WorldWideScience

Sample records for chronic granulomatous disease

  1. Chronic granulomatous disease

    Science.gov (United States)

    CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis ... In chronic granulomatous disease (CGD), immune system cells called ... some types of bacteria and fungi. This disorder leads to long- ...

  2. Chronic Granulomatous Disease (CGD)

    Science.gov (United States)

    ... Share this: Main Content Area Chronic Granulomatous Disease (CGD) Phagocyte (purple) engulfing Staphylococcus aureus bacteria (yellow). Credit: NIAID CGD is a genetic disorder in which white blood ...

  3. Genetics Home Reference: chronic granulomatous disease

    Science.gov (United States)

    ... for This Condition autosomal recessive chronic granulomatous disease CGD granulomatous disease, chronic X-linked chronic granulomatous disease ... Network Patient Support and Advocacy Resources (6 links) CGD Society Immune Deficiency Foundation International Patient Organisation for ...

  4. Chronic granulomatous disease

    International Nuclear Information System (INIS)

    Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency characterized by recurrent bacterial and fungal infections as well as granuloma formation. The manifestations of this disease can involve single or multiple organ systems. The lungs are the most commonly affected organ; however, lymphatic, hepatic, skeletal, gastrointestinal, genitourinary, head and neck, and central nervous system involvement have also been described. Most patients present with symptoms in their first few years of life. Due to the nonspecific manner in which patients present, the pediatric radiologist may be among the first to recognize the pattern of infection, inflammation, and granuloma formation leading to a diagnosis of CGD. The purpose of this paper is to review the imaging findings of CGD that can manifest throughout the body. (orig.)

  5. Chronic granulomatous disease

    Energy Technology Data Exchange (ETDEWEB)

    Towbin, Alexander J. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Chaves, Ian [Advocate Illinois Masonic Medical Center, Department of Internal Medicine, Chicago, IL (United States)

    2010-05-15

    Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency characterized by recurrent bacterial and fungal infections as well as granuloma formation. The manifestations of this disease can involve single or multiple organ systems. The lungs are the most commonly affected organ; however, lymphatic, hepatic, skeletal, gastrointestinal, genitourinary, head and neck, and central nervous system involvement have also been described. Most patients present with symptoms in their first few years of life. Due to the nonspecific manner in which patients present, the pediatric radiologist may be among the first to recognize the pattern of infection, inflammation, and granuloma formation leading to a diagnosis of CGD. The purpose of this paper is to review the imaging findings of CGD that can manifest throughout the body. (orig.)

  6. Chronic granulomatous disease associated with chronic glomerulonephritis

    DEFF Research Database (Denmark)

    Frifelt, J J; Schønheyder, Henrik Carl; Valerius, Niels Henrik;

    1985-01-01

    A boy with chronic granulomatous disease (CGD) developed glomerulonephritis at the age of 12 years. The glomerulonephritis progressed to terminal uraemia at age 15 when maintenance haemodialysis was started. The clinical course was complicated by pulmonary aspergillosis and Pseudomonas septicaemia...

  7. Chronic granulomatous disease of childhood

    International Nuclear Information System (INIS)

    Chronic granulomatous disease (CGD) of childhood is a rare entity. The disease is characterized by recurrent infections with granuloma and abscess formation caused by an inherited defective neutrophil leukocyte function. The most common sites of involvements are the lungs, lymph nodes, skin, liver, spleen and bones. Rarely are other organs affected. Two children with CGD are presented. The children were cousins, the older with bone, lung and splenic involvement. The younger had circumferential thickening of the gastric antrum. (orig./GDG)

  8. Aspergillosis in Chronic Granulomatous Disease

    OpenAIRE

    Jill King; Henriet, Stefanie S. V.; Adilia Warris

    2016-01-01

    Patients with chronic granulomatous disease (CGD) have the highest life-time incidence of invasive aspergillosis and despite the availability of antifungal prophylaxis, infections by Aspergillus species remain the single most common infectious cause of death in CGD. Recent developments in curative treatment options, such as haematopoietic stem cell transplantation, will change the prevalence of infectious complications including invasive aspergillosis in CGD patients. However, invasive asperg...

  9. Granulomatous cystitis in chronic granulomatous disease: Ultrasound diagnosis

    International Nuclear Information System (INIS)

    Chronic granulomatous disease (CGD) is a fatal hereditary disease of childhood characterized by chronic recurrent bacterial infections. Involvement of the genitourinary tract is uncommon. We report a child with CGD with granulomatous cystitis demonstrated by both ultrasound and computed tomography. (orig.)

  10. Aspergillosis in Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Jill King

    2016-05-01

    Full Text Available Patients with chronic granulomatous disease (CGD have the highest life-time incidence of invasive aspergillosis and despite the availability of antifungal prophylaxis, infections by Aspergillus species remain the single most common infectious cause of death in CGD. Recent developments in curative treatment options, such as haematopoietic stem cell transplantation, will change the prevalence of infectious complications including invasive aspergillosis in CGD patients. However, invasive aspergillosis in a previously healthy host is often the first presenting feature of this primary immunodeficiency. Recognizing the characteristic clinical presentation and understanding how to diagnose and treat invasive aspergillosis in CGD is of utmost relevance to improve clinical outcomes. Significant differences exist in fungal epidemiology, clinical signs and symptoms, and the usefulness of non-culture based diagnostic tools between the CGD host and neutropenic patients, reflecting underlying differences in the pathogenesis of invasive aspergillosis shaped by the nicotinamide adenine dinucleotide phosphate (NADPH-oxidase deficiency.

  11. Invasive mucormycosis in chronic granulomatous disease.

    Science.gov (United States)

    Al-Otaibi, Abdulnasir M; Al-Shahrani, Dayel A; Al-Idrissi, Eman M; Al-Abdely, Hail M

    2016-05-01

    Mucormycosis is a rare opportunistic fungal infection that occurs in certain immunocompromised patients. We present 2 cases of invasive mucormycosis due to Rhizopus spp. in patients with chronic granulomatous disease (CGD) and discuss their clinical presentation, management challenges, and outcomes. PMID:27146621

  12. Chronic granulomatous disease with gastric antral narrowing

    International Nuclear Information System (INIS)

    Marked narrowing of the gastric antrum produced vomiting in a boy with chronic granulomatous disease; the antral stenosis resolved after five months of medical management. A review of the seven previously reported cases indicates that this uncommon lesion may be self-limited and should be given an exhaustive trial of nonsurgical therapy, in view of the high morbidity of surgery in these children. Antibiotics may speed resolution. (orig.)

  13. Recent advances in chronic granulomatous disease.

    Science.gov (United States)

    Goldblatt, David

    2014-11-01

    Chronic Granulomatous Disease (CGD) is a primary immunodeficiency caused by abnormities in the NADPH Oxidase that is involved in the respiratory burst responsible for initiating the killing of microbes ingested by phagocytic cells. The hallmark of CGD is recurrent infection but the inflammatory complications can prove difficult to treat. New insights into the mechanisms responsible for the inflammatory complications have led to new therapies. The treatment of CGD colitis with an anti-tumour necrosis alpha agent has been shown to be successful but associated with significant infectious complications. Haematopoietic stem cell transplants offer the possibility of cure for those with ether a matched or unrelated donor transplant, with results of the latter improving significantly over recent years. Gene Therapy offers the promise of cure without the need for a transplant but better vectors are required. PMID:25264161

  14. Carbon Nanotubes and Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Barbara P. Barna

    2014-06-01

    Full Text Available Use of nanomaterials in manufactured consumer products is a rapidly expanding industry and potential toxicities are just beginning to be explored. Combustion-generated multiwall carbon nanotubes (MWCNT or nanoparticles are ubiquitous in non-manufacturing environments and detectable in vapors from diesel fuel, methane, propane, and natural gas. In experimental animal models, carbon nanotubes have been shown to induce granulomas or other inflammatory changes. Evidence suggesting potential involvement of carbon nanomaterials in human granulomatous disease, has been gathered from analyses of dusts generated in the World Trade Center disaster combined with epidemiological data showing a subsequent increase in granulomatous disease of first responders. In this review we will discuss evidence for similarities in the pathophysiology of carbon nanotube-induced pulmonary disease in experimental animals with that of the human granulomatous disease, sarcoidosis.

  15. Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen

    OpenAIRE

    Reichenbach, J.; Lopatin, U; Mahlaoui, N.; Beovic, B; Siler, U; Zbinden, R.; Seger, R.A.; Galmiche, L; Brousse, N; Kayal, S.; Güngör, T; Blanche, S; Holland, S M

    2009-01-01

    BACKGROUND: Chronic granulomatous disease (CGD) is a rare inherited disease of the phagocyte NADPH oxidase system that causes defective production of toxic oxygen metabolites, impaired bacterial and fungal killing, and recurrent life-threatening infections, mostly by catalase-producing organisms. We report for the first time, to our knowledge, chronic infections with Actinomyces species in 10 patients with CGD. Actinomycosis is a chronic granulomatous condition that commonly manifests as cerv...

  16. Methylotroph Infections and Chronic Granulomatous Disease.

    Science.gov (United States)

    Falcone, E Liana; Petts, Jennifer R; Fasano, Mary Beth; Ford, Bradley; Nauseef, William M; Neves, João Farela; Simões, Maria João; Tierce, Millard L; de la Morena, M Teresa; Greenberg, David E; Zerbe, Christa S; Zelazny, Adrian M; Holland, Steven M

    2016-03-01

    Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by a defect in production of phagocyte-derived reactive oxygen species, which leads to recurrent infections with a characteristic group of pathogens not previously known to include methylotrophs. Methylotrophs are versatile environmental bacteria that can use single-carbon organic compounds as their sole source of energy; they rarely cause disease in immunocompetent persons. We have identified 12 infections with methylotrophs (5 reported here, 7 previously reported) in patients with CGD. Methylotrophs identified were Granulibacter bethesdensis (9 cases), Acidomonas methanolica (2 cases), and Methylobacterium lusitanum (1 case). Two patients in Europe died; the other 10, from North and Central America, recovered after prolonged courses of antimicrobial drug therapy and, for some, surgery. Methylotrophs are emerging as disease-causing organisms in patients with CGD. For all patients, sequencing of the 16S rRNA gene was required for correct diagnosis. Geographic origin of the methylotroph strain may affect clinical management and prognosis. PMID:26886412

  17. Molecular diagnosis of chronic granulomatous disease.

    Science.gov (United States)

    Roos, D; de Boer, M

    2014-02-01

    Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia and Salmonella species. CGD is a rare (∼1:250 000 births) disease caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. Molecular diagnosis of CGD involves measuring NADPH oxidase activity in phagocytes, measuring protein expression of NADPH oxidase components and mutation analysis of genes encoding these components. Residual oxidase activity is important to know for estimation of the clinical course and the chance of survival of the patient. Mutation analysis is mandatory for genetic counselling and prenatal diagnosis. This review summarizes the different assays available for the diagnosis of CGD, the precautions to be taken for correct measurements, the flow diagram to be followed, the assays for confirmation of the diagnosis and the determinations for carrier detection and prenatal diagnosis. PMID:24016250

  18. Pericardial effusions in two boys with chronic granulomatous disease

    International Nuclear Information System (INIS)

    Pericardial involvement in chronic granulomatous disease (CGD) is very rare. We present two children with known CGD and pericardial effusions in whom no microbial cause for the effusions was found. (orig.)

  19. Pericardial effusions in two boys with chronic granulomatous disease.

    OpenAIRE

    Macedo, F.; McHugh, K; Goldblatt, D

    1999-01-01

    Pediatr Radiol. 1999 Nov;29(11):820-2. Pericardial effusions in two boys with chronic granulomatous disease. Macedo F, McHugh K, Goldblatt D. SourceDepartment of Radiology, Hospital Geral de Santo Antonio, Porto, Portugal. Abstract Pericardial involvement in chronic granulomatous disease (CGD) is very rare. We present two children with known CGD and pericardial effusions in whom no microbial cause for the effusions was found. PMID: 10552060 [PubMed - indexed for MEDLINE

  20. Chronic granulomatous disease presenting as retinal mass

    OpenAIRE

    Ahmad M. Mansour; Al Dairy, Mays; Hamam, Rola; Hidayat, Ahmed A

    2008-01-01

    1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrotizing granulomatous retinitis. Extensive workup and therapeutic trials failed to confirm the diagnosis of tuberculosis or sarcoidosis. Her 7-month brother and 4-year-old male cousin presented with nystagmus, poor vision, paravascular pigment...

  1. Chronic Granulomatous Disease as a Risk Factor for Autoimmune Disease

    OpenAIRE

    De Ravin, Suk See; Naumann, Nora; Cowen, Edward W.; Friend, Julia; Hilligoss, Dianne; Marquesen, Martha; Balow, James E.; Karyl S. Barron; Turner, Maria L.; Gallin, John I.; Malech, Harry L.

    2008-01-01

    Chronic granulomatous disease (CGD) is characterized by recurrent infections and granuloma formation. In addition, we have observed a number of diverse autoimmune conditions in our CGD population, suggesting that patients with CGD are at an elevated risk for development of autoimmune (AI) disorders. In this report, we describe antiphospholipid syndrome (aPL), recurrent pericardial effusion, juvenile idiopathic arthritis (JIA), IgA nephropathy, cutaneous lupus erythematosus, and autoimmune pul...

  2. Chronic Granulomatous Disease: Overview and Hematopoietic Stem Cell Transplant

    OpenAIRE

    Kang, Elizabeth M.; Marciano, Betty E; DeRavin, SukSee; Zarember, Kol; Holland, Steven M.; Malech, Harry L.

    2011-01-01

    Chronic Granulomatous Disease (CGD) still causes significant morbidity and mortality. The difficulty in considering high-risk yet curative treatments, such as allogeneic bone marrow transplantation, lies in the unpredictable courses of both CGD and bone marrow transplantation in different patients. Some CGD patients may have frequent infections and/or suffer from granulomatous or autoimmune disorders necessitating immunosuppressive therapy, but also experience long periods of relative good he...

  3. Corticosteroid Therapy for Liver Abscess in Chronic Granulomatous Disease

    OpenAIRE

    Leiding, Jennifer W; FREEMAN, ALEXANDRA F.; Marciano, Beatriz E.; Anderson, Victoria L.; Uzel, Gulbu; Malech, Harry L.; DeRavin, SukSee; Wilks, David; Venkatesan, Aradhana M.; Zerbe, Christa S.; Heller, Theo; Holland, Steven M.

    2011-01-01

    Liver abscesses in chronic granulomatous disease (CGD) are typically difficult to treat and often require surgery. We describe 9 X-linked CGD patients with staphylococcal liver abscesses refractory to conventional therapy successfully treated with corticosteroids and antibiotics. Corticosteroids may have a role in treatment of Staphylococcus aureus liver abscesses in CGD.

  4. Actinomyces and Nocardia Infections in Chronic Granulomatous Disease

    OpenAIRE

    Shahindokht Bassiri-Jahromi; Aida Doostkam

    2011-01-01

    Objective : Chronic granulomatous disease (CGD) is an inherited disorder of the Nicotinamide adenine dinucleotide phosphate reduced oxidase complex characterized by recurrent bacterial and fungal infections. Disseminated infection by combination of opportunistic agents is being increasingly reported in CGD patients. We presented in the retrospective review of medical records, the etiology, presentation, clinical characteristics the infections detected, predisposing condition and outcome of no...

  5. Chronic granulomatous disease presenting as refractory pneumonia in late adulthood

    OpenAIRE

    SARWAR, Ghulam; de Malmanche, Theo; Rassam, Loui; Grainge, Christopher; Williams, Andrew; Arnold, David

    2015-01-01

    We present a case of refractory pneumonia in an adult patient with underlying chronic granulomatous disease (CGD). Her lobectomy tissue grew B urkholderia cepacia and histopathology revealed diffuse severe pneumonic consolidation with suppurative/necrotizing granulomata. An initial attempt to find an underlying immune deficiency was unsuccessful. Following recurrent invasive infections, repeat immunological assessment revealed reduced neutrophil function, demonstrating skewed carrier status (...

  6. Current Concepts of Hyperinflammation in Chronic Granulomatous Disease

    OpenAIRE

    Nikolaus Rieber; Andreas Hector; Taco Kuijpers; Dirk Roos; Dominik Hartl

    2012-01-01

    Chronic granulomatous disease (CGD) is the most common inherited disorder of phagocytic functions, caused by genetic defects in the leukocyte nicotinamide dinucleotide phosphate (NADPH) oxidase. Consequently, CGD phagocytes are impaired in destroying phagocytosed microorganisms, rendering the patients susceptible to bacterial and fungal infections. Besides this immunodeficiency, CGD patients suffer from various autoinflammatory symptoms, such as granuloma formation in the skin or urinary trac...

  7. Invasive fungal infections in patients with chronic granulomatous disease

    NARCIS (Netherlands)

    Henriet, S.S.V.; Verweij, P.E.; Holland, S.M.; Warris, A.

    2013-01-01

    Invasive fungal infections are a major threat for chronic granulomatous disease (CGD) patients. The present study provides a comprehensive overview of published invasive fungal infections in the CGD host through an extensive review of epidemiological, clinical, diagnostic and therapeutic data. In ad

  8. Interstitial Lung Disease in a Patient with Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Mozhgan Moghtaderi

    2012-03-01

    Full Text Available Background: Chronic granulomatous disease (CGD is an inherited phagocytes defect, characterized by defects of NADPH-oxidase and inability of bacterial killing, which leads to recurrent life-threatening infections. Respiratory problems, which are the major cause of morbidity in CGD, usually result from recurrent severe infections; however, vigorous inflammatory response could also cause respiratory diseases.Case Presentation: Herein, an 11 year-old patient with CGD is presented who suffered from chronic cough and dyspnea for 7 years. Considering the results of chest X-ray, high-resolution computed tomography, and pulmonary function test, the diagnosis of interstitial lung disease was made.Conclusion: Early recognition of manifestations associated with CGD and appropriate treatment could prevent further complications and reduce morbidity and mortality in this group of patients.

  9. Ulcerative colitis associated with chronic granulomatous disease: case report

    OpenAIRE

    Imanzade, Farid; Sayarri, Aliakbar; Tajik, Pantea

    2015-01-01

    Chronic Granulomatous Disease (CGD) is an inherited primary immunodeficiency disease which increases the body’s susceptibility to infections caused by certain bacteria and fungi. CGD is a rare disease, caused by four genes, one type is 1X linked and the other three are “autosomal recessive”. Although clinical presentation is variable, but characteristic features are recurrent pneumonia, lymphadenitis, hepatic or other abscesses. Gastrointestinal tract symptoms are common in x-linked recessive...

  10. Chronic granulomatous disease with recurrent hepatic abscesses in an adult

    International Nuclear Information System (INIS)

    Chronic granulomatous disease (CGD) is a condition of inability to deal with bacterial and fungal infections, due to defective respiratory burst in neutrophils leading to recurrent cutaneous and visceral infections. Usually a disease of childhood, but patients nowadays may survive to adulthood and diagnosis might be difficult if not considered. We describe a 20-year-old female with previously undiagnosed CGD, presenting with recurrent cutaneous and hepatic abscesses. (author)

  11. Deficient autophagy unravels the ROS paradox in chronic granulomatous disease

    OpenAIRE

    Van De Veerdonk, Frank L.; Dinarello, Charles A.

    2014-01-01

    Autophagy defects resulting in inflammation appear to be a key feature in the pathogenesis of Crohn colitis. An inflammatory colitis indistinguishable from Crohn disease is described in patients with chronic granulomatous disease (CGD). Patients with CGD have a mutated NADPH complex and are therefore deficient in reactive oxygen species (ROS) production; however, the underlying mechanism for the inflammatory colitis in CGD remained unknown. In a recent study, our group reported that NADPH-dep...

  12. Atypical presentation of chronic granulomatous disease with Burkholderia cepacia.

    Science.gov (United States)

    Vining, Mac; Sharma, Nirupma; Guill, Margaret

    2014-01-01

    Chronic granulomatous disease (CGD) is a rare inherited disorder of neutrophil oxidative burst. In patients with CGD, phagocyte destruction of catalase-producing organisms is impaired, resulting in recurrent and potentially fatal infections. Burkholderia cepacia, a catalase-producing organism, is known to infect patients with dysfunctional immune systems. We report a case of a 3-year-old boy with this rare infection that unravelled the diagnosis of CGD. PMID:25103315

  13. Recurrent Granulibacter bethesdensis Infections and Chronic Granulomatous Disease

    OpenAIRE

    Greenberg, David E.; Shoffner, Adam R.; Zelazny, Adrian M.; Fenster, Michael E.; Zarember, Kol A.; Stock, Frida; Ding, Li; Marshall-Batty, Kimberly R.; Wasserman, Richard L.; Welch, David F.; Kanakabandi, Kishore; Sturdevant, Dan E.; Virtaneva, Kimmo; Porcella, Stephen F.; Murray, Patrick R.

    2010-01-01

    Chronic granulomatous disease (CGD) is characterized by frequent infections, most of which are curable. Granulibacter bethesdensis is an emerging pathogen in patients with CGD that causes fever and necrotizing lymphadenitis. However, unlike typical CGD organisms, this organism can cause relapse after clinical quiescence. To better define whether infections were newly acquired or recrudesced, we use comparative bacterial genomic hybridization to characterize 11 isolates obtained from 5 patient...

  14. Gallium-67 scintigraphy in children with chronic granulomatous disease

    International Nuclear Information System (INIS)

    We review our experience with Gallium scintigraphy in three children with chronic granulomatous disease, an entity characterized by defective neutrophils and recurrent infection. Radiogallium was found to localize in inflammation in these patients. Hematologic disordrs with specific structural of biochemical defects in their polymorphonuclear leukocytes may provide important information as to how these cells contribute to the accumulation of Gallium-67 in inflammation. (orig./MG)

  15. Chronic Granulomatous Disease: Lessons from a Rare Disorder

    OpenAIRE

    Segal, B H; Veys, P.; Malech, H; Cowan, M J

    2011-01-01

    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency with x-linked or autosomal recessive inheritance involving defects in genes encoding phox proteins which are the subunits of the phagocyte NADPH oxidase. This results in failure to produce superoxide anion and downstream antimicrobial oxidant metabolites and to activate antimicrobial proteases. Affected patients are susceptible to severe, life-threatening bacterial and fungal infections and excessive inflammation character...

  16. Pulmonary aspergillosis appearing as chronic nodular disease in chronic granulomatous disease

    International Nuclear Information System (INIS)

    Chronic nodular pneumonia is unusual in children. Three children are described who presented with diffuse nodular pulmonary disease and in whom lung biopsy demonstrated Aspergillus infection. One child was known to have chronic granulomatous disease of childhood (CGD) and further investigation demonstrated CGD in the other two patients as well. These cases indicate that Aspergillus infection and CGD should be considered in the differential diagnosis in children who present with chronic diffuse nodular pneumonia. (orig.)

  17. Chronic granulomatous disease: the European experience.

    Directory of Open Access Journals (Sweden)

    J Merlijn van den Berg

    Full Text Available CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocytosed micro-organisms. CGD patients lack this mechanism, which leads to life-threatening infections and granuloma formation. However, a clear picture of the clinical course of CGD is hampered by its low prevalence (approximately 1:250,000. Therefore, extensive clinical data from 429 European patients were collected and analyzed. Of these patients 351 were males and 78 were females. X-linked (XL CGD (gp91(phox deficient accounted for 67% of the cases, autosomal recessive (AR inheritance for 33%. AR-CGD was diagnosed later in life, and the mean survival time was significantly better in AR patients (49.6 years than in XL CGD (37.8 years, suggesting a milder disease course in AR patients. The disease manifested itself most frequently in the lungs (66% of patients, skin (53%, lymph nodes (50%, gastrointestinal tract (48% and liver (32%. The most frequently cultured micro-organisms per episode were Staphylococcus aureus (30%, Aspergillus spp. (26%, and Salmonella spp. (16%. Surprisingly, Pseudomonas spp. (2% and Burkholderia cepacia (<1% were found only sporadically. Lesions induced by inoculation with BCG occurred in 8% of the patients. Only 71% of the patients received antibiotic maintenance therapy, and 53% antifungal prophylaxis. 33% were treated with gamma-interferon. 24 patients (6% had received a stem cell transplantation. The most prominent reason of death was pneumonia and pulmonary abscess (18/84 cases, septicemia (16/84 and brain abscess (4/84. These data provide further insight in the clinical course of CGD in Europe and hopefully can help to increase awareness and optimize the treatment of these patients.

  18. Ulcerative colitis associated with chronic granulomatous disease: case report.

    Science.gov (United States)

    Imanzade, Farid; Sayarri, Aliakbar; Tajik, Pantea

    2015-01-01

    Chronic Granulomatous Disease (CGD) is an inherited primary immunodeficiency disease which increases the body's susceptibility to infections caused by certain bacteria and fungi. CGD is a rare disease, caused by four genes, one type is 1X linked and the other three are "autosomal recessive". Although clinical presentation is variable, but characteristic features are recurrent pneumonia, lymphadenitis, hepatic or other abscesses. Gastrointestinal tract symptoms are common in x-linked recessive form of CGD. These include gastric and esophageal obstruction and inflammatory bowel disease. GI involvement including small and large intestines, the findings of luminal narrowing and the presence of granuloma can make it difficult to distinguish from Crohn's disease. On the other hands according to the literature ulcerative colitis is rarely reported in patients with CGD. Our case presented with ulcerative colitis with CGD. PMID:26328046

  19. Chronic granulomatous disease: Value of the newer imaging modalities

    International Nuclear Information System (INIS)

    The contribution of computed tomography (CT), ultrasound (US), and nuclear medicine studies in the evaluation and management of seven patients with chronic granulatous disease was retrospectively reviewed. These modalities proved valuable in detecting sites of infection, particularly in the abdomen. Three patients had liver abscesses, two had suppurative retroperitoneal lymphadenopathy, one had empyema, and one hand a scrotal abscess. Furthermore, CT or US-guided percutaneous aspiration and/or drainage of infected material was successfully performed on three separate occasions in a single patient, obviating the need for surgery. The newer imaging modalities are useful in the prompt diagnosis and in some instances non-operative therapy of complications of chronic granulomatous disease. (orig.)

  20. Disseminated aspergillosis as the herald manifestation of chronic granulomatous disease in an adult patient.

    Directory of Open Access Journals (Sweden)

    Ilad Alavi Darazam

    2014-02-01

    Full Text Available Chronic granulomatous disease is an inherited defect in intracellular killing of ingested microorganisms characterized by recurrent life threatening bacterial and fungal infections including invasive aspergillosis in early childhood. We report a disseminated aspergillosis as the representative of adult onset chronic granulomatous disease without previous infection, with dramatic response to combination of antifungal and interferon therapy.

  1. Deficient autophagy unravels the ROS paradox in chronic granulomatous disease.

    Science.gov (United States)

    van de Veerdonk, Frank L; Dinarello, Charles A

    2014-06-01

    Autophagy defects resulting in inflammation appear to be a key feature in the pathogenesis of Crohn colitis. An inflammatory colitis indistinguishable from Crohn disease is described in patients with chronic granulomatous disease (CGD). Patients with CGD have a mutated NADPH complex and are therefore deficient in reactive oxygen species (ROS) production; however, the underlying mechanism for the inflammatory colitis in CGD remained unknown. In a recent study, our group reported that NADPH-dependent ROS deficiency results in autophagic dysfunction that subsequently contributes to increased IL1B/interleukin 1β production. Mice deficient in the NADPH-complex component NCF4/p40phox, and CGD patients with a defect in NCF4 display minimal recruitment of LC3 to phagosomes in response to internalized bacteria and fungi. Human monocytes from patients with CGD with defective LC3 recruitment show increased IL1B production after LPS stimulation. Blocking IL1 protects NCF4-deficient mice from experimental colitis; importantly, improved clinical outcome in 2 CGD patients with colitis is also observed with IL1 blockade. Moreover, blocking IL1 restores defective autophagy in CGD mice and cells from patients with CGD. Thus, autophagic dysfunction underlies the pathogenesis of granulomatous colitis in CGD, and blocking IL1 can be used to treat CGD colitis. PMID:24879159

  2. Report of 2 Cases of Chronic Granulomatous Disease in Adults

    Directory of Open Access Journals (Sweden)

    M. Eskandarlou

    2007-10-01

    Full Text Available Introduction: Chronic granulomatous disease (CGD is an inherited disorder of phagocyte function . The defect of intracellular killing in phagocytes is the cause of recurrent pyogenic infection of patients . Clinical presentations and infections mostly occur during the first 2 year of life and early diagnosis of disease can prevent or decrease the rates of recurrence of infections and mortality.Case Report: This case report represents a 21 years old man who was admitted and underwent repeated surgery due to pyogenic infections for CGD. The second case was his 20 years old sister who was underwent surgery due to cervical abscess.Conclusion: This case report implies that CGD may rarely go undiagnosed until adulthood, so in adults who develop recurrent pyogenic infection, we should be suspicious to CGD, and Nitroblue tetrazolium test is the convenient method for diagnosis.

  3. Recurrent Burkholderia Infection in Patients with Chronic Granulomatous Disease: 11-Year Experience at a Large Referral Center

    OpenAIRE

    Greenberg, David E.; Goldberg, Joanna B.; Stock, Frida; Murray, Patrick R.; Holland, Steven M.; LiPuma, John J.

    2009-01-01

    The epidemiology of Burkholderia infection in persons with chronic granulomatous disease is poorly understood. We used species-specific polymerase chain reaction–based assays and genotyping analyses to identify 32 strains representing 9 Burkholderia species among 50 isolates recovered from 18 patients with chronic granulomatous disease. We found that recurrent pulmonary infection with distinct Burkholderia strains is common in chronic granulomatous disease.

  4. Chronic Granulomatous Disease: A Report of 5 Cases

    Directory of Open Access Journals (Sweden)

    S Arshi

    1986-07-01

    Full Text Available In the last 2 years chronic granulomatous disease (CGD was diagnosed in 5 children in the childrens medical center in Tehran. All of them had been referred because of severe recurrent infections. 4 patients were male, their parents being first cousins. Laboratory tests were normal for chemotaxis, serum complements and T-cells. NBT tests were severely abnormal. 2 patients were tested for cell antigen, the results being negative in both of them. 4 patients, in whom serum immunoglobulins were studied, 2 showed high immunoglobulin levels, one had normal values and one was immune deficient. The treatment consisted in intravenous antibiotics for a long period and surgical intervention where needed. The immunodeficient patient improved by ?-globulin injection.

  5. Current Concepts of Hyperinflammation in Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Nikolaus Rieber

    2012-01-01

    Full Text Available Chronic granulomatous disease (CGD is the most common inherited disorder of phagocytic functions, caused by genetic defects in the leukocyte nicotinamide dinucleotide phosphate (NADPH oxidase. Consequently, CGD phagocytes are impaired in destroying phagocytosed microorganisms, rendering the patients susceptible to bacterial and fungal infections. Besides this immunodeficiency, CGD patients suffer from various autoinflammatory symptoms, such as granuloma formation in the skin or urinary tract and Crohn-like colitis. Owing to improved antimicrobial treatment strategies, the majority of CGD patients reaches adulthood, yet the autoinflammatory manifestations become more prominent by lack of causative treatment options. The underlying pathomechanisms driving hyperinflammatory reactions in CGD are poorly understood, but recent studies implicate reduced neutrophil apoptosis and efferocytosis, dysbalanced innate immune receptors, altered T-cell surface redox levels, induction of Th17 cells, the enzyme indolamine-2,3-dioxygenase (IDO, impaired Nrf2 activity, and inflammasome activation. Here we discuss immunological mechanisms of hyperinflammation and their potential therapeutic implications in CGD.

  6. Phellinus tropicalis abscesses in a patient with chronic granulomatous disease.

    Science.gov (United States)

    Ramesh, Manish; Resnick, Elena; Hui, Yiqun; Maglione, Paul J; Mehta, Harshna; Kattan, Jacob; Bouvier, Nicole M; LaBombardi, Vincent; Victor, Tanya R; Chaturvedi, Sudha; Cunningham-Rundles, Charlotte

    2014-02-01

    Chronic Granulomatous Disease (CGD), caused by genetic defects in components of the phagocyte NADPH oxidase pathway, leads to recurrent life-threatening bacterial and invasive fungal infections. While a number of unique pathogens have been associated with this disease, the causative organisms may be difficult to identify. Here, we present a 24 year old male with known X-linked CGD who concurrently developed a cervical abscess and an abscess in the subcutaneous tissues of the right hip, both of which were surgically drained. Cultures failed to identify any organisms. He was treated empirically with ertapenem but the hip abscess recurred at the original site and in contiguous dependent areas in the posterior thigh and knee. A filamentous organism was observed microscopically, initially considered a contaminant, but on culture yielded a mold growth, identified as Phellinus tropicalis (synonym: Inonotus tropicalis) based on phenotypic and molecular methods. This is the third case report of human infection with P. tropicalis, all in subjects with CGD. The patient was treated with voriconazole with resolution of his symptoms. PMID:24310980

  7. Pulmonary manifestations in adult patients with chronic granulomatous disease.

    Science.gov (United States)

    Salvator, Hélène; Mahlaoui, Nizar; Catherinot, Emilie; Rivaud, Elisabeth; Pilmis, Benoit; Borie, Raphael; Crestani, Bruno; Tcherakian, Colas; Suarez, Felipe; Dunogue, Bertrand; Gougerot-Pocidalo, Marie-Anne; Hurtado-Nedelec, Margarita; Dreyfus, Jean-François; Durieu, Isabelle; Fouyssac, Fanny; Hermine, Olivier; Lortholary, Olivier; Fischer, Alain; Couderc, Louis-Jean

    2015-06-01

    Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by failure of superoxide production in phagocytic cells. The disease is characterised by recurrent infections and inflammatory events, frequently affecting the lungs. Improvement of life expectancy now allows most patients to reach adulthood. We aimed to describe the pattern of pulmonary manifestations occurring during adulthood in CGD patients. This was a retrospective study of the French national cohort of adult patients (≥16 years old) with CGD. Medical data were obtained for 67 adult patients. Pulmonary manifestations affected two-thirds of adult patients. Their incidence was significantly higher than in childhood (mean annual rate 0.22 versus 0.07, p=0.01). Infectious risk persisted despite anti-infectious prophylaxis. Invasive fungal infections were frequent (0.11 per year per patient) and asymptomatic in 37% of the cases. They often required lung biopsy for diagnosis (10 out of 30). Noninfectious respiratory events concerned 28% of adult patients, frequently associated with a concomitant fungal infection (40%). They were more frequent in patients with the X-linked form of CGD. Immune-modulator therapies were required in most cases (70%). Respiratory manifestations are major complications of CGD in adulthood. Noninfectious pulmonary manifestations are as deleterious as infectious pneumonia. A specific respiratory monitoring is necessary. PMID:25614174

  8. Phagocyte NADPH oxidase, chronic granulomatous disease and mycobacterial infections.

    Science.gov (United States)

    Deffert, Christine; Cachat, Julien; Krause, Karl-Heinz

    2014-08-01

    Infection of humans with Mycobacterium tuberculosis remains frequent and may still lead to death. After primary infection, the immune system is often able to control M. tuberculosis infection over a prolonged latency period, but a decrease in immune function (from HIV to immunosenescence) leads to active disease. Available vaccines against tuberculosis are restricted to BCG, a live vaccine with an attenuated strain of M. bovis. Immunodeficiency may not only be associated with an increased risk of tuberculosis, but also with local or disseminated BCG infection. Genetic deficiency in the reactive oxygen species (ROS)-producing phagocyte NADPH oxidase NOX2 is called chronic granulomatous disease (CGD). CGD is among the most common primary immune deficiencies. Here we review our knowledge on the importance of NOX2-derived ROS in mycobacterial infection. A literature review suggests that human CGD patient frequently have an increased susceptibility to BCG and to M. tuberculosis. In vitro studies and experiments with CGD mice are incomplete and yielded - at least in part - contradictory results. Thus, although observations in human CGD patients leave little doubt about the role of NOX2 in the control of mycobacteria, further studies will be necessary to unequivocally define and understand the role of ROS. PMID:24916152

  9. Upper gastrointestinal and ultrasound examinations of gastric antral involvement in chronic granulomatous disease

    International Nuclear Information System (INIS)

    Two brothers with chronic granulomatous disease of childhood are presented with circumferential gastric antral thickening demonstrated on sonography. Barium studies and sonography correlated well in one brother. The antral changes can resolve quickly without antibiotic therapy. (orig.)

  10. Pulmonary Aspergillus chest wall involvement in chronic granulomatous disease: CT and MRI findings

    International Nuclear Information System (INIS)

    Pulmonary Aspergillus infection in patients with chronic granulomatous disease tends to involve the chest wall and consequently carries a high mortality rate. We report the findings of computed tomography (CT) and magnetic resonance imaging (MRI) in three such cases. We suggest that CT and MRI have a complementary role in evaluating chest wall invasion by pulmonary Aspergillus infection in chronic granulomatous disease. (orig./GDG)

  11. Arachidonic acid metabolism in polymorphonuclear leukocytes from patients with chronic granulomatous disease.

    OpenAIRE

    Smith, D. M.; Walsh, C E; DeChatelet, L R; Waite, M.

    1983-01-01

    The effect of the calcium ionophore A23187 on the release and metabolism of [3H]arachidonic acid was examined in normal polymorphonuclear leukocytes and those obtained from patients with chronic granulomatous disease. The ionophore A23187 which stimulates oxidative metabolism in normal polymorphonuclear leukocytes was ineffective in increasing oxidative metabolism (chemiluminescence) in polymorphonuclear leukocytes from patients with chronic granulomatous disease. However, the ionophore A2318...

  12. Radiological findings of chronic granulomatous disease of childhood

    International Nuclear Information System (INIS)

    Chronic granulomatous disease(CGD) is a group of genetic disorders characterized by recurrent pyogenic infections of the respiratory tract, skin, and soft tissue. The aim of this study is to describe the radiological findings of CGD. We retrospectively analyzed radiological findings of 11 patients of CGD, which were diagnosed by nitroblue tetrazolium test. We analyzed the pattern of pneumonia on chest radiograph in all infants. Three cases of chest CT and one case of digital subtraction angiography were performed. According to infant's symptom, abdominal ultrasonography(n = 8), abdominal CT(n = 5), simple bone radiography(n = 2), and brain CT (n = 1) were performed. Repeated infiltration(100%), mass-like consolidation(73%), hilar or mediastinal lymph node largement(64%), scattered nodules(55%), cavity formation(27%), and pleural effusion(27%) were found on the chest radiographs(n = 11) and CT(n = 3). On the abdominal imagings(n = 8), there were hepatosplenomegaly(n = 6), calcification in the liver(n = 2) and kidney(n = 1), hepatic granuloma(n = 1) and renal abscess(n = 1). Two patients had osteomyelitis. There were findings of meningitis on brain CT(n 1). We believe that the combinations of these radiological findings may suggest the diagnosis of CGD in patients with history of reccurent infection

  13. Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus

    Directory of Open Access Journals (Sweden)

    Yavuz Köker m

    2009-03-01

    Full Text Available Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results. In a family whose first-born child died from X-CGD, fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS. Direct sequencing was used to detect the previously identified CYBB gene mutation. The NADPH oxidase activity in the neutrophils from the carrier mother and from the newborn was analyzed by the DHR assay. Our studies predicted that the fetus in question was not affected by chronic granulomatous disease, which was demonstrated to be correct at birth. For prenatal screening in a pregnant X-CGD carrier, direct sequencing is a good method for detecting the mutation in the fetal DNA. Postnatal confirmation of results with the DHR assay is more practical than mutation screening to show whether the newborn have normal NADPH oxidase activity or does not.

  14. Chronic granulomatous disease presenting as refractory pneumonia in late adulthood.

    Science.gov (United States)

    Sarwar, Ghulam; de Malmanche, Theo; Rassam, Loui; Grainge, Christopher; Williams, Andrew; Arnold, David

    2015-06-01

    We present a case of refractory pneumonia in an adult patient with underlying chronic granulomatous disease (CGD). Her lobectomy tissue grew B urkholderia cepacia and histopathology revealed diffuse severe pneumonic consolidation with suppurative/necrotizing granulomata. An initial attempt to find an underlying immune deficiency was unsuccessful. Following recurrent invasive infections, repeat immunological assessment revealed reduced neutrophil function, demonstrating skewed carrier status (lyonization) for X-linked CGD (only 3% normal cells). A pathogenic mutation in the CYBB gene was found on sequencing. CYBB gene encodes the gp91phox, a catalytic subunit of nicotinamide adenine dinucleotide phosphate-oxidase that produces reactive oxygen species in phagocytes. Lyonization increases with age, explaining the delayed clinical CGD. CGD is a rare neutrophil disorder that usually presents in early life with recurrent infections due to bacteria and fungi primarily involving lungs and skin. It is secondary to a defective NADPH oxidase system needed to kill intracellular organisms and activate the formation of neutrophil extracellular traps. PMID:26090111

  15. Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.

    Science.gov (United States)

    Chiriaco, Maria; Salfa, Irene; Di Matteo, Gigliola; Rossi, Paolo; Finocchi, Andrea

    2016-05-01

    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defects in the genes encoding any of the NADPH oxidase components responsible for the respiratory burst of phagocytic leukocytes. CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA, NCF1, NCF2, or NCF4 genes encoding p22(phox) , p47(phox) , p67(phox) , and p40(phox) , respectively. Patients suffering from this disease are susceptible to severe life-threatening bacterial and fungal infections and excessive inflammation characterized by granuloma formation in any organ, for instance, the gastrointestinal and genitourinary tract. An early diagnosis of and the prompt treatment for these conditions are crucial for an optimal outcome of affected patients. To prevent infections, CGD patients should receive lifelong antibiotics and antifungal prophylaxis. These two measures, as well as newer more effective antimicrobials, have significantly modified the natural history of CGD, resulting in a remarkable change in overall survival, which is now around 90%, reaching well into adulthood. At present, hematopoietic stem cell transplantation (HSCT) is the only definitive treatment that can cure CGD and reverse organ dysfunction. Timing, donor selection, and conditioning regimens remain the key points of this therapy. In recent years, gene therapy (GT) for XR-CGD has been proposed as an alternative to HSCT for CGD patients without a matched donor. After the failure of the first trials performed with retroviral vectors, some groups have proposed the use of regulated SIN-lentiviral vectors targeting gp91(phox) expression in myeloid cells to increase the safety and efficacy of the GT protocols. PMID:26680691

  16. [Blau syndrome--a chronic granulomatous, genetic disease].

    Science.gov (United States)

    Milman, Nils; Byg, Keld-Erik

    2006-10-16

    Blau syndrome is a rare hereditary granulomatous disease presenting in patients of young age with exanthema, granulomatous arthritis and uveitis. Genetic analysis has shown an autosomal dominant inheritance and a number of specific mutations on chromosome 16q in codon 334, of which the most predominant are R334W and R334Q. Blau syndrome exists in Caucasian, Asian and Afro-American families, and de novo mutations have been reported. The estimated minimum incidence in Denmark is 0.05 per 100,000 person-years. Blau syndrome has pathological, clinical and therapeutic features in common with sarcoidosis but rarely involves the lungs or other parenchymatous organs. Discrimination between Blau syndrome and early-onset sarcoidosis should rely on chromosome analysis. PMID:17069723

  17. Actinomyces and Nocardia infections in chronic granulomatous disease

    Directory of Open Access Journals (Sweden)

    Shahindokht Bassiri-Jahromi

    2011-01-01

    Full Text Available Objective : Chronic granulomatous disease (CGD is an inherited disorder of the Nicotinamide adenine dinucleotide phosphate reduced oxidase complex characterized by recurrent bacterial and fungal infections. Disseminated infection by combination of opportunistic agents is being increasingly reported in CGD patients. We presented in the retrospective review of medical records, the etiology, presentation, clinical characteristics the infections detected, predisposing condition and outcome of nocardiosis and actinomycosis involved in a group of pediatric patients diagnosed with CGD. Materials and Methods: The clinical presentation of CGD-related infections was reviewed retrospectively from the medical records of all 12 patients with CGD. We studied respectively 12 patients between 2001 and 2008, and we analyzed two pediatric patients with CGD who acquired Nocardia and Actinomyces infections, and their clinical and microbiological characteristics were described. The material for investigations was collected from scrapings, crusts, pus from subcutaneous abscesses or exudation from sinus tracts, surgical debridement, and biopsy specimens. The microbiological diagnosis was determined by biochemical tests, histology, microscopy, and culture of clinical samples. Results: The medical records of 12 diagnosed CGD patients with suspected nocardiosis or actinomycosis were reviewed. One patient was diagnosed with actinomycosis and one patient with nocardiosis. Patients consisted of seven males and five females with ranging ages of 3 to 18 years. Nocardiosis and actinomycosis isolated in the two patients were confirmed by histology and culture methods. Neutrophil oxidative burst were absent (NBT=0 in both patients. The most common manifestations of CGD due to fungal infections, actinomycosis, and nocardiosis were osteomyelitis (42.8%, pulmonary infections (28.6%, lymphadenopathy (14.3%, and skin involvement (14.3% during their illness. Conclusion: Nocardiosis

  18. Concomitant use of corticosteroid and antimicrobials for liver abscesses in patients with chronic granulomatous disease

    OpenAIRE

    Shin, Kyung-Sue; Lee, Mu Suk

    2016-01-01

    Chronic granulomatous disease (CGD) is a rare inherited disorder caused by defective nicotinamide adenine dinucleotide phosphate oxidase enzyme and characterized by recurrent bacterial and fungal infections. Although liver abscess is a common manifestation of CGD, its management in CGD patients is not well-defined. In addition, the generalized guidelines for treating liver abscesses do not necessarily apply to CGD patients. Corticosteroids are commonly used to control granulomatous complicati...

  19. Recombinant interferon gamma augments phagocyte superoxide production and X-chronic granulomatous disease gene expression in X-linked variant chronic granulomatous disease.

    OpenAIRE

    Ezekowitz, R A; Orkin, S H; Newburger, P E

    1987-01-01

    We examined the potential of interferon gamma (IFN-gamma) to ameliorate the physiologic defect of chronic granulomatous disease (CGD) by studying its effects on CGD phagocyte superoxide generation, NADPH oxidase kinetics, cytochrome b559 content, and expression of X-CGD (the gene for the X-linked disease). Granulocytes and macrophages from three patients in two kindreds with "variant" X-linked CGD (i.e., with very low, but detectable, baseline superoxide-generating activity) responded to IFN-...

  20. Cognitive function in patients with chronic granulomatous disease: a preliminary report.

    Science.gov (United States)

    Pao, Maryland; Wiggs, Edythe A; Anastacio, Melissa M; Hyun, Jenny; DeCarlo, Ellen S; Miller, Judi T; Anderson, Victoria L; Malech, Harry L; Gallin, John I; Holland, Steven M

    2004-01-01

    Chronic granulomatous disease is an inherited immunodeficiency in which phagocytes fail to generate superoxide and its metabolites, resulting in severe recurrent infections and frequent hospitalizations. Chronic illness and frequent hospitalizations can affect growth and development as well as social and educational opportunities. Since no data have been reported on cognitive functioning in patients with this illness, the authors sought to examine cognitive function in a group of patients with chronic granulomatous disease. A retrospective chart review of 26 patients seen and followed at the National Institutes of Health who had received cognitive testing at the request of parent or staff was performed. Demographic information including medical, psychiatric, and developmental histories was gathered. Six patients (23%) were found to have an IQ of 70 or below, indicative of cognitive deficits, and all of those patients had defects in the membrane-linked cytochrome b558. The prevalence of cognitive deficits in this selected population of chronic granulomatous disease patients was high. The determination of the true distribution of cognitive functioning in the general chronic granulomatous disease population is important, since cognitive deficits have implications for educational planning and potential therapies such as transplantation and gene therapy in children. PMID:15123849

  1. Lymphocytic Bronchiolitis as Presenting Disorder in an Undiagnosed Adult Patient with Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Payam Tabarsi

    2007-12-01

    Full Text Available Chronic Granulomatous Disease (CGD is a rare primary immunodeficiency disease. Although the most affected patients are diagnosed in childhood, there are several reports of the disease presenting in adult patients. Here we present a 40 years old man who was admitted in hospital due to respiratory symptoms and ground glass pattern in high resolution computed tomography of lung. Open lung biopsy revealed lymphocytic bronchiolitis. Because of past medical history of granulomatous lesion in lung and recurrent abscesses of skin and soft tissue, NBT test was conducted which its result revealed that the disorder was compatible with CGD and then it was confirmed by fluorescent cytometry.

  2. Streptococcal Infections in Patients with Chronic Granulomatous Disease: Case Report and Review of the Literature

    OpenAIRE

    Falcone, E. Liana; Hanses, Stephan; Stock, Frida; Holland, Steven M.; Zelazny, Adrian M.; Uzel, Gulbu

    2012-01-01

    Streptococcus intermedius caused a liver abscess in a patient with chronic granulomatous disease (CGD). In contrast to typical staphylococcal abscesses in CGD, this abscess was liquid, easily drained, and resolved without surgery or steroids. This case and literature review provide insight into this organism’s pathogenesis, including in CGD.

  3. PPARγ activation normalizes resolution of acute sterile inflammation in murine chronic granulomatous disease

    OpenAIRE

    Fernandez-Boyanapalli, Ruby; Frasch, S. Courtney; Riches, David W.H.; Vandivier, R. William; Henson, Peter M.; Bratton, Donna L.

    2010-01-01

    Absence of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase predisposes chronic granulomatous disease (CGD) patients to infection, and also to unexplained, exaggerated inflammation. The impaired recognition and removal (efferocytosis) of apoptotic neutrophils by CGD macrophages may contribute to this effect. We hypothesized that peroxisome proliferator-activated receptor γ (PPARγ) activation during CGD inflammation is deficient, leading to altered macrophage programmin...

  4. B-Cell Activating Factor (BAFF) is elevated in Chronic Granulomatous Disease

    OpenAIRE

    Matharu, Kabir; Zarember, Kol A.; Marciano, Beatriz E.; Kuhns, Douglas B; Spalding, Christine; Garofalo, Mary; DiMaggio, Thomas; Estwick, Tyra; Huang, Chiung-yu; Fink, Danielle; Priel, Debra L.; Fleisher, Thomas A.; Holland, Steven M.; Malech, Harry L.; Gallin, John I.

    2013-01-01

    Chronic Granulomatous Disease (CGD) is an inherited defect in superoxide production leading to life-threatening infections, granulomas, and, possibly, abnormal immunoglobulin concentrations. We investigated whether factors controlling antibody production, such as B-cell activating factor (BAFF), were altered in CGD. CGD subjects had significantly increased mean (2.3-fold, p

  5. Alternaria infectoria brain abscess in a child with chronic granulomatous disease

    NARCIS (Netherlands)

    Hipolito, E.; Faria, E.; Alves, A.; de Hoog, G.S.; Anjos, J.; Goncalves, T.; Morais, P.V.; Estevao, H.

    2009-01-01

    In the present report, we describe the first case of a phaeohyphomycotic brain abscess in a 5-year-old boy with chronic granulomatous disease (CGD) admitted to hospital with seizures. A computed tomography (CT) scan revealed a cerebral abscess and the microbiology study showed a dark, melanin-pigmen

  6. Scedosporium apiospermum in chronic granulomatous disease treated with an HLA matched bone marrow transplant

    OpenAIRE

    Gompels, M M; Bethune, C A; Jackson, G; Spickett, G P

    2002-01-01

    A patient with chronic granulomatous disease who was being treated with steroids was diagnosed with a soft tissue Scedosporium apiospermum infection. Despite extensive treatment with antifungals progression to involve solid tissue (bone) occurred. Treatment required an HLA matched bone marrow transplant, which led to complete clearance of the fungal infection, although the patient subsequently died.

  7. Inheritance Pattern and Clinical Aspects of 93 Iranian Patients with Chronic Granulomatous Disease

    NARCIS (Netherlands)

    Fattahi, Fatemeh; Badalzadeh, Mohsen; Sedighipour, Leyla; Movahedi, Masoud; Fazlollahi, Mohammad Reza; Mansouri, Seyed Davood; Khotaei, Ghamar Taj; Bemanian, Mohammad Hassan; Behmanesh, Fatemeh; Hamidieh, Amir Ali; Bazargan, Nasrin; Mamishi, Setareh; Zandieh, Fariborz; Chavoshzadeh, Zahra; Mohammadzadeh, Iraj; Mahdaviani, Seyed Alireza; Tabatabaei, Seyed Ahmad; Kalantari, Najmeddin; Tajik, Shaghayegh; Maddah, Marzieh; Pourpak, Zahra; Moin, Mostafa

    2011-01-01

    Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (autosomal recessive (AR) or X-linked (XL)) and AR-CGD subtypes in Iran. Clinical and functional investigations were conducted in 93 Iranian

  8. Diabetes, Renal and Cardiovascular Disease in p47phox−/− Chronic Granulomatous Disease

    OpenAIRE

    Leiding, Jennifer W; Marciano, Beatriz E.; Zerbe, Christa S.; DeRavin, Suk See; Malech, Harry L.; Holland, Steven M.

    2013-01-01

    Chronic granulomatous disease is a rare immunodeficiency due to defects in the phagocyte NADPH oxidase. The X-linked form (gp91phox deficiency) accounts for about 70 % of cases; autosomal recessive p47phox deficiency accounts for about 25 % of cases. We identified a 10 % incidence of diabetes in p47phox deficient CGD, but none in X-linked CGD. Renal and cardiovascular diseases were also higher in p47phox deficiency. p47phox deficient CGD has noninfectious morbidities distinct from those in X-...

  9. Adaptive immune defects against glycoantigens in chronic granulomatous disease via dysregulated nitric oxide production

    OpenAIRE

    Lewis, Colleen J.; Cobb, Brian A

    2011-01-01

    Chronic granulomatous disease (CGD) is a primary immunodeficiency defined by mutations in the NADPH oxidase complex leading to reduced superoxide production, increased susceptibility to infection, chronic inflammation, and recurring abscess and granuloma formation. Here, we found that CGD mice were hyperresponsive to abscess-inducing T-cell-dependent carbohydrate antigens (glycoantigens) due to a ten-fold increase in NO production within APCs, which is known to be necessary for glycoantigen p...

  10. "Clinical and Radiological Aspects of Chronic Granulomatous Disease in Children: A case Series from Iran "

    OpenAIRE

    2006-01-01

    Chronic granulomatous disease (CGD) is a rare disorder of phagocytes, predisposes patients to bacterial and fungal infections. The main purpose of this study was to determine the clinical, radiological, pathologicial features, outcome and response to treatment of children with CGD. Thirteen patients with CGD, who had been referred to National Research Institute of Tuberculosis and Lung Disease (NRITLD), were reviewed during a 6 year period (1999-2005). There were 10 (76%) male and 3(24%) fema...

  11. [Hematopoietic progenitors transplantation in a patient with chronic granulomatous disease in Mexico].

    Science.gov (United States)

    Ramírez-Uribe, Nideshda; Hernández-Martínez, Claudia; López-Hernández, Gerardo; Pérez-García, Martín; Ramírez-Sánchez, Emmanuel; Espinosa-Padilla, Sara Elva; Yamazaki-Nakashimada, Marco; Olaya-Vargas, Alberto; Blancas-Galicia, Lizbeth

    2016-01-01

    The incidence of chronic granulomatous disease in international reports is 1:250,000; however, in Mexico it is unknown. At the National Institute of Pediatrics of Mexico a project for facilitating the diagnosis of the disease was implemented by us in 2009. From the start of such project up to date 68 cases have been studied; 80% of those are X-linked forms (LX) and moreover, it has become noticeable the diagnosis at a younger age. The new challenge we are facing its to provide a successful treatment to those patients diagnosed with chronic granulomatous disease (CGD). We are reporting the case of a one-month old newborn patient diagnosed with CGD-LX that was successfully transplanted in Mexico. PMID:26943834

  12. Arthritis and Osteomyelitis due to Aspergillus fumigatus: A 17 years old boy with chronic granulomatous disease

    Directory of Open Access Journals (Sweden)

    Tabak Yalcın

    2003-01-01

    Full Text Available Abstract Background Invasive Aspergillus infections are frequently seen in immunocompromised patients but arthritis is a rare complication of Aspergillus infections in the absence of immune suppressive therapy, trauma or surgical intervention. Case presentation A 17 years old male patient with arthritis and patellar osteomyelitis of the left knee whose further investigations revealed chronic granulomatous disease as the underlying disease is followed. Aspergillus fumigatus was isolated from the synovial fluid and the tissue samples cultures. He was treated with Amphotericin B deoxicolate 0.7 mg/kg/day. Also surgical debridement was performed our patient. Amphotericin B nephrotoxicity developed and the therapy switched to itraconazole 400 mg/day. Itraconazole therapy were discontinued at the 6th month. He can perform all the activities of daily living including. Conclusion We think that, chronic granulomatous disease should be investigated in patients who have aspergillar arthritis and osteomyelitis.

