms. Liver symptoms usually appear during first three decades of life, while psychiatric symptoms are observed in people who are in their twenties or older. WD is one of few genetic diseases that can be effectively treated with pharmacotherapy. However, some cases, especially diagnosed late in the course of the disease, may not respond well to treatment. Here we present a case of a 22-year-old male with neurological, psychiatric and liver disease symptoms as an example of diagnostic and therapeutic challenges in patients. Wilson's disease (WD) should be considered in all patients presenting with neurological, psychiatric and liver disease symptoms especially those of young age.
Freund, E.; Seligman, P.J. (National Institute for Occupational Safety and Health, Cincinnati, OH (USA)); Chorba, T.L.; Safford, S.K.; Drachman, J.G. (Centers for Disease Control, Atlanta, GA (USA)); Hull, H.R. (New Mexico Health and Environment Department, Santa Fe (USA))
Occupational disease surveillance is a critical step in the prevention of work-related injury and illness. Case reporting by health care providers to public health authorities is one way of identifying sources of exposure toward which control measures can be directed. Most health care providers are familiar with the existence of reporting requirements for infectious diseases; however, less attention has been paid by the medical community to recognizing and reporting occupationally related conditions. The Department of labor estimated that in 1978 approximately 1.9 million people were severely or partially disabled from occupationally related diseases, at an annual cost of $11.4 billion in lost wages alone.
Pastula, Daniel M; Smith, Daniel E; Beckham, J David; Tyler, Kenneth L
Arthropod-borne viruses, or arboviruses, are viruses that are transmitted through the bites of mosquitoes, ticks, or sandflies. There are numerous arboviruses throughout the world capable of causing human disease spanning different viral families and genera. Recently, Jamestown Canyon, Powassan, chikungunya, and Zika viruses have emerged as increasingly important arboviruses that can cause human disease in North America. Unfortunately, there are currently no proven disease-modifying therapies for these arboviral diseases, so treatment is largely supportive. Given there are also no commercially available vaccines for these four arboviral infections, prevention is the key. To prevent mosquito or tick bites that might result in one of these arboviral diseases, people should wear long-sleeved shirts and pants while outside if feasible, apply insect repellant when going outdoors, using window screens or air conditioning to keep mosquitoes outside, and perform tick checks after being in wooded or brushy outdoor areas.
Full Text Available Prion diseases are a group of fatal neurodegenerative diseases caused by the trans - formation of an endogenous protein, PrP (prion - related protein, into an abnormal conformation, the most common of which in humans is Creutzfeldt - Jakob disease. We report t he case of a 40 year old lady who presented with rapidly progressive dementia with pyramidal, extra - pyramidal, cerebellar symptoms, myoclonus and akinetic mutism. Her EEG showed typical periodic sharp wave complexes and MRI Brain revealed DWI>FLAIR intensi ty in bilateral caudate nuclei, putamen & bilateral subcortical frontal lobes . The clinico - radiological correlation was consistent with the diagnosis of Creutzfeldt - Jakob disease.
Full Text Available (Received 15 Jun, 2008 ; Accepted 4 Mar, 2009AbstractKimura is a rare disease that its etiology is not defined exactly. Immunologic and allergic responses are the probable cause of disease. Kimura is most often reported mostly in Asian men. Kimura is presented by subcutaneous nodule or multiple nodules in head and neck region. This Disease is benign. The kimura disease is rare and until 1994 about 120 were reported. In our literature research one documented case was reported in Iran. Treatment of disease include surgery, corticosteroid and cyclosporine. The presented case was a 36 years old man with right parotid gland and submentum lymph nodes enlargement. Excision of mass was done and kimura was documented by pathological examination. Recurrence of disease was happened and treatment was done by cyclosporine, prednisolon and cetirizine.kimura is a very rare disease that may be mistaken with malignancy. Therapy includes surgical excision and medical treatment. Correct diagnosis of disease can prevent radical surgery. J Mazand Univ Med Sci 2009; 19(68:84-88 (Persian
Ojeda Lewis, Eduardo; Vásquez Paz, Héctor
The Kikuchi-Fujimoto disease is a rare disease that occurs mostly in young adults, although some cases have been reported in children. It is usually characterized by fever and cervical lymphadenopathy. The etiology of the disease remains unknown. Its course is usually benign and self-limited. It has special histopathological features that allow the differential diagnosis with other entities, which from a clinical point of view can be very complicated. We report a 9 years 11 months old girl with lymphadenopathy and fever with five months evolution, which is the longest evolution among the cases reviewed by the authors in world literature. Given that the presentation of this disease in children is very rare, we estimate that the knowledge of this disease is relevant and pediatricians must consider it in the differential diagnosis of fever of unknown origin in children.
Ömer Faruk Elmas
Full Text Available Darier's disease is an inherited dermatosis of hair follicles characterized by hyperkeratotic papules. The trunk and scalp are usually affected. Comedonal Darier's disease is a rare subtype of Darier's disease. Comedonal lesions are seen beside the typical signs. Our case was a 59-yearold woman presented with hyperkeratotic papules and comedonal lesions on her bilateral axillary area and trunk, and below the breasts. Focal parakeratosis, acantholytic dyskeratotic cells in these focuses, basophilic nuclear dusts, clefts, edema and perivascular nonspecific mononuclear cells infiltrations in dermis were found in histopathological investigations. We decided to report this case because comedonal Darier is a rare form of Darier's disease and there are only few reported cases in the literature.
Maffia, Silvia A; Peruffo, María V; Malvaso, Roque; Senor, Varinea; Pollono, Daniel; Altamirano, Eugenia M
Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare dis order of unknown etiology, generally associated with enlargement of superficial and/or deep lymph nodes. Most patients do not require treatment. We report the case of a 10 month old infant who was admitted with a left cervical tumor of 25 days duration.
Alexandre de Andrade Sousa
Full Text Available CONTEXT: Kikuchi-Fujimoto disease (KFD manifests in most cases as unilateral cervical lymphadenomegaly, with or without accompanying fever. The disease mainly affects young women and has a self-limited course. It is more common in oriental countries, with few reports of its occurrence in Brazil. KFD should be included in the differential diagnosis of suspected cases of viral infections, tuberculosis, reactive lymphadenitis, systemic lupus erythematosus and metastatic diseases. It can be histologically confused with lymphoma. The disease is benign and self-limiting and an excisional biopsy of an affected lymph node is necessary for diagnosis. There is no specific therapy. CASE REPORTS: This study reports on three cases of non-Asian female patients with KFD who were attended at our service between 2003 and 2006. A review of the literature was carried out, with a systematic search on this topic, with the aim of informing physicians about this entity that is manifested by cervical masses and fever.
Pacheco, Oscar; Beltrán, Mauricio; Nelson, Christina A; Valencia, Diana; Tolosa, Natalia; Farr, Sherry L; Padilla, Ana V; Tong, Van T; Cuevas, Esther L; Espinosa-Bode, Andrés; Pardo, Lissethe; Rico, Angélica; Reefhuis, Jennita; González, Maritza; Mercado, Marcela; Chaparro, Pablo; Martínez Duran, Mancel; Rao, Carol Y; Muñoz, María M; Powers, Ann M; Cuéllar, Claudia; Helfand, Rita; Huguett, Claudia; Jamieson, Denise J; Honein, Margaret A; Ospina Martínez, Martha L
Background Colombia began official surveillance for Zika virus disease (ZVD) in August 2015. In October 2015, an outbreak of ZVD was declared after laboratory-confirmed disease was identified in nine patients. Methods Using the national population-based surveillance system, we assessed patients with clinical symptoms of ZVD from August 9, 2015, to April 2, 2016. Laboratory test results and pregnancy outcomes were evaluated for a subgroup of pregnant women. Concurrently, we investigated reports of microcephaly for evidence of congenital ZVD. Results By April 2, 2016, there were 65,726 cases of ZVD reported in Colombia, of which 2485 (4%) were confirmed by means of reverse-transcriptase-polymerase-chain-reaction (RT-PCR) assay. The overall reported incidence of ZVD among female patients was twice that in male patients. A total of 11,944 pregnant women with ZVD were reported in Colombia, with 1484 (12%) of these cases confirmed on RT-PCR assay. In a subgroup of 1850 pregnant women, more than 90% of women who were reportedly infected during the third trimester had given birth, and no infants with apparent abnormalities, including microcephaly, have been identified. A majority of the women who contracted ZVD in the first or second trimester were still pregnant at the time of this report. Among the cases of microcephaly investigated from January 2016 through April 2016, four patients had laboratory evidence of congenital ZVD; all were born to asymptomatic mothers who were not included in the ZVD surveillance system. Conclusions Preliminary surveillance data in Colombia suggest that maternal infection with the Zika virus during the third trimester of pregnancy is not linked to structural abnormalities in the fetus. However, the monitoring of the effect of ZVD on pregnant women in Colombia is ongoing. (Funded by Colombian Instituto Nacional de Salud and the Centers for Disease Control and Prevention.).
Jaqueline Luvisotto Marinho
Full Text Available CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed.
Full Text Available Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is characterized by progressive cerebral degeneration with psychomotor deterioration, hypothermia, seizures and characteristic facial appearance with hair abnormalities.Case Presentation: We report on two cases of classical Menkes disease with typical history, (progressive psychomotor deterioration and seizures}, clinical manifestations (cherubic appearance, with brittle, scattered and hypopigmented scalp hairs, and progression. Light microscopic examination of the hair demonstrated the pili torti pattern. The low serum copper content and ceruloplasmin confirmed the diagnosis.Conclusion: Menkes disease is an under-diagnosed entity, being familiar with its manifestation and maintaining high index of suspicion are necessary for early diagnosis.
Full Text Available Leigh disease is a progressive degenerative, mitochondrial disorder of childhood with most cases become apparent during infancy. In most cases it presents as a progressive neurological disease with motor and intellectual developmental delay, developmental regression and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuro imaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 3years old male child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh’s disease.
Dalva Marli Valério Wanderley
Full Text Available Report of a case of acute transfusional Chagas'disease in a four-year-old child with a previous diagnosis of acute lymphocytic leukemia, transmitted in São Paulo, the Capital of São Paulo State, Brazil. Epidemiological investigation disclosed the donor's serological positivity and his previous residence in an area where Chagas' disease is endemic. The importance of adequate sorological screening in blood donors is evident. It should be stressed that this is the first case notified to the Superintendência de Controle de Endemias (SUCEN (Superintendency for the Endemy Control of the State Secretariat of Health, São Paulo, for the last five years.
Full Text Available Abstract Background Globally, arthropod-borne virus infections are increasingly common causes of severe febrile disease that can progress to long-term physical or cognitive impairment or result in early death. Because of the large populations at risk, it has been suggested that these outcomes represent a substantial health deficit not captured by current global disease burden assessments. Methods We reviewed newly available data on disease incidence and outcomes to critically evaluate the disease burden (as measured by disability-adjusted life years, or DALYs caused by yellow fever virus (YFV, Japanese encephalitis virus (JEV, chikungunya virus (CHIKV, and Rift Valley fever virus (RVFV. We searched available literature and official reports on these viruses combined with the terms "outbreak(s," "complication(s," "disability," "quality of life," "DALY," and "QALY," focusing on reports since 2000. We screened 210 published studies, with 38 selected for inclusion. Data on average incidence, duration, age at onset, mortality, and severity of acute and chronic outcomes were used to create DALY estimates for 2005, using the approach of the current Global Burden of Disease framework. Results Given the limitations of available data, nondiscounted, unweighted DALYs attributable to YFV, JEV, CHIKV, and RVFV were estimated to fall between 300,000 and 5,000,000 for 2005. YFV was the most prevalent infection of the four viruses evaluated, although a higher proportion of the world's population lives in countries at risk for CHIKV and JEV. Early mortality and long-term, related chronic conditions provided the largest DALY components for each disease. The better known, short-term viral febrile syndromes caused by these viruses contributed relatively lower proportions of the overall DALY scores. Conclusions Limitations in health systems in endemic areas undoubtedly lead to underestimation of arbovirus incidence and related complications. However, improving
Carmenza Janneth Benavides Melo
Full Text Available Degenerative valvular disease or endocardiosis is the most common cardiovascular pathology in dogs. It is characterized by regurgitation of blood into the atria with decreased cardiac output, leading to volume overload with eccentric hypertrophy and congestive heart failure. This report describes the clinical and autopsy findings of a dog, suggestive of valvular endocardiosis. The patient was admitted to the outpatient Veterinary Clinic “Carlos Martínez Hoyos” at the University of Nariño (Pasto, Colombia. His owner said the dog was sick for two months, with signs of respiratory disease, weight loss, and decay. Clinical examination showed very pale mucous membranes, inspiratory dyspnea, rale, split S2, grade 4 mid-systolic murmur of regurgitation, and abdominal dilatation with sign of positive shock wave. Necropsy evidenced plenty of translucent watery material in the abdominal, chest and pericardium cavity, severely enlarged and rounded heart with thickened atrioventricular valves, moderate reduction in liver size and signs of lobulation, severely diminished and pale kidneys with irregular surface showing the presence of multiple cystic areas in corticomedullary region. Samples were taken from these tissues and fixed in 10% buffered formalin to be processed for histopathological analysis at the Laboratory of Pathology at the University of Nariño, using hematoxylin and eosin stain. This way, degenerative valvular disease was diagnosed.
Lugo-Zamudio, Gustavo Esteban; Barbosa-Cobos, Rosa Elda; González-Ramírez, Laura Virginia; Delgado-Ochoa, Dolores
Deaths due to tuberculosis have reached 2.5 million cases per year worldwide. Poncet's disease is an infrequent form of tuberculosis characterised by a clinical picture of polyarthritis. A 24-year-old male presented with morning stiffness, arthralgias, bilateral symmetric arthritis of the proximal interphalangeal joints, wrists, knees, ankles, and shoulders, and adenomegalies at the cervical, submandibular, left supraclavicular, axillary and inguinal levels, without fever. Laboratory results were as follows: ESR 44mm/h, C-reactive protein 4.35, normal levels of complement C3 and C4, negative rheumatoid factor and anticyclic citrullinated peptide antibodies, positive antinuclear antibodies with fine speckled pattern (1:320) and cytoplasm (1:160) pattern and negative anti-Smith, -double-stranded DNA, Sjogren's syndrome-antigen A and Sjogren's syndrome-antigen B. Histological report of cervical node tissue revealed granulomatous lesions compatible with tuberculosis. Rheumatoid arthritis and systemic lupus erythematosus were ruled out. Anti-tuberculosis agents were initiated that resolved the clinical picture. Diagnosis of Poncet's disease was confirmed. The differential diagnosis between tuberculosis and autoimmune inflammatory joint diseases is a clinical challenge. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.
Vanya, Melinda; Fejes, Imre; Jako, Maria; Tula, Areta; Terhes, Gabriella; Janaky, Marta; Bartfai, Gyorgy
We describe a rare case of Lyme disease complicated by unilateral neuroretinitis in the right eye. We report a case of a 27-year-old woman with blurred vision on her right eye. Because of the suspicion of optic neuritis (multiplex sclerosis) neurological examination was ordered. Surprisingly, computer tomography of the brain revealed incomplete empty sella, which generally results not monocular, but bilateral optic nerve swelling. Opthalmological examination (ophthalmoscopy and optical coherence tomography) indicated not only monocular optic nerve, but retinal oedema next to the temporal part of the right optic disk. Visual evoked potentials (VEP) demonstrated no P100 latency delay and mild differences between the amplitudes of the responses of the left and right eye. Optical coherence tomography (OCT) demonstrated the swelling of the optic nerve head and oedematous retina at the temporal part of the disk. Suspicion of an inflammatory cause of visual disturbance blood tests was ordered. Doxycycline treatment was ordered till the result of the blood test arrived. The Western blot and ELISA test were positive for Borrelia burgdorferi sensu lato. Following one week corticosteroide and ceftriaxone treatments, the patient displayed a clinical improvement. Unilateral neuroretinitis with optic disk swelling due to neuroborreliosis is a rare complication and in many cases it is difficult to distinguish between inflammatory and ischemic lesions. Further difficulty in the diagnosis can occur when intracranial alterations such as empty sella is demonstrated by CT examination.
H.S.J. Picavet (Susan); J.M.W. Hazes (Mieke)
textabstractOBJECTIVES: To present the prevalence of self reported musculoskeletal diseases, the coexistence of these diseases, the test-retest reliability with six months in between, and the association with musculoskeletal pain symptoms. METHODS: Twelve layman descriptions of com
Full Text Available Hailey-Hailey disease is a benign familial chronic vesicobullous disease with unique histopathology. Four cases of this rare genodermatosis are reported here. All of them had the history of exacerbation in hot and humid weather.
Lyme disease (Lyme borreliosis) is a systemic infectious disease that can present in a variety of clinical manifestations. The disease is caused by a group of spirochaetes--Borrelia burgdorferi sensu lato or Lyme borrelia--that are transmitted to humans by the bite of Ixodes ticks. Lyme disease is the most common arthropode-borne infectious disease in many European countries including Germany. Early localized infection is typically manifested by an erythema migrans skin lesion, in rarer cases as a borrelial lymphocytoma. The most common early disseminated manifestation is (early) neuroborreliosis. In adults, neuroborreliosis appears typically as meningoradiculoneuritis. Neuroborreliosis in children, however, is typically manifested by meningitis. In addition, multiple erythema migrans lesions and Lyme carditis occur relatively frequently. The most common manifestation oflate Lyme disease is Lyme arthritis. Early manifestations (and usually also late manifestations) of Lyme disease can be treated successfully by application of suitable antibacterial agents. For the treatment of Lyme disease, doxycycline, certain penicillins such as amoxicillin and some cephalosporins (ceftriaxone, cefotaxime, cefuroxime axetil) are recommended in current guidelines. A major challenge is the treatment of chronic, non-specific disorders, i. e., posttreatment Lyme disease syndrome and "chronic Lyme disease". Prevention of Lyme disease is mainly accomplished by protecting against tick bites. Prophylactic administration of doxycycline after tick bites is generally not recommended in Germany. There is no vaccine available for human beings.
Fahr’s disease is characterized with presence of calcifications in basal ganglions, dentate nucleus, and centrum semiovale. Common clinical findings of the disease are Parkinsonism, dystonia, chorea, ataxia, dementia, and mood disorders. We present a patient, in whom a diagnosis of Fahr disease established, with clinical and radiological findings. Neurological and physical exam of the 56 year-old female with complaints of memory loss and speech disorder for one year. Brain CT showed Fahr type...
Dovigi, Allan J
Morgellons disease is a new emerging disease that is still controversial and believed to be, by some practitioners, as nothing more than delusional parasitosis. The Center for Disease Control has recently launched an epidemiological investigation into this disease due to the increased number of reports. A first case is reported of an oral lesion and symptoms consistent with Morgellons disease. The nature of the characteristic fibers associated with the intraoral lesion is investigated. Research has started at a number of institutions to elucidate the nature of this emerging disease.
Heerkens, Yvonne; Kuyk-Minis, Marie Antoinette van; Cup, Edith; Engels, Josephine; Engelen, Baziel van; Oostendorp, Rob
To explore consultation reports for patient and employment characteristics and recommendations on employment regarding patients with neuromuscular diseases (NMDs). Eighty percent of the included consultation reports contained information on employment. Less than half the patients with NMD were emplo
Minis, M.A.H; Cup, E.H.C.; Heerkens, Y.F.; Engels, J.A.; Engelen, B.G. van; Oostendorp, R.A.B.
Minis MA, Cup EH, Heerkens YF, Engels JA, van Engelen BG, Oostendorp RA. Exploring employment in consultation reports of patients with neuromuscular diseases. OBJECTIVES: To explore consultation reports for patient and employment characteristics and recommendations on employment regarding patients
Cosimo, Caterina; Franco, Ciro
Addisonian crises, a rare but life-threatening event in pregnant women, may accompany stressful conditions such as labor, puerperium, infection, hyperemesis gravidarum or surgery. A 36-year-old woman, primigravida, with Addison's disease, diagnosed when she was 10 year-old and treated with cortisone and fludrocortisone. The therapy was regulated to avoid adrenal crisis during pregnancy. The woman underwent to caesarean section at 38th week and gave birth to a normal baby. The successful management of pregnant women with Addison's disease, regarding her state and that of the foetus, reassures those women that nowadays Addison's disease and pregnancy are not incompatible when proper monitoring and management is provided.
Zhang, Zhuo-li; Wang, Yu; Zhou, Wei; Hao, Yan-jie
Addison's disease is an autoimmune process. However, Addison's disease associated with connective tissue diseases (CTD) is only occasionally reported. Here, we report six cases of Addison's disease secondary to a variety of CTD, which include systemic lupus erythematosus, Takayasu arteritis, systemic sclerosis, ankylosing spondylitis (AS) and antiphospholipid antibody syndrome. The association of Addison's disease with Takayasu arteritis and AS is reported for the first time. We also found high prevalence of hypothyroidism as concomitant autoimmune disorder. Our case series highlight the autoimmune features of Addison's disease. Therefore, we suggest considering adrenal dysfunction in patients with CTD.
Full Text Available Fahr’s disease is characterized with presence of calcifications in basal ganglions, dentate nucleus, and centrum semiovale. Common clinical findings of the disease are Parkinsonism, dystonia, chorea, ataxia, dementia, and mood disorders. We present a patient, in whom a diagnosis of Fahr disease established, with clinical and radiological findings. Neurological and physical exam of the 56 year-old female with complaints of memory loss and speech disorder for one year. Brain CT showed Fahr type calcification in the basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum. Fahr’s disease must be present in differential diagnosis of patients with calcification in basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum on CT or MRI that could not be explained otherwise.
Ullah, Sana; Ajab, Shereen; Rao, Rajashekhar; Raghunathan, Girish; DaCosta, Philip
Diaphragm disease of small intestine usually presents with nonspecific clinical features. Radiological investigations often fail to differentiate it from small intestinal tumors and inflammatory bowel disease. It is therefore diagnosed on final histology after surgical resection. We hereby report an interesting case of a suspected small bowel tumor later diagnosed as diaphragm disease on histology.
Euser, Sjoerd M; Diederen, Bram M W; Bakker, Meta; Honing, Marina L H; Bruin, Jacob P; Brandsema, Petra S; Reijnen, Linda; Den Boer, Jeroen W
This case report describes a case of Legionnaires' disease for whom the source of infection was the campervan in which the patient had travelled for 3 months. This case shows that Legionnaires' disease can be acquired by exposure to a relatively new (not previously reported) source that is commonly used as (holiday)transportation vehicle.
Chaudhuri, Sayani; Rao, Karthik N; Patil, Navin; Ommurugan, Balaji; Varghese, George
Over past two decades there has been significant improvement in medical field in elucidating the underlying pathophysiology and genetics of Addison's disease. Adrenal insufficiency (Addison's disease) is a rare disease with an incidence of 0.8/100,000 cases. The diagnosis may be delayed if the clinical presentation mimics a gastrointestinal disorder or psychiatric illness. We report a case of Addison's disease presenting as acute pain in abdomen mimicking clinical presentation of acute pancreatitis.
Grosskopf, Courtney; Desai, Bhavik; Stoopler, Eric T
Morgellons disease is a psycho-dermatologic condition in which patients report fibers or filaments "growing" out of their skin. This case report highlights an oral ulceration in a young woman associated with Morgellons disease, a condition that has not been previously described in the dental literature. An increasing number of individuals are self-reporting this condition and oral health care providers must be familiar with this disorder. Copyright © 2011 Mosby, Inc. All rights reserved.
Full Text Available Creutzfeldt-Jacob Disease is a prion disease which has a wide range of clinical presentations. Its diagnosis is not simple and clinical manifestation along with EEG, MR imaging findings and cerebrospinal fluid (CSF analysis should be considered for a definite diagnosis. A-50-year-old woman referred with cognitive impairment, myoclonic jerks, mutism and difficulty in swallowing to our clinic. EEG (Electroencephalography results showed bilaterally periodic sharp and slow-wave discharges. Protein 14-3-3 in CSF was detected. Magnetic resonance imaging (MRI findings revealed hyperintensity of the caudate and putamen in diffusion-weighted imaging (DWI, T2 Weighted (T2W sequences and Fluid-attenuated inversion-recovery (FLAIR images. Patients who have progressive dementia should be evaluated by means of MR imaging and CSF analysis for CJD specific proteins should be considered.
Lien, C H; Yang, W; Tsai, Y C; Huang, P H
Kikuchi's disease (histiocytic necrotizing lymphadenitis) is a self-limited disease of unknown cause. The disease often presents with persistently intermittent fever and enlarged cervical lymph nodes. It usually occurs in adult group and is unresponsive to antibiotic therapy. The diagnosis can be confirmed by histopathological findings of lymph node in open biopsy. We report a pediatric case of Kikuchi's disease in an 8-year-8-month-old school-age boy with generalized lymphadenopathy. He was hospitalized under the impression of fever of unknown origin. A diagnosis of Kikuchi's disease was made by cervical lymph node histology. Reviewing the literature of Kikuchi's disease, we found very few reports in young pediatric group. We conclude that Kikuchi's disease should be considered in the differential diagnosis of fever of unknown origin in children, even in the absence of cervical lymphadenopathy.
Full Text Available The article deals with an analysis of infectious disease report in Great Britain that is a member of the European Union. There are listed the infectious diseases and infectious agents of these diseases. There are described in detail how to fill the notification form and the methods and terms of sending it to Public Health England. Attention is focused on the importance of the analysis of infectious disease report in the European Union in the light of cooperation between Ukraine and the EU after the economic component of the Association Agreement has been signed.
Eke, Paul I; Genco, Robert J
This supplement contains papers presented at the 2006 International Association of Dental Research (IADR) symposium entitled "Development of Self-Reported Measures for Population-Based Surveillance of Periodontitis." These papers highlight activities of an independent periodontal disease surveillance workgroup convened by the Division of Oral Health (DOH), Centers for Disease Control and Prevention (CDC), in collaboration with the American Academy of Periodontology, to examine the feasibility of using self-reported measures for population-based surveillance of periodontal disease in the United States. This workgroup was convened in 2003 as part of a CDC periodontal disease surveillance project.
Full Text Available We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for mutations in EPM2A and EPM2B genes were negative. This is the first case report describing an association between congenital generalized lipodystrophy and Lafora disease. Further studies focusing on the relationship between these two diseases and the identification of a third locus for Lafora disease are needed.
Pinto,Rita Mesquita; Manso,Pedro; Urzal,Cecília; Batista, Joana; Aragão,Carlos; Vaz,Francisco Cortez
Mondor's disease is a rare entity characterized by sclerosing thrombophlebitis classically involving one or more of the subcutaneous veins of the breast and anterior chest wall. It is usually a self-limited, benign condition, despite of rare cases of association to cancer. We present the case of a 32 year-old female, breast-feeding, who went to emergency due to left mastalgia for the past week. She was taking antibiotics and non-steroidal anti-inflammatory drugs, previously prescribed for sus...
Fanny Paola Ledezma-Martínez
Full Text Available A case of Kienböck’s disease, defined as a rare clinical condition characterized by pain and limited movement of the radio-carpal joint restricting activities of daily living with impairment in social role and occupational. It is the physician who makes the diagnosis. When the patient is referred for functional rehabilitation, physiotherapist should perform the evaluation using the International Classification of Functioning, Disability and states of Health (ICF, in order to establish the more appropriate treatment plan to allow functionality of the hand.
Chang, Hsiao-Han; Huber, Roland G; Bond, Peter J; Grad, Yonatan H; Camerini, David; Maurer-Stroh, Sebastian; Lipsitch, Marc
To analyse the proportions of protein identity between Zika virus and dengue, Japanese encephalitis, yellow fever, West Nile and chikungunya viruses as well as polymorphism between different Zika virus strains. We used published protein sequences for the Zika virus and obtained protein sequences for the other viruses from the National Center for Biotechnology Information (NCBI) protein database or the NCBI virus variation resource. We used BLASTP to find regions of identity between viruses. We quantified the identity between the Zika virus and each of the other viruses, as well as within-Zika virus polymorphism for all amino acid k-mers across the proteome, with k ranging from 6 to 100. We assessed accessibility of protein fragments by calculating the solvent accessible surface area for the envelope and nonstructural-1 (NS1) proteins. In total, we identified 294 Zika virus protein fragments with both low proportion of identity with other viruses and low levels of polymorphisms among Zika virus strains. The list includes protein fragments from all Zika virus proteins, except NS3. NS4A has the highest number (190 k-mers) of protein fragments on the list. We provide a candidate list of protein fragments that could be used when developing a sensitive and specific serological test to detect previous Zika virus infections.
Serkan Bilge Koca
Full Text Available Glycogen storage disease type 2 (Pompe’s disease is an autosomal recessive, fatal glycogen storage disease presenting with hypotonia and muscle weakness. It is known that deficiency of lysosomal acid alpha-glucosidase (acid maltase leads to progressive generalised myopathy, cardiomyopathy and death in early infancy because of respiratory muscle weakness. Excessive undegradable intracellular glycogen deposition plays a role in the pathogenesis of the disease. Here we report a 3.5 month-old girl presenting with respiratory failure due to pneumonia and hypotonia, who was later diagnosed as Pompe disease.
Full Text Available Huntington disease (HD is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement disorder, dementia, and behavioural disturbances. It is caused by a mutation in IT15 gene on chromosome 4p16.3, which leads to unstable CAG trinucleotide repeat expansion. The onset of juvenile HD occurs before the 2nd decade of life and comprises approximately 10% of total HD patients. Juvenile HD differs in symptomatology and is usually transmitted from paternal side with genetic anticipation phenomenon. Magnetic resonance imaging (MRI of the brain shows specific changes of early affection of caudate nucleus and putamen. Multidisciplinary approach with symptomatic treatment of specific symptoms is the current available management. Gene editing and gene silencing treatment are under trial. Hereby, we introduce a case of an 8-year-old boy, who presented with typical symptoms of juvenile HD, positive family history with genetic anticipation phenomenon and characteristic MRI findings.
This document describes how Lawrence Livermore National Laboratory (LLNL) meets the requirements and management practices of federal regulation 10 CFR 850, 'Chronic Beryllium Disease Prevention Program (CBDPP).' This revision of the LLNL CBDPP incorporates clarification and editorial changes based on lessons learned from employee discussions, observations and reviews of Department of Energy (DOE) Complex and commercial industry beryllium (Be) safety programs. The information is used to strengthen beryllium safety practices at LLNL, particularly in the areas of: (1) Management of small parts and components; and (2) Communication of program status to employees. Future changes to LLNL beryllium activities and on-going operating experience will be incorporated into the program as described in Section S, 'Performance Feedback.'
Bailey, Charles L.
Research for the DOE Infectious Disease Proteome Biomarkers focused on Rift Valley fever virus (RVFV) and Venezuelan Equine Encephalitis Virus (VEEV). RVFV and VEEV are Category A and B pathogens respectively. Among the priority threats, RVFV and VEEV rank high in their potential for being weaponized and introduced to the United States, spreading quickly, and having a large health and economic impact. In addition, they both have live attenuated vaccine, which allows work to be performed at BSL-2. While the molecular biology of RVFV and VEEV are increasingly well-characterized, little is known about its host-pathogen interactions. Our research is aimed at determining critical alterations in host signaling pathways to identify therapeutics targeted against the host.
Savettieri, G; Camarda, R; Galatioto, S; Bonavita, V
An atypical case of Refsum disease is reported together with the peripheral nerve morphological data. The body fluids must be assayed for phytanic acid whenever an atypical chronic peripheral neuropathy is observed.
Jang, Han Won [Yeungnam University College of Medicine, Daegu (Korea, Republic of)
Marchiafava-Bignami disease is a rare complication of chronic alcoholism and this malady typically manifests as callosal lesion. I report here on one patient with Marchiafava-bignami disease (MBD) who has symmetric restricted diffusion in both lateral-frontal cortices, in addition to the callosal lesion.
Russo, R; Vertemati, G; Carzaniga, P L; Ballerini, A; Rossi, G; Zuccoli, E
Castleman's disease is an unusual condition characterized by uncontrolled growth of lymphoid tissue. The first case was recorded by Castleman in 1956. In this paper a case of the above-mentioned disease is reported with regard to its unusual clinica-histologic aspect (localized form of plasmacellular type) and surgical therapeutic strategies.
Sanjay N. Agrawal
Full Text Available A female patient presented with progressive weakness, asthenia and generalized hyperpigmentation. The characteristic hyperpimentation pointed towards possibility of Addison’s disease which was proved by markedly decreased plasma cortisol levels, hyponatremia and hyperkalemia. This could be one of the very few cases of Addison’s Disease reported.
Liao Ting-ting; Wu Wei; Wan Qi; Cui Yu-gui; Liu Jia-yin
Objective:To assess the efficiency of the PCR combined DNA sequencing to ascertain CAG repeat size of Huntington's disease(HD)gene as for gene diagnosis of HD.Method:Three patients with HD were diagnosed genetically with the technology of polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis by assessing the CAG repeat size of HD gene.DNA sequencing then was used as verification test for HD gene.Results:Nine members of three nuclear families were included in this study,three patients were HD proband.In those families,CAG repeats of all spouse of propositus were in normal range.CAG repeats of all propositus and their descendants with the normal allele were in normal range,while CAG copy number of the other mobigenous allele was obviously abnormal.Conclusion:PCR combined DNA sequencing can be used to effectively ascertain CAG repeat of HD gene.CAG-repeat expansion mutations were accounted for 99％ of HD cases,so HD can be accurately diagnosed by this method.
Full Text Available Preiser’s syndrome is a rare osteochondrosis affecting the carpal scaphoid, frequently related with an avascular necrosis. Osteoarthritic changes of the articular cartilage, local synovitis, and loose fragments are the most common findings associated with this syndrome. We report here two patients with Preiser’s syndrome, one with and one without a traumatic history, both presenting with pain, swelling and functional impairement of the wrist. In one patient radiography was sufficient for the diagnosis, in the other NMR was necessary to clearly establish type and extension of the lesion. Differential diagnosis may be sometimes difficult and the therapeutic approach on depends on several aspects, including etiology and type of occupational activity.
In 2014, 69 diseases and conditions were nationally notifiable in Australia. States and territories reported a total of 275,581 notifications of communicable diseases to the National Notifiable Diseases Surveillance System, an increase of 22% on the number of notifications in 2013. In 2014, the most frequently notified diseases were sexually transmissible infections (105,719 notifications, 38% of total notifications), vaccine preventable diseases (101,400 notifications, 37% of total notifications), and gastrointestinal diseases (40,367 notifications, 15% of total notifications). There were 17,411 notifications of bloodborne diseases; 8,125 notifications of vectorborne diseases; 1,942 notifications of other bacterial infections; 615 notifications of zoonoses and 2 notifications of quarantinable diseases.
Iburg, Kim Moesgaard; Rasmussen, Niels Kristian; Avlund, Kirsten
OBJECTIVE: To estimate and rank the relative severity of self-reported diseases and symptoms in Denmark. METHOD: The 1994 Danish Health and Morbidity Survey collected data from 5,472 Danes older than 16 years of age. Interviews (response frequency: 79%) gave information on diseases and symptoms......; a self-administered SF-36 questionnaire (response frequency: 64%) provided information on health-related quality of life. The severity of diseases and symptoms was represented by the health-related quality of life scores that individuals suffering from particular diseases and symptoms obtained...
Peroni, Diego G; Paiola, Giulia; Tenero, Laura; Fornaro, Martina; Bodini, Alessandro; Pollini, Federica; Piacentini, Giorgio L
We describe a case of a 9-year-old girl who presented chronic urticaria associated with celiac disease. The prevalence of the manifestation of chronic urticaria in celiac disease is unknown but increase in atopic immunologic disorders has been reported in the setting of gluten enteropathy. Relationship between the clinical manifestations is not clear. The present case of subclinical celiac disease diagnosis in an otherwise asymptomatic child with chronic urticaria further reinforces the evidence that differential for celiac disease warrants to be always considered in children with refractory urticaria.
Ali Zohaib*, Zeeshan Taj, Awais-ur-Rehman Sial, Muhammad Ahsan Naeem and Muhammad Saqlein
Full Text Available This report describes the lower urinary tract disease (LUTD in four male cats with two different etiologies. All animals were under three years of age and on commercial dry diet. Treatment guidelines prescribed for obstructive and non-obstructive cases were followed. This appears to be the first clinical report on feline LUTD in Pakistan.
Gujral Dorothy M
Full Text Available Abstract Introduction Bevacizumab is a monoclonal antibody that inhibits the action of vascular endothelial growth factor (VEGF thereby acting as an angiogenesis inhibitor. As a result, supply of oxygen and nutrients to tissues is impaired and tumour cell growth is reduced. Reported side effects due to bevacizumab are hypertension and increased risk of bleeding. Bowel perforation has also been reported. Periodontal disease in patients on bevacizumab therapy has not been reported before. Case Presentation We report a case of a forty-three year old woman who developed periodontitis whilst receiving bevacizumab for lung cancer. The periodontal disease remained stable on discontinuation of the drug. Conclusion Further investigations are needed to determine the mechanism for bevacizumab-induced periodontal disease.
This report evaluates the 1995 US Air Force (USAF) Sexually Transmitted Diseases ( STD ) Prevention and Control Program. The report analyzes data from...88 medical treatment facilities worldwide and compares 1995 data with that from 1992-94. The 1995 USAF active duty total STD incidence rate was 7.64...cases per 1,000 personnel. This rate represents a 18.9% decline from the 1994 reported STD incidence rate of 9.41 per 1,000 personnel. Among active
Full Text Available Abstract Introduction Wilson disease is rarely reported among African children. This report describes the second case report of a Nigerian child with Wilson disease in three decades. Case presentation An eight-year-old African boy presented with generalized oedema and ascites and proteinuria. Over the next three weeks he developed conjugated hyperbilirubinaemia, severe coagulopathy and prominent extrapyramidal features consisting of rigidity, tremors at rest and in action, shuffling gait, slurred speech and emotional lability. Slit-lamp examination of his eyes revealed Kayser-Fleischer rings and sunflower cataracts. His serum caeruloplasmin level was 5mg/dL. Using the scoring system proposed by the 8th International Meeting of Wilson Disease and Menkes Disease, a diagnosis of Wilson disease was made. Conclusions Wilson disease does occur in African children, although the diagnosis is rarely made. A diagnosis of Wilson disease should be entertained in the evaluation of African children presenting with liver dysfunction and/or extrapyramidal neurological features.
Kretzschmar Mirjam EE
Full Text Available Abstract Background Timely reporting of infectious disease cases to public health authorities is essential to effective public health response. To evaluate the timeliness of reporting to the Dutch Municipal Health Services (MHS, we used as quantitative measures the intervals between onset of symptoms and MHS notification, and between laboratory diagnosis and notification with regard to six notifiable diseases. Methods We retrieved reporting data from June 2003 to December 2008 from the Dutch national notification system for shigellosis, EHEC/STEC infection, typhoid fever, measles, meningococcal disease, and hepatitis A virus (HAV infection. For each disease, median intervals between date of onset and MHS notification were calculated and compared with the median incubation period. The median interval between date of laboratory diagnosis and MHS notification was similarly analysed. For the year 2008, we also investigated whether timeliness is improved by MHS agreements with physicians and laboratories that allow direct laboratory reporting. Finally, we investigated whether reports made by post, fax, or e-mail were more timely. Results The percentage of infectious diseases reported within one incubation period varied widely, between 0.4% for shigellosis and 90.3% for HAV infection. Not reported within two incubation periods were 97.1% of shigellosis cases, 76.2% of cases of EHEC/STEC infection, 13.3% of meningococcosis cases, 15.7% of measles cases, and 29.7% of typhoid fever cases. A substantial percentage of infectious disease cases was reported more than three days after laboratory diagnosis, varying between 12% for meningococcosis and 42% for shigellosis. MHS which had agreements with physicians and laboratories showed a significantly shorter notification time compared to MHS without such agreements. Conclusions Over the study period, many cases of the six notifiable diseases were not reported within two incubation periods, and many were
D'hondt, R; Thomas, J; Van Oosterom, A T; Dewolf-Peeters, C
Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited disorder with a predisposition to develop a wide variety of lesions: retinal, cerebellar, spinal and medullar hemangioblastomas, renal cell carcinomas, phaeochromocytomas, and renal, pancreatic and epididymal cysts are the most frequent manifestations of the disease. The prevalence of VHL disease has been estimated to be 1 per 36,000 persons. We report the case of a 68-year-old woman with Von Hipple-Lindau disease who developed high fever with pulmonary and hepatic lesions proven to be Hodgkin's disease on biopsy. To our knowledge, this is the first report of Hodgkin's disease in a patient with Von Hippel-Lindau.
Full Text Available We report the first case of proliferative sickle cell retinopathy in a patient with hemoglobin SE (Hb SE disease. Only a few dozen cases of Hb SE disease have been reported previously, and none had evidence of proliferative retinopathy. A 56-year-old African American man presented to our clinic for routine examination and was found to have sea-fan peripheral neovascularization bilaterally without maculopathy. Hemoglobin analysis revealed Hb SE heterozygosity. Sector laser photocoagulation to areas of nonperfusion in both eyes resulted in regression of the peripheral neovascularization over a period of 6 months. Although Hb SE disease is rare, the incidence of Hb SE disease is postulated to rise in the future. Awareness of its potential ocular complications is needed to appropriately refer these patients for screening.
Shiji, P V; Viswanath, Veena; Sreekumar, Sreena; Sreejith, R; Majeed, Abdul; Udayabhaskaran, V
Kyasanur Forest disease is a tick-borne arboviral fever with biphasic course of illness with prominent hemorrhagic features in the first phase and encephalitic picture in the second phase. So far it has been described in the southern Karnataka only. Here we report a case of Kyasanur Forest Disease for the first time from Kerala in an 18 year old male from Noolpuzha - Alathoor colony of Wayanad district.
Cengiz,Seda; Cengiz, M ?nan?; Sara?, Y ?inasi
Introduction Chronic regurgitation of gastric acids in patients with gastroesophageal reflux disease may cause dental erosion, which can lead in combination with attrition or bruxism to extensive loss of coronal tooth tissue. Case presentation This clinical report describes treatment of severe tooth wear of a gastroesophageal reflux disease patient who is 54-year-old Turkish male patient. After his medical treatment, severe tooth wear, bruxism and decreased vertical dimensions were determined...