  13. Rapid whole-blood flow cytometry assay for diagnosis of chronic granulomatous disease.

    OpenAIRE

    O'Gorman, M R; Corrochano, V

    1995-01-01

    Chronic granulomatous disease (CGD) is characterized by defective killing of intracellular microorganisms due to mutations in one of the four known components of the NADPH oxidase system. This system is responsible for the generation of superoxide and related antimicrobial oxidants. Diagnosis of CGD requires the demonstration of an abnormal oxidase system in the leukocytes of affected patients. Recently, several flow cytometry-based procedures which measure various reactive oxygen intermediat...

  14. The p47phox mouse knock-out model of chronic granulomatous disease

    OpenAIRE

    1995-01-01

    Chronic granulomatous disease (CGD) is caused by a congenital defect in phagocyte reduced nicotinamide dinucleotide phosphate (NADPH) oxidase production of superoxide and related species. It is characterized by recurrent life-threatening bacterial and fungal infections and tissue granuloma formation. We have created a mouse model of CGD by targeted disruption of p47phox, one of the genes in which mutations cause human CGD. Identical to the case in human CGD, leukocytes from p47phox-/- mice pr...

  15. Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease

    OpenAIRE

    Meissner, F; Seger, R.A.; Moshous, D.; Fischer, A; Reichenbach, J.; Zychlinsky, A

    2010-01-01

    Chronic granulomatous disease (CGD) is an inherited disorder characterized by recurrent infections and deregulated inflammatory responses. CGD is caused by mutations in subunits of the NADPH oxidase, an enzyme that generates reactive oxygen species in phagocytes. To elucidate the contribution of the proinflammatory protease caspase-1 to aberrant inflammatory reactions in CGD, we analyzed cells isolated from patients with defects in the phagocyte oxidase subunits p22phox, p47phox or gp91phox. ...

  16. A neonatal case of chronic granulomatous disease, initially presented with invasive pulmonary aspergillosis.

    Science.gov (United States)

    Saito, Sachiko; Oda, Arata; Kasai, Masashi; Minami, Kisei; Nagumo, Haruo; Shiohara, Masaaki; Ogiso, Yoshifumi; Kawakami, Yoshiyuki

    2014-03-01

    Chronic granulomatous disease (CGD) often presents with infectious illness, such as repeating bacterial and fungal infections, due to the inability to generate superoxide, which would destroy certain infectious pathogens, and is usually diagnosed in childhood. We describe a CGD case diagnosed in neonatal period, who initially presented with invasive aspergillosis. Neonatal invasive pulmonary aspergillosis is very rare and, to the best of our knowledge, this might be the youngest case in Japan. PMID:24674387

  17. Chronic granulomatous disease. Expression of the metabolic defect by in vitro culture of bone marrow progenitors.

    OpenAIRE

    Newburger, P E; Kruskall, M S; Rappeport, J M; Robinson, S H; Chovaniec, M E; Cohen, H J

    1980-01-01

    Chronic granulomatous disease (CGD), an often fatal syndrome of recurrent infections results from the inability of patients' peripheral blood phagocytic leukocytes to generate superoxide despite otherwise normal phagocytic functions such as ingestion and degranulation. Circulating granulocytes and monocytes are the progeny of bone marrow progenitor cells, colony-forming units in culture. We compared the function of cells grown in two different in vitro cuture systems from the bone marrow of a...

  18. DNA linkage analysis of X chromosome-linked chronic granulomatous disease.

    OpenAIRE

    Baehner, R. L.; Kunkel, L M; Monaco, A P; Haines, J. L.; Conneally, P M; Palmer, C.; Heerema, N; Orkin, S H

    1986-01-01

    Chronic granulomatous disease (CGD) is a disorder of phagocytes that is usually inherited as an X chromosome-linked trait. Previous family studies suggested that the CGD locus resides on the distal short arm (Xp22-Xpter). Using cloned, polymorphic DNA probes we have performed a linkage analysis within CGD families that suggests a more proximal location (Xp21). In addition, the CGD locus is proximal to the Duchenne muscular dystrophy locus and lies within a broad region of Xp in which recombin...

  19. CT and MRI of Hepatic Abscess in Patients with Chronic Granulomatous Disease

    OpenAIRE

    Garcia-de-Eulate, R. (Reyes); Hussain, N.; Heller, T.; Kleiner, D.; Malech, H; Holland, S.; Choyke, P L

    2006-01-01

    We describe the spectrum of radiologic appearances of hepatic abscesses in patients with chronic granulomatous disease (CGD), a hereditary immunodeficiency presenting in childhood that occurs at a rate of 1 in 200,000-250,000 live births and predisposes patients to infection with catalase-positive organisms. CONCLUSION: Hepatic abscesses in patients with CGD show an atypical radiologic appearance compared with sporadic hepatic abscesses, ...

  20. Lessons About the Pathogenesis and Management of Aspergillosis from Studies in Chronic Granulomatous Disease

    OpenAIRE

    Gallin, John I.; Zarember, Kol

    2007-01-01

    Chronic Granulomatous Disease (CGD) is a rare disorder caused by mutations in the NADPH oxidase. The CGD phenotype includes granuloma formation and susceptibility to infection with microorganisms including Aspergillus. The immune adjuvant interferon-γ and the antifungal agent itraconazole have reduced the incidence of infections in CGD. Studies using CGD phagocytes have shown that reactive oxygen species (ROS), products of the NAPDH oxidase, are critical for killing Aspergillus hyphae. But de...

  1. Intact indoleamine 2,3-dioxygenase activity in human chronic granulomatous disease

    OpenAIRE

    Jürgens, Birgit; Fuchs, Dietmar; Reichenbach, Janine; Heitger, Andreas

    2010-01-01

    Chronic granulomatous disease (CGD) is characterized by a disability to produce reactive oxygen intermediates (ROI) caused by a defect of phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. A hyperinflammatory response to immune activation has been reported to contribute to the pathology of CGD. The tryptophan catabolizing enzyme indoleamine 2,3-dioxygenase (IDO) is considered critical for regulating immune responses and suppression of inflammation. IDO is generally believe...

  2. Successful Treatment of Fungal Osteomyelitis with Voriconazole in a Patient with Chronic Granulomatous Disease

    OpenAIRE

    Mohammadpour, Masoud; MAMISHI, Setareh; Oaji, Mahsa; POURPAK, Zahra; Parvaneh, Nima

    2010-01-01

    Background Chronic granulomatous disease (CGD) is an immunodeficiency affecting phagocytic leukocytes. Defective respiratory burst mechanism renders the affected patients to be susceptible to catalase positive microorganisms. With the great successes in antibacterial prophylaxis and therapy, fungal infections are a persistent problem. Invasive aspergillosis is the most important cause of mortality in CGD. Case Presentation We describe a nine year-old boy with CGD who presented with aspergillu...

  3. Intractable colitis associated with chronic granulomatous disease in a young girl.

    Science.gov (United States)

    Yaman, Aytaç; Kuloğlu, Zarife; Doğu, Figen; İkincioğulları, Aydan; Ensari, Arzu; Çiftçi, Ergin; Kansu, Aydan

    2015-01-01

    Chronic granulomatous disease (CGD) is an autosomal recessive or X-linked disorder caused by NADPH oxidase deficiency leading to an impaired ability of reactive superoxide anion and metabolite formation and recurring severe bacterial and fungal infections, with a high mortality rate. Diarrhea, colitis, ileus, perirectal abscess formation and anal fissures are reported gastrointestinal findings in these patients. We report a case of intractable colitis associated with CGD in a young girl. PMID:26690604

  4. Membrane Potential Changes in Polymorphonuclear Leukocytes of Patients with Chronic Granulomatous Disease

    OpenAIRE

    Matsuura, Ryoji; Kobayashi, Masao; Usui, Tomofusa

    1984-01-01

    The activation of NADPH oxidase on the plasma membranes of polymorphonuclear leukocytes (PMNL) follows the change of membrane potential. It is thought that the activation of NADPH oxidase is disturbed in the PMNL of patients with chronic granulomatous disease (CGD). The change of membrane potential was examined in the PMNL of normal subjects and patients with CGD, with a lipophilic probe, di-O-C5(3). There was a disturbance in phorbol myristate acetate (PMA) and formyl-methionyl-leucyl-phenyl...

  5. Gastrointestinal Manifestations of Patients with Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Masoud Movahedi

    2004-06-01

    The median age at the time of study was 14.5 years old (1-56 years. The median onset age of symptoms was 5 months (1 month – 13.75 years, and that of diagnostic age was 5 years (2 months- 54.1 years, with a diagnostic delay of 33 months, on average. Seven patients were presented with acute diarrhea, 3 with oral candidiasis, and 2 with liver abscesses as the first chief complaints. Twenty-four cases (42.1% had been complicated by gastrointestinal manifestations during their course of the disease. Of those, 12 cases (21.1% had diarrhea, 7 (12.3% oral candidiasis, 5 (8.8% hepatitis, 4 (7.0% hepatic abscess, and 2 cases (3.5% gastric outlet obstruction. Also, failure to thrive was detected in 6 patients (10.5%. Four patients died (7%. CGD should be excluded in any patient with gastrointestinal manifestations especially chronic diarrhea, hepatic abscess, and gastric outlet obstruction.

  6. Detection of non-ΔGT NCF-1 mutations in chronic granulomatous disease

    DEFF Research Database (Denmark)

    Jakobsen, Marianne Antonius; Pedersen, Svend Stenvang; Barington, Torben

    2009-01-01

    AIMS: Chronic granulomatous disease (CGD) is a rare inherited disorder caused by mutations in the subunits of the NADPH oxidase complex, leaving phagocytes unable to produce superoxide and thereby unable to kill invading microorganisms. A subgroup of CGD patients (approximately 20%) is reported to...... dinucleotide repeat was set up and used to identify a novel mutation in exon 7 of NCF-1 in a patient with autosomal recessive CGD, explaining the disease by changing a UGG codon to a premature UGA STOP codon. CONCLUSION: The method is generally applicable for the detection of NCF-1 mutations in patients with...... suspected CGD....

  7. An unusual cause of granulomatous disease

    OpenAIRE

    Higgins Bernard; Gilmour Kimberley; Aldridge Catherine; Mclean-Tooke Andrew PC; Hudson Mark; Spickett Gavin P

    2007-01-01

    Abstract Background Chronic granulomatous disease (CGD) is an inherited disorder of phagocytic cells caused by an inability to generate active microbicidal oxygen species required kill certain types of fungi and bacteria. This leads to recurrent life-threatening bacterial and fungal infections with tissue granuloma formation. Case presentation We describe a case of X-linked Chronic granulomatous disease (CGD) diagnosed in an 18-year-old male. He initially presented with granulomatous disease ...

  8. Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease

    OpenAIRE

    Gutierrez, Maria J.; McSherry, George D.; Ishmael, Faoud T.; Horwitz, Alexandra A.; Gustavo Nino

    2012-01-01

    Chronic granulomatous disease (CGD) is characterized by inherited immune defects resulting from mutations in the NADPH oxidase complex genes. The X-linked type of CGD is caused by defects in the CYBB gene that encodes gp91-phox, a fundamental component of the NADPH oxidase complex. This mutation originates the most common and severe form of CGD, which typically has absence of NADPH oxidase function and aggressive multisystemic infections. We present the case of a 9-year-old child with a rare ...

  9. Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

    OpenAIRE

    Arai, Takashi; Oh-ishi, Tsutomu; Yamamoto, Hideaki; Nunoi, Hiroyuki; Kamizono, Junji; Uehara, Masahiko; Kubota, Takeo; Sakurai, Takuya; Kizaki, Takako; Ohno, Hideki

    2012-01-01

    Mutations in genes for any of the six subunits of NADPH oxidase cause chronic granulomatous disease (CGD), but almost 2/3 of CGD cases are caused by mutations in the X-linked CYBB gene, also known as NAD (P) H oxidase 2. Approximately 260 patients with CGD have been reported in Japan, of whom 92 were shown to have mutations of the CYBB gene and 16 to have chromosomal deletions. However, there has been very little detailed analysis of the range of the deletion or close understanding of the dis...

  10. Malaysia’s First Transplanted Case of Chronic Granulomatous Disease: The Journey of Overcoming Obstacles

    Directory of Open Access Journals (Sweden)

    Intan Hakimah Ismail

    2016-05-01

    Full Text Available The awareness of primary immunodeficiency (PID in Malaysia is still not forthcoming. Certain practical issues such as lack of clinical immunologists and specialized laboratory diagnostic facilities remain to be addressed. However, great efforts taken by passionate clinicians and scientists in the immunology networking have ascertained some prevalence. Despite the limitation, all suspected cases of PID are being properly investigated and competently managed. In this case report we highlighted the obstacles we faced in managing PID patients, particularly preparing for bone marrow transplant. This is the first transplanted case of chronic granulomatous disease in Malaysia, which emphasizes the importance of collaborative work to ensure further morbidities or mortalities are prevented.

  11. Malaysia's First Transplanted Case of Chronic Granulomatous Disease: The Journey of Overcoming Obstacles.

    Science.gov (United States)

    Ismail, Intan Hakimah; Jamli, Faizah Mohamed; Othman, Ida Shahnaz; Noh, Lokman Mohd; Abdul Latiff, Amir Hamzah

    2016-01-01

    The awareness of primary immunodeficiency (PID) in Malaysia is still not forthcoming. Certain practical issues such as lack of clinical immunologists and specialized laboratory diagnostic facilities remain to be addressed. However, great efforts taken by passionate clinicians and scientists in the immunology networking have ascertained some prevalence. Despite the limitation, all suspected cases of PID are being properly investigated and competently managed. In this case report we highlighted the obstacles we faced in managing PID patients, particularly preparing for bone marrow transplant. This is the first transplanted case of chronic granulomatous disease in Malaysia, which emphasizes the importance of collaborative work to ensure further morbidities or mortalities are prevented. PMID:27417247

  12. Francisella philomiragia Adenitis and Pulmonary Nodules in a Child with Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Timothy Mailman

    2005-01-01

    Full Text Available Francisella philomiragia is a rare and opportunistic pathogen capable of producing invasive infection in patients with compromised neutrophil function and in patients that have survived a near-drowning. A case of F philomiragia adenitis and lung nodules, refractory to cephalosporin therapy, is reported in a 10-year-old boy with chronic granulomatous disease following a facial abrasion from a saltwater crab. To the authors' knowledge, this is the first Canadian clinical isolate to be reported. Genus and species identification was confirmed via 16S ribosomal RNA sequence analysis. A literature review revealed three groups at risk of F philomiragia infection: young patients with chronic granulomatous disease; adults with hematogenous malignancy; and near-drowning patients. Pneumonia, fever without an apparent source and sepsis are the main clinical presentations. Invasive procedures may be required to isolate this organism and ensure appropriate antimicrobial therapy. Limited awareness of F philomiragia has led to delayed identification, patient death and misidentification as Francisella tularensis - a biosafety level three pathogen and potential bioterrorism agent.

  13. Gastrointestinal Disorders Associated with Common Variable Immune Deficiency (CVID) and Chronic Granulomatous Disease (CGD).

    Science.gov (United States)

    Uzzan, Mathieu; Ko, Huaibin M; Mehandru, Saurabh; Cunningham-Rundles, Charlotte

    2016-04-01

    Common variable immune deficiency (CVID) and chronic granulomatous disease (CGD) are two of the well-characterized primary immune deficiencies with distinct pathologic defects. While CVID is predominantly a disorder of the adaptive immune system, in CGD, innate immunity is impaired. In both syndromes, the clinical manifestations include an increased susceptibility to infections and a number of non-infectious, inflammatory conditions including systemic autoimmunity, as well as organ-specific pathology. Among the organ-associated disorders, gastrointestinal (GI) manifestations are one of the most intractable. As such, non-infectious inflammatory disorders of the GI tract are clinically challenging as they have protean manifestations, often resembling inflammatory bowel disease (IBD) or celiac disease, are notoriously difficult to treat, and hence are associated with significant morbidity and mortality. Therefore, assessing the pathogenesis and defining appropriate therapeutic approaches for GI disease in patients with CVID and CGD is imperative. PMID:26951230

  14. Libyan Boy with Autosomal Recessive Trait (P22-phox Defect of Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Ilka Schulze

    2006-09-01

    Full Text Available Chronic granulomatous disease (CGD is a primary immune deficiency disorder of the phagocytes. In this disorder, phagocytic cells (polymorphonuclear leukocytes and monocytes cannot produce active oxygen metabolites, and therefore, cannot destroy the ingested intracellular bacteria. Clinically, patients with CGD usually have recurrent bacterial and fungal infections causing abscess and granuloma formation in the skin, lymph nodes and visceral organs.In this report, we present a boy from Libya with a rare autosomal recessive trait of CGD (defect of p22-phox who has chronic lung disease following multiple severe pneumonia attacks. The case we present suffered from bloody diarrhea since the third month of his life. He also had recurrent episodes of fever, and later, developed persistent cervical lymphadenitis and failure to gain weight. CGD is a very rare condition worldwide. It is also not recognized here in Libya, and usually not in the list of differential diagnosis for chronic pulmonary infections. We advise that pediatricians and general practitioners who treat chronic cases of lung diseases (with or without chronic diarrhea should consider primary immunodeficiency disorders in the hope that early diagnosis and treatment may prevent chronic complications especially of the respiratory tract. Furthermore, we state that, to the best of our knowledge, this is the first documented case of CGD from Libya.

  15. Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report

    OpenAIRE

    Kepenekli, Eda; Soysal, Ahmet; Kuzdan, Canan; Ermerak, Nezih Onur; Yüksel, Mustafa; Bakır, Mustafa

    2014-01-01

    Invasive aspergillosis is an important cause of morbidity and mortality in immunocompromised patients. Among primary immunodefiencies, chronic granulomatous disease (CGD) has the highest prevalence of invasive fungal diseases. Voriconazole is recommended for the primary treatment of invasive aspergillosis in most patients. In patients whose aspergillosis is refractory to voriconazole, therapeutic options include changing class of antifungal, for example using an amphotericin B formulation, an...

  16. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat

    International Nuclear Information System (INIS)

    Chronic granulomatous disease (CGD) is a rare inherited condition rendering neutrophils incapable of killing invading pathogens. This condition is due to the failure of a multicomponent microbicidal oxidase that normally yields a low-midpoint-potential b cytochrome (cytochrome b245). Although defects in the X chromosome-linked cytochrome account for the majority of CGD patients, as many as 30% of CGD cases are due to an autosomal recessive disease. Of these, >90% have been shown to be defective in the synthesis of a 47-kDa cytosolic component of the oxidase. The authors demonstrate here in three unrelated cases of autosomal recessive CGD that the identical underlying molecular lesion is a dinucleotide deletion at a GTGT tandem repeat, corresponding to the acceptor site of the first intron - exon junction. Slippage of the DNA duplex at this site may contribute to the high frequency of defects in this gene

  17. Concomitant use of corticosteroid and antimicrobials for liver abscesses in patients with chronic granulomatous disease.

    Science.gov (United States)

    Shin, Kyung-Sue; Lee, Mu Suk

    2016-04-01

    Chronic granulomatous disease (CGD) is a rare inherited disorder caused by defective nicotinamide adenine dinucleotide phosphate oxidase enzyme and characterized by recurrent bacterial and fungal infections. Although liver abscess is a common manifestation of CGD, its management in CGD patients is not well-defined. In addition, the generalized guidelines for treating liver abscesses do not necessarily apply to CGD patients. Corticosteroids are commonly used to control granulomatous complications, such as inflammatory gastrointestinal and genitourinary lesions, in patients with CGD, Corticosteroids have also been used in combination with antimicrobials to treat refractory infections in patients with CGD. Because corticosteroids are capable of suppressing symptomatic inflammation, all potential infections must be adequately controlled prior to corticosteroid initiation. We report 3 typical CGD cases with liver abscesses refractory to conventional treatments that were successfully treated with the concomitant use of corticosteroid and antimicrobials. It remains unclear whether corticosteroid therapy is required for liver abscesses in CGD refractory to conventional treatments. However, based on our observations, use of corticosteroids in combination with optimal antimicrobials should be considered for refractory liver abscesses in CGD. PMID:27186231

  18. Mechanisms of antibody-dependent cellular cytotoxicity: the use of effector cells from chronic granulomatous disease patients as investigative probes.

    OpenAIRE

    Katz, P.; Simone, C B; Henkart, P A; Fauci, A S

    1980-01-01

    The present study characterized the antibody-dependent cellular cytoxicity (ADCC) of leukocyte effector cells (neutrophils, lymphocytes, and monocytes) from normal subjects and from chronic granulomatous disease (CGD) patients. CGD phagocytic cells (neutrophils and monocytes) had depressed ADCC activity against antibody-coated human erythrocyte (HRBC) targets in suspension cultures indicative of abnormal intracellular postphagocytic killing. However, when phagocytosis was prevented by using a...

  19. Chronic granulomatous disease of childhood: an unusual cause of recurrent uncommon infections in a 61-year-old man

    NARCIS (Netherlands)

    G. Isman-Nelkenbaum; B. Wolach; R. Gavrieli; D. Roos; E. Sprecher; E. Bash; A. Gat; H. Sprecher; R. Ben-Ami; T. Zeeli

    2011-01-01

    Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency that affects 1 : 250 000 of the population, which is characterized by recurrent bacterial and fungal infections and by granuloma formation. We investigated a 61-year-old man presented with a 20-year history of a relapsing skin

  20. Effect of Corticosteroid Therapy in Esophageal Stricture of a Child with Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Alborzi Abdolvahab

    2008-12-01

    Full Text Available In chronic granulomatous disease (CGD patients, esophageal stricture is a rare complication and the treatment of choice is still controversial. There are few reports of successful therapy with antibiotics, corticosteroids, multiple balloon dilatations or their combination.We report a 3-three-year-old Iranian boy with recurrent esophageal obstruction due to CGD. The patient transiently responded to dilatation in one occasion and at another time to short term steroid therapy. We observed an excellent response when long term and high dose of corticosteroid was administered. It showed that a long term and high dose steroid therapy is more effective than a short term in a patient with CGD and esophageal stricture.

  1. Curative haploidentical BMT in a murine model of X-linked chronic granulomatous disease.

    Science.gov (United States)

    Takeuchi, Yasuo; Takeuchi, Emiko; Ishida, Takashi; Onodera, Masafumi; Nakauchi, Hiromitsu; Otsu, Makoto

    2015-07-01

    Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder characterized by defective microbial killing in phagocytes. Long-term prognosis for CGD patients is generally poor, highlighting the need to develop minimally toxic, curative therapeutic approaches. We here describe the establishment of a mouse model in which X-linked CGD can be cured by allogeneic bone marrow transplantation. Using a combination of non-myeloablative-dose total body irradiation and a single injection of anti-CD40 ligand monoclonal antibody, transplantation of whole bone marrow cells achieved long-lasting mixed chimerism in X-linked CGD mice in a haploidentical transplantation setting. Stable mixed chimerism was maintained for up to 1 year even at a low range (CGD models. These results warrant future development of a simplified allogeneic hematopoietic cell transplantation regimen that would benefit CGD patients by allowing the use of haploidentical donor grafts without serious concerns of severe treatment-related toxicity. PMID:25921405

  2. Subcutaneous abscess due to the basidiomycete Phellinus mori in a patient with chronic granulomatous disease.

    Science.gov (United States)

    Shigemura, T; Nakazawa, Y; Amano, Y; Sudo, A; Watanabe, M; Kobayashi, M; Kobayashi, N; Koike, K; Agematsu, K; Nishimura, K

    2015-06-01

    Chronic granulomatous disease (CGD), a primary immunodeficiency caused by impaired phagocyte killing of intracellular pathogens, is characterized by recurrent, life-threatening, bacterial and fungal infections. As a result of improvements in microbiologic culture and identification techniques, a number of unique filamentous fungi have been reported as significant pathogens in patients with CGD. We report a case of subcutaneous basidiomycete Phellinus mori infection in a patient with CGD. To the best of our knowledge, this is the first reported case of human infection by this fungus. The causative fungus was identified on the basis of its morphological characteristics and nucleotide sequence on the internal transcribed spacer region of the ribosomal RNA gene. This is the fifth case report of filamentous basidiomycetes infecting a patient with CGD; all of these cases have been caused by Phellinus species. We highlight the importance of recognizing filamentous basidiomycetes Phellinus species as possible agents of non-Aspergillus fungal infections in patients with CGD. PMID:25600930

  3. Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review

    Directory of Open Access Journals (Sweden)

    Watkins Casey E

    2011-11-01

    Full Text Available Abstract Chronic Granulomatous Disease (CGD, a disorder of the NADPH oxidase system, results in phagocyte functional defects and subsequent infections with bacterial and fungal pathogens (such as Aspergillus species and Candida albicans. Deletions and missense, frameshift, or nonsense mutations in the gp91phox gene (also termed CYBB, located in the Xp21.1 region of the X chromosome, are associated with the most common form of CGD. When larger X-chromosomal deletions occur, including the XK gene deletion, a so-called "Contiguous Gene Deletion Syndrome" may result. The contiguous gene deletion syndrome is known to associate the Kell phenotype/McLeod syndrome with diseases such as X-linked chronic granulomatous disease, Duchenne muscular dystrophy, and X-linked retinitis pigmentosa. These patients are often complicated and management requires special attention to the various facets of the syndrome.

  4. "Clinical and Radiological Aspects of Chronic Granulomatous Disease in Children: A case Series from Iran "

    Directory of Open Access Journals (Sweden)

    "Soheila Khalilzadeh

    2006-06-01

    Full Text Available Chronic granulomatous disease (CGD is a rare disorder of phagocytes, predisposes patients to bacterial and fungal infections. The main purpose of this study was to determine the clinical, radiological, pathologicial features, outcome and response to treatment of children with CGD. Thirteen patients with CGD, who had been referred to National Research Institute of Tuberculosis and Lung Disease (NRITLD, were reviewed during a 6 year period (1999-2005. There were 10 (76% male and 3(24% female cases. The median age of the patients was 9 years (1 month-12 years.Family history of CGD was reported by 7 patients. The median diagnostic age was 8 years, with a diagnostic delay of 4.5 years. The most common manifestations of CGD were pulmonary infections and skin involvement, followed by generalized lymphadenopathy. The most common radiological findings were multiple lymphadenopathy in mediastinal region and fibrotic changes in lung fields. Two patients died of pulmonary infections. Based on the results of this research, immunologic evaluations especially evaluation for CGD is highly recommended in children suffering from recurrent pulmonary infections, cutaneous or hepatic abscesses, or infections caused by uncommon pathogens. Early diagnosis and prophylactic treatment both, prevent further development of the lesions, irreversible complications and decreasing mortality and morbidity rates in children suffering from CGD.

  5. Persistence of the bacterial pathogen Granulibacter bethesdensis in Chronic Granulomatous Disease monocytes and macrophages lacking a functional NADPH oxidase1

    OpenAIRE

    Chu, Jessica; Song, Helen H.; Zarember, Kol A.; Mills, Teresa A.; Gallin, John I.

    2013-01-01

    Granulibacter bethesdensis is a Gram-negative pathogen in patients with Chronic Granulomatous Disease (CGD), a deficiency in the phagocyte NADPH oxidase. Repeated isolation of genetically identical strains from the same patient over years, and prolonged waxing and waning seropositivity in some subjects, raises the possibility of long-term persistence. G. bethesdensis resists killing by serum, CGD polymorphonuclear leukocytes (PMN), and antimicrobial peptides, indicating resistance to non-oxid...

  6. An AAVS1-Targeted Minigene Platform for Correction of iPSCs From All Five Types of Chronic Granulomatous Disease

    OpenAIRE

    Merling, Randall K; Sweeney, Colin L; Chu, Jessica; Bodansky, Aaron; Choi, Uimook; Priel, Debra Long; Kuhns, Douglas B; WANG, HONGMEI; Vasilevsky, Sam; De Ravin, Suk See; Winkler, Thomas; Dunbar, Cynthia E; Zou, Jizhong; Zarember, Kol A.; Gallin, John I.

    2014-01-01

    There are five genetic forms of chronic granulomatous disease (CGD), resulting from mutations in any of five subunits of phagocyte oxidase, an enzyme complex in neutrophils, monocytes, and macrophages that produces microbicidal reactive oxygen species. We generated induced pluripotent stem cells (iPSCs) from peripheral blood CD34+ hematopoietic stem cells of patients with each of five CGD genotypes. We used zinc finger nuclease (ZFN) targeting the AAVS1 safe harbor site together with CGD geno...

  7. Reactive oxygen species–independent activation of the IL-1β inflammasome in cells from patients with chronic granulomatous disease

    OpenAIRE

    Van De Veerdonk, Frank L.; Smeekens, Sanne P.; Joosten, Leo A. B.; Kullberg, Bart Jan; Dinarello, Charles A.; van der Meer, Jos W.M.; Netea, Mihai G.

    2010-01-01

    Humans with chronic granulomatous diseases (CGDs) due to mutations in p47-phox have defective NADPH activity and thus cannot generate NADPH-dependent reactive oxygen species (ROS). The role of ROS in inflammation is controversial; some in vitro studies suggest that ROS are crucial for secretion of IL-1β via inflammasome activation, whereas mice defective for ROS and patients with CGD have a proinflammatory phenotype. In this study, we evaluated activation of the IL-1β inflammasome in cells fr...

  8. The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease

    OpenAIRE

    Agudelo-Flórez P.; López J.A.; Redher J.; Carneiro-Sampaio M.M.S.; Costa-Carvalho B.T.; Grumach A.S.; Condino-Neto A.

    2004-01-01

    Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by a defective oxidative burst of phagocytes and subsequent impairment of their microbicidal activity. Mutations in one of the NADPH-oxidase components affect gene expression or function of this system, leading to the phenotype of CGD. Defects in gp91-phox lead to X-linked CGD, responsible for approximately 70% of CGD cases. Investigation of the highly heterogeneous genotype of CGD patients ...

  9. Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease

    DEFF Research Database (Denmark)

    Jakobsen, M A; Katzenstein, Terese Lea; Valerius, Niels Henrik; Roos, D; Fisker, N; Mogensen, T H; Jensen, P Ø; Barington, T

    2012-01-01

    Chronic granulomatous disease (CGD) is a rare inherited disorder of the innate immune system caused by a defect in NADPH oxidase, leaving the granulocytes unable to kill invading microorganisms. CGD is caused by mutation in one of the five components gp91phox, p22phox, p47phox, p67phox and p40phox......, encoded by the X-linked CYBB gene and the autosomal CYBA, NCF1, NCF2 and NCF4 genes respectively. We have collected samples from all Danish patients with known CGD followed in the clinic or newly diagnosed during a 5-year period, a cohort of 27 patients, and characterized them genetically. The cohort...... includes 10 male patients with X-linked CGD and one female with extremely lyonized expression of a defective CYBB allele. Six patients had mutation in CYBA. Seven of 10 patients with a defect in NCF1 were homozygous for the common GT deletion, one was compound heterozygous for the GT deletion and a splice...

  10. Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.

    Science.gov (United States)

    Al-Zadjali, S; Al-Tamemi, S; Elnour, I; AlKindi, S; Lapoumeroulie, C; Al-Maamari, S; Pathare, A; Dennison, D; Krishnamoorthy, R

    2015-02-01

    Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results from mutations in any one of the five genes encoding the subunits of the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH) oxidase enzyme, and is characterized by recurrent life-threatening bacterial and fungal infections. Molecular analysis of 14 Omani CGD patients from 10 families, diagnosed to have CGD on clinical (recurrent infections) and biochemical grounds (positive for both the nitroblue tetrazolium (NBT) test and the dihydrorhodamine (DHR-1,2,3 assay), revealed that only one patient had X-linked CGD, with a large deletion involving both the gp91-phox gene (CYBB) and the McLeod gene (XK). The remaining 13 patients were all homozygotes from a previously described c.579G>A (p.Trp193X) mutation in the NCF1 gene on chromosome 7, responsible for autosomal recessive CGD (AR-CGD). Although X-linked CGD is the most common type of CGD disorder in most population groups, AR-CGD is the most prevalent type in Oman. PMID:24446915

  11. Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Maria J. Gutierrez

    2012-01-01

    Full Text Available Chronic granulomatous disease (CGD is characterized by inherited immune defects resulting from mutations in the NADPH oxidase complex genes. The X-linked type of CGD is caused by defects in the CYBB gene that encodes gp91-phox, a fundamental component of the NADPH oxidase complex. This mutation originates the most common and severe form of CGD, which typically has absence of NADPH oxidase function and aggressive multisystemic infections. We present the case of a 9-year-old child with a rare CYBB mutation that preserves some NADPH oxidase activity, resulting in an atypical mild form of X-linked CGD with isolated lung involvement. Although the clinical picture and partially preserved oxidase function suggested an autosomal recessive form of CGD, genetic testing demonstrated a mutation in the exon 3 of CYBB gene (c.252 G>A, p.Ala84Ala, an uncommon X-linked CGD variant that affects splicing. Atypical presentation and diagnostic difficulties are discussed. This case highlights that the diagnosis of mild forms of X-linked CGD caused by rare CYBB mutations and partially preserved NADPH function should be considered early in the evaluation of atypical and recurrent lung infections.

  12. Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience.

    Science.gov (United States)

    Morillo-Gutierrez, Beatriz; Beier, Rita; Rao, Kanchan; Burroughs, Lauri; Schulz, Ansgar; Ewins, Anna-Maria; Gibson, Brenda; Sedlacek, Petr; Krol, Ladislav; Strahm, Brigitte; Zaidman, Irina; Kalwak, Krzysztof; Talano, Julie-An; Woolfrey, Ann; Fraser, Chris; Meyts, Isabelle; Müller, Ingo; Wachowiak, Jacek; Bernardo, Maria Ester; Veys, Paul; Sykora, Karl-Walter; Gennery, Andrew R; Slatter, Mary

    2016-07-21

    Chronic granulomatous disease (CGD) can be cured by allogeneic hemopoietic stem cell transplantation (HSCT). Complications include graft failure, graft-versus-host disease (GVHD), infection, and transplant-related mortality; therefore, reduced-intensity conditioning regimens are being used to improve outcomes. In this retrospective study, the aim was to determine the outcome of treosulfan-based conditioning in HSCT for pediatric patients with CGD. The following data were collected: risk features pre-HSCT, additional conditioning agents, donor type and stem cell source, toxicity, engraftment, GVHD, chimerism, viral reactivation, post-HSCT complications, length of follow-up, and outcome. Seventy patients (median age, 107 months; interquartile range [IQR], 46-232 months) from 16 centers worldwide were transplanted between 2006 and 2015. Ninety-one percent had high-risk features. Fifty-seven HLA-matched donors, 12 HLA-mismatched donors, and 1 CD3(+)TCR αβ/CD19 depleted parental haploidentical transplants were performed. No major toxicity was reported. Median times to neutrophil and platelet engraftment were 17 (IQR, 15-35) and 16 (IQR, 13-50) days. At a median follow-up of 34 months (IQR, 13-102 months), the overall survival was 91.4%, and event-free survival was 81.4%. The cumulative incidence of acute grade III-IV GVHD was 12%. Nine patients developed chronic GVHD. When split cell chimerism was available, 95% or more myeloid donor chimerism was documented in 80% of surviving patients. Secondary graft failure occurred in 12% of patients. Treosulfan-containing conditioning regimens can be used safely in HSCT for children with CGD and high-risk clinical features, achieving excellent survival with high myeloid chimerism. Further studies are needed to compare with other regimens and evaluate the long-term outcome, particularly on fertility. PMID:27216217

  13. An unusual cause of granulomatous disease

    Directory of Open Access Journals (Sweden)

    Higgins Bernard

    2007-03-01

    Full Text Available Abstract Background Chronic granulomatous disease (CGD is an inherited disorder of phagocytic cells caused by an inability to generate active microbicidal oxygen species required kill certain types of fungi and bacteria. This leads to recurrent life-threatening bacterial and fungal infections with tissue granuloma formation. Case presentation We describe a case of X-linked Chronic granulomatous disease (CGD diagnosed in an 18-year-old male. He initially presented with granulomatous disease mimicking sarcoidosis and was treated with corticosteroids. He subsequently developed Burkholderia cepacia complex pneumonia and further investigation confirmed a diagnosis of CGD. Conclusion Milder phenotypes of CGD are now being recognised. CGD should be considered in patients of any age with granulomatous diseases, especially if there is a history of recurrent or atypical infection.

  14. A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous disease.

    Directory of Open Access Journals (Sweden)

    2006-04-01

    Full Text Available Chronic granulomatous disease (CGD is a rare inherited disease of the phagocyte NADPH oxidase system causing defective production of toxic oxygen metabolites, impaired bacterial and fungal killing, and recurrent life-threatening infections. We identified a novel gram-negative rod in excised lymph nodes from a patient with CGD. Gram-negative rods grew on charcoal-yeast extract, but conventional tests could not identify it. The best 50 matches of the 16S rRNA (using BLAST were all members of the family Acetobacteraceae, with the closest match being Gluconobacter sacchari. Patient serum showed specific band recognition in whole lysate immunoblot. We used mouse models of CGD to determine whether this organism was a genuine CGD pathogen. Intraperitoneal injection of gp91(phox (-/- (X-linked and p47 (phox -/- (autosomal recessive mice with this bacterium led to larger burdens of organism recovered from knockout compared with wild-type mice. Knockout mouse lymph nodes had histopathology that was similar to that seen in our patient. We recovered organisms with 16S rRNA sequence identical to the patient's original isolate from the infected mice. We identified a novel gram-negative rod from a patient with CGD. To confirm its pathogenicity, we demonstrated specific immune reaction by high titer antibody, showed that it was able to cause similar disease when introduced into CGD, but not wild-type mice, and we recovered the same organism from pathologic lesions in these mice. Therefore, we have fulfilled Koch's postulates for a new pathogen. This is the first reported case of invasive human disease caused by any of the Acetobacteraceae. Polyphasic taxonomic analysis shows this organism to be a new genus and species for which we propose the name Granulobacter bethesdensis.

  15. A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous disease.

    Directory of Open Access Journals (Sweden)

    David E Greenberg

    2006-04-01

    Full Text Available Chronic granulomatous disease (CGD is a rare inherited disease of the phagocyte NADPH oxidase system causing defective production of toxic oxygen metabolites, impaired bacterial and fungal killing, and recurrent life-threatening infections. We identified a novel gram-negative rod in excised lymph nodes from a patient with CGD. Gram-negative rods grew on charcoal-yeast extract, but conventional tests could not identify it. The best 50 matches of the 16S rRNA (using BLAST were all members of the family Acetobacteraceae, with the closest match being Gluconobacter sacchari. Patient serum showed specific band recognition in whole lysate immunoblot. We used mouse models of CGD to determine whether this organism was a genuine CGD pathogen. Intraperitoneal injection of gp91(phox -/- (X-linked and p47 (phox -/- (autosomal recessive mice with this bacterium led to larger burdens of organism recovered from knockout compared with wild-type mice. Knockout mouse lymph nodes had histopathology that was similar to that seen in our patient. We recovered organisms with 16S rRNA sequence identical to the patient's original isolate from the infected mice. We identified a novel gram-negative rod from a patient with CGD. To confirm its pathogenicity, we demonstrated specific immune reaction by high titer antibody, showed that it was able to cause similar disease when introduced into CGD, but not wild-type mice, and we recovered the same organism from pathologic lesions in these mice. Therefore, we have fulfilled Koch's postulates for a new pathogen. This is the first reported case of invasive human disease caused by any of the Acetobacteraceae. Polyphasic taxonomic analysis shows this organism to be a new genus and species for which we propose the name Granulobacter bethesdensis.

  16. Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report.

    Science.gov (United States)

    Kepenekli, Eda; Soysal, Ahmet; Kuzdan, Canan; Ermerak, Nezih Onur; Yüksel, Mustafa; Bakır, Mustafa

    2014-01-01

    Invasive aspergillosis is an important cause of morbidity and mortality in immunocompromised patients. Among primary immunodefiencies, chronic granulomatous disease (CGD) has the highest prevalence of invasive fungal diseases. Voriconazole is recommended for the primary treatment of invasive aspergillosis in most patients. In patients whose aspergillosis is refractory to voriconazole, therapeutic options include changing class of antifungal, for example using an amphotericin B formulation, an echinocandin, combination therapy, or further use of azoles. Posaconazole is a triazole derivative which is effective in Aspergillosis prophylaxis and treatment. Rarely, surgical therapy may be needed in some patients. Lesions those are contiguous with the great vessels or the pericardium, single cavitary lesion that cause hemoptysis, lesions invading the chest wall, aspergillosis that involves the skin and the bone are the indications for surgical therapy.Chronic granulomatous disease (CGD) is an inherited immundeficiency caused by defects in the phagocyte nicotinamide adenine dinucleotidephosphate (NADPH) oxidase complex which is mainstay of killing microorganisms. CGD is characterized by recurrent life-threatening bacterial and fungal infections and by abnormally exuberant inflammatory responses leading to granuloma formation, such as granulomatous enteritis, genitourinary obstruction, and wound dehiscence. The diagnosis is made by neutrophil function testing and the genotyping.Herein, we present a case with CGD who had invasive pulmonary aspergillosis refractory to voriconazole and liposomal amphotericine B combination therapy that was controlled with posaconazole treatment and pulmonary surgery. PMID:24401677

  17. Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.

    Directory of Open Access Journals (Sweden)

    Takashi Arai

    Full Text Available Mutations in genes for any of the six subunits of NADPH oxidase cause chronic granulomatous disease (CGD, but almost 2/3 of CGD cases are caused by mutations in the X-linked CYBB gene, also known as NAD (P H oxidase 2. Approximately 260 patients with CGD have been reported in Japan, of whom 92 were shown to have mutations of the CYBB gene and 16 to have chromosomal deletions. However, there has been very little detailed analysis of the range of the deletion or close understanding of the disease based on this. We therefore analyzed genomic rearrangements in X-linked CGD using array comparative genomic hybridization analysis, revealing the extent and the types of the deletion genes. The subjects were five Japanese X-linked CGD patients estimated to have large base deletions of 1 kb or more in the CYBB gene (four male patients, one female patient and the mothers of four of those patients. The five Japanese patients were found to range from a patient exhibiting deletions only of the CYBB gene to a female patient exhibiting an extensive DNA deletion and the DMD and CGD phenotype manifested. Of the other three patients, two exhibited CYBB, XK, and DYNLT3 gene deletions. The remaining patient exhibited both a deletion encompassing DNA subsequent to the CYBB region following intron 2 and the DYNLT3 gene and a complex copy number variation involving the insertion of an inverted duplication of a region from the centromere side of DYNLT3 into the deleted region.

  18. Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.

    Science.gov (United States)

    Ko, Sun Hi; Rhim, Jung Woo; Shin, Kyung Sue; Hahn, Youn Soo; Lee, So Young; Kim, Joong Gon

    2014-01-01

    Chronic granulomatous disease (CGD) is a rare hereditary disorder that is characterized by a greatly increased susceptibility to life-threatening bacterial and fungal infections. CGD is caused by mutations in any one of the genes encoding subunits of phagocyte NADPH oxidase. X-linked CGD, more than half of all CGD cases, is caused by mutations in CYBB gene encoding gp91-phox subunit. We identified the mutations in the CYBB gene of 29 Korean patients with X-linked CGD from 26 unrelated families. Twenty-three mutations were identified: five splice site mutations (c.45 + 1G > C, c.141 + 5G > A, c.897 + 2T > C c.1461 + 1G > T, c.1586 + 2T > A), four frameshift mutations (c.27dupG, [c.737A > C; c.742delA], c.742dupA, c.1636 del C), seven non-sense mutations (c217C > T, c.469C > T, c.676C > T, c.868C > T, c.1222G > T, c.1272G > A, c.1281T > A), five missense mutations (c.164 C > A, c.422T > C, c.665 A > G, c.1012C > T, c.1461G > T) and two gross deletions. Eight out of 23 mutations identified in this study are novel mutations: two splice mutations(c.897 + 2T > C, c.1586 + 2T > A), two frame shift mutations ([c.737A > C; c.742delA], c.1636 del C), two nonsense mutations (c.1222G > T, c.1281T > A), one missense mutation (c.1461G > T), one gross deletion (c.1667_1629 del.). Our results confirmed that mutations of CYBB gene in the X-CGD are very heterogeneous and not show the peculiarity of the ethnic group. PMID:24999735

  19. [A case diagnosed with chronic granulomatous disease after disseminated infection following BCG vaccination].

    Science.gov (United States)

    Delibalta, Güler; Seringeç, Murat; Öncül, Oral

    2015-07-01

    BCG (Bacillus Calmette-Guérin) vaccine is a widely used vaccine with the recommendation of World Health Organization to protect children against miliary tuberculosis (TB) and TB meningitis. Severe side effects related to this vaccine mostly manifest in the presence of underlying immunosuppressive disease. In this report, an infant case with unknown chronic granulomatous disease (CGD) who developed disseminated BCG infection after administration of BCG vaccine, was presented. High fever, left axillary lymphadenopathy and hepatosplenomegaly have developed in a 3-month 28-day female infant, without a known health problem, following BCG vaccination. The acid-fast bacilli (ARB) was isolated from the material of excised lymph node cultivated in Löwenstein-Jensen medium, and the isolate was identified as Mycobacterium bovis. Mycobacterium tuberculosis complex DNA was detected in the axillary lymph node sample by polymerase chain reaction. Anti-tuberculous treatment included 20 mg/kg of rifampicin+10 mg/kg of isoniazid+15 mg/kg of ethambutol+30 mg/kg of streptomycin was started. The patient was then further evaluated for immunodeficiency and on the basis of the results of dihydroamine and LAD (lymphocyte adhesion defect) tests, diagnosed as autosomal recessive CGD. Based on the anamnesis, there was no known immunodeficiency history both in the case during neonatal period and her family members. Interferon-gamma therapy, which is recommended for the patients with CGD living in endemic areas, was initiated. Our patient's fever dropped at the 15th day of anti-tuberculosis treatment, and she was discharged on the 35th day and continued to receive treatment at home. The patient was followed up at outpatient clinic and had no additional complaints; her hepatosplenomegaly was back to normal at the third month. As a result, since BCG vaccine is contraindicated in CGD carriers, newborns with a family history of CGD should be immunologically examined and BCG vaccine should be

  20. A case of macrophage activation syndrome developing in a patient with chronic granulomatous disease-associated colitis.

    Science.gov (United States)

    Akagi, Kazuko; Kawai, Toshinao; Watanabe, Nobuyuki; Yokoyama, Midori; Arai, Katsuhiro; Harayama, Shizuko; Oana, Shinji; Onodera, Masafumi

    2014-04-01

    Although macrophage activation syndrome (MAS) develops in some patients with chronic granulomatous disease (CGD), all of the reported cases have been associated with pathogenic microbial infections. We report a 2-year-old boy with CGD-associated colitis who suffered from MAS without any clinical signs of a microbial infection. He was treated with 1 course of methylprednisolone pulse therapy and the clinical symptoms improved; however, the colitis was difficult to control even with immunosuppressive drugs, and he eventually required hematopoietic stem cell transplantation 1 year after the onset of MAS. It is likely that MAS develops in patients with CGD colitis independent of microbial infections. PMID:23652865

  1. Humans with chronic granulomatous disease maintain humoral immunologic memory despite low frequencies of circulating memory B cells

    OpenAIRE

    Moir, Susan; De Ravin, Suk See; Santich, Brian H.; Kim, Jin Young; Posada, Jacqueline G.; Ho, Jason; Buckner, Clarisa M.; Wang, Wei; Kardava, Lela; Garofalo, Mary; Marciano, Beatriz E.; Manischewitz, Jody; King, Lisa R.; Khurana, Surender; Chun, Tae-Wook

    2012-01-01

    CD27+ memory B cells are reduced in the blood of patients with chronic granulomatous disease (CGD) for reasons and consequences that remain unclear. Here we confirm not only decreased CD27+ but also IgG+ B cells in the blood of CGD patients compared with healthy donors (HDs). However, among IgG+ B cells, the ratio of CD27− to CD27+ was significantly higher in CGD patients compared with HDs. Similar to conventional memory B cells, CD27−IgG+ B cells of CGD patients expressed activation markers ...

  2. PARA VERTEBRAL ABSCESS AND RIB OSTEOMYELITIS DUE TO ASPERGILLOUS FUMIGATOUS IN A PATIENT WITH CHRONIC GRANULOMATOUS DISEASE

    Directory of Open Access Journals (Sweden)

    A. Farhoiidi

    2003-03-01

    Full Text Available Chronic granulomatous disease is an infrequent primary immunodeficiency characterized by defective intracellular killing of ingested microorganisms thereby making patients highly susceptible to recurrent lite threatening bacterial and fungal infections. In this study, we review the medical course of an 8 yr old girl with AR-CGD. She suffered from recurrent dermal and deep abscesses, retractable salmonellosis, disseminated BCGosis, recurrent aspergillus infection presenting as mandibular osteomyelitis and pulmonary involvement with invasion to rib and vertebral bodies. Despite of longterm IV amphotricin B, itraconazole and IFN-y administration, and surgical interventions (drainage and resection, she died in spite of long term antibiotic anti fungal prophylaxis and interferon-gamma administrations, invasive aspergillosis resistant to current conventional therapies is the cause of 1/2 to 1/3 of CGD deaths.

  3. Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

    Directory of Open Access Journals (Sweden)

    Saul Oswaldo Lugo Reyes

    2013-01-01

    Full Text Available Chronic granulomatous disease (CGD is a primary immunodeficiency characterized by increased susceptibility to bacteria and fungi since early in life, caused by mutations in any of the five genes coding for protein subunits in NADPH oxidase. X-linked variant CGD can be missed during routine evaluation or present later in life due to hypomorphic mutations and a residual superoxide production. The case of a 10-month-old boy who died of pneumonia is reported. The isolation of Burkholderia cepacia from his lung, together with a marginally low nitroblue tetrazolium reduction assay (NBT, made us suspect and pursue the molecular diagnosis of CGD. A postmortem genetic analysis finally demonstrated CGD caused by a hypomorphic missense mutation with normal gp91phox expression. In a patient being investigated for unusually severe or recurrent infection, a high index of suspicion of immunodeficiency must be maintained.

  4. Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease

    OpenAIRE

    Song, Sang-Mi; Park, Mi-Ran; Kim, Do-Soo; Kim, Jihyun; Kim, Yae-Jean; Ki, Chang-Seok; Ahn, Kangmo

    2014-01-01

    Chronic granulomatous disease (CGD) is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation...

  5. CRISPR-mediated genotypic and phenotypic correction of a chronic granulomatous disease mutation in human iPS cells.

    Science.gov (United States)

    Flynn, Rowan; Grundmann, Alexander; Renz, Peter; Hänseler, Walther; James, William S; Cowley, Sally A; Moore, Michael D

    2015-10-01

    Chronic granulomatous disease (CGD) is a rare genetic disease characterized by severe and persistent childhood infections. It is caused by the lack of an antipathogen oxidative burst, normally performed by phagocytic cells to contain and clear bacterial and fungal growth. Restoration of immune function can be achieved with heterologous bone marrow transplantation; however, autologous bone marrow transplantation would be a preferable option. Thus, a method is required to recapitulate the function of the diseased gene within the patient's own cells. Gene therapy approaches for CGD have employed randomly integrating viruses with concomitant issues of insertional mutagenesis, inaccurate gene dosage, and gene silencing. Here, we explore the potential of the recently described clustered regularly interspaced short palindromic repeat (CRISPR)-Cas9 site-specific nuclease system to encourage repair of the endogenous gene by enhancing the levels of homologous recombination. Using induced pluripotent stem cells derived from a CGD patient containing a single intronic mutation in the CYBB gene, we show that footprintless gene editing is a viable option to correct disease mutations. Gene correction results in restoration of oxidative burst function in iPS-derived phagocytes by reintroduction of a previously skipped exon in the cytochrome b-245 heavy chain (CYBB) protein. This study provides proof-of-principle for a gene therapy approach to CGD treatment using CRISPR-Cas9. PMID:26101162

  6. Targeted gene addition in human CD34(+) hematopoietic cells for correction of X-linked chronic granulomatous disease.

    Science.gov (United States)

    De Ravin, Suk See; Reik, Andreas; Liu, Pei-Qi; Li, Linhong; Wu, Xiaolin; Su, Ling; Raley, Castle; Theobald, Narda; Choi, Uimook; Song, Alexander H; Chan, Andy; Pearl, Jocelynn R; Paschon, David E; Lee, Janet; Newcombe, Hannah; Koontz, Sherry; Sweeney, Colin; Shivak, David A; Zarember, Kol A; Peshwa, Madhusudan V; Gregory, Philip D; Urnov, Fyodor D; Malech, Harry L

    2016-04-01

    Gene therapy with genetically modified human CD34(+) hematopoietic stem and progenitor cells (HSPCs) may be safer using targeted integration (TI) of transgenes into a genomic 'safe harbor' site rather than random viral integration. We demonstrate that temporally optimized delivery of zinc finger nuclease mRNA via electroporation and adeno-associated virus (AAV) 6 delivery of donor constructs in human HSPCs approaches clinically relevant levels of TI into the AAVS1 safe harbor locus. Up to 58% Venus(+) HSPCs with 6-16% human cell marking were observed following engraftment into mice. In HSPCs from patients with X-linked chronic granulomatous disease (X-CGD), caused by mutations in the gp91phox subunit of the NADPH oxidase, TI of a gp91phox transgene into AAVS1 resulted in ∼15% gp91phox expression and increased NADPH oxidase activity in ex vivo-derived neutrophils. In mice transplanted with corrected HSPCs, 4-11% of human cells in the bone marrow expressed gp91phox. This method for TI into AAVS1 may be broadly applicable to correction of other monogenic diseases. PMID:26950749

  7. First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching.

    Science.gov (United States)

    Reichenbach, Janine; Van de Velde, Hilde; De Rycke, Martine; Staessen, Cathérine; Platteau, Peter; Baetens, Patricia; Güngör, Tayfun; Ozsahin, Hulya; Scherer, Franziska; Siler, Ulrich; Seger, Reinhard A; Liebaers, Inge

    2008-09-01

    Allogeneic hematopoietic stem cell transplantation from an human leukocyte antigen (HLA)-identical donor is currently the only proven curative treatment for chronic granulomatous disease. Hematopoietic stem cell transplantation with alternative donors is associated with higher morbidity and mortality. Therefore, we performed in vitro fertilization and preimplantation HLA matching combined with female sexing for hematopoietic stem cell transplantation in chronic granulomatous disease. Ethical and psychological issues were considered carefully. We used in vitro fertilization with X-enriched spermatozoa followed by preimplantation genetic diagnosis to identify female HLA-genoidentical embryos in a family in need of a suitable donor for their boy affected with severe X-linked chronic granulomatous disease. Two preimplantation genetic diagnosis cycles were performed in the family. In the second cycle, 2 HLA-genoidentical female embryos were transferred and a singleton pregnancy was obtained, resulting in the birth of an unaffected girl at term. Because of insufficient cell numbers in the cord-blood source, conventional hematopoietic stem cell transplantation had to be performed at 12 months of age of the donor and 5 years of age of the recipient and resulted in complete stable donor chimerism and immunologic reconstitution up to 25 months post-hematopoietic stem cell transplantation. Hematopoietic stem cell transplantation after in vitro fertilization and combined female sexing and HLA matching offers a new and relatively rapid therapeutic option for patients with X-linked primary immunodeficiency such as chronic granulomatous disease who need hematopoietic stem cell transplantation but lack an HLA-genoidentical donor. PMID:18762514

  8. Impaired Phagocytosis of Apoptotic Cells by Macrophages in Chronic Granulomatous Disease Is Reversed by IFN-γ in a Nitric Oxide-Dependent Manner

    OpenAIRE

    Fernandez-Boyanapalli, Ruby; McPhillips, Kathleen A.; Frasch, S. Courtney; Janssen, William J.; Dinauer, Mary C.; Riches, David W.H.; Henson, Peter M.; Byrne, Aideen; Bratton, Donna L.

    2010-01-01

    Immunodeficiency in chronic granulomatous disease (CGD) is well characterized. Less understood are exaggerated sterile inflammation and autoimmunity associated with CGD. Impaired recognition and clearance of apoptotic cells resulting in their disintegration may contribute to CGD inflammation. We hypothesized that priming of macrophages (Mϕs) with IFN-γ would enhance impaired engulfment of apoptotic cells in CGD. Diverse Mϕ populations from CGD (gp91phox−/−) and wild-type mice, as well as huma...