Karlawish, Jason; Jack, Clifford R; Rocca, Walter A; Snyder, Heather M; Carrillo, Maria C
In the history of medicine, one means to progress is when we make the decision that our assumptions and definitions of disease are no longer consistent with the scientific evidence, and no longer serve our health care needs. The arc of scientific progress is now requiring a change in how we diagnose Alzheimer's disease. Both the National Institute on Aging-Alzheimer's Association (NIA-AA) 2011 workgroup and the International Work Group (IWG) have proposed guidelines that use detectable measures of biological changes in the brain, commonly known as biological markers, or biomarkers, as part of the diagnosis. This Special Report examines how the development and validation of Alzheimer's disease biomarkers-including those detectable in the blood or cerebral spinal fluid, or through neuroimaging-is a top research priority. This has the potential to markedly change how we diagnose Alzheimer's disease and, as a result, how we count the number of people with this disease. As research advances a biomarker-based method for diagnosis and treatment at the earliest stages of Alzheimer's disease, we envision a future in which Alzheimer's disease is placed in the same category as other chronic diseases, such as cardiovascular disease or diabetes, which can be readily identified with biomarkers and treated before irrevocable disability occurs. Copyright © 2017 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.
Leite, Alberto; Oliveira, Narciso; Rocha, Manuela
McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L), lactate dehydrogenase (624 U/L), and myoglobulin (671 ng/mL). A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and “liberated” once McArdle disease was diagnosed 40 years later. PMID:23754915
Reyes Molón, L; Yáñez Sáez, R M; López-Ibor Alcocer, M I
Huntington's disease is the most frequent neurodegenerative disease with a prevalence of fewer than 10 cases per 10,000 inhabitants; the juvenile form is responsible for less than 10% of all cases. Huntington's disease belongs to the group known as "triad syndromes," which evolve with cognitive, motor and neuropsychiatric manifestations. Around 30% of patients debut with behavioral symptoms, which are a major challenge for management by patients, families, and caregivers. Huntington's disease (HD) is reviewed and a case of juvenile onset is reported in this article. The characteristics of juvenile-onset Huntington's disease (HD) differ from those of adult-onset HD, as chorea does not occur, although bradykinesia, dystonia, and signs of cerebellar disorder, such as rigidity, are present, frequently in association with convulsive episodes and psychotic manifestations.
Full Text Available Fahr’s disease is a rare disorder where bilateral, almost symmetric, calcium and other mineral deposits occur in basal ganglia, cerebellar dentate nucleus and white matter. Common clinical findings of the disease are characterizing parkinsonism, dystonia, chorea, ataxia and psychiatric symptoms. Fahr’s disease is associated with various metabolic disorders especially with parathyroid disorders. In this article a 65 year old female patient with vision loss and headache, bilateral basal ganglia and cerebellar calsification on Computerized Tomography examination and a 45 year old female patient with convulsive state and bilateral caudat nucleus calcification on Computerized Tomography examination were reported.
Abdullah Sulieman Terkawi
Full Text Available Leigh disease is an extremely rare disorder, characterized by a progressive neurodegenerative course, with subacute necrotizing encephalomyelopathy. It usually presents in infancy with developmental delay, seizures, dysarthria, and ataxia. These patients may also develop episodes of lactic acidosis that usually lead to respiratory failure and death. Due to the rarity of the condition, the most appropriate anesthetic plan remains unclear. We present a patient with Leigh disease, who required general anesthesia. The pathogenesis of the disease is discussed and previous reports of perioperative care from the literature are reviewed.
Ricardo Evangelista Marrocos de Aragão
Full Text Available Optic neuropathy due to cat scratch disease is a relatively infrequent occurrence associated with macular star formation and is characterized by sudden painless loss of vision mostly unilateral. Bartonella henselae is well recognized as the etiologic agent in cat scratch disease. Ocular complications of the disease occur in up to 10% of patients and include neuroretinitis. Ocular bartonelosis is usually self-limited with complete or near-complete recovery of vision in otherwise healthy patients. A case of a boy with neuroretinitis caused by B. henselae is reported.
Full Text Available Abstract Introduction Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far. Case presentation We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri. Conclusion This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.
Hamilton, Jodi; Mandel, Louis
Castleman disease (CD), a benign lymphoproliferative disorder that affects lymph nodes, is uncommon in children, with only approximately 100 cases published. Although 23% of pediatric CD cases are found in the neck, there is no substantial reported percentage found in the salivary glands, especially the submandibular salivary gland (SMSG). A pediatric case of CD involving the SMSG is reported because of its extreme rarity. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.
Kim, Hee Young; Kim, Baek Hyun; Lee, Young Hen; Kang, Chang Ho; Lee, Guen Young; Seo, Bo Kyoung; Lee, Ju Han [Korea University Ansan Hospital, Ansan (Korea, Republic of); Kim, Ye Lim; Hong, Suk Ju [Korea University Guro Hospital, Seoul (Korea, Republic of)
Kimura disease is a rare chronic inflammatory condition of unknown origin that occurs mainly in young Asian male patients. Kimura disease is characterized by painless subcutaneous swelling and lymphadenopathy of the head and neck, associated with peripheral blood eosinophilia and increased serum IgE. According to some previous reports about a rare form of Kimura disease of the upper arm, soft tissue masses of the subcutaneous fat layer were demonstrated in the medial trochlear area, which showed strong and homogenous enhancement with marked perilesional edema and fat infiltrations on enhanced magnetic resonance imaging (MRI). In this case report, we introduce a case of Kimura disease of the upper arm in a 13-year male patient, which was seen as a well-marginated soft tissue mass without perilesional edema or fatty infiltrations on MRI. In this case study, we discuss the characteristics of the clinical and pathologic findings associated with unusual MRI findings, and report the Kimura disease with a different pathophysiology by anti-inflammatory drugs.
Giorgio La Villa; Peietro Pantaleo; Roberto Tarquini; Lino Cirami; Federico Perfetto; Francesco Mancuso; Giacomo Laffi
We reported a female patient with unrecognized celiac disease and multiple extra intestinal manifestations, mainly related to a deranged immune function, including macroamilasemia, macrolipasemia, IgA nephropathy,thyroiditis, and anti-b2-glicoprotein-1 antibodies, that disappeared or improved after the implementation of a gluten-free diet.
Berk, C. [Department of Neurosurgery, Ankara University Faculty of Medicine, Avicenna Medical Centre, Ankara (Turkey); Ciftci, E. [Camlik Sitesi, Ankara (Turkey); Erdogan, A. [Department of Radiology, Ankara University Faculty of Medicine, Avicenna Medical Centre, Ankara (Turkey)
A rare case of pathologically proven primary intraspinal extradural hydatid disease of the thoracic region with spinal cord compression is reported. The diagnosis was established preoperatively on the basis of the MRI findings. The patient underwent surgery and recovered completely. (orig.) With 2 figs., 12 refs.
Song, Dong Jin; Whang, Il Soon; Choi, Hyung Wook; Jeong, Cheol Yun; Jung, Sung Hoon
Crohn's disease (CD) can involve any part of the gastrointestinal tract from the mouth to anus. However, gastroduodenal CD is rare with a frequency reported to range between 0.5% and 4.0%. Most patients with gastroduodenal CD have concomitant lesions in the terminal ileum or colon, but isolated gastroduodenal Crohn's disease is an extremely rare presentation of the disease accounting for less than 0.07% of all patients with CD. The symptoms of gastroduodenal CD include epigastric pain, dyspepsia, early satiety, anorexia, nausea, vomiting, and weight loss. The diagnosis of gastroduodenal CD requires a high level of clinical suspicion and can be made by comprehensive clinical evaluation. Here we report a rare case of isolated duodenal CD not confirmed by identification of granuloma on biopsy, but diagnosed by clinical evaluation.
FRANCO CLÉLIA MARIA RIBEIRO
Full Text Available Moyamoya disease (MMD is a chronic occlusive cerebrovascular disease of unknown etiology reported mainly in the Japanese. Most cases occur in children. The disease is rare in non-Oriental adults manifesting itself mostly as intracerebral hemorrhages. We describe MMD in 2 non-Oriental young adults and one adolescent that developed cerebral infarctions. The adults were medicated with aspirin and no medication was given to the adolescent. All patients did not deteriorate in a follow-up period from 1 to 4 years. Although rare, MMD is an important cause of stroke in young individuals and may well be underreported: only 18 patients have been reported till 1997 in Brazil. Neurologists should include MMD in differential diagnosis of ischemic and hemorrhagic strokes in young adults.
A. P. Dash
Full Text Available Arthropod-borne viruses (arboviruses have become significant public health problems, with the emergence and re-emergence of arboviral diseases nearly worldwide. The most populated Southeast Asia region is particularly vulnerable. The arboviral diseases such as dengue (DEN, Japanese encephalitis (JE, West Nile virus (WNV, chikungunya fever (CHIK, hemorrhagic fevers such as Crimean-Congo hemorrhagic (CCHF fever, Kyasanur forest disease virus (KFDV, etc. are on the rise and have spread unprecedentedly, causing considerable burden of disease. The emergence/re-emergence of these diseases is associated with complex factors, such as viral recombination and mutation, leading to more virulent and adaptive strains, urbanization and human activities creating more permissive environment for vector-host interaction, and increased air travel and commerce. Climate is a major factor in determining the geographic and temporal distribution of arthropods, the characteristics of arthropod life cycles, the consequent dispersal patterns of associated arboviruses, the evolution of arboviruses; and the efficiency with which they are transmitted from arthropods to vertebrate hosts. The present and future arboviral threats must be mitigated by priority actions such as improving surveillance and outbreak response, establishing collaboration and communication intersectorally, and strengthening the prevention and control programmes along with improving biosafety aspects with regards to highly infectious nature of these arboviral diseases. Evidence from research needs to be generated and priority areas for research defined.
Syed, S K; Sears, D A; Werch, J B; Udden, M M; Milam, J D
This article reports the details of delayed hemolytic transfusion reactions in four patients with sickle cell disease. These cases demonstrate the characteristics of the reactions, the significant risks involved, and the principles useful in diagnosis and treatment. Patients with sickle cell disease are at particular risk for delayed hemolytic transfusion reactions because they may be transfused at intervals over many years; they frequently form alloantibodies because of antigenic differences from the donor population; and they may receive emergency care in different hospitals where transfusion records are not available. In addition, exchange transfusions, which are often used for patients with sickle cell disease and which were given in three of these cases, raise the risks through increased exposure to foreign erythrocyte antigens and through an increased volume of erythrocytes susceptible to hemolysis. It was concluded that the hazards of these transfusion reactions justify preventive measures, such as extended erythrocyte phenotyping of patients with sickle cell disease and extended phenotypic matching of transfused cells.
Full Text Available Grover's disease is a transient acantholytic dermatosis of unknown cause, manifesting clinically as a papular skin eruption that is usually located on the anterior chest and abdomen. Histologically characterized by an acantholytic pattern, it has been associated with numerous disorders, including hematologic malignancies, chronic renal failure, and HIV infection, as well as with chemotherapy and bone marrow and/or kidney transplant. Evaluation of followup and treatment is often complicated by spontaneous remission and the occasionally fluctuant course of the disease. Here we report the case of a patient with sudden onset of Grover's disease after heart transplantation. To the best of our knowledge, this is the first observation of Grover's disease as diagnosed after heart transplantation.
Full Text Available Alberto Leite, Narciso Oliveira, Manuela RochaInternal Medicine Department, Hospital de Braga, PortugalAbstract: McArdle disease (glycogen storage disease type V is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L, lactate dehydrogenase (624 U/L, and myoglobulin (671 ng/mL. A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and “liberated” once McArdle disease was diagnosed 40 years later.Keywords: McArdle disease, glycogen storage disease, myophosphorylase
Choudhary, Sandeep; Alam, Anwer; Dewan, Vivek; Yadav, Dinesh; Dubey, N K
Addison's disease is most commonly due to autoimmune adrenalitis and tuberculosis and refers to primary hypoadrenalism caused by a total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhea, hypotension and hyperpigmentation of skin. We herein report a case of primary adrenal insufficiency presenting with fever and seizures in an 11-yr-old boy. His symptoms resolved after starting specific therapy. This kind of presentation of Addison's disease is rather unusual.
Altınay Göksel Karatepe
Full Text Available Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3 or not (type 1. In the majority of patients there are hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is the most disabling manifestation. In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed.
Alzaben, Khalid R; Samarah, Omar Q; Obeidat, Salameh S; Halhouli, Oday; Al Kharabsheh, Murad
Charcot-Marie-Tooth disease comprises a group of disorders characterized by progressive muscle weakness and wasting. Reviewing the anaesthetic literature produced conflicting reports about the best anaesthetic options for patients with CMTD; as they are at increased risk of prolonged response to muscle relaxants, malignant hyperthermia and risks of regional anaesthesia. We present a case of the successful use of total intravenous anaesthesia with dexmedetomidine and propofol combined with caudal block using bupivacaine mixed with dexmedetomidine without any complications, for a 17 year old male patient with Charcot Marie-Tooth disease who underwent a lower limb orthopedic surgery.
Ben Rhouma Faten
Full Text Available Abstract Background Gaucher disease (GD is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease. Findings Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state. Conclusion The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.
You-shi LIU; You-hong FANG; Ling-xiang RUAN; You-ming LI; Lin LI; Ling-ling JIANG
Takayasu's arteritis (TA), also known as the "pulseless disease," is a chronic vasculitis of the aorta and aortic branches. TA with Crohn's disease is rare and has not been documented in China before. In this paper we report on a case of Takayasu's arteritis associated with concurrent Crohn's disease. A 17-year-old Chinese male developed upper limb sourness and a sensation of fatigue, and his upper limb pulses were absent. He was diagnosed with TA and underwent an axillary artery bypass with autolo-gous great saphenous vein on the left subclavian artery. After the surgery, he regained the normal blood pressure. This patient also had years of diarrhea and developed an anal canal ulcer, and was diagnosed with inflammatory bowel disease and ulcerative colitis before. Five months after the TA surgery, he was hospitalized for severe stomachache and diarrhea and was finally diagnosed with Crohn's disease. The possible pathophysiological mechanisms responsible for concurrent existence of TA and Crohn's disease may be associated with immune disorders, especially autoimmunity.
Y Uday Shankar
Full Text Available Paget disease of bone (PDB is a chronic progressive disease of the bone of uncertain etiology, characterized initially by an increase in bone resorption, followed by a disorganized and excessive formation of bone, leading to pain, fractures, and deformities. It can manifest as a monostotic or polyostotic disease. The prevalence of PDB is common in the Anglo-Saxon population, but relatively rare in India. The disease is often asymptomatic and commonly seen in an aging population. The diagnosis of the disease is mostly based on radiological examination and on biochemical markers of bone turnover. Markedly elevated serum alkaline phosphatase (SAP is a constant feature while calcium and phosphate levels are typically within normal limits. It is being successfully treated by biphosphonates, a group of anti-resorptive drugs, thereby decreasing the morbidity and mortality associated with the disease. We report a classic case of PDB with craniofacial involvement resulting in Leontiasis Ossea (lion like face, cotton wool appearance of the skull and elevated SAP.
Tagai, Kenji; Nagata, Tomoyuki; Shinagawa, Shunichiro; Tsuno, Norifumi; Ozone, Motohiro; Nakayama, Kazuhiko
Psychotic symptoms often occur as a complication in Parkinson's disease patients, and a set of criteria for Parkinson's disease with psychosis (PDPsy) has been established. Among these criteria, hallucinations are one of the specific symptoms, with visual hallucinations being the most common. While atypical antipsychotic agents are often used for the treatment of PDPsy, adverse effects, including extrapyramidal symptoms, often hinder its continuation or tolerance. There have been some reports and reviews indicating that antidepressants may be effective for PDPsy and other forms of dementia with psychosis. In this report, we present a patient with PDPsy who was treated with one of the new-generation antidepressants, mirtazapine. Mirtazapine improved the patient's refractory psychotic symptoms, especially her visual hallucinations, without worsening her motor symptoms.
Sonçaği, Arzu; Devrim, Ilker; Karagöz, Tevfik; Dilber, Embiya; Celiker, Alpay; Ozen, Seza; Seçmeer, Gülten
Kawasaki disease (KD) is primarily the systemic vasculitis of childhood that affects mainly the medium-sized arteries, such as the coronary arteries. KD is the leading cause of acquired heart disease, whereas the incidence of rheumatic fever has declined. The most serious complication is coronary artery involvement. Among the children with KD who developed cardiac complications, pericarditis is a rare complication, with an incidence of 0.07%. We report our experience in a 5.5-year-old child with KD complicated with aneurysm of the left anterior descendant coronary artery and septated pericardial effusion, which has not been reported in the literature. The pericardial effusion disappeared very dramatically with intravenous immunoglobulin (IVIG) therapy. We would like to point out that septated pericardial effusion in cases of KD do not need any further therapy other than IVIG and high-dose acetylsalicylic acid.
Pereira, Manoela Seadi; Munerato, Maria Cristina
Inflammatory bowel diseases (IBD) are known as chronic inflammatory disorders of the digestive tract, represented mainly by Crohn’s disease (CD) and ulcerative colitis (UC). Among the main oral manifestations of IBD are cobblestoning of the oral mucosa, labial swellings with vertical fissures, pyostomatitis vegetans, angular cheilitis, perioral erythema, and glossitis. In this sense, understanding these nosological entities by dentists would help reach early and differential diagnosis. Thus, two case reports are presented and discussed based on theoretical references obtained by a literature review. The first case report refers to an adult patient whose IBD diagnosis was established after stomatological assessment. The second case was a patient with CD diagnosed in childhood with characteristic oral lesions. PMID:26864508
Sealy Peter L
Full Text Available Abstract Introduction Sickle cell disease has been associated with many renal structural and functional abnormalities. Collapsing glomerulopathy or the collapsing variant of focal segmental glomerulosclerosis is a rare clinicopathologic entity in patients with sickle cell disease that requires timely diagnosis and aggressive management. Case presentation In this case report we describe a 21-year-old African-American woman with a medical history of significant sickle cell disease and asthma. She was admitted for pain, decreased urine output, bilateral leg swelling and reported weight gain. During her period of hospitalisation she developed acute renal failure requiring dialysis. Further investigation revealed the collapsing variant of focal segmental glomerulosclerosis. Conclusions Although focal segmental glomerulosclerosis is a common feature of sickle cell nephropathy, the collapsing variant of focal segmental glomerulosclerosis or collapsing glomerulopathy has been rarely documented. Even when other risk factors are controlled, collapsing glomerulopathy has a very poor prognosis. This is a rare case of a patient with massive proteinuria presenting as acute renal failure with a very poor response to corticosteroids and a much faster rate of progression to end-stage renal disease.
Full Text Available We aim to describe the epidemiology of selected vaccine-preventable diseases in New South Wales (NSW for 2012. Data from the NSW Notifiable Conditions Information Management System were analysed by: local health district of residence, age, Aboriginality, vaccination status and organism, where available. Risk factor and vaccination status data were collected by public health units for cases following notification under the NSW Public Health Act 2010. The largest outbreak of measles since 1998 was reported in 2012. Pacific Islander and Aboriginal people were at higher risk as were infants less than 12 months of age. Notifications of invasive pneumococcal disease (IPD in children less than five years declined; however, the overall number of notifications for IPD increased. Mumps case notifications were also elevated. There were no Haemophilus influenzae type b case notifications in children less than five years of age for the first time since the vaccine was introduced. Invasive meningococcal disease case notifications were at their lowest rates since case notification began in 1991. Case notification rates for other selected vaccine-preventable diseases remained stable. Vaccine-preventable disease control is continually strengthening in NSW with notable successes in invasive bacterial infections. However, strengthening measles immunization in Pacific Islander and Aboriginal communities remains essential to maintain measles elimination.
Full Text Available Abstract Introduction Primary Hodgkin's disease of the nasopharynx is a rare and uncommon event. It has a relatively favorable prognosis and represents less than 1% of all documented cases of Hodgkin's disease. Case presentation A 40-year-old Arabic man presented initially with bilateral nasal obstruction, which was then followed by a significant involvement of his bilateral cervical lymph nodes. His nasopharyngeal biopsy together with immunohistochemistry analysis showed negative expressions of CD15, CD20 and CD3, but positive expressions of CD30 and epithelial membrane antigen. This confirmed the diagnosis of nasopharyngeal Hodgkin's disease of a mixed cellularity subtype. The disease was at stage IIEA. Our patient received four cycles of chemotherapy, which yielded a 75% response. This was followed by irradiation of his Waldeyer's ring and supraclavicular lymph nodes. He remains in good local control after 30 months of follow-up. Conclusion The literature review and our case report discuss the optimal management of this rare and atypical localization of Hodgkin's disease, which should be differentiated from lymphoproliferations associated with Epstein-Barr virus and non-Hodgkin's lymphoma.
Toshio Nakamura; Hiroaki Yagi; Kiyotaka Kurachi; Shohachi Suzuki; Hiroyuki Konno
We report here a very rare case of intestinal Behcet's disease with pyoderma gangrenosum. A 16-year-old woman who was diagnosed with intestinal Behcet's disease by the presence of cutaneous pathergy together with two major criteria (oral and genital aphthoses) and one minor criterion (gastrointestinal manifestations), was referred to our hospital with a left lower leg ulcer and abdominal pain in September 1989. Colonoscopy demonstrated flare-up colitis involving the entire colon. Her lower leg lesion was a painful destructive ulcer with an irregular margin and a ragged overhanging edge. Based on these clinical and laboratory findings, we diagnosed her cutaneous ulcer as pyoderma gangrenosum developing with exacerbated intestinal Behcet's disease.Her cutaneous and intestinal lesions were poorly controlled though she received oral prednisolone treatment for a month. Because of aggravated abdominal symptoms with peritoneal irritation, we performed total colectomy in November 1989. The resected specimen was histologically compatible with intestinal Behcet's disease showing severe inflammation with deep ulcerations and neutrophil accumulation. Subsequently,pyoderma gangrenosum rapidly improved. This clinical course may suggest the close relationship between pyoderma gangrenosum and intestinal Behcet's disease.
Akamatsu, Yosuke; Fujimura, Miki; Uenohara, Hiroshi; Shimizu, Hiroaki; Tominaga, Teiji
Progressive moyamoya disease in pregnancy and puerperium has not been reported previously. Here, we present a 39-year-old woman who had been found to have moderate stenosis of right middle cerebral artery (MCA) 4 years prior to her pregnancy, finally suffering minor completed stroke due to progressive moyamoya disease at the early postpartum period. Three days after cesarean section without any complication, she developed cerebral infraction at right hemisphere, when magnetic resonance angiography indicated apparent progression of the proximal MCA stenosis. Catheter angiography demonstrated nearly occlusion of the right terminal internal carotid artery (ICA) and the development of an abnormal vascular network at the base of the brain as well as MCA stenosis, indicating a definitive diagnosis of moyamoya disease with unilateral involvement. The patient underwent superficial temporal artery-middle cerebral artery anastomosis 1 month after the onset of stroke, and she did not manifest as further neurological events during the follow-up period of 2 years. Moyamoya disease could newly develop in pregnancy and puerperium, which should be noted as a pitfall of the management of moyamoya disease with pregnancy.
Tran, Dorothy; Greenhill, William; Wilson, Stephen
The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.
Full Text Available Abstract Introduction Legionnaires' disease is recognized as a multi-systemic illness. Afflicted patients may have pulmonary, renal, gastrointestinal tract and central nervous system complications. However, renal insufficiency is uncommon. The spectrum of renal involvement may range from a mild and transient elevation of serum creatinine levels to anuric renal failure requiring dialysis and may be linked to several causes. In our present case report, we would like to draw attention to the importance of the pathological documentation of acute renal failure by reporting a case of a patient with acute tubulointerstitial nephritis complicating Legionnaires' disease. Case presentation A 55-year-old Caucasian man was admitted to our hospital for community-acquired pneumonia complicated by acute renal failure. Legionella pneumophila serogroup type 1 was diagnosed. Although the patient's respiratory illness responded to intravenous erythromycin and ofloxacin therapy, his renal failure worsened, he became anuric, and hemodialysis was started. A renal biopsy was performed, which revealed severe tubulointerstitial nephritis. After initiation of steroid therapy, his renal function improved dramatically. Conclusions This case highlights the importance of kidney biopsies in cases where acute renal failure is a complicating factor in Legionnaires' disease. If the presence of acute tubulointerstitial nephritis can be confirmed, it will likely respond favorably to steroidal treatment and thus irreversible renal damage and chronic renal failure will be avoided.
Full Text Available Danon disease, a rare glycogen storage disease, is a dominant X-linked disorder. It is due to mutation in gene for lysosome-associated membrane protein 2 (LAMP 2. The LAMP 2 gene is located on Xq24, and its mutation causes primary deficiency of LAMP 2 and myocyte hypertrophy by accumulations of vacuoles containing glycogen. Danon disease is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM, proximal myopathy and mental retardation. Myopathy and mental retardation can be absent, and cardiomyopathy is usually hypertrophic. This is a case report of the patient with genetically confirmed Danon disease and mixed cardiomyopathy, but without myopathy and mental retardation. ECG showed typical Wolff-Parkinson-White (WPW pattern while echocardiography demonstrated hypertrophy and dilatation of all cardiac chambers with impaired systolic and diastolic function. Male sex, early onset of symptoms, massive hypertrophy of the myocardium and ventricular preexcitation indicate a genetic basis for HCM. Therapeutic measures, except heart transplantation, do not improve prognosis substantially. Only an accurate diagnosis in patients with unexplained HCM helps in establishing of the appropriate treatment strategies and adequate genetic consultation. .
Cristiane Rúbia Ferreira
Full Text Available Acute erythroid leukemia (AEL is a rare subtype of acute myeloid leukemia(AML, characterized by predominant erythroid proliferation. The 2008 WorldHealth Organization (WHO classification of AML defined two AEL subtypes:erythroleukaemia (EL, in which erythroid precursors account for 50% or moreof all nucleated bone marrow cells and myeloblasts account for 20% or more ofthe nonerythroid cell population; and pure erythroid leukemia (PEL, in whicherythroid precursors account for 80% or more of all nucleated bone marrowcells. We report the case of an elderly female patient with wasting syndromeand pancytopenia without evidence of blasts in peripheral blood. A diagnosisof PEL was established on the basis of bone marrow biopsy findings. Thepatient died on postadmission day 20, and an autopsy was performed. Wereclassified the disease as EL on the basis of the autopsy findings, whichincluded myeloblasts accounting for more than 20% of the nonerythroid cellsin the bone marrow, as well as leukemic infiltration and myeloid metaplasia insolid organs, such as the liver, spleen, kidneys, adrenal glands, and abdominallymph nodes. A rare disease, AEL accounts for less than 5% of all AMLs and ispractically a diagnosis of exclusion. Autopsy reports of AEL are extremely rarein the literature. We demonstrate that in the case reported here, leukemia cellstended to infiltrate solid organs with myeloid metaplasia. Our findings alsoshow that a larger neoplastic bone marrow sample is crucial to the correctdiagnosis of EL, which is based on morphological and quantitative criteria.
Full Text Available Leflunomide (LEF induced interstitial pneumonitis is a very rare condition but potentially fatal. We report a case of LEF induced interstitial pneumonitis. A 63-year-old woman followed-up for 37 years with the diagnosis of rheumatoid arthritis treated with LEF (20 mg/day since 5 months were admitted to our hospital with cough, dyspnea, fever, and dark sputum.Chest radiography represented bilateral alveolar consolidation. High-resolution computed tomography demonstrated diffuse ground-glass appearance and interlobular septal thickening. Since the patient’s clinics and radiologic findings improved dramatically after the cessation of LEF and recieving oral steriod therapy, she was diagnosed as drug-induced interstitial lung disease. In conclusion, when nonspecific clinical signs such as respiratory distress, cough and fever seen during the use of LEF, drug-induced interstitial lung disease should be kept in mind for the differantial diagnosis.
Izuchukwu Ifeoma S
Full Text Available Abstract Background Castleman's disease (CD, a rare condition of uncertain etiology, involves a massive proliferation of lymphoid tissues and typically presents as mediastinal masses. We describe a patient with CD who presented with diffuse adenopathy involving the inguinal, paratracheal, retroperitoneal, axillary, and pelvic regions. Case presentation Case report describing presentation, work-up, management and clinical course of a patient with Castleman's disease in the setting of a county hospital in metropolitan area. Patient was treated with chemotherapeutic agents. Conclusions To our knowledge, this represents the first case of CD involving an HIV-positive patient with a negative Human Herpes Virus (HHV-8 viral panel. Because patients with similar clinical histories are at high risk for the development of non-Hodgkin's lymphoma and Kaposi sarcoma, regular medical surveillance is recommended.
Damier, Philippe; Hammond, Constance; Ben-Ari, Yeheskel
Relying on recent experimental data in 2 animal models of Parkinson disease (PD), we have tested the effects of the loop diuretic bumetanide as an add-on treatment to dopaminergic drugs in 4 volunteered patients with PD using the Unified Parkinson's Disease Rating Scale. Bumetanide is a specific antagonist of the chloride importer NKCC1 (sodium/potassium/chloride cotransporter isoform 1) that ameliorates neuronal inhibition by reducing intracellular chloride levels in a variety of pathological conditions. Bumetanide is however not labeled for use in PD. We report an improvement of PD motor symptoms in the 4 patients treated with bumetanide (5 mg/d for 2 months). Bumetanide also improved gait and freezing in 2 of these patients. Our results suggest that bumetanide is well tolerated and call for double-blind, placebo-controlled, randomized trials to confirm the therapeutic efficacy of bumetanide.
Cringoli, G; Rinaldi, L; Veneziano, V; Musella, V
Disease mapping and risk assessment are important tasks in the area of medical and veterinary epidemiology. The development of methods for mapping diseases has progressed considerably in recent years. Geographical Information Systems (GIS), Remote Sensing (RS), and Spatial Analysis represent new tools for the study of epidemiology, and their application to parasitology has become more and more advanced, in particular to study the spatial and temporal patterns of diseases. The present review highlights the usefulness of GIS and RS in veterinary parasitology in order to better know the epidemiology of parasite organisms, causing either snail/arthropod borne diseases or direct transmissible diseases, mostly in small areas with a strong impact by man. It demonstrates the potential of these technologies to serve as effective tools for: data capture, mapping and analysis for the development of descriptive parasitological maps; studying the environmental features that influence the distribution of parasites; predicting parasite occurrence/seasonality based on their environmental requirements and as decision support for disease intervention; and surveillance and monitoring of animal diseases.
Full Text Available James R Palmieri,1 Scott King,1 Matthew Case,1 Arben Santo21Department of Microbiology, Infectious and Emerging Diseases, 2Department of Pathology, Edward Via College of Osteopathic Medicine, Blacksburg, VA, USAAbstract: A 50-year-old woman from Pulaski, Virginia, presented to a local clinic with headaches, fever, generalized joint pain, excessive thirst and fluid intake, and a progressing rash on her back. On physical examination, she had a large circular red rash on her back with a bull's-eye appearance, 16 × 18 cm in diameter. Serologic tests confirmed a diagnosis of Lyme disease. The patient could recall a walk through the woods 3 weeks prior, although she never noticed a tick on her body. Following a prolonged course of antibiotics, this case report presents a patient with ongoing symptoms consistent with post-treatment Lyme disease.Keywords: arthritis, chronic Lyme disease (CLD, ELISA, erythema migrans, ixodid ticks, Lyme disease, post-treatment Lyme disease syndrome (PTLDS, Western blotting
Jose Alberto Garcia Noain
Full Text Available Naxos disease is a recessive inherited condition with arrhythmogenic right ventricular dysplasia (ARVD and a peculiar cutaneous phenotype (woolly hair and a palmoplantar keratoderma. Woolly hair appears from birth, palmoplantar keratoderma develops during childhood and cardiomyopathy is clinically manifested by adolescence. Patients present with syncope, sustained ventricular tachycardia or sudden death. We report a case of a 14 year old boy from Spain, who was admitted into our emergency room after being resuscitated from cardiac arrest, secondary to malignant ventricular tachycardia that developed while he was playing basketball.
Full Text Available Dilation and hypertrophy of the atria occur in patients with valvular heart disease especially in mitral regurgitation, mitral stenosis or tricuspid abnormalities. Dilatation of the atriums which occurs slowly in time, becomes evident with ritim disturbances and embolic events. We report a case of an unusual giant right atrium in context of rheumatic mitral stenosis, mitral regurgitation, pulmonar hypertansion and severe tricuspid regurgitation in a 40-year-old man who underwent succesfull operations as mitral valve replacement, Maze-IV radiofrequency ablation, right atrium atrioplasty and De Vega anuloplasty. [J Contemp Med 2014; 4(2.000: 98-102
Cuttler, J.M. [Cuttler & Associates Inc., Vaughan, Ontario (Canada); Moore, E.R. [Dow Chemical Co., Midland, MI (United States); Hosfeld, V.D. [MidMichigan Health, Midland, MI (United States); Nadolski, D.L. [Midland Internal Medicine Associates PC, Midland, MI (United States)
Alzheimer disease (AD) primarily affects older adults. This neurodegenerative disorder is the most common cause of dementia and is a leading source of their morbidity and mortality. U.S. patient care costs are about 200 billion dollars and will more than double by 2040. This case report describes the remarkable improvement of an advanced AD patient in hospice, who received five CT scans of the brain, about 40 mGy each, over a period of three months. The mechanism appears to be radiation-induced up-regulation of the patient's adaptive protection systems against AD, which partially restored cognition, memory, speech, movement, and appetite. (author)
Edrees, Fahad; Black, Robert M; Leb, Laszlo; Rennke, Helmut
Kidney injury associated with lymphoproliferative disorders is rare, and the exact pathogenetic mechanisms behind it are still poorly understood. Glomerular involvement presenting as a nephrotic syndrome has been reported, usually secondary to membranoproliferative glomerulonephritis. We report a case of a 63-year-old male who presented with bilateral leg swelling due to nephrotic syndrome and acute kidney injury. A kidney biopsy showed minimal change disease with light chain deposition; however, no circulating light chains were present. This prompted a bone marrow biopsy, which showed chronic lymphocytic leukemia (CLL) with deposition of the same kappa monoclonal light chains. Three cycles of rituximab and methylprednisolone resulted in remission of both CLL and nephrotic syndrome, without recurrence during a three-year follow-up.
Full Text Available Abstract Castleman disease (CD is an uncommon benign lymphoproliferative disorder, which usually presents as solitary or multiple masses in the mediastinum. Peripancreatic CD was rarely reported. Herein, we report two cases of unicentric peripancreatic CD from our center. A 43-year-old man and a 58-year-old woman were detected to have a pancreatic mass in the routine medical examinations. Both of them were asymptomatic. The computed tomography and ultrasonographic examination revealed a mild enhancing solitary mass at the pancreatic head/neck. No definite preoperative diagnosis was established and Whipple operations were originally planned. The intraoperative frozen section diagnosis of both patients revealed lymphoproliferation. Then the local excisions of mass were performed. Histological examination revealed features of CD of hyaline-vascular type. No recurrence was found during the follow-up period. CD should be included in the differential diagnosis of pancreatic tumors. Local excision is a suitable surgical choice.
Scola, Rosana Herminia; Lin, Kátia; Iwamoto, Fãbio Massaiti; Arruda, Walter Oleschko; Werneck, Lineu Cesar
Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities. Previous studies of the paraspinal muscles of AS patients showed muscle fiber atrophy, and core fibers. On the other hand, central core disease (CCD) is a genetic condition that primarily involves the skeletal muscles, but can present articular deformities secondary to muscular weakness. We report the case of a 45-year-old man with clinical and radiological diagnosis of AS and proximal muscular weakness in the lower limbs. Needle electromyography showed myopathic features and nerve conduction study was normal. Muscle biopsy disclosed almost complete predominance of type-1 fibers, and fibers with central cores. This is the first report of AS and CCD. Whether central core myopathy is coincidental or a new association with AS is discussed.
Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; Ramos-Arroyo, Maria; Biunno, Ida; Bauer, Peter; Kline, Margaret; Landwehrmeyer, G Bernhard
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
Jay Prakash Gupta
Full Text Available Vector borne diseases (VBD are on the rise because of failure of the existing methods of control of vector and vector borne diseases and the climate change. A steep rise of VBDs are due to several factors like selection of insecticide resistant vector population, drug resistant parasite population and lack of effective vaccines against the VBDs. Environmental pollution, public health hazard and insecticide resistant vector population indicate that the insecticides are no longer a sustainable control method of vector and vector-borne diseases. Amongst the various alternative control strategies, symbiont based approach utilizing endosymbionts of arthropod vectors could be explored to control the vector and vector borne diseases. The endosymbiont population of arthropod vectors could be exploited in different ways viz., as a chemotherapeutic target, vaccine target for the control of vectors. Expression of molecules with antiparasitic activity by genetically transformed symbiotic bacteria of disease-transmitting arthropods may serve as a powerful approach to control certain arthropod-borne diseases. Genetic transformation of symbiotic bacteria of the arthropod vector to alter the vector’s ability to transmit pathogen is an alternative means of blocking the transmission of VBDs. In Indian scenario, where dengue, chikungunya, malaria and filariosis are prevalent, paratransgenic based approach can be used effectively. [Vet World 2012; 5(9.000: 571-576
Full Text Available CONTEXT AND OBJECTIVE: Castleman's disease, or giant lymph node hyperplasia, is a rare disorder of the lymphoid tissue that causes lymph node enlargement. It is considered benign in its localized form, but aggressive in the multicentric type. The definitive diagnosis is based on postoperative pathological findings. The aim here was to describe a case of retroperitoneal unicentric Castleman's disease in the retroperitoneum. CASE REPORT: A 61-year old white male with weight loss and listlessness presented with moderate arterial hypertension and leukopenia. Abdominal tomography revealed a 5 x 4 x 5 cm oval mass of low attenuation, with inner calcification and intense enhancement on intravenous contrast, located in the retroperitoneal region, between the left kidney and the aorta, at the renal hilus. Exploratory laparotomy revealed a non-pulsatile solid oval mass situated in the retroperitoneum, adjacent to the left renal hilus. The retroperitoneal lesion was removed in its entirety. Examination of frozen samples revealed benign lymph node tissue and histopathological examination of the surgical sample revealed hyaline-vascular giant lymph node hyperplasia (Castleman's disease. The patient was discharged on the 12th day without significant events. Two months after the operation, the patient was readmitted with severe cardiac insufficiency, acute renal failure and bronchopneumonia, which progressed to acute respiratory insufficiency, sepsis and death.
Sevcan Karakoç Demirkaya
Full Text Available Various psychiatric symptoms/signs have been identified since the identification of Wilson’s disease (WD. Every patient with WD suffers from one or more psychiatric problems (organic dementia, psychosis, and impulsivity across the disease course. Sometimes, insidious symptoms, such as behavioral changes, failure in school performance, and disturbances in hand-eye coordination may be seen before the onset of neurologic presentation. In this report, five patients, who were diagnosed with WD and followed up in the Child Neurology Unit, were assessed by a Diagnostic and Statistical Manual of Mental Disorders-4-based semistructured psychiatric interview (Schedule for Affective Disorders and Schizophrenia for School-Age Children. All patients had psychiatric symptoms. One patient had a history of a manic episode and the other had a history of a psychotic disorder at the initial stage of WD. Psychiatric symptoms coexist mostly with neurologic signs in patients with WD. In this sense, pediatric neurological consultation and copper screening are lifesaving in excluding organic etiology. However, WD is a lifelong treatment-requiring disease and psychiatric evaluation of the patients is essential.
Full Text Available Hussain Issa1, Sami Al-Momen1, Bahaa Bseiso1, Ghada Ali Al-Janobi1, Mohamad Al-Jama1, Fadel Ali Almousa1, Mahdi E Al-Jarodi1, Ahmed H Al-Salem21Department of Internal Medicine, King Fahad Specialist Hospital, Dammam, Saudi Arabia; 2Department of Pediatric Surgery, Maternity and Children Hospital, Dammam, Saudi ArabiaAbstract: Thromboembolism (TE is a serious but under-recognized complication of inflammatory bowel disease (IBD. This is specially so in developing countries where the incidence of IBD is low. In Saudi Arabia, IBD is considered to be rare, but the incidence is increasing. Where the clinical manifestations resemble those of developed countries, TE as a complication of IBD is considered to be very rare. This report describes six IBD patients with TE. This importance of the complication of TE is stressed, and physicians caring for these patients should be aware of it in order to obviate potential morbidity and mortality.Keywords: thromboembolism, inflammatory bowel disease, Crohn's disease, ulcerative colitis
Nataly Pimentel Rodrigues
Full Text Available Objectives Unipolar depression (UPD is a leading cause of global burden of diseases, particularly among the elderly, whose treatment may be challenging. In such cases, ECT is often recommended due to its safety and efficacy. This report presents a case of a 67-year-old male inpatient that developed a rare cardiac complication during ECT. Methods Clinical case report with patient’s consent and bibliographic review. Results A 67-year-old male inpatient with recurrent severe psychotic depression was hospitalized and ECT was indicated after failure of the pharmacological treatment. A comprehensive clinical pre-evaluation revealed only nonspecific ST-segment changes in electrocardiogram. During the 7th ECT session, it was observed transitory ST-segment depression followed by a discrete increase of plasma troponin I. Severe tri-vessel coronary artery stenosis was found and a percutaneous coronary angioplasty was performed, with satisfactory psychiatric and cardiac outcomes. Conclusions Unipolar depression (UPD and cardiovascular disease are often coexistent conditions, especially among the elderly. In the current case, myocardial ischemia was detected lately during ECT therapy and its treatment allowed the UPD treatment to be completed adequately.
Full Text Available Purpose: To report a case of a 20-year-old female with decreased visual acuity (VA in the left eye (LE. Methods: This is a retrospective and descriptive case report based on data from clinical records, patient observation and analysis of diagnostic tests. Results: A 20-year-old female presented with decreased VA in the LE for 3 days. Best-corrected visual acuity (BCVA was 20/20 in the right eye (RE and 20/40 in the LE. Pupillary function, intraocular pressure, results of external segment examinations and slit-lamp biomicroscopy were normal, bilaterally. RE fundoscopy was normal, and in the LE it revealed papillitis and posterior pole exudative retinal detachment. Optical coherence tomography (OCT confirmed the macular serous retinal detachment and showed thickening of the posterior choroid also revealed by orbital ultrasound and magnetic resonance imaging (MRI. Fluorescein angiography showed angiographic features typical of Vogt-Koyanagi-Harada (VKH disease: disseminated spotted choroidal hyperfluorescence and choroidal multifocal hypofluorescence, multifocal profuse leakage in the retina with pooling, serous retinal detachment and optic disc hyperfluorescence. Serological testing for the diagnosis of infectious pathologies was negative, and the review of systems was normal. The patient received systemic steroids and cyclosporine. LE BCVA improved up to 20/20 at 18 months after the diagnosis, with complete reabsorption of subretinal fluid and normal retinal and choroidal thickness by OCT. Conclusion: Despite the unilateral involvement, the clinical and angiographic features were typical of VKH disease, and ophthalmologists should be aware to recognize this rare clinical variant of the disease.
Full Text Available Abstract Undifferentiated connective tissue diseases (UCTDs are clinical entities characterised by signs and symptoms suggestive of a systemic autoimmune disease, which do not fulfil the diagnostic criteria for a defined connective tissue disease. Lung involvement can complicate the course and management of the disease, often determining a worse outcome. Respiratory dysfunction as the first clinical manifestation has seldom been reported. We describe a case of a female patient who developed significant respiratory dysfunction as the principal clinical sign. Video-assisted thoracoscopy was performed and a histological pattern of nonspecific interstitial pneumonia (NSIP was found. A pathological diagnosis suggested careful follow-up with extensive immunological screening which then detected Raynaud's phenomenon and positivity of antinuclear antibodies. After a multidisciplinary discussion (pneumologist, radiologist, pathologist and rheumatologist a final diagnosis of NSIP associated with UCTD was made. The diagnosis of UCTD should be considered when NSIP is diagnosed even in cases with evident first clinical manifestations of severe respiratory dysfunction. A multidisciplinary approach in the field of interstitial lung disease with NSIP, also including rheumatologic expertise, is fundamental to achieve a prompt and correct diagnosis.
Hasserius, Johan; Hedbys, Josefine
Purpose. Congenital heart disease (CHD) is reported to be associated with Hirschsprung disease (HD). The aim was to evaluate any differences between children with HD with and without CHD, respectively, with regard to patient characteristics, medical care, and patient reported bowel function. Method. This is a retrospective chart study and a cross-sectional long-term follow-up of patients older than 4 years old, including all children with HD operated on with transanal endorectal pull-through (TERPT) at a tertiary center of pediatric surgery. Information about patient characteristics, diagnostics, surgery, and medical care was compiled. At long-term follow-up, bowel function was assessed by Bowel Function Score. Results. Included were 53 HD-patients, 13 with CHD and 40 without CHD. Children with CHD more commonly presented with failure to thrive; 4 (23%) compared to those without CHD (0%) (p < 0.01). In the long-term follow-up, including 32 patients (6 with CHD), constipation was more commonly reported by children with CHD 5 (83%) than by children without CHD 4 (27%) (p = 0.01). No differences were shown in the other parameters such as fecal control and incontinence. Conclusion. HD-patients with CHD more commonly presented with failure to thrive and more frequently reported constipation than HD-patients without CHD. The findings indicate that HD-patients with CHD might need special consideration in their initial care and long-term follow-up.
Weber, David J.; Poole, Charles; MacDonald, Pia D.M.; Maillard, Jean-Marie
Despite widespread use of communicable disease surveillance data to inform public health intervention and control measures, the reporting completeness of the notifiable disease surveillance system remains incompletely assessed. Therefore, we conducted a comprehensive study of reporting completeness with an analysis of 53 diseases reported by 8 health care systems across North Carolina, USA, during 1995–1997 and 2000–2006. All patients who were assigned an International Classification of Diseases, 9th Revision, Clinical Modification, diagnosis code for a state-required reportable communicable disease were matched to surveillance records. We used logistic regression techniques to estimate reporting completeness by disease, year, and health care system. The completeness of reporting varied among the health care systems from 2% to 30% and improved over time. Disease-specific reporting completeness proportions ranged from 0% to 82%, but were generally low even for diseases with great public health importance and opportunity for interventions. PMID:21192850
Pinto, José Antonio; Corso, Renato José; Guilherme, Ana Cláudia Rocha; Pinho, Sílvia Rebelo; Nóbrega, Monica de Oliveira
Dysprosody also known as pseudo-foreign dialect, is the rarest neurological speech disorder. It is characterized by alterations in intensity, in the timing of utterance segments, and in rhythm, cadency, and intonation of words. The terms refers to changes as to duration, fundamental frequency, and intensity of tonic and atonic syllables of the sentences spoken, which deprive an individual's particular speech of its characteristics. The cause of this disease is usually associated with neurological pathologies such as brain vascular accidents, cranioencephalic traumatisms, and brain tumors. The authors report a case of dysprosody attended to at the Núcleo de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço de São Paulo (NOSP). It is about a female patient with bilateral III degree Reinke's edema and normal neurological examinations that started presenting characteristics of the German dialect following a larynx microsurgery.
Seong, Su Ok; Jeon, Woo Ki [Inje Univ. College of Medicine, Seoul (Korea, Republic of)
Endometrial carcinoma usually occurs in postmenopausal women ; less than 5% occurs in women under the age of 40. Up to one quarter of endometrial carcinoma patients below this age have PCO(polycystic ovary disease, Stein-Leventhal syndrome). The increased incidence of endometrial carcinoma in patients with PCO is related to chronic estrogenic stimulation. We report MR imaging in one case of endometrial carcinoma occuring in a 23 year old woman with PCO and had complained of hypermenorrhea for about three years. On T2-weighted MR image the endometrial cavity was seen to be distended with protruded endometrial masses of intermediate signal intensity, and the junctional zone was disrupted beneath the masses. Both ovaries were best seen on T2-weighted MR imaging and showed multiple small peripheral cysts and low signal-intensity central stroma.
Cheptou, M; Pichault, V; Campagni, R; Vodoff, M-V; Fischbach, M; Paillard, C
Pediatric nephrotic syndrome (NS) is most often idiopathic or primary but in rare cases, it can be secondary to neoplasia. We report on a case of steroid-resistant NS revealing as a paraneoplastic syndrome of Hodgkin disease (HD) in a 12-year-old boy. The onset of the NS can be earlier, later, or simultaneous to the HD. Treatment of the lymphoma allows the disappearance of the NS. In the case we observed, the diagnosis of HD was delayed because HD presented with an isolated, hilar adenopathy in the absence of retroperitoneal or peripheral locations. In children aged 10 years or more presenting with NS, steroid-resistant or otherwise, a possible paraneoplastic origin such as Hodgkin lymphoma should always be taken into consideration and eventually eliminated.
Full Text Available Acute traumatic ulcerations and granulomas of the oral mucosa may result from physical damage via sharp foodstuffs, accidental biting, or talking. Most ulcerations heal within days. Others become chronic, reactive, and exophytic. A histopathologically unique type of chronic traumatic ulceration is the traumatic ulcerative granuloma with stromal eosinophilia (TUGSE. TUGSE exhibits a deep "pseudoinvasive" inflammatory reaction. This lesion may occur under the tongue in infants as a result of chronic mucosal trauma caused by mandibular anterior primary teeth during nursing and is termed Riga-Fede disease (RFD. The clinical presentation many resemble squamous cell carcinoma causing concern. RFD, although not uncommon, is not frequently reported. Thus, dental practitioners are unfamiliar with such lesions. We present a large Riga-Fede lesion in an infant along with the clinical management.
Roggeman, Stijn; Buyck, Griet; Petrovic, Mirko; Callens, Steven; Van Braeckel, Eva
We describe a case report of a student of Asian origin who presented with fever of unknown origin, cough, recent onset low back pain and weight loss. Initial physical examination was unremarkable. Laboratory results showed inflammation, but extensive testing for bacteriological and viral serology was negative. While the chest Computed Tomography (CT) scan did not show any abnormal findings, pelvic CT scan revealed an osteolytic sacral mass, with extension to the soft tissues and muscles, and concomitant nerve compression. An ultrasonography-guided puncture of the lesion eventually showed Mycobacterium tuberculosis, leading to the diagnosis of tuberculous spondylitis or Pott's disease. The standard tuberculostatic treatment was applied during 9 months with a good clinical result. Skeletal tuberculosis is not common in Western countries and it can be overlooked in foreign patients with fever of unknown origin.
Park, Sang Hyun; Kim, Young Hwa; Kim, Doo Sang; Shin, Hyung Chul; Bae, Won Kyung; Kim, Il Young [Soonchunhyang University, Chunan (Korea, Republic of); Kim, Hyun Cheol [Kyung-Hee University, Seoul (Korea, Republic of)
Mondor's disease is commonly known as thrombophlebitis of the superficial vein in the breast, and this disease occurs rarely in the penis. Despite extensive information about the clinical presentation and course of this disease, imaging findings for this disease are limited. We report gray scale and power Doppler sonographic findings of penile Mondor's disease.
Full Text Available Introduction. The presence of bilateral exophthalmos and palpebral, periorbital edema associated with hyperthyroidism is most often considered as an initial sign of Graves’ ophthalmopathy. However, in up to 20% of cases, Graves’ ophthalmopathy might precede the occurrence of hyperthyroidism, which is very important to be considered in the differential diagnosis, especially if it is stated as unilateral. Among other less common causes of non-thyroid-related orbitopathy, orbital lymphoma represents rare conditions. We presented of a patient with Graves’ disease, initially manifested as bilateral orbitopathy and progressive unilateral exophthalmos caused by the marginal zone B-cell non-Hodgkin lymphoma of the orbit. Case report. A 64-yearold man with the 3-year history of bilateral Graves’ orbitopathy and hyperthyroidism underwent the left orbital decompression surgery due to the predominantly left, unilateral worsening of exophthalmos resistant to the previously applied glucocorticoid therapy. A year after the surgical treatment, a substantial exophthalmos of the left eye was again observed, signifying that other non-thyroid pathology could be involved. Orbital ultrasound was suggestive of primary orbital lymphoma, what was confirmed by orbital CT scan and the biopsy of the tumor tissue. Detailed examinations indicated that the marginal zone B-cell non-Hodgkin lymphoma extended to IV - B-b CS, IPI 3 (bone marrow infiltration: m+ orbit+. Upon the completion of the polychemiotherapy and the radiation treatment, a complete remission of the disease was achieved. Conclusion. Even when elements clearly indicate the presence of thyroid-related ophthalmopathy, disease deteriorating should raise a suspicion and always lead to imaging procedures to exclude malignancy.
Siqueira, V.L.; Soares, L.M.M.; Ribeiro, V.P.B.; Coura Filho, G.B.; Sapienza, M.T.; Ono, C.R.; Watanabe, T.; Costa, P.L.A.; Hironaka, F.; Buchpiguel, C.A. [Universidade de Sao Paulo (FM/USP), SP (Brazil). Fac. de Medicina. Hospital das Clinicas
Full text: Introduction: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis, of unknown etiology, characterized by infiltration of foamy histiocytes. Clinically, patients usually present with bone pain, and various extraskeletal manifestations. ECD differs from Langerhans cell histiocytosis (LCH) by radiologic and immunohistochemistry features. Case report: A 57-year-old woman presented with a history of intense pain on her left hand, besides eyelid xanthelasmas and xanthoms on frontal area ten years ago. Four years late she presented with pain on hips, legs and feet. Xanthoms spread to perioral area, mento and neck. Radiographs of the hands showed osteolysis of carpal bones bilaterally, osteolysis of fifth left metacarpal bone, osteosclerosis of all metacarpal bones bilaterally, except the fifth, and osteosclerosis of the second and third proximal falanges bilaterally. The legs showed bilateral diaphyseal and metaphyseal osteosclerosis. Bone scintigraphy demonstrated increased uptake on face bone (maxilla), and symmetric intense uptake on elbows, distal radii and ulnae, hands, distal area of femurs, tibias particularly on proximal and distal area, and feet. A tibia biopsy and a biopsy of neck lesion were made. The analysis of histology and immunohistochemistry were consistent with ECD. She has been treated with a-interferon for 1,5 year, and she reports delay in xanthoms progression and bone pain remission. Discussion: ECD is an adult multisystemic xanthogranulomatous infiltrative disease of unknown etiology. It may be confused with LCH, however ECD have distinctive immunohistochemistry and radiologic findings. LCH shows typically lytic bone lesions on axial skeleton, whereas symmetrical long-bone osteosclerosis is the radiologic sign for ECD. LCH stain positive for CD1a and S-100 protein, and the electron microscopy of cytoplasm discloses Biberck granules. ECD stain positive for CD68, negative for CD1a and S-100 protein, shows absent of
Breard, Emmanuel; Belbis, Guillaume; Viarouge, Cyril; Riou, Mickael; Desprat, Alexandra; Moreau, Joël; Laloy, Eve; Martin, Guillaume; Sarradin, Pierre; Vitour, Damien; Batten, Carrie; Doceul, Virginie; Sailleau, Corinne; Zientara, Stéphan
Epizootic hemorrhagic disease virus (EHDV), an arthropod-borne orbivirus (family Reoviridae), is an emerging pathogen of wild and domestic ruminants closely related to bluetongue virus (BTV). EHDV serotype 6 (EHDV6) has recently caused outbreaks close to Europe in Turkey and Morocco and a recent experimental study performed on calves inoculated with these two EHDV6 strains showed that the young animals have remained clinically unaffected. The aim of this study was to investigate the pathogenicity of an EHDV6 strain from La Reunion Island in adult Holstein (18-month-old heifers). This EHDV6 strain has induced clinical signs in cattle in the field. Samples taken throughout the study were tested with commercially available ELISA and real-time RT-PCR kits. Very mild clinical manifestations were observed in cattle during the experiment although high levels of viral RNA and virus were found in their blood. EHDV was isolated from the blood of infected animals at 8 dpi. Antibodies against EHDV were first detected by 7 dpi and persisted up to the end of the study. Virus was detected in various tissue samples until 35 dpi, but was not infectious. In view of the recent circulation of different arboviruses in Europe, this study demonstrates what the EHD induces a strong viraemia in adult Holstein cattle and shows that a spread of EHD on European livestock cattle is possible. Copyright © 2013 Elsevier Ltd. All rights reserved.
Full Text Available The most common organ involved in hydatid disease is the liver, followed by the lungs. Hydatid disease of spleen is a rare clinical condition, as even in the endemic region the frequency is reported to be 0.5 – 4% of abdominal hydatid diseases. Most commonly splenic involvement is secondary i.e., along with other organs. Primary hydatid diseases in s pleen is rare, here we are reporting a rare case of primary splenic hydatid disease
Full Text Available Background: Communicable disease reporting and surveillance system has poor infrastructure and supporters in most of countries. Its quality improvement is a challenge and requires an accurate and efficient care and reporting systems at all levels to achieve new and simple models. This study evaluates reporting systems of communicable diseases using systematic review.Methods: This was a systematic review study. For data collection, we used the following database and search engines: Proquest, Science direct, Pub MED, Scopes, Springer, and EBESCO. For Persian databases, we used SID, Iranmedex and Magiran. Our key words were "Communicable Diseases", "Notifiable Disease", "Disease Notification", "Reporting System"," Surveillance Systems" and "evaluation". Two independent researchers reviewed the resources and the results were classified in different domains.Results: From 1889 cases, only 66 resources were studied. The results were classified in several domains, including those who were reporting, reporting methods and procedures, responsibilities and reporting system characteristics, problems and solutions of the report, the reporting process, and receptor level.Conclusion: Disease-reporting system has similar problems in all parts of the world. Change, improve, update and continuous monitoring of the reporting system are very important. Although the reporting process can vary in different regions, but being perfect and timely are important principles in system design. Detailed explanations of tasks and providing appropriate instructions are the most important points to integrate an efficient reporting system. Keywords: Reporting, Diseases surveillance system, Disease control
Cai, Qianyun; Luo, Rong; Gan, Jing; Zhang, Li; Qu, Yi; Mu, Dezhi
Parapharyngeal abscess (PPA)-like lesion is a very rare manifestation of Kawasaki disease (KD). Here we report a Chinese case of KD initially mimicking PPA, which is the first one reported in Asia.A 3-year-old male patient presented with fever, drooling, and bilateral painful cervical lymphadenopathy for 3 days. Chest X-ray and echocardiogram were normal. With substantial elevation of white blood count and C-reactive protein, purulent cervical lymphadenitis was considered. Symptoms did not improve after treatment with vancomycin, and the patient further developed trismus and restricted neck movement. Neck CT revealed a 2 × 1.5 cm hypodense lesion in the right parapharyngeal space with peripheral enhancement. PPA was suspected and on the 3rd day following admission, the patient received surgical incision and drainage. One milliliter of serous fluid was drained without bacterial growth on cultures. Fever persisted after surgery. As the clinical course proceeded, additional major signs of KD gradually evolved, and on the 6th day following admission the patient completely fulfilled the diagnostic criteria for KD. Rapid clinical improvement was observed following treatment with high-dose immunoglobulin and aspirin. Due to the parapharyngeal operation, the patient was fed milk through a nasogastric tube for 15 days. His neck incision became infected but healed gradually following dressing change and antibiotic treatment. Currently he remains asymptomatic during regular follow-up and repeated echocardiograms are normal.Both pediatricians and otolaryngologists can learn from this case that KD may initially manifest as PPA. Careful observation for major signs of KD during the clinical course can help to achieve a prompt and correct diagnosis. Thus, unnecessary surgery and cardiac complications of KD may be avoided.
Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original...
Hotez, Peter J; Fujiwara, Ricardo T
Today, the nation of Brazil leads the Western Hemisphere in terms of the number of its citizens living with neglected tropical diseases (NTDs). These diseases continue to trap Brazil's "bottom 20 million" in extreme poverty.
Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.
Rusina, R; Keller, O; Síma, R; Zámečník, J
Whipples disease is a chronic multisystem inflammatory disease with predominantly gastrointestinal manifestations due to Tropheryma whipplei infection. Typical neurological abnormalities include dementia, eye movement abnormalities, hypothalamic dysfunction and oculomasticatory myorhythmias. The literature on peripheral neuropathy in Whipples disease is sparse and the involvement of peripheral nerves in Whipples disease has not been documented convincingly so far. We present a case of Whipples disease presenting by axonal peripheral neuropathy without gastrointestinal involvement. The diagnosis was confirmed by a sural nerve biopsy and consequent PCR of the sample. All clinical signs disappeared progressively during the antibiotic therapy. Two years after the T. whipplei infection, the patient developed dopa-sensitive Parkinson's disease, although these two events seem to be unrelated. This case illustrates the value of peripheral nerve biopsy in cases of axonal neuropathy of unexplained origin and extends the clinical spectrum of Whipples disease to a new modality.
Napoli, Marcello; Montinaro, A M; D'Ambrosio, E; Di Renzo, N; Ambrosino, C; Lefons, M; Pati, C; Sozzo, E
The bilateral primary renal lymphoma (PRL) is a rare disease with a high mortality rate (75% within the first year). We report the case of a fifty-three years old women observed in January 2011 for renal colic. Ultrasonography showed hypoechoic lobular formations in the kidney. Blood tests showed: creatinine 1.8 mg/dl, urea 75 mg/dl , Creatinine Clerance 35 ml/m, hemoglobinemia 11 g/dl, with blood cells 8.500/mcL, Albumin 2.8 g/dl, Beta -2 micro - 27.3/mL. Proteinuria was 0.3 g/24 hours. The CT scan showed kidneys with larger dimensions and multiple hypodense areas infiltrating the renal parenchyma with contrast-enhanced low in which kidneys had lesions similar to "leopard skin". The CT scan showed no enlarged lymph nodes. Renal biopsy showed: renal parenchyma largely occupied by infiltration of lymphoid elements, small and medium-sized, densely packed with compression of the tubular structures . Immunofluorescence for immunoglobulin (Ig) G, IgA, IgM, C3, C4, C1q, fibrinogen, kappa and lambda were negative. The bone marrow biopsy excluded lymphomatous infiltration. The histological diagnosis was "non-Hodgkin's B-cell lymphoma"; the clinical diagnosis was LRBP. The patient was treated by 6 cycles of R-CHOP-21 protocol (rituximab - endoxan, adriblastina , vincristine, prendnisone), the latter of which practiced in August 2011. The pt is currently in follow-up hematology and nephrology . The first TAC control , in October 2011, showed a complete regression of the lesions infiltrating . This finding was confirmed by two other CT scan performed in February and October 2012. The last blood tests of February 2013 showed : creatinine 1.1 mg / dl , Urea 40 mg/dl, proteinuria absent. Currently, the pt is asymptomatic and is being treated by low dose of ACE inhibitor. The bilateral PRL is considered a severe disease with one-year mortality of 75% . The successful outcome of the case described can be attributed to haematological therapy and to the early diagnosis.
Conclusion: The occurrence of two different congenital and acquired ocular diseases is rare. This is the first simultaneous presentation of Duane syndrome and Coats' disease ever to be reported in a young patient.
This thesis describes that RNA silencing suppressor (RSS) proteins encoded by negative-stranded RNA plant viruses are able to interfere with different RNA silencing pathways in a variety of organisms by interacting with double stranded (ds)RNA molecules. These RSS proteins are able to counteract the
This thesis describes that RNA silencing suppressor (RSS) proteins encoded by negative-stranded RNA plant viruses are able to interfere with different RNA silencing pathways in a variety of organisms by interacting with double stranded (ds)RNA molecules. These RSS proteins are able to counteract the
Hasnain, Wirasat; Stillman, Isaac E.; Bayliss, George P.
Objective To describe a possible association between Graves' disease and nephrotic syndrome secondary to minimal change renal disease and to review the literature related to renal diseases in patients with Graves' disease. Methods The clinical, laboratory, and renal biopsy findings in a patient with Graves' disease and minimal change renal disease are discussed. In addition, the pertinent English-language literature published from 1966 to 2009, determined by means of a MEDLINE search, is revi...
Hasnain, Wirasat; Stillman, Isaac E.; Bayliss, George P.
Objective: To describe a possible association between Graves' disease and nephrotic syndrome secondary to minimal change renal disease and to review the literature related to renal diseases in patients with Graves' disease. Methods: The clinical, laboratory, and renal biopsy findings in a patient with Graves' disease and minimal change renal disease are discussed. In addition, the pertinent English-language literature published from 1966 to 2009, determined by means of a MEDLINE search, is re...
Atesalp, A. Sabri; Demiralp, Bahtiyar; Erler, Kaan; Gur, Ethem
Haglund’s disease is the posterior heel pain resulted from the retrocalceneal bursitis and chronic inflammation on the prominence of posterior calcaneus. It becomes prominent following excessive functional stresses. Surgery is an alternative choice of treatment. In the paper, we present the result of surgical procedure of 25 year old male with bilateral Haglund’s disease and surgical treatment principles of Haglund’s disease.
Full Text Available Caroli’s disease is autosomal recessive, non-obstructive dilatation of intrahepatic biliary ducts. The exact etiology is unclear. Two variants of Caroli’s disease are well known-simple; in which bile ducts are dilated without hepatic fibrosis and the second type which is associated with congenital hepatic fibrosis along with its sequelae, also known as Caroli’s syndrome. Simple Caroli’s disease without hepatic fibrosis is quite rare. The importance of recognizing this disease as a cause of biliary stasis is its frequent association with lithiasis, recurrent cholangitis, liver abscesses, cirrhosis and cholangiocarcinoma.
Kim, Hyun Soo; Kang, Won Kyung; Chung, Dong Jin [Yeouido St. Mary' s Hospital, The Catholic University of Korea, Seoul (Korea, Republic of)
Immunoglobulin G4 (IgG4)-related disease is an autoimmune disease that forms tumorous lesions. Several cases involving various organs are reported, however, IgG4-related disease involving appendix has not been reported yet. In this report, we presented a case of IgG4-related disease of appendix, which raised a suspicion of appendiceal tumor or usual appendicitis and, therefore, led to unnecessary surgical resection. IgG4-related disease should be considered in the differential diagnosis for a mass-like swelling of the appendix, in order to avoid unnecessary surgery.
van der Have, Mike; Fidder, Herma H; Leenders, Max; Kaptein, Ad A; van der Valk, Mirthe E; van Bodegraven, Ad A; Dijkstra, Gerard; de Jong, Dirk J; Pierik, Marieke; Ponsioen, Cyriel Y; van der Meulen-de Jong, Andrea E; van der Woude, C Janneke; van de Meeberg, Paul C; Romberg-Camps, Mariëlle J L; Clemens, Cees H M; Jansen, Jeroen M; Mahmmod, Nofel; Bolwerk, Clemens J M; Vermeijden, J Reinoud; Siersema, Peter D; Oldenburg, Bas
The inflammatory bowel disease (IBD) disability index has recently been introduced to measure patients' physical, psychological, familial, and social limitations associated with IBD. We assessed factors related to self-reported disability and the relationship between disability and direct health care costs. A large cohort of patients with Crohn's disease (CD) and ulcerative colitis (UC) was prospectively followed for 2 years by 3 monthly web-based questionnaires. At 2 years, patients completed the IBD disability index, with lower score indicating more disability. Linear regression analysis was used to examine the impact of demographics, clinical characteristics, and illness perceptions on self-reported disability. Trends in direct health care costs across the disability severity groups minimal, mild, moderate, and severe, were tested. A total of 554 patients with CD and 424 patients with UC completed the IBD disability index (response rate, 45%). Both clinical characteristics and illness perceptions significantly contributed to self-reported disability (45%-47%, P = 0.000 and 8%-12%, P = 0.000, respectively). Patients with CD scored lower on the self-reported IBD disability index than patients with UC (0.255 versus 3.890, P disease activity, illness identity (higher number of symptoms attributed to IBD), and stronger emotional response. Disease duration and disease phenotype were not associated with self-reported disability. Direct health care costs increased with the worsening of self-reported disability (P = 0.000). More disability was reported by patients with CD than by UC. Self-reported disability in IBD was mainly determined by clinical disease activity and illness perceptions but not by disease duration or disease phenotype.
Lok, Ka-Ho; Hung, Hiu-Gong; Yip, Wai-Man; Li, Kin-Kong; Li, Kam-Fu; Szeto, Ming-Leung
A 43-year-old Chinese patient with a history of psoriasis developed fulminant ulcerative colitis after immunosuppressive therapy for steroid-resistant minimal change disease was stopped. Minimal change disease in association with inflammatory bowel disease is a rare condition. We here report a case showing an association between ulcerative colitis, minimal change disease, and psoriasis. The possible pathological link between 3 diseases is discussed.
Lok, Ka-Ho; Hung, Hiu-Gong; Yip, Wai-Man; Li, Kin-Kong; Li, Kam-Fu; Szeto, Ming-Leung
A 43-year-old Chinese patient with a history of psoriasis developed fulminant ulcerative colitis after immunosuppressive therapy for steroid-resistant minimal change disease was stopped. Minimal change disease in association with inflammatory bowel disease is a rare condition. We here report a case showing an association between ulcerative colitis, minimal change disease, and psoriasis. The possible pathological link between 3 diseases is discussed.
A 43-year-old Chinese patient with a history of psoriasis developed fulminant ulcerative colitis after immunosuppressive therapy for steroid-resistant minimal change disease was stopped. Minimal change disease in association with inflammatory bowel disease is a rare condition. We here report a case showing an association between ulcerative colitis, minimal change disease,and psoriasis. The possible pathological link between 3 diseases is discussed.
Khan, M K; Talukder, R H; Kamruzzaman, M
Castleman's disease is a rare primary disease of the lymph nodes. Little is known about the management of the disease. Surgical treatment gives a very good result. What other modalities of treatment could be done is not yet established. The role of surgery gives good result and follow up evaluation is satisfactory. We found a solitary intra-abdominal mass of lymphoid hyperplasia with a histological diagnosis of Castlemans disease identified in the pathological data base. Unicentric disease was defined as it was a solitary mass. Clinical, Radiological and Laboratory data were analysed to evaluate treatment response. The patient also has related disorders as Acanthosis nigricans, Myoneuronal disorder as-MG and bronchiolitis. The patient diagnosed as angiofollicular hyperplasia (Castleman's disease). After evaluation patient under went surgical treatment, partial excision of tumor mass due to morbid adhesion with inferior vena cava. The patient becomes symptom free and lump disappears within 60 days of treatment. There was no recurrence of the disease after further evaluation. The author recommends that in Unicentric variant of Castlemans disease surgical resection of the tumor is curative. The unicentric tumour may be hyaline-vascular or hyaline-vascular/ plasma cell type. Partial resection, Radiotherapy or observation alone may avoid excessive aggressive therapy.
Cummiskey, J; Borrione, P; Bachil, N; Ergen, E; Pigozzi, F
A European Youth Olympic Sports Festival (EYOF), in Jaca, Northern Aragon, Spain, involving 1500 athletes, from 43 countries was held in January for 7 days. The event was marred by a case of type B Neisseria meningitidis. The usual care of the patient was performed in a local hospital. He eventually made a full recovery. The case was reported to the Local Health Authority and the National Public Health authority of the patient's country. Their advice was to treat the core case, give prophylactic therapy to the inner circle (28 athletes and officials) and surveillance of the other close contacts (84 total) with temperature and symptom review daily. They advised against further information being given to the rest of the athletes and officials, in case it might give rise to a panic situation. The dilemma of the responsible physicians was that 1500 athletes were traveling back to 43 countries within the incubation period of the bacterial meningitis. It was decided that informing each country was appropriate. This was done at the event by informing the Chef of the Missions and writing to the Secretary Generals of each National Olympic Committee attending. This was the first serious contagious disease at a major sporting event. The way in which the wider dispersing attendees were informed at the event should form the basis of management at sporting events in the likelihood of a serious communicable disease.
Turan, Arzu Akcay; Karayel, Ferah; Akyildiz, Elif U; Ozdes, Taskin; Yilmaz, Eyyup; Pakis, Isil
Eosinophils are associated with various disorders, such as allergic or hypersensitivity reactions, parasitic diseases, connective tissue diseases, certain neoplastic diseases (Hodgkin's disease, lymphomas, and carcinomas), and various immune deficiency states. Eosinophils can infiltrate any tissue and can cause tissue damage. Heart, has been demonstrated to be the most extensively involved and toxicity of eosinophils is well-established on cardiac tissue. We describe 3 cases with extensive eosinophilic infiltration without endomyocardial fibrosis. All patients died after a short clinical course with rapidly progressive heart failure. Bronchial asthma, hydatid disease and drug reaction were considered as possible etiologies of eosinophilia in case 1 and case 2. Case 3 was considered to fall into the "idiopathic hypereosinophilic syndrome" in which no underlying causes for eosinophilia could be identified.
Dietrich, Thomas; Stosch, Ulrike; Dietrich, Dieter; Schamberger, Daniela; Bernimoulin, Jean-Pierre; Joshipura, Kaumudi
The objective of this study was to evaluate the validity of self-reported periodontal disease and symptoms to predict periodontal disease history in a German population. We analysed data from 246 patients who answered a self-administered questionnaire on self-perceived periodontal disease and self-reported symptoms of periodontal disease. Actual periodontal status was assessed from panoramic radiographs and periodontal disease was defined as > or = 3 teeth with radiographic alveolar bone loss (ABL) > 5 mm (prevalence 39%). Sensitivity (SN) and specificity (SP) of self-reported items for diagnosis of periodontal disease history were calculated. The diagnostic accuracy of any individual item was generally low. For example, self-perceived periodontal disease had SN of 49% and SP of 67%. All self-reported items had low sensitivity, while self-reported professionally diagnosed bone loss, tooth loss caused by periodontal disease and mobility had SP > 90%. In conclusion, we did not identify a single individual question that can assess periodontal disease from self-reporting with satisfactory validity. Future studies will evaluate whether multivariate prediction rules using information from several self-reported variables are a valid means to ascertain periodontal disease history.
Full Text Available Amyotrophic lateral sclerosis, also known as Charcot’s disease and motor neuron disease, is a progressive neurodegenerative disease that causes muscle weakness, paralysis, and ultimately, respiratory failure. The aetiology and the pathogenesis of the syndrome remain unknown. Most people live 2–5 years after their first signs of the disease. There is no cure or effective treatment. We present a case of a female patient affected by progressing Charcot’s disease. On the Amyotrophic Lateral Sclerosis Functional Rating Scale – Revised (ALSFRS-R, the patient obtained 21 points. Atrophy and muscle spasm were very extended. Electromyography revealed features of coexisting denervation and reinnervation in the examined muscles. A growing number of Charcot’s disease cases require multidirectional actions to meet patient’s physical, emotional, and nutritional needs. Amyotrophic lateral sclerosis is an incurable disease. However, it is possible to relieve its symptoms by applying systematic physical rehabilitation.
Chronic adrenal insufficiency, known as Addison's disease, presents with a constellation of symptoms and signs. The neuropsychiatric aspect of this condition is not fully understood and not much has been documented about it in the English literature. This article presents a case of a 41-year old male patient who presented initially with depression after a recent life stressor. After his condition escalated and therapy continued to fail, the medical team revised its diagnosis to Addison's disease. Neuropsychiatric symptoms could be the first presentation of Addison's disease, and thus should be kept in mind whenever such a case presents to the physician.
Full Text Available Hirayama disease also known as monomelic amyotrophy, primarily involves distal upper limb extremities. It differs from the known types of motor neuron diseases because of its nonprogressive behavior and pathologic findings of focal ischemic changes in the anterior horn of the lower cervical cord. We present a young male with Hirayama disease who had a left upper extremity involvement which was progressive in nature. He didn't respond with initial treatment of cervical collar. Consequently surgical intervention improves muscle weakness and decrease the neurological deficit. [Int J Res Med Sci 2014; 2(3.000: 1232-1235
Full Text Available Moyamoya disease is a cerebrovascular disease which is characterized with stenosis and occlusions at the distal part of internal carotid artery and at the proximal part of anterior and middle cerebral arteries. It rarely causes temporary or recurrent hemiparesis due to intracranial hemorrhage while symptoms like headache, convulsion, nystagmus, aphasia and ataxia may also occur. In this paper, we present a case of Moyamoya disease which was diagnosed with a 23 year old female patient who was admitted to our emergency department with headache, nausea and vomiting complaints and whose radiological findings showed occipital lobe hemorrhage.
Full Text Available Castleman%u2019s disease is a heterogeneous group of lymphoproliferative disorders with unknown etiology presenting with lymphadenopathy. Although Castleman%u2019s Disease may occur anywhere along the lymphatic chain, the mediastinum is the most common location (70%. We represent 36-year-old male patient with homogeneous retroperitoneal mass that interrelated with renal hilum of the right kidney in abdominal tomography. Surgical complete resection performed and histopathological diagnosis of the resected tissue was hyaline-vascular type of Castleman%u2019s disease It is histologically and prognostically distinct from malignant lymph-node hyperplasia. Although Castleman%u2019s disease is rare condition, it should always be kept in mind in the differential diagnosis of retroperitoneal tumors.
Singh, S. K.; Hatwal, A.; Agarwal, J.K.; Bajpai, H.S.; Sharma, I
SUMMARY The case of a 37 year old male is described who initially presented as paranoid schizophrenia unresponsive to anti-psychotic drug treatment and subsequently developed features of Grave's disease. Treatment with carbimazole alone improved his psychiatric symptoms.
Abstract. Von Willebrand Disease (VWD) is the most common human ... The most bleeding forms of VWD usually do not concern type 1 patients with the ... and collagen binding test and genanalysis allow diagnosing the different types of von.
A. Ehsanbakhsh; F. Chahkandi; H. Akhbari; S. Akbarpour; N. Khorashadizadeh
Introduction: Wolman's diseas is extremely low inci-dence infantile disease that caused by "lysosomal acid lipase enzyme" deficieny and lead to abnormal accu-mulation of triglyceride and cholesterol esters in tis...
Milovanović, D; Djukić, A; Stepanović, R; Peković, D; Vranjesević, D
The Hartnup mutation affects the amino acid transport system of the intestine and kidney used by a large group of neutral amino acids (monoamino-monocarboxylic acids) resulting in a characteristic pattern of neutral aminoaciduria [2, 5, 6]. In this research clinical and neurological methods and a great number of laboratory tests were used. Patient 1. A 16-year-old girl, born in 1972, was a full-term newborn. Her psychomotor development was normal. She is the eldest of three children in the family. Till the age of 10 the girl was healthy, except for the mild skin disorders on uncovered parts of the body, face and hands, occurring in springtime almost every year. She had had two exacerbations of the disease. The first exacerbation lasted between the end of April and August 22, 1982. The second began in the middle of November 1987 and finished on May 31, 1988. A changeable and severe clinical feature in this girl was characterized by polymorphic, transient mainly cerebral symptoms, papilloedema with peripapillary haemorrhage and pellagra-like skin rash. At the beginning of the disease the left spastic haemiplegia with bilateral Babinski's reflex and diffuse brain oedema were observed. Signs of the upper motor neurone lesion and myoclonic jerks of limbs and face were most persistent during the first and second exacerbation of the disease. Dysinhibition phenomenon: mandibular, snout and palmomental reflexes were sometimes positive. Mental states at the time of hospitalization were changed and characterized by bradypsychic, torpid, disoriented in time and confused at the beginning of the disease. She had severe psychotic episodes during the second relapse of the disease. The symptoms and signs of the disease as well as pellagra-like skin rash resolved with nicotinamide therapy. Patient 2. A 38-year-old man; clinically healthy, with no skin lesions. A gross aminoaciduria was found in this case. However, the amino acids pattern was atypical. This new, rare disease was
Rissling, Ida; Körner, Yvonne; Geller, Frank; Stiasny-Kolster, Karin; Oertel, Wolfgang H; Möller, J Carsten
Previously, we found a significant association between the dopamine D2 receptor gene polymorphism Taq IA and sudden onset of sleep in patients with Parkinson disease. Here we evaluated the association between the preprohypocretin (-909T/C), (-22C/T), and (-20C/A) polymorphisms and sudden onset of sleep in the same population of patients with Parkinson disease. We conducted an association study analyzing the distribution of preprohypocretin polymorphisms in Germanic, caucasian Parkinson disease patients with and without sudden onset of sleep, matched according to drug therapy, disease duration, sex, and age. Movement disorders section at a university hospital. 132 Parkinson disease patients with sudden onset of sleep and 132 Parkinson disease patients without sudden onset of sleep. Blood samples were taken from each participant and used for DNA extraction. Polymorphisms were analyzed by established polymerase chain reaction protocols or direct sequencing. The variant allele T of the (-909T/C) preprohypocretin polymorphism was more commonly found in Parkinson disease patients with sudden onset of sleep. Statistical analysis showed that there were significant differences in the genotype (P = .024) and allele (P = .018) distribution between both groups. For heterozygous and homozygous carriers of allele T, the genotype relative-risk estimates for the presence of sudden onset of sleep were 2.01 (95% confidence interval: 0.76-5.34) and 2.81 (95% confidence interval: 1.09-7.25), respectively. Our results show a significant association between the (-909T/C) preprohypocretin polymorphism and sudden onset of sleep in Parkinson disease. However, we could not demonstrate any interaction between the Taq IA and (-909T/C) polymorphisms with respect to the occurrence of sudden onset of sleep, suggesting that multiple genetic factors may contribute to the pathogenesis of this phenomenon.
Full Text Available Background. Huntington disease occurrs rarely, it can be encountered not only by neurologists and psychiatrists but also by other medical practitioners. Its characteristic features are involuntary movements, cognitive disorders and gradual development of dementia. Diagnosis is given on the basis of these clinical features, positive familial anamnesis, with the laboratory exclusion of other neuropsychiatric diseases and with the help of neuroimaging methods (in particular NMR. The disease can be only confirmed by means of genetic analysis.Patients and methods. In this article, four cases of patients with Huntington disease and diverse psychiatric disorders that were hospitalised at the psychiatric department of the Maribor General Hospital between October 2002 and March 2003 are described. All the patients fulfilled the valid criteria for the diagnosis of Huntington disease. However, they differed according to their accompanying psychiatric psychopathology, age and social problems.Conclusions. The purpose of this article is to draw attention to different psychiatric symptoms and clinical manifestations of Huntington disease that are often misleading in the diagnostic process. In addition, exigency of early diagnostics, guidelines for referrals to genetic testing and psychiatric monitoring of these patients are emphasised.
Full Text Available Refsum Disease is a rare autosomal recessive error of lipid metabolism; onset of symptoms in "classic Refsum disease" or "adult Refsum disease" ranges from age seven months to after age 50 years. The identification of symptoms, that interest all the senses, is essential for the management. We briefly describe a case occasionally diagnosed in adult life and analyzed the main aspects of this rare disease.
We report two cases of Paget′s disease of bone. One case with unilateral monostotic involvement of maxilla and other with a complete spectrum of the disease affecting all bones. A special point of interest in the first case is osteomyelitis complicating Paget′s disease of maxilla.
Full Text Available Crohn’s disease is a granulomatous inﬂammatory bowel disease. Its pathologic ﬁndings include non-contiguous chronic inﬂammation and non-caseating granulomas, sometimes with extra-intestinal localizations. Sinonasal manifestations of Crohn’s disease are quite rare and only a few cases have been reported up to date in the worldwide literature. They are characterized by chronic mucosal inﬂammation, obstruction, bleeding and occasionally septal perforation. We report a case of sinonasal granulomatosis revealing Crohn’s disease in a 22-year-old woman and go over the available literature on sinonasal involvement in Crohn’s disease.
Kürstein, Pia; Gluud, Lise L; Willemann, Marlene;
This study evaluates the agreement between reported use of interventions for patients with liver diseases and research evidence in Cochrane systematic reviews.......This study evaluates the agreement between reported use of interventions for patients with liver diseases and research evidence in Cochrane systematic reviews....
A.D.M.E. Osterhaus (Albert); P. Koraka (Penelope); B.E.E. Martina (Byron)
textabstractFlavivirus infections are the most prevalent arthropod-borne infections world wide, often causing severe disease especially among children, the elderly, and the immunocompromised. In the absence of effective antiviral treatment, prevention through vaccination would greatly reduce morbidi
A.D.M.E. Osterhaus (Albert); P. Koraka (Penelope); B.E.E. Martina (Byron)
textabstractFlavivirus infections are the most prevalent arthropod-borne infections world wide, often causing severe disease especially among children, the elderly, and the immunocompromised. In the absence of effective antiviral treatment, prevention through vaccination would greatly reduce
Arthropod-borne pathogens account for millions of deaths each year. Understanding the genetic mechanisms controlling vector susceptibility to pathogens has profound implications for developing novel strategies for controlling insect transmitted infectious diseases. The fact that many viruses carry...
Full Text Available Introduction. Modern knowlegde defines Mikulicz´s disease as a part of immunoglobulin G4-related disease. The main feature is the presence of lymphoplasmacytic infiltrates, immunoglobulin G4 plasma cells positivity, distinctive storiform fibrosis and moderate eosinophilia. Case report. A 59-years old male presented with a mild keratoconjuctivitis sicca and enlarged lacrimal and salivary glands during the last two years. Althought clinical presentation of the patient was typical, earlier testing did not pinpoint Mikulicz ´s disease. By typical clinical presentation, elevated serum immunoglobulin G4 level and histopathological finding of lacrimal glands tissue we diagnosed Mikulicz´s disease successfully treated with corticosteroid therapy. Conclusion. We reported the first case of IgG4-related Mikulicz´s disease in Serbia. Our report highlights IgG4-related Mikulicz` s disease as an important differential diagnosis with Sjögren`s syndrome and lymphoproliferative disease in rheumatological practice.