  9. Simultaneous Host-Pathogen Transcriptome Analysis during Granulibacter bethesdensis Infection of Neutrophils from Healthy Subjects and Patients with Chronic Granulomatous Disease

    OpenAIRE

    Greenberg, David E.; Sturdevant, Daniel E.; Marshall-Batty, Kimberly R.; Chu, Jessica; Pettinato, Anthony M.; Virtaneva, Kimmo; Lane, John; Geller, Bruce L.; Porcella, Stephen F.; Gallin, John I.; Holland, Steven M.; Zarember, Kol A.

    2015-01-01

    Polymorphonuclear leukocytes (PMN) from patients with chronic granulomatous disease (CGD) fail to produce microbicidal concentrations of reactive oxygen species (ROS) due to mutations in NOX2. Patients with CGD suffer from severe, life-threatening infections and inflammatory complications. Granulibacter bethesdensis is an emerging Gram-negative pathogen in CGD that resists killing by PMN of CGD patients (CGD PMN) and inhibits PMN apoptosis through unknown mechanisms. Microarray analysis was u...

  10. Absence of Respiratory Burst in X-linked Chronic Granulomatous Disease Mice Leads to Abnormalities in Both Host Defense and Inflammatory Response to Aspergillus fumigatus

    OpenAIRE

    Morgenstern, David E.; Gifford, Mary A.C.; Li, Ling Lin; Doerschuk, Claire M.; Dinauer, Mary C.

    1997-01-01

    Mice with X-linked chronic granulomatous disease (CGD) generated by targeted disruption of the gp91 phox subunit of the NADPH–oxidase complex (X-CGD mice) were examined for their response to respiratory challenge with Aspergillus fumigatus. This opportunistic fungal pathogen causes infection in CGD patients due to the deficient generation of neutrophil respiratory burst oxidants important for damaging A. fumigatus hyphae. Alveolar macrophages from X-CGD mice were found to kill A. fumigatus co...

  11. Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease–mediated safe harbor targeting

    OpenAIRE

    Zou, Jizhong; Sweeney, Colin L; Chou, Bin-Kuan; Choi, Uimook; Pan, Jason; WANG, HONGMEI; Dowey, Sarah N.; Cheng, Linzhao; Malech, Harry L.

    2011-01-01

    We have developed induced pluripotent stem cells (iPSCs) from a patient with X-linked chronic granulomatous disease (X-CGD), a defect of neutrophil microbicidal reactive oxygen species (ROS) generation resulting from gp91phox deficiency. We demonstrated that mature neutrophils differentiated from X-CGD iPSCs lack ROS production, reproducing the pathognomonic CGD cellular phenotype. Targeted gene transfer into iPSCs, with subsequent selection and full characterization to ensure no off-target c...

  12. Altered pattern of Naïve and memory B cells and B1 cells in patients with chronic granulomatous disease.

    OpenAIRE

    2014-01-01

    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder characterized by a greatly increased susceptibility to severe fungal and bacterial infections caused by defects in NADPH oxidase of phagocytic cells. We aimed to investigate immunophenotype alterations of naïve and memory B cells and B1a cells in peripheral whole blood from Iranian patients with CGD. Flow cytometric analysis was performed on peripheral blood samples from 31 CGD patients and 23 healthy controls (HC...

  13. Virulence of catalase-deficient aspergillus nidulans in p47(phox)-/- mice. Implications for fungal pathogenicity and host defense in chronic granulomatous disease.

    OpenAIRE

    Chang, Y.C.; Segal, B.H.; Holland, S M; Miller, G.F.; Kwon-Chung, K. J.

    1998-01-01

    Chronic granulomatous disease (CGD) is a rare genetic disorder in which phagocytes fail to produce superoxide because of defects in one of several components of the NADPH oxidase complex. As a result, patients develop recurrent life-threatening bacterial and fungal infections. The organisms to which CGD patients are most susceptible produce catalase, regarded as an important factor for microbial pathogenicity in CGD. To test the role of pathogen-derived catalase in CGD directly, we have gener...

  14. Staphylococci surviving intracellularly in phagocytes from patients suffering from chronic granulomatous disease are killed in vitro by antibiotics encapsulated in liposomes.

    OpenAIRE

    Roesler, J.; Hockertz, S; Vogt, B.; Lohmann-Matthes, M L

    1991-01-01

    Granulocytes and monocytes/macrophages from patients suffering from chronic granulomatous disease (CGD) are ineffective in killing specific kinds of phagocytized bacteria, e.g., Staphylococcus aureus, due to decreased or lacking ability to produce reactive oxygen intermediates. Commonly used antibiotics like flucloxacillin are of limited therapeutic value, because the staphylococci are protected against their action in the interior of phagocytes. However, encapsulation of flucloxacillin into ...

  15. Diagnostic and therapeutic impact of whole body positron emission tomography using fluorine-18-fluoro-2-deoxy-D-glucose in children with chronic granulomatous disease

    OpenAIRE

    Gungor, T; Engel-Bicik, I; Eich, G.; Willi, U; Nadal, D; Hossle, J; Seger, R.; Steinert, H

    2001-01-01

    AIMS—To compare whole body positron emission tomography (PET) using fluorine-18-fluoro-2-deoxy-D-glucose (FDG) with computed tomography (CT) in detecting active infective foci in children with chronic granulomatous disease.
METHODS—We performed 22 whole body FDG PET studies in seven children with X linked (n = 6) or autosomal recessive (n = 1) CGD. All had clinical signs of infection and/or were evaluated prior to bone marrow transplantation (BMT). Nineteen PET studies...

  16. A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews.

    Science.gov (United States)

    de Boer, Martin; Tzur, Shay; van Leeuwen, Karin; Dencher, Paula C D; Skorecki, Karl; Wolach, Baruch; Gavrieli, Ronit; Nasidze, Ivane; Stoneking, Mark; Tanck, Michael W T; Roos, Dirk

    2015-12-01

    Chronic granulomatous disease (CGD) is a rare congenital immune deficiency caused by mutations in any of the five genes encoding NADPH oxidase subunits. One of these genes is NCF1, encoding the p47(phox) protein. A group of 39 patients, 14 of whom are of Kavkazi Jewish descent, was investigated for a founder effect for the mutation c.579G>A (p.Trp193Ter) in NCF1. We analyzed various genetic markers in the NCF1 region, including two single nucleotide polymorphisms (SNPs) in NCF1 and two short tandem repeats (STRs) located near NCF1. Most patients were homozygous for the c.579G>A mutation, but three patients were hemizygotes, with a deletion of NCF1 on the other allele, and three patients were compound heterozygotes with another mutation in NCF1. All Kavkazi Jewish patients had a c.295G_c.345T SNP combination in NCF1 and shared a common number of repeats in STR3. In addition, 90% of the Kavkazi Jewish patients shared a common number of repeats in STR1. This uniformity indicates that the c.579G>A mutation in NCF1 was introduced some 1200-2300 years ago in the Kavkazi Jewish population. Variation amongst the other investigated populations from the Middle East indicates that this mutation exists in these non-Kavkazi populations already for more than 5000 years. PMID:26460255

  17. An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease.

    Science.gov (United States)

    Merling, Randall K; Sweeney, Colin L; Chu, Jessica; Bodansky, Aaron; Choi, Uimook; Priel, Debra Long; Kuhns, Douglas B; Wang, Hongmei; Vasilevsky, Sam; De Ravin, Suk See; Winkler, Thomas; Dunbar, Cynthia E; Zou, Jizhong; Zarember, Kol A; Gallin, John I; Holland, Steven M; Malech, Harry L

    2015-01-01

    There are five genetic forms of chronic granulomatous disease (CGD), resulting from mutations in any of five subunits of phagocyte oxidase, an enzyme complex in neutrophils, monocytes, and macrophages that produces microbicidal reactive oxygen species. We generated induced pluripotent stem cells (iPSCs) from peripheral blood CD34(+) hematopoietic stem cells of patients with each of five CGD genotypes. We used zinc finger nuclease (ZFN) targeting the AAVS1 safe harbor site together with CGD genotype-specific minigene plasmids with flanking AAVS1 sequence to target correction of iPSC representing each form of CGD. We achieved targeted insertion with constitutive expression of desired oxidase subunit in 70-80% of selected iPSC clones. Neutrophils and macrophages differentiated from corrected CGD iPSCs demonstrated restored oxidase activity and antimicrobial function against CGD bacterial pathogens Staphylococcus aureus and Granulibacter bethesdensis. Using a standard platform that combines iPSC generation from peripheral blood CD34(+) cells and ZFN mediated AAVS1 safe harbor minigene targeting, we demonstrate efficient generation of genetically corrected iPSCs using an identical approach for all five genetic forms of CGD. This safe harbor minigene targeting platform is broadly applicable to a wide range of inherited single gene metabolic disorders. PMID:25288370

  18. Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous disease.

    Science.gov (United States)

    Vilaiphan, Prapaporn; Chatchatee, Pantipa; Ngamphaiboon, Jarungchit; Tongkobpetch, Siraprapa; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

    2007-12-01

    X-linked chronic granulomatous disease (X-CGD) is an immunodeficiency disorder characterized by defective intracellular killing of microorganisms due to the neutrophils' inability to generate superoxide ions. Although it is always caused by mutations in the CYBB gene, clinical and molecular characteristics vary in different ethnic backgrounds. Two unrelated Thai boys presented with severe persistent pulmonary infections at the age of two months. Their abnormal dihydrorhodamine (DHR) flow cytometry assays supported the diagnosis of X-CGD. Mutation analysis was performed by polymerase chain reaction (PCR) amplification and sequencing of the entire coding regions of CYBB. Mutations identified were confirmed by restriction enzyme analyses. PCR-sequencing of the entire coding regions of CYBB identified nonsense mutations, 271C>T (R91X) in exon 4 and 456T>A (Y152X) in exon 5, in probands of each family. Both of the patients' mothers were found to be carriers. This observation supports that CYBB is the gene responsible for X-CGD across different populations and nonsense mutations are associated with severe phenotypes. PMID:18402298

  19. TALEN-mediated functional correction of X-linked chronic granulomatous disease in patient-derived induced pluripotent stem cells.

    Science.gov (United States)

    Dreyer, Anne-Kathrin; Hoffmann, Dirk; Lachmann, Nico; Ackermann, Mania; Steinemann, Doris; Timm, Barbara; Siler, Ulrich; Reichenbach, Janine; Grez, Manuel; Moritz, Thomas; Schambach, Axel; Cathomen, Toni

    2015-11-01

    X-linked chronic granulomatous disease (X-CGD) is an inherited disorder of the immune system. It is characterized by a defect in the production of reactive oxygen species (ROS) in phagocytic cells due to mutations in the NOX2 locus, which encodes gp91phox. Because the success of retroviral gene therapy for X-CGD has been hampered by insertional activation of proto-oncogenes, targeting the insertion of a gp91phox transgene into potential safe harbor sites, such as AAVS1, may represent a valid alternative. To conceptually evaluate this strategy, we generated X-CGD patient-derived induced pluripotent stem cells (iPSCs), which recapitulate the cellular disease phenotype upon granulocytic differentiation. We examined AAVS1-specific zinc-finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs) for their efficacy to target the insertion of a myelo-specific gp91phox cassette to AAVS1. Probably due to their lower cytotoxicity, TALENs were more efficient than ZFNs in generating correctly targeted iPSC colonies, but all corrected iPSC clones showed no signs of mutations at the top-ten predicted off-target sites of both nucleases. Upon differentiation of the corrected X-CGD iPSCs, gp91phox mRNA levels were highly up-regulated and the derived granulocytes exhibited restored ROS production that induced neutrophil extracellular trap (NET) formation. In conclusion, we demonstrate that TALEN-mediated integration of a myelo-specific gp91phox transgene into AAVS1 of patient-derived iPSCs represents a safe and efficient way to generate autologous, functionally corrected granulocytes. PMID:26295532

  20. Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease.

    Science.gov (United States)

    Song, Sang-Mi; Park, Mi-Ran; Kim, Do-Soo; Kim, Jihyun; Kim, Yae-Jean; Ki, Chang-Seok; Ahn, Kangmo

    2014-07-01

    Chronic granulomatous disease (CGD) is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation, a c.1133A>G (paAsp378Gly) missense mutation, in the CYBB gene. PMID:24991462

  1. The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease

    Directory of Open Access Journals (Sweden)

    Agudelo-Flórez P.

    2004-01-01

    Full Text Available Chronic granulomatous disease (CGD is an inherited disorder of the innate immune system characterized by a defective oxidative burst of phagocytes and subsequent impairment of their microbicidal activity. Mutations in one of the NADPH-oxidase components affect gene expression or function of this system, leading to the phenotype of CGD. Defects in gp91-phox lead to X-linked CGD, responsible for approximately 70% of CGD cases. Investigation of the highly heterogeneous genotype of CGD patients includes mutation analysis, Northern blot or Western blot assays according to the particular case. The aim of the present study was to use reverse transcription (RT-PCR for the analysis of molecular defects responsible for X-linked CGD in eight Brazilian patients and to assess its potential for broader application to molecular screening in CGD. Total RNA was prepared from Epstein B virus-transformed B-lymphocytes and reverse transcribed using random hexamers. The resulting cDNA was PCR-amplified by specific and overlapping pairs of primers designed to amplify three regions of the gp91-phox gene: exons 1-5, 3-9, and 7-13. This strategy detected defective gp91-phox expression in seven patients. The RT-PCR results matched clinical history, biochemical data (nitroblue tetrazolium or superoxide release assay and available mutation analysis in four cases. In three additional cases, RT-PCR results matched clinical history and biochemical data. In another case, RT-PCR was normal despite a clinical history compatible with CGD and defective respiratory burst. We conclude that this new application of RT-PCR analysis - a simple, economical and rapid method - was appropriate for screening molecular defects in 7 of 8 X-linked CGD patients.

  2. IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans.

    Science.gov (United States)

    de Luca, Antonella; Smeekens, Sanne P; Casagrande, Andrea; Iannitti, Rossana; Conway, Kara L; Gresnigt, Mark S; Begun, Jakob; Plantinga, Theo S; Joosten, Leo A B; van der Meer, Jos W M; Chamilos, Georgios; Netea, Mihai G; Xavier, Ramnik J; Dinarello, Charles A; Romani, Luigina; van de Veerdonk, Frank L

    2014-03-01

    Patients with chronic granulomatous disease (CGD) have a mutated NADPH complex resulting in defective production of reactive oxygen species; these patients can develop severe colitis and are highly susceptible to invasive fungal infection. In NADPH oxidase-deficient mice, autophagy is defective but inflammasome activation is present despite lack of reactive oxygen species production. However, whether these processes are mutually regulated in CGD and whether defective autophagy is clinically relevant in patients with CGD is unknown. Here, we demonstrate that macrophages from CGD mice and blood monocytes from CGD patients display minimal recruitment of microtubule-associated protein 1 light chain 3 (LC3) to phagosomes. This defect in autophagy results in increased IL-1β release. Blocking IL-1 with the receptor antagonist (anakinra) decreases neutrophil recruitment and T helper 17 responses and protects CGD mice from colitis and also from invasive aspergillosis. In addition to decreased inflammasome activation, anakinra restored autophagy in CGD mice in vivo, with increased Aspergillus-induced LC3 recruitment and increased expression of autophagy genes. Anakinra also increased Aspergillus-induced LC3 recruitment from 23% to 51% (P CGD patients. The clinical relevance of these findings was assessed by treating CGD patients who had severe colitis with IL-1 receptor blockade using anakinra. Anakinra treatment resulted in a rapid and sustained improvement in colitis. Thus, inflammation in CGD is due to IL-1-dependent mechanisms, such as decreased autophagy and increased inflammasome activation, which are linked pathological conditions in CGD that can be restored by IL-1 receptor blockade. PMID:24550444

  3. Chronic granulomatous disease with gastric antral narrowing: a study and follow-up by MRI

    International Nuclear Information System (INIS)

    We report the case of a boy with chronic septic granulomatosis (CSG) who presented with a marked gastric antrum narrowing which was evaluated by MRI after oral intake of magnetic contrast particles, and after gadolinium i.v. administration. In particular, a mammillated aspect of the gastric wall in the antral region was seen. Follow-up by MRI clearly showed the gradual resolution of hyperemic wall thickness, after medical management. The antral stenosis resolved after 3 months. Magnetic resonance imaging provides detailed evaluation of gastric wall inflammation in course of CSG. (orig.)

  4. Gene therapy for chronic granulomatous disease: current status and future perspectives.

    Science.gov (United States)

    Kaufmann, Kerstin B; Chiriaco, Maria; Siler, Ulrich; Finocchi, Andrea; Reichenbach, Janine; Stein, Stefan; Grez, Manuel

    2014-01-01

    Several Phase I/II clinical trials aiming at the correction of X-linked CGD by gene transfer into hematopoietic stem cells (HSCs) have demonstrated the therapeutic potential of gene modified autologous HSCs for the treatment of CGD. Resolution of therapy-resistant bacterial and fungal infections in liver, lung and spinal canal of CGD patients were clearly documented in all trials. However, clinical benefits were not sustained over time due to the failure of gene transduced cells to engraft long-term. Moreover, severe adverse effects were observed in some of the treated patients due to insertional mutagenesis leading to the activation of growth promoting genes and to myeloid malignancy. These setbacks fostered the development of novel safety and efficacy improved vectors that have already entered or are about to enter the clinics. Meanwhile, ongoing research is constantly refining the CGD disease phenotype, including the definition of factors that may explain the unique engraftment phenotype observed in CGD gene therapy trials. This review provides a condensed overview on the current knowledge of the molecular pathomechanisms and clinical manifestations of CGD and summarizes the lessons learned from clinical gene therapy trials, the preclinical progress in vector design and the future perspectives for the gene therapy of CGD. PMID:25245086

  5. Genetic Analysis of 10 Unrelated Korean Families with p22-phox-deficient Chronic Granulomatous Disease: An Unusually Identical Mutation of the CYBA Gene on Jeju Island, Korea

    OpenAIRE

    Kim, Young Mee; Park, Ji Eun; Kim, Jin Young; Lim, Hee Kyung; Nam, Jae Kook; Cho, Moonjae; Shin, Kyung-Sue

    2009-01-01

    Chronic granulomatous disease (CGD) is a rare hereditary disorder characterized by recurrent life-threatening bacterial and fungal infections. The underlying defect in CGD is an inability of phagocytes to produce reactive oxygen species as a result of defects in NADPH oxidase. Considering that CGD generally affects about 3-4 in 1,000,000 individuals, it is surprising that the prevalence of CGD on Jeju Island is 20.7 in 1,000,000 individuals. We performed genetic analysis on 12 patients from 1...

  6. Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).

    OpenAIRE

    Boer, M.; Klein, A; Hossle, J P; Seger, R.; Corbeel, L; Weening, R S; Roos, D.

    1992-01-01

    Chronic granulomatous disease (CGD) is characterized by the failure of activated phagocytes to generate superoxide. Defects in at least four different genes lead to CGD. Patients with the X-linked form of CGD have mutations in the gene for the beta-subunit of cytochrome b558 (gp91-phox). Patients with a rare autosomal recessive form of CGD have mutations in the gene for the alpha-subunit of this cytochrome (p22-phox). Usually, this leads to the absence of cytochrome b558 in the phagocytes (A2...

  7. Gene targeting of X chromosome-linked chronic granulomatous disease locus in a human myeloid leukemia cell line and rescue by expression of recombinant gp91phox.

    OpenAIRE

    Zhen, L.; KING, A.A.; Xiao, Y.; Chanock, S. J.; Orkin, S H; Dinauer, M.C.

    1993-01-01

    The X chromosome-linked chronic granulomatous disease (X-CGD) locus, which encodes the gp91phox subunit of the phagocyte respiratory-burst oxidase cytochrome b, was disrupted by homologous recombination in the PLB-985 human myeloid cell line to develop an in vitro model of X-CGD. Superoxide formation was absent in targeted cells after differentiation to granulocytes but was rescued by stable transfection and expression of wild-type gp91phox cDNA. The targeted cell line should be useful in exp...

  8. Pulmonary aspergillosis as first manifestation of chronic granulomatous disease in enzygotic twins-use of FDG-PET in diagnosing spread of disease

    International Nuclear Information System (INIS)

    Purpose. To present the unusual case of chronic granulomatous disease (CGD) manifestating as pulmonal aspergillosis in female enzygotic twins during the neonatal period. To demonstrate and to discuss the complex diagnosis and the diagnostic value of FDG-PET in monitoring the spread and activity of the disease. Patients. Plain chest X-ray and CT of the lung showed multiple, mostly round lesions in one of the former preterm twins at the age of 8 weeks. The girl with known ASD II was then suffering from dyspnoea and recurrent pulmonary infections. Because of the imaging findings invasive pulmonary aspergillosis due to an underlying immunodeficiency was suspected. Results. Aspergillosis was confirmed histologically and microbiologically by specimens taken from an open lung biopsy. Because of coexisting granulocytic dysfunction the diagnosis of CGD was made. This diagnosis was equally confirmed by noninvasive methods in the asymptomatic sister. FDG-PET did not show any evidence of extrapulmonary spread of disease. Conclusion. CGD can present as isolated pulmonal aspergillosis even in the neonatal period when an immunodeficiency is discussed. In enzygotic twins screening of the asymptomatic twin is mandatory. FDG-PET is a useful tool in screening for spread of the disease and in evaluating disease activity. (orig.)

  9. Autosomal Recessive Chronic Granulomatous Disease, IgA Deficiency and Refractory Autoimmune Thrombocytopenia Responding to Anti-CD20 Monoclonal Antibody

    Directory of Open Access Journals (Sweden)

    Shahin Shamsian Bibi

    2008-09-01

    Full Text Available Immunodeficiency and autoimmune disease may occur concomitantly in the same individual. Some of the immunodeficiency syndromes, especially humoral defects are associated with autoimmune disorders. Hematological manifestations such as thrombocytopenia and hemolytic anemia are the most common presentations. Persistent antigen stimulation due to an inherent defect in the ability of the immune system to eradicate pathogens is the primary cause leading to autoimmunity in patients with primary immunodeficiency states.We describe a 10 year old Iranian girl with chronic granulomatous disease -the autosomal recessive type with mutation of NCF1 gene P47- associated with selective IgA deficiency, refractory immune thrombocytopenia that showed an excellent response to Rituximab (Anti-CD20 monoclonal antibody.Patients with primary immunodeficiencies may have variable autoimmune manifestations. So for early detection and appropriate treatment, autoimmune diseases should always be suspected in such patients.

  10. Successful Unrelated Cord Blood Stem Cell Transplantation in an X-linked Chronic Granulomatous Disease Patient with Disseminated BCG-induced Infection.

    Science.gov (United States)

    Lin, Chao-Jen; Wang, Shih-Chung; Ku, Cheng-Lung; Kao, Jun-Kai; Chen, Ming; Liu, Chin-San

    2015-10-01

    A 19-month-old boy with chronic granulomatous disease (CGD) received umbilical cord blood transplantation (UCBT) from an unrelated donor after experiencing a life-threatening disseminated Bacillus Calmette-Guérin infection. After busulfan and cyclophosphamide conditioning, we performed a 5/6-matched UCBT. Engraftment and mixed chimerism was 100% in peripheral blood, and 100% of his neutrophils had normal oxidative burst activity on day 17. The patient is now 3 years old, free from infection, and growing well. To our knowledge, this is the second case of CGD treated with UCBT in Taiwan. His successful outcome illustrates that UCBT in a patient with CGD should be considered early if a human leukocyte antigen-matched donor is not available or the patient has just recovered from a severe infection. PMID:23680261

  11. P67-phox (NCF2 lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD.

    Directory of Open Access Journals (Sweden)

    Joachim Roesler

    Full Text Available Two brothers in their fifties presented with a medical history of suspected fungal allergy, allergic bronchopulmonary aspergillosis, alveolitis, and invasive aspergillosis and pulmonary fistula, respectively. Eventually, after a delay of 50 years, chronic granulomatous disease (CGD was diagnosed in the index patient. We found a new splice mutation in the NCF2 (p67-phox gene, c.1000 + 2T → G, that led to several splice products one of which lacked exons 11 and 12. This deletion was in frame and allowed for remarkable residual NADPH oxidase activity as determined by transduction experiments using a retroviral vector. We conclude that p67-phox which lacks the 34 amino acids encoded by the two exons can still exert considerable functional activity. This activity can partially explain the long-term survival of the patients without adequate diagnosis and treatment, but could not prevent progressing lung damage.

  12. Granulomatous disease in the head and neck: developing a differential diagnosis.

    Science.gov (United States)

    Nwawka, O Kenechi; Nadgir, Rohini; Fujita, Akifumi; Sakai, Osamu

    2014-01-01

    Granulomatous diseases have a varied etiology that includes autoimmune, infectious, idiopathic, and hereditary causes. The unifying factor in these diseases is the formation of granulomas, which histologically are mononuclear inflammatory cells or macrophages surrounded by lymphocytes. Granulomatous diseases often have systemic manifestations that affect organs throughout the body. Granulomatous diseases with head and neck manifestations include granulomatosis with polyangiitis, Churg-Strauss syndrome, Behçet disease, chronic granulomatous disease, and sarcoidosis. Infectious causes include tuberculosis, cat-scratch disease, syphilis, leprosy, actinomycosis, rhinoscleroma, and fungal infections. In the head and neck, granulomatous disease may affect the orbits, sinonasal cavities, salivary glands, aerodigestive tract, temporal bone, or skull base. Imaging findings include sinonasal opacification, ocular and other soft-tissue masses, osseous erosion, airway narrowing, lymphadenopathy, and salivary gland infiltration. Vascular involvement may also be evident, with displacement, narrowing, or occlusion of arteries and veins. Some radiologic findings of granulomatous processes have a considerable overlap with findings of malignancy, and a radiologic differential diagnosis inclusive of both is critical to avoid incorrect clinical treatment. Without the benefit of a prior clinical diagnosis, laboratory findings, or suggestive clinical signs and symptoms, granulomatous diseases may be difficult to differentiate radiologically. Although individual granulomatous diseases may have overlapping findings at imaging, certain radiologic findings should prompt the inclusion of granulomatous diseases in the differential diagnosis, thus facilitating appropriate clinical management. PMID:25208278

  13. [Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature].

    Science.gov (United States)

    Ben Abdallah Chabchoub, R; Turki, H; Mahfoudh, A

    2014-12-01

    The association of chronic granulomatosis disease (CGD) with autoimmune diseases such as lupus has been described but remains rare. K… is a boy born of a consanguineous marriage. In the family history, two brothers had died at a young age. He had been followed up since the age of 6 months for CGD. At 11 years of age, he developed malar rash, cheilitis, oral ulceration, and photosensitivity. Systemic lupus erythematosus (SLE) was confirmed by the presence of high levels of antinuclear antibodies. This observation demonstrates that with the clinical association of recurrent infections and skin lesions the diagnosis of CGD with SLE must be considered. PMID:25445129

  14. Pulmonary aspergillosis as first manifestation of chronic granulomatous disease in enzygotic twins-use of FDG-PET in diagnosing spread of disease; Pulmonale Aspergillose als Erstmanifestation einer septischen Granulomatose (chronic granulomatous disease, CGD) bei eineiigen weiblichen Zwillingsfruehgeborenen und Ausbreitungsdiagnostik mittels FDG-PET

    Energy Technology Data Exchange (ETDEWEB)

    Theobald, I.; Fischbach, R.; Heindel, W. [Muenster Univ. (Germany). Radiologische Klinik und Poliklinik; Huelskamp, G.; Frosch, M.; Roth, J. [Klinik und Poliklinik fuer Kinderheilkunde und Allgemeine Kinderheilkunde des UKM, Muenster (Germany); Franzius, C. [Klinik und Poliklinik fuer Nuklearmedizin des UKM, Muenster (Germany)

    2002-01-01

    Purpose. To present the unusual case of chronic granulomatous disease (CGD) manifestating as pulmonal aspergillosis in female enzygotic twins during the neonatal period. To demonstrate and to discuss the complex diagnosis and the diagnostic value of FDG-PET in monitoring the spread and activity of the disease. Patients. Plain chest X-ray and CT of the lung showed multiple, mostly round lesions in one of the former preterm twins at the age of 8 weeks. The girl with known ASD II was then suffering from dyspnoea and recurrent pulmonary infections. Because of the imaging findings invasive pulmonary aspergillosis due to an underlying immunodeficiency was suspected. Results. Aspergillosis was confirmed histologically and microbiologically by specimens taken from an open lung biopsy. Because of coexisting granulocytic dysfunction the diagnosis of CGD was made. This diagnosis was equally confirmed by noninvasive methods in the asymptomatic sister. FDG-PET did not show any evidence of extrapulmonary spread of disease. Conclusion. CGD can present as isolated pulmonal aspergillosis even in the neonatal period when an immunodeficiency is discussed. In enzygotic twins screening of the asymptomatic twin is mandatory. FDG-PET is a useful tool in screening for spread of the disease and in evaluating disease activity. (orig.) [German] Ziel. Im Rahmen einer Fallbeschreibung wird eine aussergewoehnlich fruehe Erstmanifestation einer septischen Granulomatose (chronic granulomatous disease ''CGD'') als invasive pulmonale Aspergillose in der Neonatalzeit bei eineiigen weiblichen Zwillingen vorgestellt. Zusaetzlich wird auf die komplexe Diagnostik unter besonderem Hinweis des Stellenwerts der FDG-PET zur Ausbreitungsdiagnostik und Aktivitaetsbeurteilung eingegangen. Patienten. Bei dem 8 Wochen alten ehemaligen Fruehgeborenen zeigten Roentgenthoraxbild und CT der Lunge multiple, meist rundliche Lungeninfiltrate. Bei bekanntem ASD lagen Dyspnoe und rezidivierende

  15. Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.

    Science.gov (United States)

    Laugsch, Magdalena; Rostovskaya, Maria; Velychko, Sergiy; Richter, Cornelia; Zimmer, Ariane; Klink, Barbara; Schröck, Evelin; Haase, Michael; Neumann, Katrin; Thieme, Sebastian; Roesler, Joachim; Brenner, Sebastian; Anastassiadis, Konstantinos

    2016-04-01

    Chronic granulomatous disease (CGD) is an inherited immunodeficiency, caused by the inability of neutrophils to produce functional NADPH oxidase required for fighting microbial infections. The X-linked form of CGD (X-CGD), which is due to mutations in the CYBB (gp91phox) gene, a component of NADPH oxidase, accounts for about two-thirds of CGD cases. We derived induced pluripotent stem cells (iPSCs) from X-CGD patient keratinocytes using a Flp recombinase excisable lentiviral reprogramming vector. For restoring gp91phox function, we applied two strategies: transposon-mediated bacterial artificial chromosome (BAC) transgenesis and gene targeting using vectors with a fixed 5' homology arm (HA) of 8 kb and 3'HA varying in size from 30 to 80 kb. High efficiency of homologous recombination (up to 22%) was observed with increased size of the 3'HA. Both, BAC transgenesis and gene targeting resulted in functional restoration of the gp91phox measured by an oxidase activity assay in X-CGD iPSCs differentiated into the myeloid lineage. In conclusion, we delivered an important milestone towards the use of genetically corrected autologous cells for the treatment of X-CGD and monogenic diseases in general. PMID:26316390

  16. Exposure to a Mycobacterial Antigen, ESAT-6, Exacerbates Granulomatous and Fibrotic Changes in a Multiwall Carbon Nanotube Model of Chronic Pulmonary Disease

    Science.gov (United States)

    Malur, Anagha; Barna, Barbara P; Patel, Janki; McPeek, Matthew; Wingard, Christopher J; Dobbs, Larry; Thomassen, Mary Jane

    2016-01-01

    Recent studies suggest additive effects of environmental pollutants and microbial antigens on respiratory disease. We established a granuloma model in which instilled multiwall carbon nanotubes (MWCNT) elicit granulomatous pathology. We hypothesized that mycobacterial antigen ESAT-6, a T cell activator associated with tuberculosis and sarcoidosis, might alter pathology. Wild-type C57Bl/6 mice received MWCNT with or without ESAT-6 peptide. Controls received vehicle (surfactant-PBS) or ESAT-6 alone. Mice were evaluated 60 days later for granulomas, fibrosis, and bronchoalveolar lavage (BAL) cell expression of inflammatory mediators (CCL2, MMP-12, and Osteopontin). Results indicated increased granulomas, fibrosis, and inflammatory mediators in mice receiving the combination of MWCNT+ESAT-6 compared to MWCNT or vehicle alone. ESAT-6 alone showed no significant effect on these pathological endpoints. However, CD3 (+) lymphocyte infiltration of lung tissue increased with MWCNT+ESAT-6 versus MWCNT alone. Findings suggest that concurrent exposure to microbial antigen and MWCNT exacerbates chronic pulmonary disease. PMID:27019768

  17. Restitution of superoxide generation in autosomal cytochrome-negative chronic granulomatous disease (A22(0) CGD)-derived B lymphocyte cell lines by transfection with p22phax cDNA

    OpenAIRE

    1993-01-01

    The respiratory burst oxidase of phagocytes and B lymphocytes is a multicomponent enzyme that catalyzes the one-electron reduction of oxygen by NADPH. It is responsible for the O2-production that occurs when these cells are exposed to phorbol 12-myristate 13-acetate or physiologic stimuli, such as phagocytosis in phagocytes or cross- linking of surface immunoglobulin in B lymphocytes. The activity of this enzyme is greatly diminished or absent in patients with chronic granulomatous disease (C...

  18. Altered pattern of Naïve and memory B cells and B1 cells in patients with chronic granulomatous disease.

    Science.gov (United States)

    Mohsenzadegan, Monireh; Fattahi, Fahimeh; Fattahi, Fatemeh; Mirshafiey, Abbas; Fazlollahi, Mohammad Reza; Naderi Beni, Fariba; Movahedi, Masoud; Pourpak, Zahra

    2014-06-01

    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder characterized by a greatly increased susceptibility to severe fungal and bacterial infections caused by defects in NADPH oxidase of phagocytic cells. We aimed to investigate immunophenotype alterations of naïve and memory B cells and B1a cells in peripheral whole blood from Iranian patients with CGD. Flow cytometric analysis was performed on peripheral blood samples from 31 CGD patients and 23 healthy controls (HC) to study naïve (IgD+/CD27-), memory (CD27+) B and B1a (CD5+) cells. Soluble CD27 (sCD27) and immunoglobulins were also measured by ELISA and the nephelometric method, respectively. We found significantly higher levels of naïve B cells and B1a cells but lower levels of memory B cells in CGD patients compared to HC.. There was no significant difference in soluble CD27 (sCD27) alteration between CGD patients and HC. Our findings suggested a role for NADPH oxidase in process of B cell differentiation and impairing conversion of naïve B cells to memory B cells and altered B1a cells in CGD patients. Increased susceptibility of CGD patients to opportunistic infections and autoimmune disorders could be partly explained by the altered phenotype of B lymphocytes in these patients. PMID:24659119

  19. A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

    Science.gov (United States)

    Ben-Farhat, Khaoula; Ben-Mustapha, Imen; Ben-Ali, Meriem; Rouault, Karen; Hamami, Saber; Mekki, Najla; Ben-Chehida, Amel; Larguèche, Beya; Fitouri, Zohra; Abdelmoula, Selim; Khemiri, Monia; Guediche, Mohamed-Neji; Boukthir, Samir; Barsaoui, Sihem; Chemli, Jalel; Barbouche, Mohamed-Ridha

    2016-08-01

    Chronic granulomatous disease (CGD) is the prototypic functional neutrophil disorder caused by genetic defects in one of the five genes encoding the superoxide-generating nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase subunits of phagocytes. Mutations causing the most prevalent form of CGD in western populations are located in the X-linked-CYBB gene. The four remaining autosomal recessive (AR) forms collectively account for one-third of CGD cases. We investigated the clinical and molecular features of eleven patients with CGD from 6 consanguineous families, originating from contiguous regions in the west of Tunisia. The patients' clinical phenotype is characterized by a high incidence of mycobacterial infections. Five out of the eleven patients died despite treatment arguing in favor of a severe clinical form of CGD. These findings correlated with the absence of functional p67phox protein as well as the absence of residual reactive oxygen intermediates (ROI) production. Genetic analysis showed the presence, in all patients, of a unique mutation (c.257 + 2T > C) in NCF2 gene predicted to affect RNA splicing. Segregating analysis using nine polymorphic markers overlapping the NCF2 gene revealed a common haplotype spanning 4.1 Mb. The founder event responsible for this mutation was estimated to have arisen approximately 175 years ago. These findings will facilitate the implementation of preventive approaches through genetic counseling in affected consanguineous families. PMID:27220316

  20. Altered pattern of Naïve and memory B cells and B1 cells in patients with chronic granulomatous disease.

    Directory of Open Access Journals (Sweden)

    Monireh Mohsenzadegan

    2014-06-01

    Full Text Available Chronic granulomatous disease (CGD is a rare primary immunodeficiency disorder characterized by a greatly increased susceptibility to severe fungal and bacterial infections caused by defects in NADPH oxidase of phagocytic cells. We aimed to investigate immunophenotype alterations of naïve and memory B cells and B1a cells in peripheral whole blood from Iranian patients with CGD. Flow cytometric analysis was performed on peripheral blood samples from 31 CGD patients and 23 healthy controls (HC to study naïve (IgD+/CD27-, memory (CD27+ B and B1a (CD5+ cells. Soluble CD27 (sCD27 and immunoglobulins were also measured by ELISA and the nephelometric method, respectively. We found significantly higher levels of naïve B cells and B1a cells but lower levels of memory B cells in CGD patients compared to HC.. There was no significant difference in soluble CD27 (sCD27 alteration between CGD patients and HC. Our findings suggested a role for NADPH oxidase in process of B cell differentiation and impairing conversion of naïve B cells to memory B cells and altered B1a cells in CGD patients. Increased susceptibility of CGD patients to opportunistic infections and autoimmune disorders could be partly explained by the altered phenotype of B lymphocytes in these patients.

  1. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.

    Science.gov (United States)

    Wolach, Baruch; Scharf, Yitshak; Gavrieli, Ronit; de Boer, Martin; Roos, Dirk

    2005-01-01

    Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91phox, a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme expression of the mutated gene. Here, we report on a woman with a novel mutation in CYBB (CCG[90-92]-->GGT), predicting Tyr30Arg31-->stop, Val in gp91phox, who presented with clinical symptoms at the age of 66. The mutation was present in heterozygous form in genomic DNA from her leukocytes but was fully expressed in mRNA from these cells, indicating that in her leukocytes the X chromosome carrying the nonmutated CYBB allele had been inactivated. Indeed, only 0.4% to 2% of her neutrophils showed NADPH oxidase activity. This extreme skewing of her X-chromosome inactivation was not found in her cheek mucosal cells and is thus not due to a general defect in gene methylation on one X chromosome. Moreover, the CYBB mutation was not present in the DNA from her cheek cells and was barely detectable in the DNA from her memory T lymphocytes. Thus, this patient shows a somatic mosaic for the CYBB mutation, which probably originated during her lifetime in her bone marrow. PMID:15308575

  2. Complications of Tumor Necrosis Factor-± Blockade in Chronic Granulomatous Disease—Related Colitis

    OpenAIRE

    Uzel, Gulbu; Orange, Jordan S.; Poliak, Nina; Marciano, Beatriz E.; Heller, Theo; Holland, Steven M.

    2010-01-01

    Background. Chronic granulomatous disease (CGD) is a genetic disorder of the phagocyte NADPH oxidase, which predisposes patients to infections and inflammatory complications, including severe colitis. Management of CGD colitis is a challenge because standard immunosuppressive therapy increases the risk of infection in already immunocompromised hosts.

  3. Simultaneous Host-Pathogen Transcriptome Analysis during Granulibacter bethesdensis Infection of Neutrophils from Healthy Subjects and Patients with Chronic Granulomatous Disease.

    Science.gov (United States)

    Greenberg, David E; Sturdevant, Daniel E; Marshall-Batty, Kimberly R; Chu, Jessica; Pettinato, Anthony M; Virtaneva, Kimmo; Lane, John; Geller, Bruce L; Porcella, Stephen F; Gallin, John I; Holland, Steven M; Zarember, Kol A

    2015-11-01

    Polymorphonuclear leukocytes (PMN) from patients with chronic granulomatous disease (CGD) fail to produce microbicidal concentrations of reactive oxygen species (ROS) due to mutations in NOX2. Patients with CGD suffer from severe, life-threatening infections and inflammatory complications. Granulibacter bethesdensis is an emerging Gram-negative pathogen in CGD that resists killing by PMN of CGD patients (CGD PMN) and inhibits PMN apoptosis through unknown mechanisms. Microarray analysis was used to study mRNA expression in PMN from healthy subjects (normal PMN) and CGD PMN during incubation with G. bethesdensis and, simultaneously, in G. bethesdensis with normal and CGD PMN. We detected upregulation of antiapoptotic genes (e.g., XIAP and GADD45B) and downregulation of proapoptotic genes (e.g., CASP8 and APAF1) in infected PMN. Transcript and protein levels of inflammation- and immunity-related genes were also altered. Upon interaction with PMN, G. bethesdensis altered the expression of ROS resistance genes in the presence of normal but not CGD PMN. Levels of bacterial stress response genes, including the ClpB gene, increased during phagocytosis by both normal and CGD PMN demonstrating responses to oxygen-independent PMN antimicrobial systems. Antisense knockdown demonstrated that ClpB is dispensable for extracellular growth but is essential for bacterial resistance to both normal and CGD PMN. Metabolic adaptation of Granulibacter growth in PMN included the upregulation of pyruvate dehydrogenase. Pharmacological inhibition of pyruvate dehydrogenase by triphenylbismuthdichloride was lethal to Granulibacter. This study expands knowledge of microbial pathogenesis of Granulibacter in cells from permissive (CGD) and nonpermissive (normal) hosts and identifies potentially druggable microbial factors, such as pyruvate dehydrogenase and ClpB, to help combat this antibiotic-resistant pathogen. PMID:26283340

  4. Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox.

    Directory of Open Access Journals (Sweden)

    Mohsen Badalzadeh

    2012-12-01

    Full Text Available Chronic granulomatous disease (CGD, a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (NADPH-oxidase enzyme. NCF2 gene (encoding P67-phox component is one of them and its mutation is less common to cause CGD (around 5-6%. Here, we assessed mutation analysis of NCF2 in 4 CGD patients with p67-phox defect in Iran.These patients showed classical CGD symptoms. NCF2 sequence analyses revealed two different homozygous mutations including a nonsense mutation in exon 4, c.304C>T (Arg102X in one case and a CA deletion in exon 13 (Leu346fsX380 in one brother and sister;the latter is a new mutation which has not been reported in previous studies.In another patient in whom the attempts to amplify exon 2 individually from genomic DNA  were unsuccessful, PCR amplification of exon 2 revealed no band of this exon on agarose gel. A PCR amplification mix of  exon  2 and exon 7, with an internal control, confirmed the lack of exon 2 in this patient. Although a gross deletion in other exons of NCF2  has been previously reported, a large deletion encompassing exon 2 has been not reported yet. This abstract was also presented in ESID 2012, Florence, Italy.

  5. Relationship of protein phosphorylation to the activation of the respiratory burst in human neutrophils. Defects in the phosphorylation of a group of closely related 48-kDa proteins in two forms of chronic granulomatous disease

    International Nuclear Information System (INIS)

    When 32P-labeled human neutrophils were activated by exposure to phorbol myristate acetate, three 48-kDa proteins (designated pp48/6.8, pp48/7.3, and pp48/7.8, from their isoelectric points) were found to have become labeled. With maximal stimulation, labeling was complete by 30 s. With lesser degrees of stimulation, the extent of labeling at 2 min correlated with rates of production by the phorbol-treated cells. Increased labeling of these 48-kDa proteins was also seen in cells exposed to f-Met-Leu-Phe. In phorbol-treated neutrophils from patients with X-linked cytochrome b558-negative chronic granulomatous disease, pp48/7.8 was labeled in a normal fashion, but pp48/6.8 and pp48/7.3 failed to take up 32P. In cells from patients with autosomal recessive cytochrome b558-positive chronic granulomatous disease, however, none of the three proteins took up 32P in response to phorbol. The three proteins appear to be very closely related, as indicated by the findings that phosphoserine was the only phosphoamino acid found in any of the three, and all three yielded identical one-dimensional phosphopeptide maps after digestion with either chymotrypsin or staphylococcal proteinase V8. These results reconcile earlier observations on protein phosphorylation in chronic granulomatous disease and provide further evidence for a relationship between the phosphorylation of this group of 48-kDa proteins and the activation of the respiratory burst oxidase

  6. Relationship of protein phosphorylation to the activation of the respiratory burst in human neutrophils. Defects in the phosphorylation of a group of closely related 48-kDa proteins in two forms of chronic granulomatous disease

    Energy Technology Data Exchange (ETDEWEB)

    Okamura, N.; Curnutte, J.T.; Roberts, R.L.; Babior, B.M.

    1988-05-15

    When 32P-labeled human neutrophils were activated by exposure to phorbol myristate acetate, three 48-kDa proteins (designated pp48/6.8, pp48/7.3, and pp48/7.8, from their isoelectric points) were found to have become labeled. With maximal stimulation, labeling was complete by 30 s. With lesser degrees of stimulation, the extent of labeling at 2 min correlated with rates of production by the phorbol-treated cells. Increased labeling of these 48-kDa proteins was also seen in cells exposed to f-Met-Leu-Phe. In phorbol-treated neutrophils from patients with X-linked cytochrome b558-negative chronic granulomatous disease, pp48/7.8 was labeled in a normal fashion, but pp48/6.8 and pp48/7.3 failed to take up 32P. In cells from patients with autosomal recessive cytochrome b558-positive chronic granulomatous disease, however, none of the three proteins took up 32P in response to phorbol. The three proteins appear to be very closely related, as indicated by the findings that phosphoserine was the only phosphoamino acid found in any of the three, and all three yielded identical one-dimensional phosphopeptide maps after digestion with either chymotrypsin or staphylococcal proteinase V8. These results reconcile earlier observations on protein phosphorylation in chronic granulomatous disease and provide further evidence for a relationship between the phosphorylation of this group of 48-kDa proteins and the activation of the respiratory burst oxidase.

  7. Gene therapy in chronic granulomatous disease Importancia de la terapia génica en la enfermedad granulomatosa crónica

    Directory of Open Access Journals (Sweden)

    Andrés Augusto Arias Sierra

    2005-03-01

    Full Text Available Reactive oxygen species (ROS production by phagocytes is an important mechanism to kill invading microorganisms. Neutrophils from individuals with chronic granulomatous disease (CGD do not produce ROS, thereby rendering these individuals more susceptible to infection. CGD results from mutations in the genes encoding essential subunits of respiratory burst NADPH oxidase, the enzyme complex necessary for the production of these reactive molecules. The absence of phagocyte ROS results in recurrent fungal and bacterial infections and inflammatory granulomas, associated with significant morbidity and mortality. Currently, the curative treatment is the allogenic bone marrow transplant (BMT; nevertheless, this therapy has some disadvantages including the HLA incompatibility, the immunosupression due to the myeloablative conditions necessary for the transplant and the high risk to develop graft vs. host disease. As an alternative to BMT the ex vivo gene therapy in hematopoietic stem cells has been intensely studied. Although this option could be the most appropriate treatment, it can give rise to other kinds of adverse effects. The genetic features of CGD have made it a very attractive candidate to be cured with gene therapy. This review summarizes and discusses the current advances about gene therapy and its application to CGD. El sistema NADPH oxidasa de las células fagocíticas es un complejo enzimático encargado de producir anión superóxido durante la respuesta contra los microorganismos. Mutaciones en los genes que codifican para las proteínas de este sistema son responsables de la Enfermedad Granulomatosa Crónica (EGC que es una inmunodeficiencia primaria caracterizada por la presencia de infecciones recurrentes debidas a un grupo específico de microorganismos, principalmente oportunistas. Actualmente el tratamiento para la mayoría de los pacientes con EGC está dirigido a la prevención o al control de los procesos infecciosos, pero no a

  8. Virulence and Cellular Interactions of Burkholderia multivorans in Chronic Granulomatous Disease▿

    OpenAIRE

    Zelazny, Adrian M.; Ding, Li; Elloumi, Houda Z.; Brinster, Lauren R; Benedetti, Fran; Czapiga, Meggan; Ulrich, Ricky L.; Ballentine, Samuel J.; Goldberg, Joanna B.; Sampaio, Elizabeth P.; Holland, Steven M.

    2009-01-01

    Chronic granulomatous disease (CGD) patients are susceptible to life-threatening infections by the Burkholderia cepacia complex. We used leukocytes from CGD and healthy donors and compared cell association, invasion, and cytokine induction by Burkholderia multivorans strains. A CGD isolate, CGD1, showed higher cell association than that of an environmental isolate, Env1, which correlated with cell entry. All B. multivorans strains associated significantly more with cells from CGD patients tha...

  9. Medical and Surgical Treatment of Idiopathic Granulomatous Lobular Mastitis: A Benign Inflammatory Disease Mimicking Invasive Carcinoma

    OpenAIRE

    Gurleyik, Gunay; Aktekin, Ali; Aker, Fugen; Karagulle, Hikmet; Saglamc, Abdullah

    2012-01-01

    Purpose Idiopathic granulomatous lobular mastitis (IGLM) is a rare chronic inflammatory disease of the breast with obscure etiology that mimics invasive carcinoma both clinically and radiologically. The treatment of IGLM remains controversial. The aim of proper management is to use a combination of medical and surgical treatment of this benign condition to achieve a good cosmetic result and low recurrence rate. Methods A retrospective analysis of 19 patients with IGLM is performed based on th...

  10. Idiopathic Granulomatous Mastitis: An Autoimmune Disease?

    Directory of Open Access Journals (Sweden)

    Fatih Altintoprak

    2013-01-01

    Full Text Available Purpose. This study aimed to investigate the autoimmune basis of idiopathic granulomatous mastitis (IGM by determining the anti-nuclear antibody (ANA and extractable nuclear antigen (ENA levels of patients diagnosed with IGM. Material and Methods. Twenty-six IGM patients were evaluated. Serum samples were analyzed for autoantibodies by indirect immunofluorescence (IIF using a substrate kit that induced fluorescein-conjugated goat antibodies to human immunoglobulin G (IgG. IIF patterns were read at serum dilutions of 1 : 40 and 1 : 100 for ANA positivity. Using the immunoblot technique, the sera of patients were assayed at dilutions of 1 : 40 and 1 : 100 for human autoantibodies of the IgG class to 15 lines of highly purified ENAs. Results. In the IIF studies for ANA, positivity was identified for four different patterns in the 1 : 40 diluted preparations, for three different patients in the 1 : 100 diluted preparations and only one pattern was identified at the 1 : 320 dilution. In the ENA studies, positivity was identified for four different pattern in the 1 : 40 dilution, and only one pattern was identified at the 1 : 100 dilution. Conclusion. This study was not able to support the eventual existence of an autoimmune basis for IGM.

  11. Doença granulomatosa crônica: diagnóstico no primeiro episódio infeccioso Chronic granulomatous disease: diagnosis on the first infection episode

    Directory of Open Access Journals (Sweden)

    Luís Roberto C. M. Bonilha

    2010-09-01

    Full Text Available OBJETIVO: Relatar caso ilustrativo de doença granulomatosa crônica cujo diagnóstico ocorreu durante o aparecimento do primeiro episódio infeccioso, colaborando com a iniciativa do Brazilian Group for Immunodeficiency para a sensibilização do pediatra geral em relação ao diagnóstico precoce das imunodeficiências primárias, o que está associado a melhor qualidade de vida e maior sobrevida desses indivíduos. DESCRIÇÃO DE CASO: Paciente do sexo masculino, 39 dias de vida, admitido em pronto-socorro pediátrico por febre alta há cinco dias e irritabilidade. No dia seguinte, observou-se abscesso cervical, isolando-se Staphylococcus aureus comunitário. Durante a internação, ocorreram outros abscessos superficiais e em cadeias ganglionares profundas, além de resposta lenta aos antimicrobianos. Solicitou-se investigação para imunodeficiências, que confirmou a hipótese de doença granulomatosa crônica por quantificação dos ânions superóxido e teste de redução do nitrobluetetrazolio. Paciente foi encaminhado a serviço especializado, no qual identificou-se doador de medula óssea compatível, realizando-se o transplante seis meses após o diagnóstico. Quatro meses após o transplante, ocorreu normalização do burst oxidativo, indicando sucesso. COMENTÁRIOS: O paciente mostrou apresentação típica da doença, o que permitiu seu diagnóstico por pediatras gerais já na primeira infecção, tendo como consequência o acompanhamento por especialistas em imunodeficiências primárias, a introdução da profilaxia antimicrobiana e a procura bem sucedida de doador de medula HLA-compatível.OBJECTIVE: To report a case of chronic granulomatous disease diagnosed during the first infectious episode in order to collaborate with the Brazilian Group for Immunodeficiency, in sensitizing the general pediatrician that the early diagnosis of primary immunodeficiency results in better quality of life and longer life expectancy for the

  12. Chest radiographs in acquired antibody deficiency syndrome with chronic granulomatous inflammation

    International Nuclear Information System (INIS)

    Ten cases of acquired antibody deficiency syndrome with chronic granulomatous infection were diagnosed in our hospital during the past 10 years. We were able to perform a retrospective analysis of the initial and follow-up chest radiographs in 8 of these patients. The following pathological findings could be demonstrated: 1. increased bronchovascular markings in the basal lung fields, 2. reticular densities in the middle and basal lung fields, 3. confluent nodular densities of varying size in the periphery of the basal and middle fields, 4. pulmonary infiltrates in the middle and lower lobes, 5. hilar node enlargement of moderate extent. Findings 2, 3 and 5 completely disappeared under steroid therapy whereas 1 showed only partial recovery. If both the radiologic and serologic findings are considered, it is possible to differentiate this disease from sarcoidosis. (orig.)

  13. Successful use of extracorporeal membrane oxygenation for acute respiratory failure in a patient with chronic granulomatous disease☆, ☆☆, ★

    OpenAIRE

    Madden, Jesse L; Schober, Michelle E; Meyers, Rebecka L.; Bratton, Susan L.; Holland, Steven M.; Hill, Harry R; Rollins, Michael D

    2012-01-01

    A 9-year-old boy presented with pneumonia, bilateral pulmonary lesions, and fulminant respiratory failure requiring support with extracorporeal membrane oxygenation (ECMO). Open lung biopsy and subsequent bronchoscopy identified Nocardia cyriacigeorgica and Burkholderia cepacia pneumonia. Chronic granulomatous disease (CGD) was diagnosed by an abnormal neutrophil oxidative burst assay. An aggressive diagnostic and therapeutic strategy, which included ECMO, allowed for patient survival and ret...

  14. Chronic granulomatous disease: the European experience

    DEFF Research Database (Denmark)

    van den Berg, J Merlijn; van Koppen, Elsbeth; Ahlin, Anders;

    2009-01-01

    CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocytosed m...... the clinical course of CGD in Europe and hopefully can help to increase awareness and optimize the treatment of these patients....