Márcio Rios Leite; Sandra Sousa Santos; André Castro Lyra; Jaciane Mota; Genoile Oliveira Santana
Crohn's disease is a chronic inflammatory disorder of the gastrointestinal tract that is defined by relapsing and remitting episodes. Tumor necrosis factor alpha (TNF-α) appears to play a central role in the pathophysiology of the disease. Standard therapies for inflammatory bowel disease fail to induce remission in about 30% of patients. Biological therapies have been associated with an increased incidence of infections, especially infection by Mycobacterium tuberculosis (Mtb). Thalidomide is an oral immunomodulatory agent with anti-TNF-α properties. Recent studies have suggested that thalidomide is effective in refractory luminal and fistulizing Crohn's disease. Thalidomide costimulates T lymphocytes, with greater effect on CD8+ than on CD4+ T cells, which contributes to the protective immune response to Mtb infection. We present a case of Crohn's disease with gastric, ileal, colon and rectum involvement as well as steroid dependency, which progressed with loss of response to infliximab after three years of therapy. The thorax computed tomography scan demonstrated a pulmonary nodule suspected to be Mtb infection. The patient was started on thalidomide therapy and exhibited an excellent response.
Motolese, Alberico; Mola, Federica; Cherubino, Mario; Giaccone, Micol; Pellegatta, Igor; Valdatta, Luigi
Ledderhose disease is disorder of the plantar aponeurosis. This disease is not so common and can be tackled with a surgical or conservative approach. A case of a 73-year-old man came to our attention who had a 26-year history of painless bilateral plantar nodules coalescing into an indurated mass. An ulcerative nodule had been noted in the last 16 months on the right foot, in the absence of trauma, not responsive to conservative treatment, so we decided to perform a biopsy. The histopatologic examination showed squamous cell carcinoma, with warty, well-differentiated, low-grade malignancy. Surgical treatment was suggested, so, in pneumoischemia, we made a surgical incision including the skin lesion. Then we proceeded to sculpture the anterolateral thigh fasciacutaneous flap to obtain adequate soft tissue coverage. The tumor was completely removed. Current reconstructive possibilities comprise a good anatomofunctional recovery even in the case of large demolition requests for the therapy of advanced cases of the disease described in this article. Correlation between Ledderhose disease and the formation of malignant tumors has not been made as yet, but perhaps an element that could unite these pathologies can be researched in the lively cell proliferation that characterizes both. It would be interesting to analyze the biological substrate, as well as the systemic and local levels, in patients where both diseases are manifested.
Kluding, Patricia; McGinnis, Patricia Quinn
The primary impairments associated with Parkinson's disease occur in combination with the secondary, preventable effects of immobility. A community-based fitness program may help increase activity and maintain function in people in the early or middle stages of the disease. This article describes a unique program designed to reduce fall risk and promote independent exercise for people with Parkinson's disease. Two 66-year-old males, both community ambulators and in early or middle stages of Parkinson's disease, participated in 3 months of various physical activities. Group balance classes were held twice weekly during the first month, participants joined a fitness center and self-directed their exercise program during the second month, and group Tai Chi classes were held twice weekly during the third month. At conclusion of the program, participants were given suggestions for continued physical fitness activities. After the 3-month program, improvements were noted for both individuals in functional reach, Timed Up and Go, and Berg Balance scores. Both participants continued to exercise regularly for at least 8 months following the program. Two individuals with Parkinson's disease demonstrated improvement in their balance test performance over a 3-month period. Perhaps most importantly, these participants independently continued exercising after completing this program.
Zsolt Barta; Eva Zold; Arpad Nagy; Margit Zeher; Istvan Csipo
Celiac disease (CD) is an autoimmune disorder of the small intestine that occurs in genetically predisposed people at all ages. However, it can be associated also to other immunopathological disorders, and may be associated with abnormal histology in segments of the gut other than the small bowel including colonic inflammation. While guidelines for endoscopic investigation of the jejunum are well defined, no indication is defined for colonic investigation. We describe four cases of concurrent CD and microscopic colitis (MC) diagnosed at our department over a 10-year period and analyzed the main features and outcomes of CD in this setting. The symptoms of these patients were improved initially by a gluten-free diet before the onset of MC symptoms. Two of the patients were siblings and had an atypical form of CD. The other two patients with CD and MC also presented with fibrosing alveolitis and were anti-Saccharomyces cerevisiae antibody positive. The co-existence of immune-mediated small bowel and colonic inflammatory and pulmonary diseases are not well-known, and no systematic approach has been used to identify the lifelong patterns of these immune-based diseases. Patients can develop, or present with CD at any stage in life, which can co-exist with other gastrointestinal diseases of (auto-) immune origin. In addition, the familial co-existence and prevalence of MC in patients with a prior diagnosis of CD are unclear. Clinicians managing celiac disease should be aware of these associations and understand when to consider colon investigation.
Full Text Available Crohn´s disease is a chronic inflammatory bowel disease still with unknown etiology. In 0.5-20 % of patients, extraintestinal lesions in the oral cavity can be presented in forms of orofacial granulomatosis, cobblestone and corrugated oral mucosa, mucosal tags, deep linear ulcerations with hyperplastic folds, pyostomatits vegetans, aphthous ulcers, angular cheilitis, labial/facial edema and gingival erythema/edema. We describe a case of a 28-year-old male who was presented with oral lesions of Crohn´s disease and treatment procedure. The patient was candidate for biologic treatment so dental procedures and preparation of the patient for treatment are described. Good communication and cooperation between the patient's doctor and dentist are important for successful treatment.
Khader, Yousef; Alhabashneh, Rola; Alhersh, Fadi
The development of self-reported measures of periodontal disease would be of great benefit to facilitate epidemiological studies of periodontal disease on a larger scale, and to allow for surveillance of the periodontal condition of populations over time. To develop a culturally adapted self-reported measure of periodontal disease, test its predictive and discriminative validity and establish a cut-off value for this measure to diagnose periodontal disease. A total of 288 Jordanian adults completed the questionnaire assessing self-reported periodontal health (18 questions) and underwent periodontal examination. Of the 18 questions, six were significantly associated with at least one clinical definition of periodontitis and were used to constitute the self-reported periodontal disease measure. Receiver-operating characteristics (ROC) curve analyses were used to examine the overall discriminatory power, sensitivity and specificity, and corresponding cut-off points of the self-reported periodontal disease measure. ROC analysis showed that the self-reported periodontal disease measure had an excellent performance to discriminate between those with and without periodontal disease, regardless of the clinical definition used. A score of 2, on a scale of 0 to 6, had the highest sensitivity and specificity to detect periodontal disease when defined by all study criteria. Significant associations were observed between self-reported periodontal disease measures and all clinical definitions in the regression analysis (the odds ratio ranged from 8.31 to 18.96), according to the clinical definition to be predicted. Self-reported periodontal disease measures have excellent predictive and discriminative validity when tested against clinical definitions, and severity and extent of periodontal disease. © 2015 FDI World Dental Federation.
Yang, Chih-Sheng; Lo, Chung-Ping; Wu, Man-Chun
Background Fahr’s disease is a rare neurodegenerative disorder characterized by diffuse intracranial calcium deposition and associated cell loss mainly in bilateral basal ganglia and dentate nuclei of the cerebellum. Subarachnoid hemorrhage and epileptic syncope had been reported as acute presentation of Fahr’s disease. We here report a 36-year-old male Indonesian diagnosed as Fahr’s disease presenting with young-onset ischemic stroke. Case presentation A 36-year-old male Indonesian without p...
Andreadis Emmanuel A; Agaliotis Gerasimos D; Mousoulis George P
Abstract Introduction We report an unusual case of Wilson's disease that was revealed by presentation of leptospirosis. The prompt detection of this potentially life-threatening disease highlights the importance of careful investigation. To the best of our knowledge, this is the first reported case of leptospirosis involving the development of fulminant liver failure due to Wilson's disease. Case presentation A 17-year-old Caucasian woman presented with fever, rigors, vomiting and scleral jau...
Hozyasz, Kamil; Czerwińska, Barbara
Coeliac disease is characterized by life-long gluten intolerance. There are a wide variety of clinical presentations, which range from severe diarrhoea and weight loss to asymptomatic forms. The primary treatment for coeliac disease is the removal of gluten from the diet to prevent both immediate and long-term complications. The case of 16-year-old girl with coeliac disease was presented. At the age of 2 years the patient with impaired growth and abnormal stools was suspected to have coeliac disease. She experienced symptomatic improvement on gluten-free diet, but after 3 years the treatment was discontinued. The patient denied gastrointestinal or skin problems. At the age of 14 years Raynaud's phenomenon was observed for the first time. Two years later episodes of Raynaud's phenomenon involved all fingers and toes. Body mass index (BMI) was 23.8 kg/m2. Levels of free-carnitine, tocopherol, vitamin B12 were below normal limits and homocysteine level was increased. Antiendomysial IgA, antireticulin IgA, antigliadin IgA and IgG antibodies were positive. The duodenal mucosa showed total villous atrophy. Gluten free-diet and multivitamin supplementation provided some benefit in reducing Raynaud's phenomenon. The patient's well being has improved markedly. Atypical coeliac disease is usually seen in adolescents and adults in whom features of overt malabsorption are often absent. In cases of health problems occurring in persons with history of malabsorption syndrome in childhood suspicion of coeliac disease should be heightened and appropriate evaluation undertaken.
GUO Xiu-ming; QIN Xin-yue; HUANG Cheng
Background Hirayama disease is a juvenile muscular atrophy of the distal upper extremities and affects mainly young males.The present study aimed to investigate the neuroelectrophysiological characteristics of Hirayama disease.Methods We retrospectively analyzed the neural conduction velocity (NCV) parameters and needle-electrode electromyograms (EMG) of 14 patients with Hirayama disease.According to the clinical features of the patients,NCV was performed on affected upper-limb including median nerves and ulnar nerves,while EMG was selectively performed on upper and lower extremities,sternocleidomast and thoracic paraspinal muscles.Results The median nerves of all affected upper limbs of patients with Hirayama disease had normal conduction velocities and compound motor action potentials (CMAPs).The ulnar nerves of all affected upper limbs also had normal conduction velocities.Of the 16 measured ulnar nerves of the affected upper limbs,eight had normal CMAPS,while the other eight showed CMAPs below the normal value by ＞20％.All patients had neurogenic injury on the affected side in muscles innervated by anterior horn cells at the lower cervical region (C7-8,T1).Four patients had unilateral upper-limb muscle neurogenic injury on the affected side.Seven patients had bilateral upper-limb muscle neurogenic injury,while only two patients experienced bilateral upper-limb muscle atrophy / weakness.The other three patients showed extensive neurogenic injury (unilateral upper-limb muscle atrophy/weakness in one patient,bilateral symptoms in the other two patients).Conclusions Electromyographic examination showed that the majority of Hirayama disease patients exhibited characteristic segmental injury in the anterior horn of the lower cervical region,while a few patients exhibited extensive neurogenic injury.These data suggest that the actual influence of Hirayama disease may be more extensive than indicated by the clinical presentations.
Szymański, Łukasz; Bodera, Paweł; Stankiewicz, Wanda
Aim of the study Due to their prevalence and negative social effects, cardiovascular diseases belong to a group of civilization diseases. Previous research suggests comorbidity of heart diseases, mood disorders and impaired cognitive functioning. The aim of this study was to evaluate the psychoneuroimmunological aspects of functioning in patients diagnosed with cardiovascular diseases. Material and methods Ten persons, mean age 48.2 years old, diagnosed with primary hypertension, were studied. All of them were treated with beta blockers and ACE inhibitors with unsuccessful therapeutic effect. This group also included 4 subjects with heart rate disturbances. The control group included 10 clinically healthy volunteers in mean age 46.8. All participants had 24-hour ECG monitoring with Holter method in order to evaluate the autonomic activity with time and frequency domain analysis (heart rate variability). Patients also underwent neuropsychological assessment of quality of life and personality traits (EQ-5D, NEO-PI-R, PSS10, SWLS, MHLC). Quantitative evaluation of immune system parameters included: TCD3, TCD4, CD8, CD16/CD56, CD19, HLA-DR+. Results The cardiovascular disease group showed significantly lower time and frequency domain parameters (p < 0.05) except low/high frequency (LF/HF) power ratio. The heart rhythm disorder group demonstrated significant relationships such as: Quality of life with Total Power of HRV and day-time LF/HF ratio, pNN50 and rMSSD – negative correlation. Conclusions 1. In cardiovascular disease patients, activity of the autonomic nervous system is significantly reduced. 2. Impaired modulation of the autonomic nervous system activity affects mood and decreases quality of life. 3. In patients with heart rhythm disturbances, increased sympathetic nervous system activity affects prolonged tension and the immune response. PMID:27536207
Lourdes Marimón Amador
Full Text Available The case of a four-year old boy with Pott's disease diagnosed by clinical, radiological and laboratory study at the Guido Valladares National Hospital in East Timor is presented. Inquiries about the etiopathogenesis of the disease in relation to the family and personal history were conducted. This is a very complex and clinically important case since a rare and serious complication was observed in the child. It is concluded that early diagnosis of this condition is essential due to its poor prognosis once developed.
Wildman-Tobriner, Benjamin; Allen, Brian C; Davis, Joseph T; Miller, Chad M; Schooler, Gary R; McGreal, Nancy M; Quevedo, Reinaldo; Thacker, Julie K; Jaffe, Tracy A
To objectively compare the content of structured reports (SR) vs nonstructured reports (NSR) for magnetic resonance enterography (MRE) of pediatric patients with Crohn's disease, and to evaluate referring clinicians' subjective assessment of reports. This institutional review board-approved, Health Insurance Portability and Accountability Act-compliant retrospective study included 25 pediatric subjects (15 male, 10 female; mean age = 14 years [range: 9-18 years]) with Crohn's disease imaged with MRE. Three radiologists independently interpreted all examinations using both NSR and SR, separated by 4 weeks. Reports were assessed for documentation of the presence or absence of 15 key reporting features. A total of 30 reports (15 NSR [5 per reader] and 15 SR [5 per reader]) were randomly selected for review by 3 referring physicians, who subjectively evaluated the reports independently. NSR documented the presence or absence of 7.7 ± 2.5 key features, whereas SR documented 14.0 ± 0.8 features (P < 0.001). SR resulted in increased documentation of 12 of 15 features including stricture (P < 0.001), fistula (P < 0.001), fluid collection (P = 0.003), and perianal disease (P < 0.001). Referring physicians preferred SR regarding ease of information extraction, clarity of anatomy, and ability to identify disease phenotype (P < 0.01 for each). The use of structured reporting in describing pediatric Crohn's disease, MRE resulted in significantly increased reporting of key features. Referring clinicians also demonstrated a subjective preference for SR. Copyright © 2017 Elsevier Inc. All rights reserved.
Noh, O Kyu [Dept. of Radiation Oncology, Ajou University School of Medicine, Suwon (Korea, Republic of); Lee, Sang Wook; Lee, Jae Whan; Kim, Sang Yoon; Kim, Chung Soo; Choi, Eun Kyung; Ahn, Seung Do [Dept. of Radiation Oncology, Ajou University School of Medicine, Suwon (Korea, Republic of)
Castleman's disease or angiofollicular lymph node hyperplasia is a rare lymphoproliferative disorder. Complete surgical resection was recommended in unicentric Castleman's disease. Radiotherapy was considered alternative therapeutic option. However, there have been consistent favorable responses to radiotherapy. We also experienced two cases of uncentric Castleman's disease salvaged successfully with radiotherapy. This paper described these cases and reviewed the literature about Castleman's disease treated with radiotherapy. Reviewed cases showed that radiotherapy is a successful treatment option in unicentric Castleman's disease. Furthermore, our report confirms the radiotherapy role in uncentric Castleman's disease.
Noh, O Kyu [Dept. of Radiation Oncology, Ajou University School of Medicine, Suwon (Korea, Republic of); Lee, Sang Wook; Lee, Jae Whan; Kim, Sang Yoon; Kim, Chung Soo; Choi, Eun Kyung; Kim, Jong Hoon; Ahn, Seung Do [Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)
Castleman's disease or angiofollicular lymph node hyperplasia is a rare lymphoproliferative disorder. Complete surgical resection was recommended in unicentric Castleman's disease. Radiotherapy was considered alternative therapeutic option. However, there have been consistent favorable responses to radiotherapy. We also experienced two cases of uncentric Castleman's disease salvaged successfully with radiotherapy. This paper described these cases and reviewed the literature about Castleman's disease treated with radiotherapy. Reviewed cases showed that radiotherapy is a successful treatment option in unicentric Castleman's disease. Furthermore, our report confirms the radiotherapy role in uncentric Castleman's disease.
Full Text Available A child with aggressive and resistant Kawasaki disease with coronary aneurysm is described. Despite two doses of immune globulin and high dose of aspirin the patient was treated with the third dose of immune globulin. The patient apparently responded to normalization of symptoms and signs, with no more progression of coronary artery abnormalities.
Buonaguro, Franco M.
The AIDS and Infectious Diseases (AID) PMP of the WFS contributed this year with a session on August 22nd to the Plenary Sessions of the International Seminars on Planetary Emergencies and Associated Meetings--46th Session: The Role of Science in the Third Millennium (Erice, 19-24 August 2013). Furthermore a workshop on August 24th was organized...
Abstract. Eales' disease is a retinal vasculopathy of unknown origin. ... During crises, visual acuity was under 2/10, and then it went back up to 10/10 ... HIV, Lyme), blood tests (converting enzyme, angiotensin II, calcium), tuberculin skin test, ...
Thao, Choua; Lagstein, Amir; Allen, Tadashi; Dincer, Huseyin Erhan; Kim, Hyun Joo
Respiratory involvement in Crohn's disease (CD) is a rare manifestation known to involve the large and small airways, lung parenchyma, and pleura. The clinical presentation is nonspecific, and diagnostic tests can mimic other pulmonary diseases, posing a diagnostic challenge and delay in treatment. We report a case of a 60-year-old female with a history of CD and psoriatic arthritis who presented with dyspnea, fever, and cough with abnormal radiological findings. Diagnostic testing revealed an elevated CD4:CD8 ratio in the bronchoalveolar lavage fluid, and cryoprobe lung biopsy results showed non-necrotizing granulomatous inflammation. We describe here the second reported case of pulmonary involvement mimicking sarcoidosis in Crohn's disease and a review of the literature on the approaches to making a diagnosis of CD-associated interstitial lung disease.
Bhakat, Soumendranath; Karubiu, Wilson; Jayaprakash, Venkatesan; Soliman, Mahmoud E S
Neglected tropical diseases are major causes of fatality in poverty stricken regions across Africa, Asia and some part of America. The combined potential health risk associated with arthropod-borne viruses (arboviruses); Dengue virus (DENV), West Nile Virus (WNV) and Chikungunya Virus (CHIKV) is immense. These arboviruses are either emerging or re-emerging in many regions with recent documented outbreaks in the United States. Despite several recent evidences of emergence, currently there are no approved drugs or vaccines available to counter these diseases. Non-structural proteins encoded by these RNA viruses are essential for their replication and maturation and thus may offer ideal targets for developing antiviral drugs. In recent years, several protease inhibitors have been sourced from plant extract, synthesis, computer aided drug design and high throughput screening as well as through drug reposition based approaches to target the non-structural proteins. The protease inhibitors have shown different levels of inhibition and may thus provide template to develop selective and potent drugs against these devastating arboviruses. This review seeks to shed light on the design and development of antiviral drugs against DENV, WNV and CHIKV to date. To the best of our knowledge, this review provides the first comprehensive update on the development of protease inhibitors targeting non-structural proteins of three most devastating arboviruses, DENV, WNV and CHIKV.
US Fish and Wildlife Service, Department of the Interior — This report provides an overview of how FY06 CWD funds were expended within region 6. Funds were focused on management implementation, including surveillance,...
US Fish and Wildlife Service, Department of the Interior — This report provides an overview of how FY04 CWD funds were expended within region 6. It describes planning efforts for CWD surveillance, response, risk-needs...
US Fish and Wildlife Service, Department of the Interior — This report provides an overview of how FY05 CWD funds were expended within region 6. Funds were focused on surveillance and response planning, management...
Lillian Bensley, PhD
Full Text Available IntroductionIncreasing evidence supports associations between periodontal disease and various chronic conditions. Possible explanations include chronic inflammatory processes, shared pathogens, and shared risk factors, such as smoking and psychosocial stress. The objective of this study was to assess associations of periodontal disease with metabolic syndrome and number of chronic diseases.MethodsAs part of the Washington Adult Health Survey, a household-based cross-sectional study conducted during 2006-2007 among adults aged 25 years or older in Washington State, we collected questionnaire data, blood samples, and anthropometric measures. We used these data to assess associations of periodontal disease with metabolic syndrome and the number of self-reported chronic diseases, controlling for age, sex, annual household income, smoking, and psychosocial stress. We used both complete case and multiple imputation Poisson regression analyses.ResultsIn the adjusted complete case analysis, 1.4 times as many chronic conditions were found among people with severe compared with no periodontal disease, and people with severe periodontal disease were 1.5 times more likely to have metabolic syndrome than people with no periodontal disease. Arthritis and liver disease were individually associated with severe periodontal disease. Results of the multiple imputation analyses were similar.ConclusionThese results suggest that people with severe periodontal disease are likely to have more chronic diseases and are more likely to have metabolic syndrome compared with people without periodontal disease. Research about the effectiveness of periodontal treatment to help prevent or control chronic diseases is needed.
Full Text Available Background: Fahr′s disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. No case of Fahr′s disease with associated cardiac conduction disease has been described in the literature to date. The objective of this case report was to describe a young female with various cardiac conduction system abnormalities and bilateral basal ganglia calcifica-tion suggestive of Fahr′s disease. Case Report: A 19-year-old female was transferred to our hospital for a pacemaker insertion. Her past medical history included cognitive impairment and asymptomatic congenital complete heart block since birth. Her manifestations in-cluded cognitive impairment, tremors, rigidity, ataxia, bilateral basal ganglia calcification without clinical manifesta-tions of mitochondrial cytopathy. She also had right bundle branch block, left anterior fascicular block, intermittent complete heart block, atrial arrhythmias with advanced atrioventricular blocks and ventricular asystole manifested by Stokes-Adams seizures, which was diagnosed as epilepsy. Conclusions: According to our knowledge, this was the first case report of a su spected association between Fahr′s disease and isolated cardiac conduction system disease. In addition, this case illustrated that in patients with heart blocks and seizures, a diagnosis of epilepsy needs to be made with caution and such patients need further evaluations by a cardiologist or electrophysiologist to consider pacing and prevent future catastrophic events.
Objective: To study the therapeutic effect of photodynamic therapy for extramammary Paget's disease.Methods: DIOMED 630 nm diode laser was used as light source and photofrin as photosensitizer. The patient's lesion was irradiated for 24-72 h after administrating of photofrin. The power density was 100-150 mW/cm2 and energy density was 150-300J/cm2. Dosage of photofrin was 2 mg/kg. Results: Lesion darkened 24 h after irradiation and formed a scar 96-120 h after irradiation. One patient's lesion disappeared, three patients' lesion diminished apparently and one patient's lesion was not controlled 3 months later. Conclusion: Photodynamic therapy is an effective modality for extramammary Paget's disease.
JANATI, Ali; HOSSEINY, Mozhgan; GOUYA, Mohammad Mehdi; MORADI, Ghobad; GHADERI, Ebrahim
Background: Communicable disease reporting and surveillance system has poor infrastructure and supporters in most of countries. Its quality improvement is a challenge and requires an accurate and efficient care and reporting systems at all levels to achieve new and simple models. This study evaluates reporting systems of communicable diseases using systematic review. Methods: This was a systematic review study. For data collection, we used the following database and search engines: Proquest, Science direct, Pub MED, Scopes, Springer, and EBESCO. For Persian databases, we used SID, Iranmedex and Magiran. Our key words were “Communicable Diseases”, “Notifiable Disease”, “Disease Notification”, “Reporting System”,” Surveillance Systems” and “evaluation”. Two independent researchers reviewed the resources and the results were classified in different domains. Results: From 1889 cases, only 66 resources were studied. The results were classified in several domains, including those who were reporting, reporting methods and procedures, responsibilities and reporting system characteristics, problems and solutions of the report, the reporting process, and receptor level. Conclusion: Disease-reporting system has similar problems in all parts of the world. Change, improve, update and continuous monitoring of the reporting system are very important. Although the reporting process can vary in different regions, but being perfect and timely are important principles in system design. Detailed explanations of tasks and providing appropriate instructions are the most important points to integrate an efficient reporting system. PMID:26744702
Salmon, J F; Wright, J P; Bowen, R M; Murray, A D
Recurrent episodes of uveitis occurred in a young male patient with clinical as well as radiologic and histologic evidence of Crohn's ileocolitis. His left eye became blind and painful, and was enucleated. Histopathologic examination of the eye revealed a panuveitis with evidence of granuloma formation in the choroid. While granulomatous inflammation has previously been demonstrated in extraintestinal sites, to our knowledge, this is the first histopathologic evidence of granuloma formation within the eye in Crohn's disease.
SEMBA, Ichiro; PAL, Vijay H.
The oral condition of native Fijians and dental cares were examined in this survey. The state of oral hygiene was bad and it resulted intensive gingivitis and advanced periodontitis. The tooth condition was rather good. The decayed teeth were three to four in any ages. The dental care was poor and most of it was tooth extraction. There is many problems of dental cares. Easygoing tooth extraction should bring malocclusion and advance periodontal diseases. It seems to be needed substan...
Magesh Karuppur Thiagarajan
Full Text Available A 58-year-old man presented with itchy papular eruptions all over the body since 15 years. Intraoral examination revealed raised papular lesions on the labial mucosa, hard palate, and tongue. The histopathology of the oral and skin lesions was confirmative of Darier disease (DD. This patient also showed esophageal involvement, which was confirmed histopathologically. Such a presentation of DD, with oral and esophageal involvement, is rare.
Full Text Available Introduction. Silicosis, the most prevalent of the pneumoconioses, is caused by inhalation of crystalline silica particles. Silica-exposed workers are at increased risk for tuberculosis and other mycobacterium-related diseases. The risk of a patient with silicosis developing tuberculosis is higher (2.8 to 39 fold higher, depending on the severity of silicosis than that found in healthy controls. Outline of Cases. The first patient was a 52-year-old male who was admitted in 2002 for the second time with dyspnoea, wheezing and fatigue over the last 11 years. He had worked in an iron smelting factory and was exposed to silica dust for 20 years. First hospitalization chest radiography showed bilateral pleural adhesions, diffuse lung fibrosis with signs of a specific lung process. Second hospitalization chest radiography showed bilateral massive irregular, non-homogenous calcified changes in the upper and middle parts of lungs. The patient died due to respiratory failure and chronic pulmonary heart in 2007. The main causes of his death were silicotuberculosis and chronic obstructive pulmonary disease. The second patient was a 50-year-old male who was admitted in 2005 for the second time with chest tightness, dyspnoea, wheezing and fatigue over the last 10 years. He had worked in an iron smelting factory and was exposed to silica dust for 30 years. First hospitalization chest radiography showed diffuse lung fibrosis and small nodular opacities. The patient was diagnosed with silicosis, small opacities sized level p/q, and profusion level 2/3. Second hospitalization chest radiography and CT showed diffuse lung fibrosis and small nodular opacities predominantly in the upper lobes. The patient was recognized as having an occupational disease, and received early retirement due to disability. Conclusion. In low-income countries, new cases of silicosis and associated lung cancer, chronic obstructive pulmonary disease and tuberculosis are likely to be seen
O'Callaghan, Erin T; Gold, Jeffrey I
Children with sickle cell disease (SCD) are at greater risk for developing pica compared to other children. This comorbidity can result in harmful medical and nutritional, and neurodevelopmental consequences. This article will describe the medical, nutritional, and psychosocial functioning in two children with SCD and pica in order to illustrate the potential complications and correlates of this co-morbidity. In addition, the clinical implications of pica in children with SCD will be discussed.
Salva, Katrin A.; Stenstrom, Melissa; Breadon, Jonith Y.; Odland, Paul Blair; Bennett, Daniel; Longley, Jack; Wood, Gary S.
IMPORTANCE Cutaneous Rosai-Dorfman disease (CRDD), a variant of Rosai-Dorfman disease limited to the skin, has a wide range of clinical presentations. Rosai-Dorfman disease is believed to result from an aberrant response to antigens, caused by immunosuppressive macrophages. Macrophage-mediated immunosuppression is also implicated in the pathogenesis of Crohn disease, linking these otherwise unrelated entities. To our knowledge, the coexistence of these disorders has been described in only 2 cases, 1 of them confined to the skin and soft tissue. OBSERVATIONS We present a series of 3 patients who developed purely CRDD in the context of long-standing Crohn disease. Statistical estimates suggested that the association of these 2 disorders is not due to chance (P Crohn disease. Crohn disease is frequently complicated by various skin manifestations, which may be mimicked by CRDD. Therefore, it may be prudent for clinicians to include CRDD in the list of differential diagnoses when examining skin lesions in patients with Crohn disease. PMID:24305684
Salva, Katrin A; Stenstrom, Melissa; Breadon, Jonith Y; Odland, Paul Blair; Bennett, Daniel; Longley, Jack; Wood, Gary S
IMPORTANCE Cutaneous Rosai-Dorfman disease (CRDD), a variant of Rosai-Dorfman disease limited to the skin, has a wide range of clinical presentations. Rosai-Dorfman disease is believed to result from an aberrant response to antigens, caused by immunosuppressive macrophages. Macrophage-mediated immunosuppression is also implicated in the pathogenesis of Crohn disease, linking these otherwise unrelated entities. To our knowledge, the coexistence of these disorders has been described in only 2 cases, 1 of them confined to the skin and soft tissue. OBSERVATIONS We present a series of 3 patients who developed purely CRDD in the context of long-standing Crohn disease. Statistical estimates suggested that the association of these 2 disorders is not due to chance (PCrohn disease. Crohn disease is frequently complicated by various skin manifestations, which may be mimicked by CRDD. Therefore, it may be prudent for clinicians to include CRDD in the list of differential diagnoses when examining skin lesions in patients with Crohn disease.
García, Vanessa; Alonso-Claudio, Gloria; Gómez-Hernández, M-Teresa
Abstract Background: Gorham-Stout disease (GSD) is a rare disease of unknown etiology characterized by vascular proliferation that produces destruction of bone matrix. Case description: This case is about 43 year old woman who begins with pain in sternum, dyspnea, abdominal mass and, serous-hematic pleural effusion. Imaging tests were performed showing lesions on 6th and 10th left ribs archs. Later, a thoracotomy was performed observed absence of the end of the 6th and lung, pleural and costal biopsy was token. The histologic features described lymphatic vascular proliferation in bone tissue of chest wall. Other pathologies were excluded and in view of the findings, GSD diagnosis was made. Treatment and outcome: treatment was initiated with sirolimus achieving remission of the disease after the first month; however, because the presence of metrorrhagia the treatment was discontinued, reappearing symptoms afterwards. For that reason the treatment was restarted getting disappearance of the symptoms again, 4 weeks later. Clinical relevance: we present the first clinical cases of EGS with pleural effusion with response to sirolimus treatment that could be an alternative to the current therapy.
van de Stolpe, Anja; den Toonder, Jaap
The concept of "Organs-on-Chips" has recently evolved and has been described as 3D (mini-) organs or tissues consisting of multiple and different cell types interacting with each other under closely controlled conditions, grown in a microfluidic chip, and mimicking the complex structures and cellular interactions in and between different cell types and organs in vivo, enabling the real time monitoring of cellular processes. In combination with the emerging iPSC (induced pluripotent stem cell) field this development offers unprecedented opportunities to develop human in vitro models for healthy and diseased organ tissues, enabling the investigation of fundamental mechanisms in disease development, drug toxicity screening, drug target discovery and drug development, and the replacement of animal testing. Capturing the genetic background of the iPSC donor in the organ or disease model carries the promise to move towards "in vitro clinical trials", reducing costs for drug development and furthering the concept of personalized medicine and companion diagnostics. During the Lorentz workshop (Leiden, September 2012) an international multidisciplinary group of experts discussed the current state of the art, available and emerging technologies, applications and how to proceed in the field. Organ-on-a-chip platform technologies are expected to revolutionize cell biology in general and drug development in particular.
Shelly, Ellen M; Acuna-Soto, Rodolfo; Ernst, Kacey C; Sterling, Charles R; Brown, Heidi E
Chagas disease, a disease caused by Trypanosoma cruzi, disproportionately affects poor people throughout Latin America. In Mexico, assessments of officially reported burden have not been previously reported. To evaluate discontinuity between surveillance data and data from other sources, we used data from the Mexican Ministry of Health to describe the distribution of reported Chagas disease over time in Mexico and compare it with estimates from the literature. We summarized age and sex differences for Chagas cases and mortality for 1995-2013 and 1982-2010, respectively. We examined the spatial distribution of Chagas disease over time with respect to disease burden. We further compared officially reported figures with estimates from the literature. Among 6,494 officially reported cases, rates of Chagas disease were highest in adults aged 25-44 years (47.3%). Mortality was highest in adults aged ≥45 years (423/495, 85.5%). The data indicated increasing temporal trends for incidence and mortality. The greatest burden occurred in southern states, with increasing spatial distribution over time. Fewer than 900 cases and 40 deaths were officially reported annually, in contrast to estimates from the literature of approximately 69,000 new cases and 25,000 deaths annually. While increasing trends in officially reported data have been observed, large discrepancies in case estimates compromise our understanding of Chagas disease epidemiology. Reported cases based on current practices are not enough to correctly assess the Chagas disease burden and spatial distribution in Mexico. Understanding the true epidemiology of this disease will lead to more focused and successful control and prevention strategies to decrease disease burden.
Sherman, Andrea; Zamulko, Alla
There are few reports in the literature where celiac disease presents with tongue manifestations, although atypical presentations of celiac disease are not uncommon. This case report highlights an atypical presentation of celiac disease in an elderly female. Our patient presented to clinic with complaints of a burning tongue for the past two years as well as occasional loose stools and fatigue. Work-up revealed iron deficiency anemia, zinc deficiency and an abnormal celiac panel. Complete symptom improvement was noted by 10 weeks into the initiation of a gluten free diet. Celiac disease can present at any age and should be considered as a differential in findings of malabsorption and gastrointestinal symptoms.
Cho, Sang Hee; Shin, Hyun Woong; Lee, Yil Gi; Koo, Mi Jin [Daegu Fatima Hospital, Daegu (Korea, Republic of)
Adventitial cystic disease (ACD) is a rare, but well-characterized vascular disease. It is most commonly seen in the popliteal artery, but it has also been reported in the venous system. The most commonly involved segment has been the common femoral vein; the disease resulted in luminal compromise and extremity swelling. We report here on a case of adventitial cystic disease of the left external iliac vein that was initially misdiagnosed as deep vein thrombosis in a 68-years-old man who presented with a painless swelling of his left leg.
Kar, Sujita Kumar; Shahi, Mohit Kumar; Tripathi, Adarsh; Sharma, Praveen Kumar
Huntington's disease (HD) is rare variant of progressive neurodegenerative disorder which follows an autosomal dominant pattern. Psychiatric comorbidities are not uncommon with HD. Mood disorder, cognitive disturbances, anxiety disorders, and psychosis are the psychiatric comorbidities reported with HD. We report here a case of HD, where psychosis developed during illness. Prognosis of psychosis in HD is emphasized in this report with review of literature.
The role of mass media in disease outbreak reporting in the United Republic of ... with accurate epidemiological reports if correct information is to reach the public. The role of media in outbreak reporting is herein discussed in relation to the ...
Full Text Available Chikungunya infection has recently re-emerged as an important arthropod-borne disease in Thailand. Recently, Southern Thailand was identified as a potentially endemic area for the chikungunya virus. Here, we report a case of severe musculoskeletal complication, presenting with muscle weakness and swelling of the limbs. During the investigation to exclude autoimmune muscular inflammation, high titers of antinuclear antibody were detected. This is the report of autoimmunity detection associated with an arbovirus infection. The symptoms can mimic autoimmune polymyositis disease, and the condition requires close monitoring before deciding to embark upon prolonged specific treatment with immunomodulators.
Ron Shaoul; Yosi Rimar; Aurora Toubi; Jorge Mogilner; Reuven Polak; Michael Jaffe
The clinical diagnosis of classic Crohn's disease (CD)of the small bowel is based on a typical history, tender right lower quadrant fullness or mass, and characteristic radiographic findings of the terminal ileum. Appendicitis may as well present with chronic or recurrent symptoms and this presentation may be confused with CD. We herein describe the case of a young teenage girl with a presumptive diagnosis of CD, who was ultimately diagnosed as having chronic nongranulomatous appendicitis. The literature on the subject is reviewed.
Full Text Available Introduction X-linked Agammaglobulinemia (XLA is one of the primary humoral immunodeficiencies. It usually presents symptoms of recurrent infections, but in some unusual cases it may present rheumatologic manifestations. Case Presentation The current paper presents the cases of two boys with arthritis treated for juvenile rheumatoid arthritis (JRA without proper responses. Addition of some recurrent infections in the course of their disease led to work-up them for immunodeficiencies. Conclusions According to the results of these work-ups, XLA was diagnosed for the cases.
Pastuszak, Żanna; Tomczykiewicz, Kazimierz; Stępień, Adam; Piusińska-Macoch, Renata; Klimczuk, Joanna; Rolewska, Agnieszka; Galbarczyk, Dariusz
Creutzfeldt-Jakob disease (CJD) is a rare syndrome of central nervous system caused by infectious protein called prion. There are four types of CJD: sporadic (sCJD), familial (fCJD), jatrogenic (jCJD) and variant (vCJD). The most frequent symptoms are rapidly progressing dementia, mioclonias, akinetic mutism and signs of cerebellum dysfunction. In sCJD, MRI often shows high signal intensity in the putamen and caudate nucleus on T2-weighted images while in vCJD pulvinar sign is often observed. 70% patients with CJD often has characteristic generalized periodic sharp wave pattern in electroencephalography. In case of 90% patients with CJD 14-3-3 protein is present in cerebrospinal fluid. Neuropathological studies play an important role in disease diagnosis. CJD incidence is 0.5-1 on 1000000 people but some cases can be undiagnosed. Presented study is a description of woman with sCJD confirmed with histopathological study. Since childhood patient had psychotic symptoms and behavior disturbances. Patient wasn't diagnosed due to this symptoms. Few months before admission to hospital her condition was getting worse. Symptoms of cerebellum, pyramidal and extrapyramidal system occurred. In cerebrospinal fluid 14-3-3 protein was detected. In EEG and MRI changes specific for sCJD was observed. After three months patient died.
Guzzo, James L; Duncan, Mona; Bass, Barbara L; Bochicchio, Grant V; Napolitano, Lena M
The recognition of Helicobacter pylori infection as a cause of peptic ulcer disease, medical regimens to eradicate the organism, and the widespread use of proton pump inhibition to suppress gastric acid secretion have revolutionized the management of peptic ulcer disease. As a result, successful medical management of peptic ulcer disease has largely supplanted the need for gastric surgery by general surgeons. Surgery is reserved for complications of the disease, refractory disease, or rare causes of ulcer disease such as gastrinoma and Zollinger-Ellison syndrome. In this report, we describe a case of intractable peptic ulcer disease that progressed to gastric outlet obstruction despite maximal medical therapy. We review the diagnostic studies utilized to evaluate the potential etiologies of peptic ulcer disease and the difficulty in diagnosing gastrinoma and Zollinger-Ellison in the setting of potent medical acid suppression therapy.
Full Text Available Abstract Malignant tumors of the nasal cavity are rare. We report the case of a 48 years old man who consulted us with a 2-year history of progressive nasal obstruction, occasional epistaxis, facial pain, and watering of the eyes. A diagnosis of olfactory neuroblastoma was established by histopathology and confirmed by immunohistochemistry. On staging, the mass was classified as a Kadish stage C tumor with extensive involvement of the nasal cavities, nasopharynx, paranasal sinuses and orbit. Endoscopic excision of the mass was done. Traditionally the mainstay of treatment in such locally advanced patients is craniofacial resection followed by adjuvant radiotherapy. Our patient was treated with limited surgery and chemoradiation. Patient is free of recurrence at a follow-up of 5 years. This case report demonstrates the potential efficacy of planned combined modality therapy, including limited surgery and early chemoradiation in the control of locally advanced olfactory neuroblastoma.
Gupta, Seema; Husain, Nuzhat; Sundar, Sham
Malignant tumors of the nasal cavity are rare. We report the case of a 48 years old man who consulted us with a 2-year history of progressive nasal obstruction, occasional epistaxis, facial pain, and watering of the eyes. A diagnosis of olfactory neuroblastoma was established by histopathology and confirmed by immunohistochemistry. On staging, the mass was classified as a Kadish stage C tumor with extensive involvement of the nasal cavities, nasopharynx, paranasal sinuses and orbit. Endoscopic excision of the mass was done. Traditionally the mainstay of treatment in such locally advanced patients is craniofacial resection followed by adjuvant radiotherapy. Our patient was treated with limited surgery and chemoradiation. Patient is free of recurrence at a follow-up of 5 years. This case report demonstrates the potential efficacy of planned combined modality therapy, including limited surgery and early chemoradiation in the control of locally advanced olfactory neuroblastoma.
Ayoade Moyo, Adebiyi; Michael Bimbo, Fawale; Morenikeji Adeyoyin, Komolafe; Valentine Nnaemeka, Amadi; Oluwatoyin, Ganiyu; Victor Oladeji, Adeyeye
Seasonal ataxia is a clinical syndrome of acute cerebellar ataxia which follows ingestion of roasted larvae of Anaphe venata Butler, an alternative protein source consumed in western Nigeria. It was first reported in the 1950s in western Nigeria when it caused a wave of epidemics. This is the first case report of this condition in the literature since 1993. We present the case of a 35 year old woman from western Nigeria who was admitted in October 2012 with acute onset of gait instability and bilateral hand tremors, preceded by several episodes of vomiting. She had ingested a meal containing roasted larvae of the African silkworm, 2 hours before the onset of vomiting. Seasonal ataxia is an important differential diagnosis of acute cerebellar ataxia among the indigenous ethnic population of western Nigeria.It is non-fatal and treatable, with complete resolution of symptoms usually following thiamine therapy.
van der Have, Mike; Fidder, Herma H.; Leenders, Max; Kaptein, Ad A.; van der Valk, Mirthe E.; van Bodegraven, Ad A.; Dijkstra, Gerard; de Jong, Dirk J.; Pierik, Marieke; Ponsioen, Cyriel Y.; van der Meulen-de Jong, Andrea E.; van der Woude, C. Janneke; van de Meeberg, Paul C.; Romberg-Camps, Marielle J. L.; Clemens, Cees H. M.; Jansen, Jeroen M.; Mahmmod, Nofel; Bolwerk, Clemens J. M.; Vermeijden, J. Reinoud; Siersema, Peter D.; Oldenburg, Bas
Background:The inflammatory bowel disease (IBD) disability index has recently been introduced to measure patients' physical, psychological, familial, and social limitations associated with IBD. We assessed factors related to self-reported disability and the relationship between disability and direct
Nakau, Reiko; Nomura, Motohiro; Kida, Shinya; Yamashita, Junkoh; Kinoshita, Akira; Nitta, Hisashi; Muramatsu, Naoki
A 59-year-old woman with type IIA von Willebrand's disease (VWD) presented with subarachnoid hemorrhage (SAH). Computed tomography showed SAH in the right sylvian fissure and intracranial hemorrhage in the right temporal lobe. Angiography demonstrated an aneurysm at the bifurcation of the right middle cerebral artery. Neck clipping was performed on the 3rd day after the onset with intra- and postoperative administration of factor VIII/von Willebrand factor concentrate. No excessive bleeding occurred. Patients with prolonged bleeding time should be screened for VWD before surgery. This is a rare case of VWD presenting with SAH secondary to ruptured intracranial aneurysm. The clinical characteristics and the management of SAH in a patient with VWD are discussed.
Mohammed Al Saghier
Full Text Available Echinococcal cysts are unusual in Canada, and most cases seen are in immigrants. In northern Canadian communities, Echinococcus granulosis infection occasionally is acquired from dogs that feed on the entrails of caribou or moose. Seventeen patients with Canadian-acquired hydatid cysts were seen over an 11-year period. One challenging case is described in detail. An 18-year-old aboriginal woman presented with jaundice, pain, lower extremity edema and coagulopathy from a 26 cm echinococcal hepatic cyst. She was successfully treated with a combination of oral albendazole, percutaneous drainage and surgery. One-year follow-up showed no recurrence of disease. The management options for echinococcal cysts are extensively reviewed.
Pediatric cardiac care in India is still in its infancy. We have no data on congenital heart disease (CHD) prevalence at birth or on proportional mortality from CHD. The resources are not only limited but also are at times improperly utilized. There are very few specialized pediatric cardiology training programs, those that are, are concentrated in certain regions of India and are often imparted through combined adult and pediatric programs. The existing number of trained personnel for pediatric cardiology and pediatric cardiac surgery is inadequate. Above all there is no national policy for pediatric heart care. Increasing awareness of the problem amongst the pediatricians through CMEs, seminars, symposia is likely to be most helpful in early diagnosis and timely referral of cases. Training programs exclusively dedicated to pediatric cardiology and pediatric cardiac surgery need to be established in centres with good standards of pediatric cardiac care.
Full Text Available Subcutaneous mycoses are not rare in Latin America. In Brazil, sporotrichosis was once almost exclusively found in rural areas, but in recent years it changed its profile and has been more frequent among urban adults. Cutaneous sporotrichosis is acquired from saprophytic dimorphic fungus Sporothrix schenckii usually found in soil, vegetation, and especially decaying organic matter in tropical, subtropical, and humid environments through cutaneous inoculation. The fungus abundantly grows on dead wood. Sporotrichosis is a health hazard present in florists, gardeners and other urban professions in contact with plants and the infection is increasingly seen as an occupational disease. The patient had been hurt in the finger by a thorn of Bouganvillea tree and a primary ulcer started.
Merida-Puga, Jorge; Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis Carlos; Fricchione, Gregory L; Espinola-Nadurille, Mariana
A young woman with Westphal variant (juvenile) Huntington disease (HD) also developed catatonia. Catatonia is an underdiagnosed psychomotor syndrome often associated with neurological and psychiatric disorders, but it has rarely been documented in patients with HD. Catatonia usually responds to standard treatment with benzodiazepines and electroconvulsive therapy; however, this patient's catatonic syndrome did not improve until we augmented the standard treatment with amantadine and levodopa. The underlying pathophysiology and a neurochemical hypothesis of HD and catatonia can explain their comorbidity and the refractoriness of catatonia to treatment. Both conditions are linked to dysregulation of neurotransmitters in the striatocortical and corticocortical pathways. This understanding may serve as a guide for the use of nonstandard treatments. Our evidence also suggests that electroconvulsive therapy can be useful and safe in the treatment of HD.
Yacoub, Abraham; Nanjappa, Sowmya; Janz, Tyler; Greene, John N
We illustrate 2 cases of pneumonia associated with Bordetella pertussis infection in 72-year-old and 61-year-old patients with cancer receiving myelosuppressive therapy after hematopoietic stem cell transplantation. Bacterial infections are a significant cause of morbidity and mortality in patients with cancer, and those receiving hematopoietic stem cell transplant, solid organ transplant, or myelosuppressive therapy are at increased risk. The infection was detected and the 2 patients had good outcomes following azithromycin treatment. Pertussis, also known as whooping cough, is a contagious respiratory illness that has become a public health challenge due to decreased immunity of the pertussis vaccine. Therefore, it is critical to recognize pertussis early in the course of the disease.
María Octavina Rodríguez Roque
Full Text Available We present the case 49-year-old unmarried woman treated at the hospital of Cienfuegos. The patient complained of weakness in the lower limbs and "numbness" (paresthesia of all four extremities, which improved slightly after treatment. A year later, the muscle weakness and paresthesia worsened, particularly in the upper limbs. She also developed hypopigmented skin lesions on the chest and abdomen. The investigation was initiated due to suspicion of hypertrophic polyneuropathy. A biopsy of the hypochromic lesions was performed, which led to the conclusion that the patient suffered from a hypertrophic polyneuropathy secondary to tuberculoid Hansen's disease. We decided to present this case since a neuropathy is usually slow, insidious and has a long course in these patients; however, leprosy reactions can lead to acute nerve damage, resulting in disabilities and deformities. Consequently, it is important to act quickly in order to avoid them.
Capote, Ana; Rodríguez, Francisco J; Blasco, Ana; Muñoz, Mario F
Jacob's disease is regarded a rare condition in which a joint formation is established between an enlarged mandibular coronoid process and the inner aspect of the zygomatic body. Chronic temporomandibular joint (TMJ) disk displacement has been proposed as etiological factor of coronoid process enlargement. We present a 23-year-old woman with long-standing TMJ dysfunction and restricted interincisal opening, who developed a progressive zygomatic asymmetry. The patient underwent treatment by intraoral coronoidectomy and homolateral TMJ arthroscopy in the same surgery. The histopathological diagnosis of the coronoid sample was cartilage-capped exostoses with presence of articular fibrous cartilage. Although the low prevalence of this entity, it should be considered as a possible diagnosis in patients with progressive limitation of mouth opening, although a TMJ syndrome may be present as a cause of this entity.
Cho, Han Il; Lee, Young Hwan; Jeon, Se Jeong; Roh, Byung Suk; Juhng, Seon Kwan [Wonkwang University Hospital, Iksan (Korea, Republic of)
Caroli's disease is a rare congenital hepatobiliary disease characterized by multifocal segmental dilatation of the intrahepatic bile ducts and hepatic fibrosis that can cause bile duct stones, cholangitis, and cholangiocarcinoma. The disease may diffusely affect the liver or be localized to one lobe or segment. Less than 20% of all reported cases of Caroli's disease are the monolobar type. We report a case of Caroli's disease of the monolobar type, which was confined to segment 4a of the liver in a 30-year-old man. The disease was diagnosed by CT and Gd-EOB-DTPA enhanced MRI, and confirmed histopathologically after a hepatic lobectomy
Cavallaro, A.; Harrer, T.; Richter, H.; Bautz, W.; Fellner, F.A. [Friedrich-Alexander-Univ., Erlangen-Nuernberg (Germany)
In this paper we report a case with primarily unspecific arthralgia after surgical therapy of hallux valgus deformity and consecutive reflex sympathetic dystrophy in which MR led to the diagnosis of Lyme disease. (orig.)
U.S. Environmental Protection Agency — This indicator shows how reported Lyme disease incidence has changed by state since 1991, based on the number of new cases per 100,000 people. The total change has...
Full Text Available A 24-year-old male presented with symptoms of acute onset altered sensorium and seizures. He was diagnosed with hypertensive encephalopathy and retinopathy. He was a candidate of double valve replacement surgery, which he underwent 3 years back. Further workup with renal artery Doppler revealed unilateral renal artery stenosis with extensive collateral circulation. Patient underwent a complete CT aortogram, which revealed large vessel vasculitis. We report this case as it is a rare initial presentation of Takayasu arteritis in a male to involve double valves of the heart
Alexandre Hassler Príncipe de Oliveira; Carlos Alberto Pires Pereira; Luciene Barbosa de Sousa; Denise de Freitas
Relatamos caso de paciente do sexo feminino, brasileira, 23 anos, residente na Alemanha, que cursou com quadro de conjuntivite granulomatosa bilateral crônica, sem acometimento ganglionar, não responsiva a tratamento tópico. A pesquisa laboratorial confirmou diagnóstico de conjuntivite por Bartonella henselae. O caso demonstra que a ausência de acometimento ganglionar não exclui o diagnóstico de doença da arranhadura do gato.We report a case of a 23-year-old female patient, Brazilian, residen...
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We report results of environmental microbiological sampling in an office building whose occupants referred different symptoms ascribable to the air conditioning system.
Legionella pneumophila serogroup 1 was detected in water samples drawn from the cooling tower with counts that ranged from 1.4 x105 to 1.5x107 CFU/L.
This biological agent is classified in the second risk group according to Italian law (D.Lgs. 626/94, consequently proper control measures in order to re-establish acceptable hygienic environment conditions and to assure healthy workplace are needed.
Lee, Eun Joo [Busan Baik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)
Castleman's disease is a rare disorder that's characterized by the proliferation of lymphoid tissue. It is very rare to find this disease arising from the sigmoid mesocolon. We report here on a case of localized Castleman's disease involving the sigmoid mesocolon, and we discuss the findings of the gray-scale ultrasonography (US), computed tomography (CT), and magnetic resonance (MR) imaging.
Jan F. Svensson
Full Text Available This case report describes a child with Castleman disease. We present an overview of the disease, the investigation leading to the diagnosis, the laparoscopic approach for surgical treatment and the follow up. This rare entity must be considered in cases of long-standing abdominal pain, cross-sectional imaging is beneficial and we support the use of laparoscopic intervention in the treatment of unifocal abdominal Castleman disease.
Full Text Available A 53-year-old man presented with a palpable mass on the left lower eyelid and occasional diplopia. Under suspicion of orbital lymphoma, an excisional biopsy was performed, and histopathology revealed Castleman′s disease. Castleman′s disease is a rare disorder of the lymphoid system, and only a few cases of Castleman′s disease in the orbit have been reported.
Full Text Available Celiac disease is an autoimmune systemic disorder. It presents gastrointestinal and nongastrointestinal manifestations as well as associated conditions. We report a 16-year-old Down syndrome girl who presented psychosis symptomatology, and she was diagnosed as having silent celiac disease. Olanzapine treatment and gluten-free diet were satisfactory. It is necessary to consider celiac disease in Down syndrome patients with psychiatric symptoms, mainly psychotic symptomatology.
Díaz, F; de la Viuda, J M; Urkijo, J C; Mendoza, F
Four cases of cat-scratch diseases are here reported and a review of the literature is made. The disease, apart from its typical presentation form as a usually self-limited regional lymph node enlargement, can occasionally spread and involve several organs systems. Indirect immunofluorescence serological tests have been of help for its diagnosis and should be included among the diagnostic criteria for the disease. In particular cases, nuclear magnetic resonance can be useful to suggests the diagnosis.
Full Text Available Donepezil, a member of the acetylcholinesterase inhibitor family, is approved for management of cognitive impairments as well as behavioral complications in patients with neurodegenerative Alzheimer's disease. Generally, donepezil is regarded as a safe medication in patients with Alzheimer’s disease although there have been reports of several minor adverse events including gastrointestinal disturbances. Herein we describe a patient with Alzheimer’s disease who demonstrated delirious behavior upon treatment with donepezil.
Chiang, Elizabeth; Packer, Clifford D
Warm antibody autoimmune hemolytic anemia is due to the presence of warm agglutinins that react with protein antigens on the surface of red blood cells causing premature destruction of circulating red blood cells. We report the first case of concurrent reactive arthritis, Graves’ disease, and autoimmune hemolytic anemia. A 40-year-old man with reactive arthritis, Graves’ disease, type 2 diabetes mellitus, mitral valve prolapse, and Gilbert’s disease presented with a one month history of jaund...
Schirmer, David A; Kawwass, Jennifer Fay
Over the past year, the Zika virus, an arthropod-borne Flavivirus, has transitioned from a relatively unknown tropical disease to the cause of a public health emergency. The Zika virus is transmitted by the Aedes species of mosquito as well as by sexual intercourse. Although the symptoms of acute Zika virus infection are usually mild and self-limited, it causes fetal microcephaly in pregnant women, and is associated with an increased risk of Guillain-Barré syndrome. The risk of microcephaly from Zika virus infection is estimated to be highest in women who are infected during the first trimester of pregnancy. The Zika virus has been shown to have significant neurotrophism in vivo and in vitro, although further study is needed to characterize its mechanisms of pathogenesis. Zika virus has previously caused two known outbreaks in the Pacific region prior to the current epidemic in South and Central America, and the current epidemic has affected at least 440,000 to 1,300,000 people. The population of the vector for the current epidemic, Aedes aegypti, varies seasonally in the United States, however there have been few documented cases of local spread of the Zika infection in the United States and it is unclear whether epidemic spread of Zika will occur within the United States.
Full Text Available Hvdatid disease is a parasitic disease usually caused by Echinococcus granulosus. It usually presents with liver involvement and uncommonly lungs and rarely other organs are involved. A rare case of hydatid testis is reported that was provisionally diagnosed as testicular tumor.
Full Text Available We report a case where acute onset cortical blindness is the mode of presentation in Moyamoya disease. Cortical blindness is very rare presenting symptom of Moyamoya disease. Progressive visual loss and homonymous anopsia has been described previously, but this case had acute visual loss.
Maniram Dudi; Rajeev Bansal; Trilochan Srivastava; Sardana R.V.
We report a case where acute onset cortical blindness is the mode of presentation in Moyamoya disease. Cortical blindness is very rare presenting symptom of Moyamoya disease. Progressive visual loss and homonymous anopsia has been described previously, but this case had acute visual loss.
Mozolevska, Viktoriya; Schwartz, Anna; Cheung, David; Shaikh, Bilal; Bhagirath, Kapil M; Jassal, Davinder S
Addison's disease is often accompanied by a number of cardiovascular manifestations. We report the case of a 30-year-old man who presented with a new onset dilated cardiomyopathy due to Addison's disease. The clinical presentation, treatment, and outcomes of this rare hormone mediated cardiac disorder are reviewed.
Mango (Mangifera indica L.) malformation disease (MMD) is one of the most important diseases affecting this crop worldwide, causing severe economic loss due to reduction of yield. Subsequent to the first report in India in 1891 (3), MMD has spread worldwide to most mango-growing regions. Several spe...
XU Lei; GAO Pei-yi; LIN Yan; TIAN Tong-de; LEI Jing; MA Li
@@ Lhermitte-Duclos disease (LDD), or dysplastic gangliocytoma of the cerebellum, is a rare hamartomatous lesion characterized by a slowly enlarging mass within the cerebellar cortex. The disease reveals unique appearance on magnetic resonance imaging (MRI). Recognition of the imaging features makes the correct diagnosis possible even without a pathological examination. Three cases are presented and analyzed in this report.
Zhou, Yi; Yin, Geng; Tan, Chunyu; Liu, Yi
Cat scratch disease may occur during etanercept therapy, but there has been no report on infliximab-associated cat scratch disease. We report a case of a 23-year-old woman who developed right inguinal lymph node enlargement following a cat scratch. The patient had received infliximab therapy for spondyloarthropathy. She was successfully managed by discontinuing infliximab and by treatment with moxifloxacin and amikacin.
Milena M. Rodrigues
Full Text Available ABSTRACTBowen's disease is a squamous cell carcinoma in situ with the potential to turn into invasive carcinoma. Pigmented Bowen's disease is an unusual variant, with few reported in the literature, and becomes a problem in the differential diagnosis with other pigmented tumors. We reported the case of a white female patient, 73-year-old, with a brownish asymmetric plaque, with more than one color, in the right upper limb, with 2-years of follow up.
The ultimate goal of this project is to identify the human gene(s) responsible for the disorder known as IBD. The work was planned in two phases. The desired products resulting from Phase 1 were BAC clone(s) containing the genetic marker(s) identified by gene/Networks, Inc. as potentially linked to IBD, plasmid subclones of those BAC(s), and new genetic markers developed from these plasmid subclones. The newly developed markers would be genotyped by gene/Networks, Inc. to ascertain evidence for linkage or non-linkage of IBD to this region. If non-linkage was indicated, the project would move to investigation of other candidate chromosomal regions. Where linkage was indicated, the project would move to Phase 2, in which a physical map of the candidate region(s) would be developed. The products of this phase would be contig(s) of BAC clones in the region exhibiting linkage to IBD, as well as plasmic subclones of the BACs and further genetic marker development. There would also be continued genotyping with new polymorphic markers during this phase. It was anticipated that clones identified and developed during these two phases would provide the physical resources for eventual disease gene discovery.
Bataille, Arnaud; Cunningham, Andrew A; Cruz, Marilyn; Cedeño, Virna; Goodman, Simon J
The black salt-marsh mosquito (Aedes taeniorhynchus) is the only native mosquito in the Galapagos Islands and potentially a major disease vector for Galapagos wildlife. Little is known about its population structure, or how its dynamics may be influenced by human presence in the archipelago. We used microsatellite data to assess the structure and patterns of A. taeniorhynchus gene flow among and within islands, to identify potential barriers to mosquito dispersal, and to investigate human-aided transport of mosquitoes across the archipelago. Our results show that inter-island migration of A. taeniorhynchus occurs frequently on an isolation by distance basis. High levels of inter-island migration were detected amongst the major ports of the archipelago, strongly suggesting the occurrence of human-aided transport of mosquitoes among islands, underlining the need for strict control measures to avoid the transport of disease vectors between islands. The prevalence of filarial nematode infection in Galapagos flightless cormorants is correlated with the population structure and migration patterns of A. taeniorhynchus, suggesting that A. taeniorhynchus is an important vector of this arthropod-borne parasite in the Galapagos Islands. Therefore mosquito population structure in Galapagos may have the potential to influence mosquito-borne parasite population dynamics, and the subsequent impacts of such pathogens on their host species in the islands.
Miguel Angel eJimenez-Clavero
Full Text Available Environmental changes have an undoubted influence on the appearance, distribution and evolution of infectious diseases, and notably on those transmitted by vectors. Global change refers to environmental changes arising from human activities affecting the fundamental mechanisms operating in the biosphere. This paper discusses the changes observed in recent times with regard to some important arboviral (arthropod-borne viral diseases of animals, and the role global change could have played in these variations. Two of the most important arboviral diseases of animals, bluetongue and West Nile fever/encephalitis, have been selected as models. In both cases, in the last 15 years an important leap forward has been observed, which has lead to considering them emerging diseases in different parts of the world. Bluetongue, affecting domestic ruminants, has recently afflicted livestock in Europe in an unprecedented epizootic, causing enormous economic losses. West Nile fever/encephalitis affects wildlife (birds, domestic animals (equines and humans, thus, beyond the economic consequences of its occurrence, as a zoonotic disease, it poses an important public health threat. West Nile virus has expanded in the last 12 years worldwide, and particularly in the Americas, where it first occurred in 1999, extending throughout the Americas relentlessly since then, causing a severe epidemic of disastrous consequences for public health, wildlife and livestock. In Europe, West Nile virus is known long time ago, but it is since the last years of the XXth century that its incidence has risen substantially. Circumstances such as global warming, changes in land use and water management, increase in travel, trade of animals, and others, can have an important influence in the observed changes in both diseases. The following question is raised: What is the contribution of global changes to the current increase of these diseases in the world?
Franzius, M; Stolte, M; Porschen, R
We report on a 22-year-old man with dysphagia and repeated bolus impaction in the esophagus for 10 years. Bolus impactions were frequently mobilised using an endoscope. At endoscopy, esophagitis IV degrees was described. After treatment with omeprazol there was no improvement. The patient was submitted to our hospital for fundoplication. pH-metry demonstrated an increased reflux. At endoscopy of the esophagus, we found red stripes which did not show the typical appearance of erosions. Manometry and X-ray films of the esophagus did not reveal any pathological findings. In combination with anamnesis, symptoms, and endoscopy, the diagnosis of eosinophilic esophagitis was documented by histology. After administration of oral corticosteroids a rapid improvement of the clinical symptoms was observed. The diagnosis of eosinophilic esophagitis should be kept in mind in patients with chronic symptoms of gastroesophageal reflux persisting despite medical therapy, pathological pH-metry and repeated bolus impactions.
Callahan, Christopher M; Tu, Wanzhu; Stump, Timothy E; Clark, Daniel O; Unroe, Kathleen T; Hendrie, Hugh C
Most Alzheimer disease clinical trials that compare the use of health services rely on reports of caregivers. The goal of this study was to assess the accuracy of self-reports among older adults with Alzheimer disease and their caregiver proxy respondents. This issue is particularly relevant to Alzheimer disease clinical trials because inaccuracy can lead both to loss of power and increased bias in study outcomes. We compared respondent accuracy in reporting any use and in reporting the frequency of use with actual utilization data as documented in a comprehensive database. We next simulated the impact of underreporting and overreporting on sample size estimates and treatment effect bias for clinical trials comparing utilization between experimental groups. Respondents self-reports have a poor level of accuracy with κ-values often below 0.5. Respondents tend to underreport use even for rare events such as hospitalizations and nursing home stays. In analyses simulating underreporting and overreporting of varying magnitude, we found that errors in self-reports can increase the required sample size by 15% to 30%. In addition, bias in the reported treatment effect ranged from 3% to 18% due to both underreporting and overreporting errors. Use of self-report data in clinical trials of Alzheimer disease treatments may inflate sample size needs. Even when adequate power is achieved by increasing sample size, reporting errors can result in a biased estimate of the true effect size of the intervention.
Leiva, Lily E; Zelazco, Marta; Oleastro, Matías; Carneiro-Sampaio, Magda; Condino-Neto, Antonio; Costa-Carvalho, Beatriz Tavares; Grumach, Anete Sevciovic; Quezada, Arnoldo; Patiño, Pablo; Franco, José Luis; Porras, Oscar; Rodríguez, Francisco Javier; Espinosa-Rosales, Francisco Javier; Espinosa-Padilla, Sara Elva; Almillategui, Diva; Martínez, Celia; Tafur, Juan Rodríguez; Valentín, Marilyn; Benarroch, Lorena; Barroso, Rosy; Sorensen, Ricardo U
This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed.
Chang, J; Bilker, W B; Hoffstad, O; Margolis, D J
Atopic dermatitis (AD) is a chronic inflammatory disease of the skin that commonly affects children. Research in AD has utilized an increasing variety of scoring measures to monitor disease, and this lack of standardization has been cited as an obstacle to evidence-based decision making. The Harmonizing Outcome Measures for Eczema (HOME) initiative aims to establish consensus on a core set of outcome measures for AD and currently recommends the Patient-Oriented Eczema Measure (POEM) for recording patient-reported outcomes. This article is protected by copyright. All rights reserved.
Del Gaizo, Andrew [Emory University School of Medicine, Radiology Resident, Atlanta, GA (United States); Banerjee, Sima [Emory University School of Medicine, Musculoskeletal Radiology Department, Atlanta, GA (United States); Terk, Michael [Emory University School of Medicine, Radiology, Division of Musculoskeletal Imaging, Atlanta, GA (United States)
Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity. The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images. (orig.)
Fahr’s disease is a progressive and idiopathic basal ganglia calcification with normal metabolism of calcium and phosphore with motor and psychiatric sings and symptoms. Dementi, chorea attetosise, psychosis and depression due to Fahr’s disease are frequently reported, but Fahr’s disease with bipolar mood disorder manifestation is very rare and we found only 3 cases in review of literature from 1995 to 2005. In this case report, a 21-years old girl is presented who was admitted to Sari-Zare p...
Zhang, Bin; Zhao, Yuying; Liu, Junling; Li, Ling; Shan, Jingli; Zhao, Dandan; Yan, Chuanzhu
Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood. PMID:27099502
Pavuluri, Pratyusha; Vadakedath, Sabitha; Gundu, Rajkumar; Uppulety, Sushmitha
Krabbe disease is a rare (one in 100,000 births) autosomal recessive condition, usually noticed among children. It causes sphingolipidosis (dysfunctional metabolism of sphingolipids) and leads to fatal degenerative changes affecting the myelin sheath of the nervous system. We report a case of a six-year-old male child who presented with symptoms of muscle spasticity and irritability. Diagnosis of this disease can only be made with clinical suspicion. Laboratory diagnosis includes brain magnetic resonance imaging (MRI), magnetic resonance (MR) spectroscopy, biochemical analysis of cerebrospinal fluid, and genetic analysis for detecting mutation in genes coding for galactosyl cerebroside (GALC). We report a case of late infantile Krabbe disease.
Antonio Adolfo Guerra Soares Brandão
Full Text Available Chronic meningococcemia is a rare clinical presentation within the spectrumof infections due to Neisseria meningitidis, which was first described in 1902.It is defined as a chronic and benign meningococcal bacteremia withoutmeningeal signs or symptoms with at least one week’s duration, characterizedby intermittent or continuous fever, polymorphic cutaneous rash, and migratoryarthropathy. The incidence is believed to be around 1:200,000 inhabitants. Itaffects predominantly young people and adults, and it is equally distributedbetween genders. Diagnosis may be challenging in the early stages of thedisease because of the difficulty in isolating Neisseria meningitidis (it reaches74% of positivity in advanced stages. Recently, the use of PCR for detectingNeisseria sp antigen in skin biopsies specimens has been considered for thoseculture-negative cases. The authors report a case of a 54-year-old femalepatient who sought medical attention for a five-day fever followed by arthralgiaand skin lesions predominantly in the lower limbs. The patient progressed toa toxemic clinical status that improved after the administration of antibiotictherapy, which consisted of oxacillin and ceftriaxone. The diagnosis of chronicmeningococcemia was performed after the isolation of Neisseria meningitidisin two different blood sample cultures. This is, to our knowledge, the firstcase of chronic meningococcemia described in Brazil (up to the writing of thisreport.
Full Text Available Abstract Introduction Cat scratch disease is an infectious disease transmitted by young cats, in which the principal causative factor is Bartonella henselae. The typical course of cat scratch disease is usually benign and self-limited and requires only supportive therapy. However, cases lasting up to 2 years have been reported, and more serious complications may occur. Many manifestations of the disease have been reported by different medical disciplines. Case presentation A case of cat scratch disease in a 71-year-old Greek woman with an unusual clinical course is presented here. Serous otitis media was combined with rotational vertigo due to labyrinthitis. The invaded ear was ipsilateral to the inoculation site. Conclusion Cervicofacial lymphadenopathy has been demonstrated as the most common otolaryngologic manifestation of cat scratch disease. Manifestation in the middle and inner ear has, to the best of our knowledge, not been reported before. Our report presents a patient with cat scratch disease with clinical signs and symptoms in the middle and inner ear.
Andreadis Emmanuel A
Full Text Available Abstract Introduction We report an unusual case of Wilson's disease that was revealed by presentation of leptospirosis. The prompt detection of this potentially life-threatening disease highlights the importance of careful investigation. To the best of our knowledge, this is the first reported case of leptospirosis involving the development of fulminant liver failure due to Wilson's disease. Case presentation A 17-year-old Caucasian woman presented with fever, rigors, vomiting and scleral jaundice. Following clinical and laboratory evaluation she was diagnosed with leptospirosis. After remission of this disease her condition inexplicably deteriorated. Further investigations revealed that she had Wilson's disease. Conclusions The unexplained deterioration of hepatic function in a young person in remission from leptospirosis should alert the clinician to the presence of an underlying disorder, such as Wilson's disease, the early detection of which is crucial to the prognosis. The mechanism that initiates the development of Wilson's disease is not fully understood, but it is thought that an intercurrent illness, such as viral infection or drug toxicity, could be implicated. In our case, leptospirosis appeared to precipitate the deterioration of liver function in a patient with Wilson's disease, advancing our knowledge of this association. This original case report could have a broader clinical impact across medicine.
Irmgard E Kronberger; Ivo W Graziadei; Wolfgang Vogel
Small bowel adenocarcinomas are remarkable for their rarity, difficult diagnosis and poor prognosis. Here we report an unusual case of a 33-year-old patient in whom infiltrative adenocarcinoma of the small bowel was diagnosed after a 10-year history of Crohn's disease. In most previously reported cases, detection of Crohn's disease was subsequent to that of carcinoma of the small bowel or the patients involved had an even longer history of the disease. Our literature review suggests that the risk of small bowel adenocarcinoma is higher in patients with Crohn's disease than in the overall population. We present details on epidemiology as well as clinical and diagnostic aspects of this rare disease entity.
Leahy, Timothy Ronan; Cohen, Eyal; Allen, Upton D
A three-year-old boy presented with community-acquired pneumonia complicated by empyema. Streptococcus pyogenes (group A streptococcus) was identified on culture of the pleural fluid. The patient improved with antibiotic therapy and drainage of the empyema. During his convalescence, the patient developed persistent fever, lethargy and anorexia. His inflammatory markers were elevated, and repeat cultures were negative. Although the patient had none of the classical mucocutaneous features of Kawasaki disease, an echocardiogram was performed, which revealed coronary artery dilation. The patient was diagnosed with incomplete Kawasaki disease and treated with intravenous immunoglobulin and high-dose acetylsalicylic acid. The fever subsided within 48 h. To the authors' knowledge, the present report is the first report of Kawasaki disease associated with complicated S pyogenes pneumonia. It emphasizes the importance of considering incomplete Kawasaki disease among children with persistent fever, the role of echocardiography in diagnosis, and the potential link between Kawasaki disease and superantigen-producing organisms such as S pyogenes.
Full Text Available Objectives: To estimate the prevalence of the common self-reported chronic diseases among adolescent students in public secondary schools in Mansoura, Egypt.Methods: This is a cross-sectional study conducted on a sample of 1493 adolescent students. Thirty clusters were selected to cover both general and vocational public schools of both sexes in urban and rural areas. A self-administered questionnaire was used to collect sociodemographic data from the students and their families, as well as a checklist of 15 chronic diseases.Results: About 6% of students reported one or more chronic somatic disease. The most frequent are acne vulgaris (4.2%, rheumatic heart disease (3.4%, refractive errors (1.4 and bronchial asthma (1.1%. This pattern does not show significant differences between males and females.Conclusions: Despite the self-reported nature, our findings indicate that Egyptian adolescents are not healthy as it is often considered.
Zach N Adelman
Full Text Available BACKGROUND: The impact of global climate change on the transmission dynamics of infectious diseases is the subject of extensive debate. The transmission of mosquito-borne viral diseases is particularly complex, with climatic variables directly affecting many parameters associated with the prevalence of disease vectors. While evidence shows that warmer temperatures often decrease the extrinsic incubation period of an arthropod-borne virus (arbovirus, exposure to cooler temperatures often predisposes disease vector mosquitoes to higher infection rates. RNA interference (RNAi pathways are essential to antiviral immunity in the mosquito; however, few experiments have explored the effects of temperature on the RNAi machinery. METHODOLOGY/PRINCIPAL FINDINGS: We utilized transgenic "sensor" strains of Aedes aegypti to examine the role of temperature on RNA silencing. These "sensor" strains express EGFP only when RNAi is inhibited; for example, after knockdown of the effector proteins Dicer-2 (DCR-2 or Argonaute-2 (AGO-2. We observed an increase in EGFP expression in transgenic sensor mosquitoes reared at 18°C as compared with 28°C. Changes in expression were dependent on the presence of an inverted repeat with homology to a portion of the EGFP sequence, as transgenic strains lacking this sequence, the double stranded RNA (dsRNA trigger for RNAi, showed no change in EGFP expression when reared at 18°C. Sequencing small RNAs in sensor mosquitoes reared at low temperature revealed normal processing of dsRNA substrates, suggesting the observed deficiency in RNAi occurs downstream of DCR-2. Rearing at cooler temperatures also predisposed mosquitoes to higher levels of infection with both chikungunya and yellow fever viruses. CONCLUSIONS/SIGNIFICANCE: This data suggest that microclimates, such as those present in mosquito breeding sites, as well as more general climactic variables may influence the dynamics of mosquito-borne viral diseases by affecting
Palman, J; May, J; Pilkington, C
Macrophage activation syndrome is described as a "clinical syndrome of hyperinflammation resulting in an uncontrolled and ineffective immune response" in the context of an autoinflammatory or rheumatic disease. Current associations of macrophage activation syndrome with autoimmune disease most notably include a host of rheumatological conditions and inflammatory bowel disease. Epidemiological studies have shown that macrophage activation syndrome is precipitated by autoimmune disease more commonly than previously thought. Diagnosing the precipitating factor is essential for effective treatment and prognosis. We report a case of a six year old girl with coeliac disease diagnosed after two episodes of secondary haemophagocytic lymphohistiocytosis. Her condition only responded to treatment once the patient was placed on a gluten free diet. Further immunological testing confirmed anti-transglutaminase and anti-endomysial antibodies, however histological biopsy was deemed inappropriate due to the severity of her condition. She has remained stable with no further episodes of macrophage activation syndrome since commencing a gluten free diet. This case report is the first literature that links macrophage activation syndrome to coeliac disease and highlights the challenge of diagnosing coeliac disease with unusual features such as associated prolonged fever. Clinicians should have a low threshold for screening children with other autoimmune diseases for coeliac disease.
Chen, Louis C; Green, Jennifer B
Unilateral Graves' disease is a rare disease variant that can occur in a bilobar thyroid gland. We report the first documented case of unilateral Graves' disease in the left lobe of a bilobar thyroid gland and review the pertinent literature. A 48-year-old man presented in June 2010 with thyrotoxicosis. I-131 radioisotope uptake was elevated at 33.4%, and scintigraphy revealed that uptake of the radioisotope was uniformly increased in the left lobe of the thyroid gland. Ultrasonography of the thyroid gland revealed a non-nodular, enlarged, and heterogeneous left lobe; Doppler investigation of the lobe showed hypervascularity classically seen in Graves' disease. The right lobe of the thyroid, on the other hand, appeared homogeneous and hypovascular on ultrasonography. Thyroid-stimulating immunoglobulin was significantly elevated at 191% (reference range Graves' disease was the most likely diagnosis. As has occasionally been described in the literature, unilateral involvement of the thyroid gland is a rare presentation of Graves' disease. Pre-existing functional or structural differences (either congenital or acquired) between the two lobes may contribute to this rare presentation. To our knowledge, this is the first reported case of unilateral Graves' disease presenting in the left lobe of a bilobar thyroid gland. Although the pathophysiology of unilateral Graves's disease has not been clearly elucidated, clinicians should be aware that Graves' disease can present unilaterally in either lobe of the thyroid gland.
Castiella, Agustin; Zapata, Eva; Lucena, M Isabel; Andrade, Raúl J
The aetiology of autoimmune hepatitis (AIH) is uncertain but the disease can be triggered in susceptible patients by external factors such as viruses or drugs. AIH usually develops in individuals with a genetic background mainly consisting of some risk alleles of the major histocompatibility complex (HLA). Many drugs have been linked to AIH phenotypes, which sometimes persist after drug discontinuation, suggesting that they awaken latent autoimmunity. At least three clinical scenarios have been proposed that refers to drug- induced autoimmune liver disease (DIAILD): AIH with drug-induced liver injury (DILI); drug induced-AIH (DI-AIH); and immune mediated DILI (IM-DILI). In addition, there are instances showing mixed features of DI-AIH and IM-DILI, as well as DILI cases with positive autoantibodies. Histologically distinguishing DILI from AIH remains a challenge. Even more challenging is the differentiation of AIH from DI-AIH mainly relying in histological features; however, a detailed standardised histologic evaluation of large cohorts of AIH and DI-AIH patients would probably render more subtle features that could be of help in the differential diagnosis between both entities. Growing information on the relationship of drugs and AIH is being available, being drugs like statins and biologic agents more frequently involved in cases of DIAILD. In addition, there is some evidence on the fact that patients diagnosed with DIAILD may have had a previous episode of hepatotoxicity. Further collaborative studies in DIAILD will strengthen the knowledge and understanding of this intriguing and complex disorder which might represent different phenotypes across the spectrum of disease.
Sujita Kumar Kar
Full Text Available Huntington's disease (HD is rare variant of progressive neurodegenerative disorder which follows an autosomal dominant pattern. Psychiatric comorbidities are not uncommon with HD. Mood disorder, cognitive disturbances, anxiety disorders, and psychosis are the psychiatric comorbidities reported with HD. We report here a case of HD, where psychosis developed during illness. Prognosis of psychosis in HD is emphasized in this report with review of literature.
Full Text Available Abstract Introduction Kawasaki disease is regarded as systemic vasculitis. Many experts believe that not only coronary arteries but also other small arteries are involved during the period of systemic inflammation. However, the evidence to support this point view is limited. Case presentation We report the case of a one-year-four-month-old Taiwanese girl whose patent ductus arteriosus was incidentally found during an episode of Kawasaki disease. The ductus closed spontaneously after the acute phase of Kawasaki disease. Conclusions In this patient, the patent ductus arteriosus may have closed spontaneously after Kawasaki disease due to its involvement in the generalized vasculitis that this disease incurs. This would support the theory that the vasculitis of Kawasaki disease is limited not only to coronary arteries but also to all medium- sized arteries.
O'Connor, T M
INTRODUCTION: Patients with Type 1 diabetes mellitus have a high prevalence of coeliac disease, symptoms of which are often mild, atypical, or absent. Untreated coeliac disease is associated with an increased risk of malignancy, particularly of lymphoma. We describe four patients with Type 1 diabetes mellitus and coeliac disease who developed lymphoma. CASE REPORTS: Two patients were male and two female. In three patients, coeliac disease and lymphoma were diagnosed simultaneously. Enteropathy-associated T cell lymphoma occurred in two patients, Hodgkin\\'s disease in one, and B cell lymphoma in one. Response to treatment was in general poor, and three patients died soon after the diagnosis of lymphoma was made. CONCLUSION: As the relative risk of lymphoma is reduced by a gluten-free diet, a high index of suspicion for coeliac disease should exist in all Type 1 diabetic patients with unexplained constitutional or gastrointestinal symptoms.
Full Text Available Celiac disease is an immune mediated enteropathy with sensitivity to gluten. It is a disease with heterogenous presentation. We report a case of a 12 year old who presented with episodes of recurrent anemia. The patient had no gastro intestinal symptoms. Celiac disease should be considered in any child with iron resistant anemia even if no gastrointestinal symptoms are present. Celiac Disease is an immune mediated enteropathy with permanent sensitivity to gluten in genetically susceptible individuals.1 The clinical manifestation of the disease can be quite varied. The various clinical symptoms described with celiac disease include failure to thrive, diarrhea, vomiting, short stature, delayed puberty, iron deficiency anemia not responding to hematinics etc.1 In some patients anemia might be the sole presentation.2
Pawłowska-Kamieniak, Agnieszka; Krawiec, Paulina; Pac-Kożuchowska, Elżbieta; Mroczkowska-Juchkiewcz, Agnieszka; Kominek, Katarzyna
Coeliac disease is a chronic immune-mediated inflammation of the small intestine elicited by the gluten ingestion in genetically susceptible people. In coeliac patients there is higher incidence of other autoimmune disorders like type 1 diabetes or Hashimoto's thyroiditis. The coexistence of coeliac disease and inflammatory bowel disease is rare. The spectrum of presentation of coeliac disease and inflammatory bowel disease may be similar. However, those disorders require various therapeutic approaches. Thus, early recognition of the overlap between coeliac disease and inflammatory bowel disease is crucial to apply appropriate treatment and to prevent possible complications. We report a case of a 6-year-old boy with a delay in physical and psychomotor development, rickets, severe anaemia and bloody diarrhoea. He was diagnosed with coeliac disease and ulcerative disease. The coexistence of both disorders is extremely rare in childhood. However, ulcerative colitis should be considered in coeliac children on restrictive gluten-free diet with persistent diarrhoea or bleeding from lower gastrointestinal tract. Screening for coeliac disease should be considered in children with ulcerative colitis with impaired physical development and lack of remission despite of proper treatment. © 2016 MEDPRESS.
Ko, Hee Sun; Woo, Ji Young; Hong, Hye Suk; Jung, Ah Young; Yang, Ik; Lee, Yul [Dept. of Radiology, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul (Korea, Republic of)
Castleman disease, or angiofollicular lymph node hyperplasia, is a fairly rare benign tumor of lymphoid origin with unknown etiology. Castleman disease arises mostly in the mediastinum, and some cases of renal and retroperitoneal involvement have been reported. However, Castleman disease that simultaneously involves the kidney and regional lymph nodes has not been reported in radiologic literature. We report a case of renal and pararenal Castleman disease, mimicking renal cell carcinoma with retroperitoneal lymphadenopathy.
Dantas, Thinali Sousa; Nascimento, Isabelly Vidal do; Verde, Maria Elisa Quezado Lima; Alves, Ana Paula Negreiros Nunes; Sousa, Fabrício Bitu; Mota, Mário Rogério Lima
Oral melanoacanthoma is a mucocutaneous, pigmented, rare, benign, and probably reactive lesion. This paper reports for the first time in the literature a case of multifocal oral melanoacanthoma in a patient diagnosed with Addison's disease and concomitant Graves' disease with hyperthyroidism. The patient presented with oral pigmented lesions, which were hypothesized to be mucosal pigmentation associated with Addison's disease. Due to their unusual clinical pattern, these oral lesions were biopsied and diagnosed as oral melanoacanthoma on histopathology and immunohistochemistry for HMB-45. At the moment of this report, the patient was being treated for her systemic conditions, but the lesions had not regressed. Reactive hyperpigmentation of the skin and mucous membranes may be found in Addison's disease and hyperthyroidism. This case reinforces the hypothesis of a reactive nature for oral melanoacanthoma and highlights the need for investigation of endocrine disorders in patients with multifocal oral melanoacanthoma.
Rholl, J C; Yavorski, R T; Cheney, C P; Wong, R K
Esophagogastric fistula formation as a complication of esophageal Crohn's has been reported in only one case in the literature. In addition, only eight cases of esophageal fistulae of any type have been reported in the setting of Crohn's disease. Unlike the more often described superficial, aphthous disease of the esophagus, response of fistulae to medical therapy has been disappointing, and recurrence and progression are likely. Surgery remains the primary modality for refractory disease. The roles of salicylates, antibiotics, immunosuppressive agents, sealants, and intralesional steroid injections have not been well defined. We present a case of severe, refractory Crohn's disease with fistula formation between the esophagus and stomach, and concomitant involvement of the oropharynx, duodenum, terminal ileum, and cecum.