  15. Therapeutic effect of aegiceras corniculatum in chronic granulomatous inflammation and arthritis

    International Nuclear Information System (INIS)

    Chronic inflammation is a result of long lasting of acute inflammation, if not treated or resolved, this condition is a cause of many inflammatory and autoimmune diseases. Aegiceras corniculatum a mangrove plant has been using for many years for the treatment of many inflammatory and autoimmune diseases like atherosclerosis, rheumatoid arthritis, asthma and is well known as a folklore medicine constituting various novel chemical constituents. Methodology: Methanol and ethyl acetate extracts derived from A. corniculatum were evaluated against chronic inflammation by using cotton pellet induced granuloma and Adjuvant induced arthritis models in rats. Vascular permeability and leukocyte migration were studied in the presence of extracts. Results: In cotton pellet granuloma, both the methanol and ethanol extracts were found to highly effective in reducing granulomatous tissue formation in a dose dependent manner. These extracts also suppressed the paw thickness induced by using adjuvant in rat arthritis model, at maximum oral dose of 50 mg/kg methanol extract inhibited swelling in paw by 67%, whereas ethyl acetate extract caused 75% of inhibition in paw swelling at 200 mg/kg. Additionally, ethyl acetate extract has shown inhibition in leukocytes migration (63% at 50 mg/kg) against LTB4 and carrageenan. However, methanol extract failed to produce inhibitory effect against cell infiltration induced by LTB4. Interestingly, methanol and ethyl acetate extract has shown remarkable reduction in the acetic acid induced vascular permeability. Conclusion: A. corniculatum extracts has shown remarkable effect as an anti-arthritic and anti-inflammatory agent to combat with chronic inflammatory diseases, this study provides significant justification for its folklore medical use against rheumatism interfering with inflammatory and cellular immune responses. (author)

  16. A novel insight into the immunologic basis of chronic granulomatous invasive fungal rhinosinusitis

    Science.gov (United States)

    Rae, William; Doffinger, Rainer; Shelton, Fenella; Sproson, Eleanor; Ismail-Koch, Hasnaa; Lund, Valerie J.; Harries, Philip G.; Eren, Efrem

    2016-01-01

    Background: Chronic granulomatous invasive fungal rhinosinusitis (CGIFRS) is a rare disease. The underlying immune responses that drive the development of CGIFRS, as opposed to successful pathogen clearance and controlled inflammation, are not currently known. Objective: To characterize the immune responses associated with CGIFRS. Methods: In addition to a battery of basic investigations, more in-depth immunologic testing involves ex vivo whole-blood stimulation with the polyclonal T-cell mitogen phytohemagglutinin and fungal antigens with interleukin (IL) 12, was undertaken to investigate cell-mediated immune responses associated with CGIFRS. Results: Ex vivo whole-blood stimulation with the polyclonal T-cell mitogen phytohemagglutinin and fungal antigens with IL-12 identified reduced interferon gamma and increased IL-17A levels within the supernatant, which indicated increased in vivo T-helper (Th)17 responses and impaired Th1 responses compared with healthy controls. Conclusion: These findings suggest that the development of CGIFRS may be associated with an abnormally exaggerated host Th17 response, which caused failure to clear the fungal pathogen with refractory fungal infection of mucosal membranes, resulting in chronic tissue inflammation.

  17. Hypertrophic osteopathy associated with systemic granulomatous disease in a horse

    Directory of Open Access Journals (Sweden)

    Liomara Andressa do Amaral Kwirant

    2016-04-01

    Full Text Available A 4-year-old Criollo stallion was presented at the equine clinic of veterinary hospital of the Federal University of Santa Maria, RS, with a 30-day history of progressive weight loss, anemia and swelling of the forelimbs and face. Physical examination revealed that the swelling was firm and had a bone-like consistency, also radiographs showed extensive periosteal proliferation on the forelimb long bones that suggested hypertrophic osteopathy (Marie´s disease. Physical examinations identified no respiratory findings. However, during ultrasound examination, superficial lung disease was identified. The animal was treated with antibiotics and nonsteroidal anti-inflammatory drugs for 12 days. Due to a complete lack of response to this treatment, the horse was euthanized. At necropsy several granulomatous lesions were identified in the thorax, abdomen and testicular tunics. Bony proliferation was evident on many bones of the appendicular skeleton and face. Based on these findings the diagnosis of hypertrophic osteopathy associated with sarcoidosis was established. It is important to perform a thorough clinical examination and include hypertrophic osteopathy in the differential diagnosis of diseases that are accompanied by swelling of the face and limbs as edema from various causes, fibrous osteodystrophy, for example. Key words: Pulmonary. Periosteal. Sarcoidosis. Pathology

  18. Granulomatous interstitial nephritis secondary to chronic lymphocytic leukemia/small lymphocytic lymphoma.

    Science.gov (United States)

    Nasr, Samih H; Shanafelt, Tait D; Hanson, Curtis A; Fidler, Mary E; Cornell, Lynn D; Sethi, Sanjeev; Chaffee, Kari G; Morris, Joseph; Leung, Nelson

    2015-06-01

    Granulomatous interstitial nephritis (GIN) is an uncommon pathologic lesion encountered in 0.5% to 5.9% of renal biopsies. Drugs, sarcoidosis, and infections are responsible for most cases of GIN. Malignancy is not an established cause of GIN. Here, we report a series of 5 patients with GIN secondary to chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Patients were mostly elderly white males with an established history of CLL/SLL who presented with severe renal impairment (median peak serum creatinine, 7.3 mg/dL), leukocyturia, and mild proteinuria. One had nephromegaly. In 2 patients, the development and relapse of renal insufficiency closely paralleled the level of lymphocytosis. Kidney biopsy in all patients showed GIN concomitant with CLL/SLL leukemic interstitial infiltration. Granulomas were nonnecrotizing and epithelioid and were associated with giant cells. One biopsy showed granulomatous arteritis. One patient had a granulomatous reaction in lymph nodes and skin. Steroids with/without CLL/SLL-directed chemotherapy led to partial improvement of kidney function in all patients except 1 who had advanced cortical scarring on biopsy. In conclusion, we report an association between CLL/SLL and GIN. Patients typically present with severe renal failure due to both GIN and leukemic interstitial infiltration, which tends to respond to steroids with/without CLL/SLL-directed chemotherapy. The pathogenesis of GIN in this clinical setting is unknown but may represent a local hypersensitivity reaction to the CLL/SLL tumor cells. PMID:25795422

  19. Molecular characterization in patients with chronic granulomatous disease due to p47phox deficiency Caracterización molecular en pacientes con enfermedad granulomatosa crónica por deficiencia en p47 phox

    Directory of Open Access Journals (Sweden)

    Diana García de Olarte

    1998-01-01

    Full Text Available NADPH oxidase system is an enzymatic electron transport complex localized in the membrane of phagocytic cells. Several proteins belong to this system: A flavocytochrome b558, formed by a b chain (gp91.phox and an a chain (p22.phox and, at least, 3 cytosolic proteins (p47.phox, p67.phox and p40 phox. Genetic alteration in any of these proteins causes the syndrome of Chronic Granulomatous Disease (CGD. Characterization of mutations in patients with CGD has been fundamental to elucidate the structure and function of NADPH oxidase system ComponentS. Several findings make p47.phoX an interesting model to study the molecular mechanism involved in regulating the expreSSion and bioChemical function ofthis system. So far, in patients with p47.phoX defect a deletion of dinucleotide GT has been foUnd at the beginning of exon 2; most of them are homocygotic for this deletion which is probably due to recombinant events between normal p47.phoX gen and a recently described pseudogen. Any mutation found when diagnosing non.homocygotic patients (gDNA or cDNA may represent a pseudogen change. Therefore, for precise identification of the genetic defect it is necessary to separate the normal gen from the pseudogen and to analyze individual sequences. Non.homocygotic patients posibly have a second mutation in the wild type allele different fron GT deletion. On the other hand, through site. oriented mutagenesis it is posible to modify some of the aminoacids or domains of p47.phoX, which may be essential for its function and relationship with CGD. With this method010gy it is possible to introduce changes in a gen whoSe sequence is thoroughly known and which is amplified; mutants So generated can give information concerning the structure and function of the analyzed genes, observing their effect on function. In this way the importance of a structural change on the function of a protein can be determined. El sistema NAOPH oxidasa es un complejo enzimático transportador

  20. Chronic obstructive pulmonary disease

    Science.gov (United States)

    ... airways disease; Chronic obstructive lung disease; Chronic bronchitis; Emphysema; Bronchitis - chronic ... a protein called alpha-1 antitrypsin can develop emphysema. Other risk factors for COPD are: Exposure to ...

  1. Generation of functional neutrophils from a mouse model of X-linked chronic granulomatous disorder using induced pluripotent stem cells.

    Directory of Open Access Journals (Sweden)

    Sayandip Mukherjee

    Full Text Available Murine models of human genetic disorders provide a valuable tool for investigating the scope for application of induced pluripotent stem cells (iPSC. Here we present a proof-of-concept study to demonstrate generation of iPSC from a mouse model of X-linked chronic granulomatous disease (X-CGD, and their successful differentiation into haematopoietic progenitors of the myeloid lineage. We further demonstrate that additive gene transfer using lentiviral vectors encoding gp91(phox is capable of restoring NADPH-oxidase activity in mature neutrophils derived from X-CGD iPSC. In the longer term, correction of iPSC from human patients with CGD has therapeutic potential not only through generation of transplantable haematopoietic stem cells, but also through production of large numbers of autologous functional neutrophils.

  2. Idiopathic CD4(+) T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

    NARCIS (Netherlands)

    T.W. Kuijpers; H. IJspeert; E.M.M. van Leeuwen; M.H. Jansen; M.D. Hazenberg; K.C. Weijer; R.A.W. van Lier; M. van der Burg

    2011-01-01

    A girl presented during childhood with a single course of extensive chickenpox and moderate albeit recurrent pneumonia in the presence of idiopathic CD4(+) T lymphocytopenia (ICL). Her clinical condition remained stable over the past 10 years without infections, any granulomatous disease, or autoimm

  3. Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

    NARCIS (Netherlands)

    T.W. Kuijpers (Taco W.); H. IJspeert (Hanna); E.M.M. van Leeuwen (Ester); M.H. Jansen (Machiel H.); M.D. Hazenberg (Mette D.); K. Weijer (Kees); R.A.W. Van Lier (Rene A. W.); M. van der Burg (Mirjam)

    2011-01-01

    textabstractA girl presented during childhood with a single course of extensive chickenpox and moderate albeit recurrent pneumonia in the presence of idiopathic CD4+T lymphocytopenia (ICL). Her clinical condition remained stable over the past 10 years without infections, any granulomatous disease, o

  4. "Chronic Lyme Disease"

    Science.gov (United States)

    ... Content Marketing Share this: Main Content Area "Chronic Lyme Disease" What is "chronic Lyme disease?" Lyme disease is an infection caused by ... J Med 357:1422-30, 2008). How is Lyme disease treated? For early Lyme disease, a short ...

  5. Suppurative necrotizing granulomatous lymphadenitis in adult-onset Still’s disease: a case report

    Directory of Open Access Journals (Sweden)

    Assimakopoulos Stelios F

    2012-10-01

    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.

  6. The HRCT appearances of granulomatous pulmonary disease in common variable immune deficiency

    International Nuclear Information System (INIS)

    Approximately 10% of patients with common variable immune deficiency have systemic granulomatous disease with associated interstitial lung disease. From a population of patients with CVID attending a large tertiary referral clinic for primary immunodeficiency diseases we selected a cohort who had a restrictive defect or impaired gas transfer on pulmonary function testing and/or histologically proven granulomatous disease. HRCT scans of the thorax were reviewed retrospectively in 18 patients by two radiologists. Thirteen patients had diffuse reticulation, which varied from fine to coarse with features of fibrosis. Nodules were found in eight patients. In seven, these were associated with reticulation and in one they were an isolated finding. Bronchiectasis was found as the only abnormality in three and in addition to diffuse reticulation or nodules in another three patients. Greater appreciation of the spectrum of the radiological abnormalities in CVID patients with interstitial lung disease is important. Deteriorating lung function in patients with granulomatous CVID may be secondary to interstitial lung disease rather than bronchiectasis, and treatment should be tailored accordingly

  7. The HRCT appearances of granulomatous pulmonary disease in common variable immune deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Park, J.E.S. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom); Beal, I. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom); Dilworth, J.P. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom); Tormey, V. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom); Haddock, J. [Royal Free and Hampstead NHS Trust, Pond Street, London NW3 2QG (United Kingdom)]. E-mail: jamandahaddock@royalfree.nhs.uk

    2005-06-01

    Approximately 10% of patients with common variable immune deficiency have systemic granulomatous disease with associated interstitial lung disease. From a population of patients with CVID attending a large tertiary referral clinic for primary immunodeficiency diseases we selected a cohort who had a restrictive defect or impaired gas transfer on pulmonary function testing and/or histologically proven granulomatous disease. HRCT scans of the thorax were reviewed retrospectively in 18 patients by two radiologists. Thirteen patients had diffuse reticulation, which varied from fine to coarse with features of fibrosis. Nodules were found in eight patients. In seven, these were associated with reticulation and in one they were an isolated finding. Bronchiectasis was found as the only abnormality in three and in addition to diffuse reticulation or nodules in another three patients. Greater appreciation of the spectrum of the radiological abnormalities in CVID patients with interstitial lung disease is important. Deteriorating lung function in patients with granulomatous CVID may be secondary to interstitial lung disease rather than bronchiectasis, and treatment should be tailored accordingly.

  8. Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

    OpenAIRE

    Kuijpers, Taco W.; IJspeert, Hanna; Leeuwen, Ester; Jansen, Machiel H.; Mette D Hazenberg; Weijer, Kees; Van Lier, Rene A. W.; van der Burg, Mirjam

    2011-01-01

    textabstractA girl presented during childhood with a single course of extensive chickenpox and moderate albeit recurrent pneumonia in the presence of idiopathic CD4+T lymphocytopenia (ICL). Her clinical condition remained stable over the past 10 years without infections, any granulomatous disease, or autoimmunity. Immunophenotyping demonstrated strongly reduced naive T and B cells with intact proliferative capacity. Antibody reactivity on in vivo immunizations was normal. T-cell receptor-Vβ r...

  9. Interstitial granulomatous pulmonary diseases: a diagnostic approach for the general pathologist

    Directory of Open Access Journals (Sweden)

    Silva Aloísio S. Felipe da

    2003-01-01

    Full Text Available Some kinds of interstitial pneumonia present a histopathological pattern dominated by sarcoid - necrotizing or non-necrotizing - granulomas, which can be divided into two main groups: infectious and non-infectious. The infectious causes include tuberculosis, histoplasmosis, fungi in general, paracoccidioidomycosis, ascaridiasis, echinococcosis and dirophilariosis. The non-infectious causes include histiocytosis-X, hipersensitivity pneumonia, vasculitis, lymphomas, sarcoidosis, and pneumoconioses such as silicosis and berylliosis. The purpose of this review is to provide a practical guideline to enable general pathologists to make the differential diagnosis of granulomatous pulmonary diseases. For this purpose, anatomical-clinical-radiological correlations will be presented and targeted to each diagnosis discussed. Whenever a granulomatous inflammatory process is in progress, the search for infective agents by direct observation, by culture, and by histochemical methods should be mandatory. The histological aspects of infectious granulomas to be analyzed should include their random histo-anatomical location, the type of inflammatory reaction, and necrosis. A panel of complementary reactions (immunohistochemistry and PCR should identify the infectious agent and, whenever their results and the culture are negative, the possibility of non-infectious granulomatous diseases has to be evaluated. In such cases, the histo-anatomical distribution (bronchocentric, lymphangitic, angiocentric, random, the qualitative characteristics of the lesions (type of necrosis and inflammatory reaction, and the correlation with the X-ray findings will help the diagnosis.

  10. Hypertrophic osteopathy associated with systemic granulomatous disease in a horse

    OpenAIRE

    Liomara Andressa do Amaral Kwirant; Flavio Desessards De La Côrte; Karin Erica Brass; Cláudio Severo Lombardo de Barros; Ricardo Barbosa Lucena; Maria Elisa Trost; Rafael Costa Ebling; Mariana Cocco

    2016-01-01

    A 4-year-old Criollo stallion was presented at the equine clinic of veterinary hospital of the Federal University of Santa Maria, RS, with a 30-day history of progressive weight loss, anemia and swelling of the forelimbs and face. Physical examination revealed that the swelling was firm and had a bone-like consistency, also radiographs showed extensive periosteal proliferation on the forelimb long bones that suggested hypertrophic osteopathy (Marie´s disease). Physical examinations identified...

  11. Differential Diagnosis in Idiopathic Granulomatous Mastitis and Tuberculous Mastitis

    OpenAIRE

    Seo, Hee Ri Na; Na, Kuk Young; Yim, Hyun Ee; Kim, Tae Hee; Kang, Doo Kyoung; Oh, Ki Keun; Kang, Seok Yun; An, Young-Sil; Chun, Mison; Kim, Woojae; Park, Rae Woong; Jung, Yong Sik; Kim, Ku Sang

    2012-01-01

    Purpose Idiopathic granulomatous mastitis (IGM) is a rare chronic inflammatory disease of unknown etiology. The diagnosis of IGM requires that other granulomatous lesions in the breast be excluded. Tuberculous mastitis (TM) is also an uncommon disease that is often difficult to differentiate from IGM. The purpose of this study is to develop a new algorithm for the differential diagnosis and treatment of IGM and TM. Methods Medical records of 68 patients (58 with IGM and 10 with TM) between Ju...

  12. The natural history of beryllium sensitization and chronic beryllium disease.

    OpenAIRE

    Newman, L. S.; Lloyd, J.; Daniloff, E.

    1996-01-01

    With the advent of in vitro immunologic testing, we can now detect exposed individuals who are sensitized to beryllium and those who have chronic beryllium disease (CBD) with lung pathology and impairment. Earlier detection and more accurate diagnostic tools raise new questions about the natural history of sensitization and granulomatous disease. Preliminary data suggest that early detection identifies people who are sensitized to beryllium and that these individuals are at risk for progressi...

  13. Is it Crohn's disease? A severe systemic granulomatous reaction to sulfasalazine in patient with rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    Haftel Hilary M

    2001-08-01

    Full Text Available Abstract Background Sulfasalazine is a widely used anti-inflammatory agent in the treatment of inflammatory bowel disease and several rheumatological disorders. Although as many as 20% of treated patients may experience reversible, dose-dependent side effects, less frequent but potentially severe, systemic reactions have also been reported. Case Presentation A severe systemic reaction to sulfasalazine developed in a 21-year old female with rheumatoid arthritis characterized by eosinophilia, granulomatous enteritis and myelotoxicity, cholestatic hepatitis, and seizures. The clinical course and management of this patient are presented as well as a review of the incidence and outcome of severe systemic reactions to sulfasalazine. Conclusions Granulomatous myelotoxicity and enteritis developed in a 21 year old female within 3 weeks of initiating sulfasalazine for rheumatoid arthritis. Following a short course of corticosteroids, the patient had resolution of her cholestatic hepatitis, rash, eosinophilia, and gastrointestinal symptoms with no residual manifestations at 7 months follow-up. Although severe reactions to sulfasalazine are rare and unpredictable, practicing physicians should be aware of unusual clinical presentations of toxicity when prescribing sulfasalazine.

  14. Management of granulomatous lymphocytic interstitial lung disease in a patient with common variable immune deficiency.

    Science.gov (United States)

    Pathria, Mohini; Urbine, Daniel; Zumberg, Marc Stuart; Guarderas, Juan

    2016-01-01

    A 61-year-old woman presented with longstanding cough and progressive dyspnoea. She underwent an extensive evaluation and was diagnosed with common variable immunodeficiency (CVID) with granulomatous lymphocytic interstitial lung disease (GLILD). She was initially treated with subcutaneous immunoglobulin therapy, having declined intravenous immunoglobulin (IVIG) therapy. She also declined treatment with oral glucocorticoids. Over several months, she became increasingly symptomatic and developed increased pulmonary infiltrates, pleural effusions, mediastinal adenopathy, splenomegaly, pancytopenia and ascites. An interdisciplinary team composed of an immunologist, pulmonologist and haematologist deliberated over a therapeutic management approach. The patient received a recently reported immunotherapy regimen with azathioprine and rituximab. The therapy led to rapid improvement of her constitutional and respiratory symptoms, with clinical and radiographic improvement in her interstitial lung disease, lymphadenopathy, pleural effusions and ascites. This case report reviews the literature surrounding the diagnosis and management of GLILD. PMID:27335365

  15. Chronic diseases in adolescence

    OpenAIRE

    Rončević Nevenka; Stojadinović Aleksandra; Odri Irena

    2006-01-01

    Introduction. The prevalence of chronic diseases in adolescence is constantly increasing, especially in the last two decades. Adolescence is a period of important changes: body growth and development, sexual development, development of cognitive abilities, change in family relations and between peers, formation of personal identity and personal system of values, making decisions on future occupation etc. Chronic diseases in adolescence. Chronic disorders affect all development issues and repr...

  16. Prenatal diagnosis of chronic granulomatous disease in a male fetus

    OpenAIRE

    2009-01-01

    Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD) is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR) CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results. In a family whose first-born child died from X-CGD, fetal DNA was obtained from an ongoing pregnancy by c...

  17. Prenatal diagnosis of chronic granulomatous disease in a male fetus

    NARCIS (Netherlands)

    M.Y. Köker; A. Metin; T.T. Özgür; M. de Boer; D. Roos

    2009-01-01

    Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD) is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR) CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecula

  18. Chronic diseases in adolescence

    Directory of Open Access Journals (Sweden)

    Rončević Nevenka

    2006-01-01

    Full Text Available Introduction. The prevalence of chronic diseases in adolescence is constantly increasing, especially in the last two decades. Adolescence is a period of important changes: body growth and development, sexual development, development of cognitive abilities, change in family relations and between peers, formation of personal identity and personal system of values, making decisions on future occupation etc. Chronic diseases in adolescence. Chronic disorders affect all development issues and represent an additional burden for adolescents. The interaction between chronic disorders and various development issues is complex and two-way: the disease may affect development, and development may affect the disease. Developmental, psychosocial and family factors are of great importance in the treatment of adolescents with chronic disorders. Chronic disorders affect all aspects of adolescent life, including relations with peers, school, nutrition, learning, traveling, entertainment, choice of occupation, plans for the future. Physicians should keep in mind that chronic diseases and their treatment represent only one aspect of person's life. Adolescents with chronic diseases have other needs as well, personal priorities, social roles and they expect these needs to be recognized and respected. Adolescent health care should be adjusted to the life style of adolescents.

  19. Chronic obstructive pulmonary disease

    OpenAIRE

    NR Anthonisen

    2007-01-01

    The global prevalence of physiologically defined chronic obstructive pulmonary disease (COPD) in adults aged >40 yr is approximately 9-10 per cent. Recently, the Indian Study on Epidemiology of Asthma, Respiratory Symptoms and Chronic Bronchitis in Adults had shown that the overall prevalence of chronic bronchitis in adults >35 yr is 3.49 per cent. The development of COPD is multifactorial and the risk factors of COPD include genetic and environmental factors. Pathological changes in COPD are...

  20. Anemia of chronic disease

    Science.gov (United States)

    Anemia of inflammation; AOCD; ACD ... Anemia is a lower-than-normal number of red blood cells in the blood. Some conditions can lead to anemia of chronic disease include: Autoimmune disorders , such as ...

  1. Sleep and Chronic Disease

    Science.gov (United States)

    ... message, please visit this page: About CDC.gov . Sleep About Us About Sleep Key Sleep Disorders Sleep ... Sheets Data & Statistics Projects and Partners Resources Events Sleep and Chronic Disease Recommend on Facebook Tweet Share ...

  2. The case of fulminant granulomatous myocarditis

    Directory of Open Access Journals (Sweden)

    Hritsyna I.V.

    2014-03-01

    Full Text Available Background. Granulomatous myocarditis is one of the mysterious diseases: it occurs extremely rare, clinical signs and symptoms are often absent, it manifested suddenly, unexpectedly by symptoms of acute heart failure, cardiogenic shock or ventricular arrhythmia, usually finished fatally for a short period of time. The etiology and pathogenesis of this disease are unknown. Objective. The purpose of the investigation is to show the clinical course and pathological features of granulomatous myocarditis and its clinical-morphological correlations. Methods. The clinical course and anamnesis of the case were retrospectively analyzed. The data of the postmortem examination was examined in details. Results. We presented a case of idiopathic granulomatous myocarditis with fulminant onset and fatal outcome in 54-year-old man. The disease began suddenly with signs of cardiogenic shock, which was regarded as the debut of myocardial infarction. Despite the intensive care, open chest cardiac massage and artificial circulation patient died soon. Autopsy revealed extensive granulomatous myocarditis with involvement of all parts of the heart, interstitial sclerosis and left ventricle hypertrophy. Antemortal clinical signs of the disease were not observed. Conclusion. Sudden unexpected debut with hyperacute progression and rapid death in previously completely health middle-aged man are typical characteristics of this disease. Multiple foci of substitutive myocardial sclerosis are results of healed granulomas and evidences of chronic course of the disease. It remains unclear why preexisting granulomas had never manifested in the past. Extension and degree of myocardium injury does not coincide with fulminant course of the disease. The cause of the myocarditis as well as the factor which provoked exacerbation of the disease remained uncertain. Citation: Hritsyna IV. [The case of fulminant granulomatous myocarditis]. Morphologia. 2014;8(1:35-9. Ukrainian.

  3. Chronic inflammatory systemic diseases

    OpenAIRE

    Straub, Rainer H.; Schradin, Carsten

    2016-01-01

    It has been recognized that during chronic inflammatory systemic diseases (CIDs) maladaptations of the immune, nervous, endocrine and reproductive system occur. Maladaptation leads to disease sequelae in CIDs. The ultimate reason of disease sequelae in CIDs remained unclear because clinicians do not consider bodily energy trade-offs and evolutionary medicine. We review the evolution of physiological supersystems, fitness consequences of genes involved in CIDs during different life-history sta...

  4. Chronic obstructive pulmonary disease.

    Science.gov (United States)

    Barnes, Peter J; Burney, Peter G J; Silverman, Edwin K; Celli, Bartolome R; Vestbo, Jørgen; Wedzicha, Jadwiga A; Wouters, Emiel F M

    2015-01-01

    Chronic obstructive pulmonary disease (COPD) is a common disease with high global morbidity and mortality. COPD is characterized by poorly reversible airway obstruction, which is confirmed by spirometry, and includes obstruction of the small airways (chronic obstructive bronchiolitis) and emphysema, which lead to air trapping and shortness of breath in response to physical exertion. The most common risk factor for the development of COPD is cigarette smoking, but other environmental factors, such as exposure to indoor air pollutants - especially in developing countries - might influence COPD risk. Not all smokers develop COPD and the reasons for disease susceptibility in these individuals have not been fully elucidated. Although the mechanisms underlying COPD remain poorly understood, the disease is associated with chronic inflammation that is usually corticosteroid resistant. In addition, COPD involves accelerated ageing of the lungs and an abnormal repair mechanism that might be driven by oxidative stress. Acute exacerbations, which are mainly triggered by viral or bacterial infections, are important as they are linked to a poor prognosis. The mainstay of the management of stable disease is the use of inhaled long-acting bronchodilators, whereas corticosteroids are beneficial primarily in patients who have coexisting features of asthma, such as eosinophilic inflammation and more reversibility of airway obstruction. Apart from smoking cessation, no treatments reduce disease progression. More research is needed to better understand disease mechanisms and to develop new treatments that reduce disease activity and progression. PMID:27189863

  5. Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.

    Science.gov (United States)

    Kuijpers, Taco W; Ijspeert, Hanna; van Leeuwen, Ester M M; Jansen, Machiel H; Hazenberg, Mette D; Weijer, Kees C; van Lier, Rene A W; van der Burg, Mirjam

    2011-06-01

    A girl presented during childhood with a single course of extensive chickenpox and moderate albeit recurrent pneumonia in the presence of idiopathic CD4+ T lymphocytopenia (ICL). Her clinical condition remained stable over the past 10 years without infections, any granulomatous disease, or autoimmunity. Immunophenotyping demonstrated strongly reduced naive T and B cells with intact proliferative capacity. Antibody reactivity on in vivo immunizations was normal. T-cell receptor-Vβ repertoire was polyclonal with a very low content of T-cell receptor excision circles (TRECs). Kappa-deleting recombination excision circles (KRECs) were also abnormal in the B cells. Both reflect extensive in vivo proliferation. Patient-derived CD34+ hematopoietic stem cells could not repopulate RAG2(-/-)IL2Rγc(-/-) mice, indicating the lymphoid origin of the defect. We identified 2 novel missense mutations in RAG1 (p.Arg474Cys and p.Leu506Phe) resulting in reduced RAG activity. This report gives the first genetic clue for ICL and extends the clinical spectrum of RAG mutations from severe immune defects to an almost normal condition. PMID:21502542

  6. Cutaneous Rosai-Dorfman disease presenting as a granulomatous rosacea-like rashs

    Institute of Scientific and Technical Information of China (English)

    SHI Xiu-yan; MA Dong-lai; FANG Kai

    2011-01-01

    A case of cutaneous Rosai-Dorfman disease (CRDD) presenting as a granulomatous rosacea-like rashs was reported. A 45-year-old Chinese woman presented with a 1-month history of a widespread nonpruiginous papulonodular eruption.The rash had begun on her face and rapidly progressed to involve the neck and extremities. She was otherwise healthy,with no history of fever, malaise, or weight loss. Physical examination revealed multiple symmetrically distributed discrete and coalescing red plaques, papules and nodules scattered over the face, neck and extremities. No appreciable lymphadenopathy or hepatosplenomegaly was noted. There was no mucosal involvement. The biopsy specimen obtained from the face demonstrated the epidermis was normal, while the superficial dermis contained sheets of histiocytes with abundant, focally foamy cytoplasm. The histiocytes were surrounded by a patchy lymphocytic and plasma cell infiltrate. There was no significant histiocytic atypia. Some of these histiocytes engulfed, without destroying,lymphocytes and neutrophils (emperipolesis). Immunohistochemical staining revealed that the histiocytes were strongly positive for S100 protein, weakly positive for CD68, and negative for CD1a. A diagnosis of CRDD was made. Oral prednisone therapy was initiated at a dosage of 30 mg/d for 3 weeks and then tapered over the ensuing 2 weeks. After 5weeks of treatment, the lesions had markedly improved.

  7. Chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    V K Vijayan

    2013-01-01

    Full Text Available The global prevalence of physiologically defined chronic obstructive pulmonary disease (COPD in adults aged >40 yr is approximately 9-10 per cent. Recently, the Indian Study on Epidemiology of Asthma, Respiratory Symptoms and Chronic Bronchitis in Adults had shown that the overall prevalence of chronic bronchitis in adults >35 yr is 3.49 per cent. The development of COPD is multifactorial and the risk factors of COPD include genetic and environmental factors. Pathological changes in COPD are observed in central airways, small airways and alveolar space. The proposed pathogenesis of COPD includes proteinase-antiproteinase hypothesis, immunological mechanisms, oxidant-antioxidant balance, systemic inflammation, apoptosis and ineffective repair. Airflow limitation in COPD is defined as a postbronchodilator FEV1 (forced expiratory volume in 1 sec to FVC (forced vital capacity ratio <0.70. COPD is characterized by an accelerated decline in FEV1. Co morbidities associated with COPD are cardiovascular disorders (coronary artery disease and chronic heart failure, hypertension, metabolic diseases (diabetes mellitus, metabolic syndrome and obesity, bone disease (osteoporosis and osteopenia, stroke, lung cancer, cachexia, skeletal muscle weakness, anaemia, depression and cognitive decline. The assessment of COPD is required to determine the severity of the disease, its impact on the health status and the risk of future events (e.g., exacerbations, hospital admissions or death and this is essential to guide therapy. COPD is treated with inhaled bronchodilators, inhaled corticosteroids, oral theophylline and oral phosphodiesterase-4 inhibitor. Non pharmacological treatment of COPD includes smoking cessation, pulmonary rehabilitation and nutritional support. Lung volume reduction surgery and lung transplantation are advised in selected severe patients. Global strategy for the diagnosis, management and prevention of Chronic Obstructive Pulmonary Disease

  8. Chronic kidney disease

    Science.gov (United States)

    ... enable JavaScript. Chronic kidney disease is the slow loss of kidney function over time. The main job of the kidneys is to remove wastes and excess water from the body. Causes ... over months or years. You may not notice any symptoms for some time. The loss of function may be so slow that you ...

  9. Screening for Chronic Kidney Disease

    Science.gov (United States)

    Understanding Task Force Recommendations Screening for Chronic Kidney Disease The U.S. Preventive Services Task Force (Task Force) has issued a final recommendation on Screening for Chronic Kidney Disease (CKD) . This recommendation ...

  10. Radiology of chronic diseases of the ankle joint

    International Nuclear Information System (INIS)

    The etiology of chronic diseases of the ankle joint comprises a wide spectrum including chronic inflammatory processes and chronic degenerative, tumorous and neuropathic processes, as well as some specific syndromes based on chronic changes of the ankle joint. Of the inflammatory processes, chronic juvenile arthritis (JVC) is the most common disease. However, also Reiter disease, psoriasis or chronic monoarthritid diseases such as gout, as well as granulomatous diseases (tuberculosis, sarcoidosis) and fungal infections, may affect the ankle joint in a chronic course. Chronic degenerative changes are usually secondary due to abnormal positioning of the joint constituents or repetitive trauma. Neuropathic changes, as frequently seen in the course of diabetes, present with massive osseous destruction and malposition of the articular constituents. Chronic osseous as well as cartilaginous and synovial changes are seen in hemoplici patients. Chronic traumatic changes are represented by pigmented villonodular synovitis (PVNS), and chondromatosis, both with a predilection for the ankle joint. Due to the possibilities of magnetic resonance imaging (MRI), diagnosis of chronic ankle changes includes chronic ligamentous, tendinous and soft tissue changes. With the use MRI, specific syndromes can be defined which particularly affect the ankle joint in a chronic way, such as the os trigonum syndrome, the anterolateral impingement syndrome and the sinus tarsi syndrome. Nevertheless, plain film radiographs are still the basic element of any investigation. MRI, however, can be potentially used as a second investigation, saving an unnecessary cascade of investigations with ultrasound and CT. The latter investigations are used only with very specific indications, for instance CT for subtle bone structures and sonography for a limited investigation of tendons or evaluation of fluid. Particularly due to the possibilities of MRI and the development of special gradient-echo imaging or

  11. Localized granulomatous pyoderma gangrenosum

    Directory of Open Access Journals (Sweden)

    Mamta A

    2003-01-01

    Full Text Available A 21-year-old female presented with erythematous, painful, crusted plaques on her right arm and left thigh of 4 month's duration. There was no history of preceding trauma or constitutional symptoms. Response to oral antibioticas was poor. Clinical differential diagnoses of pyoderma gangrenosum (PG and granulomatous skin diseases such as deep fungal infection, lupus vulgaris and sarcoidosis were considered. Histopathology revealed features of granulomatous variant of PG. The patient was initially treated with dapsone and topical clobetasone propionate but she developed dapsone induced hepatitis and anemia warranting stoppage of the drug. She recovered completely from these side effects and was subsequently treated successfully with intralesional triamcinolone injections.

  12. Localized granulomatous pyoderma gangrenosum

    Directory of Open Access Journals (Sweden)

    Mamta A

    2003-03-01

    Full Text Available A 21-year-old female presented with erythematous, painful, crusted plaques on her right arm and left thigh of 4 month's duration. There was no history of preceding trauma or constitutional symptoms. Response to oral antibioticas was poor. Clinical differential diagnoses of pyoderma gangrenosum (PG and granulomatous skin diseases such as deep fungal infection, lupus vulgaris and sarcoidosis were considered. Histopathology revealed features of granulomatous variant of PG. The patient was initially treated with dapsone and topical clobetasone propionate but she developed dapsone induced hepatitis and anemia warranting stoppage of the drug. She recovered completely from these side effects and was subsequently treated successfully with intralesional triamcinolone injections.

  13. Allergic granulomatous angiitis

    OpenAIRE

    Trifunović Gordana; Plavec Goran; Tomić Ilija; Popović Lidija; Stefanović Dušan

    2004-01-01

    Allergic granulomatous angiitis (AGA) - Churg-Strauss syndrome, is a rare autoimmune disease characterized by three distinct clinical phases prodromal, eosinophilic, and vasculitic, and most of respiratory symptoms and signs begin in the first two phases of the disease. Two female patients of different age, who fulfilled the diagnostic criteria for AGA, and were in different phases and with the different duration of the disease are presented. The first patient (24 years of age) was admitted t...

  14. Diagnostic usefulness of bronchoalveolar lavage, Ga scintigraphy and serum angiotensin converting enzyme activity in granulomatous lung disease

    International Nuclear Information System (INIS)

    Cellular components of bronchoalveolar lavage (BAL) fluid were studied in 26 sarcoid patients, 8 patients with farmer's lung, 10 healthy controls and 10 control patients. The investigations by Ga scintigraphy or transbronchial lung biopsy (TBLB) and measurement of serum angiotensin converting enzyme (SACE) activity were also carried out in 21 sarcoid patients and 8 patients with farmer's lung. 1) Percentage of foamy cells in alveolar ma crophage fraction, percentage of lymphocytes and number of mast cells were increased significantly in BLA fluid from patients with farmer's lung as compared with that from sarcoid patients. Analysis of cellular component of BAL flu id is useful for differential diagnosis of these diseases. 2) Granulomatous lung lesions were frequently observed in specimens obtained by TBLB from patients with sarcoidosis and farmer's lung who showed abnormal Ga uptake in lung. In contrast, there was no significant difference in percentage of lymphocytes in BAL fluid between patients whose pulmonary Ga uptake was positive and those in whom pulmonary Ga uptake was negative. To investigate the mechanism of pulmonary Ga accumulation in granulomatous lung disease, BAL was performed in 2 sarcoid patients and 3 patients with farmer's lung at 48 to 72 hrs after Ga injection. The radioactivity in cell fractions was evaluated at 96 hrs after Ga injection. Most of the radioactivity was found in macrophages, with little in lymphocytes. Pulmonary Ga uptake in patients with sarcoidosis and farmer' s lung reflects granuloma formation or accumulation of activated macrophages in lung, but not the intensity of T-cell alveolitis. 3) Some relationship among SACE, granulomatous lung lesions in specimens obtained by TBLB and abnormal Ga accumulation in lung or hilar lymphnodes in sarcoid patients was observed, suggesting that SACE might reflect the degree of granuloma formation in sarcoidosis. (J.P.N.)

  15. Hyperphosphatemia of Chronic Kidney Disease

    OpenAIRE

    Hruska, Keith A.; Mathew, Suresh; Lund, Richard; Qiu, Ping; Pratt, Raymond

    2008-01-01

    Observational studies have determined hyperphosphatemia to be a cardiovascular risk factor in chronic kidney disease. Mechanistic studies have elucidated that hyperphosphatemia is a direct stimulus to vascular calcification, which is one cause of morbid cardiovascular events contributing to the excess mortality of chronic kidney disease. This review describes the pathobiology of hyperphosphatemia that develops as a consequence of positive phosphate balance in chronic kidney disease and the me...

  16. Chronic Kidney Disease and Medicines

    Science.gov (United States)

    ... from our online catalog. Alternate Language URL Español Chronic Kidney Disease and Medicines: What You Need to Know Page ... What you need to know Because you have chronic kidney disease, you should take steps to protect your kidneys. ...

  17. Clinical Scenarios in Chronic Kidney Disease: Chronic Tubulointerstitial Diseases.

    Science.gov (United States)

    Meola, Mario; Samoni, Sara; Petrucci, Ilaria

    2016-01-01

    Chronic tubulointerstitial diseases are a common final pathway toward chronic renal failure regardless the primary damage (glomerular, vascular or directly the tubulointerstitium). Chronic tubulointerstitial nephritis (CTN) is characterized by interstitial scarring, fibrosis and tubule atrophy, resulting in progressive chronic kidney disease. Most frequent causes of CTN are drugs, heavy metals, obstructive uropathy, nephrolithiasis, reflux disease, immunologic diseases, neoplasia, ischemia, metabolic diseases, genetics and miscellaneous. At ultrasound (US), kidneys' morphological aspect is similar in all forms of chronic interstitial nephropathy and only chronic pyelonephritis with or without reflux shows distinguishing characteristics. In interstitial nephropathy, kidneys' profiles are finely irregular and corticomedullary differentiation is altered because of a diffused hyperechogenicity. The only indirect sign of chronic interstitial damage can be derived from the value of intrarenal resistive indexes that hardly overcome 0.75. US is mandatory in clinical chronic pyelonephritis work-up because it provides information on kidney's diameter and on growth nomogram in children. Renal profiles can be more or less altered depending on the number of cortical scars and the presence of pseudonodular areas of segmental compensatory hypertrophy. In the early stages, US diagnosis of renal tuberculosis is difficult because parenchymal lesions are non-specific. US sensitivity in the diagnosis of hydronephrosis is very high, close to 100% and, finally, US is the first choice imaging technique in the diagnosis of urinary lithiasis. PMID:27169608

  18. Chronic Liver Disease and African Americans

    Science.gov (United States)

    ... American > Chronic Liver Disease Chronic Liver Disease and African Americans Among African Americans, chronic liver disease is a ... white women. At a glance – Cancer Rates for African Americans (2008-2012) Cancer Incidence Rates per 100,000 – ...

  19. Chronic diseases and mental disorder.

    NARCIS (Netherlands)

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

    2005-01-01

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

  20. Nutrition in Chronic Liver Disease

    OpenAIRE

    Marco Silva; Sara Gomes; Armando Peixoto; Paulo Torres-Ramalho; Hélder Cardoso; Rosa Azevedo; Carla Cunha; Guilherme Macedo

    2015-01-01

    Protein-calorie malnutrition is a transversal condition to all stages of chronic liver disease. Early recognition of micro or macronutrient deficiencies is essential, because the use of nutritional supplements reduces the risk of complications. The diet of patients with chronic liver disease is based on a standard diet with supplements addition as necessary. Restrictions may be harmful and should be individualized. Treatment management should aim to maintain an adequate protein and caloric...

  1. Occupational chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Omland, Oyvind; Würtz, Else Toft; Aasen, Tor Brøvig;

    2014-01-01

    Occupational-attributable chronic obstructive pulmonary disease (COPD) presents a substantial health challenge. Focusing on spirometric criteria for airflow obstruction, this review of occupational COPD includes both population-wide and industry-specific exposures.......Occupational-attributable chronic obstructive pulmonary disease (COPD) presents a substantial health challenge. Focusing on spirometric criteria for airflow obstruction, this review of occupational COPD includes both population-wide and industry-specific exposures....

  2. Granulomatous lobular mastitis ,A case series.

    Directory of Open Access Journals (Sweden)

    Ali Pourzand

    2014-05-01

    Full Text Available BACKGROUND: Granulomatous lobular mastitis (GLM is an inflammatory disease of the breast, which can mimic breast cancer in clinical and radiological findings. We conducted the present study in order to determine the diagnostic and other important aspects of this disease. METHODS: In this study, we reviewed the records of 38 patients with granulomatous lobular mastitis in order to describe the clinical, imaging, laboratory, pathologic, and treatment aspects of this disease. RESULTS: All of the patients’ ages were in the range of 22-62 years (mean age: 42 years. All of them had children, history of oral contraceptive pill (OCP usage, antibiotic therapy and mammoplasty. In physical examination, dimpling, edema, inflammation, ulcer, abscess, and firm mass were detected. Size of masses was in the range of 2 × 2 to 8 × 6 cm and their location, in most cases, was in the superior lateral quadrant or central region. In Ultrasonography, a hypoechoic fibroglandular mass and collection, and in pathologic findings, granulomatous reaction was reported. These patients were treated by antibiotics, corticosteroids, and surgery. CONCLUSIONS: GLM is a chronic inflammatory lesion of the breast which can mimic breast cancer. A history of child bearing, lactation, and OCP drug usage have suspicious roles in the formation of GLM. The most common clinical sign in these patients is a painful mass in the breast. We uncovered that clinical and radiological findings are not specific and sufficient for diagnosis of GLM. Therefore, for better diagnosis of this disease, usage of core, incisional, or excisional biopsy are recommended.

  3. Idiopathic granulomatous hepatitis in an 11-year-old boy

    Directory of Open Access Journals (Sweden)

    Deepika Rustogi

    2016-01-01

    Full Text Available Hepatic granulomas are reported in 2-15% of all liver biopsies that are attributable to various causes. Owing to the diverse prognostic and therapeutic implications, a detailed workup of all liver biopsies with granulomatous lesions is mandatory. The cause of the disease may remain obscure in up to 50% cases of "idiopathic granulomatous hepatitis" (IGH. This disease runs a chronic relapsing course. Hepatocellular dysfunction may be an early predominant manifestation unlike that in the available literature. Timely recognition and diagnosis of IGH is imperative as the disease responds well to immunosuppressants that can prevent permanent liver damage. We report a case of a young boy with IGH who was successfully treated with immunosuppressive therapy.

  4. Anemia in Chronic Kidney Disease

    Science.gov (United States)

    ... Disease Organizations​​ . (PDF, 345 KB)​​​​​ Alternate Language URL Anemia in Chronic Kidney Disease Page Content On this ... Nutrition Points to Remember Clinical Trials What is anemia? Anemia is a condition in which the body ...

  5. Chronic Lyme Disease: An appraisal

    OpenAIRE

    Marques, Adriana

    2008-01-01

    Chronic Lyme disease” is a confusing term that has been used to describe very different patient populations. Studies have shown that most patients diagnosed with “chronic Lyme disease” either have no objective evidence of previous or current infection with B. burgdorferi or are patients that should be classified as having post-Lyme disease syndrome, which is defined as continuing or relapsing non-specific symptoms (such as fatigue, musculoskeletal pain, and cognitive complaints) in a patient...

  6. Chronic diseases and mental disorder.

    OpenAIRE

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

    2005-01-01

    The aim of this study was to achieve a better understanding of the relationship between chronic medical illness and mental distress. Therefore, the association between chronic medical illness and mental distress was analysed, taking into account the modifying effects of generic disease characteristics (concerning course, control and possible stressful consequences), physical quality of life indicators and social and relationship problems. Panel data from the Dutch national Panel of Patients w...

  7. Granulomatous lobular mastitis.

    OpenAIRE

    Going, J J; Anderson, T. J.; Wilkinson, S; Chetty, U.

    1987-01-01

    The clinical and pathological features of nine cases of granulomatous mastitis were compared with those of 10 cases of duct ectasia/periductal mastitis (DE/PM), all of which were associated with active granulomatous inflammation. Granulomatous mastitis affects a younger age group, and although there is some overlap with DE/PM, it has distinctive pathological features, particularly a lobule centred distribution, for which the term "granulomatous lobular mastitis" is recommended. There is a str...

  8. About Chronic Kidney Disease

    Science.gov (United States)

    ... Sign up for our FREE magazine, Kidney Living Organ Donation & Transplantation Be an Organ Donor Living Donation Donor ... Giving Primary menu Home Prevention Kidney Disease Patients Organ Donation & Transplantation Professionals Events Advocacy Donate Search Search Header ...

  9. Diet - chronic kidney disease

    Science.gov (United States)

    ... Many foods contain extra iron (liver, beef, pork, chicken, lima and kidney beans, iron-fortified cereals). Talk to your provider or dietitian about which foods with iron you can eat because of your kidney disease.

  10. Osteoporosis across chronic liver disease.

    Science.gov (United States)

    Guarino, M; Loperto, I; Camera, S; Cossiga, V; Di Somma, C; Colao, A; Caporaso, N; Morisco, F

    2016-06-01

    Osteoporosis is a complication of chronic liver disease, with impact on morbidity, quality of life, and survival. The progress of medicine and the new therapies stretched the disease's natural history and improved the survival of patients with liver disease. So, it is fundamental to make better the quality of life and to prevent complications. Metabolic bone disorders are common complications of chronic liver disease (CLD). Patients with CLD have an increased risk of bone fractures, with significant impact on morbidity, quality of life, and even on survival. Bone diseases, including osteomalacia, osteoporosis, and osteopenia, are frequently observed in many types of liver disease. The pathogenesis of damage and the mechanisms of bone loss are different in relation to the specific liver disease. The relevance of these conditions induced many authors to create a new nosographic entity known as "hepatic osteodystrophy", although this term is rarely used anymore and it is now commonly referred to as osteopenia or osteoporosis associated with chronic liver disease. This review is based on the personal experiences of the authors and upon research done of the available literature on this subject matter. The authors searched the PubMed database for publications containing the term "liver disease" in combination with "bone disease", "hepatic osteodistrophy", "osteoporosis", "osteopenia", "osteomalacia", and "fractures". They selected publications from the past 10 years but did not exclude older seminal publications, especially for colestatic liver diseases. This review of literature shows that osteoporosis crosses all CLD. It is important to underline that the progress of medicine and the new therapies stretched the disease's natural history and improved the survival of patients with CLD. It is fundamental to make better the quality of life and it is mandatory to prevent complications and in particular the osteoporotic ones, especially fractures. PMID:26846777

  11. Chronic Beryllium Disease

    Science.gov (United States)

    ... an immune response or “allergy” to beryllium metal, ceramic or alloy, termed beryllium sensitization (BeS). Beryllium sensitization occurs after ... Mroz MM, Newman LS. Beryllium disease screening in ceramics industry: Blood test ... at a metal, alloy and oxide production plant. Occup Environ Med 1997; ...

  12. Conjuntivite granulomatosa atípica causada pela doença da arranhadura do gato: relato de caso Cat-scratch disease causing atypical granulomatous conjunctivitis: case report

    Directory of Open Access Journals (Sweden)

    Alexandre Hassler Príncipe de Oliveira

    2004-06-01

    Full Text Available 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, resident of Germany, who presented with a bilateral chronic granulomatous conjunctivitis, without lymphoadenopathy and irresponsive to topical treatment. Laboratorial work-up confirmed Bartonella henselae as the etiologic agent. The case shows that the absence of lymphoadenopathy does not exclude the diagnosis of cat-scratch disease.

  13. Chronic Venous Disease under pressure

    NARCIS (Netherlands)

    S.W.I. Reeder (Suzan)

    2013-01-01

    textabstractIn chapter 1 we provide a general introduction of this thesis. Chronic venous disease (CVD) is a common medical condition that affects 2-64% of the worldwide population and leads to leg ulcers in 1% of the Western population. Venous leg ulceration (VLU) has an unfavorable prognosis with

  14. NAFLD and Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Morgan Marcuccilli

    2016-04-01

    Full Text Available Non-alcoholic fatty liver disease (NAFLD is the most common cause of chronic liver disease in developed countries and it is now considered a risk factor for cardiovascular disease. Evidence linking NAFLD to the development and progression of chronic kidney disease (CKD is emerging as a popular area of scientific interest. The rise in simultaneous liver-kidney transplantation as well as the significant cost associated with the presence of chronic kidney disease in the NAFLD population make this entity a worthwhile target for screening and therapeutic intervention. While several cross-sectional and case control studies have been published to substantiate these theories, very little data exists on the underlying cause of NAFLD and CKD. In this review, we will discuss the most recent publications on the diagnosis of NAFLD as well new evidence regarding the pathophysiology of NAFLD and CKD as an inflammatory disorder. These mechanisms include the role of obesity, the renin-angiotensin system, and dysregulation of fructose metabolism and lipogenesis in the development of both disorders. Further investigation of these pathways may lead to novel therapies that aim to target the NAFLD and CKD. However, more prospective studies that include information on both renal and liver histology will be necessary in order to understand the relationship between these diseases.

  15. Allergic granulomatous angiitis

    Directory of Open Access Journals (Sweden)

    Trifunović Gordana

    2004-01-01

    Full Text Available Allergic granulomatous angiitis (AGA - Churg-Strauss syndrome, is a rare autoimmune disease characterized by three distinct clinical phases prodromal, eosinophilic, and vasculitic, and most of respiratory symptoms and signs begin in the first two phases of the disease. Two female patients of different age, who fulfilled the diagnostic criteria for AGA, and were in different phases and with the different duration of the disease are presented. The first patient (24 years of age was admitted to the hospital due to aggravation of asthma, heart failure, and polyneuropathy. The second one (45 years of age was also hospitalized due to the worsening of asthma polyneuropathy, and fever. Both were treated continuously with glucocorticoids. The older patient also received a total of six pulse doses of cyclophosphamide. Satisfactory response to such a treatment was achieved in both cases.

  16. Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells

    Science.gov (United States)

    2016-05-11

    Stem Cell Transplantation; Bone Marrow Transplantation; Peripheral Blood Stem Cell Transplantation; Allogeneic Transplantation,; Genetic Diseases; Thalassemia; Pediatrics; Diamond-Blackfan Anemia; Combined Immune Deficiency; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; X-linked Lymphoproliferative Disease; Metabolic Diseases

  17. Nodular Epiescleritis Granulomatous Canine. Case Report

    Directory of Open Access Journals (Sweden)

    Camilo Guarín Patarroyo

    2011-12-01

    Full Text Available Granulomatous epiescleritis nodular disease in canines is a very unusual presentation that affects or external fibrous tunic of the eyeball and conjunctiva, which was an increase similar to a unilateral or bilateral tumor. Suspected immune-mediated disease due to lack of identification of an etiologic agent and the response to treatment with immunosuppressive drugs (Couto, 1992. The ideal therapy is the application of steroids via intralesional, topical or systemic, or other immunosuppressants such as cyclosporine and azathioprine; it is still advisable to apply antibiotic is the ideal combination of tetracycline and neomycin (Gilger & Whitley, 1999. The diagnostic method of episcleritis is made by histopathology, which is evident in changes similar to chronic granulomatous inflammation. Are claiming a racial bias in Alsatian, Shepherd Collie Shetland Shepherd, Coker Spaniel, Rottweiler and Labrador Retriever (Gough & Thomas, 2004. The following case is a report of a nodular epiescleritis affecting the cornea, sclera, and the corneoscleral limbus, which describes the diagnosis, signology and treatment.

  18. Chronic obstructive pulmonary disease.

    Science.gov (United States)

    Brusasco, Vito; Martinez, Fernando

    2014-01-01

    COPD is characterized by airflow limitation that is not fully reversible. The morphological basis for airflow obstruction results from a varying combination of obstructive changes in peripheral conducting airways and destructive changes in respiratory bronchioles, alveolar ducts, and alveoli. A reduction of vascularity within the alveolar septa has been reported in emphysema. Typical physiological changes reflect these structural abnormalities. Spirometry documents airflow obstruction when the FEV1/FVC ratio is reduced below the lower limit of normality, although in early disease stages FEV1 and airway conductance are not affected. Current guidelines recommend testing for bronchoreversibility at least once and the postbronchodilator FEV1/FVC be used for COPD diagnosis; the nature of bronchodilator response remains controversial, however. One major functional consequence of altered lung mechanics is lung hyperinflation. FRC may increase as a result of static or dynamic mechanisms, or both. The link between dynamic lung hyperinflation and expiratory flow limitation during tidal breathing has been demonstrated. Hyperinflation may increase the load on inspiratory muscles, with resulting length adaptation of diaphragm. Reduction of exercise tolerance is frequently noted, with compelling evidence that breathlessness and altered lung mechanics play a major role. Lung function measurements have been traditionally used as prognostic indices and to monitor disease progression; FEV1 has been most widely used. An increase in FVC is also considered as proof of bronchodilatation. Decades of work has provided insight into the histological, functional, and biological features of COPD. This has provided a clearer understanding of important pathobiological processes and has provided additional therapeutic options. PMID:24692133

  19. Endothelins in chronic liver disease

    DEFF Research Database (Denmark)

    Møller, Søren; Henriksen, Jens Henrik

    1996-01-01

    and neurohumoral dysregulation found in cirrhosis. Recent studies have shown that the ET system is highly activated in most cirrhotic patients. Circulating ET-1 and ET-3 levels have a positive relation to the severity of the disease and fluid retention, with the highest values recorded in patients...... venous hypertension. In addition, marked associations with disturbance of systemic haemodynamics and with abnormal distribution of blood volume have been reported. Although the pathophysiological importance of the ET system in chronic liver disease is not completely understood, similarities to other......This review describes recent progress in the accumulation of knowledge about the endothelins (ETs), a family of vasoactive 21-amino acid polypeptides, in chronic liver disease. Particular prominence is given to the dynamics of ET-1 and ET-3 and their possible relation to the disturbed circulation...

  20. [Chronic prostatitis and Bechterew's disease].

    Science.gov (United States)

    Kohlicek, J; Svec, V

    1977-11-01

    A group of patients between 35 and 65 years old with chronic prostatitis were examined for the presence of Becherew's disease. In this connection the New York and Roman criterions for morbus Bechterew were applied. There were found one ankyosing spondylarthritis, one ankylosis of the sacroiliac joint, and 11 times a tentative sacroileitis were stated. Altogether the proved and tentative findings were only 3.68 per cent of all examinations. In our countries the morbus Bechterew is found in 0,21 per cent of the normal population. So the protion of the Bechterew's disease in patients with chronic prostatitis is indeed a little higher than average, but not so frequent as often pretended in recent times. After a second series 58 patients being treated because of Bechterew's disease of different stages and different terms were examined for the possibility of a simultaneously elapsing chronic prostatitis. A chronic prostatitis was found in 38 per cent of these patients which correspondents to the incidence published in literature for the medium-age manhood. Nobody of the test persons had complaints on the part of the urologenital tract. PMID:602457

  1. Asthma: a chronic infectious disease?

    Science.gov (United States)

    Caramori, Gaetano; Papadopoulos, Nikos; Contoli, Marco; Marku, Brunilda; Forini, Giacomo; Pauletti, Alessia; Johnston, Sebastian L; Papi, Alberto

    2012-09-01

    There are increasing data to support the "hygiene" and "microbiota" hypotheses of a protective role of infections in modulating the risk of subsequent development of asthma. There is less evidence that respiratory infections can actually cause the development of asthma. There is some evidence that rhinovirus respiratory infections are associated with the development of asthma, particularly in childhood, whereas these infections in later life seem to have a weaker association with the development of asthma. The role of bacterial infections in chronic asthma remains unclear. This article reviews the available evidence indicating that asthma may be considered as a chronic infectious disease. PMID:22929096

  2. Idiopathic granulomatous mastitis

    International Nuclear Information System (INIS)

    Objective was to discuss the clinical and radiological features and treatment approaches in 14 patients diagnosed with idiopathic granulomatous mastitis (GM). We retrospectively evaluated the clinical features, radiological findings and treatment approaches in 14 patients with idiopathic GM in the General Surgery Department, Gulhane School of Medicine, Ankara, Turkey between April 2000 and June 2006. The mean age of the patients was 34.5 years (range 27-41 years). The complaints at admission were a mass in the breast in 7 (50%) patients, an abscess and a mass in 6 (42.8%) and a skin fisculain one (7.2%). Granulomatous mastitis was unilateral in all subjects (on the right in 5 patients and on the left in 9). All of the patients underwent ultrasonographic evaluation. Mammography was performed in 8 and magnetic resonance imaging in 5 patients. Seven patients (50%) were suspected to have breast carcinoma according radiological findings. We performed the large excision in 11, incisional biopsy plus abscess drainage in one, and incisional biopsy plus abscess drainage plus medical treatment (prednisolone, methotrexate) in 2 patients. Due to the development of abscess after 9 months, drainage and large excision were performed in one patient who received medical treatment. Idiopathic GM is a disease that generally affects young women of reproductive age and may be mistaken for breast carcinoma in clinical and radiological evaluations. The gold standard for the diagnosis is histopathologic evaluation. (author)

  3. Risk Factors for Chronic Kidney Disease

    Science.gov (United States)

    ... Materials Webinars Tips & Stories Links & Resources Learn About Chronic Kidney Disease Kidney Glossary Ask Our Expert Toll-Free Helpline: ... Questions What You Can Do Download all the chronic kidney disease information presented here. Preview Our CKD Booklets Stage ...

  4. Pericytes in chronic lung disease.

    Science.gov (United States)

    Rowley, Jessica E; Johnson, Jill R

    2014-01-01

    Pericytes are mesenchymal cells embedded within the abluminal surface of the endothelium of microvessels such as capillaries, pre-capillary arterioles, post-capillary and collecting venules, where they maintain microvascular homeostasis and participate in angiogenesis. In addition to their roles in supporting the vasculature and facilitating leukocyte extravasation, pericytes have been recently investigated as a subpopulation of mesenchymal stem cells (MSCs) due to their capacity to differentiate into numerous cell types including the classic MSC triad, i.e. osteocytes, chondrocytes and adipocytes. Other studies in models of fibrotic inflammatory disease of the lung have demonstrated a vital role of pericytes in myofibroblast activation, collagen deposition and microvascular remodelling, which are hallmark features of chronic lung diseases such as asthma, chronic obstructive pulmonary disorder, pulmonary fibrosis and pulmonary hypertension. Further studies into the mechanisms of the pericyte-to-myofibroblast transition and migration to fibrotic foci will hopefully clarify the role of these cells in chronic lung disease and confirm the importance of pericytes in human fibrotic pulmonary disease. PMID:25034005

  5. Endothelins in chronic liver disease

    DEFF Research Database (Denmark)

    Møller, S; Henriksen, Jens Henrik Sahl

    1996-01-01

    This review describes recent progress in the accumulation of knowledge about the endothelins (ETs), a family of vasoactive 21-amino acid polypeptides, in chronic liver disease. Particular prominence is given to the dynamics of ET-1 and ET-3 and their possible relation to the disturbed circulation...... with functional renal failure. Studies on liver biopsies have revealed synthesis of ET-1 in hepatic endothelial and other cells, and recent investigations have identified the hepatosplanchnic system as a major source of ET-1 and ET-3 spillover into the circulation, with a direct relation to portal...... venous hypertension. In addition, marked associations with disturbance of systemic haemodynamics and with abnormal distribution of blood volume have been reported. Although the pathophysiological importance of the ET system in chronic liver disease is not completely understood, similarities to other...

  6. Myeloperoxidase in Chronic Kidney Disease

    OpenAIRE

    Madhusudhana Rao, A; Anand, Usha; Anand, C. V.

    2010-01-01

    Numerous lines of evidence implicate a role of myeloperoxidase (MPO) in the pathogenesis of cardiovascular disease (CVD). It is a well accepted fact that patients with chronic kidney disease (CKD) are at an increased risk for CVD. MPO is a pro-oxidant enzyme which could be involved in the increased susceptibility of these patients to CVD. Hence, the levels of plasma MPO was determined in healthy controls as well as in patients with CKD [stratified with the level of their kidney failure as CKD...

  7. Metformin in chronic kidney disease

    DEFF Research Database (Denmark)

    Heaf, James

    2014-01-01

    Metformin has traditionally been regarded as contraindicated in chronic kidney disease (CKD), though guidelines in recent years have been relaxed to permit therapy if the glomerular filtration rate (GFR) is > 30 mL/min. The main problem is the perceived risk of lactic acidosis (LA). Epidemiological...... reduction, including weight loss, which are beneficial to patients. The risk of death and cardiovascular disease is reduced by about a third in non-CKD patients. Since metformin intoxication undoubtedly causes LA, and metformin is renally excreted, inappropriate dosage of metformin will increase the risk of...

  8. Chronic Obstructive Pulmonary Disease Biomarkers

    Directory of Open Access Journals (Sweden)

    Tatsiana Beiko

    2016-04-01

    Full Text Available Despite significant decreases in morbidity and mortality of cardiovascular diseases (CVD and cancers, morbidity and cost associated with chronic obstructive pulmonary disease (COPD continue to be increasing. Failure to improve disease outcomes has been related to the paucity of interventions improving survival. Insidious onset and slow progression halter research successes in developing disease-modifying therapies. In part, the difficulty in finding new therapies is because of the extreme heterogeneity within recognized COPD phenotypes. Novel biomarkers are necessary to help understand the natural history and pathogenesis of the different COPD subtypes. A more accurate phenotyping and the ability to assess the therapeutic response to new interventions and pharmaceutical agents may improve the statistical power of longitudinal clinical studies. In this study, we will review known candidate biomarkers for COPD, proposed pathways of pathogenesis, and future directions in the field.

  9. Placental Origins of Chronic Disease.

    Science.gov (United States)

    Burton, Graham J; Fowden, Abigail L; Thornburg, Kent L

    2016-10-01

    Epidemiological evidence links an individual's susceptibility to chronic disease in adult life to events during their intrauterine phase of development. Biologically this should not be unexpected, for organ systems are at their most plastic when progenitor cells are proliferating and differentiating. Influences operating at this time can permanently affect their structure and functional capacity, and the activity of enzyme systems and endocrine axes. It is now appreciated that such effects lay the foundations for a diverse array of diseases that become manifest many years later, often in response to secondary environmental stressors. Fetal development is underpinned by the placenta, the organ that forms the interface between the fetus and its mother. All nutrients and oxygen reaching the fetus must pass through this organ. The placenta also has major endocrine functions, orchestrating maternal adaptations to pregnancy and mobilizing resources for fetal use. In addition, it acts as a selective barrier, creating a protective milieu by minimizing exposure of the fetus to maternal hormones, such as glucocorticoids, xenobiotics, pathogens, and parasites. The placenta shows a remarkable capacity to adapt to adverse environmental cues and lessen their impact on the fetus. However, if placental function is impaired, or its capacity to adapt is exceeded, then fetal development may be compromised. Here, we explore the complex relationships between the placental phenotype and developmental programming of chronic disease in the offspring. Ensuring optimal placentation offers a new approach to the prevention of disorders such as cardiovascular disease, diabetes, and obesity, which are reaching epidemic proportions. PMID:27604528

  10. Idiopathic granulomatous mastitis: presentation, investigation and management.

    Science.gov (United States)

    Benson, John R; Dumitru, Dorin

    2016-06-01

    Idiopathic granulomatous mastitis (IGM) is a rare chronic inflammatory condition of the breast which although benign can mimic carcinoma. Establishing a diagnosis can be challenging and requires a high index of suspicion with exclusion of infective and autoimmune breast diseases. IGM is characterized histologically by noncaseating granulomas which are of a lobulo-centric pattern and often associated with microabscess formation. Management of confirmed cases remains controversial with proponents of initial surgical or medical therapies - each has its associated problems which can be worse than the original symptoms of IGM. However, many patients require more than one modality of treatment to completely resolve IGM lesions and careful judgment is necessary to ensure optimal type and sequencing of treatments. PMID:27067146

  11. Clinical approach to chronic beryllium disease and other nonpneumoconiotic interstitial lung diseases.

    Science.gov (United States)

    Maier, Lisa A

    2002-10-01

    Exposures in the workplace result in a diverse set of diseases ranging from the pneumoconiosis to other interstitial lung diseases to acute lung injury. Physician awareness of the potential disease manifestations associated with specific exposures is important in defining these diseases and in preventing additional disease. Most occupational diseases mimic other forms of lung disease, including pulmonary fibrosis, sarcoidosis, adult respiratory distress syndrome (ARDS), and bronchiolitis. A "sarcoidosis"-like syndrome, usually limited to the lungs, may result from exposure to bioaerosols and a number of metals. Exposure to beryllium in the workplace produces a granulomatous lung disease clinically indistinguishable from sarcoidosis, chronic beryllium disease (CBD). Beryllium's ability to produce a beryllium-specific immune response is used in the beryllium lymphocyte proliferation tests to confirm a diagnosis of CBD and exclude sarcoidosis. Exposure to other metals must also be considered in the differential diagnosis of sarcoidosis. When an individual presents acutely with ARDS or acute lung injury, an acute inhalational exposure must be considered. Exposure to a number of irritant substances at high levels may cause a "chemical pneumonitis" or acute lung injury, depending on the solubility and physicochemical properties of the substance. Some of the most notable agents include nitrogen and sulfur oxides, phosgene, and smoke breakdown products. Ingestion of paraquat may also result in an ARDS syndrome, with pulmonary fibrosis eventually resulting. Bronchiolitis is a rare manifestation of inhalational exposures but must also be considered in the clinical evaluation of inhalational exposure. PMID:12362066

  12. Chronic non-communicable diseases.

    Science.gov (United States)

    Unwin, N; Alberti, K G M M

    2006-01-01

    Chronic non-communicable diseases (NCD) account for almost 60% of global mortality, and 80% of deaths from NCD occur in low- and middle-income countries. One quarter of these deaths--almost 9 million in 2005--are in men and women aged disease (30% of total global mortality), cancers (13%), chronic respiratory disease (7%) and diabetes (2%). These conditions share a small number of behavioural risk factors, which include a diet high in saturated fat and low in fresh fruit and vegetables, physical inactivity, tobacco smoking, and alcohol excess. In low- and middle-income countries such risk factors tend to be concentrated in urban areas and their prevalences are increasing as a result of rapid urbanization and the increasing globalisation of the food, tobacco and alcohol industries. Because NCD have a major impact on men and women of working age and their elderly dependents, they result in lost income, lost opportunities for investment, and overall lower levels of economic development. Reductions in the incidences of many NCD and their complications are, however, already possible. Up to 80% of all cases of cardiovascular disease or type-2 diabetes and 40% of all cases of cancer, for example, are probably preventable based on current knowledge. In addition, highly cost-effective measures exist for the prevention of some of the complications of established cardiovascular disease and diabetes. Achieving these gains will require a broad range of integrated, population-based interventions as well as measures focused on the individuals at high risk. At present, the international-assistance community provides scant resources for the control of NCD in poor countries, partly, at least, because NCD continue to be wrongly perceived as predominantly diseases of the better off. As urbanization continues apace and populations age, investment in the prevention and control of NCD in low-and middle-income countries can no longer be ignored. PMID:16899148

  13. Chronic Disease and Childhood Development: Kidney Disease and Transplantation.

    Science.gov (United States)

    Klein, Susan D.; Simmons, Roberta G.

    As part of a larger study of transplantation and chronic disease and the family, 124 children (10-18 years old) who were chronically ill with kidney disease (n=72) or were a year or more post-transplant (n=52) were included in a study focusing on the effects of chronic kidney disease and transplantation on children's psychosocial development. Ss…

  14. Chronic kidney disease in children.

    Science.gov (United States)

    Becherucci, Francesca; Roperto, Rosa Maria; Materassi, Marco; Romagnani, Paola

    2016-08-01

    Chronic kidney disease (CKD) is a major health problem worldwide. Although relatively uncommon in children, it can be a devastating illness with many long-term consequences. CKD presents unique features in childhood and may be considered, at least in part, as a stand-alone nosologic entity. Moreover, some typical features of paediatric CKD, such as the disease aetiology or cardiovascular complications, will not only influence the child's health, but also have long-term impact on the life of the adult that they will become. In this review we will focus on the unique issues of paediatric CKD, in terms of aetiology, clinical features and treatment. In addition, we will discuss factors related to CKD that start during childhood and require appropriate treatments in order to optimize health outcomes and transition to nephrologist management in adult life. PMID:27478602

  15. Anemia of Chronic Liver Diseases

    International Nuclear Information System (INIS)

    The pathogenetic mechanisms of anemia in patients with chronic liver disease were observed. Seventeen patients with moderate to advanced hepatic diseases were studied by various methods. Only patients without previous blood loss were included : 14 had cirrhosis, 2 had active chronic hepatitis, and one had inferior vena cava obstruction with associated liver cirrhosis. The followings were the results: 1. The anemia based on red blood cell count, Hb., and Ht. was found in 76.5-78.6% of the patients. 2. Red cell indices indicated that normo-macrocytic and normochromic anemia was present is the majority of the patients. 3. No evidence of megaloblastic anemia was found on the basis of the morphological examinations. 4. Serum iron, TIBC, % saturation and iron content in the bone marrow indicated that iron deficiency anemia was present in about half of the patients. 5. In the view of the erythrocyte dynamics, primary increase in the red cell destruction was ascribed to the cause of the anemia. 6. Decrease in the red cell survival time was not correlated with MCV, % saturation and S.L. ratio. Also, hemoglobin level was not correlated with MCV, % saturation and T50 Cr. Therefore, multiple causes may be involved in the pathogenesis of the anemia. 7. Anemia as determined by the red cell volume was found in only 60% of the patients. It may be possible that hemodilutional anemia is present.

  16. Hypertrophic osteoarthropathy of chronic inflammatory bowel disease

    Energy Technology Data Exchange (ETDEWEB)

    Oppenheimer, D.A.; Jones, H.H.

    1982-12-01

    The case of a 14-year old girl with painful periostitis and ulcerative colitis is reported. The association of chronic inflammatory bowel disease with osteoarthropathy is rare and has previously been reported in eight patients. The periosteal reaction found in association with inflammatory bowel disease is apparently related to a chronic disease course and may cause extreme localized pain.

  17. Hypertrophic osteoarthropathy of chronic inflammatory bowel disease

    International Nuclear Information System (INIS)

    The case of a 14-year old girl with painful periostitis and ulcerative colitis is reported. The association of chronic inflammatory bowel disease with osteoarthropathy is rare and has previously been reported in eight patients. The periosteal reaction found in association with inflammatory bowel disease is apparently related to a chronic disease course and may cause extreme localized pain. (orig.)

  18. Right Ventricular Dysfunction in Chronic Lung Disease

    OpenAIRE

    Kolb, Todd M.; Hassoun, Paul M.

    2012-01-01

    Right ventricular dysfunction arises in chronic lung disease when chronic hypoxemia and disruption of pulmonary vascular beds contribute to increase ventricular afterload, and is generally defined by hypertrophy with preserved myocardial contractility and cardiac output. Although the exact prevalence is unknown, right ventricular hypertrophy appears to be a common complication of chronic lung disease, and more frequently complicates advanced lung disease. Right ventricular failure is rare, ex...

  19. Chronic Kidney Disease and Endothelium

    Directory of Open Access Journals (Sweden)

    Damir Rebić

    2015-07-01

    Full Text Available The endothelial cell layer is responsible for molecular traffic between the blood and surrounding tissue, and endothelial integrity plays a pivotal role in many aspects of vascular function. Cardiovascular disease (CVD is the main cause of death in patients with chronic kidney disease (CKD and its incidence and severity increase in direct proportion with kidney function decline. Non-traditional risk factors for CVDs, including endothelial dysfunction (ED, are highly prevalent in this population and play an important role in cardiovascular (CV events. ED is the first step in the development of atherosclerosis and its severity has prognostic value for CV events. Several risk markers have been associated with ED. Reduced bioavailability of nitric oxide plays a central role, linking kidney disease to ED, atherosclerosis, and CV events. Inflammation, loss of residual renal function, and insulin resistance are closely related to ED in CKD. ED may be followed by structural damage and remodelling that can precipitate both bleeding and thrombotic events. The endothelium plays a main role in vascular tone and metabolic pathways. ED is the first, yet potentially reversible step in the development of atherosclerosis and its severity has prognostic value for CV events.

  20. Kidneys in chronic liver diseases

    Institute of Scientific and Technical Information of China (English)

    Marek Hartleb; Krzysztof Gutkowski

    2012-01-01

    Acute kidney injury (AKI),defined as an abrupt increase in the serum creatinine level by at least 0.3 mg/dL,occurs in about 20% of patients hospitalized for decompensating liver cirrhosis.Patients with cirrhosis are susceptible to developing AKI because of the progressive vasodilatory state,reduced effective blood volume and stimulation of vasoconstrictor hormones.The most common causes of AKI in cirrhosis are pre-renal azotemia,hepatorenal syndrome and acute tubular necrosis.Differential diagnosis is based on analysis of circumstances of AKI development,natriuresis,urine osmolality,response to withdrawal of diuretics and volume repletion,and rarely on renal biopsy.Chronic glomeruIonephritis and obstructive uropathy are rare causes of azotemia in cirrhotic patients.AKI is one of the last events in the natural history of chronic liver disease,therefore,such patients should have an expedited referral for liver transplantation.Hepatorenal syndrome (HRS) is initiated by progressive portal hypertension,and may be prematurely triggered by bacterial infections,nonbacterial systemic inflammatory reactions,excessive diuresis,gastrointestinal hemorrhage,diarrhea or nephrotoxic agents.Each type of renal disease has a specific treatment approach ranging from repletion of the vascular system to renal replacement therapy.The treatment of choice in type 1 hepatorenal syndrome is a combination of vasoconstrictor with albumin infusion,which is effective in about 50% of patients.The second-line treatment of HRS involves a transjugular intrahepatic portosystemic shunt,renal vasoprotection or systems of artificial liver support.

  1. Chronic Obstructive Pulmonary Disease (COPD) Includes: Chronic Bronchitis and Emphysema

    Science.gov (United States)

    ... Obstructive Pulmonary Disease (COPD) Includes: Chronic Bronchitis and Emphysema Recommend on Facebook Tweet Share Compartir Data are ... of adults who have ever been diagnosed with emphysema: 3.4 million Percent of adults who have ...

  2. Anemia of Inflammation and Chronic Disease

    Science.gov (United States)

    ... Disease Organizations (PDF, 270 KB). Alternate Language URL Anemia of Inflammation and Chronic Disease Page Content On ... Nutrition Points to Remember Clinical Trials What is anemia? Anemia is a condition in which a person ...

  3. Chronic Liver Disease and Hispanic Americans

    Science.gov (United States)

    ... Program Grants Other Grants Planning and Evaluation Grantee Best Practices Hispanic/Latino Asthma Cancer Chronic Liver Disease Diabetes Heart Disease Hepatitis HIV/AIDS Immunizations Infant Heath & Mortality Mental Health Obesity Organ and Tissue Donation Stroke Stay Connected ...

  4. 138 Transmission Pattern and Carriers Identification in Male Patients with Chronic Granulomatous Disease

    OpenAIRE

    Lizbeth, Blancas-Galicia; Berrón-Ruiz, Laura; Andrea, Morin-Contreras; Marco Antonio, Yamazaki-Nakashimada; Espinosa-Rosales, Francisco

    2012-01-01

    Background To identify the pattern of transmission in male CGD patients and the CGD X-linked carriers among their female relatives. Methods Through the 123 Dihydrorodamine assay in blood samples of the female relatives of CGD patients we identified a positive bimodal pattern in each woman. A positive bimodal pattern reveled 2 points, first, that the pattern of transmission in the patients was X-linked, second, that the woman was a carrier. Results We analyzed 59 female relatives of 18 male CG...

  5. Granulomatous interstitial nephritis

    OpenAIRE

    Shah, Shivani; Carter-Monroe, Naima; Atta, Mohamed G.

    2015-01-01

    Granulomatous interstitial nephritis (GIN) is a rare entity detected in ∼0.5–0.9% of all renal biopsies. GIN has been linked to several antibiotics such as cephalosporins, vancomycin, nitrofurantoin and ciprofloxacin. It is also associated with NSAIDs and granulomatous disorders such as sarcoidosis, tuberculosis, fungal infections, and granulomatosis with polyangiitis. Renal biopsy is critical in establishing this diagnosis, and the extent of tubular atrophy and interstitial fibrosis may aid ...

  6. Current Treatment of Chronic Beryllium Disease

    OpenAIRE

    Sood, Akshay

    2009-01-01

    The current mainstay of management of chronic beryllium disease involves cessation of beryllium exposure and use of systemic corticosteroids. However, there are no randomized controlled trials to assess the effect of these interventions on the natural history of this disease. Despite this limitation, it is prudent to remove patients with chronic beryllium disease from further exposure and consider treating progressive disease early with long-term corticosteroids. The effect of treatment shoul...

  7. Controversies in Chronic Kidney Disease Staging

    OpenAIRE

    Polkinghorne, Kevan R

    2011-01-01

    In 2002, a new chronic kidney disease staging system was developed by the US National Kidney Foundation. The classification system represented a new conceptual framework for the diagnosis of chronic kidney disease (moving to a schema based on disease severity defined by the glomerular filtration rate). While the introduction of the staging system stimulated significant clinical and research interest in kidney disease, there has been vigorous debate on its merits. This mini-review aims to summ...

  8. Is acute recurrent pancreatitis a chronic disease?

    OpenAIRE

    Mariani, Alberto; Testoni, Pier Alberto

    2008-01-01

    Whether acute recurrent pancreatitis is a chronic disease is still debated and a consensus is not still reached as demonstrated by differences in the classification of acute recurrent pancreatitis. There is major evidence for considering alcoholic pancreatitis as a chronic disease ab initio while chronic pancreatitis lesions detectable in biliary acute recurrent pancreatitis (ARP) seem a casual association. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, hereditary a...

  9. Osteoporosis in chronic obstructive pulmonary disease patients

    DEFF Research Database (Denmark)

    Jørgensen, Niklas Rye; Schwarz, Peter

    2008-01-01

    The purpose of this review is to examine the state of knowledge and clinical practice in the association of chronic obstructive pulmonary disease to osteoporosis and fracture incidence.......The purpose of this review is to examine the state of knowledge and clinical practice in the association of chronic obstructive pulmonary disease to osteoporosis and fracture incidence....

  10. Dexamethasone-induced recrudescence of malignant catarrhal fever and associated lymphosarcoma and granulomatous disease in a Formosan sika deer (Cervus nippon taiouanus).

    Science.gov (United States)

    Heuschele, W P; Nielsen, N O; Oosterhuis, J E; Castro, A E

    1985-07-01

    Malignant catarrhal fever (MCF) was diagnosed in a 2-week-old Formosan sika deer. The fawn had been previously exposed to a clinically normal neonatal wildebeest calf from which alcelaphine herpesvirus-1 was isolated. Alcelaphine herpesvirus-1 was isolated from buffy coat leukocytes and nasal and ocular secretions of the fawn during the acute illness. The fawn clinically recovered after 3 weeks. Virus was not recovered from blood at this time. Dexamethasone, given 4 months after clinical recovery, resulted in reisolation of MCF virus from blood and recrudescence of clinical MCF. The deer was euthanatized. At necropsy, pathognomonic lesions of MCF, granulomatous disease, and malignant lymphoma were observed. Antibodies to bovine leukosis viral antigens were not detected in the serum. The epidemiologic and pathogenetic importance of the findings are discussed. PMID:3839641

  11. Idiopathic granulomatous mastitis masquerading as carcinoma of the breast: a case report and review of the literature

    OpenAIRE

    Tuli, Richard; O'Hara, Brian J; Hines, Janet; Rosenberg, Anne L.

    2007-01-01

    Background Idiopathic granulomatous mastitis is an uncommon, benign entity with a diagnosis of exclusion. The typical clinical presentation of idiopathic granulomatous mastitis often mimics infection or malignancy. As a result, histopathological confirmation of idiopathic granulomatous mastitis combined with exclusion of infection, malignancy and other causes of granulomatous disease is absolutely necessary. Case Presentation We present a case of a young woman with idiopathic granulomatous ma...

  12. Endothelial Dysfunction in Chronic Inflammatory Diseases

    OpenAIRE

    Steyers, Curtis M.; Miller, Francis J.

    2014-01-01

    Chronic inflammatory diseases are associated with accelerated atherosclerosis and increased risk of cardiovascular diseases (CVD). As the pathogenesis of atherosclerosis is increasingly recognized as an inflammatory process, similarities between atherosclerosis and systemic inflammatory diseases such as rheumatoid arthritis, inflammatory bowel diseases, lupus, psoriasis, spondyloarthritis and others have become a topic of interest. Endothelial dysfunction represents a key step in the initiati...

  13. Etiologies of chronic liver disease in children

    Directory of Open Access Journals (Sweden)

    Farahmand F

    2001-11-01

    Full Text Available Chronic Liver diseases in children is the result of many different diseases including: metabolic, genetic, infectious, toxic and idiopathic causes. This was a case series study on 133 infants and children with age range 6 month to 12 years old, who presented clinically with manifestation of chronic liver disease and were admitted to Children Hospital Medical Center from year 1999 to 2000. In this study, 32 (24.5 percent patients had autoimmune chronic hepatitis, 15 (11.3 percent Glycogen storage diseases, 12 (9 percent extrahepatic biliary atresia, 11 (8.2 percent willson disease, 10 (7.5 percent cryptogenic cirrhosis, 6 (4.5 percent chronic hepatitis C, 5 (3.8 percen chronic hepatitic B, 5 (3.8 percent galactosemia 3 (2.25 percent congenital hepatic fibrosis, 3 (3.8 percent histiocytosis X, 3 (2.25 percent sclerosing cholangitis, 2 (1.5 percent byler’s disease 2 (1.5 percent primary tuberculosis, 1 (0.75 percent choledocalcyst, 1 (0.75 percent Alagyle syndrome. According to our data, chronic liver disease should be considered in infants and children. In our study, the most common causes are found to be: metabolic and genetic diseases (37.5 percent, chronic autoimmune hepatitis (24 percent and biliary disorders (14 percent, that encompass 86 percent of the patients.

  14. Imaging in Chronic Kidney Disease.

    Science.gov (United States)

    Meola, Mario; Samoni, Sara; Petrucci, Ilaria

    2016-01-01

    Chronic kidney disease (CKD) diagnosis and staging are based on estimated or calculated glomerular filtration rate (GFR), urinalysis and kidney structure at renal imaging techniques. Ultrasound (US) has a key role in evaluating both morphological changes (by means of B-Mode) and patterns of vascularization (by means of color-Doppler and contrast-enhanced US), thus contributing to CKD diagnosis and to the follow-up of its progression. In CKD, conventional US allows measuring longitudinal diameter and cortical thickness and evaluating renal echogenicity and urinary tract status. Maximum renal length is usually considered a morphological marker of CKD, as it decreases contemporarily to GFR, and should be systematically recorded in US reports. More recently, it has been found to be a significant correlation of both renal longitudinal diameter and cortical thickness with renal function. Conventional US should be integrated by color Doppler, which shows parenchymal perfusion and patency of veins and arteries, and by spectral Doppler, which is crucial for the diagnosis of renal artery stenosis and provides important information about intrarenal microcirculation. Different values of renal resistive indexes (RIs) have been associated with different primary diseases, as they reflect vascular compliance. Since RIs significantly correlate with renal function, they have been proposed to be independent risk factors for CKD progression, besides proteinuria, low GFR and arterial hypertension. Despite several new applications, US and color Doppler contribute to a definite diagnosis in <50% of cases of CKD, because of the lack of specific US patterns, especially in cases of advanced CKD. However, US is useful to evaluate CKD progression and to screen patients at risk for CKD. The indications and the recommended frequency of color Doppler US could differ in each case and the follow-up should be tailored. PMID:27170301

  15. Caregiver Burden in Chronic Diseases

    Directory of Open Access Journals (Sweden)

    Murat Ilhan Atagun

    2011-09-01

    Full Text Available Duration of human life has been substantially increased in the last fifty years. Survivals of diseases have been prolonged through the advances in medicine. Together with these gratifying consequences, there appeared novel difficulties to cope with. Furthermore developments including globalization, industrialization and transition from rural to urban life occurred during the last century; so family units became smaller and numbers of members on employment in family units increased. As a result numbers of family members to undertake the responsibility of care decreased. As a concept, caregiver burden expresses physical, psychosocial and financial reactions during the course of care providing. Distinct factors including structures of social, cultural and family units and health care systems may affect conditions of care. Caregiver’s age, gender, ethnicity, education, relationship with the patient, attitude towards providing care, financial situation, coping abilities, her own health, beliefs, social support and cultural pattern are the personal factors that are related to perception of caregiver burden. Burden of care giving is geared to differential aspects of care needs. For instance care needs of physically disabled and medical care requiring patients with spinal cord injuries may differ from care needs of chronic psychiatric disorders, demented patients in advanced age of their lives or cancer patients in terminal periods. Strain due to care giving may differ as a result of properties of care demands. It is aimed to review the burden of caregivers in different medical and psychiatric care requiring conditions and to introduce differential aspects of caregiver burden in these different conditions.

  16. HIV/AIDS, chronic diseases and globalisation

    OpenAIRE

    Colvin Christopher J

    2011-01-01

    Abstract HIV/AIDS has always been one of the most thoroughly global of diseases. In the era of widely available anti-retroviral therapy (ART), it is also commonly recognised as a chronic disease that can be successfully managed on a long-term basis. This article examines the chronic character of the HIV/AIDS pandemic and highlights some of the changes we might expect to see at the global level as HIV is increasingly normalised as "just another chronic disease". The article also addresses the ...

  17. Neurohumoral fluid regulation in chronic liver disease

    DEFF Research Database (Denmark)

    Møller, Søren; Henriksen, Jens Henrik

    1998-01-01

    regulation are outlined in order to provide an update of recent investigations on the neuroendocrine compensation of circulatory and volume dysfunction in chronic liver disease. The underlying pathophysiology is a systemic vasodilatation in which newly described potent vasoactive substances such as nitric...... and lungs. It is still an enigma why patients with chronic liver disease are at the same time overloaded and functional hypovolaemic with a hyperdynamic, hyporeactive circulation. Further research is needed to find the solution to this apparent haemodynamic conflict concerning the abnormal...... neurohumoral fluid regulation in chronic liver disease....

  18. HIV/AIDS, chronic diseases and globalisation

    Directory of Open Access Journals (Sweden)

    Colvin Christopher J

    2011-08-01

    Full Text Available Abstract HIV/AIDS has always been one of the most thoroughly global of diseases. In the era of widely available anti-retroviral therapy (ART, it is also commonly recognised as a chronic disease that can be successfully managed on a long-term basis. This article examines the chronic character of the HIV/AIDS pandemic and highlights some of the changes we might expect to see at the global level as HIV is increasingly normalised as "just another chronic disease". The article also addresses the use of this language of chronicity to interpret the HIV/AIDS pandemic and calls into question some of the consequences of an uncritical acceptance of concepts of chronicity.

  19. HIV/AIDS, chronic diseases and globalisation.

    Science.gov (United States)

    Colvin, Christopher J

    2011-01-01

    HIV/AIDS has always been one of the most thoroughly global of diseases. In the era of widely available anti-retroviral therapy (ART), it is also commonly recognised as a chronic disease that can be successfully managed on a long-term basis. This article examines the chronic character of the HIV/AIDS pandemic and highlights some of the changes we might expect to see at the global level as HIV is increasingly normalised as "just another chronic disease". The article also addresses the use of this language of chronicity to interpret the HIV/AIDS pandemic and calls into question some of the consequences of an uncritical acceptance of concepts of chronicity. PMID:21871074

  20. Is acute recurrent pancreatitis a chronic disease?

    Institute of Scientific and Technical Information of China (English)

    Alberto Mariani; Pier Alberto Testoni

    2008-01-01

    Whether acute recurrent pancreaUtis is a chronic disease is still debated and a consensus is not still reached as demonstrated by differences in the classification of acute recurrent pancreatitis.There is major evidence for considering alcoholic pancreatitis as a chronic disease ab initio while chronic pancreatitis lesions detectable in biliary acute recurrent pancreatitis (ARP) seem a casual association.Cystic fibrosis transmembrane con ductance regulator (CFTR) gene mutation,hereditary and obstructive pancreatitis seem an acute disease that progress to chronic pancreatitis,likely as a consequence of the activation and proliferation of pancreatic stellate cells that produce and activate collagen and therefore fibrosis.From the diagnostic point of view,in patients with acute recurrent pancreatitis Endoscopic ultrasound (EUS) seems the more reliable technique for an accurate evaluation and follow-up of some ductal and parenchymal abnormalities suspected for early chronic pancreatitis.

  1. A Review of Pediatric Chronic Kidney Disease.

    Science.gov (United States)

    Kaspar, C D W; Bholah, R; Bunchman, T E

    2016-01-01

    Chronic kidney disease is complex in both adults and children, but the disease is far from the same between these populations. Here we review the marked differences in etiology, comorbidities, impact of disease on growth and quality of life, issues unique to adolescents and transitions to adult care, and special considerations of congenital kidney and urinary tract anomalies for transplantation. PMID:26766175

  2. Anemia of Inflammation and Chronic Disease

    Science.gov (United States)

    ... its red color and lets red blood cells transport oxygen from the lungs to the body’s tissues. ... Chronic Disease • diabetes, in which levels of blood glucose, also called blood sugar, are above normal • heart ...

  3. Percutaneous Nephrolithotomy and Chronic Kidney Disease

    DEFF Research Database (Denmark)

    Sairam, Krish; Scoffone, Cesare M; Alken, Peter;

    2012-01-01

    glomerular filtration rate, including chronic kidney disease stages 0/I/II-greater than 60, stage III-30 to 59 and stages IV/V-less than 30 ml/minute/1.73 m(2). Patient characteristics, operative characteristics, outcomes and morbidity were assessed. RESULTS: Estimated glomerular filtration rate data were...... available on 5,644 patients, including 4,436 with chronic kidney disease stages 0/I/II, 994 with stage III and 214 with stages IV/V. A clinically significant minority of patients with nephrolithiasis presented with severe chronic kidney disease. A greater number of patients with stages IV/V previously...... underwent percutaneous nephrolithotomy, ureteroscopy or nephrostomy and had positive urine cultures than less severely affected patients, consistent with the higher incidence of staghorn stones in these patients. Patients with chronic kidney disease stages IV/V had statistically significantly worse...

  4. Sexuality and Chronic Kidney Disease

    Science.gov (United States)

    ... and erection difficulties. Therapy also can help a person work through the effects of chronic illness on sexual functioning. A sex therapist can be a psychiatrist, psychologist, physician, or social ...

  5. COPD (Chronic Obstructive Pulmonary Disease)

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is COPD? Español COPD, or chronic obstructive pulmonary (PULL-mun- ... can clog them. Normal Lungs and Lungs With COPD Figure A shows the location of the lungs ...

  6. Chronic obstructive pulmonary disease : a proteomics approach

    OpenAIRE

    Alexandre, Bruno Miguel Coelho, 1980-

    2011-01-01

    Tese de doutoramento, Biologia (Biologia Molecular), Universidade de Lisboa, Faculdade de Ciências, 2012 Chronic obstructive pulmonary disease (COPD) is characterized by chronic airflow limitation that is not fully reversible even under bronchodilators effect, caused by a mixture of small airway disease – obstructive bronchiolitis – and parenchymal destruction – emphysema. At the present time, COPD is the fourth leading cause of death and its prevalence and mortality are expected to contin...

  7. Asthma and chronic obstructive pulmonary disease overlap: asthmatic chronic obstructive pulmonary disease or chronic obstructive asthma?

    Science.gov (United States)

    Slats, Annelies; Taube, Christian

    2016-02-01

    Asthma and chronic obstructive pulmonary disease (COPD) are different disease entities. They are both clinical diagnoses, with diagnostic tools to discriminate between one another. However, especially in older patients (>55 years) it seems more difficult to differentiate between asthma and COPD. This has led to the definition of a new phenotype called asthma COPD overlap syndrome (ACOS). However, our understanding of ACOS is at a very preliminary stage, as most research has involved subjects with existing diagnoses of asthma or COPD from studies with different definitions for ACOS. This has led to different and sometimes opposing results between studies on several features of ACOS, also depending on the comparison with COPD alone, asthma alone or both, which are summarized in this review.We suggest not using the term ACOS for a patient with features of both asthma and COPD, but to describe a patient with chronic obstructive airway disease as completely as possible, with regard to characteristics that determine treatment response (e.g. eosinophilic inflammation) and prognosis (such as smoking status, exacerbation rate, fixed airflow limitation, hyperresponsiveness, comorbidities). This will provide a far more clinically relevant diagnosis, and would aid in research on treatment in more homogenous groups of patients with chronic airways obstruction. More research is certainly needed to develop more evidence-based definitions for this patient group and to evaluate biomarkers, which will help to further classify these patients, treat them more adequately and unravel the underlying pathophysiological mechanism. PMID:26596632

  8. Pneumocystis jirovecii colonization in chronic pulmonary disease

    Directory of Open Access Journals (Sweden)

    Gutiérrez S.

    2011-05-01

    Full Text Available Pneumocystis jirovecii causes pneumonia in immunosuppressed individuals. However, it has been reported the detection of low levels of Pneumocystis DNA in patients without signs and symptoms of pneumonia, which likely represents colonization. Several studies performed in animals models and in humans have demonstrated that Pneumocystis induces a local and a systemic response in the host. Since P. jirovecii colonization has been found in patients with chronic pulmonary diseases it has been suggested that P. jirovecii may play a role in the physiopathology and progression of those diseases. In this report we revise P. jirovecii colonization in different chronic pulmonary diseases such us, chronic obstructive pulmonary disease, interstitial lung diseases, cystic fibrosis and lung cancer.

  9. Chronic Kidney Disease and Its Complications

    OpenAIRE

    Thomas, Robert; Kanso, Abbas; Sedor, John R

    2008-01-01

    Chronic kidney disease (CKD) is a complex disease impacting more than twenty million individuals in the United States. Progression of CKD is associated with a number of serious complications, including increased incidence of cardiovascular disease, hyperlipidemia, anemia and metabolic bone disease. CKD patients should be assessed for the presence of these complications and receive optimal treatment to reduce their morbidity and mortality. A multidisciplinary approach is required to accomplish...

  10. Circulating Adipocytokines and Chronic Kidney Disease

    OpenAIRE

    Mills, Katherine T.; L Lee Hamm; A Brent Alper; Chad Miller; Alhakam Hudaihed; Saravanan Balamuthusamy; Chung-Shiuan Chen; Yanxi Liu; Joseph Tarsia; Nader Rifai; Myra Kleinpeter; Jiang He; Jing Chen

    2013-01-01

    BACKGROUND: Adipokines have been associated with atherosclerotic heart disease, which shares many common risk factors with chronic kidney disease (CKD), but their relationship with CKD has not been well characterized. METHODS: We investigated the association of plasma leptin, resistin and adiponectin with CKD in 201 patients with CKD and 201 controls without. CKD was defined as estimated glomerular filtration rate (eGFR)

  11. The Western Diet and Chronic Kidney Disease.

    Science.gov (United States)

    Hariharan, Divya; Vellanki, Kavitha; Kramer, Holly

    2015-03-01

    Characteristics of the Western diet that fueled the obesity epidemic may also impact kidney disease incidence and progression. Enlarging portion sizes over the past half century has been accompanied by increased intake of protein, sodium, and processed foods while consumption of fruits and vegetables has declined. Overall dietary patterns play a strong role for chronic disease risk including chronic kidney disease. While dietary patterns high in fresh fruits and vegetables and low in red meats, such as the Mediterranean diet, decrease the risk of chronic diseases, the Western diet, characterized by high intake of red meat, animal fat, sweets, and desserts and low intake of fresh fruits and vegetables and low-fat dairy products, increases risk of chronic diseases. In this article, we review the potential mechanisms whereby several key characteristics of the typical Western diet may impact kidney disease incidence and progression. We also discuss a public health policy initiative to improve dietary choices. Reducing protein intake to the recommended daily allowance of 0.8 g/kg/day and increasing intake of fruit and vegetables and fiber may mitigate kidney disease progression and reduce risk of cardiovascular disease and mortality. PMID:25754321

  12. Chronic Wasting Disease Agents in Nonhuman Primates

    OpenAIRE

    Race, Brent; Meade-White, Kimberly D.; Phillips, Katie; Striebel, James; Race, Richard; Chesebro, Bruce

    2014-01-01

    Chronic wasting disease is a prion disease of cervids. Assessment of its zoonotic potential is critical. To evaluate primate susceptibility, we tested monkeys from 2 genera. We found that 100% of intracerebrally inoculated and 92% of orally inoculated squirrel monkeys were susceptible, but cynomolgus macaques were not, suggesting possible low risk for humans.

  13. Chronic pulmonary disease - a multifacted disease complex in the horse

    International Nuclear Information System (INIS)

    This paper reviews chronic pulmonary disease (CPD) as an insidiously developing disease capable of being manifest in many degrees. Horses may suffer mild, sub-clinical degrees of lower respiratory tract inflammation or small airway disease withouth showing symptoms at rest. This form of disease becomes manifest as poor performance when these horses take part in athletic competition. Factors relating to the aetiology, diagnosis, treatment and prevention of all degrees of small airway disease of horses are discussed. 30 refs

  14. Cardiovascular disease in patients with chronic kidney disease

    OpenAIRE

    Julian Wright; Alastair Hutchison

    2009-01-01

    Julian Wright, Alastair HutchisonManchester Institute of Nephrology and Transplantation, Manchester Royal Infirmary, Manchester, UKAbstract: Patients with chronic kidney disease have a high burden of cardiovascular morbidity and mortality. The vast majority of patients with chronic kidney disease do not progress to end stage renal failure, but do have a significantly higher incidence of all cardiovascular co-morbidities. Traditional cardiovascular risk factors only partially account for this ...

  15. Dynamic Adaptive Remote Health Monitoring for Patients with Chronic Disease

    OpenAIRE

    Suh, Myung-kyung

    2012-01-01

    Chronic diseases are the leading causes of death and disability in the United States. More than 70% of deaths among Americans are caused by chronic diseases and more than 133 million Americans have at least one chronic disease. Due to the prevalence of chronic disease-related issues, it is prudent to seek out methodologies that would facilitate the prevention, monitoring, and feedback for patients with chronic diseases.This dissertation describes WANDA (Weight and Activity with Other Vital Si...

  16. Exploring metabolic dysfunction in chronic kidney disease

    OpenAIRE

    Slee Adrian D

    2012-01-01

    Abstract Impaired kidney function and chronic kidney disease (CKD) leading to kidney failure and end-stage renal disease (ESRD) is a serious medical condition associated with increased morbidity, mortality, and in particular cardiovascular disease (CVD) risk. CKD is associated with multiple physiological and metabolic disturbances, including hypertension, dyslipidemia and the anorexia-cachexia syndrome which are linked to poor outcomes. Specific hormonal, inflammatory, and nutritional-metabol...

  17. Relationship between acute and chronic disease epidemiology.

    OpenAIRE

    Kuller, L.H. (Lewis H.)

    1987-01-01

    Epidemiology is the study of epidemics. The primary goal of epidemiological studies should be the identification of the determinants of disease in order to decrease morbidity and mortality. Epidemiological studies evolve through descriptive, analytical, and experimental approaches. The traditional infectious disease epidemiology studies were primarily concerned with identification of an agent, incubation period, mode of transmission, population at risk, and methods of disease control. Chronic...

  18. Diphenylhydantoin (phenytoin)-induced chronic pulmonary disease

    OpenAIRE

    Dixit Ramakant; Dixit Kalpana; Nuwal Paras; Banerjee Arunima; Sharma Sidharth; Dave Lokendra

    2009-01-01

    Drug-induced respiratory diseases are difficult to diagnose and therefore usually not identified, probably underestimated and under-reported. We report a case of diphenylhydantoin/phenytoin-induced chronic pulmonary disease in a 62-year-old male patient presenting with progressive dyspnea, eosinophilia, and pulmonary abnormalities. The importance of drug history in clinical history-taking and early diagnosis of drug-induced respiratory diseases is emphasized so as to prevent permanent pulmona...

  19. Diphenylhydantoin (phenytoin-induced chronic pulmonary disease

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2009-01-01

    Full Text Available Drug-induced respiratory diseases are difficult to diagnose and therefore usually not identified, probably underestimated and under-reported. We report a case of diphenylhydantoin/phenytoin-induced chronic pulmonary disease in a 62-year-old male patient presenting with progressive dyspnea, eosinophilia, and pulmonary abnormalities. The importance of drug history in clinical history-taking and early diagnosis of drug-induced respiratory diseases is emphasized so as to prevent permanent pulmonary damage.

  20. Natural Histories of Chronic Obstructive Pulmonary Disease

    OpenAIRE

    Rennard, Stephen I.; Vestbo, Jørgen

    2008-01-01

    Concepts relating to the natural history of chronic obstructive pulmonary disease (COPD) arise most importantly from the classic study of Fletcher and colleagues (The Natural History of Chronic Bronchitis and Emphysema, Oxford University Press, New York, 1976). This study, which evaluated working English men over 8 years, was used to construct a proposed life-long natural history. Although this is a classic study that has greatly advanced understanding of COPD, it has a number of limitations....

  1. Disease: H00098 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00098 Chronic granulomatous disease, including the following four diseases: X-link...65 Kumar A, Teuber SS, Gershwin ME. Current perspectives on primary immunodeficiency diseases. Clin Dev Immu...ifman C, Seger R, Wedgwood J. Primary immunodeficiency diseases: an update from the International Union of I

  2. Framing international trade and chronic disease

    Directory of Open Access Journals (Sweden)

    Mohindra Katia S

    2011-07-01

    Full Text Available Abstract There is an emerging evidence base that global trade is linked with the rise of chronic disease in many low and middle-income countries (LMICs. This linkage is associated, in part, with the global diffusion of unhealthy lifestyles and health damaging products posing a particular challenge to countries still facing high burdens of communicable disease. We developed a generic framework which depicts the determinants and pathways connecting global trade with chronic disease. We then applied this framework to three key risk factors for chronic disease: unhealthy diets, alcohol, and tobacco. This led to specific 'product pathways', which can be further refined and used by health policy-makers to engage with their country's trade policy-makers around health impacts of ongoing trade treaty negotiations, and by researchers to continue refining an evidence base on how global trade is affecting patterns of chronic disease. The prevention and treatment of chronic diseases is now rising on global policy agendas, highlighted by the UN Summit on Noncommunicable Diseases (September 2011. Briefs and declarations leading up to this Summit reference the role of globalization and trade in the spread of risk factors for these diseases, but emphasis is placed on interventions to change health behaviours and on voluntary corporate responsibility. The findings summarized in this article imply the need for a more concerted approach to regulate trade-related risk factors and thus more engagement between health and trade policy sectors within and between nations. An explicit recognition of the role of trade policies in the spread of noncommunicable disease risk factors should be a minimum outcome of the September 2011 Summit, with a commitment to ensure that future trade treaties do not increase such risks.

  3. Granulomatous dysimmune reactions (sarcoidosis, granuloma annulare, and others) on differently injured skin areas.

    Science.gov (United States)

    Lo Schiavo, Ada; Ruocco, Eleonora; Gambardella, Alessio; O'Leary, Ryan E; Gee, Sarah

    2014-01-01

    Granulomatous disorders are chronic cell-mediated immune responses histologically characterized by collections of macrophages, epithelioid cells, and multinucleated giant cells. This disease spectrum often has an infectious origin, but sometimes neither an infective agent nor an inciting antigenic stimulus can be identified. The skin may be a preferential target for these disorders, especially in the areas that have been damaged by various forms of skin injury (eg, herpetic infections, trauma, thermal or solar burns, vaccinations, tattoos). These damaged skin sites frame the new concept of an immunocompromised cutaneous district (ICD), which defines a skin area with acquired immune dysregulation that can pave the way for the local onset of opportunistic disorders, such as infections, tumors, and granulomatous disorders. Sarcoidosis, granuloma annulare (GA), and forms of granulomatous vasculitis, such as Churg-Strauss syndrome (CSS) and Wegener's granulomatosis (WG), are the most common granulomatous disorders that occur in an ICD and may share common pathogenic mechanisms. Recent studies have found clinical and pathologic overlapping features across noninfectious granulomas. Although no unifying etiology exists, the development of granulomatous processes in the ICD has often been reported and the literature contains various hypotheses to explain it: (1) overactive immune response in a previously injured region with or without loss of immune tolerance; (2) overall reduced immune response; (3) retention of an exogeneous antigen or foreign body; (4) altered neural signaling; and (5) a combination of all the aforementioned processes. T helper cells, T regulatory cells, and macrophages, as well as a number of antigenic proteins, have been identified as potential contributing factors. In addition, a genetic predisposition and an intact systemic immune system are both instrumental for the persistence of local granuloma formation in the ICD. PMID:25160106

  4. A Case of H. pylori-associated Granulomatous Gastritis with Hypertrophic Gastropathy

    OpenAIRE

    Kim, Yeon Soo; Lee, Hye Kyung; Kim, Jong Ok; Lee, Seung Woo; Kang, Sang Beom; Nam, Soon Woo; Lee, Dong Soo

    2009-01-01

    A 46-year-old man had chronic granulomatous gastritis characterized by giant gastric folds with noncaseating epithelioid granulomas including giant cells in the corpus. No definite etiologic factors were detected. Histology and the rapid urease test indicated that H. pylori was present in both the antrum and corpus. The granulomatous gastritis with giant gastric folds improved after H. pylori eradication. This case suggests an association between isolated granulomatous gastritis and H. pylori...

  5. Chronic Disease Cost not Transferable: Colombian Reality

    Directory of Open Access Journals (Sweden)

    Karina Gallardo Solarte

    2016-01-01

    Full Text Available Objective: The aim is to reflect on the social and economic costs of chronic non-communicable disease (NCD in Colombia to display a charging indicator of these pathologies. Material and methods: In a review of 50 studies, 27 were selected since these met the inclusion criteria, like chronical disease, studies conducted between 2002 and 2011 related to costs, chronic disease, and being Colombian. Results: This is a review study of chronic diseases vs. their costs, being here cardiovascular diseases part of the group of high cost and higher incidence diseases, thus repre­senting a great risk to the financial stability of healthcare companies. There are few studies that address the costs generated by the treatment of ncds patients that show the economic impact experienced by public and private institutions providing and promoting health services. Most of them forget the economic, family and social costs the affected population must suffer. Conclu­sions: ncds represent a burden to the health service system for their very high costs, untimely intervention and reduced significant benefit for this population and their families.

  6. Management of Pruritus in Chronic Liver Disease

    Directory of Open Access Journals (Sweden)

    Angeline Bhalerao

    2015-01-01

    Full Text Available Background. There continues to be uncertainty on the ideal treatment of pruritus in chronic liver disease. The aim of this study was to gather the latest information on the evidence-based management of pruritus in chronic liver disease. Methodology. A literature search for pruritus in chronic liver disease was conducted using Pubmed and Embase database systems using the MeSH terms “pruritus,” “chronic liver disease,” “cholestatic liver disease,” and “treatment.” Results. The current understanding of the pathophysiology of pruritus is described in addition to detailing research into contemporary treatment options of the condition. These medical treatments range from bile salts, rifampicin, and opioid receptor antagonists to antihistamines. Conclusion. The burden of pruritus in liver disease patients persists and, although it is a common symptom, it can be difficult to manage. In recent years there has been greater study into the etiology and treatment of the condition. Nonetheless, pruritus remains poorly understood and many patients continue to suffer, reiterating the need for further research to improve our understanding of the etiology and treatment for the condition.

  7. Chronic Diseases and Health Promotion

    Science.gov (United States)

    ... GA: Centers for Disease Control and Prevention, US Dept. of Health and Human Services; 2013. http://www.cdc.gov/nutrition/downloads/State-Indicator-Report-Fruits-Vegetables-2013.pdf. [PDF - 4. ...

  8. Chronic Obstructive Pulmonary Disease (COPD)

    Science.gov (United States)

    ... learn about your disease, receive counseling, and create exercise and eating plans tailored to your needs. Surgery: Rarely, patients who have very serious COPD may benefit from surgery. They might have a lung reduction ...

  9. Quality of life in chronic disease patients

    Directory of Open Access Journals (Sweden)

    Kalliopi Megari

    2013-09-01

    Full Text Available During the past decades there was an increasing predominance of chronic disorders, with a large number of people living with chronic diseases that can adversely affect their quality of life. The aim of the present paper is to study quality of life and especially Health-related quality of life (HRQoL in chronic diseases. HRQOL is a multidimensional construct that consists of at least three broad domains − physical, psychological, and social functioning − that are affected by one’s disease and/or treatment. HRQoL is usually measured in chronic conditions and is frequently impaired to a great extent. In addition, factors that are associated with good and poor HRQoL, as well as HRQoL assessment will be discussed. The estimation of the relative impact of chronic diseases on HRQoL is necessary in order to better plan and distribute health care resources aiming at a better HRQoL.[«All the people perceive the concept of living good or being well, that is the same as being happy». (Aristotle. 384-322 BC. Ethica Nichomachea

  10. Chronic obstructive pulmonary disease and cancer risk

    DEFF Research Database (Denmark)

    Kornum, Jette Brommann; Sværke, Claus; Thomsen, Reimar Wernich; Lange, Peter; Sørensen, Henrik Toft

    2012-01-01

    Little is known about the risk of cancer in patients with chronic obstructive pulmonary disease (COPD), including which cancer sites are most affected. We examined the short- and long-term risk of lung and extrapulmonary cancer in a nationwide cohort of COPD patients.......Little is known about the risk of cancer in patients with chronic obstructive pulmonary disease (COPD), including which cancer sites are most affected. We examined the short- and long-term risk of lung and extrapulmonary cancer in a nationwide cohort of COPD patients....

  11. Granulomatous mastitis: radiological findings

    Energy Technology Data Exchange (ETDEWEB)

    Ozturk, M.; Mavili, E.; Kahriman, G.; Akcan, A.C.; Ozturk, F. [Depts. of Radiology, Surgery, and Pathology, Erciyes Univ. Medical Faculty, Kayseri (Turkey)

    2007-02-15

    Purpose: To evaluate the radiological, ultrasonographic, and magnetic resonance imaging (MRI) findings of idiopathic granulomatous mastitis. Material and Methods: Between April 2002 and June 2005, the mammography, ultrasound, color Doppler ultrasound, non enhanced MR, and dynamic MR findings of nine patients with the preliminary clinical diagnosis of malignancy and the final diagnosis of granulomatous mastitis were evaluated. Results: On mammography, asymmetrical focal densities with no distinct margins, ill-defined masses with spiculated contours, and bilateral multiple ill-defined nodules were seen. On ultrasound, in four patients a discrete, heterogenous hypoechoic mass, in two patients multiple abscesses, in one patient bilateral multiple central hypo peripheral hyperechoic lesions, in two patients heterogeneous hypo- and hyperechoic areas together with parenchymal distortion, and in one patient irregular hypoechoic masses with tubular extensions and abscess cavities were seen. Five of the lesions were vascular on color Doppler ultrasound. On MR mammography, the most frequent finding was focal or diffuse asymmetrical signal intensity changes that were hypointense on T1W images and hyperintense on T2W images, without significant mass effect. Nodular lesions were also seen. On dynamic contrast-enhanced mammography, mass-like enhancement, ring-like enhancement, and nodular enhancement were seen. The time-intensity curves differed from patient to patient and from lesion to lesion. Conclusion: The imaging findings of idiopathic granulomatous mastitis have a wide spectrum, and they are inconclusive for differentiating malignant and benign lesions.