Thaden, Jeremy J; Tsang, Michael Y; Ayoub, Chadi; Padang, Ratnasari; Nkomo, Vuyisile T; Tucker, Stephen F; Cassidy, Cynthia S; Bremer, Merri; Kane, Garvan C; Pellikka, Patricia A
It is presumed that echocardiographic laboratory accreditation leads to improved quality, but there are few data. We sought to compare the quality of echocardiographic examinations performed at accredited versus nonaccredited laboratories for the evaluation of valvular heart disease. We enrolled 335 consecutive valvular heart disease subjects who underwent echocardiography at our institution and an external accredited or nonaccredited institution within 6 months. Completeness and quality of echocardiographic reports and images were assessed by investigators blinded to the external laboratory accreditation status and echocardiographic results. Compared with nonaccredited laboratories, accredited sites more frequently reported patient sex (94% versus 78%; Pheart disease. Future quality improvement initiatives should highlight the importance of high-quality color Doppler imaging and echocardiographic quantification to improve the accuracy, reproducibility, and quality of echocardiographic studies for valvular heart disease. © 2017 American Heart Association, Inc.
Full Text Available IgG4-related disease (IgG4-RD is a new, multiorgan and constantly evolving disease characterized by IgG4-positive plasma cells in the affected organ. This disease often affects the elderly. The pancreas is the main target organ affected, with almost all organs in the body being affected. A large amount of studies have been conducted to understand the pathogenesis of the disease and its spectrum. For accurate diagnosis of the condition, an adequate knowledge of imaging findings, clinical presentations and laboratory reports is essential. We report two cases of the IgG4-RD and review the recent literature about this increasingly recognized entity.
Park, Kt; Harris, Merissa; Khavari, Nasim; Khosla, Chaitan
Patients with celiac disease (CD) are increasingly interconnected through social media, exchanging patient experiences and health-tracking information between individuals through various web-based platforms. Social media represents potentially unique communication interface between gastroenterologists and active social media users - especially young adults and adolescents with celiac disease-regarding adherence to the strict gluten-free diet, gastrointestinal symptoms, and meaningful discussion about disease management. Yet, various social media platforms may be underutilized for research purposes to collect patient-reported outcomes data. In this commentary, we summarize the scientific rationale and potential for future growth of social media in patient-reported outcomes research, focusing on college freshmen with celiac disease as a case study and provide overview of the methodological approach. Finally, we discuss how social media may impact patient care in the future through increasing mobile technology use.
Aekplakorn, Wichai; Suriyawongpaisal, Paibul; Methawikul, Thanaporn
The diagnosis and reporting of occupational diseases are important components of any occupational disease surveillance system. These two factors were assessed in 222 Thai physicians by using a self-administered questionnaire. Study results show that a proper diagnosis of occupational disease is hampered by the following: lack of knowledge about occupational medicine; a shortage of environmental data; a lack of consultation services and laboratory facilities. Concern about possible legal implications also prevents physicians from making a diagnosis of occupational disease. Evidence shows that financial incentive seems to play a crucial role in physicians' compliance with the reporting system. A number of remedial approaches are proposed, including the improvement of professional training, the development of standard practice guidelines, and novel financial measures for healthcare providers. Improvement calls for the collaborative effort of all responsible agencies and warrants further research that will guide policy and practice.
Lidia Torres Aja
Full Text Available Paget’s disease of the breast is rare, accounting for only 1 to 1.5 % of all reported breast cancers cases. It frequently occurs in females in a 99:1 ratio compared to male, during the fourth or fifth decades of life in pre- or postmenopausal women. A case of Paget's disease of the breast clinically manifested by an eczematous lesion in a 76-year-old male patient is presented. This is the first case of Paget's disease of the breast in men diagnosed in the province of Cienfuegos. Due to the unusual presentation of this disease in males, the present case report is considered important for health professionals.
Kim, Ki Nam; Lee, Ki Nam; Kang, Myong Jin; Roh, Mee Sook; Choi, Pil Jo; Yang, Doo Kyung [Donga University, Pusan (Korea, Republic of)
Castleman disease is a relatively rare disorder of lymphoid tissue that involves the gastrointestinal tract in a variety of clinical and pathologic manifestation. A submucosal location has never been described in the medical literature. We report a case of esophageal Castleman disease involving the submucosal layer in a 62-year-old man, which was confirmed on pathology. Esophagography and CT demonstrated an intramural tumor, and a leiomyoma or leiomyosarcoma was suspected based on the known incidence of such tumors.
Full Text Available Abstract Castleman's disease (CD is a rare, localized or generalized, lymphoproliferative disorder with a frequent mediastinal location, but possible in any lymph node or extra nodal site. It usually appears in young adults whilst it rarely occurs in childhood. There are only about 100 pediatric cases published, five of them in Italy. We report 3 cases of localized Castleman's disease, investigated in our Department in a 3 years period and reviewed the literature.
Full Text Available Hydatid disease, most commonly caused by the larval stage ofEchinococcus granulosus, affects mainly human liver andlung, and rarely other parts of the body. It is prevalent in mostsheep-raising Mediterranean Countries including Iran. Peritonealhydatid cyst, either primary or secondary, represents anuncommon but significant manifestation of the disease. Thepresent case report describes a case of primary isolated hydatiddisease of omentum, which to our knowledge constitutesthe first case of this kind in Iran.
SHI Su-sheng; SUN Yun-tian; GUO Lei
@@ Rosai-Dorfman disease (RDD),also known as sinus histiocytosis with massive lymphadenopathy (SHML),is a rare benign entity of unknown etiology.Extranodal SHML (ESHML) may occur as part of a generalized process involving lymph nodes or may involve extranodal sites independent of the lymph node status.Here we report a case with a Rosai-Doffman disease of the lung and review the literature.
Jayasooriya, P R; Abeyratne, S; Ranasinghe, A W; Tilakaratne, W M
Focal epithelial hyperplasia (FEH) (Heck's disease) is essentially a benign oral infection produced by the human papillomavirus (HPV). Although this condition is known to exist in numerous populations and ethnic groups, it is relatively rare in South-East Asia. The following report is based on two cases of adult FEH with histopathological features in favour of the disease. In addition, polymerase chain reaction was performed to detect the presence of HPV DNA in the lesions in order to confirm the histopathological diagnosis.
Full Text Available Acquired Hemophilia A (AHA is a rare bleeding diathesis characterized by the development of autoantibodies against factor VIII (FVIII. About half of the cases are idiopathic and the other half are associated with autoimmune diseases, postpartum problems, infections, inflammatory bowel disease, drugs, lymphoproliferative disorders or solid tumors . AHA is associated with malignancies in 7-15% of cases. We report a case of AHA in a 65 year old patient with prostatic carcinoma, who underwent retropubic radical prostatectomy (RP.
Pacheco, Misty; Katz, Alan R; Hayes, Donald; Maddock, Jay E
Pelvic inflammatory disease (PID) is a notifiable disease in Hawaii with legal implications for noncompliance. A previous study comparing PID diagnoses in Hawaii's hospitals and state surveillance data confirmed underreporting in Hawaii. Reasons for noncompliance and underreporting are not well understood. All licensed primary care physicians in Hawaii were mailed a survey addressing PID diagnosis and reporting attitudes and practices. Hierarchical logistic regression was used to determine if physician characteristics, PID knowledge, or attitudes related to the diagnosis or reporting of PID, increased the odds of diagnosing and reporting PID. Among survey respondents (486 of 1,062; response rate of 45.8%), 104 (21.4%) had diagnosed PID. The PID reporting rate was 55.8% (58 of 104). The majority of physicians who diagnosed PID reported that PID reporting was time consuming. In hierarchical regression, obstetrician/gynecologists and family practitioners had the highest odds of diagnosing PID and internists had the lowest odds of reporting PID, those 15 years or longer since residency were less likely to report PID than those fewer than 15 years since residency, and increased PID diagnosing and reporting knowledge increased the odds of PID reporting by 1.63 times. Our findings suggest the need for training of all physicians on reportable diagnoses on a regular basis. There is a need to simplify the reporting process, because the time burden of reporting may present a modifiable barrier to reporting. Increased PID-related communication between local health departments and physicians is essential, and physicians should be provided technical assistance with reporting. Copyright © 2016 Jacobs Institute of Women's Health. Published by Elsevier Inc. All rights reserved.
Full Text Available Abstract Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. Case presentation We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described. Conclusions Although progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making.
Narayana Gowda BS
Full Text Available Introduction: Hirayama’s disease is a rare benign disorder, also referred to as monomelic amyotrophy (MMA, Juvenile non progressive amyotrophy, Sobue disease. It is a focal, lower motor neuron type of disease. Mainly young males in their second and third decades of age are most commonly affected. It is seen most commonly in Asian countries like India and Japan. In majority of people cause of this disease is unknown. MRI of cervical spine in flexion will reveal the cardinal features of Hirayama disease. Case Report: A 22 year gentleman came with a history of insidious onset of weakness in both the hands begenning with left side followed by right of 4 years duration. On examination he had clawing of both hands with wasting of forearm muscles. Lower limbs had no abnormality with normal deep tendon reflexes. MRI showed thinning of cord from C4 to C7 level suggestive of cord atrophy. Based on these features a diagnosis of focal amyotrophy was made. A cervical collar was prescribed and patient is under regular follow up. Conclusion: Hirayama disease is a rare self-limiting disease. Early diagnosis is necessary as the use of a simple cervical collar which will prevent neck flexion, has been shown to stop the progression. Keywords: Hirayama’s disease, monomelic amyotrophy, Juvenile non-progressive amyotrophy, Sobue disease.
Full Text Available Cat scratch disease (CSD is the most well-known zoonotic disease spread by domestic animals like cats. Cats are the source of Bartonella henselae. Most patients more than ninety percent 3-12 days after a scratch from a cat, undoubtedly a little cat with insects present with one or more erythematous injuries at the site of inoculation, the sore is typically a crusted papule or, once in a while, a pustule. More than half of cases in one study show that the systemic indications went with the lymphadenopathy. These may incorporate fever, discomfort, migraine and anorexia and frequently happen in immunocompromised patients. Atypically clinical manifestations happen are altered mental status, perplexity, prolonged fever, respiratory protestations (atypical pneumonitis, Joint pain, synovitis, Back agony is uncommon. The hypothesis of the study to find out that cat scratch disease cause typical and atypical clinical manifestation. Study was conducted July 2015 to September 2015. The methodology sections of a review article are listed all of the databases and citation indexes that were searched such as Web of Science and PubMed and any individual journals that were searched. Various case reports were mentioned in the study. Case reports of cat scratch diseases with typical and atypical clinical manifestation included in the study. The objective of review of these reporting cases is to make physicians aware about cat scratch diseases and also need to create awareness about cat scratch disease in pet owner. Although it is self-limiting needs to report to health authorities. There are few cases reported in which mostly cases reported in twain, japan, Brazil, Texas, United States, Dhaka, Spain with typical and atypical clinical manifestation
Full Text Available Kawasaki disease is an acute febrile disease predominantly seen in young children. We report a case of Kawasaki disease in a 32-year-old pregnant woman. She developed a generalized erythematous skin rash accompanied by high fever. Bilateral conjunctival congestion, tender cervical lymphadenopathy, an edematous lower lip and peripheral edema followed by desquamation were observed. She was successfully treated with aspirin and intravenous gammaglobulin (1 g/kg/day. Her course was not complicated by coronary artery aneurysm and she delivered a healthy baby. To the best of our knowledge, this is the first case of Kawasaki disease in a pregnant woman. We suggest that Kawasaki disease should be included in the differential diagnosis of a generalized, erythematous skin rash accompanied by high fever in adults.
Takami, Yoshinori; Une, Yumi
Ambystoma mexicanum kept as pets are affected by a variety of diseases. However, no reports regarding the incidence of specific diseases are available. This study aimed to identify the diseases that occur frequently in this species by surveying the incidence of conditions in pet A. mexicanum specimens brought to a veterinary hospital. The sample comprised 97 pet A. mexicanum individuals brought to the authors' hospital during the 82-month period, i.e., from January 2008 to October 2014. In total, 116 diseases were identified. The most common disease was hydrocoelom (32 cases; 27.5% of all cases). Elucidating the pathogenesis of hydrocoelom, which has a high prevalence rate, is vital to maintaining the long-term health of A. mexicanum pets.
Ricardo Azêdo de Luca Montes
Full Text Available Systemic sclerosis is a complex disease due to the variety of clinical presentations, often superimposed on other conditions, related or not to the connective tissue. We report a 43-year-old Brazilian woman with limited systemic sclerosis and pulmonary symptoms secondary to gastroesophageal reflux disease, with a clinical presentation similar to a diffuse interstitial lung disease. Because of the frequency of interstitial lung injury due to systemic sclerosis, this was an important differential diagnosis, which could be excluded after optimized treatment of reflux disease, with clinical and radiological improvement. Clinical management of patients with collagen diseases requires clinician skills to identify the natural history and understand its nuances. This is a common situation in clinical practice, but with a few discussions in international literature.
Cutolo, Carlo A; Lombardo, Sara; Verticchio Vercellin, Alice C; Bertone, Chiara; De Amici, Mara; Antoniazzi, Elena; Milano, Giovanni
Purpose. Dupuytren disease is an inherited proliferative and progressive connective disease. Ectopic disease may, however, be located distant from the palmar fascia. Methods. Case report and review of the literature. Results. We describe a case of symmetric bilateral posterior subcapsular cataracts associated with symmetric bilateral Dupuytren disease and symmetric bilateral Ledderhose disease in a 56-year-old Caucasian man. His medical history was negative for glucocorticoids intake, diabetes, and exposure to radiation. Serum transforming growth factor β (TGF-β)1 concentration has been evaluated and was found to be almost double compared to the controls. Conclusions. We speculate that the TGF-β plays an important role for ocular and connective tissue disorders.
Kisabay, Aysin; Sari, Ummu Serpil; Boyaci, Recep; Batum, Melike; Yilmaz, Hikmet; Selcuki, Deniz
Myasthenia gravis is a disease of neuromuscular junction due to auto-immune destruction of the acetylcholine receptors. Behçet's disease, on the other hand, is a multisystemic vascular-inflammatory disease. Both conditions are not common in the general population although their association has not been reported in the literature. We wanted to present our patient who developed clinical course of myasthenia gravis following discontinuation of medications due to complications of corticosteroid for Behçet's disease. It was observed that clinical findings of myasthenia gravis recovered following restarting steroid treatment and he did not experience attacks of both conditions. Although Myasthenia gravis and Behçet's disease are distinct entities clinically as well as in terms of pathogenesis, they share common physiopathological features and their treatment is based on their common features.
Full Text Available Castleman’s disease (angiofollicular lymphoid hyperplasia includes a heterogeneous group of lymphoproliferative disorders. The cause of this disease remains uncertain. There are two types of localized Castleman’s disease: the more common hyaline vascular and the plasma cell types. Mixed variant is an uncommon localized lesion in general population. The lesions can occur in any part of the body that contains lymphoid tissue, although seventy percent are found in the anterior mediastinum. We report a thirty years old boy with Castleman’s disease who presented with fever, anorexia, weight loss,sweating, anemia and abdominal mass. The histologic examination of the biopsy specimens revealed a mixed hyaline vascular and plasma cell type of Castleman’s disease.
Full Text Available Coeliac disease is associated with an increased risk of malignancy, not only of intestinal lymphoma but also of small intestinal adenocarcinoma which is 82 times more common in patients with celiac disease than in the normal population. We report three additional cases of a small bowel adenocarcinoma in the setting of coeliac disease in order to underline the epidemiological features, clinicopathological findings, and therapeutic approaches of this entity based on a review of the literature. The three patients underwent a surgical treatment followed by adjuvant chemotherapy based on capecitabine/oxaliplatin regimen, and they have well recovered.
Full Text Available Abstract Introduction Male breast cancer is rare compared to its female counterpart representing less than 1% of cancer in men. Moreover, mucinous carcinoma of the male breast is an extremely rare histological subtype of malignancy. Paget's disease of the nipple is rarely observed in males. Case report Herein, we describe a unique case of an 86 years old man with mucinous breast cancer presenting as Paget's disease of the nipple. According to the immunohistochemical evaluation the neoplastic cells were positive for estrogen (ER and progesterone receptors (PR. Conclusion To our best knowledge this is the first case of mucinous male breast cancer presenting as Paget's disease of the nipple.
Lee, Jeong Hoon; Lee, Ji Hoon; Ko, Yong; Paik, Seoung Sam; Lee, Young Jun [Dept. of Radiology, Hanyang University Hospital, Seoul (Korea, Republic of); Park, Dong Woo [Dept. of Radiology, Hanyang University Hospital, Seoul (Korea, Republic of)
Immunoglobulin G4 (IgG4)-related disease is a well-known disorder characterized by an inflammatory reaction with an increase in the number of IgG4-positive plasma cells associated with sclerosis. IgG4-related disease often affects the dura mater with a pattern of diffuse thickening when the central nervous system is involved. However, some nodular dural thickening requires discrimination from tumors because of obviously different treatment options. We report of a case of IgG4-related disease with tumefactive dural involvement.
Kessler, Brice A; Bookhout, Christine; Jaikumar, Sivakumar; Hipps, John; Lee, Yueh Z
We report the neuroimaging and histopathologic findings of a 12-year-old female patient with a disseminated oligodendroglial-like leptomeningeal tumor with anaplastic progression and presumed extraneural metastatic disease. These tumors may represent distinct pathology primarily seen in pediatric patients. Neuroimaging demonstrates diffuse, progressive enhancement of the leptomeninges often with interval development of intraparenchymal lesions on follow-up. Disease is typically confined to the central nervous system, though diffuse peritoneal disease was seen in our case, possibly through metastatic seeding of the abdomen via ventriculoperitoneal shunt.
Swaroop, Rohina; Zabaneh, Raja; Parimoo, Nakul
Introduction Pregnancy in patients with end-stage renal disease is rare due to numerous factors that impair fertility. Even if pregnancy does occur pregnancy outcome with a live birth has a low success rate. Case presentation We report two cases of successful pregnancy in patients with end-stage renal disease on hemodialysis. Conclusion The purpose of hemodialysis is not only to maintain life but also to make quality of life as normal as possible for the end-stage renal disease patient. Propa...
Full Text Available Occasionally, pregnancy can occur in patients receiving hemodialysis due to chronic kidney disease. Despite successful pregnancies reported in the literature, high complication rates and progression of renal disease can be observed. Major risk factors are maternal age, type of renal disease, dialysis prior to pregnancy, age at the time of dialysis, dialysis modality, hemoglobin, blood urea nitrogen, creatinine levels during pregnancy and dialysis dose. Improvements in dialysis technology and patient follow-up and multidisciplinary approach in the last years have lead to higher rates of fertilisation and succesful pregnancies with live births.
van Oers MHJ
Full Text Available Abstract Background Multicentric Castleman's disease (MCD is a rare disease, but is more frequent in AIDS patients. MCD has only been reported twice before in patients receiving immunosuppressive therapy after renal transplantation, and never in patients receiving immunosuppressive therapy without transplantation. About half of the cases of MCD are human herpesvirus 8 (HHV8 – related, in contrast to Kaposi's sarcoma, a more common complication arising after immunosuppression, where the virus is found in virtually all cases. Case presentation We report a HIV-1 negative, non-transplant patient who developed HHV8-associated multicentric Castleman's disease and Kaposi's sarcoma after 17 years of immunosuppressive treatment with cyclosporin A for a minimal change nephropathy. Chemotherapy with liposomal doxorubicin resolved both symptoms of multicentric Castleman's disease and Kaposi's sarcoma in this patient. A concomitant decline in the HHV8 viral load in serum/plasma, as determined by a quantitative real-time PCR assay, was observed. Conclusions Multicentric Castleman's disease can be a complication of cyclosporin A treatment. Both multicentric Castleman's disease and Kaposi's sarcoma in this patient were responsive to liposomal doxorubicin, the treatment of choice for Kaposi's sarcoma at the moment, again suggesting a common mechanism linking both disorders, at least for HHV8-positive multicentric Castleman's disease and Kaposi's sarcoma. HHV8 viral load measurements can be used to monitor effectiveness of therapy.
Dennis N. F. Lim
Full Text Available Eosinophilic gastrointestinal disorder is a rare disorder characterised by eosinophilic infiltration of the gastrointestinal tract. There are various gastrointestinal manifestations with eosinophilic ascites being the most unusual and rare presentation. Diagnosis requires high index of suspicion and exclusion of various disorders associated with peripheral eosinophilia. There are no previous case reports to suggest an association between eosinophilic gastrointestinal disorder and coeliac disease in adults. We report a case of eosinophilic ascites and gastroenteritis in a 30-year-old woman with a known history of coeliac disease who responded dramatically to a course of steroids.
Yang, Chen; Friess, Stuart H; Dehner, Louis P
The clinical history of a 12-year-old boy with trisomy 21 who suffered from relapsed pre-B cell acute lymphocytic leukemia with clinical symptoms of hepatic veno-occlusive disease and death is reported. The postmortem findings were significant for hepatic mucormycosis with selective involvement of the central veins, sinusoids, and portal tracts resulting in obstruction of the outflow tract and massive hepatocellular necrosis. Hematogenous dissemination of mucormycosis causing acute splenitis and hemorrhagic intestinal necrosis were also observed. To our knowledge, mucormycosis invasion of the central veins, sinusoids, and portal tracts by fungal hyphae resulting in a syndrome mimicking hepatic veno-occlusive disease has not been previously reported.
This indicator shows how reported Lyme disease incidence has changed by state since 1991, based on the number of new cases per 100,000 people. The total change has been estimated from the average annual rate of change in each state. This map is limited to the 14 states where Lyme disease is most common, where annual rates are consistently above 10 cases per 100,000. Connecticut, New York, and Rhode Island had too much year-to-year variation in reporting practices to allow trend calculation. For more information: www.epa.gov/climatechange/science/indicators
Kim, Hye In; Kim, Ji Won; Kim, Jun Young; Kim, Young Nam; Kim, Jin Hae; Jeong, Byeong-Ho; Chung, Myung Jin; Koh, Won-Jung
The prevalence of lung diseases caused by nontuberculous mycobacteria (NTM) is increasing worldwide. Unlike pulmonary tuberculosis, endobronchial NTM diseases are very rare with the majority of cases reported in patients with human immunodeficiency virus infection and acquired immune deficiency syndrome. We reported a rare case of endobronchial Mycobacterium avium disease associated with lobar atelectasis in a young immunocompetent patient and reviewed the relevant iterature.
Full Text Available Introduction Cat scratch disease (CSD is an infectious disease caused by the Gram-negative rod Bartonella henselae (BH. It usually leads to subacute loco-regional lymphadenitis occasionally associated with fever. In most of the cases, it resolves spontaneously within 4 - 6 weeks. However, CSD has also been associated with other atypical presentations. Case Presentation We reported a series of seven children with unusual symptoms of CSD. In particular, we described the case of a child with ptosis, miosis and enophtalmy, suggesting Horner syndrome, associated with cervical lymphadenitis. Cat scratch was mentioned in only one patient, while four of them mentioned a recent contact with cats. We reviewed and discussed the incidence of these atypical presentations of CSD as well as the therapeutic approaches recommended and the available diagnostic tools. Conclusions This paper highlighted the need to exclude CSD in children with unexplained symptoms such as prolonged fever, hepatosplenic lesion and osteomyelitis.
Huang, Angela Song-En; Shu, Pei-Yun; Yang, Chin-Hui
Zika virus infection, usually a mild disease transmitted through the bite of Aedes mosquitos, has been reported to be possibly associated with microcephaly and neurologic complications. Taiwan's first imported case of Zika virus infection was found through fever screening at airport entry in January 2016. No virus was isolated from patient's blood taken during acute illness; however, PCR products showed that the virus was of Asian lineage closely related to virus from Cambodia. To prevent Zika virus from spreading in Taiwan, the Taiwan Centers for Disease Control has strengthened efforts in quarantine and surveillance, increased Zika virus infection diagnostic capacity, implemented healthcare system preparedness plans, and enhanced vector control program through community mobilization and education. Besides the first imported case, no additional cases of Zika virus infection have been identified. Furthermore, no significant increase in the number of microcephaly or Guillain- Barré Syndrome has been observed in Taiwan. To date, there have been no autochthonous transmissions of Zika virus infection.
Reitsma, W.; Wiegman, M. J.; Damstra, R. J.
Crohn's disease is an inflammatory intestinal disease that primarily causes abdominal pain and diarrhea. We report a male patient who presented with penile and scrotal lymphedema and inguinal fistulas as the first manifestations of Crohn's disease. Extraintestinal or metastatic Crohn's disease initi
Reitsma, W.; Wiegman, M. J.; Damstra, R. J.
Crohn's disease is an inflammatory intestinal disease that primarily causes abdominal pain and diarrhea. We report a male patient who presented with penile and scrotal lymphedema and inguinal fistulas as the first manifestations of Crohn's disease. Extraintestinal or metastatic Crohn's disease
Reitsma, W.; Wiegman, M. J.; Damstra, R. J.
Crohn's disease is an inflammatory intestinal disease that primarily causes abdominal pain and diarrhea. We report a male patient who presented with penile and scrotal lymphedema and inguinal fistulas as the first manifestations of Crohn's disease. Extraintestinal or metastatic Crohn's disease initi
Tyler, Kimberly A.; Whitbeck, Les B.; Hoyt, Dan R.; Yoder, Kevin A.
Path analysis was used to investigate factors associated with self-reported sexually transmitted diseases among 569 homeless and runaway adolescents in four Midwestern states. Youth were interviewed by outreach workers directly on the streets, in shelters, and in drop-in centers. Results indicated that family abuse was positively related to substance use, affiliation with friends who sold sex, and time on own. Early family abuse indirectly increased the likelihood of self-reported sexually tr...
Pilsczek, Florian H
Infectious diseases of immigrants may differ from patients born and resident in the same country, especially if immigrants from Africa or Asia live in Europe or North America. Because the available information is limited published reports of infections of Afghan immigrants in the United States and other countries were analysed. Four reports from the US and 15 reports from other countries were identified [7, (46.7%) Pakistan, 5 (33.3%) Iran, 1 (6.7%) United Kingdom, 1 (6.7%) Germany, 1 (6.7%) Israel)]. Reports from the US were case reports or case series of infections with gastro-intestinal parasites and Mycobacterium tuberculosis (1, 25%), Echinococcus species (2, 50%), and Plasmodium vivax (1, 25%). Reports from other countries were case reports, case series, or surveys and investigated infections with Echinococcus species (2, 13%), Hepatitis B virus (HBV) (1, 6.7%), M. tuberculosis (6, 40%), P. falciparum (1, 6.7%), Leishmania tropica (3, 20%), Fasciola hepatica (1, 6.7%), and M. leprae (1, 6.7%). The reports suggest that Echinococcus species and L. tropica infections can be encountered in Afghan immigrants in the US, and the frequency of a positive PPD (purified protein derivative) response or HBsAg test was increased. An infectious diseases database specific for the country of residence readily available to clinicians treating Afghan patients outside of Afghanistan may be useful.
Ciro C. Alvear
Full Text Available Objective: to report two cases of children with type Ia glycogen storage disease compatible with Von Gierke disease, suspected in the presence of findings such as hepatomegaly, nephromegaly, hypoglycemia, and stunted growth.Method: Presentation of the clinical records of two patients referred to the diagnostic unit of innate errors of metabolism of the Faculty of Medicine in Universidad de Cartagena.Results: The first case reported was a child who debuted with acute cyanosis without widespread neurological deficit when he was eleven months old, followed by hepatomegaly at two years of age. At 4 years of age, symptoms reappeared with similar characteristics: hypoglycemia, growth failure, and persistent hepatomegaly detected on physical examination. With the precedent that an older brother that presented similar symptoms was suspected of glycogen storage disease, a biopsy was performed and confirmed liver glycogen storage with normal structure. The patient’s treatment was modification of dietary habits (small, frequent feedings during the day and cornstarch. The second event was the older brother who consulted for the first time when he was 18 months old due to prolonged diarrhea. Hepatomegaly was documented by ultrasound study without kidney compromise and no hypoglycemia was found.Recommendations: It is necessary for the entire health team to be trained to detect rare diseases such as glycogen storage disease. If they make early diagnoses and establish support groups for interdisciplinary management of such diseases, they may change the prognosis and quality of life of these children.
Ciro C. Alvear
Full Text Available Objective: to report two cases of children with type Ia glycogen storage disease compatible with Von Gierke disease, suspected in the presence of findings such as hepatomegaly, nephromegaly, hypoglycemia, and stunted growth. Method: Presentation of the clinical records of two patients referred to the diagnostic unit of innate errors of metabolism of the Faculty of Medicine in Universidad de Cartagena. Results: The first case reported was a child who debuted with acute cyanosis without widespread neurological deficit when he was eleven months old, followed by hepatomegaly at two years of age. At 4 years of age, symptoms reappeared with similar characteristics: hypoglycemia, growth failure, and persistent hepatomegaly detected on physical examination. With the precedent that an older brother that presented similar symptoms was suspected of glycogen storage disease, a biopsy was performed and confirmed liver glycogen storage with normal structure. The patient’s treatment was modification of dietary habits (small, frequent feedings during the day and cornstarch. The second event was the older brother who consulted for the first time when he was 18 months old due to prolonged diarrhea. Hepatomegaly was documented by ultrasound study without kidney compromise and no hypoglycemia was found. Recommendations: It is necessary for the entire health team to be trained to detect rare diseases such as glycogen storage disease. If they make early diagnoses and establish support groups for interdisciplinary management of such diseases, they may change the prognosis and quality of life of these children.
Conclusion: To the best of our knowledge, this patient is the oldest of reported patients diagnosed with XH. Steroid therapy may be effective to XH temporarily. XH should be considered when diagnosing pituitary cystic lesions in elderly patients with autoimmune disease.
Vogel, Asmus; Mortensen, Erik Lykke; Hasselbalch, Steen G
The study investigated if patient and informant reported Quality of Life (QoL) differed in early Alzheimer's disease (AD). In addition, we examined whether anosognosia had an impact on the agreement between patient and informant ratings of QoL and whether anosognosia, dementia severity, depression...
Two systematic reviews have evaluated the quality of research and reporting of observational studies investigating the prevalence of, the incidence of and the risk factors for peri-implant diseases and of experimental clinical studies evaluating the efficacy of preventive and therapeutic interventions.
Garnefski, Nadia; Koopman, Hendrik; Kraaij, Vivian; ten Cate, Rebecca
Objective of the study was to examine how cognitive emotion regulation strategies were related to psychological maladjustment in adolescents with a chronic disease. The sample consisted of adolescents with a diagnosis of Juvenile Idiopathic Arthritis (JIA). A self-report questionnaire was used to assess Internalizing problems and Quality of Life.…
Aletaha, D.; Landewe, R.B.; Karonitsch, T.; Bathon, J.; Boers, M.; Bombardier, C.; Bombardieri, S.; Choi, H.; Combe, B.; Dougados, M.; Emery, P.; Gomez-Reino, J.; Keystone, E.C.; Koch, G.; Kvien, T.K.; Martin-Mola, E.; Matucci-Cerinic, M.; Michaud, K.; O'Dell, J.; Paulus, H.; Pincus, T.; Richards, P.; Simon, L.; Siegel, J.; Smolen, J.S.; Sokka, T.; Strand, V.; Tugwell, P.; Heijde, D. van der; Riel, P.L.C.M. van; Vlad, S.; Vollenhoven, R. van; Ward, M.; Weinblatt, M.; Wells, G.A.; White, B.; Wolfe, F.; Zhang, B.; Zink, A.; Felson, D.T.
OBJECTIVE: To make recommendations on how to report disease activity in clinical trials of rheumatoid arthritis (RA) endorsed by the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR). METHODS: The project followed the EULAR standardized operating procedures, w
Aletaha, D.; Landewe, R.B.; Karonitsch, T.; Bathon, J.; Boers, M.; Bombardier, C.; Bombardieri, S.; Choi, H.; Combe, B.; Dougados, M.; Emery, P.; Gomez-Reino, J.; Keystone, E.C.; Koch, G.; Kvien, T.K.; Martin-Mola, E.; Matucci-Cerinic, M.; Michaud, K.; O'Dell, J.; Paulus, H.; Pincus, T.; Richards, P.; Simon, L.; Siegel, J.; Smolen, J.S.; Sokka, T.; Strand, V.; Tugwell, P.; Heijde, D. van der; Riel, P.L.C.M. van; Vlad, S.; Vollenhoven, R. van; Ward, M.; Weinblatt, M.; Wells, G.A.; White, B.; Wolfe, F.; Zhang, B.; Zink, A.; Felson, D.T.
OBJECTIVE: To make recommendations on how to report disease activity in clinical trials of rheumatoid arthritis (RA) endorsed by the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR). METHODS: The project followed the EULAR standardised operating procedures, w
van Winkelhoff, AJ; Schouten-van Meeteren, AYN; Baart, JA; Vandenbroucke-Grauls, CMJE
Background, aims: Congenital neutropenia is one condition that may predispose for destructive periodontal disease at a young age. In this report, we describe the microbiology of 3 adolescent patients with congenital neutropenia two of whom suffered from severe periodontitis. Method: Microbiological
Chindia, M L; Awange, D O; Guthua, S W; Mwaniki, D L
We report the first three patients diagnosed with focal epithelial hyperplasia (Heck's disease) in Kenya. Clinically they presented as focal or diffuse papillomatous lesions in the oral mucosa. Histopathological features rule out other similar lesions inter alia multiple fibro-epithelial and viral warts.
van Cranenburgh, O.D.
The overall aim of this thesis was to examine and integrate patient reported outcomes (PROs) in dermatological care. In part I, we specifically examined health-related quality of life (HRQoL), treatment satisfaction, and experiences with care in patients with chronic skin diseases. Our results
Schaefer, Inga-Marie; Guennel, Harald; Schweyer, Stefan; Korenkov, Michael
Background: Castleman's disease is a rare form of localized lymph node hyperplasia of uncertain etiology. Although the mediastinum is the most common site of involvement, rare cases occurring in lymph node bearing tissue of other localization have been reported, including only a few intramuscular ca
@@ THE incidence of gastroesophageal reflux disease (GERD) is high in Western nations. Its extraesophageal manifestations such as asthma, paroxysmal laryngospasm, and excessive throat phlegm, chronic cough, laryngal disorders, postnasal drip, and other lesser ear, nose, and throat symptoms, have been widely recognized and reported.
Full Text Available Blackish or orange liquid-like spots were found on (n=100 fruits of chillies (Capsicum sold in five local markets in Kota Kinabalu, Sabah, Malaysia. Colletotrichum gloeosporioides and C. capsici were identified as the causal agents of an anthracnose disease. This is the first report of Colletotrichum spp. as the causal agent of anthracnose infected chillies in Sabah.
Full Text Available Fournier's disease, a form of necrotizing fasciitis, is a rapidly progressing subcutaneous infection of the male genitalia. We report a case of Fournier's disease with the unusual etiology of a perforated duodenum. This patient suffered from progressive right scrotal swelling after percutaneous transhepatic cholangeal drainage. Scrotal exploration revealed a large abscess with muscle necrosis that had spread up to the right retroperitoneal space. Radiologic studies and second abdominal exploration documented the origin as a perforated duodenum. The pus distribution in this case suggested that the infection process differed from that in previous reports. In future cases of Fournier's disease involving previous abdominal events, we recommend that abdominal origins be carefully surveyed before scrotal exploration.
Mahendradas, Padmamalini; Avadhani, Kavitha; Ramachandran, Sarika; Srinivas, Sahana; Naik, Madhavi; Shetty, K Bhujang
A 50-year-old male was diagnosed to have a right eye sclerouveitis and left eye granulomatous anterior uveitis due to Hansen's disease. We are reporting the anterior segment optical coherence tomography (ASOCT) findings of iris granuloma in this case. Skin biopsy revealed plenty of acid fast bacilli with a bacteriological index of 5 suggestive of multibacillary polar lepromatous leprosy. ASOCT revealed well-demarcated smooth-surfaced nodular lesion with internal hyporeflectivity corresponding to the areas of granuloma which decreased in size following treatment with antileprosy drugs and systemic and topical steroids. ASOCT is a non-invasive technique to assess the extent of involvement of anterior segment in Hansen's disease and is a useful tool in follow-up. This is also the first report on ASOCT findings of iris granuloma in Hansen's disease.
Chiang, Elizabeth; Packer, Clifford D
Warm antibody autoimmune hemolytic anemia is due to the presence of warm agglutinins that react with protein antigens on the surface of red blood cells causing premature destruction of circulating red blood cells. We report the first case of concurrent reactive arthritis, Graves' disease, and autoimmune hemolytic anemia. A 40-year-old man with reactive arthritis, Graves' disease, type 2 diabetes mellitus, mitral valve prolapse, and Gilbert's disease presented with a one month history of jaundice, fatigue, and black stools. After diagnosis of warm autoimmune hemolytic anemia, the patient was started on prednisone 1 mg/kg with rapid improvement in his anemia and jaundice. Our subject's mother and possibly his maternal grandmother also had autoimmune hemolytic anemia, which raises the possibility of hereditary autoimmune hemolytic anemia, a rarely reported condition.
Roque, Ana Cristina
In the late nineteenth century, health service reports constituted a repository of information on the main diseases in Mozambique and the impacts of their frequency, as well as on the procedures and methods used to fight disease within a regional framework whose description indicates a broad knowledge of the characteristics and potentials of the various districts and of the living conditions of the people. The objective of this article is to highlight that these reports constitute a privileged source not only for the study of the process of cementing Portuguese colonial rule in Mozambique, but also for the study of tropical medicine from a perspective that takes into account the specific conditions of the region, and which provides historical information on the analysis of the problems related to disease and cure.
Paul A. Boume
Full Text Available Background: Developing countries such as Jamaica suffer increasingly from high levels of public health problems related to chronic diseases. Aims: To examine the physical health status and use a model to determine the significant predictors of poor health status of Jamaicans who reported being diagnosed with a chronic non-communicable disease. Methods and Materials: The current study extracted a sub-sample of 714 people from a larger nationally representative cross-sectional survey of 6,783 Jamaicans. A self-administered questionnaire was used to collect the data from the sample. Statistical analysis was performed using chi-square to investigate non-metric variables, and logistic regression to determine predictors of poor health status. Results: Approximately one-quarter (25.3% of the sample reported that they had poor health status. Thirty-three percent of the sample indicated unspecified chronic diseases: 7.8% arthritis, 28.9% hypertension, 17.2% diabetes mellitus and 13.3% asthma. Asthma affected 47.2% of children and 23.2% of young adults. Significant predictors of poor health status of Jamaicans who reported being diagnosed with chronic diseases were: age of respondents, area of residence and inability to work. Conclusion: Majority of the respondents in the sample had good health, and adults with poor health status were more likely to report having hypertension followed by diabetes mellitus and arthritis, while asthma was the most prevalent among children. Improvement in chronic disease control and health status can be achieved with improved patient education on the importance of compliance, access to more effective medication and development of support groups among chronic disease patients.
Paul A Boume
Full Text Available Background: Developing countries such as Jamaica suffer increasingly from high levels of public health problems related to chronic diseases. Aims : To examine the physical health status and use a model to determine the significant predictors of poor health status of Jamaicans who reported being diagnosed with a chronic non-communicable disease. Methods and Materials : The current study extracted a sub-sample of 714 people from a larger nationally representative cross-sectional survey of 6,783 Jamaicans. A self-administered questionnaire was used to collect the data from the sample. Statistical analysis was performed using chi-square to investigate non-metric variables, and logistic regression to determine predictors of poor health status. Results : Approximately one-quarter ( 25.3% of the sample reported that they had poor health status. Thirty-three percent of the sample indicated unspecified chronic diseases: 7.8% arthritis, 28.9% hypertension, 17.2% diabetes mellitus and 13.3% asthma. Asthma affected 47.2% of children and 23.2% of young adults. S ignificant predictors of poor health status of Jamaicans who reported being diagnosed with chronic diseases were: age of respondents, area of residence and inability to work . Conclusion : Majority of the respondents in the sample had good health, and adults with poor health status were more likely to report having hypertension followed by diabetes mellitus and arthritis, while asthma was the most prevalent among children. Improvement in chronic disease control and health status can be achieved with improved patient education on the importance of compliance, access to more effective medication and development of support groups among chronic disease patients.
Full Text Available Abstract Background Extraintestinal manifestations of Crohn's disease may involve the skin, the eyes, the genital mucosa, and the joints. Dermatoses associated with Crohn's disease include neutrophilic dermatoses, erythema nodosum, granulomatous dermatitis, blistering dermatoses, and non-specific skin manifestations. Cutaneous Crohn's disease is characterized by skin non-caseating epithelioid granulomatas with giant cells, remote from the gastrointestinal tract. We report herein two new cases. Observations On both patients, differential diagnosis of neutrophilic dermatoses and infectious disease were evoked, and antimicrobial agents were introduced in one of them. Given the atypical presentation, the final diagnosis of cutaneous Crohn's disease could only be made with histological examination. In patient 1, the plaques decreased in size and infiltration by more than 75% after 3 weeks of treatment with bethametasone dipropionate 0.05% cream. In patient 2, the plaques decreased by more than 50% after 6 weeks of treatment with prednisolone (45 mg/day and azathioprine (100 mg/day. Discussion Cutaneous Crohn's disease may present as dusky, erythematous, infiltrated, and ulcerated plaques and nodules. Female-to-male sex ratio is about 2, and the mean age at onset is 35. Recurrently, the hypothesis of a skin mycobacterial or fungal infection greatly delays proper treatment. Rarity of cutaneous Crohn's disease hampers therapeutic assessment in controlled trials. Thus, available literature is limited to case reports and sparse small series, with contradictory results. These reports are subject to publication bias, and no definite evidence-based recommendations can be made on the most adequate therapeutic strategy.
Full Text Available Polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes (POEMS syndrome is a multisystemic disorder that clinically manifests as paraneoplastic and monoclonal plasma cell dyscrasia. Its acronym is derived from its principal characteristics: polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes. Here, the authors reported a case of POEMS syndrome that was also associated with Castleman disease. A 53-year-old female patient was admitted to our hospital with limb weakness, numbness, edema, abdominal distention, and fever. Physical examination revealed tetraplegia, paraesthesia, and hyporeflexia in all four limbs, in addition to lymphadenectasis, splenomegaly, skin hyperpigmentation, hypertrichosis, and pitting edema. Laboratory tests and imaging revealed thrombocytosis, hypothyroidism, diabetes, hydropericardium, hydrothorax, splenomegaly, and lymphadenectasis. Electromyography showed the characteristic patterns of both demyelinating disease and axonal degeneration. Serum protein electrophoresis revealed monoclonal immunoglobulin G-lambda paraproteins. Histological examination clearly diagnosed the disease as the hyaline vascular subtype. The final diagnosis in this case was POEMS syndrome in association with Castleman disease.
Lee, Hae Won; Kang, Jin Du; Yeo, Chang Woo; Yoon, Sung Woon; Lee, Kwang Jae; Choi, Mun Ki
Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory.