  12. Granulomatous mastitis: radiological findings

    International Nuclear Information System (INIS)

    Purpose: To evaluate the radiological, ultrasonographic, and magnetic resonance imaging (MRI) findings of idiopathic granulomatous mastitis. Material and Methods: Between April 2002 and June 2005, the mammography, ultrasound, color Doppler ultrasound, non enhanced MR, and dynamic MR findings of nine patients with the preliminary clinical diagnosis of malignancy and the final diagnosis of granulomatous mastitis were evaluated. Results: On mammography, asymmetrical focal densities with no distinct margins, ill-defined masses with spiculated contours, and bilateral multiple ill-defined nodules were seen. On ultrasound, in four patients a discrete, heterogenous hypoechoic mass, in two patients multiple abscesses, in one patient bilateral multiple central hypo peripheral hyperechoic lesions, in two patients heterogeneous hypo- and hyperechoic areas together with parenchymal distortion, and in one patient irregular hypoechoic masses with tubular extensions and abscess cavities were seen. Five of the lesions were vascular on color Doppler ultrasound. On MR mammography, the most frequent finding was focal or diffuse asymmetrical signal intensity changes that were hypointense on T1W images and hyperintense on T2W images, without significant mass effect. Nodular lesions were also seen. On dynamic contrast-enhanced mammography, mass-like enhancement, ring-like enhancement, and nodular enhancement were seen. The time-intensity curves differed from patient to patient and from lesion to lesion. Conclusion: The imaging findings of idiopathic granulomatous mastitis have a wide spectrum, and they are inconclusive for differentiating malignant and benign lesions

  13. Mycobacterium-Infected Dendritic Cells Disseminate Granulomatous Inflammation.

    Science.gov (United States)

    Harding, Jeffrey S; Rayasam, Aditya; Schreiber, Heidi A; Fabry, Zsuzsanna; Sandor, Matyas

    2015-01-01

    The disappearance and reformation of granulomas during tuberculosis has been described using PET/CT/X-ray in both human clinical settings and animal models, but the mechanisms of granuloma reformation during active disease remains unclear. Granulomas can recruit inflammatory dendritic cells (iDCs) that can regulate local T-cell responses and can carry bacteria into the lymph nodes, which is crucial for generating systemic T-cell responses against mycobacteria. Here, we report that a subset of mycobacterium-infected iDCs are associated with bacteria-specific T-cells in infected tissue, outside the granuloma, and that this results in the formation of new and/or larger multi-focal lesions. Mycobacterium-infected iDCs express less CCR7 and migrate less efficiently compared to the non-infected iDCs, which may support T-cell capture in granulomatous tissue. Capture may reduce antigen availability in the lymph node, thereby decreasing systemic priming, resulting in a possible regulatory loop between systemic T-cell responses and granuloma reformation. T-cell/infected iDCs clusters outside the granuloma can be detected during the acute and chronic phase of BCG and Mtb infection. Our studies suggest a direct role for inflammatory dendritic cells in the dissemination of granulomatous inflammation. PMID:26515292

  14. Anemia in Chronic Kidney Disease

    Science.gov (United States)

    ... Disease Organizations​​ . (PDF, 345 KB)​​​​​ Alternate Language URL Anemia in CKD Page Content On this page: What ... Nutrition Points to Remember Clinical Trials What is anemia? Anemia is a condition in which the body ...

  15. Adult stem cells for chronic lung diseases.

    Science.gov (United States)

    Mora, Ana L; Rojas, Mauricio

    2013-10-01

    Idiopathic pulmonary fibrosis (IPF) and chronic obstructive pulmonary disease (COPD) are chronic, progressive and lethal lung diseases. The incidence of IPF and COPD increases with age, independent of exposure to common environmental risk factors. At present, there is limited understanding of the relationship between ageing and the development of chronic lung diseases. One hypothesis is that chronic injury drives to exhaustion the local and systemic repair responses in the lung. These changes are accentuated during ageing where there is a progressive accumulation of senescent cells. Recently, stem cells have emerged as a critical reparative mechanism for lung injury. In this review, we discuss the repair response of bone marrow-derived mesenchymal stem cells (B-MSC) after lung injury and how their function is affected by ageing. Our own work has demonstrated a protective role of B-MSC in several animal models of acute and chronic lung injury. We recently demonstrated the association, using animal models, between age and an increase in the susceptibility to develop severe injury and fibrosis. At the same time, we have identified functional differences between B-MSC isolated from young and old animals. Further studies are required to understand the functional impairment of ageing B-MSC, ultimately leading to a rapid stem cell depletion or fatigue, interfering with their ability to play a protective role in lung injury. The elucidation of these events will help in the development of rational and new therapeutic strategies for COPD and IPF. PMID:23648014

  16. Ethical considerations in chronic musculoskeletal disease.

    Science.gov (United States)

    MacKenzie, C Ronald; de Melo-Martin, Inmaculada

    2015-06-01

    Chronic diseases compromise the life of the sufferer, encumber their families, and exert intractable burdens on the health-care system. With the aging of the population, such conditions have become the primary determinants of morbidity and mortality and the leading cause of disability in our society. Despite the serious challenges they impose, the ethical discourse engendered by them has lagged behind that of acute care medicine. Of particular relevance are the challenges to individual autonomy, as the dilemmas arising in the chronic care setting have not only medical but personal and societal dimensions, may require the input of multiple participants, and resolve over longer periods of time. As such, the conventional model of autonomy is often inadequate to address problems in the chronic care setting. This paper deals with this dilemma through an examination of a clinical scenario. A framework for the exploration of ethical problems in the chronic care setting is thus presented. PMID:25864103

  17. Development of Biomarkers for Chronic Beryllium Disease in Mice

    Energy Technology Data Exchange (ETDEWEB)

    Gordon, Terry

    2013-01-25

    Beryllium is a strategic metal, indispensable for national defense programs in aerospace, telecommunications, electronics, and weaponry. Exposure to beryllium is an extensively documented occupational hazard that causes irreversible, debilitating granulomatous lung disease in as much as 3 - 5% of exposed workers. Mechanistic research on beryllium exposure-disease relationships has been severely limited by a general lack of a sufficient CBD animal model. We have now developed and tested an animal model which can be used for dissecting dose-response relationships and pathogenic mechanisms and for testing new diagnostic and treatment paradigms. We have created 3 strains of transgenic mice in which the human antigen-presenting moiety, HLA-DP, was inserted into the mouse genome. Each mouse strain contains HLA-DPB1 alleles that confer different magnitude of risk for chronic beryllium disease (CBD): HLA-DPB1*0401 (odds ratio = 0.2), HLA-DPB1*0201 (odds ratio = 15), HLA-DPB1*1701 (odds ratio = 240). Our preliminary work has demonstrated that the *1701 allele, as predicted by human studies, results in the greatest degree of sensitization in a mouse ear swelling test. We have also completed dose-response experiments examining beryllium-induced lung granulomas and identified susceptible and resistant inbred strains of mice (without the human transgenes) as well as quantitative trait loci that may contain gene(s) that modify the immune response to beryllium. In this grant application, we propose to use the transgenic and normal inbred strains of mice to identify biomarkers for the progression of beryllium sensitization and CBD. To achieve this goal, we propose to compare the sensitivity and accuracy of the lymphocyte proliferation test (blood and bronchoalveolar lavage fluid) with the ELISPOT test in the three HLA-DP transgenic mice strains throughout a 6 month treatment with beryllium particles. Because of the availability of high-throughput proteomics, we will also identify

  18. Microcirculation in Acute and Chronic Kidney Diseases.

    Science.gov (United States)

    Zafrani, Lara; Ince, Can

    2015-12-01

    The renal microvasculature is emerging as a key player in acute and chronic kidney diseases. Renal microvascular disease involves alterations in endothelial barrier permeability, exaggerated inflammation, impairment of endothelium-dependent vasorelaxation involving the nitric oxide system, increased oxidative stress, and loss of angiogenic factors. Moreover, evidence suggests that there is a microvascular component to the pathogenesis of renal scarring. New technology is being developed to explore renal microcirculation in vivo in experimental models and humans. This technology will provide a better understanding of the pathogenesis of kidney diseases and will help guide specific therapeutic strategies aimed at restoring the renal microcirculation. This article reviews the cellular and molecular mechanisms of renal microvascular dysfunction in acute and chronic kidney diseases and the potential diagnostic and therapeutic implications of these findings. Recent developments in the monitoring of renal microcirculation are described with respect to their advantages and limitations, and future directions are outlined. PMID:26231789

  19. CONVENTIONAL RENAL CELL CARCINOMA WITH GRANULOMATOUS REACTION

    Directory of Open Access Journals (Sweden)

    Srinivas

    2014-09-01

    Full Text Available : Granulomatous inflammation is a distinctive pattern of chronic inflammatory reaction characterized by microscopic aggregation of activated macrophages which often develop epithelioid appearance and multinucleate giant cells. Granulomas are encountered in limited number of infectious and some non-infectious conditions. Granulomas have been described within the stroma of malignancies like carcinomas of the breast and colon, seminoma and Hodgkin’s lymphoma, where they represent T-cell-mediated reaction of the tumor stroma to antigens expressed by the tumor. Granulomatous reaction in association with renal cell carcinoma (RCC is uncommon, with only few published reports in the literature. We describe a case of conventional (clear cell RCC associated with epithelioid cell granulomas within the tumor parenchyma.

  20. An Update on Coronary Artery Disease and Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Baris Afsar

    2014-01-01

    Full Text Available Despite the improvements in diagnostic tools and medical applications, cardiovascular diseases (CVD, especially coronary artery disease (CAD, remain the most common cause of morbidity and mortality in patients with chronic kidney disease (CKD. The main factors for the heightened risk in this population, beside advanced age and a high proportion of diabetes and hypertension, are malnutrition, chronic inflammation, accelerated atherosclerosis, endothelial dysfunction, coronary artery calcification, left ventricular structural and functional abnormalities, and bone mineral disorders. Chronic kidney disease is now recognized as an independent risk factor for CAD. In community-based studies, decreased glomerular filtration rate (GFR and proteinuria were both found to be independently associated with CAD. This paper will discuss classical and recent epidemiologic, pathophysiologic, and clinical aspects of CAD in CKD patients.

  1. A Customizable Model for Chronic Disease Coordination: Lessons Learned From the Coordinated Chronic Disease Program

    Science.gov (United States)

    Sequeira, Sonia; Chavez, Amy Holmes

    2016-01-01

    In 2012, the Centers for Disease Control and Prevention provided funding and technical assistance to all states and territories to implement the Coordinated Chronic Disease Program, marking the first time that all state health departments had federal resources to coordinate chronic disease prevention and control programs. This article describes lessons learned from this initiative and identifies key elements of a coordinated approach. We analyzed 80 programmatic documents from 21 states and conducted semistructured interviews with 7 chronic disease directors. Six overarching themes emerged: 1) focused agenda, 2) identification of functions, 3) comprehensive planning, 4) collaborative leadership and expertise, 5) managed resources, and 6) relationship building. These elements supported 4 essential activities: 1) evidence-based interventions, 2) strategic use of staff, 3) consistent communication, and 4) strong program infrastructure. On the basis of these elements and activities, we propose a conceptual model that frames overarching concepts, skills, and strategies needed to coordinate state chronic disease prevention and control programs. PMID:27032986

  2. A Customizable Model for Chronic Disease Coordination: Lessons Learned From the Coordinated Chronic Disease Program.

    Science.gov (United States)

    Voetsch, Karen; Sequeira, Sonia; Chavez, Amy Holmes

    2016-01-01

    In 2012, the Centers for Disease Control and Prevention provided funding and technical assistance to all states and territories to implement the Coordinated Chronic Disease Program, marking the first time that all state health departments had federal resources to coordinate chronic disease prevention and control programs. This article describes lessons learned from this initiative and identifies key elements of a coordinated approach. We analyzed 80 programmatic documents from 21 states and conducted semistructured interviews with 7 chronic disease directors. Six overarching themes emerged: 1) focused agenda, 2) identification of functions, 3) comprehensive planning, 4) collaborative leadership and expertise, 5) managed resources, and 6) relationship building. These elements supported 4 essential activities: 1) evidence-based interventions, 2) strategic use of staff, 3) consistent communication, and 4) strong program infrastructure. On the basis of these elements and activities, we propose a conceptual model that frames overarching concepts, skills, and strategies needed to coordinate state chronic disease prevention and control programs. PMID:27032986

  3. Caregiver Burden in Chronic Diseases

    OpenAIRE

    Murat Ilhan Atagun; Ozlem Devrim Balaban; Zeliha Atagun; Mine Elagoz; Aysegul Yilmaz Ozpolat

    2011-01-01

    Duration of human life has been substantially increased in the last fifty years. Survivals of diseases have been prolonged through the advances in medicine. Together with these gratifying consequences, there appeared novel difficulties to cope with. Furthermore developments including globalization, industrialization and transition from rural to urban life occurred during the last century; so family units became smaller and numbers of members on employment in family units increased. As a resul...

  4. Multiple Bowen's disease in chronic arsenicosis

    Directory of Open Access Journals (Sweden)

    Joydeep Singha

    2014-04-01

    Full Text Available Bowen’s disease is a carcinoma in-situ of skin. It was fi rst described by John T. Bowen. It usually present as a solitary lesion in elderly person over sun-exposed area. A case of multiple Bowen’s disease involving non-sun exposed areas of a person with clinical sign of chronic arsenicosis has been found.Read more....

  5. Multiple Bowen's disease in chronic arsenicosis

    OpenAIRE

    Joydeep Singha

    2014-01-01

    Bowen’s disease is a carcinoma in-situ of skin. It was fi rst described by John T. Bowen. It usually present as a solitary lesion in elderly person over sun-exposed area. A case of multiple Bowen’s disease involving non-sun exposed areas of a person with clinical sign of chronic arsenicosis has been found.Read more....

  6. Interleukin-10 and chronic liver disease

    OpenAIRE

    ZHANG, LI-JUAN; Wang, Xiao-Zhong

    2006-01-01

    Interleukin (IL)-10 is an important immunoregulatory cytokine produced by many cell populations. Numerous investigations suggest that IL-10 plays a major role in chronic liver diseases. IL-10 gene polymorphisms are possibly associated with liver disease susceptibility or severity. Recombinant human IL-10 has been produced and is currently tested in clinical trials. These trials may give new insights into the immunobiology of IL-10 and suggest that the IL-10/IL-10 receptor system may become a ...

  7. Interleukin-10 and chronic liver disease

    Institute of Scientific and Technical Information of China (English)

    Li-Juan Zhang; Xiao-Zhong Wang

    2006-01-01

    Interleukin (IL)-10 is an important immunoregulatory cytokine produced by many cell populations. Numerous investigations suggest that IL-10 plays a major role in chronic liver diseases. IL-10 gene polymorphisms are possibly associated with liver disease susceptibility or severity. Recombinant human IL-10 has been produced and is currently tested in clinical trials. These trials may give new insights into the immunobiology of IL-10 and suggest that the IL-10/IL-10 receptor system may become a new therapeutic target.

  8. Exacerbations of Chronic Obstructive Pulmonary Disease

    OpenAIRE

    Garvey, Christine; Ortiz, Gabriel

    2012-01-01

    Epidemiologic data indicate that chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality. Patients with poorly managed COPD are likely to experience exacerbations that require emergency department visits or hospitalization—two important drivers contributing to escalating healthcare resource use and costs associated with the disease. Exacerbations also contribute to worsening lung function and negative outcomes in COPD. The aim of this review is to present th...

  9. Hypertension and chronic kidney disease in Turkey

    OpenAIRE

    Sengul, Sule; Erdem, Yunus; Batuman, Vecihi; Erturk, Sehsuvar

    2013-01-01

    Worldwide, both hypertension and chronic kidney disease are major public health problems, due to their epidemic proportions and their association with high cardiovascular mortality. In 2003, the first Prevalence, awareness, treatment, and control of hypertension in Turkey (the PatenT) study was conducted in a nationally representative population (n=4910) by the Turkish Society of Hypertension and Renal Diseases, and showed that overall age- and sex-adjusted prevalence of hypertension in Turke...

  10. Anemia of Inflammation and Chronic Disease

    Science.gov (United States)

    ... 699–710. 4 Anemia of Inflammation and Chronic Disease Eating, Diet, and Nutrition People with anemia caused by ... Phone: 202–776–0544 Fax: 202–776–0545 Internet: www. hematology. org Iron Disorders Institute P.O. Box 675 Taylors, SC 29687 ...

  11. Chronic obstructive pulmonary disease - adults - discharge

    Science.gov (United States)

    ... visit when they're all better. Save Your Energy at Home Place items you use often in spots where ... H, Bruhl E, et al. Institute for Clinical Systems Improvement. Health care guideline: Diagnosis and management of chronic obstructive pulmonary disease (COPD). 10th edition. ...

  12. Osteoporosis Associated with Chronic Obstructive Pulmonary Disease

    Science.gov (United States)

    Watanabe, Reiko; Inoue, Daisuke

    2016-01-01

    Recent epidemiological studies have revealed that osteoporosis is closely associated with common chronic diseases including diabetes, hypertension, chronic kidney disorders, and chronic obstructive pulmonary disease (COPD). COPD is a chronic inflammatory airway disease but now well known to be associated with various systemic comorbidities including osteoporosis. Osteoporosis and osteoporotic fractures are extremely common in COPD patients, which have significant impacts on their quality of life (QOL), activities of daily life (ADL), respiratory function, and possibly their prognosis. COPD-associated osteoporosis is however extremely under-recognized, hence undertreated. Recent studies have suggested that both decreased bone mineral density (BMD) and impaired bone quality compromise bone strength causing fractures in COPD. In COPD patients, various general clinical risk factors for osteoporosis are present including smoking, older age, low body weight, and physical inactivity. In addition, disease-related risk factors such as decreased pulmonary function, inflammation, glucocorticoid use and vitamin D deficiency/insufficiency have been linked to the development of osteoporosis in COPD. Increased awareness of osteoporosis in COPD, especially that of high prevalence of vertebral fractures is called upon among general physicians as well as pulmonologists. Routine screening for osteoporosis and risk assessment of fractures will enable physicians to diagnose COPD patients with comorbid osteoporosis at an early stage. Timely prevention of developing osteoporosis together with appropriate treatment of established osteoporosis may improve QOL and ADL of the COPD patients, preserve their lung function and eventually result in better prognosis in these patients.

  13. Endothelial Dysfunction in Chronic Inflammatory Diseases

    Directory of Open Access Journals (Sweden)

    Curtis M. Steyers

    2014-06-01

    Full Text Available Chronic inflammatory diseases are associated with accelerated atherosclerosis and increased risk of cardiovascular diseases (CVD. As the pathogenesis of atherosclerosis is increasingly recognized as an inflammatory process, similarities between atherosclerosis and systemic inflammatory diseases such as rheumatoid arthritis, inflammatory bowel diseases, lupus, psoriasis, spondyloarthritis and others have become a topic of interest. Endothelial dysfunction represents a key step in the initiation and maintenance of atherosclerosis and may serve as a marker for future risk of cardiovascular events. Patients with chronic inflammatory diseases manifest endothelial dysfunction, often early in the course of the disease. Therefore, mechanisms linking systemic inflammatory diseases and atherosclerosis may be best understood at the level of the endothelium. Multiple factors, including circulating inflammatory cytokines, TNF-α (tumor necrosis factor-α, reactive oxygen species, oxidized LDL (low density lipoprotein, autoantibodies and traditional risk factors directly and indirectly activate endothelial cells, leading to impaired vascular relaxation, increased leukocyte adhesion, increased endothelial permeability and generation of a pro-thrombotic state. Pharmacologic agents directed against TNF-α-mediated inflammation may decrease the risk of endothelial dysfunction and cardiovascular disease in these patients. Understanding the precise mechanisms driving endothelial dysfunction in patients with systemic inflammatory diseases may help elucidate the pathogenesis of atherosclerosis in the general population.

  14. 28 CFR 79.57 - Proof of chronic renal disease.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Proof of chronic renal disease. 79.57... disease. (a) In determining whether a claimant developed chronic renal disease following pertinent... conclusion that a claimant developed chronic renal disease must be supported by medical documentation. (b)...

  15. 28 CFR 79.67 - Proof of chronic renal disease.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Proof of chronic renal disease. 79.67... renal disease. (a) In determining whether a claimant developed chronic renal disease following pertinent... claimant. A conclusion that a claimant developed chronic renal disease must be supported by...

  16. Myocardial Ischemia Assessment in Chronic Kidney Disease: Challenges and Pitfalls

    OpenAIRE

    Susie Fei Cen Parnham; Gleadle, Jonathan M.; De Pasquale, Carmine G; Selvanayagam, Joseph B

    2014-01-01

    Coronary artery disease is the leading cause of mortality and morbidity in the chronic kidney disease population and often presents with atypical symptoms. Current diagnostic investigations of myocardial ischemia in chronic kidney disease lack sensitivity and specificity or may have adverse effects. We present a case vignette and explore the challenges of diagnostic myocardial stress investigation in patients with chronic kidney disease.

  17. Pregnancy in chronic kidney disease.

    Science.gov (United States)

    Vellanki, Kavitha

    2013-05-01

    Despite vast improvements in fetal outcomes, pregnancy in women with CKD is fraught with hazards; worsening of renal function and complications like preeclampsia and premature delivery are common. To date, there is no accurate formula to calculate glomerular filtration rate (GFR). Also, whether the current CKD classification is better than the older classification at predicting outcomes in pregnant women with CKD is unknown. Women with an estimated GFR ≥1.4 mg/dL are at increased risk of progressive worsening of renal function regardless of the cause of the underlying kidney disease. Preeclampsia is difficult to diagnose in pregnant women with underlying CKD, and serum markers such as soluble fms-like tyrosine kinase 1 (sFlt1) and placental growth factor (PIGF) may lead the way for definitive diagnosis. New-onset lupus or lupus flare is an indication for kidney biopsy during pregnancy; cyclosporine is safe and is the most effective agent that can be used during pregnancy. Women with adult polycystic kidney disease are at increased risk of hypertension and preeclampsia during pregnancy, as well as hepatic cysts later in life, the latter occurring with multiple pregnancies. Strict blood pressure control is important in pregnant women with diabetic nephropathy. A multidisciplinary team that includes nephrologists and obstetricians who deal with high-risk pregnancies should be involved in the care of pregnant women with CKD for successful pregnancy outcomes. PMID:23928386

  18. Renal imaging in children with chronic kidney disease

    OpenAIRE

    Wiwit Rahmawati; Heru Muryawan; Farah Prabowo

    2013-01-01

    Background Chronic kidney failure is a cause of death in children. Diagnosing chronic kidney disease is often made by clinical manifestations, laboratory findings and ultrasonography or other imaging tests. Early detection of chronic kidney disease is needed for education and management of the disease. Objective To describe renal imaging findings and mortality in children with chronic kidney disease. Methods This was a cross-sectional study on children with kidney diseases who were in...

  19. Chronic asymptomatic hyperamylasemia unrelated to pancreatic disease

    Directory of Open Access Journals (Sweden)

    Generoso Uomo

    2013-05-01

    Full Text Available BACKGROUND Almost all patients presenting with chronic hyperamylasemia undergo an expensive, long, difficult and often repeated diagnostic workup even if this occurrence is not associated with symptoms or with known pancreatotoxic factors. This is in relationship with the poor knowledge that, beside hyperenzymemia secondary to pancreatic diseases and systemic illnesses, various non-pathological forms of chronic hyperamylasemia can occur in clinical practice. AIM OF THE STUDY This study was addressed to assess the clinical characteristics of patients presenting with chronic hyperamylasemia unrelated to pancreatic diseases (CHUPD. PATIENTS AND METHODS Data of all patients with CHUPD were retrospectively reviewed (June 1997-March 2007. Forty patients were included in the study; median follow- up was 33 months (range 3-84 months. CHUPD was secondary to: a chronic benign pancreatic hyperamylasemia, 16 patients (40%; b macroamylasemia, 15 patients (37.5%; c salivary hyperamylasemia, 9 patients (22.5%. Gilbert’s syndrome was present in 13 patients (32.5%; 8 with macroamylasemia and hyperdyslipidemia in 8 patients (20%; 5 with chronic benign pancreatic hyperamylasemia. Diagnostic exams (all in the normal range performed before our observation were: Ca19-9 serum level in 37/40 (92.5%, ultrasonography and computed tomography-scan in all patients, endoscopic retrograde cholangiopancreatography in 21/40 (52.5%, abdominal magnetic resonance in 14/40 (35%. Previous diagnosis in these asymptomatic subjects were: chronic pancreatitis in 26 cases (65%; recurrent pancreatitis in 10 cases (25%; the remaining 4 patients (10% were addressed without a specific diagnosis. CONCLUSIONS In clinical practice, the occurrence of an unexplained chronic hyperamylasemia very often allows to an unappropriate diagnostic workup due to the poor familiarity with CHUPD conditions.

  20. Psychosocial interventions for patients with chronic disease

    Directory of Open Access Journals (Sweden)

    Deter Hans-Christian

    2012-01-01

    Full Text Available Abstract Treatment of patients with chronic diseases will be one of the main challenges of medicine in the future. This paper presents an overview of different origins, mechanism, and symptoms necessary for understanding new and different interventions that include a psychosomatic view. In a psychosomatic therapeutic intervention there are very different targets, such as psychological symptoms, personality traits, attitudes toward disease and life, risk behaviour, and social isolation and as biological targets the change of autonomic imbalance and of the effects of the psycho-endocrinological or psycho-immunological stress responses. And there are also different psychosomatic measures that influence the individual biological, psychological and sociological targets. There is a need to give different answer to different questions in the field of psychosomatic and behavioral medicine. Comparative effectiveness research is an important strategy for solving some methodological issues. What is the target of treatment for different diseases: Symptom reduction, healing, or limiting progression to the worst case - the death of patients. We know that, the patient-physician relationship is important for every medical/therapeutic action for patients with chronic diseases. This volume of BioPsychoSocial Medicine will present four different psychosomatic treatment studies from the clinical field in the sense of phase 2 studies: Reports of patients with obesity, anorexia nervosa, chronic somatoform pain and coronary artery disease were presented

  1. Arterial hypertension and chronic liver disease

    DEFF Research Database (Denmark)

    Henriksen, Jens Henrik Sahl; Møller, S

    2005-01-01

    This review looks at the alterations in the systemic haemodynamics of patients with chronic liver disease (cirrhosis) in relation to essential hypertension and arterial hypertension of renal origin. Characteristic findings in patients with cirrhosis are vasodilatation with low overall systemic......, calcitonin gene-related peptide, nitric oxide, and other vasodilators, and is most pronounced in the splanchnic area. This provides an effective (although relative) counterbalance to raised arterial blood pressure. Subjects with arterial hypertension (essential, secondary) may become normotensive during the...... development of chronic liver disease, and arterial hypertension is rarely manifested in patients with cirrhosis, even in those with renovascular disease and high circulating renin activity. There is much dispute as to the understanding of homoeostatic regulation in cirrhotic patients with manifest arterial...

  2. Alcoholic Beverage Consumption and Chronic Diseases.

    Science.gov (United States)

    Zhou, Yue; Zheng, Jie; Li, Sha; Zhou, Tong; Zhang, Pei; Li, Hua-Bin

    2016-01-01

    Epidemiological and experimental studies have consistently linked alcoholic beverage consumption with the development of several chronic disorders, such as cancer, cardiovascular diseases, diabetes mellitus and obesity. The impact of drinking is usually dose-dependent, and light to moderate drinking tends to lower risks of certain diseases, while heavy drinking tends to increase the risks. Besides, other factors such as drinking frequency, genetic susceptibility, smoking, diet, and hormone status can modify the association. The amount of ethanol in alcoholic beverages is the determining factor in most cases, and beverage types could also make an influence. This review summarizes recent studies on alcoholic beverage consumption and several chronic diseases, trying to assess the effects of different drinking patterns, beverage types, interaction with other risk factors, and provide mechanistic explanations. PMID:27231920

  3. Alcoholic Beverage Consumption and Chronic Diseases

    Directory of Open Access Journals (Sweden)

    Yue Zhou

    2016-05-01

    Full Text Available Epidemiological and experimental studies have consistently linked alcoholic beverage consumption with the development of several chronic disorders, such as cancer, cardiovascular diseases, diabetes mellitus and obesity. The impact of drinking is usually dose-dependent, and light to moderate drinking tends to lower risks of certain diseases, while heavy drinking tends to increase the risks. Besides, other factors such as drinking frequency, genetic susceptibility, smoking, diet, and hormone status can modify the association. The amount of ethanol in alcoholic beverages is the determining factor in most cases, and beverage types could also make an influence. This review summarizes recent studies on alcoholic beverage consumption and several chronic diseases, trying to assess the effects of different drinking patterns, beverage types, interaction with other risk factors, and provide mechanistic explanations.

  4. Alcoholic Beverage Consumption and Chronic Diseases

    Science.gov (United States)

    Zhou, Yue; Zheng, Jie; Li, Sha; Zhou, Tong; Zhang, Pei; Li, Hua-Bin

    2016-01-01

    Epidemiological and experimental studies have consistently linked alcoholic beverage consumption with the development of several chronic disorders, such as cancer, cardiovascular diseases, diabetes mellitus and obesity. The impact of drinking is usually dose-dependent, and light to moderate drinking tends to lower risks of certain diseases, while heavy drinking tends to increase the risks. Besides, other factors such as drinking frequency, genetic susceptibility, smoking, diet, and hormone status can modify the association. The amount of ethanol in alcoholic beverages is the determining factor in most cases, and beverage types could also make an influence. This review summarizes recent studies on alcoholic beverage consumption and several chronic diseases, trying to assess the effects of different drinking patterns, beverage types, interaction with other risk factors, and provide mechanistic explanations. PMID:27231920

  5. Neurohumoral fluid regulation in chronic liver disease

    DEFF Research Database (Denmark)

    Møller, Søren; Henriksen, Jens Henrik Sahl

    1998-01-01

    Impaired homeostasis of the blood volume, with increased fluid and sodium retention, is a prevailing element in the deranged systemic and splanchnic haemodynamics in patients with liver disease. In this review, some basic elements of the circulatory changes that take place and of neurohumoral fluid...... regulation are outlined in order to provide an update of recent investigations on the neuroendocrine compensation of circulatory and volume dysfunction in chronic liver disease. The underlying pathophysiology is a systemic vasodilatation in which newly described potent vasoactive substances such as nitric...... and lungs. It is still an enigma why patients with chronic liver disease are at the same time overloaded and functional hypovolaemic with a hyperdynamic, hyporeactive circulation. Further research is needed to find the solution to this apparent haemodynamic conflict concerning the abnormal...

  6. Direct renin inhibition in chronic kidney disease

    DEFF Research Database (Denmark)

    Persson, Frederik; Rossing, Peter; Parving, Hans-Henrik

    2013-01-01

    that renin inhibition could hold potential for improved treatment in patients with chronic kidney disease, with diabetic nephropathy as an obvious group of patients to investigate, as the activity of the renin-angiotensin-aldosterone system is enhanced in these patients and as there is an unmet need...... inhibition in chronic kidney disease by reporting of the studies published so far as well as perspective on the future possibilites....... was terminated early as a beneficial effect was unlikely and there was an increased frequency of side effects. Also in non-diabetic kidney disease a few intervention studies have been carried out, but there is no ongoing hard outcome study. In this review we provide the current evidence for renin...

  7. Arterial Stiffness and Chronic Kidney Disease

    OpenAIRE

    Garnier, Anne-Sophie; Briet, Marie

    2016-01-01

    Chronic kidney disease (CKD) is a major public health concern due to the high prevalence of associated cardiovascular (CV) disease. CV mortality is 10-30 times higher in end-stage renal disease patients than in the age-adjusted general population. The last 20 years have been marked by a huge effort in the characterization of the vascular remodeling process associated with CKD and its consequences on the renal, CV and general prognosis. By comparison with patients with normal renal function, w...

  8. Haemostasis in chronic kidney disease.

    Science.gov (United States)

    Lutz, Jens; Menke, Julia; Sollinger, Daniel; Schinzel, Helmut; Thürmel, Klaus

    2014-01-01

    The coagulation system has gained much interest again as new anticoagulatory substances have been introduced into clinical practice. Especially patients with renal failure are likely candidates for such a therapy as they often experience significant comorbidity including cardiovascular diseases that require anticoagulation. Patients with renal failure on new anticoagulants have experienced excessive bleeding which can be related to a changed pharmacokinetic profile of the compounds. However, the coagulation system itself, even without any interference with coagulation modifying drugs, is already profoundly changed during renal failure. Coagulation disorders with either episodes of severe bleeding or thrombosis represent an important cause for the morbidity and mortality of such patients. The underlying reasons for these coagulation disorders involve the changed interaction of different components of the coagulation system such as the coagulation cascade, the platelets and the vessel wall in the metabolic conditions of renal failure. Recent work provides evidence that new factors such as microparticles (MPs) can influence the coagulation system in patients with renal insufficiency through their potent procoagulatory effects. Interestingly, MPs may also contain microRNAs thus inhibiting the function of platelets, resulting in bleeding episodes. This review comprises the findings on the complex pathophysiology of coagulation disorders including new factors such as MPs and microRNAs in patients with renal insufficiency. PMID:24132242

  9. A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.

    Science.gov (United States)

    Chou, Janet; Hsu, Joyce T; Bainter, Wayne; Al-Attiyah, Raja'a; Al-Herz, Waleed; Geha, Raif S

    2015-12-01

    Chronic granulomatous disease (CGD) is typically characterized by recurrent infections, granulomatous disease, and an increased susceptibility to autoimmune disease. We report a novel homozygous mutation in NCF2 that permits residual expression of an alternatively spliced variant in a patient with duodenitis and systemic lupus erythematosus (SLE), followed by a late-onset, single pulmonary infection in the setting of immunosuppressive medications. This report highlights the importance of considering CGD in patients who present initially exclusively with autoimmune disease. PMID:26272171

  10. Chronic Liver Disease and American Indians/Alaska Natives

    Science.gov (United States)

    ... Native > Chronic Liver Disease Chronic Liver Disease and American Indians/Alaska Natives Among American Indians and Alaska Natives, ... 54. 1 At a glance – Cancer Rates for American Indian/Alaska Natives (2008-2012) Cancer Incidence Rates per ...

  11. Granulomatous Amoebic Encephalitis: Clinical Diagnosis and Management

    OpenAIRE

    Khan, Naveed A.

    2005-01-01

    Granulomatous amoebic encephalitis (GAE) is a serious human disease with fatal consequences. With the mortality rate of more than 90%, it is not surprising that the majority of GAE infections are identified at the post-mortem stage. The most distressing aspect is that the high level of mortality is attributed to lack of awareness. Early diagnosis with aggressive treatment can lead to successful prognosis for the patient. Here, we describe a brief overview of the current understanding of the p...

  12. Idiopathic Granulomatous Mastitis: A Case Report

    Directory of Open Access Journals (Sweden)

    Mojtaba Varshochi

    2010-01-01

    Full Text Available Problem statement: Granulomatous Lobular Mastitis (GLM or autoimmune mastitis is a rare and benign disease which, except one case reported in an old man, is usually seen during pregnancy or lactation period. This disease was described for the first time by Kessler. Approach: Our case is a 34 year-old woman who has a child with a history of using OCP that primary complaint was swelling, heat and erythema in the right breast. She was diagnosed with mastitis and treated with antibiotics for one month, later on she had experienced stiffness in the breast and a mass was also palpable. The patient was performed surgical drainage and treated with wide spectrum antibiotics being diagnosed with abscess. After one month, a solid mass was palpable so, mammography was performed and the mass was surgically resected with a suspicion of tumor. Results: The pathology report revealed granulomatous mastitis with non caseified granuloma. For Anti-TB treatment was started as medication regime and after 40 days fistula with frequent secretions appeared. Antituberculosis medications stopped and other conditions resulting in none caseified granuloma. In microscopic view granulomatous mastitis along with abscess was reported. Corticosteroids were started and the mass became smaller gradually, the fistula also closed and secretions dried out. Conclusion: Granulomatous Lobular Mastitis is a benign inflammatory breast disease. Cause of disease is still unknown, but some factors have been suggested such as local autoimmune, reaction to the delivery, previous use of contraceptives and infectious causes. The best treatment proposed is corticosteroid therapy in which the mass dwindle and the fistula is closed and secretions dried. The case is now under treatment with corticosteroids and all her symptoms have improved.

  13. Cognitive impairment in human chronic Chagas' disease

    Directory of Open Access Journals (Sweden)

    C.A. Mangone

    1994-06-01

    Full Text Available We proposed to investigate subclinical cognitive impairment secondary to chronic Chagas' disease (CCD. No similar study was previously done. The neuropsychological performance of 45 chronic Chagasic patients and 26 matched controls (age, education place and years of residency in endemic area was compared using the Mini Mental State Exam (MMSE, Weschler Memory Scale (WMS and the Weschler Adult Intelligent Scale (WAIS. Non-parametric tests and Chi2 were used to compare group means and multivariate statistics in two way frequency tables for measures of independence and association of categorical variables with the disease. Results: Chagasic patients showed lower MMSE scores (p<004, poor orientation (p<.004, and attention (p<.007. Lower WMS MQ were associated with CCD (Chi2 5.9; p<.01; Fisher test p<.02. Lower WAIS IQ were associated with CCD (Chi2 6.3, p<.01; Fisher test p<.01 being the digit symbol (p<.03, picture completion (p<.03, picture arrangement (p<.01 and object assembly (p<.03 subtests the most affected. The impairment in non-verbal reasoning, speed of information processing, problem solving, learning and sequencing observed in chronic Chagas disease patients resembles the cognitive dysfunction associated with white matter disease.

  14. Granulomatous interstitial nephritis.

    Science.gov (United States)

    Shah, Shivani; Carter-Monroe, Naima; Atta, Mohamed G

    2015-10-01

    Granulomatous interstitial nephritis (GIN) is a rare entity detected in ∼0.5-0.9% of all renal biopsies. GIN has been linked to several antibiotics such as cephalosporins, vancomycin, nitrofurantoin and ciprofloxacin. It is also associated with NSAIDs and granulomatous disorders such as sarcoidosis, tuberculosis, fungal infections, and granulomatosis with polyangiitis. Renal biopsy is critical in establishing this diagnosis, and the extent of tubular atrophy and interstitial fibrosis may aid in determining prognosis. Retrospective data and clinical experience suggest that removal of the offending agent in conjunction with corticosteroid therapy often results in improvement in renal function. We describe a patient with a history of multiple spinal surgeries complicated by wound infection who presented with confusion and rash with subsequent development of acute kidney injury. Urinalysis demonstrated pyuria and eosinophiluria, and renal biopsy revealed acute interstitial nephritis with granulomas. These findings were attributed to doxycycline treatment of his wound infection. This review explores the clinical associations, presentation, diagnosis, and treatment of this uncommon cause of acute kidney injury. PMID:26413275

  15. Sleep disorders and chronic kidney disease

    Science.gov (United States)

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

    2016-01-01

    Sleep disorders have a profound and well-documented impact on overall health and quality of life in the general population. In patients with chronic disease, sleep disorders are more prevalent, with an additional morbidity and mortality burden. The complex and dynamic relationship between sleep disorders and chronic kidney disease (CKD) remain relatively little investigated. This article presents an overview of sleep disorders in patients with CKD, with emphasis on relevant pathophysiologic underpinnings and clinical presentations. Evidence-based interventions will be discussed, in the context of individual sleep disorders, namely sleep apnea, insomnia, restless leg syndrome and excessive daytime sleepiness. Limitations of the current knowledge as well as future research directions will be highlighted, with a final discussion of different conceptual frameworks of the relationship between sleep disorders and CKD. PMID:27152260

  16. Lactate metabolism in chronic liver disease

    DEFF Research Database (Denmark)

    Jeppesen, Johanne B; Mortensen, Christian; Bendtsen, Flemming;

    2013-01-01

    Background. In the healthy liver there is a splanchnic net-uptake of lactate caused by gluconeogenesis. It has previously been shown that patients with acute liver failure in contrast have a splanchnic release of lactate caused by a combination of accelerated glycolysis in the splanchnic region and...... a reduction in hepatic gluconeogenesis. Aims. The aims of the present study were to investigate lactate metabolism and kinetics in patients with chronic liver disease compared with a control group with normal liver function. Methods. A total of 142 patients with chronic liver disease and 14 healthy...... controls underwent a liver vein catheterization. Blood samples from the femoral artery and the hepatic and renal veins were simultaneously collected before and after stimulation with galactose. Results. The fasting lactate levels, both in the hepatic vein and in the femoral artery, were higher in the...

  17. Netherlands : employment opportunities for people with chronic diseases

    NARCIS (Netherlands)

    Hooftman, W.; Houtman, I.L.D.

    2014-01-01

    There is no clear national definition of a chronic disease in a work situation in the Netherlands. Questionnaire data shows that between 25% and 30% of all workers are affected by a chronic disease. Worker with a chronic disease have slightly different working conditions as compared to workers witho

  18. Chronic Kidney Disease: What Does It Mean for Me?

    Science.gov (United States)

    ... our online catalog. Alternate Language URL Españ​ol Chronic Kidney Disease (CKD) Basics Page Content Chronic Kidney Disease: The ... and My Lifestyle CKD: Tracking My Test Results Chronic Kidney Disease: The Basics You've been told that you ...

  19. Diaphragm Dysfunction in Chronic Obstructive Pulmonary Disease

    OpenAIRE

    Ottenheijm, Coen A. C.; Heunks, Leo M.A.; Sieck, Gary C.; Zhan, Wen-Zhi; Jansen, Suzanne M.; Degens, Hans; de Boo, Theo; Dekhuijzen, P.N Richard

    2005-01-01

    Rationale: Hypercapnic respiratory failure because of inspiratory muscle weakness is the most important cause of death in chronic obstructive pulmonary disease (COPD). However, the pathophysiology of failure of the diaphragm to generate force in COPD is in part unclear. Objectives: The present study investigated contractile function and myosin heavy chain content of diaphragm muscle single fibers from patients with COPD. Methods: Skinned muscle fibers were isolated from muscle biopsies from t...

  20. Pneumocystis jirovecii colonization in chronic pulmonary disease

    OpenAIRE

    Gutiérrez S.; Respaldiza N.; Campano E.; Martínez-Risquez M.T.; Calderón E.J.; De La Horra C.

    2011-01-01

    Pneumocystis jirovecii causes pneumonia in immunosuppressed individuals. However, it has been reported the detection of low levels of Pneumocystis DNA in patients without signs and symptoms of pneumonia, which likely represents colonization. Several studies performed in animals models and in humans have demonstrated that Pneumocystis induces a local and a systemic response in the host. Since P. jirovecii colonization has been found in patients with chronic pulmonary diseases it has been sugge...

  1. Gut microbiota, immune system and chronic diseases

    Czech Academy of Sciences Publication Activity Database

    Tlaskalová-Hogenová, Helena; Hudcovic, Tomáš; Štěpánková, Renata; Klimešová, Klára; Hrnčíř, Tomáš; Kverka, Miloslav; Rossmann, Pavel; Kozáková, Hana; Zákostelská, Zuzana; Funda, David; Kokešová, Alena; Kobayashi, K.

    Praha: Carolinum, 2012. s. 47-47. ISBN 978-80-7395-456-7. [International Nutrition and Diagnostics Conference /12./. 27.08.2012-30.08.2012, Praha] R&D Projects: GA TA ČR TA01010737; GA MZd(CZ) NT13483 Institutional research plan: CEZ:AV0Z50200510 Keywords : chronic diseases * gut microbiota * anticancer response Subject RIV: EC - Immunology

  2. Ethical considerations in chronic musculoskeletal disease

    OpenAIRE

    Mackenzie, C. Ronald; de Melo-Martin, Inmaculada

    2015-01-01

    Chronic diseases compromise the life of the sufferer, encumber their families, and exert intractable burdens on the health-care system. With the aging of the population, such conditions have become the primary determinants of morbidity and mortality and the leading cause of disability in our society. Despite the serious challenges they impose, the ethical discourse engendered by them has lagged behind that of acute care medicine. Of particular relevance are the challenges to individual autono...

  3. Clinical Scenarios in Chronic Kidney Disease: Cystic Renal Diseases.

    Science.gov (United States)

    Meola, Mario; Samoni, Sara; Petrucci, Ilaria

    2016-01-01

    Cysts are frequently found in chronic kidney disease (CKD) and they have a different prognostic significance depending on the clinical context. Simple solitary parenchymal cysts and peripelvic cysts are very common and they have no clinical significance. At US, simple cyst appears as a round anechoic pouch with regular and thin profiles. On the other hand, hereditary polycystic disease is a frequent cause of CKD in children and adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the best known cystic hereditary diseases. ADPKD and ARPKD show a diffused cystic degeneration with cysts of different diameters derived from tubular epithelium. Medullary cystic disease may be associated with tubular defects, acidosis and lithiasis and can lead to CKD. Acquired cystic kidney disease, finally, is secondary to progressive structural end-stage kidney remodelling and may be associated with renal cell carcinoma. PMID:27169740

  4. Ivabradine, heart failure and chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Luca Di Lullo

    2015-12-01

    Full Text Available The incidence and prevalence of congestive heart failure are actually increasing worldwide, especially in Western countries. In Europe and the United States, congestive heart failure represents a disabling clinical disease, accountable for increased hospitalization and health care costs. European guidelines have underlined the importance of pharmacological treatment to improve both patients’ outcomes and quality of life. The latest clinical trials to evaluate ivabradine’s efficacy have underlined its usefulness as a stand-alone medication and in combination with conventional congestive heart failure therapy, including in chronic kidney disease patients.

  5. Biomarkers in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Sin, Don D; Vestbo, Jørgen

    2009-01-01

    Currently, with exception of lung function tests, there are no well validated biomarkers or surrogate endpoints that can be used to establish efficacy of novel drugs for chronic obstructive pulmonary disease (COPD). However, the lung function test is not an ideal surrogate for short-term drug...... trials because it (1) does not provide information regarding disease activity or the underlying pathologic process, (2) cannot separate the various phenotypes of COPD, (3) is not specific for COPD, and (4) is relatively unresponsive to known therapies that prolong survival. Accordingly, there are large...

  6. Chronic kidney disease: Statins in chronic kidney disease: time to move on?

    Science.gov (United States)

    Haynes, Richard; Wanner, Christoph

    2015-05-01

    Statins reduce the risk of atherosclerotic vascular disease in healthy individuals and those with chronic kidney disease (CKD); however, clinical trials have suggested a minimal effect of statins on CKD progression. The PLANET trials compared the renal effects of rosuvastatin and atorvastatin, but the findings leave many questions unanswered. PMID:25802077

  7. Chronic liver disease in Aboriginal North Americans

    Institute of Scientific and Technical Information of China (English)

    John D Scott; Naomi Garland

    2008-01-01

    A structured literature review was performed to detail the frequency and etiology of chronic liver disease (CLD) in Aboriginal North Americans. CLD affects Aboriginal North Americans disproportionately and is now one of the most common causes of death.Alcoholic liver disease is the leading etiology of CLD,but viral hepatitis, particularly hepatitis C, is an important and growing cause of CLD. High rates of autoimmune hepatitis and primary biliary cirrhosis (PBC) are reported in regions of coastal British Columbia and southeastern Alaska. Non-alcoholic liver disease is a common, but understudied, cause of CLD.Future research should monitor the incidence and etiology of CLD and should be geographically inclusive.In addition, more research is needed on the treatment of hepatitis C virus (HCV) infection and non-alcoholicfatty liver disease (NAFLD) in this population.

  8. Assessment of phagocytic activity of neutrophils in chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Lalitha Shanmugam

    2015-01-01

    Full Text Available Aim: To assess the phagocytic activity of neutrophils in subjects with chronic obstructive pulmonary disease (COPD. Background/Need of Study: There is a paucity of data in relation to phagocytic function in COPD. By this multidisciplinary study, a better understanding about the etiology of lung destruction among COPD patients is being sought. Materials and Methods: The study was conducted among 28 subjects with COPD and 25 controls in a private tertiary hospital in Chennai after obtaining Institutional Ethical Clearance. Known cases of COPD as proven by clinical findings and spirometry were included in the study, and subjects with any other source of infection, recent surgery, or chronic granulomatous disease were excluded. The study subjects were divided into three groups based on the severity of COPD as determined by spirometry, and healthy volunteers were taken as Group 4. After obtaining informed consent, validated respiratory health questionnaire was administered. The phagocytic function was assessed by Candida phagocytic test and Nitroblue Tetrazolium (NBT Reduction Test. Results: Significantly impaired phagocytic function as indicated by lower phagocytic, lytic indices and decreased NBT reduction of neutrophils was seen in COPD subjects compared to normal healthy controls (P <.001. Conclusion: This study showed that there is phagocytic dysfunction in COPD subjects when compared with normal subjects. This could be due to underlying inflammation in human airway. Understanding the role of neutrophils may lead to improved understanding of the pathogenesis of COPD, which in turn may pave way for implementing modified therapeutic intervention strategies.

  9. A CONTROVERSIAL ON THE DIAGNOSIS OF CHRONIC BULLOUS TYPE MUCOCUTANEOUS DISEASE INVOLVING ORAL MUCOSA (A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Isadora Gracia

    2006-04-01

    Full Text Available A case of chronic bullous type mucocutaneous disease involving oral mucosa was reported from a 56 years old man with never healing oral ulcers and wound on the perianal skin for three years. There were also red and black spots on the limb and back skin and a lesion on nail. Painful oral lesion consisted of mucous erosion, desquamative gingivitis, and sloughing area on palate and tongue. The patient is diabetic. The first perianal skin diagnosis was granulomatous candidasis with differential diagnosis pemphigus vegetates and acuminarum condiloma. However the histopathologic examination did not support these diagnosis. After several histopathologic examinations, the latest perianal skin diagnosis was lichen planus with differential diagnosis granulomatous vasculitis, bowenoid papulosis and pyodema gangrenosum. Other skin diagnosis was erythema multiforme. Oral diagnosis was mucous membrane pemphigoid with differential diagnosis lichen planus, Behçet's syndrome and erythema multiforme. Oral histopathologic examinations showed a sub-epithelial blister, which supported mucous membrane pemphigoid. A lip balm, prednisone 5 mg oral rinse and multivitamins were given but oral improvement started after blood sugar level was controlled. Conclusion: It is not yet known whether skin and oral mucous lesions are from the same disease or not.

  10. Chronic idiopathic urticaria and Graves' disease.

    Science.gov (United States)

    Ruggeri, R M; Imbesi, S; Saitta, S; Campennì, A; Cannavò, S; Trimarchi, F; Gangemi, S

    2013-01-01

    Chronic urticaria is a common condition characterized by recurrent episodes of mast cell-driven wheal and flare-type skin reactions lasting for more than 6 weeks. In about 75% of cases, the underlying causes remain unknown, and the term chronic idiopathic urticaria (CIU) is used to emphasize that wheals develop independently of identified external stimuli. Although CIU affects about 1.0% of the general population, its etiopathogenesis is not yet well understood. It is now widely accepted that in many cases CIU should be regarded as an autoimmune disorder caused by circulating and functionally active IgG autoantibodies specific for the IgE receptor (FceRI) present on mast cells and basophils or for IgE itself. The well-known association of CIU with other autoimmune processes/diseases represents further indirect evidence of its autoimmune origin. Autoimmune thyroid diseases, especially autoimmune thyroiditis, represent the most frequently investigated diseases in association with CIU. Here we review this topic with particular regard to the association between Graves' disease and CIU. The possible pathogenetic mechanisms and the clinical implications of such an association are discussed. PMID:23609949

  11. Vitamin D deficiency in chronic liver disease

    Institute of Scientific and Technical Information of China (English)

    Paula; Iruzubieta; lvaro; Terán; Javier; Crespo; Emilio; Fábrega

    2014-01-01

    Vitamin D is an important secosteroid hormone with known effect on calcium homeostasis,but recently there is increasing recognition that vitamin D also is involved in cell proliferation and differentiation,has immunomodulatory and anti-inflammatory properties.Vitamin D deficiency has been frequently reported in many causes of chronic liver disease and has been associated with the development and evolution of non-alcoholic fatty liver disease(NAFLD)and chronic hepatitis C(CHC)virus infection.The role of vitamin D in the pathogenesis of NAFLD and CHC is not completely known,but it seems that the involvement of vitamin D in the activation and regulation of both innate and adaptive immune systems and its antiproliferative effect may explain its importance in these liver diseases.Published studies provide evidence for routine screening for hypovitaminosis D in patients with liver disease.Further prospectives studies demonstrating the impact of vitamin D replacement in NAFLD and CHC are required.

  12. Role of cannabinoids in chronic liver diseases

    Institute of Scientific and Technical Information of China (English)

    Anna Parfieniuk; Robert Flisiak

    2008-01-01

    Cannabinoids are a group of compounds acting primarily via CB1 and CB2 receptors. The expression of cannabinoid receptors in normal liver is low or absent. However, many reports have proven up-regulation of the expression of CB1 and CB2 receptors in hepatic myofibroblasts and vascular endothelial cells, as well as increased concentration of endocannabinoids in liver in the course of chronic progressive liver diseases. It has been shown that CB1 receptor signalling exerts profibrogenic and proinflammatory effects in liver tissue, primarily due to the stimulation of hepatic stellate cells, whereas the activation of CB2 receptors inhibits or even reverses liver fibrogenesis. Similarly, CB1 receptor stimulation contributes to progression of liver steatosis. In end-stage liver disease, the endocannabi-noid system has been shown to contribute to hepatic encephalopathy and vascular effects, such as portal hypertension, splanchnic vasodilatation, relative pe-ripheral hypotension and probably cirrhotic cardiomy-opathy. So far, available evidence is based on cellular cultures or animal models. Clinical data on the effects of cannabinoids in chronic liver diseases are limited. However, recent studies have shown the contribution of cannabis smoking to the progression of liver fibrosis and steatosis. Moreover, controlling CB1 or CB2 signal-ling appears to be an attractive target in managing liver diseases.

  13. Curcumin, Inflammation, and Chronic Diseases: How Are They Linked?

    Directory of Open Access Journals (Sweden)

    Yan He

    2015-05-01

    Full Text Available It is extensively verified that continued oxidative stress and oxidative damage may lead to chronic inflammation, which in turn can mediate most chronic diseases including cancer, diabetes, cardiovascular, neurological, inflammatory bowel disease and pulmonary diseases. Curcumin, a yellow coloring agent extracted from turmeric, shows strong anti-oxidative and anti-inflammatory activities when used as a remedy for the prevention and treatment of chronic diseases. How oxidative stress activates inflammatory pathways leading to the progression of chronic diseases is the focus of this review. Thus, research to date suggests that chronic inflammation, oxidative stress, and most chronic diseases are closely linked, and the antioxidant properties of curcumin can play a key role in the prevention and treatment of chronic inflammation diseases.

  14. Recent updates in chronic obstructive pulmonary disease.

    Science.gov (United States)

    Garvey, Christine

    2016-03-01

    Chronic obstructive pulmonary disease (COPD), characterized by chronic airways inflammation and progressive airflow limitation, is a common, preventable and treatable disease. Worldwide, COPD is a major cause of morbidity and mortality; smoking tobacco is the most important risk factor. This translational review of recent updates in COPD care for the primary care audience, includes recommendations from the 2015 Global Initiative for chronic obstructive lung disease (GOLD) report on diagnosis, pharmacological and non-pharmacological treatment, prevalence of comorbidities, management of exacerbations and the asthma and COPD overlap syndrome, with a focus on the importance and benefit of physical activity and exercise in COPD patients. Exacerbations and comorbidities contribute to the overall severity of COPD in individual patients. Management of exacerbations includes reducing the impact of the current exacerbation and preventing development of subsequent episodes. Healthcare professionals need to be alert to comorbidities, such as cardiovascular disease, anxiety/depression, lung cancer, infections and diabetes, which are common in COPD patients and can have a significant impact on HRQoL and prognosis. Pulmonary rehabilitation is recommended by a number of guidelines for all symptomatic COPD patients, regardless of severity, and involves exercise training, patient education, nutritional advice and psychosocial support. At all stages of COPD, regular physical activity and exercise can aid symptom control, improve HRQoL, reduce rates of hospitalization, and improve morbidity and respiratory mortality. Healthcare professionals play a pivotal role in improving HRQoL and health-related outcomes in COPD patients to meet their specific needs and in providing appropriate diagnosis, management and advice on smoking cessation. PMID:26560514

  15. Severe chronic allergic (and related) diseases

    DEFF Research Database (Denmark)

    Bousquet, J; Anto, J M; Demoly, P;

    2012-01-01

    Concepts of disease severity, activity, control and responsiveness to treatment are linked but different. Severity refers to the loss of function of the organs induced by the disease process or to the occurrence of severe acute exacerbations. Severity may vary over time and needs regular follow......-up. Control is the degree to which therapy goals are currently met. These concepts have evolved over time for asthma in guidelines, task forces or consensus meetings. The aim of this paper is to generalize the approach of the uniform definition of severe asthma presented to WHO for chronic allergic...... and associated factors such as comorbidities and risk factors. This uniform definition will allow a better definition of the phenotypes of severe allergic (and related) diseases for clinical practice, research (including epidemiology), public health purposes, education and the discovery of novel therapies....

  16. [Pulmonary obstructive chronic disease and physical exercise].

    Science.gov (United States)

    António, Carla; Gonçalves, Ana Paula; Tavares, Alcina

    2010-01-01

    Chronic Obstructive Pulmonary Disease (COPD) is a disease that can be prevented and treated, with a pulmonary component and with significant systemic effects that contribute to the severity of clinical manifestations. COPD causes a number of changes, including those which lead to exercise tolerance limitation and to a progressive deterioration of life quality of the patients. Respiratory rehabilitation (RR) represents a key part of the treatment. The benefits of RR are independent of sex, age and disease severity. At the end of the program, the patient should have acquired a life style as independent and healthy as possible. With this article the authors intend to review the benefits of physical exercise in rehabilitation of patients with COPD and the different types of training used in the respiratory rehabilitation program established for each patient. PMID:20700562

  17. Natural histories of chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Rennard, Stephen I; Vestbo, Jørgen

    2008-01-01

    Concepts relating to the natural history of chronic obstructive pulmonary disease (COPD) arise most importantly from the classic study of Fletcher and colleagues (The Natural History of Chronic Bronchitis and Emphysema, Oxford University Press, New York, 1976). This study, which evaluated working...... English men over 8 years, was used to construct a proposed life-long natural history. Although this is a classic study that has greatly advanced understanding of COPD, it has a number of limitations. Its duration is relatively short compared with the duration of COPD, so it is more cross-sectional than...... longitudinal. It was unable to distinguish among varied "natural histories." It assessed primarily the FEV(1), and the natural history of other features of COPD is largely undescribed. With advances in understanding the clinical features of COPD and with the development of evaluating new tools to assess...

  18. Impact of diabetes, chronic heart failure, congenital heart disease and chronic obstructive pulmonary disease on acute and chronic exercise responses

    OpenAIRE

    Brassard, Patrice; Ferland, Annie; Marquis, Karine; Maltais, François; Jobin, Jean; Poirier, Paul

    2007-01-01

    Several chronic diseases are known to negatively affect the ability of an individual to perform exercise. However, the altered exercise capacity observed in these patients is not solely associated with the heart and lungs dysfunction. Exercise has also been shown to play an important role in the management of several pathologies encountered in the fields of cardiology and pneumology. Studies conducted in our institution regarding the influence of diabetes, chronic heart failure, congenital he...

  19. Screening for chronic kidney disease : Where does Europe go?

    NARCIS (Netherlands)

    de Jong, Paul E.; van der Velde, Marije; Gansevoort, Ron T.; Zoccali, Carmine

    2008-01-01

    This review discusses various screening approaches for chronic kidney disease that are used in Europe. The criterion for defining chronic kidney disease in the various programs differs but is frequently limited to estimated glomerular filtration rate, thus offering only data on chronic kidney diseas

  20. Hypertension and chronic kidney disease in Turkey.

    Science.gov (United States)

    Sengul, Sule; Erdem, Yunus; Batuman, Vecihi; Erturk, Sehsuvar

    2013-12-01

    Worldwide, both hypertension and chronic kidney disease are major public health problems, due to their epidemic proportions and their association with high cardiovascular mortality. In 2003, the first Prevalence, awareness, treatment, and control of hypertension in Turkey (the PatenT) study was conducted in a nationally representative population (n=4910) by the Turkish Society of Hypertension and Renal Diseases, and showed that overall age- and sex-adjusted prevalence of hypertension in Turkey was 31.8%. The PatenT study also reported that overall awareness (40.7%), treatment (31.1%), and control rates (8.1%) of hypertension were strikingly low. Only 20.7% of the patients who were aware of their hypertension and receiving treatment had their blood pressure controlled to diabetes mellitus, dyslipidemia, obesity, and metabolic syndrome were reported as 32.7%, 12.7%, 76.3%, 20.1%, and 31.3%, respectively. The prevalence and awareness of hypertension in CREDIT population was 32.7% and 48.6%, respectively. According to the data obtained from national surveys, the prevalence of hypertension and chronic kidney disease in Turkey is alarmingly high. To improve prevention, early diagnosis, and treatment of these major public health problems, appropriate health strategies should be implemented by the government, together with medical societies, non-governmental organizations, industry, health-care providers, and academia. PMID:25019009

  1. Granulomatous Peritonitis After Laparoscopic Cholecystectomy

    OpenAIRE

    Famularo, Giuseppe; Remotti, Daniele; Galluzzo, Michele; Gasbarrone, Laura

    2012-01-01

    Background: Granulomatous peritonitis may indicate a number of infectious, malignant, and idiopathic inflammatory conditions. It is a very rare postoperative complication, which is thought to reflect a delayed cell-mediated response to cornstarch from surgical glove powder in susceptible individuals. This mechanism, however, is much more likely to occur with open abdominal surgery when compared with the laparoscopic technique. Methods: We report a case of sterile granulomatous peritonitis in ...

  2. Travoprost Induced Granulomatous Anterior Uveitis

    OpenAIRE

    Patrick Chiam

    2011-01-01

    Purpose. To report a case of granulomatous anterior uveitis caused by travoprost. Methods. Single observational case report. Results. A 71-year-old who was fit and healthy presented with bilateral granulomatous anterior uveitis 2 months after he was started on travoprost in both eyes. There was no past history of uveitis. Blood test and radiological investigation were unremarkable. Travoprost was stopped. The uveitis resolved on topical steroid treatment. A rechallenge with travoprost was att...

  3. Radiology of chronic diseases of the ankle joint; Chronische Krankheitsbilder am Sprunggelenk

    Energy Technology Data Exchange (ETDEWEB)

    Rand, T. [Vienna Univ. (Austria). Einrichtung fuer Magnetresonanztomographie]|[Universitaetsklinik fuer Radiodiagnostik, Vienna (Austria); Trattnig, S.; Breitenseher, M.; Imhof, H. [Vienna Univ. (Austria). Einrichtung fuer Magnetresonanztomographie; Kreuzer, S. [Universitaetsklinik fuer Radiodiagnostik, Vienna (Austria); Wagesreither, S. [Vienna Univ. (Austria). Klinik fuer Zahn-, Mund- und Kieferheilkunde

    1999-01-01

    The etiology of chronic diseases of the ankle joint comprises a wide spectrum including chronic inflammatory processes and chronic degenerative, tumorous and neuropathic processes, as well as some specific syndromes based on chronic changes of the ankle joint. Of the inflammatory processes, chronic juvenile arthritis (JVC) is the most common disease. However, also Reiter disease, psoriasis or chronic monoarthritid diseases such as gout, as well as granulomatous diseases (tuberculosis, sarcoidosis) and fungal infections, may affect the ankle joint in a chronic course. Chronic degenerative changes are usually secondary due to abnormal positioning of the joint constituents or repetitive trauma. Neuropathic changes, as frequently seen in the course of diabetes, present with massive osseous destruction and malposition of the articular constituents. Chronic osseous as well as cartilaginous and synovial changes are seen in hemoplici patients. Chronic traumatic changes are represented by pigmented villonodular synovitis (PVNS), and chondromatosis, both with a predilection for the ankle joint. Due to the possibilities of magnetic resonance imaging (MRI), diagnosis of chronic ankle changes includes chronic ligamentous, tendinous and soft tissue changes. With the use MRI, specific syndromes can be defined which particularly affect the ankle joint in a chronic way, such as the os trigonum syndrome, the anterolateral impingement syndrome and the sinus tarsi syndrome. Nevertheless, plain film radiographs are still the basic element of any investigation. MRI, however, can be potentially used as a second investigation, saving an unnecessary cascade of investigations with ultrasound and CT. The latter investigations are used only with very specific indications, for instance CT for subtle bone structures and sonography for a limited investigation of tendons or evaluation of fluid. Particularly due to the possibilities of MRI and the development of special gradient-echo imaging or

  4. Curcumin, Inflammation, and Chronic Diseases: How Are They Linked?

    OpenAIRE

    Yan He; Yuan Yue; Xi Zheng; Kun Zhang; Shaohua Chen; Zhiyun Du

    2015-01-01

    It is extensively verified that continued oxidative stress and oxidative damage may lead to chronic inflammation, which in turn can mediate most chronic diseases including cancer, diabetes, cardiovascular, neurological, inflammatory bowel disease and pulmonary diseases. Curcumin, a yellow coloring agent extracted from turmeric, shows strong anti-oxidative and anti-inflammatory activities when used as a remedy for the prevention and treatment of chronic diseases. How oxidative stress activate...

  5. Analysis of electrocardiogram in chronic obstructive pulmonary disease patients

    OpenAIRE

    Lazović Biljana; Zlatković-Švenda Mirjana; Mazić Sanja; Stajić Zoran; Đelić Marina

    2013-01-01

    Introduction. Chronic obstructive pulmonary disease is the fourth leading cause of mortality worldwide. It is defined as a persistent airflow limitation usually progressive and not fully reversible to treatment. The diagnosis of chronic obstructive pulmonary disease and severity of disease is confirmed by spirometry. Chronic obstructive pulmonary disease produces electrical changes in the heart which shows characteristic electrocardiogram pattern. The aim of this study was to observe an...

  6. Pathophysiology and treatment of inflammatory anorexia in chronic disease

    OpenAIRE

    Braun, Theodore P.; Marks, Daniel L.

    2010-01-01

    Decreased appetite and involuntary weight loss are common occurrences in chronic disease and have a negative impact on both quality of life and eventual mortality. Weight loss in chronic disease comes from both fat and lean mass, and is known as cachexia. Both alterations in appetite and body weight loss occur in a wide variety of diseases, including cancer, heart failure, renal failure, chronic obstructive pulmonary disease and HIV. An increase in circulating inflammatory cytokines has been ...

  7. Myocardial Ischemia Assessment in Chronic Kidney Disease: Challenges and Pitfalls

    Directory of Open Access Journals (Sweden)

    Susie Fei Cen Parnham

    2014-12-01

    Full Text Available Coronary artery disease is the leading cause of mortality and morbidity in the chronic kidney disease population and often presents with atypical symptoms. Current diagnostic investigations of myocardial ischemia in chronic kidney disease lack sensitivity and specificity or may have adverse effects. We present a case vignette and explore the challenges of diagnostic myocardial stress investigation in patients with chronic kidney disease.

  8. [Pathogenesis of chronic obstructive pulmonary disease].

    Science.gov (United States)

    Vogelmeier, C; Koczulla, R; Fehrenbach, H; Bals, R

    2006-09-01

    It is currently believed that the most important factor in the pathogenesis of chronic obstructive pulmonary disease (COPD) is inflammation of the small airways caused by inhaled particles and gases. In this context, a disturbance of the physiological balance between proteases and antiproteases develops that may cause lung emphysema. Moreover, oxidative stress seems to be important, as it may enhance the inflammatory reaction. The development of emphysema may also involve a loss of alveolar cells by apoptosis. Finally, several studies have indicated that a systemic inflammation is induced by COPD that may be of relevance to the development of systemic components that are observed in COPD patients. PMID:16845536

  9. Chronic obstructive pulmonary disease in women

    OpenAIRE

    Louis Laviolette; Yves Lacasse; Mariève Doucet; Miriam Lacasse; Karine Marquis; Didier Saey; Pierre Leblanc; François Maltais

    2007-01-01

    BACKGROUND: Little is known about the comparative impact of chronic obstructive pulmonary disease (COPD) between women and men and about women’s response to pulmonary rehabilitation.OBJECTIVES: To compare lung function, disability, mortality and response to pulmonary rehabilitation between women and men with COPD.METHODS: In the present retrospective study, 68 women (mean age 62.5±8.9 years) and 168 men (mean age 66.3±8.4 years) were evaluated by means of pulmonary function testing and an inc...

  10. Vitamin K Status in Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Rachel M. Holden

    2013-11-01

    Full Text Available The purpose of this review is to summarize the research to date on vitamin K status in chronic kidney disease (CKD. This review includes a summary of the data available on vitamin K status in patients across the spectrum of CKD as well as the link between vitamin K deficiency in CKD and bone dynamics, including mineralization and demineralization, as well as ectopic mineralization. It also describes two current clinical trials that are underway evaluating vitamin K treatment in CKD patients. These data may inform future clinical practice in this population.

  11. [Prevention of Chronic Kidney Disease and strategies to counteract chronic diseases in Italy].

    Science.gov (United States)

    Mastrilli, Valeria; D'Elia, Roberto; Galeone, Daniela

    2016-01-01

    The Prevention of Chronic Kidney Disease (CKD) is placed in the more general context of prevention of major chronic Non Communicable Diseases (NCDs): cardiovascular diseases, diabetes, chronic lung diseases and tumors that are the main problem for public health worldwide. Any health policy strategy aimed to the prevention of NCDs has to provide knowledge of health and socioeconomic status of the population, to reduce the level of exposure to risk factors and to adapt health services to the request for assistance. To this purpose, population monitoring systems have been implemented in the last years. The NCDs share some risk factors that are related, in large part, to unhealthy individual behaviours: smoking, alcohol abuse, unhealthy diet and physical inactivity. NCDs prevention has to be understood as the set of all actions, sanitary and not, aiming to prevent or delay the onset of diseases or their complications. Preventive measures should, therefore, involve not only the health sector but also all the actors that can help to prevent that disease. As for the Prevention of CKD, the Ministry of Health has established a working table, which handled the Drafting of the "Position paper for the CKD", approved in the State-Regions Conference on august 8th 2014. The document draws a national strategy to combat this disease through primary prevention, early diagnosis and the establishment of diagnostic - therapeutic pathways (DTP). PMID:27545630

  12. Update on the "Dutch hypothesis" for chronic respiratory disease

    DEFF Research Database (Denmark)

    Vestbo, J; Prescott, E

    1998-01-01

    BACKGROUND: Many patients with chronic obstructive lung disease show increased airways responsiveness to histamine. We investigated the hypothesis that increased airways responsiveness predicts the development and remission of chronic respiratory symptoms. METHODS: We used data from 24-year follow...

  13. Tobacco smoking and chronic destructive periodontal disease.

    Science.gov (United States)

    Bergström, Jan

    2004-09-01

    Tobacco smoking is the main risk factor associated with chronic destructive periodontal disease. No other known factor can match the strength of smoking in causing harm to the periodontium. The harmful effects manifest themselves by interfering with vascular and immunologic reactions, as well as by undermining the supportive functions of the periodontal tissues. The typical characteristic of smoking-associated periodontal disease is the destruction of the supporting tissues of the teeth, with the ensuing clinical symptoms of bone loss, attachment loss, pocket formation, and eventually tooth loss. A review of the international literature that has accumulated over the past 20 years offers convincing evidence that smokers exhibit greater bone loss and attachment loss, as well as more pronounced frequencies of periodontal pockets, than non-smokers do. In addition, tooth loss is more extensive in smokers. Smoking, thus, considerably increases the risk for destructive periodontal disease. Depending on the definition of disease and the exposure to smoking, the risk is 5- to 20-fold elevated for a smoker compared to a never-smoker. For a smoker exposed to heavy long-life smoking, the risk of attracting destructive periodontal disease is equivalent to that of attracting lung cancer. The outcome of periodontal treatment is less favorable or even unfavorable in smokers. Although long-term studies are rare, available studies unanimously agree that treatment failures and relapse of disease are predominantly seen in smokers. This contention is valid irrespective of treatment modality, suggesting that smoking will interfere with an expected normal outcome following commonplace periodontal therapies. The majority of available studies agree that the subgingival microflora of smokers and non-smokers are no different given other conditions. As a consequence, the elevated morbidity in smokers does not depend on particular microflora. The mechanisms behind the destructive effects of

  14. [Neurourological signs of chronic cerebral vascular diseases].

    Science.gov (United States)

    Shvarts, P G; Dutov, V V; Kadykov, A S; Shvedkov, V V; Popov, S V; Plotnikov, A N

    2013-01-01

    Disorders of urination, along with motor and cognitive disorders, are characteristic of different forms of chronic cerebral vascular diseases (CCVD). Irritation symptoms are more frequent in subcortical arteriosclerotic encephalopathy (SAE) and multi infarct hypertonic encephalopathy (MIHE). Overactive urine bladder syndrome (OUBS) caused by neurogenic detrusive hyperactivity manifests itself in frequent urination, nocturia and imperative enuresis and thus decreases quality of life and results in disability of patents with CCVD. At the same time, the character of symptoms points indirectly to the localization of lacunar infarction or the extent of severity of leukoareosis. It is the most frequent form of disorders of urination in the first years of disease that significantly aggravates its course and needs timed diagnosis and pharmacological treatment. Competitive antagonists of muscarinic receptors M2, M3 subtypes are the most effective drugs for treatment of OUBS comorbid to CCVD. PMID:23994932

  15. Chronic obstructive pulmonary disease: an overview.

    Science.gov (United States)

    Duncan, Deborah

    As chronic obstructive pulmonary disease (COPD) is one of the major causes of worldwide mortality, it is important to prevent, diagnose and manage it. COPD creates a huge burden on the NHS and has a significant impact on patients. This is a problem with the increase in morbidity and mortality rates. In primary care there is a lack of knowledge, under-use of quality-assured spirometry and under-diagnosis in about half of all cases. To be able to effectively diagnose, assess and manage COPD, health professionals must understand the physiology and aetiology of the disease. COPD is similar to asthma in its presentation and physiology but management of the condition can differ. The authors therefore looked at the similarities between the two conditions and what tests one can use to make a diagnosis of COPD. PMID:27081728

  16. Achieving Salt Restriction in Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Emma J. McMahon

    2012-01-01

    Full Text Available There is consistent evidence linking excessive dietary sodium intake to risk factors for cardiovascular disease and chronic kidney disease (CKD progression in CKD patients; however, additional research is needed. In research trials and clinical practice, implementing and monitoring sodium intake present significant challenges. Epidemiological studies have shown that sodium intake remains high, and intervention studies have reported varied success with participant adherence to a sodium-restricted diet. Examining barriers to sodium restriction, as well as factors that predict adherence to a low sodium diet, can aid researchers and clinicians in implementing a sodium-restricted diet. In this paper, we critically review methods for measuring sodium intake with a specific focus on CKD patients, appraise dietary adherence, and factors that have optimized sodium restriction in key research trials and discuss barriers to sodium restriction and factors that must be considered when recommending a sodium-restricted diet.

  17. Treatment of stable chronic obstructive pulmonary disease.

    Science.gov (United States)

    Rennard, Stephen I

    Chronic obstructive pulmonary disease (COPD) is a readily diagnosable disorder that responds to treatment. Smoking cessation can reduce symptoms and prevent progression of disease. Bronchodilator therapy is key in improvement of lung function. Three classes of bronchodilators-beta agonists, anticholinergics, and theophylline-are available and can be used individually or in combination. Inhaled glucocorticoids can also improve airflow and can be combined with bronchodilators. Inhaled glucocorticoids, in addition, might reduce exacerbation frequency and severity as might some bronchodilators. Effective use of pharmacotherapy in COPD needs integration with a rehabilitation programme and successful treatment of co-morbidities, including depression and anxiety. Treatment for stable COPD can improve the function and quality of life of many patients, could reduce admissions to hospital, and has been suggested to improve survival. PMID:15337408

  18. Psoriasis: experiencing a chronic skin disease.

    Science.gov (United States)

    Chrissopoulos, A; Cleaver, G

    1996-03-01

    Psoriasis is an incurable chronic skin disease that affects one in fifty people. Psychological factors play a role in the aetiology and experience of psoriasis but there is little pertaining to the psychological experience of psoriasis in research literature. In this study the phenomenological approach is used to describe the everyday experiences of a person with psoriasis. By using Giorgi's (1985) steps of data analysis a description of the lifeworld of the person with psoriasis was compiled. The description presented several essential components of the experience of psoriasis and the results emphasize the effects of the disease on the sufferer's life. Problematic interpersonal relationships, a negative selfconcept, fluctuating moods, loss of control, negativity and loneliness are a part of this experience. It is hoped that knowledge of the world of the psoriasis sufferer will assist the help professions to understanding and empathize with the suffering and limitations that psoriasis brings. PMID:9257576

  19. [Chronic ischaemic heart disease in the elderly].

    Science.gov (United States)

    Martínez-Sellés, Manuel; Gómez Huelgas, Ricardo; Abu-Assi, Emad; Calderón, Alberto; Vidán, María Teresa

    2016-01-01

    It is the aim of this manuscript to take into account the peculiarities and specific characteristics of elderly patients with chronic ischaemic heart disease from a multidisciplinary perspective, with the participation of the Spanish Society of Cardiology (sections of Geriatric Cardiology and Ischaemic Heart Disease/Acute Cardiovascular Care), the Spanish Society of Internal Medicine, the Spanish Society of Primary Care Physicians and the Spanish Society of Geriatrics and Gerontology. This consensus document shows that in order to adequately address these elderly patients a comprehensive assessment is needed, which includes comorbidity, frailty, functional status, polypharmacy and drug interactions. We conclude that in most patients medical treatment is the best option and that this treatment must take into account the above factors and the biological changes associated with aging. PMID:27102136

  20. Chronic Liver Disease: Stem Cell Therapy

    Directory of Open Access Journals (Sweden)

    Gamal MA Hassan

    2013-03-01

    Full Text Available Chronic liver diseases (CLD affect hundreds of millions of patientsworldwide. Stem Cells (SCs therapy to treat chronic liver diseasesis resorted and is considered as the dream of the future. AlthoughSCs are a promising means for treatment of liver diseases, studiesare still at the beginning of this era. SCs are undifferentiatedcells capable of renewing themselves throughout their life and ofgenerating one or more types of differentiated cells. Different typesof SCs with hepatic differentiation potential are theoretically eligiblefor liver cell replacement. These include Embryonic and fetal liverSCs, induced pluripotent SCs, hepatoblasts, annex SCs (pluripotentSCs obtained from umbilical cord and umbilical cord blood,placenta and amniotic fluid, and adult SCs, such hepatic progenitorcells, hematopoietic SCs, and mesenchymal stem cell. The optimalSCs delivery route should be easy to perform, less invasive andtraumatic, minimum side effects, and with high cells survival rate.Liver SCs can be transplanted through several routes: Intraperitonealand percutaneous intrahepatic artery catheterization in acute liverfailure, and umbilical vein catheterization, percutaneous intrahepaticroute, and portal vein or intrahepatic artery catheterization inmetabolic liver diseases. Whatever the source or delivery route ofSCs, how they can be manipulated for therapeutic interventionsin a variety of hepatic diseases is of course of great interest infuture studies. Although all clinical trials to date have shown someimprovement in liver function and CD34+ cells have been usedsafely for bone marrow transplantation for over 20 years, onlyrandomized controlled clinical trials will be able to fully assess thepotential clinical benefit of adult SCs therapy for patients with CLD.

  1. Chronic Pulmonary Complications of Sickle Cell Disease.

    Science.gov (United States)

    Mehari, Alem; Klings, Elizabeth S

    2016-05-01

    Sickle cell disease (SCD), the most common genetic hemolytic anemia worldwide, affects 250,000 births annually. In the United States, SCD affects approximately 100,000 individuals, most of African descent. Hemoglobin S (HbS) results from a glutamate-to-valine mutation of the sixth codon of the β-hemoglobin allele; the homozygous genotype (HbSS) is associated with the most prevalent and severe form of the disease. Other SCD genotypes include HbSC, composed of one HbS allele and one HbC (glutamate-to-lysine mutation) allele; and HbS-β-thalassemia(0) or HbS-β-thalassemia(+), composed of one HbS allele and one β-thalassemia allele with absent or reduced β-chain production, respectively. Despite advances in care, median survival remains in the fifth decade, due in large part to chronic complications of the disease. Chronic pulmonary complications in SCD are major contributors to this early mortality. Although our understanding of these conditions has improved much over the past 10 to 15 years, there remains no specific treatment for pulmonary complications of SCD. It is unclear whether conventional treatment regimens directed at non-SCD populations have equivalent efficacy in patients with SCD. This represents a critical research need. In this review, the authors review the state-of-the-art understanding of the following pulmonary complications of SCD: (1) pulmonary hypertension; (2) venous thromboembolic disease; (3) sleep-disordered breathing; (4) asthma and recurrent wheezing; and (5) pulmonary function abnormalities. This review highlights the advances as well as the knowledge gaps in this field to update clinicians and other health care providers and to garner research interest from the medical community. PMID:26836905

  2. Spiritual Needs of Patients with Chronic Diseases

    Directory of Open Access Journals (Sweden)

    Harold G. Koenig

    2010-11-01

    Full Text Available For many patients confronted with chronic diseases, spirituality/religiosity is an important resource for coping. Patients often report unmet spiritual and existential needs, and spiritual support is also associated with better quality of life. Caring for spiritual, existential and psychosocial needs is not only relevant to patients at the end of their life but also to those suffering from long-term chronic illnesses. Spiritual needs may not always be associated with life satisfaction, but sometimes with anxiety, and can be interpreted as the patients’ longing for spiritual well-being. The needs for peace, health and social support are universal human needs and are of special importance to patients with long lasting courses of disease. The factor, Actively Giving, may be of particular importance because it can be interpreted as patients’ intention to leave the role of a `passive sufferer´ to become an active, self-actualizing, giving individual. One can identify four core dimensions of spiritual needs, i.e., Connection, Peace, Meaning/Purpose, and Transcendence, which can be attributed to underlying psychosocial, emotional, existential, and religious needs. The proposed model can provide a conceptual framework for further research and clinical practice. In fact, health care that addresses patients’ physical, emotional, social, existential and spiritual needs (referring to a bio-psychosocial-spiritual model of health care will contribute to patients’ improvement and recovery. Nevertheless, there are several barriers in the health care system that makes it difficult to adequately address these needs.

  3. Cardiovascular Disease and Chronic Inflammation in End Stage Kidney Disease

    Directory of Open Access Journals (Sweden)

    Sofia Zyga

    2013-01-01

    Full Text Available Background: Chronic Kidney Disease (CKD is one of the most severe diseases worldwide. In patients affected by CKD, a progressive destruction of the nephrons is observed not only in structuralbut also in functional level. Atherosclerosis is a progressive disease of large and medium-sized arteries. It is characterized by the deposition of lipids and fibrous elements and is a common complication of the uremic syndrome because of the coexistence of a wide range of risk factors. High blood pressure, anaemia, insulin resistance, inflammation, high oxidative stress are some of the most common factors that cause cardiovascular disease and atherogenesis in patients suffering from End Stage Kidney Disease (ESRD. At the same time, the inflammatory process constitutes a common element in the apparition and development of CKD. A wide range of possible causes can justify the development of inflammation under uremic conditions. Such causes are oxidative stress, oxidation, coexistentpathological conditions as well as factors that are due to renal clearance techniques. Patients in ESRD and coronary disease usually show increased acute phase products. Pre-inflammatory cytokines, such as IL-6 and TNF-a, and acute phase reactants, such as CRP and fibrinogen, are closely related. The treatment of chronic inflammation in CKD is of high importance for the development ofthe disease as well as for the treatment of cardiovascular morbidity.Conclusions: The treatment factors focus on the use of renin-angiotensic system inhibitors, acetylsalicylic acid, statins and anti-oxidant treatment in order to prevent the action of inflammatorycytokines that have the ability to activate the mechanisms of inflammation.

  4. Nutrition for Early Chronic Kidney Disease in Adults

    Science.gov (United States)

    ... Disease Organizations​​ . (PDF, 345 KB)​​​​​ Alternate Language URL Nutrition for Early Chronic Kidney Disease in Adults Page ... choices? Points to Remember Clinical Trials Why is nutrition important for someone with early chronic kidney disease ( ...

  5. Chronic obstructive pulmonary disease and peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Gupta Prem

    2006-01-01

    Full Text Available Chronic obstructive pulmonary disease (COPD is the fourth leading cause of death world-wide and a further increase in the prevalence as well as mortality of the disease is predicted for coming decades. There is now an increased appreciation for the need to build awareness regarding COPD and to help the thousands of people who suffer from this disease and die prematurely from COPD or its associated complication(s. Peripheral neuropathy in COPD has received scanty attention despite the fact that very often clinicians come across COPD patients having clinical features suggestive of peripheral neuropathy. Electrophysiological tests like nerve conduction studies are required to distinguish between axonal and demyelinating type of disorder that cannot be analyzed by clinical examination alone. However, various studies addressing peripheral neuropathy in COPD carried out so far have included patients with COPD having markedly varying baseline characteristics like severe hypoxemia, elderly patients, those with long duration of illness, etc. that are not uniform across the studies and make it difficult to interpret the results to a consistent conclusion. Almost one-third of COPD patients have clinical evidence of peripheral neuropathy and two-thirds have electrophysiological abnormalities. Some patients with no clinical indication of peripheral neuropathy do have electrophysiological deficit suggestive of peripheral neuropathy. The more frequent presentation consists of a polyneuropathy that is subclinical or with predominantly sensory signs, and the neurophysiological and pathological features of predominantly axonal neuropathy. The presumed etiopathogenic factors are multiple: chronic hypoxia, tobacco smoke, alcoholism, malnutrition and adverse effects of certain drugs.

  6. Current treatment in chronic obstructive pulmonary disease

    Institute of Scientific and Technical Information of China (English)

    李嘉惠

    2008-01-01

    Chronic obstructive pulmonary disease (COPD) is defined by fixed airflow limitation associated with an abnormal pulmonary and systemic inflammatory response of the lungs to cigarette smoke. COPD represents an increasing burden worldwide, reported to be the sixth leading cause of death in 1990 and the fourth in 2000. Discouragingly, it is projected to jump to third place by the year 2020.There is increasing evidence that COPD is a more complex systemic disease than an airway and lung disease. In particular, cachexia, skeletal muscle abnormalities, diabetes, coronary artery disease, heart failure, cancer and pulmonary vascular disease are the most common comorbidities. It is associated with a wide variety of systemic consequences, most notably systemic inflammation. Because COPD patients have in general ahigher cardiovascular risk than the average population, cardiovascular safety in a COPD medication is of critical importance.SINGH et al performed a systematic review and recta-analysis of 17 clinical trials enrolling 14 783 patients treated with inhaled anticholinergic drugs used for the treatment of COPD. Inhaled anticholinergics significantly increased the risk of cardiovascular death, MI, or stroke ( 1.8 % vs 1.2 % for control; RR, 1.58 (95 % CI,1.21 - 2.06); P < 0.001 ). However, UPLIIFT (Understanding the Potential Long-Term Impacts on Function with Tiotropium) , a large, 4-year, placebo controlled clinical trial with tiotropium in approximately 6 000 patients with COPD. The preliminary results of UPLIFT showed that there was no increased risk of stroke with tiotropium bromide compared to placebo.A meta-analysis is always considered less convincing than a large prospective trial designed to assess the outcome of interest. However, COPD is a systemic disease. COPD management needs to focus on four major areas: smoking cessation, pharmacologic therapy, exercise training, and pulmonary rehabilitation. Clinicians and patients should always carefully consider any

  7. The Evolution of Integrated Chronic Disease Prevention in Alberta, Canada

    OpenAIRE

    Raine, Kim; Wolbeck Minke, Sharlene; Khalema, Ernest; Smith, Cynthia; Plotnikoff, Ronald C.

    2006-01-01

    Background Recognition of the common risk factors for leading chronic diseases in Canada has contributed to the development of integrated chronic disease prevention and health promotion approaches. The Alberta Heart Health Project studied the capacity of health organizations in Alberta, Canada, to engage in heart health promotion. This article describes how the Alberta Heart Health Project acted on emerging research findings describing the preliminary stages of integrated chronic disease prev...

  8. Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases

    Science.gov (United States)

    2015-12-01

    Severe Combined Immunodeficiency (SCID); Immunodeficiency With Predominant T-cell Defect, Unspecified; Severe Chronic Neutropenia; Chronic Granulomatous Disease (CGD); Hyper IgE Syndromes; Hyper IgM Deficiencies; Wiskott-Aldrich Syndrome; Mendelian Susceptibility to Mycobacterial Disease; Common Variable Immune Deficiency (CVID)

  9. Exploring metabolic dysfunction in chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Slee Adrian D

    2012-04-01

    Full Text Available Abstract Impaired kidney function and chronic kidney disease (CKD leading to kidney failure and end-stage renal disease (ESRD is a serious medical condition associated with increased morbidity, mortality, and in particular cardiovascular disease (CVD risk. CKD is associated with multiple physiological and metabolic disturbances, including hypertension, dyslipidemia and the anorexia-cachexia syndrome which are linked to poor outcomes. Specific hormonal, inflammatory, and nutritional-metabolic factors may play key roles in CKD development and pathogenesis. These include raised proinflammatory cytokines, such as interleukin-1 and −6, tumor necrosis factor, altered hepatic acute phase proteins, including reduced albumin, increased C-reactive protein, and perturbations in normal anabolic hormone responses with reduced growth hormone-insulin-like growth factor-1 axis activity. Others include hyperactivation of the renin-angiotensin aldosterone system (RAAS, with angiotensin II and aldosterone implicated in hypertension and the promotion of insulin resistance, and subsequent pharmacological blockade shown to improve blood pressure, metabolic control and offer reno-protective effects. Abnormal adipocytokine levels including leptin and adiponectin may further promote the insulin resistant, and proinflammatory state in CKD. Ghrelin may be also implicated and controversial studies suggest activities may be reduced in human CKD, and may provide a rationale for administration of acyl-ghrelin. Poor vitamin D status has also been associated with patient outcome and CVD risk and may indicate a role for supplementation. Glucocorticoid activities traditionally known for their involvement in the pathogenesis of a number of disease states are increased and may be implicated in CKD-associated hypertension, insulin resistance, diabetes risk and cachexia, both directly and indirectly through effects on other systems including activation of the mineralcorticoid

  10. MR imaging of chronic infiltrative lung disease

    International Nuclear Information System (INIS)

    To assess the potential role of MR imaging in chronic infiltrative lung disease (CILD) by comparison with high-resolution CT (HRCT). Twenty patients with proved CILD (six with UIP, six with sarcoidosis, two with extrinsic allergic alveolities [EAA], and six miscellaneous) underwent 1.5-T MR imaging and HRCT of the chest. Cardiac-gated T1 (TR, 800 msec; TE, 20 msec) and proton density and T2 (TR, 2,000 msec; TE, 30/80 msec) sequences were performed. The MR images were reviewed by two chest radiologists, and the findings were compared with the HRCT scans. HRCT was superior to MR imaging in the anatomic assessment of the lung parenchyma and in the demonstration of mild fibrosis. However, MR images provided greater contrast between areas of airspace opacification and normal lung than did MRCT. In two patients with UIP, two with sarcoidosis, and two with EAA, MR images demonstrated airspace opacification not readily apparent on CT scans. In the two patients with EAA, the EAA had initially been missed with HRCT. HRCT is superior to MR imaging in anatomic assessment of the lung. However, the increased contrast on MR images allows better assessment of the presence and extent of airspace opacification, which has been shown to reflect disease activity. MR imaging may play an important role in the assessment of disease activity and response to treatment in patients with CILD

  11. Thyroid Disorders and Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Mohamed Mohamedali

    2014-01-01

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

  12. Granulomatous Amoebic Encephalitis: Clinical Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Naveed A. Khan

    2005-01-01

    Full Text Available Granulomatous amoebic encephalitis (GAE is a serious human disease with fatal consequences. With the mortality rate of more than 90%, it is not surprising that the majority of GAE infections are identified at the post-mortem stage. The most distressing aspect is that the high level of mortality is attributed to lack of awareness. Early diagnosis with aggressive treatment can lead to successful prognosis for the patient. Here, we describe a brief overview of the current understanding of the pathophysiology of GAE, available diagnostic methods, possible therapeutic interventions and the causative agents.

  13. Invasive Aspergillus infections in hospitalized patients with chronic lung disease

    Directory of Open Access Journals (Sweden)

    Wessolossky M

    2013-05-01

    Full Text Available Mireya Wessolossky,1 Verna L Welch,2 Ajanta Sen,1 Tara M Babu,1 David R Luke21Division of Infectious Diseases, University of Massachusetts Medical School, Worcester, MA, USA; 2Medical Affairs, Pfizer Inc, Collegeville, PA, USABackground: Although invasive pulmonary aspergillosis (IPA is more prevalent in immunocompromised patients, critical care clinicians need to be aware of the occurrence of IPA in the nontraditional host, such as a patient with chronic lung disease. The purpose of this study was to describe the IPA patient with chronic lung disease and compare the data with that of immunocompromised patients.Methods: The records of 351 patients with Aspergillus were evaluated in this single-center, retrospective study for evidence and outcomes of IPA. The outcomes of 57 patients with chronic lung disease and 56 immunocompromised patients were compared. Patients with chronic lung disease were defined by one of the following descriptive terms: emphysema, asthma, idiopathic lung disease, bronchitis, bronchiectasis, sarcoid, or pulmonary leukostasis.Results: Baseline demographics were similar between the two groups. Patients with chronic lung disease were primarily defined by emphysema (61% and asthma (18%, and immunocompromised patients primarily had malignancies (27% and bone marrow transplants (14%. A higher proportion of patients with chronic lung disease had a diagnosis of IPA by bronchoalveolar lavage versus the immunocompromised group (P < 0.03. The major risk factors for IPA were found to be steroid use in the chronic lung disease group and neutropenia and prior surgical procedures in the immunocompromised group. Overall, 53% and 69% of chronic lung disease and immunocompromised patients were cured (P = 0.14; 55% of chronic lung patients and 47% of immunocompromised patients survived one month (P = 0.75.Conclusion: Nontraditional patients with IPA, such as those with chronic lung disease, have outcomes and mortality similar to that in the

  14. Chronic Beryllium Disease Prevention Program Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S

    2012-03-29

    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.'

  15. Airway distensibility in Chronic Obstructive Airway Disease

    DEFF Research Database (Denmark)

    Winkler Wille, Mathilde Marie; Pedersen, Jesper Holst; Dirksen, Asger; Petersen, Jens; De Bruijne, Marleen

    2013-01-01

    airway distensibility, defined as the ratio of relative change in lumen diameter to the relative change in total lung volume (TLV) divided by predicted total lung capacity (pTLC) . Methods – We included 1900 participants from the Danish Lung Cancer Screening Trial (DLCST); all randomized to annual low......-dose CT for a period of 5 years (table 1). Images were reconstructed both with high contrast resolution (3 mm, kernel C) for emphysema analysis and with high spatial resolution (1 mm, kernel D) for airway analysis. Images were analysed by in-house developed software designed to segment lungs and localize......), 10-20% (mild), 20%-30% (moderate) or >30% (severe). Spirometry was performed annually and participants were divided into severity groups according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD). Data were analysed in a mixed effects regression model with log(airway lumen...

  16. Slowing progression of chronic kidney disease.

    Science.gov (United States)

    Drawz, Paul E; Rosenberg, Mark E

    2013-12-01

    Early identification of chronic kidney disease (CKD) provides an opportunity to implement therapies to improve kidney function and slow progression. The goal of this article is to review established and developing clinical therapies directed at slowing progression. The importance of controlling blood pressure will be discussed along with the target blood pressure that should be achieved in CKD patients. Therapy directed at inhibiting the renin-angiotensin-aldosterone system remains the mainstay of treatment with single-agent inhibition of this system being as good as dual blockade with fewer adverse effects. Other therapies that may be used include correction of metabolic acidosis, dietary protein restriction, and new models for delivering care to patients with CKD. Emerging therapies targeting endothelin, uric acid, kidney fibrosis, and oxidant stress hold promise for the future. PMID:25019022

  17. The pathology of chronic obstructive pulmonary disease.

    Science.gov (United States)

    Hogg, James C; Timens, Wim

    2009-01-01

    The pathogenesis of chronic obstructive pulmonary disease (COPD) is based on the innate and adaptive inflammatory immune response to the inhalation of toxic particles and gases. Although tobacco smoking is the primary cause of this inhalation injury, many other environmental and occupational exposures contribute to the pathology of COPD. The immune inflammatory changes associated with COPD are linked to a tissue-repair and -remodeling process that increases mucus production and causes emphysematous destruction of the gas-exchanging surface of the lung. The common form of emphysema observed in smokers begins in the respiratory bronchioles near the thickened and narrowed small bronchioles that become the major site of obstruction in COPD. The mechanism(s) that allow small airways to thicken in such close proximity to lung tissue undergoing emphysematous destruction remains a puzzle that needs to be solved. PMID:18954287

  18. Growth hormone in chronic renal disease

    Directory of Open Access Journals (Sweden)

    Vishal Gupta

    2012-01-01

    Full Text Available Severe growth retardation (below the third percentile for height is seen in up to one-third children with chronic kidney disease. It is thought to be multifactorial and despite optimal medical therapy most children are unable to reach their normal height. Under-nutrition, anemia, vitamin D deficiency with secondary hyperparathyroidism, metabolic acidosis, hyperphosphatemia, renal osteodystrophy; abnormalities in the growth hormone/insulin like growth factor system and sex steroids, all have been implicated in the pathogenesis of growth failure. Therapy includes optimization of nutritional and metabolic abnormalities. Failure to achieve adequate height despite 3-6 months of optimal medical measures mandates the use of recombinant GH (rGH therapy, which has shown to result in catch-up growth, anywhere from 2 cm to 10 cm with satisfactory liner, somatic and psychological development.

  19. Chronic Kidney Disease in Southwestern Iranian Children

    Directory of Open Access Journals (Sweden)

    Ali Ahmadzadeh

    2009-06-01

    Full Text Available Objective:The aim of the study was to determine the etiology of Chronic Kidney Disease (CKD among children attending the pediatric nephrology service at Abuzar children's hospital in Ahvaz city, the referral center in Southwest of Iran.Methods:We reviewed the records of 139 children, diagnosed to have CKD over a 10-year period. CKD was defined a glomerular filtration rate (GFR below 60 ml/1.73 m2/min persisting for more than 3 months.Findings: Among 139 children 81 (58% were males. The mean age at diagnosis of CKD in the patients was 4.2 (�3.6 years. Mean level of serum creatinine at presentation was 1.9 (�1.4 mg/dl. The mean GFR at presentation was 33.5 (�15.4 ml/1.73m2/min while 22% of the patients were already at end stage renal failure indicating that these children were referred too late. Congenital urologic malformation was the commonest cause of CKD present in 70 (50.4% children [reflux nephropathy (23.1%, hypo/dysplastic kidney (15.8%, obstructive uropathy (10.8%, and prune belly syndrome (0.7%]. Other causes included hereditary nephropathies (17.2%, chronic glomerulo-nephritis (6.5%, multisystemic diseases (4.3%, miscellaneous and unknown (each one 10.8%. The mean duration of follow-up was 26 (�24.67 months. Peritoneal or hemodialysis was performed in 10 patients. Six patients underwent (4 live-related and 2 non-related renal transplantation. The rest have died or received standard conservative management for CKD.Conclusion: The commonest causes of CKD were reflux nephropathy, hypo/dysplastic kidney, hereditary nephropathy and obstructive uropathy. Patients presented late, had severe CKD and were malnourished and stunted.

  20. Chronic Kidney Disease in Southwestern Iranian Children

    Directory of Open Access Journals (Sweden)

    Mehrnaz Zangeneh Kamali

    2009-04-01

    Full Text Available Objective: The aim of the study was to determine the etiology of Chronic Kidney Disease (CKD among children attending the pediatric nephrology service at Abuzar children's hospital in Ahvaz city, the referral center in Southwest of Iran.Methods: We reviewed the records of 139 children, diagnosed to have CKD over a 10-year period. CKD was defined a glomerular filtration rate (GFR below 60 ml/1.73 m2/min persisting for more than 3 months.Findings: Among 139 children 81 (58% were males. The mean age at diagnosis of CKD in the patients was 4.2 (±3.6 years. Mean level of serum creatinine at presentation was 1.9 (±1.4 mg/dl. The mean GFR at presentation was 33.5 (±15.4 ml/1.73m2/min while 22% of the patients were already at end stage renal failure indicating that these children were referred too late. Congenital urologic malformation was the commonest cause of CKD present in 70 (50.4% children [reflux nephropathy (23.1%, hypo/dysplastic kidney (15.8%, obstructive uropathy (10.8%, and prune belly syndrome (0.7%]. Other causes included hereditary nephropathies (17.2%, chronic glomerulo-nephritis (6.5%, multisystemic diseases (4.3%, miscellaneous and unknown (each one 10.8%. The mean duration of follow-up was 26 (±24.67 months. Peritoneal or hemodialysis was performed in 10 patients. Six patients underwent (4 live-related and 2 non-related renal transplantation. The rest have died or received standard conservative management for CKD.Conclusion: The commonest causes of CKD were reflux nephropathy, hypo/dysplastic kidney, hereditary nephropathy and obstructive uropathy. Patients presented late, had severe CKD and were malnourished and stunted.

  1. Clinical Practice Guidelines for Severe Chronic Obstructive Pulmonary Disease.

    OpenAIRE

    Niurka Mercedes Galende Hernández; Diosdania Alfonso Falcón; Carlos Alberto Martell Alonso; Alexis Díaz Mesa; Inti Santana Carballosa

    2009-01-01

    Clinical Practice Guidelines for Severe Chronic Obstructive Pulmonary Disease. This concept includes simple chronic bronchitis, asthmatic bronchitis, chronic obstructive bronchitis, and pulmonary emphysema; although this two last are the most commonly included. Risk factors, classification and treatment are commented, stressing the strategy of mechanical ventilation and the indications for mechanical invasive and no invasive ventilation. It includes assessment guidelines focused on the most i...

  2. Utility of fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography in a child with chronic granulomatous disease.

    Science.gov (United States)

    Garg, Gunjan; DaSilva, Raphaella; Bhalakia, Avni; Milstein, David M

    2016-01-01

    We report the fluorodeoxyglucose positron emission tomography/computed tomography (FDG - PET/CT) findings in an 11-month-old boy with suspected milk protein allergy, presented to the hospital with 2-month history of fever of unknown origin and failure to thrive. It showed FDG avid lymphadenopathy above and below the diaphragm and splenic focus, which could represent diffuse inflammatory process or lymphoma. Subsequent jejunal biopsy showed non-necrotizing granulomas. PMID:26917900

  3. Travoprost Induced Granulomatous Anterior Uveitis

    Science.gov (United States)

    Chiam, Patrick

    2011-01-01

    Purpose. To report a case of granulomatous anterior uveitis caused by travoprost. Methods. Single observational case report. Results. A 71-year-old who was fit and healthy presented with bilateral granulomatous anterior uveitis 2 months after he was started on travoprost in both eyes. There was no past history of uveitis. Blood test and radiological investigation were unremarkable. Travoprost was stopped. The uveitis resolved on topical steroid treatment. A rechallenge with travoprost was attempted in one eye. The inflammation recurred in this eye only. This subsided with the cessation of travoprost alone without topical steroid. Conclusion. This is the first case report of travoprost causing granulomatous anterior uveitis. The uveitis recurred with a rechallenge. Changing the prostaglandin analogue to another topical treatment may be adequate to cease the inflammation. PMID:22606464

  4. Association between chronic obstructive pulmonary disease and periodontal disease

    Directory of Open Access Journals (Sweden)

    Abdulsamet Tanik

    2015-06-01

    Full Text Available Chronic Obstructive Pulmonary Disease (COPD morbidity and mortality is high and increasing levels of a disease. COPD is becoming a growing epidemic due to smoking consumption especially in developing countries all over the world. Above the age of forty, affects adult population contributing to the community. COPD is characterized by a progressive, irreversible limitation of airflow associated with an abnormal inflammatory response to noxious particles or gases. It is caused primarily by smoking. In many studies, systemic conditions such as COPD were found to be a risk factor for periodontitis. In many studies with bacteria, has proven to be the same microorganisms in the oral cavity with microorganisms which lung infection. Therefore, on this subject, longer, with the large populations, clinical, microbiological and epidemiological studies are needed.

  5. Chronic Liver Disease and Asian Americans/Pacific Islanders

    Science.gov (United States)

    ... Program Grants Other Grants Planning and Evaluation Grantee Best Practices Asian American Asthma Cancer Chronic Liver Disease Diabetes Heart Disease Hepatitis HIV/AIDS Immunizations Infant Heath & Mortality Mental Health Obesity Organ and Tissue Donation Stroke Stay Connected ...

  6. BCG induced granulomatous prostatitis ; a case report

    International Nuclear Information System (INIS)

    Granulomatous prostatitis was relatively uncommon until the introduction of intravesical BCG for the treament of bladder cancer. Since that time, there has been an increase in the number of cases of granulomatous prostatitis, but the domestic literature contains no report. We recently encountered a classic case of BCG induced granulomatous prostatitis and describe this case, including its radiologic findings. (author)=20

  7. Idiopathic granulomatous mastitis: Long-discussed but yet-to-be-known.

    Science.gov (United States)

    Sheybani, Fereshte; Naderi, Hamid Reza; Gharib, Masoumeh; Sarvghad, MohammadReza; Mirfeizi, Zahra

    2016-06-01

    Idiopathic granulomatous mastitis (IGM) is a chronic benign inflammatory disease of the breast with unknown etiology. It is an important diagnostic and therapeutic challenge, as most patients were initially misdiagnosed by their primary care physicians, leading to diagnostic confusion and heightened anxiety. Although several triggers have been proposed for development of IGM, the etiologic association of neither of them has been documented. Three main hypotheses about the possible causes of IGM have been suggested, including autoimmune response, infectious disease, and hormonal disruption. Here, we discuss a hypothetical perspective of IGM to explain the possible role of autoinflammation in the pathogenesis of the disease. We also reviewed the previously published literature on pathogenesis of IGM. PMID:26829298

  8. Vegetarian diets, chronic diseases and longevity.

    Science.gov (United States)

    Ginter, E

    2008-01-01

    Vegetarians form a non-homogenous group consisting of semivegetarians (plant food, dairy products, eggs and fish), lacto-ovo vegetarians (plant food, dairy products, eggs) and vegans (plant food only). According to pure vegetarian ideologists, people consuming vegetarian diet have better health and live longer than nonvegetarians, because persons consuming milk, dairy products, meat, eggs and fish are at health risk. In fact the most healthy people in Europe are inhabitants of Iceland, Switzerland and Scandinavia, consuming great amounts of food of animal origin. Meta-analysis of several prospective studies showed no significant differences in the mortality caused by colorectal, stomach, lung, prostate or breast cancers and stroke between vegetarians and "health-conscious" nonvegetarians. In vegetarians, a decrease of ischemic heart disease mortality was observed probably due to lower total serum cholesterol levels, lower prevalence of obesity and higher consumption of antioxidants. Very probably, an ample consumption of fruits and vegetables and not the exclusion of meat make vegetarians healthful. Now, the largest cohort study of diet and health on more than half million of persons, the European Prospective Investigation into Cancer and Nutrition (EPIC) study, will bring new data on the relationships between diet, lifestyle and environmental factors and the incidence of cancer, cardiovascular and other chronic diseases. Vegetarianism is a form of food restriction; and in our overfed society, food restriction is a plus unless it results in a nutritional deficiency (Fig. 1, Tab. 2, Ref. 18). PMID:19166134

  9. Diphenhydramine disposition in chronic liver disease.

    Science.gov (United States)

    Meredith, C G; Christian, C D; Johnson, R F; Madhavan, S V; Schenker, S

    1984-04-01

    Diphenhydramine (DPHM) disposition was examined in nine patients with chronic alcohol-related liver disease and in eight normal subjects. Sleep of 1 to 2 hr duration was induced in all subjects by a 0.8 mg/kg iv dose without an apparent increase in cerebral sensitivity in the patients with cirrhosis. Protein binding as determined by equilibrium dialysis (3H-DPHM) revealed a 15% decrease in the cirrhotic patients, while recovery of unchanged DPHM in urine (2%) was of the same order in the two groups. Computerized biexponential curve analysis was used to compare the plasma profiles for five of the patients and six of the normal subjects. Monoexponential curve analysis of the terminal beta-phase, including all subjects, was also used to compare the two groups. The means of plasma clearance and apparent volume of distribution in cirrhotic patients were respectively less and greater than in normal subjects, but these differences were not significant. The t1/2 for the beta-phase (t1/2 beta), which reflects this reciprocal trend, was increased in the patients (15.2 +/- 1.5 and 9.3 +/- 0.9 hr). This correlated in part with severity of disease, with r = 0.723 between t1/2 beta and the serum bilirubin levels. In conclusion, a single intravenous dose of DPHM provided safe and effective sedation in patients with cirrhosis. PMID:6705445

  10. ANESTHETIC CONSIDERATION S IN CHRONIC OBSTRUCTIVE PULMON ARY DISEASE

    Directory of Open Access Journals (Sweden)

    Awati

    2015-03-01

    Full Text Available Chronic obstructive pulmonary disease (COPD is a spectrum of diseases that includes emphysema, chronic bronchitis, and small airway disease. It i s characterized by progressive increased resistance to breathing. Patients with marked obstructive pulmonary disease are at increased risk for both intraoperative and Postoperative pulmonary complications. These patients require thorough preoperative prepa ration, meticulous intraoperative management & postoperative care. This article describes anesthetic considerations in a patient with COPD.

  11. Chronic inflammatory disease and its treatment during pregnancy

    OpenAIRE

    Bröms, Gabriella

    2015-01-01

    The decision to have children is often coupled with varying degrees of apprehension. Women with chronic disease often worry about how the disease itself or its treatment will affect pregnancy and the fetus. The aim of this thesis was to add to the current knowledge concerning pregnancy and birth outcomes in chronic inflammatory disease. First, we studied pregnancy and delivery complications in women with Crohn’s disease and ulcerative colitis, the main types of inflammatory bowel diseas...

  12. Predictors of objective cough frequency in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Sumner, Helen; Woodcock, Ashley; Kolsum, Umme;

    2013-01-01

    Cough is one of the principal symptoms of chronic obstructive pulmonary disease (COPD) but the potential drivers of cough are likely to be multifactorial and poorly understood.......Cough is one of the principal symptoms of chronic obstructive pulmonary disease (COPD) but the potential drivers of cough are likely to be multifactorial and poorly understood....

  13. Inflammatory biomarkers and comorbidities in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Thomsen, Mette; Dahl, Morten; Lange, Peter;

    2012-01-01

    Patients with chronic obstructive pulmonary disease (COPD) have evidence of systemic inflammation that may be implicated in the development of comorbidities.......Patients with chronic obstructive pulmonary disease (COPD) have evidence of systemic inflammation that may be implicated in the development of comorbidities....

  14. [Chronic diseases and employment: impact on social health inequalities].

    OpenAIRE

    Dray-Spira, Rosemary

    2013-01-01

    International audience BACKGROUND: Differential consequences of ill health according to individuals' position on the social scale may constitute an important pathway underlying social health inequalities. In the current context, chronic diseases have major consequences on employment. These consequences may play a substantial role in the process of social health inequalities. Understanding the employment consequences of chronic diseases and their socially differentiated nature constitutes a...

  15. Prevalence of chronic diseases in adolescents with intellectual disability

    NARCIS (Netherlands)

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

    2010-01-01

    Valid community-based data on the prevalence of chronic diseases in adolescents (12-18 years) with intellectual disability (ID-adolescents) are scarce. The aim of this study was to assess the prevalence rates and the nature of chronic diseases in a population of ID-adolescents and to compare them wi

  16. Nutrition for Early Chronic Kidney Disease in Adults

    Science.gov (United States)

    ... 345 KB)​​​​​ Alternate Language URL Nutrition for Early Chronic Kidney Disease in Adults Page Content On this page: Why ... Why is nutrition important for someone with early chronic kidney disease (CKD)? Controlling blood glucose, also called blood sugar, ...