Santos, Karoline Weber dos; Fraga, Bruno Francisco de; Cardoso, Maria Cristina de Almeida Freitas
The aim of this study is to report the case of a patient with Fahr's Disease in order to describe the main stomatognathic and vocal changes that can be found in individuals with this disease. In order to establish the diagnosis, an assessment of the conditions of orofacial motor system and speech production, as well the efficiency of swallowing, was realized. Based on these assessments, there were difficulties in coordinating and sustaining muscle during speech and presence of oropharyngeal dysphagia. Speech disorders found in Fahr's disease manifest themselves in complex and cover various aspects of phonological knowledge and the diseases that affect the basal ganglia have similar frames of speech-language disorders of the stomatognathic system, being able to present a picture of dysarthria.
Thani, Nova B; Bala, Arul; Kimber, Thomas E; Lind, Christopher R P
Camptocormia is characterized by abnormal flexion of the thoracolumbar spine that increases during upright posture and abates in the recumbent position and has been reported to occur in patients with Parkinson disease. Camptocormia causes significant spinal and abdominal pain, impairment of balance, and social stigma. A 57-year-old woman with Parkinson disease developed severe camptocormia, which did not improve with trials of antiparkinsonian and muscle relaxant medications. The patient was successfully treated with bilateral globus pallidus interna deep brain stimulation surgery under general anesthesia. High-frequency neuromodulation afforded relief of camptocormia and improvement in Parkinson disease symptoms. Camptocormia in Parkinson disease may represent a form of dystonia and can be treated effectively with chronic pallidal neuromodulation.
Yongxi SONG; Zhenning WANG; Huimian XU; Zhenyu YUE; Chengzhong XING
Paget's disease of the breast is an uncommon disorder that accounts for 1% to 3% of all mammary tumors. The incidence of underlying carcinoma associated with Paget's disease has been re-ported in 82% to 100% of cases. The finding of underlying carcinoma reaches almost 100% when a palpable lump is also present. In this rare case, we described a patient presenting with Paget's disease but no palpable lump. However, we found 11 independent regions which were all invasive ductal carci-noma after the operation. Considering this patient, we should pay more attention to a multifocal and multicentric breast carcinoma associated with Paget's disease. Furthermore, we believe the mammog-raphy examination and a modified radical mastectomy are the most appropriate treatments for this population in clinical practice.
Baltzer, Heather L; Riester, Scott; Moran, Steven L
Background: The etiology of multifocal osteonecrosis is not definitively known; however, hypercoagulable state is a very plausible cause. Methods: We present an unusual case of a 12-year-old boy with a history of Legg-Calve-Perthes disease presenting with right wrist pain who was subsequently diagnosed with Kienbock's disease. The finding of multifocal osteonecrosis prompted testing for a hypercoagulable state that was positive for Factor V Leiden thrombophilia. A thorough literature review using Medline database was conducted to investigate associations between inherited hypercoagulable states and multifocal osteonecrosis. Results: Our literature review identified 2 similar cases of multifocal osteonecrosis associated with a hypercoagulable disorder in adult patients. There were no reports among the pediatric patient population. Meta-analysis has demonstrated a potential link between Legg-Calve-Perthes disease and Factor V Leiden thrombophilia. Conclusions: This study offers further evidence to support the theory that multifocal osteonecrosis may be linked to a hypercoagulable state. Patients presenting with multifocal osteonecrosis should undergo screening for hypercoagulable states. Further investigation is needed to ascertain the potential benefit of prophylactic anticoagulation in patients with a known hypercoagulable state and multifocal osteonecrosis.
Ren, Shou-Chen; Gao, Bao-Qin; Yang, Wei-Li; Feng, Wei-Xin; Xu, Jian; Li, Shao-Wu; Wang, Yong-Jun
The present study reported the case of a Chinese boy who was diagnosed with Moyamoya disease (MMD) associated with Graves' disease (GD). An overactivation of von Willebrand factor (vWF) and coagulation factor VIII (FVIII) was identified in the plasma of the patient. Thiamazole and metoprolol treatment was thus administrated. After 2 months of treatment, the patient's thyroid function returned to normal and the neurological symptoms improved gradually. At the same time, the activities of vWF and FVIII were depressed. During the 20-month follow-up, information regarding the neurological symptoms, cerebrovascular imaging, thyroid function, thyroid autoantibodies and coagulation parameters was collected. High levels of thyroid autoantibodies persisted throughout the follow-up period, while other coagulation parameters remained in the normal range. In conclusion, considering the vital role of vWF and FVIII in vascular diseases, it is hypothesized that these two factors may serve an important role in the occurrence of GD associated with MMD. PMID:27882137
Full Text Available Abstract Background Demyelinating diseases cause destruction of the myelin sheath, while axons are relatively spared. Pathologically, demyelination can be the result of an inflammatory process, viral infection, acquired metabolic derangement and ischemic insult. Three diseases that can cause inflammatory demyelination of the CNS are: Multiple sclerosis (MS, Acute disseminated encephalomyelitis (ADEM and Acute hemorrhagic leucoencephalitis. Differentiation is not always easy and there is considerable overlaping. Data about adults with acute demyelination requiring ICU admission is limited. Case presentation A 17 year old Greek female was hospitalised in the ICU because of acute respiratory failure requiring mechanical ventilation. She had a history of febrile disease one month before, acute onset of paraplegia, diplopia, progressive arm weakness and dyspnea. Her consciousness was not impaired. A demyelinating central nervous system (CNS disease, possibly post infectious encephalomyelitis (ADEM was the underlying condition. The MRI of the brain disclosed diffused expanded cerebral lesions involving the optic nerve, basal ganglia cerebellum, pons and medulla oblongata. There was also extended involvement of the cervical and thoracic part of the spinal cord. CSF leukocyte count was elevated with lymphocyte predominance. The patient required mechanical ventilation for two months. Then she was transferred to a rehabilitation centre. Three years later she remains paraplegic. Since then she has not suffered any other demyelination attack. Conclusions Demyelinating diseases can cause acute respiratory failure when the spinal cord is affected. Severe forms of these diseases, making necessary ICU admission, is less frequently reported. Intensivists should be aware of the features of these rare diseases.
Full Text Available Abstract Introduction Celiac disease and cystic fibrosis have many common manifestations, such as malabsorption, steatorrhea and growth failure, and were for many years recognized as one clinical entity. Since their recognition as two separate diseases, their co-existence in a patient has been described sporadically; around 20 cases have been described in the literature. Taking into consideration the incidences of the two diseases, the chance of them occurring together is one in 2,000,000 in the general population. Case presentation We describe the case of a five-year-old boy of Turkish ethnicity with both celiac disease and cystic fibrosis, who presented initially with a skin hemorrhage. The diagnosis of celiac disease was made with a positive serum anti-tissue transglutaminase antibody test and the presence of HLA-DQ2 heterodimer, and confirmed on histology with small intestinal villous atrophy. A positive sweat test confirmed the diagnosis of associated cystic fibrosis. To the best of our knowledge there has been no previous report of this rare presentation of associated celiac disease and cystic fibrosis. Conclusion The clinical significance of this case is the consideration of malabsorption with both celiac disease and cystic fibrosis in patients who present with unexplained coagulopathy.
Narayana Gowda, BS; Mohan Kumar, J; Basim, Praveen Kumar
Introduction: Hirayama's disease is a rare benign disorder, also referred to as monomelic amyotrophy (MMA), Juvenile non progressive amyotrophy, Sobue disease. It is a focal, lower motor neuron type of disease. Mainly young males in their second and third decades of age are most commonly affected. It is seen most commonly in Asian countries like India and Japan. In majority of people cause of this disease is unknown. MRI of cervical spine in flexion will reveal the cardinal features of Hirayama disease. Case Report: A 22 year gentleman came with a history of insidious onset of weakness in both the hands begenning with left side followed by right of 4 years duration. On examination he had clawing of both hands with wasting of forearm muscles. Lower limbs had no abnormality with normal deep tendon reflexes. MRI showed thinning of cord from C4 to C7 level suggestive of cord atrophy. Based on these features a diagnosis of focal amyotrophy was made. A cervical collar was prescribed and patient is under regular follow up. Conclusion: Hirayama disease is a rare self-limiting disease. Early diagnosis is necessary as the use of a simple cervical collar which will prevent neck flexion, has been shown to stop the progression PMID:27298910
de Zoeten, Edwin F; Pasternak, Brad A; Mattei, Peter; Kramer, Robert E; Kader, Howard A
Inflammatory bowel disease is a chronic inflammatory disorder of the gastrointestinal tract that includes both Crohn disease (CD) and ulcerative colitis. Abdominal pain, rectal bleeding, diarrhea, and weight loss characterize both CD and ulcerative colitis. The incidence of IBD in the United States is 70 to 150 cases per 100,000 individuals and, as with other autoimmune diseases, is on the rise. CD can affect any part of the gastrointestinal tract from the mouth to the anus and frequently will include perianal disease. The first description connecting regional enteritis with perianal disease was by Bissell et al in 1934, and since that time perianal disease has become a recognized entity and an important consideration in the diagnosis and treatment of CD. Perianal Crohn disease (PCD) is defined as inflammation at or near the anus, including tags, fissures, fistulae, abscesses, or stenosis. The symptoms of PCD include pain, itching, bleeding, purulent discharge, and incontinence of stool. In this report, we review and discuss the etiology, diagnosis, evaluation, and treatment of PCD.
Full Text Available Abstract Background Castleman's disease is a rare form of localized lymph node hyperplasia of uncertain etiology. Although the mediastinum is the most common site of involvement, rare cases occurring in lymph node bearing tissue of other localization have been reported, including only a few intramuscular cases. Unicentric and multicentric Castleman's disease are being distinguished, the latter harboring an unfavorable prognosis. Case Presentation Here, we present a case of unicentric Castleman's disease in a 37-year-old woman without associated neoplastic, autoimmune or infectious diseases. The lesion was located in the femoral region of the right lower extremity and surgically resected after radiographic workup and excisional biopsy examinations. The tumor comprised lymphoid tissue with numerous germinal centers with central fibrosis, onion-skinning and rich interfollicular vascularization. CD23-positive follicular dendritic cells were detected in the germinal centers and numerous CD138-positive plasma cells in interfollicular areas. The diagnosis of mixed cellularity type Castleman's disease was established and the patient recovered well. Conclusions In conclusion, the differential diagnosis of Castleman's disease should be considered when evaluating a sharply demarcated, hypervascularized lymphatic tumor located in the extremities. However, the developmental etiology of Castleman's disease remains to be further examined.
Chou, Roger; Bougatsos, Christina; Blazina, Ian; Mackey, Katherine; Grusing, Sara; Selph, Shelley
Silent or subclinical celiac disease may result in potentially avoidable adverse health consequences. To review the evidence on benefits and harms of screening for celiac disease in asymptomatic adults, adolescents, and children 3 years and older for the US Preventive Services Task Force. Ovid MEDLINE, Cochrane Central Register of Controlled Trials, and Cochrane Database of Systematic Reviews, searched to June 14, 2016. Randomized clinical trials and cohort or case-control studies on clinical benefits and harms of screening vs no screening for celiac disease or treatment vs no treatment for screen-detected celiac disease; studies on diagnostic accuracy of serologic tests for celiac disease. One investigator abstracted data, a second checked data for accuracy, and 2 investigators independently assessed study quality using predefined criteria. Cancer incidence, gastrointestinal outcomes, psychological outcomes, child growth outcomes, health outcomes resulting from nutritional deficiencies, quality of life, mortality, and harms of screening. No meta-analytic pooling was done. One systematic review and 3 primary studies met inclusion criteria. No trials of screening for celiac disease were identified. One recent, good-quality systematic review of 56 original studies and 12 previous systematic reviews (sample sizes of primary studies ranging from 62 to more than 12 000 participants) found IgA tissue transglutaminase was associated with high accuracy (sensitivity and specificity both >90%) for diagnosing celiac disease. IgA endomysial antibodies tests were associated with high specificity. Only 2 studies of serologic tests for celiac disease involving 62 and 158 patients were conducted in asymptomatic populations and reported lower sensitivity (57% and 71%). One fair-quality, small (n = 40) Finnish treatment trial of asymptomatic adults with screen-detected celiac disease based on positive serologic findings found initiation of a gluten-free diet associated with
Yang, Mei-Li; Kuo, Mei-Chuan; Ou, Tsan-Teng; Chen, Hung-Chun
Glomerular involvement in patients with primary Sjögren's syndrome (pSS) has rarely been reported. Among them, membranoproliferative glomerulonephritis and membranous nephropathy are the more common types. We report a middle-aged female presenting concurrently with nephrotic syndrome and microscopic hematuria, and her pSS was diagnosed by positive anti-Ro (SSA)/anti-La (SSB) autoantibodies, dry mouth, severely diffuse impaired function of both bilateral parotid and submandibular glands, and a positive Schirmer test. Renal pathology revealed minimal change disease and thin basement membrane nephropathy. The patient's nephrotic syndrome resolved after treatment with corticosteroids. To our knowledge, this is the first report of minimal change disease in a patient with pSS.
Demet Özbabalık Adapınar
Full Text Available Variant Creutzfeldt-Jakob disease (vCJD was first reported in the UK in 1996. Here, we report the first Turkish case of vCJD. A 47-year-old man, who has never lived outside of Turkey and had had no transfusion, was admitted to the University Hospital with speech disorder, cognitive decline and ataxia following depression, irritability, and personality change. The immunoassay of the 14-3-3 protein in the cerebrospinal fluid was negative. Brain magnetic resonance imaging revealed high-signal lesions involving the bilateral caudate and lentiform nucleus on T2- and diffusion-weighted imaging. The patient developed akinetic mutism 10 months after disease onset. The clinical presentation and neuroimaging findings were compatible with the vCJD cases reported since 1996 and met the World Health Organization’s case definition for probable vCJD.
Li, Fuzhong; Harmer, Peter; Liu, Yu; Eckstrom, Elizabeth; Fitzgerald, Kathleen; Stock, Ronald; Chou, Li-Shan
A previous randomized, controlled trial of tai chi showed improvements in objectively measured balance and other motor-related outcomes in patients with Parkinson's disease. This study evaluated whether patient-reported outcomes could be improved through exercise interventions and whether improvements were associated with clinical outcomes and exercise adherence. In a secondary analysis of the tai chi trial, patient-reported and clinical outcomes and exercise adherence measures were compared between tai chi and resistance training and between tai chi and stretching exercise. Patient-reported outcome measures were perceptions of health-related benefits resulting from participation, assessed by the Parkinson's Disease Questionnaire (PDQ-8) and Vitality Plus Scale (VPS). Clinical outcome measures included motor symptoms, assessed by a modified Unified Parkinson's Disease Rating Scale-Motor Examination (UPDRS-ME) and a 50-foot speed walk. Information on continuing exercise after the structured interventions were terminated was obtained at a 3-month postintervention follow-up. Tai chi participants reported significantly better improvement in the PDQ-8 (-5.77 points, P = 0.014) than did resistance training participants and in PDQ-8 (-9.56 points, P tai chi, patient-reported improvement in the PDQ-8 and VPS was significantly correlated with their clinical outcomes of UPDRS-ME and a 50-foot walk, but these correlations were not statistically different from those shown for resistance training or stretching. However, patient-reported outcomes from tai chi training were associated with greater probability of continued exercise behavior than were either clinical outcomes or patient-reported outcomes from resistance training or stretching. Tai chi improved patient-reported perceptions of health-related benefits, which were found to be associated with a greater probability of exercise adherence. The findings indicate the potential of patient perceptions to drive exercise
D. Y. Talukder
Full Text Available Introduction. We report a rare presentation of Castleman's disease in a hepatitis C-positive patient and present a short review of treatments described in other similar case reports and studies. Case Presentation. A 46-year-old male with untreated hepatitis C and a 16-year history of intravenous drug use presented with pleuritic chest pain and bony pain in the knee, hip, and lower back, on a background of unexplained weight loss of 40 kilograms, fevers, night sweats, and repeated infections over the last two years. Examination discovered tender hepatomegaly, a warm right knee effusion, and painless lymphadenopathy. The patient was reactive to Epstein Barr virus and cytomegalovirus; however, HIV and HHV-8 viral testing was negative. Osteomyelitis of vertebrae T8–T11 and septic arthritis of the knee were found on investigation. A lymph node biopsy revealed histology suggestive of plasmacytic Castleman's disease. The patient is to commence rituximab treatment. Conclusion. Castleman's disease continues to present in novel ways, which may lead to difficulties in clinicopathologic diagnosis. A growing body of evidence suggests larger studies are required to determine the best treatment for multicentric Castleman's disease, particularly in patients with a concomitant disease, including hepatitis C.
Full Text Available Bin Zhang,1,2,* Yuying Zhao,1,3,* Junling Liu,1,4 Ling Li,1 Jingli Shan,1 Dandan Zhao,1 Chuanzhu Yan1,3 1Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 2Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, 3Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute, Shandong University, Jinan, Shandong, 4Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong, People’s Republic of China *These authors contributed equally to this work Abstract: Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood. Keywords: Pompe disease, glycogen storage disease II, acid maltase, acid alpha-glucosidase, cerebrovascular disorders
Talukder, D. Y.; Delpachitra, S. N.
Introduction. We report a rare presentation of Castleman's disease in a hepatitis C-positive patient and present a short review of treatments described in other similar case reports and studies. Case Presentation. A 46-year-old male with untreated hepatitis C and a 16-year history of intravenous drug use presented with pleuritic chest pain and bony pain in the knee, hip, and lower back, on a background of unexplained weight loss of 40 kilograms, fevers, night sweats, and repeated infections over the last two years. Examination discovered tender hepatomegaly, a warm right knee effusion, and painless lymphadenopathy. The patient was reactive to Epstein Barr virus and cytomegalovirus; however, HIV and HHV-8 viral testing was negative. Osteomyelitis of vertebrae T8–T11 and septic arthritis of the knee were found on investigation. A lymph node biopsy revealed histology suggestive of plasmacytic Castleman's disease. The patient is to commence rituximab treatment. Conclusion. Castleman's disease continues to present in novel ways, which may lead to difficulties in clinicopathologic diagnosis. A growing body of evidence suggests larger studies are required to determine the best treatment for multicentric Castleman's disease, particularly in patients with a concomitant disease, including hepatitis C. PMID:21577263
Ozaki, Saya; Inoue, Akihiro; Miyazaki, Hajime; Onoue, Shinji; Ichikawa, Haruhisa; Fukumoto, Shinya; Iwata, Shinji; Kohno, Kanehisa
Adult unilateral moyamoya disease with intracranial aneurysm is frequently reported in the literature, but there is much variation in its treatment. In this case report, we describe the time course and treatment regimen of a patient with moyamoya disease and review the literature regarding moyamoya disease with intracranial aneurysm. A 64-year-old man had untreated intracranial aneurysm and unilateral moyamoya disease for 10 years. He presented with sudden-onset right hemiparesis and aphasia due to a subcortical hemorrhage. He was admitted to the local neurosurgical unit, and upon resolution of symptoms, he was admitted to our hospital. A cerebral angiogram revealed the champagne bottleneck sign of the left carotid artery and obliteration of the top of the left intracranial carotid artery with a moyamoya phenomenon. Two unruptured intracranial aneurysms were identified in the anterior communicating artery(Acom A) and the right intracranial carotid artery(C3). We performed superficial temporal artery-middle cerebral artery anastomosis followed by aneurysmal neck clipping of the Acom A aneurysm. Postoperative imaging showed no new ischemic damage and improved cerebral blood flow. Although the patient experienced temporal worsening of aphasia, his function recovered a few months later and he was able to resume his normal daily life activities. The combination of direct bypass surgery and aneurysmal neck clipping might be a therapeutic option for hemorrhagic unilateral moyamoya disease with unruptured intracranial aneurysm.
Toelen, C; Huyghe, M
Gallstone ileus is a rare complication of cholelithiasis. Only 0,3-0,5% of all patients with gallstones will eventually suffer from this condition. It is well known that there is an increased prevalence of gallstones among patients with Crohn's disease, but gallstone ileus remains even in these patients an unfrequent condition. Because of the rarity of this disease and its presentation as an intestinal (sub)obstruction, mostly without biliary symptoms, diagnosis and surgical treatment are often delayed. We report the case of a 75-year-old woman with a long history of Crohn's disease presenting with intermittent symptoms of intestinal obstruction since several weeks. Symptoms were thought to be due to recurrence of Crohn's disease, but the patient did not respond to steroid therapy. Resection of the diseased ileocolic segment was performed and a large impacted stone was detected proximal of the stenotic segment. With this case report we want to emphasize how easily diagnosis of gallstone ileus can be missed, especially in Crohn's patients and we would like to discuss the different treatment options.
Zarshenas, Mohammad M; Farrokhi, Ratin Ranjbar; Akhavein, Mahshad; Kiafar, Mohammad Reza
Regarding limited effectiveness of many hepatic medical approaches, seeking for novel treatment strategies is crucial to improve outcomes. Hence, the current study aims to compile a concise but critical review over reported liver diseases and related medicinal plants from the Persian medicine perspectives. To this end, five main pharmaceutical manuscripts of Persian medicine from 9th-18th A.D. as well as the latest and largest medical textbook of Persian medicine were studied. By searching through databases such as PubMed and ScienceDirect, mechanisms or pharmacological activities of reported medicinal plants in the field of liver diseases were cited and discussed. In all, seventeen different liver diseases, mainly chronic, were cited in Persian medicine. Ninety three medicinal plants with liver tonic, hepatoprotective and related effectiveness belonging to 49 families were derived and authenticated from these studied manuscripts. More than 75% of the herbs showed related hepatoprotectivity and antioxidant activities. However, none of them have been examined clinically. Besides historical clarification, the current investigation compiled an evidence- based study on reported liver herbal remedies from the standpoints of Persian scholars. Conducting attributable clinical trials against the backdrops of proven in vitro and in vivo studies may result in new treatment discoveries for liver diseases.
Assimakopoulos Stelios F
Full Text Available Abstract Introduction Lymphadenopathy is found in about 65% of patients with adult-onset Still’s disease and is histologically characterized by an intense, paracortical immunoblastic hyperplasia. Adult-onset Still’s disease has not been previously described as an etiology of suppurative necrotizing granulomatous lymphadenitis. Case presentation We describe a 27-year-old Greek man who manifested prolonged fever, abdominal pain, increased inflammatory markers, episodic skin rash and mesenteric lymphadenopathy histologically characterized by necrotizing granulomatous adenitis with central suppuration. Disease flares were characterized by systemic inflammatory response syndrome with immediate clinico-laboratory response to corticosteroids but the patient required prolonged administration of methylprednisolone at a dose of above 12mg/day for disease control. After an extensive diagnostic work-up, which ruled out any infectious, malignant, rheumatic or autoinflammatory disease the patient was diagnosed as having adult-onset Still’s disease. The patient is currently treated with 4mg of methylprednisolone, 100mg of anakinra daily and methotrexate 7.5mg for two consecutive days per week and exerts full disease remission for six months. Conclusion To the best of our knowledge this is the first report of suppurative necrotizing granulomatous lymphadenitis attributed to adult-onset Still’s disease. This case indicates that the finding of a suppurative necrotizing granulomatous lymphadenitis should not deter the consideration of adult-onset Still’s disease as a potential diagnosis in a compatible clinical context; however, the exclusion of other diagnoses is a prerequisite.
Canestaro, W J; Edwards, T C; Patrick, D L
New therapeutics are moving into phase 3 clinical trials for the treatment of coeliac disease, a condition with no established therapies other than gluten-free diet. These trials will require a meaningful, validated and fit for purpose patient-reported outcome measure (PROM) to quantify the symptomatic improvement of patients. To evaluate existing PROMs for suitability in a Food and Drug Administration (FDA) approval trial for a coeliac disease therapeutic. We performed a systematic search in five online databases (MedLine, EmBase, Web of Science, CENTRAL, CINAHL) for studies that enrolled patients with coeliac disease and used PROMs. Studies included in this review had to measure some PROM concept, be patient administered and based upon a previously validated instrument with published measurement properties. Our literature search identified 2706 unique records of which 199 ultimately qualified for abstraction. The majority of PROMs used in studies of coeliac disease was generic and did not measure numerous symptoms or concerns of interest to patients. Four PROMs were found to contain appropriate content for use in an FDA trial: the coeliac disease-specific modification of the Gastrointestinal Symptoms Rating Scale (CeD-GSRS), Psychological General Well-Being Index (PGWB), the Celiac Disease Symptom Diary (CDSD) and the Celiac Disease Patient Reported Outcome (CeD-PRO). The GSRS and PGWB are most often used together and are two of the most extensively used measures in coeliac disease. The CDSD and CeD-PRO were developed exclusively for trials in coeliac disease but have much less published information on their measurement properties. While we did not find PROMs that currently meet the stated expectations of the FDA for regulatory purposes, four PROMs (CeD-GSRS, PGWB, CDSD and CeD-PRO) appear to contain appropriate content and with modest additional validation work could meet scientific standards for valid and sensitive measures of disease and treatment outcome
Full Text Available Castleman disease is an extremely rare benign lymphoproliferative disorder of unknown etiology. It affects the lymphatic chain in anybody region, although the commonest site is the mediastinum. The head and neck region is the second most common site; however, the salivary glands are rarely affected. We report a case of a 29-year-old Asian lady who presented with a 2-year history of an enlarging left parotid mass. Histopathology of the excisional biopsy confirmed the diagnosis of Castleman disease.
Ayala, F; Badui, E; Murillo, H; Almazán, A; Madrid, R; Solorio, S; Verdín, R; Monroy, V
The authors report a case of a 54-year-old white male with a coronary fistula associated with double mitral valve disease. The patient was studied by invasive and non-invasive cardiac methods including coronary angiogram in order to reach the correct diagnosis and to define the successful surgical treatment that included the closure of the fistula, partial resection of the left atrium and insertion of a mechanical mitral valve prosthesis. It is concluded that this case represents a very rare association between coronary fistula and double mitral valve disease.
Akbulut, Sami; Demircan, Firat; Sogutcu, Nilgun
Hydatid cyst disease may develop in any organ of the body, most frequently in the liver and lung, but occasionally can affect other organs such as the thyroid gland. Although the prevalence of thyroidal cyst disease varies by region, literature data suggest that it ranges between 0% and 3.4%. The aim of this report was to share 2 cases with thyroid hydatid cyst. Two female patients aged 26 and 57 years were admitted to our outpatient clinic with different complaints. While the first case pres...
Full Text Available Introduction. A possible association between lung cancer and bullous lung disease has been suggested and recently supported by the results of genetic studies. Case report. A previously healthy 43-year-old man, smoker, was diagnosed with bullous lung disease at the age of 31 years. He was followed up for 12 years when lung cancer (adenocarcinoma was found at the site. In the meantime, he was treated for recurrent respiratory infections. Conclusion. There is the need for active approach in following up the patients with pulmonary bulla for potential development of lung cancer.
The purpose of this report is to present a case on John, an 82 year old man with Alzheimer's disease, who resides in a dementia specific unit of a nursing home. People with dementia who require institutional care are often at risk of social isolation, due to the regressive nature of the disease, and the potential of developing behavioural disturbances. This case story demonstrates how group music therapy can be individually tailored to meet the needs of people with dementia who are socially i...
Koti, Kalyan; Thumma, Rayapa Reddy; Nagarajan, Swathanthra; Mathi, Atchyuta
Evans syndrome is a rare combination of autoimmune hemolytic anemia and immune thrombocytopenia. Their association with autoimmune thyroid diseases has been reported by few authors; however, a sequential development of the Evans syndrome in cases of Hashimoto's thyroiditis is extremely rare. The clustering of these autoimmune diseases might share a common pathogenic pathway. We present the fourth such case in world literature, of a 34-year-old female diagnosed with Hashimoto's thyroiditis in 2006, who has been taking synthetic thyroid hormone since then. Her condition is now clinically complicated with the development of the Evans syndrome.
Kulkarni, Shilpa D; Sayed, Rafat; Garg, Meenal; Patil, Varsha A
Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations. Copyright © 2015 Elsevier B.V. All rights reserved.
GONG Jing-shan; XU Jian-min
@@ Von Hippel-Lindau (VHL) disease is an autosomal-dominant hereditary familial neoplasm syndrome characterized by development of a variety of benign and malignant tumors in multiple organ systems, such as the brain, kidney, pancreas, adrenal gland, and epididymis, with a prevalence of one in 39000-53000.1-4 Hallmarks of the condition include retinal angiomas, hemangioblastomas of the cerebellum and the spinal cord, renal cell carcinoma and cysts, and pheochromocytomas. In this article, we report imaging findings in three cases of VHL disease.
Mautalen, C A; Kvicala, R; Perriard, D; Bugnard, E; Rossi, E; Duhart, J
A patient in whom hypoparathyroidism developed as a complication of posttransfusional iron storage disease is described. The hypoparathyroidism occurred after more than 15 years of receiving blood transfusions at frequent intervals. In this patient with thalassemia major the serum PTH levels were undetectable. 25-hydroxy-vitamin D3 corrected the hypocalcemia that was resistant to vitamin D2, probably due to the associated liver dysfunction. Other cases reported in the literature are reviewed. It is suggested that hypoparathyroidism occurs more frequently than usually suspected in patients with iron storage disease.
Sheeladevi, C S; Suchitha, S; Manjunath, G V; Murthy, Srinivas
The Rhesus (Rh) blood group is one of the most complex blood groups known in humans. It has remained of primary importance in obstetrics, being the main cause of hemolytic disease of the newborn (HDN). Anti-D causes the most severe form of HDN. Other Rh allo antibodies that are capable of causing severe HDN include anti-c, which clinically is the most important Rh antigen after the D antigen. We report a case of hemolytic disease of the newborn due to Rh anti-c in an infant of an Rh positive mother.
The Rhesus (Rh) blood group is one of the most complex blood groups known in humans. It has remained of primary importance in obstetrics, being the main cause of hemolytic disease of the newborn (HDN). Anti-D causes the most severe form of HDN. Other Rh allo antibodies that are capable of causing severe HDN include anti-c, which clinically is the most important Rh antigen after the D antigen. We report a case of hemolytic disease of the newborn due to Rh anti-c in an infant of an Rh positive ...
Rogério Martins Amorim
Full Text Available The present paper aims to report cases of equine motor neuron disease in different breeds and ages. The main clinical signs were progressive weight loss, muscle atrophy, generalized weakness, muscle fasciculation and trembling, frequent shifting of support hindlimbs, feet under body, excessive recumbency and death. Clinical diagnosis was confirmed by histopathological studies of the spinal cord, which revealed degeneration and loss of neurons in the ventral horn, particularly cervical and lumbar intumescence. Muscle biopsy revealed neuromuscular disorders with denervation atrophy. The progressive muscle atrophy, weakness and motor neuron degeneration are similar to those in amyotrophic lateral sclerosis, or Lou Gehrig’s disease, as described in human beings.
Full Text Available The purpose of this report is to present a case on John, an 82 year old man with Alzheimer's disease, who resides in a dementia specific unit of a nursing home. People with dementia who require institutional care are often at risk of social isolation, due to the regressive nature of the disease, and the potential of developing behavioural disturbances. This case story demonstrates how group music therapy can be individually tailored to meet the needs of people with dementia who are socially isolated as a result of behavioural challenges, including aggressive and agitating behaviours, and therefore improve the quality of the person's life.
Wolldridge, J.; Zuncih, J. [Indiana University School of Medicine, Gary, IN (United States)
We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv (9qh+), while the father`s was 46,XY. At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient`s birth. Severe psychomotor retardation was also noted. Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reported since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. 39 refs., 4 figs., 2 tabs.
Yukawa, Keiko; Yamazaki, Yoshihiko; Yonekura, Yuki; Togari, Taisuke; Abbott, Fusae K; Homma, Mieko; Park, Minjeong; Kagawa, Yumi
This is the preliminary report of a study to evaluate the effectiveness of the Chronic Disease Self-management Program in Japan by comparing changes in health outcomes at the baseline and 3-month and 6-month follow-ups. The program is a patient-centered educational program for the self-management of chronic conditions. The study's participants were recruited from among the attendees of the program workshops. During the study period (August 2006 to May 2007), 18 workshops were held and 128 attendees agreed to participate in the study. The health outcomes that were measured included health status, self-management behaviors, utilization of health services, self-efficacy, satisfaction with daily living, and clinical indicators. These indicators were further analyzed by disease type: diabetes, rheumatic disease, and cardiovascular disease/dyslipidemia. The findings indicated statistically significant positive changes in health distress, coping with symptoms, stretching exercises, communication with the physician, and satisfaction with daily living. The positive changes were especially remarkable among the groups with diabetes and rheumatic disease. These findings suggest that the Chronic Disease Self-management Program can be effective for Japanese people with chronic conditions.
Grover, Sandeep; Sarkar, Siddharth; Jhanda, Soumya; Chawla, Yogesh
Neuropsychiatric manifestations are common in Wilson's disease and mainly include extrapyramidal and cerebellar symptoms. Presentations with psychotic symptoms have been described less frequently. In this report we present the case of a young boy with Wilson's disease who developed psychotic symptoms. A 12-year-old boy was diagnosed with Wilson's disease on the basis of the physical examination findings and low ceruloplasmin levels (8.1 mg/dl). After 2 weeks of being diagnosed with Wilson's disease, he developed an acute onset illness, characterized by delusion of persecution, fearfulness, hypervigilence and decreased sleep. These symptoms were not associated with any confusion, clouding of consciousness, hallucinations and affective symptoms. There was no past or family history of psychosis. One week after the onset of the symptoms he was prescribed tab penicillamine, initially 250 mg/day, which was increased to 500 mg/day after 3 days. After increase in the dose of penicillamine, his psychiatric symptoms worsened and led to hospitalization. A diagnosis of organic delusional disorder (F06.2) due to Wilson's disease was considered. Tab risperidone 1 mg/day was started, and the dose of penicillamine was reduced with which symptoms resolved. Whenever a young adolescent develops psychosis, especially of delusional type, the possibility of Wilson's disease must be considered.
Florens, N; Lemoine, S; Guebre-Egziabher, F; Valour, F; Kanitakis, J; Rabeyrin, M; Juillard, L
There are only few cases of renal pathology induced by Lyme borreliosis in the literature, as this damage is rare and uncommon in humans. This patient is the first case of minimal change glomerular disease associated with chronic Lyme borreliosis. A 65-year-old Caucasian woman was admitted for an acute edematous syndrome related to a nephrotic syndrome. Clinical examination revealed violaceous skin lesions of the right calf and the gluteal region that occurred 2 years ago. Serological tests were positive for Lyme borreliosis and skin biopsy revealed lesions of chronic atrophic acrodermatitis. Renal biopsy showed minimal change glomerular disease. The skin lesions and the nephrotic syndrome resolved with a sequential treatment with first ceftriaxone and then corticosteroids. We report here the first case of minimal change disease associated with Lyme borreliosis. The pathogenesis of minimal change disease in the setting of Lyme disease is discussed but the association of Lyme and minimal change disease may imply a synergistic effect of phenotypic and bacterial factors. Regression of proteinuria after a sequential treatment with ceftriaxone and corticosteroids seems to strengthen this conceivable association.
Imai, Kazuo; Maeda, Takuya; Sayama, Yusuke; Osa, Morichika; Mikita, Kei; Kurane, Ichiro; Miyahira, Yasushi; Kawana, Akihiko; Miura, Sachio
Due to the unprecedented recent increases in global migration, Chagas disease has become a global health threat and its epidemiology has drastically changed. Here we describe the first case in Japan of benznidazole treatment for chronic Chagas disease characterized by advanced cardiac complications. A 55-year-old Japanese-Brazilian woman who had previously presented with chronic heart failure was diagnosed as having Chagas disease and treated with benznidazole to prevent aggravation of her cardiac complications. However, benznidazole administration was stopped on day 56 due to severe drug-induced peripheral neuritis. Sixteen months later, her serologic test for Trypanosoma cruzi is still positive and she is being followed regularly by cardiology. Despite an estimated prevalence of over 4000 cases in Japan, only a few cases of Chagas disease have been reported. A Medline search revealed only 7 cases identified between 1995 and 2014 in Japan: in 6 cases, complications of chronic Chagas disease were apparent at the time of presentation, and sudden death occurred in 2 of these cases due to cardiac complications. This clinical case and literature review re-emphasize the urgent need to establish a surveillance network and improve the diagnostic methods and treatment framework for Chagas disease in Japan. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Full Text Available Background: Creutzfeldt-Jakob disease (C-JD is a rare disorder characterized with rapidly progressive mental decline, myoclonic jerk and finally death. The transmissible pathogen for this disease is a proteinaceous infectious particle termed prion. The prion protein is encoded by a gene (designated as PRNP on the short arm chromosome 20.This disorder is diagnosed based on clinical findings, course of disease, EEG, MRI and confirmed with brain biopsy. Case report: A 56- year- old woman presented with confusion, disorientation, hyper somnolence, psychiatric problems such as hallucination, progressive mental deterioration and myoclonic jerks. She had history of several times phlebotomy with traditional and non sterile methods in two past years. She had no past history of other disease. Her illness was diagnosed based on clinical findings, course of her illness, typical MRI, EEG and rule out other dementing disease. She died after one month. Conclusion: in any patients with psychiatric disorders, rapidly progressive mental deterioration and myoclonic jerks C-JD should be considered as an important diagnosis. Treatable dementing disease should be considered and ruled out at first. The significance of phlebotomy in C-JD has yet to be determined.
Dumont, Y; Tchuenche, J M
Chikungunya is an arthropod-borne disease caused by the Asian tiger mosquito, Aedes albopictus. It can be an important burden to public health and a great cause of morbidity and, sometimes, mortality. Understanding if and when disease control measures should be taken is key to curtail its spread. Dumont and Chiroleu (Math Biosc Eng 7(2):315-348, 2010) showed that the use of chemical control tools such as adulticide and larvicide, and mechanical control, which consists of reducing the breeding sites, would have been useful to control the explosive 2006 epidemic in Réunion Island. Despite this, chemical control tools cannot be of long-time use, because they can induce mosquito resistance, and are detrimental to the biodiversity. It is therefore necessary to develop and test new control tools that are more sustainable, with the same efficacy (if possible). Mathematical models of sterile insect technique (SIT) to prevent, reduce, eliminate or stop an epidemic of Chikungunya are formulated and analysed. In particular, we propose a new model that considers pulsed periodic releases, which leads to a hybrid dynamical system. This pulsed SIT model is coupled with the human population at different epidemiological states in order to assess its efficacy. Numerical simulations for the pulsed SIT, using an appropriate numerical scheme are provided. Analytical and numerical results indicate that pulsed SIT with small and frequent releases can be an alternative to chemical control tools, but only if it is used or applied early after the beginning of the epidemic or as a preventive tool.
Juang, Y-T; Peoples, C; Kafri, R; Kyttaris, V C; Sunahori, K; Kis-Toth, K; Fitzgerald, L; Ergin, S; Finnell, M; Tsokos, G C
Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease diagnosed on the presence of a constellation of clinical and laboratory findings. At the pathogenetic level, multiple factors using diverse biochemical and molecular pathways have been recognized. Succinct recognition and classification of clinical disease subsets, as well as the availability of disease biomarkers, remains largely unsolved. Based on information produced by the present authors' and other laboratories, a lupus gene expression array consisting of 30 genes, previously claimed to contribute to aberrant function of T cells, was developed. An additional eight genes were included as controls. Peripheral blood was obtained from 10 patients (19 samples) with SLE and six patients with rheumatoid arthritis (RA) as well as 19 healthy controls. T cell mRNA was subjected to reverse transcription and PCR, and the gene expression levels were measured. Conventional statistical analysis was performed along with principal component analysis (PCA) to capture the contribution of all genes to disease diagnosis and clinical parameters. The lupus gene expression array faithfully informed on the expression levels of genes. The recorded changes in expression reflect those reported in the literature by using a relatively small (5 ml) amount of peripheral blood. PCA of gene expression levels placed SLE samples apart from normal and RA samples regardless of disease activity. Individual principal components tended to define specific disease manifestations such as arthritis and proteinuria. Thus, a lupus gene expression array based on genes previously claimed to contribute to immune pathogenesis of SLE may define the disease, and principal components of the expression of 30 genes may define patients with specific disease manifestations.
Full Text Available Abstract Introduction Goodpasture's disease is a rare immunological disease with formation of pathognomonic antibodies against renal and pulmonary basement membranes. Cerebral involvement has been reported in several cases in the literature, yet the pathogenetic mechanism is not entirely clear. Case presentation A 21-year-old Caucasian man with Goodpasture's disease and end-stage renal disease presented with two generalized seizures after a period of mild cognitive disturbance. Blood pressure and routine laboratory tests did not exceed the patient's usual values, and examination of cerebrospinal fluid was unremarkable. Cerebral magnetic resonance imaging (MRI revealed multiple cortical and subcortical lesions on fluid-attenuated inversion recovery sequences. Since antiglomerular basement membrane antibodies were found to be positive with high titers, plasmapheresis was started. In addition, cyclophosphamide pulse therapy was given on day 13. Encephalopathy and MRI lesions disappeared during this therapy, and antiglomerular basement membrane antibodies were significantly reduced. Previous immunosuppressive therapy was performed without corticosteroids and terminated early after 3 months. The differential diagnostic considerations were cerebral vasculitis and posterior reversible encephalopathy syndrome. Vasculitis could be seen as an extrarenal manifestation of the underlying disease. Posterior reversible encephalopathy syndrome, on the other hand, can be triggered by immunosuppressive therapy and may appear without a hypertensive crisis. Conclusion A combination of central nervous system symptoms with a positive antiglomerular basement membrane test in a patient with Goodpasture's disease should immediately be treated as an acute exacerbation of the disease with likely cross-reactivity of antibodies with the choroid plexus. In our patient, a discontinuous strategy of immunosuppressive therapy may have favored recurrence of Goodpasture's disease.
Sarici, S Umit; Alpay, Faruk; Yeşilkaya, Ediz; Ozcan, Okan; Gökçay, Erdal
Minor blood group hemolytic disease is extremely rare, since the overall potency of minor blood groups in inducing antibodies is significantly lower when compared with that of Rh (D) antigen. We hereby report a very rare case of severe neonatal anti-E hemolytic disease due to E minor blood group incompatibility. A term newborn born to a 27-year-old, gravida 3, para 3 mother was referred due to a high and increasing serum bilirubin level despite phototherapy on the 4th day of life. On admission physical examination was normal except for the jaundice, and results of the laboratory investigation demonstrated a moderate-to-severe anemia (hemoglobin 7.8 g/dl) and a severe hemolytic hyperbilirubinemia (serum total and indirect bilirubin levels 36 mg/ dl and 32.8 mg/dl, respectively; reticulocyte count 15%; and a positive direct antiglobulin test). As there was no apparent cause of the hemolytic disease such as Rh or ABO incompatibilities, further investigation (a positive indirect antiglobulin test and a positive irregular anti-E antibody in both the patient and mother, and minor blood group antigen profiles in family members compatible with E minor blood group isoimmunization) revealed the presence of anti-E hemolytic disease due to E minor blood group incompatibility. Two exchange transfusions with a 12-hour-interval were performed with minor blood group compatible fresh whole blood, and the patient was discharged in a healthy condition on the 10th postnatal day. If the most common causes of severe neonatal hemolytic disease such as Rh and ABO incompatibilities cannot be demonstrated in a newborn with significant hemolytic hyperbilirubinemia, anti-E hemolytic disease should strongly be considered in differential diagnosis. It should be kept in mind that a very severe from of minor group antibody hemolytic disease characterized by anemia and severe hyperbilirubinemia many exchange transfusions may be encountered during the course of the disease.