  17. Theory in Chronic Disease Prevention and Health Promotion

    Science.gov (United States)

    Hall, Michael; Elise, Eifert

    2016-01-01

    Morbidity and mortality related to chronic diseases are a primary concern of health professionals, including Health Educators. According to the Centers for Disease Control and Prevention, over one half of the adult population in the United States suffer from one or more chronic conditions. Understanding the health risk behaviors that contribute to…

  18. Workplace problems and solutions for employees with chronic diseases

    NARCIS (Netherlands)

    I. Varekamp; F.J.H. van Dijk

    2010-01-01

    Background While many employees who have a chronic disease manage their jobs well, others are hampered in work performance, experience work-related problems and are at risk for job loss. Aims To identify the practical and psychosocial barriers recognized by employees with chronic disease who experie

  19. Clinical Scenarios in Chronic Kidney Disease: Parenchymal Chronic Renal Diseases - Part 2.

    Science.gov (United States)

    Petrucci, Ilaria; Samoni, Sara; Meola, Mario

    2016-01-01

    Secondary nephropathies can be associated with disreactive immunological disorders or with a non-inflammatory glomerular damage. In systemic lupus erythematosus (SLE), scleroderma and rheumatoid arthritis as in other connective tissue diseases, kidney volume and cortex echogenicity are the parameters that best correlate with clinical severity of the disease, even if the morphological aspect is generally non-specific. Doppler studies in SLE document the correlation between resistance indexes (RIs) values and renal function. Acquired immunodeficiency syndrome (HIV) causes different types of renal damage. At ultrasound (US), kidneys have almost a normal volume, while during superinfection they enlarge (coronal diameter >13 cm) and become globular, loosing their normal aspect. Cortex appears highly hyperechoic, uniform or patchy. Microcalcifications of renal cortex and medulla are a US sign that can suggest HIV. In amyloidosis, kidneys appear normal or increased in volume in the early stages of disease. Renal cortex is diffusely hyperechoic and pyramids can show normal size and morphology, but more often they appear poorly defined and hyperechoic. RIs are very high since the early stages of the disease. Nephromegaly with normal kidney shape is the first sign of lymphoma or multiple myeloma. In systemic vasculitis, renal cortex is diffusely hyperechoic, while pyramids appear hypoechoic and globular due to interstitial edema. When vasculitis determines advanced chronic kidney disease stages, kidneys show no specific signs. Microcirculation damage is highlighted by increased RIs values >0.70 in the chronic phase. PMID:27169551

  20. Chronic radiation disease. Consequences and outcomes

    International Nuclear Information System (INIS)

    Chronic Radiation Disease (CRD), induced by chronic external gamma-irradiation in cumulative dose 1.0-10.0 Gy ever a period of employment from 7 months to 7 years was described for the atomic enterprise workers during adjustment of that enterprise (1948-54). Key clinical syndromes of CRD were cytopenia in the peripheral blood (decrease of a number of thrombocytes, leukocytes, neutrophils to 50-60% from an initial level), changes in the nervous system (vegetative-vascular dysfunction of the hypotonic type, asthenic syndrome and at a cumulative dose more than 4.0 Gy - demyelinatied encephalomyelosis). The annual medical examination allowed assessing consequences of CRD for long-term period of monitoring (35-40 years) of 632 workers. By 10-15 years after termination of an exposure the characteristics of the peripheral blood are reverted to initial level (before employment at enterprise). However even by 40th year of observation in a part of cases the moderate hypoplasia of bone marrow (7.3%) and partial hypoplasia granulocytopoiesis (4.3%) is diagnosed. In lymphocytes of the peripheral blood the frequency of chromosome aberrations 4-5 times greater than a spontaneous level. Decrease of parameters of T-cell immunity remains. In cases of high exposure doses (cumulative dose more than 3.5-4.0 Gy) the early cerebral atherosclerosis (not older than 45) was diagnosed. By 40th year of monitoring the radiation cataracts were not detected. During the first decade of monitoring prevailing causes of death were an acute myeloid leukemia, during subsequent 30 years of monitoring - lung cancer was prevailing causes of death for worker who had contact with plutonium 239. (author)

  1. Paradoxical reactions under TNF-α blocking agents and other biological agents given for chronic immune-mediated diseases: an analytical and comprehensive overview

    Science.gov (United States)

    Toussirot, Éric; Aubin, François

    2016-01-01

    Paradoxical adverse events (PAEs) have been reported during biological treatment for chronic immune-mediated diseases. PAEs are defined as the occurrence during biological agent therapy of a pathological condition that usually responds to this class of drug. A wide range of PAEs have been reported including dermatological, intestinal and ophthalmic conditions, mainly with antitumour necrosis factor α (TNF-α) agents. True PAEs include psoriasis, Crohn's disease and hidradenitis suppurativa. Other PAEs may be qualified as borderline and include uveitis, scleritis, sarcoidosis and other granulomatous diseases (granuloma annulare, interstitial granulomatous dermatitis), vasculitis, vitiligo and alopecia areata. Proposed hypotheses to explain these PAEs include an imbalance in cytokine production, the differential immunological properties between the monoclonal antibodies and TNF-α soluble receptor, an unopposed type I interferon production and a shift towards a Th1/Th2 profile. Data from registries suggest that the risk for paradoxical psoriasis is low and non-significant. We discuss management of these PAEs, which depends on the type and severity of the adverse events, pre-existing treated conditions and the possibility of alternative therapeutic options for the underlying disease. Paradoxical adverse events are not restricted to anti-TNF-α agents and close surveillance of new available biological drugs (anti-interleukin-17/23, anti-integrin) is warranted in order to detect the occurrence of new or as yet undescribed events. PMID:27493788

  2. Association of periodontitis and chronic kidney disease in dogs

    Directory of Open Access Journals (Sweden)

    S. U. Nabi

    2014-06-01

    Full Text Available Aim: The purpose of our study is to study the etiopathogenesis of periodontitis in chronic kidney disease and to identify a correlation between periodontitis and chronic kidney disease, with the help of periodontal exaamination, ultrasonographic and hematobiochemical analysis. Materials and Methods: 46 dogs with renal failure were studied and classified as presenting a slight (56.52%, moderate (36.95% and severe (47.8% degree of periodontal disease. Results: Marked gingival recession involving whole maxillary dental arcade, Oral mucosa ulcers and tissue necrosis and mobility of mandibular incisors was observed in dogs with chronic kidney disease. Dogs with normal renal function were observed to have minimal gingival recession of the mandibular teeth only. Conclusion: In view of the causative association between periodontal infection, generalized inflammation and important systemic diseases like chronic kidney disease, we hypothesize that targeted prophylaxis and careful treatment of oral diseases can prevent the progression of renal failure

  3. Chronic kidney disease and the skeleton

    Institute of Scientific and Technical Information of China (English)

    Paul D Miller

    2014-01-01

    Fractures across the stages of chronic kidney disease (CKD) could be due to osteoporosis, some form of renal osteodystrophy defined by specific quantitative histomorphometry or chronic kidney disease–mineral and bone disorder (CKD–MBD). CKD–MBD is a systemic disease that links disorders of mineral and bone metabolism due to CKD to either one or all of the following:abnormalities of calcium, phosphorus, parathyroid hormone or vitamin D metabolism;abnormalities in bone turnover, mineralization, volume, linear growth or strength;or vascular or other soft-tissue calcification. Osteoporosis, as defined by the National Institutes of Health, may coexist with renal osteodystrophy or CKD–MBD. Differentiation among these disorders is required to manage correctly the correct disorder to reduce the risk of fractures. While the World Health Organization (WHO) bone mineral density (BMD) criteria for osteoporosis can be used in patients with stages 1–3 CKD, the disorders of bone turnover become so aberrant by stages 4 and 5 CKD that neither the WHO criteria nor the occurrence of a fragility fracture can be used for the diagnosis of osteoporosis. The diagnosis of osteoporosis in stages 4 and 5 CKD is one of the exclusion—excluding either renal osteodystrophy or CKD–MBD as the cause of low BMD or fragility fractures. Differentiations among the disorders of renal osteodystrophy, CKD–MBD or osteoporosis are dependent on the measurement of specific biochemical markers, including serum parathyroid hormone (PTH) and/or quantitative bone histomorphometry. Management of fractures in stages 1–3 CKD does not differ in persons with or without CKD with osteoporosis assuming that there is no evidence for CKD–MBD, clinically suspected by elevated PTH, hyperphosphatemia or fibroblast growth factor 23 due to CKD. Treatment of fractures in persons with osteoporosis and stages 4 and 5 CKD is not evidence-based, with the exception of post-hoc analysis suggesting efficacy and

  4. Radiologic findings of granulomatous mastitis

    International Nuclear Information System (INIS)

    The describe the radiologic findings of granulomatous mastitis of the breast. This study included 19 patients (age range: 22 to 56 years; mean 37 years) with 22 lesions that were pathologically confirmed as having granulomatous mastitis. All the patients underwent a breast ultrasonography and 13 patients underwent a mammography. The results of the mammography revealed focal asymmetry (n = 9), multiple ill-defined isodense nodules (n 2), ill-defined nodular density on craniocaudal view (n = 1), and unremarkable finding (n = 1). The sonographic findings included continuous or discontinuous multiple tubular and nodular low echoic lesions (n = 7), ill-defined heterogeneously low echoic lesion (n = 5), irregular-shaped, ill-defined low echoic mass (n = 4), fluid collection with internal floating materials suggesting the presence of an abscess (n = 4), ill-defined heterogeneously low echoic lesion and abscess (n = 1), and multiple ill-defined nodules (n = 1). In the case of granulomatous mastitis, the mammography results indicate a lack of specificity between normal findings and focal asymmetry. The sonographic findings indicate that ill-defined heterogeneously low echoic lesions or irregular shaped, ill-defined low echoic masses are difficult to differentiate from breast cancer. The sonographic findings of abscesses indicate a difficulty in differentiating them from cases of pyogenic mastitis. However, multiple tubular and nodular low echoic lesions, especially with a continuous appearance, should point to granulomatous mastitis, and is helpful in its differential diagnosis and treatment

  5. Radiologic findings of granulomatous mastitis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Tae Gyu; Kim, Ji Young; Jeong, Myeong Ja; Kim, Jae Hyung; Kim, Soung Hee; Kim, Soo Hyun; Jun, Woo Sun; Park, Kyeong Mee; Han, Se Hwan [Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of)

    2008-08-15

    The describe the radiologic findings of granulomatous mastitis of the breast. This study included 19 patients (age range: 22 to 56 years; mean 37 years) with 22 lesions that were pathologically confirmed as having granulomatous mastitis. All the patients underwent a breast ultrasonography and 13 patients underwent a mammography. The results of the mammography revealed focal asymmetry (n = 9), multiple ill-defined isodense nodules (n 2), ill-defined nodular density on craniocaudal view (n = 1), and unremarkable finding (n = 1). The sonographic findings included continuous or discontinuous multiple tubular and nodular low echoic lesions (n = 7), ill-defined heterogeneously low echoic lesion (n = 5), irregular-shaped, ill-defined low echoic mass (n = 4), fluid collection with internal floating materials suggesting the presence of an abscess (n = 4), ill-defined heterogeneously low echoic lesion and abscess (n = 1), and multiple ill-defined nodules (n = 1). In the case of granulomatous mastitis, the mammography results indicate a lack of specificity between normal findings and focal asymmetry. The sonographic findings indicate that ill-defined heterogeneously low echoic lesions or irregular shaped, ill-defined low echoic masses are difficult to differentiate from breast cancer. The sonographic findings of abscesses indicate a difficulty in differentiating them from cases of pyogenic mastitis. However, multiple tubular and nodular low echoic lesions, especially with a continuous appearance, should point to granulomatous mastitis, and is helpful in its differential diagnosis and treatment.

  6. Ovarian carcinoma in two patients with chronic liver disease

    Institute of Scientific and Technical Information of China (English)

    Mehlika Isildak; Gulay Sain Guven; Murat Kekilli; Yavuz Beyazit; Mustafa Erman

    2005-01-01

    Ascites is a common and debilitating complication of cirrhosis. However, patients with chronic liver disease are not spared from other causes of ascites and physicians should be careful not to miss an underlying malignancy.Ovarian cancer is an insidious disease, which is difficult to diagnose and it ranks first in mortality among all gynecological cancers. Here, we present two cases of patients with chronic liver disease that developed ascites not simply because of cirrhosis but as a manifestation of ovarian cancer. We would like to emphasize that the causes of ascites, other than the liver itself, should not be overlooked in patients with chronic liver disease.

  7. Analysis of electrocardiogram in chronic obstructive pulmonary disease patients

    Directory of Open Access Journals (Sweden)

    Lazović Biljana

    2013-01-01

    Full Text Available Introduction. Chronic obstructive pulmonary disease is the fourth leading cause of mortality worldwide. It is defined as a persistent airflow limitation usually progressive and not fully reversible to treatment. The diagnosis of chronic obstructive pulmonary disease and severity of disease is confirmed by spirometry. Chronic obstructive pulmonary disease produces electrical changes in the heart which shows characteristic electrocardiogram pattern. The aim of this study was to observe and evaluate diagnostic values of electrocardiogram changes in chronic obstructive pulmonary disease patients with no other comorbidity. Material and Methods. We analyzed 110 electrocardiogram findings in clinically stable chronic obstructive pulmonary disease patients and evaluated the forced expiratory volume in the first second, ratio of forces expiratory volume in the first second to the fixed vital capacity, chest radiographs and electrocardiogram changes such as p wave height, QRS axis and voltage, right bundle branch block, left bundle branch block, right ventricular hypertrophy, T wave inversion in leads V1-V3, S1S2S3 syndrome, transition zone in praecordial lead and QT interval. Results. We found electrocardiogram changes in 64% patients, while 36% had normal electrocardiogram. The most frequent electrocardiogram changes observed were transition zone (76.36% low QRS (50% and p pulmonale (14.54%. Left axis deviation was observed in 27.27% patients. Conclusion. Diagnostic values of electrocardiogram in patients with chronic obstructive pulmonary disease suggest that chronic obstructive pulmonary disease patients should be screened electrocardiographically in addition to other clinical investigations.

  8. Circulating adipocytokines and chronic kidney disease.

    Directory of Open Access Journals (Sweden)

    Katherine T Mills

    Full Text Available BACKGROUND: Adipokines have been associated with atherosclerotic heart disease, which shares many common risk factors with chronic kidney disease (CKD, but their relationship with CKD has not been well characterized. METHODS: We investigated the association of plasma leptin, resistin and adiponectin with CKD in 201 patients with CKD and 201 controls without. CKD was defined as estimated glomerular filtration rate (eGFR <60 mL/min/1.73 m(2 or presence of albuminuria. Quantile regression and logistic regression models were used to examine the association between adipokines and CKD adjusting for multiple confounding factors. RESULTS: Compared to controls, adjusted median leptin (38.2 vs. 17.2 ng/mL, p<0.0001 and adjusted mean resistin (16.2 vs 9.0 ng/mL, p<0.0001 were significantly higher in CKD cases. The multiple-adjusted odds ratio (95% confidence interval of CKD comparing the highest tertile to the lower two tertiles was 2.3 (1.1, 4.9 for leptin and 12.7 (6.5, 24.6 for resistin. Median adiponectin was not significantly different in cases and controls, but the odds ratio comparing the highest tertile to the lower two tertiles was significant (1.9; 95% CI, 1.1, 3.6. In addition, higher leptin, resistin, and adiponectin were independently associated with lower eGFR and higher urinary albumin levels. CONCLUSIONS: These findings suggest that adipocytokines are independently and significantly associated with the risk and severity of CKD. Longitudinal studies are warranted to evaluate the prospective relationship of adipocytokines to the development and progression of CKD.

  9. Proof That Chronic Lyme Disease Exists

    Directory of Open Access Journals (Sweden)

    Daniel J. Cameron

    2010-01-01

    Full Text Available The evidence continues to mount that Chronic Lyme Disease (CLD exists and must be addressed by the medical community if solutions are to be found. Four National Institutes of Health (NIH trials validated the existence and severity of CLD. Despite the evidence, there are physicians who continue to deny the existence and severity of CLD, which can hinder efforts to find a solution. Recognizing CLD could facilitate efforts to avoid diagnostic delays of two years and durations of illness of 4.7 to 9 years described in the NIH trials. The risk to society of emerging antibiotic-resistant organisms should be weighed against the societal risks associated with failing to treat an emerging population saddled with CLD. The mixed long-term outcome in children could also be examined. Once we accept the evidence that CLD exists, the medical community should be able to find solutions. Medical professionals should be encouraged to examine whether: (1 innovative treatments for early LD might prevent CLD, (2 early diagnosis of CLD might result in better treatment outcomes, and (3 more effective treatment regimens can be developed for CLD patients who have had prolonged illness and an associated poor quality of life.

  10. Clinical imaging of vascular disease in chronic kidney disease.

    Science.gov (United States)

    Sag, Alan A; Covic, Adrian; London, Gerard; Vervloet, Marc; Goldsmith, David; Gorriz, Jose Luis; Kanbay, Mehmet

    2016-06-01

    Arterial wall calcification, once considered an incidental finding, is now known to be a consistent and strong predictor of cardiovascular events in patients with chronic renal insufficiency. It is also commonly encountered in radiologic examinations as an incidental finding. Forthcoming bench, translational, and clinical data seek to establish this and pre-calcification changes as surrogate imaging biomarkers for noninvasive prognostication and treatment follow-up. Emerging paradigms seek to establish vascular calcification as a surrogate marker of disease. Imaging of pre-calcification and decalcification events may prove more important than imaging of the calcification itself. Data-driven approaches to screening will be necessary to limit radiation exposure and prevent over-utilization of expensive imaging techniques. PMID:26898824

  11. Complications of Diabetes: Chronic Kidney Disease (CKD and Diabetic Nephropathy

    Directory of Open Access Journals (Sweden)

    iyabet Dunyagoz Hospitals G

    2014-09-01

    Full Text Available Today, almost half of the patients who are on chronic kidney replacement therapy have diabetes. The enormous worldwide rise in these cases pose potential economic burden for every country and therefore monitoring kidney function should be a practice provided in outpatient settings. Poorly controlled diabetes will not only result in chronic renal failure, but also patients with chronic renal disease will have some metabolic abnormalities that will increase both morbidity and mortality of the patients. While hypertension may associate with most of the diabetic cases, those people with diabetes who have no rise in blood pressure will eventually develop hypertension at later stage of the chronic kidney disease.

  12. Association between Celiac Disease and Chronic Hepatitis C Virus Infection

    OpenAIRE

    Garg, Ashish; Reddy, Chandrasekhar; Duseja, Ajay; Chawla, Yogesh; Radha K. Dhiman

    2011-01-01

    Celiac disease affects the proximal small intestine and is caused by a local immune response to dietary gluten. Celiac disease usually presents with chronic diarrhea; however, presentations with elevated hepatic transaminase levels in blood or with iron-deficiency anemia have been described. Celiac disease has been reported to be associated with autoimmune liver diseases. Hepatitis C virus (HCV) can also initiate autoimmune disease process. Therefore, HCV infection and celiac disease may occu...

  13. Major affective disorders in chronic obstructive pulmonary disease compared with other chronic respiratory diseases

    Directory of Open Access Journals (Sweden)

    Pothirat C

    2015-08-01

    Full Text Available Chaicharn Pothirat, Warawut Chaiwong, Nittaya Phetsuk, Sangnual Pisalthanapuna, Nonglak Chetsadaphan, Juthamas InchaiDivision of Pulmonary, Critical Care and Allergy, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, ThailanBackground: Chronic obstructive pulmonary disease (COPD and other chronic respiratory diseases (CRDs have significant impacts on quality of life including psychomotor domain.Purpose: To evaluate three major affective disorders in subjects with COPD compared with other CRDs and nonill population.Materials and methods: The Thai version of Mini International Neuropsychiatric Interview (MINI was used as a diagnostic instrument for three major affective disorders (generalized anxiety disorder, major depressive disorder, and panic disorder by face-to-face interview in assessing patients with CRDs [COPD, asthma, rhinasthma, all asthma (asthma and rhinasthma, and chronic rhinitis], and nonill subjects. Logistic regression analyses were used to determine the relation between major affective disorders and CRDs adjusting for age, sex, and disease severity.Results: Major affective disorders were more prevalent in CRDs than nonill groups (adjusted OR =2.6 [95% CI, 1.8-3.9], P<0.001. COPD patients had significantly more generalized anxiety and panic disorder (adjusted OR =4.0 [95% CI, 1.4-11.9], P=0.011, and 4.4 [95% CI, 1.1-18.1], P=0.038, respectively but not major depressive disorder (adjusted OR =2.7 [95% CI, 0.8-9.0, P=0.105] than nonill group. Comparing with all asthma, COPD patients had lower occurrence of major depressive and panic disorders (adjusted OR =0.1 [95% CI, 0.0-0.4], P=0.002, and 0.1 [95% CI, 0.0-0.9], P=0.043, respectively. There was no difference in major mood disorders in COPD, rhinasthma, and chronic rhinitis patients. Major affective disorders were not increased by disease severity in COPD.Conclusion: Major affective disorders were significantly higher in CRDs than nonill

  14. [Autoimmunity in pathogenesis of chronic obstructive pulmonary disease].

    Science.gov (United States)

    Urboniene, Daiva; Sakalauskas, Raimundas; Sitkauskiene, Brigita

    2005-01-01

    For years, smoking induced inflammatory reaction, comprised mainly of neutrophils and macrophages, has been accepted to be the major component in pathogenesis of chronic obstructive pulmonary disease. New developments in molecular and cell biology have provided scientists with new knowledge and understanding of inflammatory processes in lung. Recent reports have underlined the role of autoimmunity and T lymphocytes as a potential important factor, which takes place in the pathogenesis of chronic obstructive pulmonary disease. This article reviews potential mechanism of T cell mediated immune response in chronic obstructive pulmonary disease. PMID:15827384

  15. Hepatitis A and B Superimposed on Chronic Liver Disease: Vaccine-Preventable Diseases

    OpenAIRE

    Keeffe, Emmet B.

    2006-01-01

    A number of studies have demonstrated that the acquisition of hepatitis A or hepatitis B in patients with chronic liver disease is associated with high rates of morbidity and mortality. Superimposition of acute hepatitis A in patients with chronic hepatitis C has been associated with a particularly high mortality rate, and chronic hepatitis B virus coinfection with hepatitis C virus is associated with an accelerated progression of chronic liver disease to cirrhosis, decompensated liver diseas...

  16. Smoking Cessation in Chronic Obstructive Pulmonary Disease.

    Science.gov (United States)

    Tashkin, Donald P

    2015-08-01

    Smoking cessation is the most effective strategy for slowing down the progression of chronic obstructive pulmonary disease (COPD) and reducing mortality in the approximately 50% of patients with diagnosed COPD who continue to smoke. While behavioral interventions (including simple advice) have modest efficacy in improving smoking quit rates, the combination of counseling and pharmacotherapy is more effective than either alone. When combined with even brief counseling, nicotine replacement therapy (NRT), bupropion SR, and varenicline have all been shown to be effective in promoting smoking cessation and sustained abstinence in smokers with COPD to a degree comparable to that observed in the general smoking population. However, the recidivism rate is high after initial quitting so that at the end of 1 year, approximately 80% or more of patients are still smoking. Thus, new approaches to smoking cessation are needed. One approach is to combine different pharmacotherapies, for example, nicotine patch plus rapidly acting NRT (e.g., gum or nasal spray) and/or bupropion or even varenicline plus either NRT or bupropion, in a stepwise approach over a varying duration depending on the severity of nicotine dependence and nicotine withdrawal symptoms during the quit attempt, as proposed in the American College of Chest Physicians Tobacco Dependence Took Kit. Electronic (e)-cigarettes, which deliver vaporized nicotine without most of the noxious components in the smoke from burning tobacco cigarettes, also has potential efficacy as a smoking cessation aid, but their efficacy and safety as either substitutes for regular cigarettes or smoking cessation aids require additional study. This task is complicated because e-cigarettes are currently unregulated and hundreds of different brands are currently available. PMID:26238637

  17. Obesity and chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Čekerevac Ivan

    2011-01-01

    Full Text Available Introduction. Nutritional abnormalities have one of the most important systematic effects on chronic obstructive pulmonary disease (COPD. A relationship between COPD and obesity has been observed and recognized. In COPD patients, beside changes in the total body weight, changes in body composition are also possible with the loss of fat-free mass (FFM. Objective. This study was undertaken to evaluate the impact of obesity and the change of body composition on the pulmonary function, dyspnoea level and the quality of life in COPD patients. Methods. Seventy-nine patients in the stable state of COPD were evaluated. Pulmonary function and arterial blood gas analysis were assessed. Nutritional status was analyzed according to Body Mass Index (BMI. Body composition was evaluated by using anthropometric measurement by fat free mass index (FFMI. Quality of life was assessed using the St. George Respiratory Questionnaire (SGRQ. The Visual Analogue Scale (VAS was used to evaluate dyspnoea. Results. The highest prevalence of obesity (50.0% was found in patients with mild COPD, while the lowest prevalence was detected in very severe COPD patients (10.0%. The loss of FFM occurred in 22.2% patients with normal body weight and in 9.0% of overweight COPD patients. The quality of life was lower in obese patients compared to other COPD patients. A higher dyspnoea level was also present in obese patients. The lowest airflow obstruction was in obese patients (p=0.023. We found a significant positive correlation between forced expiratory volume in the first second (FEV1% and BMI (r=0.326, p=0.003, FEV1% and FFMI (r=0.321, p=0.004. Conclusion. The highest prevalence of obesity was in patients with mild COPD. Obese patients with COPD had the lowest level of airflow obstruction, higher dyspnoea level and lower quality of life in comparison to other COPD patients.

  18. Chronic pain: the burden of disease and treatment innovations

    OpenAIRE

    S. Monti; Caporali, R

    2015-01-01

    Musculoskeletal conditions are the most frequent cause of chronic pain and affect around 1 in 5 adults in Europe. When chronic pain occurs, it becomes disease itself, with substantial clinical, social and economic impact. Effi cacy and tolerability problems are encountered with all therapeutic strategies available to treat musculoskeletal pain. This often limits effective analgesia and patients’ long term compliance, with the result that chronic pain is persistently underestimated and undertr...

  19. Media coverage of chronic diseases in the Netherlands

    NARCIS (Netherlands)

    Wardt, van der Elly M.; Taal, Erik; Rasker, Johannes J.; Wiegman, Oene

    1999-01-01

    Objective: Little is known about the quantity or quality of information on rheumatic diseases provided by the mass media. The aim of this study was to gain insight into the media coverage of rheumatic diseases compared with other chronic diseases in the Netherlands. - Materials and Methods: Newspap

  20. 75 FR 80734 - Chronic Beryllium Disease Prevention Program

    Science.gov (United States)

    2010-12-23

    ... Beryllium Disease Prevention Program (CBDPP) (63 FR 66940). After considering the comments received, DOE... CFR Part 850 RIN 1992-AA39 Chronic Beryllium Disease Prevention Program AGENCY: Office of Health... beryllium disease prevention program. The Department solicits comment and information on the...

  1. Management of Chronic Infectious Diseases in School Children.

    Science.gov (United States)

    Illinois State Board of Education, Springfield.

    This document contains guidelines for developing policies and procedures related to chronic infectious diseases, as recommended by the Illinois Task Force on School Management of Infectious Disease. It is designed to help school personnel understand how infectious diseases can be transmitted, and to assist school districts in the development and…

  2. Renal imaging in children with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Wiwit Rahmawati

    2013-04-01

    Full Text Available Background Chronic kidney failure is a cause of death in children. Diagnosing chronic kidney disease is often made by clinical manifestations, laboratory findings and ultrasonography or other imaging tests. Early detection of chronic kidney disease is needed for education and management of the disease. Objective To describe renal imaging findings and mortality in children with chronic kidney disease. Methods This was a cross-sectional study on children with kidney diseases who were inpatients at Dr. Kariadi Hospital from January 2008 to June 2011. Data were taken from medical records. Chronic kidney disease was confirmed by clinical manifestations, laboratory findings, and radiologic imaging. Renal ultrasound findings were determined by the radiologist responsible at that time. Results were presented as frequency distributions. Results Of 37 chronic kidney disease cases, 27 were males and 10 were females. Subjects’ most common complaints were dyspnea (7 out of 37 and edema (30 out of 37. Renal ultrasound imaging of subjects with chronic kidney disease yielded the following findings: reduced cortico-medullary differentiation (30 out of 37, bilateral echogenic kidneys (21 out of 37, reduced renal cortex thickness (4 out of 37 and small-sized kidneys (4 out of 37. Eight of the 37 children died. These 8 subjects had the following radiologic imaging findings: both kidneys appeared small in size (4 out of 8, reduced ‘renal cortex’ thickness (4 out of 8, echogenic kidneys (6 out of 8, and reduced cortico-medullary differentiation (8 out of 8. Conclusion Renal ultrasound imaging of pediatric subjects with chronic kidney disease revealed findings of reduced cortico-medullary differentiation, bilateral echogenic kidneys, reduced renal cortex thickness, and small kidneys bilaterally. [Paediatr Indones. 2013;53:193-9.].

  3. Lumbar hernia associated with chronic obstructive pulmonary disease (COPD)

    OpenAIRE

    Xu, Tao; Zhang, Shuwei; Wang, Huaying; YU, WANJUN

    2013-01-01

    Lumbar hernias are very rare posterolateral abdominal wall hernias, and they are spontaneous in most adult patients. Here we report two cases of spontaneous lumbar hernias associated with chronic obstructive pulmonary disease (COPD). Some factors such as chronic cough, poor nutritional status and old age in patients with COPD would contribute to lumbar hernia.

  4. Oral disease profiles in chronic graft versus host disease.

    Science.gov (United States)

    Bassim, C W; Fassil, H; Mays, J W; Edwards, D; Baird, K; Steinberg, S M; Cowen, E W; Naik, H; Datiles, M; Stratton, P; Gress, R E; Pavletic, S Z

    2015-04-01

    At least half of patients with chronic graft-versus-host-disease (cGVHD), the leading cause of morbidity and non-relapse mortality after allogeneic stem cell transplantation, have oral manifestations: mucosal lesions, salivary dysfunction, and limited mouth-opening. cGVHD may manifest in a single organ or affect multiple organ systems, including the mouth, eyes, and the skin. The interrelationship of the 3 oral manifestations of cGVHD with each other and with the specific manifestations of extraoral cGVHD has not been studied. In this analysis, we explored, in a large group of patients with cGVHD, the potential associations between: (1) oral mucosal disease and erythematous skin disease, (2) salivary gland dysfunction and lacrimal gland dysfunction, and (3) limited mouth-opening and sclerotic skin cGVHD. Study participants, enrolled in a cGVHD Natural History Protocol (NCT00331968, n = 212), underwent an oral examination evaluating: (1) mucosal cGVHD [NIH Oral Mucosal Score (OMS)], (2) salivary dysfunction (saliva flow and xerostomia), and (3) maximum mouth-opening measurement. Parameters for dysfunction (OMS > 2, saliva flow ≤ 1 mL/5 min, mouth-opening ≤ 35 mm) were analyzed for association with skin cGVHD involvement (erythema and sclerosis, skin symptoms), lacrimal dysfunction (Schirmer's tear test, xerophthalmia), Lee cGVHD Symptom Scores, and NIH organ scores. Oral mucosal disease (31% prevalence) was associated with skin erythema (P prevalence) was associated with lacrimal dysfunction (P = 0.010) and xerostomia with xerophthalmia (r = 0.32, P = 0.001); and limited mouth-opening (17% prevalence) was associated with skin sclerosis (P = 0.008) and skin symptoms (P = 0.001). There was no association found among these 3 oral cGVHD manifestations. This analysis supports the understanding of oral cGVHD as 3 distinct diseases: mucosal lesions, salivary gland dysfunction, and mouth sclerosis. Clear classification of oral cGVHD as 3 separate manifestations will

  5. One risk assessment tool for cardiovascular disease, type 2 diabetes, and chronic kidney disease

    NARCIS (Netherlands)

    M. Alssema (Marjan); R.S. Newson (Rachel); S.J.L. Bakker (Stephan); C.D. Stehouwer (Coen); M.W. Heymans (Martijn); M.G.A.A.M. Nijpels (Giel); H.L. Hillege (Hans); A. Hofman (Albert); J.C.M. Witteman (Jacqueline); R.T. Gansevoort; J.M. Dekker (Jacqueline)

    2012-01-01

    textabstractOBJECTIVE - Individuals at high risk for chronic cardiometabolic disease (cardiovascular disease [CVD], type 2 diabetes, and chronic kidney disease [CKD]) share many risk factors and would benefit from early intervention. We developed a nonlaboratory-based risk-assessment tool for identi

  6. One Risk Assessment Tool for Cardiovascular Disease, Type 2 Diabetes, and Chronic Kidney Disease

    NARCIS (Netherlands)

    Alssema, Marjan; Newson, Rachel S.; Bakker, Stephan J. L.; Stehouwer, Coen D. A.; Heymans, Martijn W.; Nijpels, Giel; Hillege, Hans L.; Hofman, Albert; Witteman, Jacqueline C. M.; Gansevoort, Ron T.; Dekker, Jacqueline M.

    2012-01-01

    OBJECTIVE-Individuals at high risk for chronic cardiometabolic disease (cardiovascular disease [CVD], type 2 diabetes, and chronic kidney disease [CKDD]) share many risk factors and would benefit from early intervention. We developed a nonlaboratory-based risk-assessment tool for identification of p

  7. Food-starch granulomatous peritonitis.

    OpenAIRE

    Davies, J D; Ansell, I D

    1983-01-01

    Two cases of peritoneal granulomatous reactions to food starch are described. They followed bowel perforation and clinically mimicked tuberculous and glove-powder starch peritonitis. Their histological differences from corn-starch peritonitis warrant attention in the absence of previous documentation of starch as a component of peritoneal food granulomas. Food-starch granules tend to be larger than those of glove powder, are often oval, and may be extremely resistant to salivary diastase dige...

  8. Airway vascular reactivity and vascularisation in human chronic airway disease

    NARCIS (Netherlands)

    Bailey, Simon R; Boustany, Sarah; Burgess, Janette K; Hirst, Stuart J; Sharma, Hari S; Simcock, David E; Suravaram, Padmini R; Weckmann, Markus

    2009-01-01

    Altered bronchial vascular reactivity and remodelling including angiogenesis are documented features of asthma and other chronic inflammatory airway diseases. Expansion of the bronchial vasculature under these conditions involves both functional (vasodilation, hyperperfusion, increased microvascular

  9. Pneumonectomy for chronic inflammatory lung disease: indications and complications

    Institute of Scientific and Technical Information of China (English)

    NIE Gang; LIU Guo-jun; Jean Deslauriers; FAN Zhi-min

    2010-01-01

    @@ Chronic inflammatory lung disease is a common health problem and often treated with potent antibiotics, anti-tuberculosis drugs, and antifungal agents. However, in case of medical therapy failure, surgical treatment has been often considered as an effective procedure.

  10. Tuberculosis and chronic respiratory disease: a systematic review

    Directory of Open Access Journals (Sweden)

    Anthony L. Byrne

    2015-03-01

    Conclusion: In tuberculosis endemic areas, tuberculosis is strongly associated with the presence of chronic respiratory disease in adults. Efforts to improve long-term lung health should be part of tuberculosis care.

  11. Quantifying psychiatric comorbidity - Lessions from chronic disease epidemiology

    NARCIS (Netherlands)

    Batstra, L; Bos, EH; Neeleman, J

    2002-01-01

    Background Comorbidity research in psychiatric epidemiology mostly uses measures of association like odds or risk ratios to express how strongly disorders are linked. In contrast, chronic disease epidemiologists increasingly use measures of clustering, like multimorbidity (cluster) coefficients, to

  12. Prevalence of Diabetes Mellitus in Patients with Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Olivera Stojceva-Taneva

    2016-01-01

    CONCLUSION: Our study showed that chronic kidney disease is frequent in the Republic of Macedonia and is associated with older age and diabetes. Diabetes had a significantly stronger association with CKD at younger age.

  13. Physical Activity Recommendations in Patients with Chronic Obstructive Pulmonary Disease

    NARCIS (Netherlands)

    Hartman, Jorine E.; Boezen, H. Marike; Zuidema, Menno J.; de Greef, Mathieu H. G.; ten Hacken, Nick H. T.; Boezen, Hendrika

    2014-01-01

    Background: Physical activity recommendations are hardly studied in patients with chronic obstructive pulmonary disease (COPD), and specifically recommendations that are individualized to a patient's aerobic fitness level are not studied. Objectives: To compare individualized (relative) and nonindiv

  14. [Chronic wasting disease guidelines for the National Elk Refuge

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This memorandum provides the Regional Refuge Biologist some guidelines on transport of elk to or from chronic wasting disease (CWD) contaminated sites, and...

  15. Six-minute-walk test in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Polkey, Michael I; Spruit, Martijn A; Edwards, Lisa D;

    2013-01-01

    Outcomes other than spirometry are required to assess nonbronchodilator therapies for chronic obstructive pulmonary disease. Estimates of the minimal clinically important difference for the 6-minute-walk distance (6MWD) have been derived from narrow cohorts using nonblinded intervention....

  16. Nutrition in Children with Chronic Kidney Disease

    Science.gov (United States)

    ... cereals Bran cereals Egg whites Egg yolks Sorbet Ice cream Source: Phosphorous: Tips for People with Chronic Kidney ... for Scientists Current Funding Opportunities Funded Grants & Grant History Funding Process Research Programs & Contacts Research Training & Career ...

  17. Metabolic Syndrome, Chronic Kidney, and Cardiovascular Diseases: Role of Adipokines

    OpenAIRE

    Manfredi Tesauro; Maria Paola Canale; Giuseppe Rodia; Nicola Di Daniele; Davide Lauro; Angelo Scuteri; Carmine Cardillo

    2011-01-01

    Obesity is a chronic disease, whose incidence is alarmingly growing. It is associated with metabolic abnormalities and cardiovascular complications. These complications are clustered in the metabolic syndrome (MetS) leading to high cardiovascular morbidity and mortality. Obesity predisposes to diabetic nephropathy, hypertensive nephrosclerosis, and focal and segmental glomerular sclerosis and represents an independent risk factor for the development and progression of chronic kidney disease ...

  18. Obstructive sleep apnea in chronic obstructive pulmonary disease patients.

    LENUS (Irish Health Repository)

    Lee, Ruth

    2011-03-01

    Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) represent two of the most prevalent chronic respiratory disorders and cardiovascular diseases are major co-morbidities in both. Co-existence of both disorders (overlap syndrome) occurs in 1% of adults and overlap patients have worse nocturnal hypoxemia and hypercapnia than COPD and OSA patients alone. The present review discusses recent data concerning the pathophysiological and clinical significance of the overlap syndrome.

  19. Quality of life in patients with chronic kidney disease

    OpenAIRE

    Maria Carolina Cruz; Carolina Andrade; Milton Urrutia; Sergio Draibe; Luiz Antônio Nogueira-Martins; Ricardo de Castro Cintra Sesso

    2011-01-01

    AIM: To compare the dimensions of quality of life in the stages of chronic kidney disease and the influence of sociodemographic, clinical and laboratory data. INTRODUCTION: The information available on the quality of life of patients on conservative treatment and the relationship between the quality of life and glomerular filtration rate is limited. METHODS: 155 patients in stages 1-5 of chronic kidney disease and 36 in hemodialysis were studied. Quality of life was rated by the Medical Outco...

  20. Pesticides and human chronic diseases: Evidences, mechanisms, and perspectives

    Energy Technology Data Exchange (ETDEWEB)

    Mostafalou, Sara; Abdollahi, Mohammad, E-mail: Mohammad.Abdollahi@UToronto.Ca

    2013-04-15

    Along with the wide use of pesticides in the world, the concerns over their health impacts are rapidly growing. There is a huge body of evidence on the relation between exposure to pesticides and elevated rate of chronic diseases such as different types of cancers, diabetes, neurodegenerative disorders like Parkinson, Alzheimer, and amyotrophic lateral sclerosis (ALS), birth defects, and reproductive disorders. There is also circumstantial evidence on the association of exposure to pesticides with some other chronic diseases like respiratory problems, particularly asthma and chronic obstructive pulmonary disease (COPD), cardiovascular disease such as atherosclerosis and coronary artery disease, chronic nephropathies, autoimmune diseases like systemic lupus erythematous and rheumatoid arthritis, chronic fatigue syndrome, and aging. The common feature of chronic disorders is a disturbance in cellular homeostasis, which can be induced via pesticides' primary action like perturbation of ion channels, enzymes, receptors, etc., or can as well be mediated via pathways other than the main mechanism. In this review, we present the highlighted evidence on the association of pesticide's exposure with the incidence of chronic diseases and introduce genetic damages, epigenetic modifications, endocrine disruption, mitochondrial dysfunction, oxidative stress, endoplasmic reticulum stress and unfolded protein response (UPR), impairment of ubiquitin proteasome system, and defective autophagy as the effective mechanisms of action. - Highlights: ► There is a link between exposure to pesticides and incidence of chronic diseases. ► Genotoxicity and proteotoxicity are two main involved mechanisms. ► Epigenetic knowledge may help diagnose the relationships. ► Efficient policies on safe use of pesticides should be set up.

  1. ANAESTHESIA FOR CHRONIC RENAL DISEASE AND RENAL TRANSPLANT: AN UPDATE

    Directory of Open Access Journals (Sweden)

    Vinod Kumar

    2015-03-01

    Full Text Available Patients with chronic k idney disease have unique pathophysiology relating to both CKD and its underlying cause and therefore present a challenge to anaesthesiologists & surgeons . The aim of this article is to present the features of chronic kidney disease (CKD that influence th e conduct of anaesthesia and to introduce some of the anaesthetic techniques used for this challenging group of patients.

  2. Pesticides and human chronic diseases: Evidences, mechanisms, and perspectives

    International Nuclear Information System (INIS)

    Along with the wide use of pesticides in the world, the concerns over their health impacts are rapidly growing. There is a huge body of evidence on the relation between exposure to pesticides and elevated rate of chronic diseases such as different types of cancers, diabetes, neurodegenerative disorders like Parkinson, Alzheimer, and amyotrophic lateral sclerosis (ALS), birth defects, and reproductive disorders. There is also circumstantial evidence on the association of exposure to pesticides with some other chronic diseases like respiratory problems, particularly asthma and chronic obstructive pulmonary disease (COPD), cardiovascular disease such as atherosclerosis and coronary artery disease, chronic nephropathies, autoimmune diseases like systemic lupus erythematous and rheumatoid arthritis, chronic fatigue syndrome, and aging. The common feature of chronic disorders is a disturbance in cellular homeostasis, which can be induced via pesticides' primary action like perturbation of ion channels, enzymes, receptors, etc., or can as well be mediated via pathways other than the main mechanism. In this review, we present the highlighted evidence on the association of pesticide's exposure with the incidence of chronic diseases and introduce genetic damages, epigenetic modifications, endocrine disruption, mitochondrial dysfunction, oxidative stress, endoplasmic reticulum stress and unfolded protein response (UPR), impairment of ubiquitin proteasome system, and defective autophagy as the effective mechanisms of action. - Highlights: ► There is a link between exposure to pesticides and incidence of chronic diseases. ► Genotoxicity and proteotoxicity are two main involved mechanisms. ► Epigenetic knowledge may help diagnose the relationships. ► Efficient policies on safe use of pesticides should be set up

  3. Neuroinflammation and neurological alterations in chronic liver diseases

    OpenAIRE

    Carmina Montoliu; Marta Llansola; Vicente Felipo

    2015-01-01

    Several million people with chronic liver diseases (cirrhosis, hepatitis) show neurological alterations, named hepatic encephalopathy (HE) with cognitive and motor alterations that impair quality of life and reduces life span. Inflammation acts synergistically with hyperammonemia to induce cognitive and motor alterations in patients with chronic liver disease and minimal hepatic encephalopathy (MHE). Previous studies in animal models have suggested that neuroinflammation is a major player in ...

  4. C reactive protein and chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Dahl, Morten; Vestbo, Jørgen; Zacho, Jeppe; Lange, Peter; Tybjærg-Hansen, Anne; Nordestgaard, Børge G

    2011-01-01

    It is unclear whether elevated plasma C reactive protein (CRP) is causally related to chronic obstructive pulmonary disease (COPD). The authors tested the hypothesis that genetically elevated plasma CRP causes COPD using a Mendelian randomisation design.......It is unclear whether elevated plasma C reactive protein (CRP) is causally related to chronic obstructive pulmonary disease (COPD). The authors tested the hypothesis that genetically elevated plasma CRP causes COPD using a Mendelian randomisation design....

  5. Chronic mild cerebrovascular dysfunction as a cause for Alzheimer's disease?

    OpenAIRE

    Humpel, Christian

    2011-01-01

    Alzheimer's disease (AD) is a progressive chronic disorder and is characterized by β-amyloid plaques and angiopathy, tau pathology, neuronal cell death, and inflammatory responses. The reasons for this disease are not known. This review proposes the hypothesis that a chronic mild longlasting cerebrovascular dysfunction could initiate a cascade of events leading to AD. It is suggested that (vascular) risk factors (e.g. hypercholesterolemia, type 2 diabetes, hyperhomocysteinemia) causes either ...

  6. Impaired vascular reactivity in patients with chronic kidney disease

    DEFF Research Database (Denmark)

    Tetzner, Fabian; Scholze, Alexandra; Wittstock, Antje;

    2008-01-01

    Patients with chronic kidney disease (CKD) show increased cardiovascular morbidity. We hypothesized that vascular properties which can be routinely evaluated noninvasively are related to different stages of CKD and their clinical and biochemical characteristics.......Patients with chronic kidney disease (CKD) show increased cardiovascular morbidity. We hypothesized that vascular properties which can be routinely evaluated noninvasively are related to different stages of CKD and their clinical and biochemical characteristics....

  7. Stroke and bleeding in atrial fibrillation with chronic kidney disease

    DEFF Research Database (Denmark)

    Olesen, Jonas Bjerring; Lip, Gregory Y.H.; Kamper, Anne-Lise;

    2012-01-01

    Both atrial fibrillation and chronic kidney disease increase the risk of stroke and systemic thromboembolism. However, these risks, and the effects of antithrombotic treatment, have not been thoroughly investigated in patients with both conditions.......Both atrial fibrillation and chronic kidney disease increase the risk of stroke and systemic thromboembolism. However, these risks, and the effects of antithrombotic treatment, have not been thoroughly investigated in patients with both conditions....

  8. Oral protein calorie supplementation for children with chronic disease

    OpenAIRE

    Francis, Damian K.; Smith, Joanne; Saljuqi, Tawab; Watling, Ruth M

    2015-01-01

    Background Poor growth and nutritional status are common in children with chronic diseases. Oral protein calorie supplements are used to improve nutritional status in these children. These expensive products may be associated with some adverse effects, e.g. the development of inappropriate eating behaviour patterns. This is a new update of a Cochrane review last updated in 2009. Objectives To examine evidence that in children with chronic disease, oral protein calorie supplements alter daily ...

  9. A STUDY OF LIPID PROFILE IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE

    OpenAIRE

    Modini Venkata; Srikanti; Surya Kiran; Hanumanth Rao

    2015-01-01

    BACKGROUND : Chronic obstructive pulmonary disease (COPD) the third leading cause of death in the world , represents an important public health challenge that is both preventable and treatable. According to Global Initiative f or Chronic Obstructiv e Lung Disease (GOLD) , Spirometric tests , Forced Expiratory Volume in first second (FEV1) less than 80% of the expected value and forced expiratory volume in first second to the forced vital capa...

  10. Calorie restriction and prevention of age-associated chronic disease

    OpenAIRE

    Omodei, Daniela; Fontana, Luigi

    2011-01-01

    Life expectancy in the world has increased dramatically during the last century; the number of older adults is expected to rise while the number of youths will decline in the near future. This demographic shift has considerable public health and economic implications since aging is associated with the development of serious chronic diseases. Calorie restriction (CR) is the most effective nutritional intervention for slowing aging and preventing chronic disease in rodents. In non-human and hum...

  11. Adiponectin and chronic kidney disease; a review on recent findings

    OpenAIRE

    Heidari Maryam; Nasri Parto; Nasri Hamid

    2015-01-01

    Adiponectin is a multifunctional cytokine that has a role in regulating inflammation. In patients without chronic renal failure (CRF) and type 2 diabetics, decreased adiponectin levels are associated with insulin resistance. Lower serum plasma adiponectin values are link to larger tumor size and metastasis in clear-cell carcinoma of the kidney too. However, in patients with established chronic kidney disease (CKD), adiponectin levels are elevated and positively predict progression of disease....

  12. Chronic respiratory disease in premature infants caused by Chlamydia trachomatis.

    OpenAIRE

    Numazaki, K; Chiba, S.; Kogawa, K; Umetsu, M; Motoya, H; Nakao, T.

    1986-01-01

    The relation between chronic respiratory disease and infection with Chlamydia trachomatis in premature infants was investigated to ascertain the aetiological importance of intrauterine C trachomatis infection and chronic respiratory disease in premature infants. Serum IgM antibodies against C trachomatis were determined by enzyme linked fluorescence assay. Sections of lung tissues obtained by biopsy and at necropsy were also tested for the presence of antigens using fluorescein conjugated mon...

  13. An SLE patient with prolactinoma and recurrent granulomatous mastitis successfully treated with hydroxychloroquine and bromocriptine.

    Science.gov (United States)

    Zhang, L-N; Shi, T-Y; Yang, Y-J; Zhang, F-C

    2014-04-01

    Granulomatous mastitis (GM) is a rare benign mammary lesion in which autoimmunity and hyperprolactinemia are considered possible etiological factors. GM has a high frequency of relapse and may lead to chronic ulceration and fistula if not treated properly. Here we report a case of a 22-year-old systemic lupus erythematosus (SLE) patient with three years' disease duration, stable on prednisone and hydroxychloroquine, who was found to have prolactinoma and recurrent GM after she discontinued medication on her own accord. The patient subsequently recovered and remained free of GM relapse under treatment of prednisone, hydroxychloroquine and bromocriptine. Though autoimmune disorders and prolactinoma were reported in GM, a coexisting condition of SLE, prolactinoma, and granulomatous mastitis has rarely been observed in one patient. We suggest our case as an illustrative example of the complex interaction between autoimmunity, neuroendocrine dysfunction, and manifestations in the breast: Immunological disturbances in the background of SLE, coupled with elevated prolactin levels secondary to a prolactinoma, may have predisposed the patient to the development of GM. The mammary lesion recovered and maintained free of relapse under immunosuppressive and antiprolactinemic therapy. PMID:24446305

  14. Anemia and pregnancy: a link to maternal chronic diseases.

    Science.gov (United States)

    Gangopadhyay, Raja; Karoshi, Mahantesh; Keith, Louis

    2011-11-01

    Anemia is a global public health problem. It has serious short- and long-term consequences during pregnancy and beyond. The anemic condition is often worsened by the presence of other chronic diseases such as malaria, tuberculosis, HIV, and diabetes. Untreated anemia also leads to increased morbidity and mortality from these chronic conditions as well. It is surprising that despite these chronic conditions (such as malaria, tuberculosis, and HIV) often being preventable, they still pose a real threat to public health. This article aims to review the current understanding of the pathophysiology, risks, prevention, and treatment of anemia in the light of these chronic conditions. PMID:22099433

  15. Pulmonary hypertension in chronic obstructive pulmonary disease

    International Nuclear Information System (INIS)

    Pulmonary hypertension (PH) is a relatively common complication of chronic obstructive pulmonary disease (COPD). Its appearance during the course of COPD is associated with a worsened prognosis, due to reduced life expectancy and greater use of health care resources. Although a well-defined lineal relationship has not been shown, the prevalence of PH in patients with COPD is higher in cases characterized by greater obstruction and severity. PH is infrequent in cases of mild and moderate COPD. In cases of COPD, PH is generally mild or moderate, and seldom impairs right ventricular function. In many cases it is not apparent during rest, and manifests itself during exercise. PH can be severe or out of proportion with the severity of COPD. In this situation, the possibility of associated conditions should be explored, although COPD might be the only final explanation. There is scarce knowledge about the prevalence and behavior of PH in patients with COPD residing at intermediate and high altitudes (>2.500 meters above sea level), which is a common situation in Latin America and Asia. PH in COPD is not exclusively related with hypoxia/hypoxaemia and hypercapnia. The mechanical disturbances related with COPD (hyper inflation and high alveolar pressure) and inflammation may prevail as causes of endothelial injury and remodeling of pulmonary circulation, which contribute to increased pulmonary vascular pressure and resistance. The appearance of signs of corpulmonale indicates advanced PH. This condition should therefore be suspected early when dyspnoea, hypoxaemia, and impairment of diffusion are not in keeping with the degree of obstruction. PH is confirmed by Doppler echocardiography. Right heart catheterization may be justified in selected cases. Long-term oxygen therapy is the only intervention proven to be temporarily useful. Conventional vasodilators do not produce medium- or long-term improvement and can be detrimental to the ventilation-perfusion relation. Neither

  16. Vascular cognitive impairments in chronic kidney disease

    Directory of Open Access Journals (Sweden)

    I. V. Rogova

    2015-01-01

    Full Text Available Objective: to study the specific features of development of cognitive impairments (CIs, the role of traditional cardiovascular risk factors and renal failure-induced factors in patients with Stages I–IV chronic kidney disease (CKD and to assess an association of CIs with the signs of vascular wall remodeling in them. Patients and methods. Fifty-one patients aged 53±10 years with CKD were examined. Among them, there were 20 patients with Stages I–II CKD: a glomerular filtration rate (GFR of і60 ml/min/1.73 m2, signs of renal lesion; 20 with Stages III CKD: a GFR of <60–30 ml/min/1.73 m2, and 11 with Stages VI CKD: a GFR of <30–15 ml/min/1.73 m2. Results and discussion. CIs were more common in the patients with Stages III–IV than in those with Stages I–II, as shown by the scores of the mini-mental state examination (p<0.001, the frontal assessment battery (p=0.001, and the regulatory function test (p<0.001. These tests showed that the magnitude of CIs increased with the higher stage of CKD. Stages III–IV CKD is an independent predictor of CIs in persons with predialysis-stage kidney lesion. CIs were found to be related to hyperhomocysteinemia, anemia, abdominal obesity, left ventricular hypertrophy, and patient age. The signs of atherosclerotic lesion of the common carotid arteries and the indicators of arterial stiffness were also associated with the incidence and magnitude of CIs in CKD. The detection of CIs in patients with early CKD allows one to timely initiate adequate therapy aimed particularly at improving cerebral circulation, eliminating the impact of risk factors, and slowing down the vascular remodeling. The management tactics for patients with CKD must involve the identification and correction of cardiovascular risk factors, and duplex scanning of the wall of the common carotid arteries may be used as a noninvasive method to assess the risk of the development and progression of CIs in predialysis CKD. 

  17. Is Progressive Chronic Kidney Disease a Slow Acute Kidney Injury?

    Science.gov (United States)

    Cowgill, Larry D; Polzin, David J; Elliott, Jonathan; Nabity, Mary B; Segev, Gilad; Grauer, Gregory F; Brown, Scott; Langston, Cathy; van Dongen, Astrid M

    2016-11-01

    International Renal Interest Society chronic kidney disease Stage 1 and acute kidney injury Grade I categorizations of kidney disease are often confused or ignored because patients are nonazotemic and generally asymptomatic. Recent evidence suggests these seemingly disparate conditions may be mechanistically linked and interrelated. Active kidney injury biomarkers have the potential to establish a new understanding for traditional views of chronic kidney disease, including its early identification and possible mediators of its progression, which, if validated, would establish a new and sophisticated paradigm for the understanding and approach to the diagnostic evaluation, and treatment of urinary disease in dogs and cats. PMID:27593574

  18. Influence of chronic kidney disease on the outcome of patients with chronic total occlusion

    OpenAIRE

    Zhang, Qing-Bin; Chen, Li-Ming; Min LI; Cui, Yu-Qi; Zhao, Chuan-Yan; Cui, Lian-Qun

    2016-01-01

    Objective: Chronic kidney disease (CKD) predicted a poor prognosis in patients with coronary artery disease. There is a paucity of data on outcomes after revascularization in patients with chronic total occlusion (CTO) and CKD. This study aims to investigate the impact of CKD on the revascularization of CTO. Methods: This study enrolled 1,092 CTO patients received treatments in our hospital between February 2009 and January 2014. Major adverse cardiac and cerebrovascular events (MACCE) and al...

  19. The impact of chronic heart failure on misinterpretation and misclassification of chronic obstructive pulmonary disease severity

    OpenAIRE

    Vyshnyvetskyy, I.I.; Borovtsova, A. Yu.

    2016-01-01

    Aim. To evaluate the impact of comorbid chronic heart failure (CHF) on the severity of symptoms and correctness of chronic obstructive pulmonary disease (COPD) classification.Materials and methods. Cross-sectional study included 177 patients with COPD and concomitant cardiovascular diseases. All patients were undergone spirometry, chest radiography, echocardiography, validated questionnaires (COPD assessment test (CAT), Hospital anxiety and depression scale (HADS)). Multiple regression was us...

  20. The impact of chronic pain on direct medical utilization and costs in chronic obstructive pulmonary disease

    OpenAIRE

    Roberts MH; Mapel DW; Thomson HN

    2015-01-01

    Melissa H Roberts,1 Douglas W Mapel,1 Heather N Thomson2 1Lovelace Clinic Foundation, Albuquerque, NM, USA; 2Endo Pharmaceuticals, Malvern, PA, USA Objective: To examine how pain affects health care utilization and direct medical costs in individuals with chronic obstructive pulmonary disease (COPD) compared to patients with other chronic diseases. Study design: A retrospective cohort analysis using administrative data of a managed health care system in the Southwestern US for years 2006&...