Angela Song-En Huang
Full Text Available Zika virus infection, usually a mild disease transmitted through the bite of Aedes mosquitos, has been reported to be possibly associated with microcephaly and neurologic complications. Taiwan's first imported case of Zika virus infection was found through fever screening at airport entry in January 2016. No virus was isolated from patient's blood taken during acute illness; however, PCR products showed that the virus was of Asian lineage closely related to virus from Cambodia. To prevent Zika virus from spreading in Taiwan, the Taiwan Centers for Disease Control has strengthened efforts in quarantine and surveillance, increased Zika virus infection diagnostic capacity, implemented healthcare system preparedness plans, and enhanced vector control program through community mobilization and education. Besides the first imported case, no additional cases of Zika virus infection have been identified. Furthermore, no significant increase in the number of microcephaly or Guillain- Barré Syndrome has been observed in Taiwan. To date, there have been no autochthonous transmissions of Zika virus infection.
Chanswangphuwana, C; Townamchai, N; Intragumtornchai, T; Bunworasate, U
Chronic graft-versus-host disease (cGVHD) is the major complication following allogeneic stem cell transplantation (allo-SCT). Nephrotic syndrome (NS) and other types of glomerulonephritis have been proposed to be the very rare forms of renal cGVHD. From 1991 to 2011, 253 patients underwent allo-SCT at our center. We report here 4 cases (1.6%) presenting with varieties of glomerular manifestations associated with cGVHD. The first case was typical NS. The renal pathology showed membranous nephropathy (MN). The second case was also MN, but this patient also had the pathology of focal segmental glomerulosclrosis (FSGS) and acute tubular necrosis (ATN). The third case showed lupus nephritis-like glomerular lesions with a high anti-nuclear antibody (ANA) titer. The fourth case presented with rapidly progressive glomerulonephritis (RPGN)-like symptoms. The kidney histology in this case was not available. The patient responded well to immunosuppressive therapy, but NS later recurred. Therefore, overt glomerular diseases after allo-SCT in Thai patients are not very rare. Monitoring urinalysis during withdrawal of immunosuppressive drugs and also during follow-up of patients with cGVHD may be considered.
Full Text Available Immunoglobulin G4-related disease (IgG4-RD is a newly recognized fibroinflammatory condition which can potentially involve any organ. Some characteristic histopathologic features with lymphoplasmacytic infiltrate, an increased number of IgG4+ cells, storiform fibrosis and obliterative phlebitis are the mainstay for diagnosis. Serum IgG4 levels often increase. We report the case of a patient with perivascular fibrotic lesions involving the aortic arch and the splenic hilum, with a surgical biopsy-proven diagnosis of IgG4-related disease. The patient is now undergoing a low-dose corticosteroid maintenance therapy without evidence of new localizations of the disease. This case highlights the need for increasing awareness and recognition of this new, emerging clinical condition.
Elaraoud, Ibrahim; Suleman, Hanif J; Cikatricis, Peter; Palmer, Helen
A 69-year-old man became aware of people's speech being out of synch with their lip movements alongside persistent headaches, both of which progressively worsened. A few weeks later, he developed progressive and painless visual loss in one eye. Initial neurological evaluation, inflammatory markers and head computed tomography scan were normal. Ophthalmological examination and OCT scan revealed right macular subretinal fluid with choroidal indentation, which prompted urgent further investigations including head MRI revealing extensive leptomeningeal disease. The patient continued to deteriorate and deceased shortly afterwards. This is the first reported case of neoplastic leptomeningeal disease presenting with loss of vision due to choroidal metastasis with localised exudative retinal detachment. Diagnosing neoplastic leptomeningeal disease requires a high index of suspicion from the treating physician. Symptoms may be nonspecific and/or subtle. Combining cerebrospinal fluid cytology from lumbar puncture with contrast-enhanced magnetic resonance imaging of the brain is considered the optimal diagnostic approach.
Alcalde Vargas, Alfonso; Justiniano, José Manuel Herrera; Carnerero, Eduardo Leo; Salado, Claudio Trigo; Domingo, Ignacio Gutiérrez; Galán, José Luis Márquez
Severe lower gastrointestinal (GI) bleeding is an infrequent complication in Crohn's disease. We report the cases of three patients with Crohn's disease, localized in distinct areas, who developed severe enterorrhagia requiring multiple transfusions. All three patients responded favorably to infliximab administration, which resolved the life-threatening hemorrhages and avoided emergency surgical resection, which had seemed inevitable. Based on this clinical experience and a review of the literature comparing infliximab with other pharmacological options, we believe that this drug should be the treatment of choice in patients with Crohn's disease who develop severe lower gastrointestinal bleeding. This strategy can, in some cases, avoid surgery if the bleeding stops due to rapid healing of the deep mucosal lesions causing the hemorrhagic episode.
Aspelin, P.; Adielsson, G.; Dimitrov, N.; Nyman, U.; Waldenstroem, J.
The findings at abdominal computed tomography (CT) in a patient with primary macroglobulinemia (Waldenstroem's disease) are reported. CT was of special value in monitoring the extent of the disease in the abdomen and the response to treatment. At the first examination the patient had changes in both the reticuloendothelial system and the small bowel changes. The prompt disappearance on treatment of the small bowel changes proves that these changes were due to a high plasma viscosity syndrome. The slow response on the liver, spleen and lymph nodes suggests lymphomatous engagement. Although the primary method to diagnose Waldenstroem's disease is through laboratory tests, CT is of use in monitoring the abdominal involvement, especially the response to treatment.
Full Text Available Kikuchi-Fujimoto disease is a self-limited benign condition of unknown etiology characterized by cervical lymphadenopathy, fever, and leucopenia. An autoimmune hypothesis has been suggested and an association with systemic lupus erythematosus, Sjogren's disease, and antiphospholipid syndrome has been noted. We report a 27-year-old male who presented for evaluation of weakness and he was diagnosed with seropositive generalized myasthenia gravis and underwent a thymectomy. He was stable until five months post-thymectomy, when he developed a high fever associated with nontender cervical lymphadenopathy, chills, and night sweats. Histopathology of a cervical lymph gland biopsy was compatible with Kikuchi-Fujimoto lymphadenitis. He improved spontaneously and was asymptomatic at the followup six months later. Our case expands the association of Kikuchi-Fujimoto disease with autoimmune disorders to include myasthenia gravis.
Macerelli, Marianna; Mazzer, Micol; Foltran, Luisa; Cardellino, Giovanni Gerardo; Aprile, Giuseppe
The combination of erlotinib and gemcitabine is a recognized option for patients with metastatic pancreatic cancer whose common adverse events such as skin rash, diarrhea, or fatigue are usually easily manageable. Interstitial lung disease (ILD) is a life-threatening toxicity reported in patients with non-small-cell lung cancers treated with epidermal growth factor receptor-tyrosine kinase inhibitors or gemcitabine. This side effect is extremely rare in patients with pancreatic cancer. We report fatal treatment-related ILD that occurred in a 67-year-old patient with metastatic pancreatic cancer. Risk factors and pathophysiology of ILD need further investigation but caution is highly recommended for patients with an underlying pulmonary disease when using erlotinib in monotherapy or combination therapy.
Raju, Kalyani; Bangalore, Gayathri Nagaraj; Thuruvekere, Suresh Nagaraj; Pathavanalli, Venkatarathnamma Narayanappa
Wilson's disease is an autosomal recessive disease resulting in defective copper metabolism, which is usually seen in young adults, predominantly affecting liver and brain. Although it is not uncommon in India, variation in epidemiology, clinical presentation and course are reported. However, community-based incidence and prevalence rates are not available in India and incidences are limited to hospital based reports. Most often, the diagnosis is delayed. We present a clinical autopsy case in a 39 year-old female who had presented with clinical symptoms at 18 years of age. The duration of illness was 21 years. Patient's parent had consanguineous marriage and the younger sibling had died at 5 years of age with similar complaints.
Full Text Available Abstract Methotrexate (MTX is a folate-antagonist used in several neoplastic and inflammatory diseases. Reports of pulmonary complications in patients given low-dose MTX therapy are increasing. Pulmonary toxicity from MTX has a variable frequency and can present with different forms. Most often MTX-induced pneumonia in patients affected by rheumatoid arthritis (RA is reported. In this paper we describe a case of MTX-related pneumonitis in a relatively young woman affected by Crohn's disease who presented non-productive cough, fever and dyspnea on exercise. Chest X-ray demonstrated bilateral interstitial infiltrates and at computed tomography (CT ground-glass opacities appeared in both lungs. At spirometry an obstructive defect was demonstrated. A rapid improvement of symptoms and the regression of radiographic and spirometric alterations was achieved through MTX withdrawal and the introduction of corticosteroid therapy.
Caboclo Luís Otávio Sales Ferreira
Full Text Available We report the case of a 41-year-old man with iatrogenic Creutzfeldt-Jakob disease (CJD acquired after the use of growth hormone (GH obtained from a number of pituitary glands sourced from autopsy material. The incubation period of the disease (from the midpoint of treatment to the onset of clinical symptoms was rather long (28 years. Besides the remarkable cerebellar and mental signs, the patient exhibited sleep disturbance (excessive somnolence from the onset of the symptoms, with striking alteration of the sleep architecture documented by polysomnography. 14-3-3 protein was detected in the CSF, and MRI revealed increased signal intensity bilaterally in the striatum, being most evident in diffusion-weighted (DW-MRI sequences. This is the second case of iatrogenic CJD associated with the use of GH reported in Brazil.
Yoon, Esther C; Vail, Eric; Kleinman, George; Lento, Patrick A; Li, Simon; Wang, Guiqing; Limberger, Ronald; Fallon, John T
Lyme disease is a systemic infection commonly found in the northeastern, mid-Atlantic, and north-central regions of the United States. Of the many systemic manifestations of Lyme disease, cardiac involvement is uncommon and rarely causes mortality. We describe a case of a 17-year-old adolescent who died unexpectedly after a 3-week viral-like syndrome. Postmortem examination was remarkable for diffuse pancarditis characterized by extensive infiltrates of lymphocytes and focal interstitial fibrosis. In the cardiac tissue, Borrelia burgdorferi was identified via special stains, immunohistochemistry, and polymerase chain reaction. The findings support B. burgdorferi as the causative agent for his fulminant carditis and that the patient suffered fatal Lyme carditis. Usually, Lyme carditis is associated with conduction disturbances and is a treatable condition. Nevertheless, few cases of mortality have been reported in the literature. Here, we report a rare example of fatal Lyme carditis in an unsuspected patient. Copyright © 2015 Elsevier Inc. All rights reserved.
Lazier, Joanna; Mah, Jean K; Nikolic, Ana; Wei, Xing-Chang; Samedi, Veronica; Fajardo, Carlos; Brindle, Mary; Perrier, Renee; Thomas, Mary Ann
Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.
Ozden, Bora; Gunduz, Kaan; Gunhan, Omer; Ozden, Feyza Otan
Focal epithelial hyperplasia or Heck's disease, is a rare viral infection of the oral mucosa caused by human papillomavirus. The frequency of this disease varies widely from one geographic region to another. In Caucasians there have been only few cases reported. This paper reports a case of focal epithelial hyperplasia and demonstrates the association with HPV subtype 32 through polymerase chain reaction (PCR) and sequencing of PCR products. A 7-year-old Caucasian girl was admitted to our clinic for investigation of multiple oral mucosal lesions in the mouth. Lesion was excised under local anesthesia without any complication. The lesion was diagnosed as focal epithelial hyperplasia according to both clinical and histopathological features. Dental staff should be aware of these kind of lesions and histopathological examination together with a careful clinical observation should be carried out for a definitive diagnosis.
Coulier, Bruno; Montfort, Luc; Pierard, Frederic [Clinique St. Luc, Bouge (Belgium); Beniuga, Gabrique; Gielen, Lsabelle [Institute of Pathology and Genetics, Gosselies (Belgium)
We hereby report a case of diffuse pelvic peritoneal involvement by immunoglobulin G4-related disease (IgG4-RD). Numerous pelvic masses and nodules showing delayed enhancement on enhanced abdominal CT were found to congregate in the pelvic organs of a 57-year-old female presenting with intestinal subocclusion. The differentiation between peritoneal IgG4-RD and pelvic peritoneal carcinomatosis was only made by histopathology and immunohistochemistry performed after surgical resection. Autoimmune pancreatitis represents the historical prototype of IgG4-RD, but the spectrum of manifestations involving various organs has expanded during the last decade. In this report, we shortly review this clinical entity.
Ming Dai; Ying-Cong Yu; Tian-Hua Ren; Jia-Guo Wu; Yuan Jiang; Lai-Gen Shen; Jing Zhang
Gynura root has been used extensively in Chinese folk medicine and plays a role in promoting microcirculation and relieving pain. However, its hepatic toxicity should not be neglected. Recently, we admitted a 62-year old female who developed hepatic veno-occlusive disease (HVOD) after ingestion of Gynura root. Only a few articles on HVOD induced by Gynura root have been reported in the literature. It is suspected that pyrrolizidine alkaloids in Gynura root might be responsible for HVOD. In this paper, we report a case of HVOD and review the literature.
Zeng, Mary; Amodio, John; Schwarz, Steve; Garrow, Eugene; Xu, Jiliu; Rabinowitz, Simon S
While sigmoid volvulus is commonly seen in older patients, it is rarely encountered in children and younger adults. Consequently, heightened awareness of this entity is required to avoid a delay in diagnosis. Among the pediatric and adult cases of colonic volvulus previously reported in the English literature, 23 of the affected individuals have also been diagnosed with Hirschsprung disease (HD). This report describes a 12-year-old male with a history of chronic constipation who presented with vomiting and abdominal distension and was found to have sigmoid volvulus with previously unrecognized HD. The case presentation is followed by a review of the literature describing colonic volvulus secondary to HD in children.
McBride, Graham; Slaney, David; Tait, Andrew
The New Zealand health system has defined as 'notifiable' over 50 diseases. Of these campylobacteriosis is the most commonly reported comprising 41% of all notifications in 2011 (presently about 150 illness cases per 100,000 population per annum). Furthermore, the incidence of this mild illness, which is potentially waterborne, is under-reported by at least an order-of-magnitude. Increased downstream pathogen loads and/or disease incidence have been found to be associated with increased rainfall, particularly in agricultural landscapes. Therefore, given the predominance of agricultural land uses in New Zealand, transmission and exposure to its agent (thermotolerant Campylobacter bacteria) may be affected by changing rainfall and temperature patterns associated with climate change. Reporting rates for other potentially water-borne zoonoses are also noticeable (for example, the reported rate for cryptosporidiosis for 2011 was 14 per 100,000 population). The distribution of Cryptosporidium oocysts in the environment may be influenced by climate change because it has often been implicated in drinking-water contamination, and heavy rainfall events have been found to be associated with increased pathogen loads in rivers and disease incidence. Given this background, which may also be applicable to other countries with agriculturally-dominated landscapes, a New Zealand study was initiated to develop a decision-support system for the projected effects of climate change on a selected suite of environmentally-transmitted pathogens, including Campylobacter and Cryptosporodium oocysts. Herein we report on the manner in which a linear SIR (Susceptible-Ill-Recovered) model previously developed for campylobacteriosis can be extended to cryptosporidiosis, applied to changes in pathogen contact rate and hence reported illness, and coupled to climate change projections associated with different greenhouse gas emission scenarios. The resulting SIR model outputs provided projected
Maule, Alec G.; Beeman, John W.; Hans, Karen M.; Mesa, M.G.; Haner, P.; Warren, J.J. [Geological Survey, Cook, WA (United States). Columbia River Research Lab.
This document describes the project activities 1996--1997 contract year. This report is composed of three chapters which contain data and analyses of the three main elements of the project: field research to determine the vertical distribution of migrating juvenile salmonids, monitoring of juvenile migrants at dams on the Snake and Columbia rivers, and laboratory experiments to describe the progression of gas bubble disease signs leading to mortality. The major findings described in this report are: A miniature pressure-sensitive radio transmitter was found to be accurate and precise and, after compensation for water temperature, can be used to determine the depth of tagged-fish to within 0.32 m of the true depth (Chapter 1). Preliminary data from very few fish suggest that depth protects migrating juvenile steelhead from total dissolved gas supersaturation (Chapter 1). As in 1995, few fish had any signs of gas bubble disease, but it appeared that prevalence and severity increased as fish migrated downstream and in response to changing gas supersaturation (Chapter 2). It appeared to gas bubble disease was not a threat to migrating juvenile salmonids when total dissolved gas supersaturation was < 120% (Chapter 2). Laboratory studies suggest that external examinations are appropriate for determining the severity of gas bubble disease in juvenile salmonids (Chapter 3). The authors developed a new method for examining gill arches for intravascular bubbles by clamping the ventral aorta to reduce bleeding when arches were removed (Chapter 3). Despite an outbreak of bacterial kidney disease in the experimental fish, the data indicate that gas bubble disease is a progressive trauma that can be monitored (Chapter 3).
Li, Zu-Gui; Qin, Xiao-Jing
Extramammary Paget disease (EMPD) is a rare cutaneous, intraepithelial adenocarcinoma. Because of its rarity, little is known about the value of fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) in evaluating this disease. Our case report aims to increase current knowledge of FDG PET/CT in EMPD as a noninvasive imaging tool for assessing the extension of the disease and detecting distant metastases.We reported a 64-year-old Chinese man who presented with a slowly progressive, ill-margined erythematous lesion with a crusted, eroded, and scaly surface involving multiple sites of penis, scrotum, left pelvic wall, hip, groin, and thigh for >4 years, which became extensive in the past 1 year. He was referred for an FDG PET/CT examination to further evaluate the lesions. A following skin biopsy was performed to obtain a definitive histological diagnosis.FDG PET/CT imaging revealed mild FDG uptake at the extensive cutaneous lesion with subcutaneous invasion, involvement of lymph nodes, and multiple intense FDG-avid of skeletal metastases. According to the appearance of FDG PET/CT, a provisional diagnosis of advanced cutaneous malignancy was made. Histopathology findings indicated characteristic of EMPD. The patient was treated with radiation therapy and died from complications 2 months after the last dose of radiotherapy.Our case highlighted that a whole-body FDG PET/CT should be incorporated into the diagnostic algorithm of EMPD to give a comprehensive assessment of this disease.
Molina-Carrión, Luis Enrique; Mendoza-Álvarez, Sergio Alberto; Vera-Lastra, Olga Lidia; Caldera-Duarte, Agustín; Lara-Torres, Héctor; Hernández-González, Claudia
Rosai-Dorfman disease, known as well as sinus histiocytosis with massive lymphadenopathy, is a histiocytic proliferative disorder which may affect, with an extranodal presentation, the central nervous system, in 5 % of cases with exceptional reports of simultaneous development of spinal and cranial tumors. When it affects the central nervous system it appears more in men and it is shown as a mass in the cranial dura mater or in the spinal cord. The clinical symptoms of Rosai-Dorfman disease are fever, general malayse, weight loss, and nocturnal diaphoresis. Also, when Rosai-Dorfman disease affects the spinal cord, it has an impact on the thoracic spine, which causes paraparesis, quadriparesis, and sensory disorder. Histopathologically, the lymph nodes show emperipolesis. The diagnosis of Rosai-Dorfman disease is usually good, since 40 % of the patients present a spontaneous remission if they are treated with oral corticosteroids, even though the lesion can be managed with fractionated radiotherapy or with radical surgery. We report the case of a 34-year-old male who started with spinal injuries, and a year later showed intracranial lesions.
Vidal, Maria da Graca Caminha; Londero, Thiza Massaia [Universidade Federal de Santa Maria (UFSM), RS (Brazil); Haygert, Carlos Jesus Pereira; Zagoury, Andre Rivas [Universidade Federal de Santa Maria (UFSM), RS (Brazil). Hospital Universitario; Adaime, Samia Braga Ramos, E-mail: email@example.com [Hospital Orencio Freitas, Niteroi, RJ (Brazil); Carrion, Rodrigo Previdello [Hospital de Clinicas de Porto Alegre, RS (Brazil)
The authors report the case of a patient with Madelung's disease, which is clinically described as the presence of multiple and symmetric non-encapsulated masses of fatty tissue, usually involving the neck and the upper region of the trunk. Computed tomography was selected as the imaging method for diagnosis confirmation, considering its lower cost and higher availability as compared with magnetic resonance imaging. (author)
Han, Kyung-Sook; Choi, Seung-Kook; Kim, Hyeong-Hwan; Lee, Sung-Chan; Park, Jong-Han; Cho, Myoung-Rae; Park, Mi-Jeong
In 2010, symptoms of leaf and stem rot were observed on potted plants (Peperomia quadrangularis) in a greenhouse in Yongin, Korea. The causative pathogen was identified as Myrothecium roridum based on morphological data, internal transcribed spacer sequence analysis, and pathogenicity test. To our knowledge, this is the first report of M. roridum causing leaf and stem rot disease on P. quadrangularis in Korea and elsewhere worldwide.
Shu, Jang Ho; Cho, Kil Ho [Dept. of Diagnostic Radiology, College of Medicine, Yeungnam University, Daegu (Korea, Republic of)
Trevor's disease, also known as dysplasia epiphysealis hemimelica, is a rare developmental disorder presented with epiphyseal overgrowth involving one or multiple epiphyses. Here we report the radiologic findings of two cases of dysplasia epiphysealis hemimelica in a 4-year-old boy in the knee without symptom and a 10-year-old boy in the ankle with pain. The former was observed for eight years and the latter was treated with surgical resection.
Heo, Young Jin; Jeong, Hae Woong; In, Hyun Sin [Dept. of Radiology, Busan Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)
Marchiafava-Bignami disease (MBD) is a rare toxic disorder strongly associated with chronic alcoholism. It is characterized by progressive demyelination and necrosis of the corpus callosum. The process may extend to neighboring white matter and subcortical regions. We report a case of MBD in which fluid-attenuated inversion recovery and diffusion-weighted imaging revealed symmetrical hyperintense lesions with diffuse involvement of the corpus callosum, white matter, corticospinal tract, internal capsule, and middle cerebellar peduncle.
Sato, Shuichi; Nomura, Naoyuki; Kawashima, Hideyuki; Ito, Koichi
This case report describes the nonsurgical creation of an interdental papilla in orthodontic therapy of a patient with severe periodontal disease. A large diastema between the maxillary incisors was closed completely, and the lost interdental papilla was re-created by orthodontic therapy after nonsurgical periodontal therapy. Radiographs showed improvement of the bone defect. Periodontal/orthodontic soft tissue manipulation is a nonsurgical technique that can lead to reformation of the interdental papilla, provided that periodontal health is maintained.
Casamassima, Francesco; Lattanzi, Lorenzo; Perlis, Roy H; Fratta, Sara; Litta, Antonella; Longobardi, Antonio; Stange, Jonathan P; Tatulli, Alessandro; Cassano, Giovanni B
We report a case of a patient with Fahr disease affected by bipolar disorder type I with psychotic symptoms. The complex clinical picture, characterized by both neurological and psychiatric symptoms, proved to be partially or completely resistant to several pharmacological trials. On the contrary, a marked improvement of clinical picture occurred after a cycle of 10 sessions of electroconvulsive therapy, followed by a complete and sustained resolution of mood, cognitive, motor, and behavioral symptoms during the next 4 years.
Walker, Richard W; Dunn, Janet R; Gray, William K
Many people with Parkinson's disease (PD) experience dysphagia; however, the prevalence of dysphagia in people with PD is unknown. We studied a prevalent population of PD cases. All of those who consented to participate were assessed for anxiety, depression, cognitive function, and quality of life using standard rating scales. Anyone who answered "yes" to either one of the two questions: Do you have difficulty swallowing food/liquid or tablets? and Do you cough after eating/drinking? was considered to have dysphagia. Question 7 of the Unified Parkinson's Disease Rating Scale (UPDRS) was also used to identify dysphagia. Of 106 prevalent PD cases, 75 (38 males) patients consented to examination and assessment. The prevalence of dysphagia was 32.0% (n=24; 11 males). Using the response to UPDRS Question 7 as an indicator of the impact of swallowing problems on the patient, there were significant correlations with cognitive function, anxiety, depression, quality of life, and UPDRS-reported gait disturbance, postural instability and problems with falling. There was no correlation with disease duration, age, or gender. Almost one third of the participants reported dysphagia. There was a strong correlation between dysphagia and gross motor skills; patients reporting such problems should be screened for swallowing problems. © Springer Science+Business Media, LLC 2010
Caccaro, Roberta; Savarino, Edoardo; D'Incà, Renata; Sturniolo, Giacomo Carlo
Pulmonary abnormalities are not frequently encountered in patients with inflammatory bowel diseases. However, lung toxicity can be induced by conventional medications used to maintain remission, and similar evidence is also emerging for biologics. We present the case of a young woman affected by colonic Crohn's disease who was treated with oral mesalamine and became steroid-dependent and refractory to azathioprine and adalimumab. She was referred to our clinic with a severe relapse and was treated with infliximab, an anti-tumor necrosis factor α (TNF-α) antibody, to induce remission. After an initial benefit, with decreases in bowel movements, rectal bleeding and C-reactive protein levels, she experienced shortness of breath after the 5(th) infusion. Noninfectious interstitial lung disease was diagnosed. Both mesalamine and infliximab were discontinued, and steroids were introduced with slow but progressive improvement of symptoms, radiology and functional tests. This represents a rare case of interstitial lung disease associated with infliximab therapy and the effect of drug withdrawal on these lung alterations. Given the increasing use of anti-TNF-α therapies and the increasing reports of pulmonary abnormalities in patients with inflammatory bowel diseases, this case underlines the importance of a careful evaluation of respiratory symptoms in patients undergoing infliximab therapy.
Akbulut, Sami; Demircan, Firat; Sogutcu, Nilgun
Hydatid cyst disease may develop in any organ of the body, most frequently in the liver and lung, but occasionally can affect other organs such as the thyroid gland. Although the prevalence of thyroidal cyst disease varies by region, literature data suggest that it ranges between 0% and 3.4%. The aim of this report was to share 2 cases with thyroid hydatid cyst. Two female patients aged 26 and 57 years were admitted to our outpatient clinic with different complaints. While the first case presented with front of the neck swelling and pain, the second case presented with hoarseness, sore throat, and neck swelling. Both patients were living in a rural area in the southeastern region of Turkey and had had a long history of animal contact. Both patients had undergone previous surgeries for hydatid cyst disease. Both patients presented with a clinical picture consistent with typical multinodular goiter, and both underwent total thyroidectomy after detailed examinations and tests. The exact diagnosis was made after histopathologic examination in both patients. They both had a negative indirect hemagglutination test studied from blood samples. They both have had no recurrences during a 4-year follow-up. In conclusion, although thyroid gland is rarely affected, hydatid cyst disease should not be overlooked in differential diagnosis of cystic lesions of thyroid gland in patients who live in regions where hydatid cyst disease is endemic and who had hydatid cysts in other regions of their body.
Shin, John Junghun; Lee, Jun-Pyo; Rah, Jung-Ho
Wilson's disease is a rare genetic disorder that has abnormal copper metabolism. Although the disease's main problems are found in liver and brain, some studies revealed manifestation of various musculoskeletal problems in the patients. In this report, we encountered a young patient who had fracture in the forearm bone. Initially, exception to a previous history of fracture from a motorcycle accident, the patient did not have any medical or drug use history, and laboratory work-ups were insignificant. However, with suspicion on his bone's integrity, bone densitometry was recommended and revealed osteopenic change. To disclose a cause for the change, questions were made to recall any particular history or event, and his complaint of recent vision loss led to ophthalmologic consultation where under slit-lamp test found Kayser-Fleischer ring. Further laboratory work-up found low levels of serum copper and ceruloplasmin and high copper level in 24-hr urine sample that led to the diagnosis of Wilson's disease. Although Wilson's disease has been frequently noticed with considerable musculoskeletal manifestation, it rarity makes the diagnosis illusive to a physician. Hence, despite of its rarity, it is imperative to remember the disease's bony manifestation, and it should be suspected in young patients with demineralized bone when the reason for brittle bone cannot be answered with other better known conditions.
Dusser, P; Eyssette-Guerreau, S; Koné-Paut, I
Cat scratch disease is the most common zoonosis in humans and its typical expression is a persistent benign regional adenopathy. In some rare cases, mono- or multifocal osteomyelitis is described. In this paper, we report the case of bone lesions in a 13-year-old girl infected with cat scratch disease. We have also undertaken a literature review and analyzed 60 other such cases. The manifestation of a bone lesion associated with cat scratch disease was characterized by a mono- or multifocal infectious osteomyelitis, fever, and a general alteration of the patient's health. The most frequent location of osteomyelitis was in the spine. Magnetic resonance imaging appeared the most sensitive test to highlight the bone lesions. Serological findings help reinforce the diagnosis of cat scratch disease caused by Bartonella henselae infection. Osteomyelitis in cat scratch disease is rare but not exceptional. Therefore, it is essential to think about this hypothesis in case of osteomyelitis associated with a general alteration of the patient's health, especially if the lesions are multifocal and if there is a known history of cat contact.
Full Text Available Abstract Introduction Polycystic liver disease is asymptomatic in 95% of patients. In the remaining 5% it causes symptoms due to the local mass effect of the polycystic liver. We describe the case of a patient who presented with symptoms of a pleural effusion and was also found to have polycystic liver disease. The effusion recurred despite repeated efforts at drainage and only resolved following surgical debridement of the cystic liver. Case presentation A 50-year-old Caucasian woman presented with a two-week history of increasing dyspnoea. An examination revealed a large right pleural effusion and gross hepatomegaly. An ultrasound confirmed a large polycystic liver and diagnostic thoracocentesis revealed an exudate, which was sterile to culture. The pleural effusion proved refractory to drainage and our patient underwent surgery to deroof the main hepatic cysts in an attempt to reduce the pressure on her right diaphragm. The histology was compatible with that of polycystic liver disease. No evidence of malignancy was found. After surgery, our patient had no recurrence of her effusion and, to date, has remained asymptomatic from her polycystic liver disease. Conclusion The case in this report illustrates that an exudative pleural effusion is a rare complication of polycystic liver disease. We feel that the mechanical effects of a large polycystic liver, and subsequent disruption of sub-diaphragmatic capillaries, resulted in a persistent exudative pleural effusion. Thus, surgical debulking of the hepatic cysts is required to manage these effusions.
Iwasaki, Norimasa; Masuko, Tatsuya; Funakoshi, Tadanao; Minami, Akio
Elderly patients suffering from avascular necrosis of a carpal bone in both wrists are extremely rare. We report a case of an elderly kendo (Japanese fencing) competitor who sustained Preiser's disease in the left hand following the occurrence of Kienböck's disease in the right hand. The current case demonstrates the importance of raising awareness of these diseases as potential sports-related problems in the elderly.
Ramosaj-Morina, Atifete; Keka-Sylaj, A; Hasbahta, V; Baloku-Zejnullahu, A; Azemi, M; Zunec, R
Celiac disease is an immune-mediated disorder elicited by ingestion of gluten in genetically susceptible persons. This disorder is characterized by specific histological changes of the small intestine mucosa resulting in malabsorption. This case was written up as it was an unusual and dramatic presentation of celiac disease. We report the case of a 3-year-old Albanian girl who presented at our clinic with carpal spasms and hand paresthesia. A physical examination at admission revealed a relatively good general condition and body weight of 10.5 kg (10 percentile). Carpal spasms and paresthesias of her extremities were present. Neuromuscular irritability was demonstrated by positive Chvostek and Trousseau signs. Blood tests showed severe hypocalcemia with a total serum calcium of 1.2 mmol/L (normal range 2.12 to 2.55 mmol/L), ionized calcium of 0.87 (normal range 1.11 to 1.30 mmol/L), and 24-hour urine calcium excretion of 9.16 mmol (normal range female celiac disease was performed: antigliadin immunoglobulin A, anti-tissue transglutaminase, and anti-endomysial immunoglobulin A antibodies were positive. A duodenal biopsy revealed lymphocyte infiltration, crypt hyperplasia, and villous atrophy compatible with celiac disease grade IIIb according to the Marsh classification. Following the diagnosis of celiac disease, human leukocyte antigen typing was performed, giving a definite diagnosis of celiac disease. She was started on a gluten-free diet. Due to failure to follow a gluten-free diet, episodes of carpal spasms appeared again. Unfortunately, at the age of 7 years she presents with delayed psychophysical development. Although hypocalcemia is a common finding in celiac disease, hypocalcemic carpal spasm is a rare initial manifestation of the disease. Therefore, the possibility of celiac disease should be considered in patients with repeated carpal spasms that seem unduly difficult to treat. This should be evaluated even in the absence of gastrointestinal
Full Text Available David T Eton,1 Tarig A Elraiyah,2 Kathleen J Yost,3 Jennifer L Ridgeway,1 Anna Johnson,2 Jason S Egginton,1 Rebecca J Mullan,4 Mohammad Hassan Murad,2 Patricia J Erwin,2 Victor M Montori1,2 1Division of Heath Care Policy and Research, Department of Health Sciences Research, 2Knowledge and Evaluation Research Unit, 3Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA; 4University of Minnesota Medical School, Minneapolis, MN, USA Background: Burden of treatment refers to the workload of health care and its impact on patient functioning and well-being. There are a number of patient-reported measures that assess burden of treatment in single diseases or in specific treatment contexts. A review of such measures could help identify content for a general measure of treatment burden that could be used with patients dealing with multiple chronic conditions. We reviewed the content and psychometric properties of patient-reported measures that assess aspects of treatment burden in three chronic diseases, ie, diabetes, chronic kidney disease, and heart failure. Methods: We searched Ovid MEDLINE, Ovid EMBASE, Ovid PsycINFO, and EBSCO CINAHL through November 2011. Abstracts were independently reviewed by two people, with disagreements adjudicated by a third person. Retrieved articles were reviewed to confirm relevance, with patient-reported measures scrutinized to determine consistency with the definition of burden of treatment. Descriptive information and psychometric properties were extracted. Results: A total of 5686 abstracts were identified from the database searches. After abstract review, 359 full-text articles were retrieved, of which 76 met our inclusion criteria. An additional 22 articles were identified from the references of included articles. From the 98 studies, 57 patient-reported measures of treatment burden (full measures or components within measures were identified. Most were multi-item scales
van Netten Johannes P
Full Text Available Abstract Crohn's disease is a chronic illness that may often follow a relapsing-remitting course. Many of the factors that may be associated with the spontaneous remission of this disease (i.e. not related to specific treatment remain to be determined. In the present report, we review the medical history of a patient with a long history of moderate to severe Crohn's whose complete remission immediately followed the development of a febrile infection. The patient first developed symptoms of Crohn's in her late adolescent years. At the time of diagnosis at age 23, she was placed on mesalamine - without effective control her disease symptoms. Due to progressive deterioration, the patient underwent a bowel resection at age 25. Soon afterwards symptoms recurred, gradually increasing in severity. In February 2005, at age 36, the patient developed a painful abscess associated with a rectal fistula. Other symptoms at the time included chronic bone and stomach pain, swollen joints, and debilitating fatigue. Surgical correction was scheduled in mid-March. In late February, the patient developed a respiratory infection associated with fevers of 103-104°F. After the onset of fever, the abscess pain disappeared and this was soon followed by a disappearance of all other disease symptoms. By the time the corrective surgery occurred, she had no Crohn's symptoms. Her remission lasted 10 weeks when the previous symptoms then reappeared. The patient has subsequently used a variety of conventional therapies, but still suffers from severe symptoms of her disease. In recent years, a growing body of literature has emphasized the important role that innate immunity plays in the etiology of Crohn's disease; however, a key component of innate immunity, the febrile response, has been overlooked. Other cases of spontaneous remission following febrile infection in inflammatory bowel disease have been reported. Moreover, induction of a febrile response was in the past used
Gardner, Ian A
The STARD statement (www.stard-statement.org) emphasizes complete and transparent reporting of key elements of test accuracy studies. Guidelines for authors in many biomedical journals recommend adherence to these standards but explicit recommendations by editors of veterinary journals are limited. Adherence to standards benefits end-users of tests including doctors, veterinarians and other healthcare professionals and the human and animal patients in which the tests are used. Reporting standards also provide a structured basis for researchers and graduate students to prepare manuscripts, and subsequently can be a useful adjunct to the peer-review process. This paper discusses the purpose of STARD and its possible modification for animal disease studies, variation in reporting and design quality in human and animal disease studies, use of a different instrument (QUADAS) for assessing methodological quality, and provides some recommendations for the future. Finally, the contributions of Dr. Hollis Erb to improvements in methodological and reporting qualities of test accuracy studies in Preventive Veterinary Medicine are described.
Aletaha, D; Landewe, R; Karonitsch, T; Bathon, J; Boers, M; Bombardier, C; Bombardieri, S; Choi, H; Combe, B; Dougados, M; Emery, P; Gomez-Reino, J; Keystone, E; Koch, G; Kvien, T K; Martin-Mola, E; Matucci-Cerinic, M; Michaud, K; O'Dell, J; Paulus, H; Pincus, T; Richards, P; Simon, L; Siegel, J; Smolen, J S; Sokka, T; Strand, V; Tugwell, P; van der Heijde, D; van Riel, P; Vlad, S; van Vollenhoven, R; Ward, M; Weinblatt, M; Wells, G; White, B; Wolfe, F; Zhang, B; Zink, A; Felson, D
To make recommendations on how to report disease activity in clinical trials of rheumatoid arthritis (RA) endorsed by the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR). The project followed the EULAR standardized operating procedures, which use a three-step approach: 1) expert-based definition of relevant research questions (November 2006); 2) systematic literature search (November 2006 to May 2007); and 3) expert consensus on recommendations based on the literature search results (May 2007). In addition, since this is the first joint EULAR/ACR publication on recommendations, an extra step included a meeting with an ACR panel to approve the recommendations elaborated by the expert group (August 2007). Eleven relevant questions were identified for the literature search. Based on the evidence from the literature, the expert panel recommended that each trial should report the following items: 1) disease activity response and disease activity states; 2) appropriate descriptive statistics of the baseline, the endpoints and change of the single variables included in the core set; 3) baseline disease activity levels (in general); 4) the percentage of patients achieving a low disease activity state and remission; 5) time to onset of the primary outcome; 6) sustainability of the primary outcome; 7) fatigue. These recommendations endorsed by EULAR and ACR will help harmonize the presentations of results from clinical trials. Adherence to these recommendations will provide the readership of clinical trials with more details of important outcomes, while the higher level of homogeneity may facilitate the comparison of outcomes across different trials and pooling of trial results, such as in meta-analyses.
Full Text Available Objective To further investigate the diagnostic pitfalls of Kimura's disease(KD. Methods We report one case of Kimura's disease accompanied with mediastinal lymphadenopathy admitted to General Hospital of Chinese PLA in the year 2010. After searching on PubMed and Chinese Medical Journal Searching Engines(Wanfang data base,Cqvip data base,we have found literatures reporting another 3 cases of Kimura's disease with mediastinal lymphadenopathy. Plus the one we presented, all four patients' clinical data were collected and analyzed thereafter. Up-to-date advancement on KD's diagnosis and therapy would also be reviewed. Results Our case, a 61-year-old male, was initially misdiagnosed as lung cancer with mediastinal metastasis in 2008, but histopathology had confirmed only eosinophil infiltration in enlarged mediasinal lymph nodes, no malignant cells were identified. In the year 2010, he complained bilateral orbital masses, one of which was surgically removed, and was later confirmed as Kimura's disease by histopathology. Clinical features of 4 patients, including our case and the other 3 retrieved in literatures, were available, 2 of whom were misdiagnosed as lung cancer while the other 2 as lymphoma in the beginning. All the 4 patients were responsive to steroid therapy. Conclusions Kimura's disease could be associated with mediastinal lymphadenopathy which may confuse the physicians in diagnosing. Newly developed minimal invasive approaches such as endoscopic ultrasound-guided fine needle aspiration (EUS-FNA and endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA are helpful for the differential diagnosis.
Full Text Available Creutzfeldt-Jakob disease (CJD is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In India, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of Mental Health and Neurosciences (NIMHANS, Bangalore recorded 69 cases of CJD from different parts of India in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of Neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 (+/- 7.32 years and there were 5 females and 5 males. Myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 (+/- 6.11 months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. Brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE were noted.
Shera, Irfan Ali; Khurshid, Sheikh Mudassir
Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. Agammaglobulinemia is most commonly associated with diffuse nodular lymphoid hyperplasia. Duodenal polyps are a rare entity; however, due to wide use of esophagogastroduodenoscopy, incidental diagnosis of duodenal polyps appears to be increasing. Although inflammatory duodenal polyposis has been reported in the literature, its association with common variable immunodeficiency has not been reported till date to the best of our knowledge. We report a case of a 59-year-old male with chronic symptoms of agammaglobulinemia associated with inflammatory duodenal polyposis. PMID:28163721
Gautier, Magali; Michel, Justin; Normand, Anne-Cécile; Cassagne, Carole; Piarroux, Renaud; Ranque, Stéphane
A sinusitis caused by Cochliobolus hawaiiensis (anamorph: Bipolaris hawaiiensis) was diagnosed in metropolitan France in a patient originating from New Caledonia. The patient completely recovered after surgical treatment consisting in marsupialization of the mucoceles and removal of the fungus balls located in the left nasal cavity and the left maxilla and ethmoid sinuses. One year after, both endoscopic examination and CT scan of the sinuses were normal. Various clinical presentations of diseases associated with C. hawaiiensis have been reported. A review of the literature indicates that although C. hawaiiensis is very rarely reported in Europe, it is one of the major rhinosinusitis agents in areas with a relatively warmer climate, such as India or Southwestern USA. This is the first report of a sinusitis caused by C. hawaiiensis diagnosed in France, with a total recovery outcome.
Irfan Ali Shera
Full Text Available Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. Agammaglobulinemia is most commonly associated with diffuse nodular lymphoid hyperplasia. Duodenal polyps are a rare entity; however, due to wide use of esophagogastroduodenoscopy, incidental diagnosis of duodenal polyps appears to be increasing. Although inflammatory duodenal polyposis has been reported in the literature, its association with common variable immunodeficiency has not been reported till date to the best of our knowledge. We report a case of a 59-year-old male with chronic symptoms of agammaglobulinemia associated with inflammatory duodenal polyposis.