7,691 results match your criteria Chronic Granulomatous Disease


Behçet's Uveitis: Current Diagnostic and Therapeutic Approach

Turk J Ophthalmol 2020 06;50(3):169-182

University of Health Sciences Turkey, Ulucanlar Eye Training and Research Hospital, Clinic of Ophthalmology, Ankara, Turkey.

Behçet's disease is a chronic, multisystem inflammatory disorder characterized by relapsing inflammation. Although its etiopathogenesis has not yet been clarified, both the adaptive and innate immune systems, genetic predisposition, and environmental factors have all been implicated. It is more frequent and more severe in males in the third and fourth decades of life. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4274/tjo.galenos.2019.60308DOI Listing

Disseminated Intravascular Infection Caused by Case Report and Review of the Literature.

Open Forum Infect Dis 2020 Jun 15;7(6):ofaa166. Epub 2020 May 15.

Massachusetts General Hospital, Boston, Massachusetts, USA.

is a ubiquitous environmental saprophyte with worldwide distribution. Commonly found in soil and decomposing organic material [1, 2], can also be isolated from drinking water [3] and indoor and outdoor air [4-6]. In immunocompetent hosts, has been reported as a cause of locally invasive disease including prosthetic valve endocarditis [7, 8], endophthalmitis [9, 10], rhinosinusitis [11, 12], and dialysis-associated peritonitis [13, 14]. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ofid/ofaa166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314584PMC

Solid Pseudopapillary Tumor of the Pancreas in a Patient With Sarcoidosis: A Rare Combination.

Cureus 2020 May 28;12(5):e8340. Epub 2020 May 28.

Gastroenterology, Creighton University School of Medicine, St. Joseph's Hospital and Medical Center, Phoenix, USA.

Sarcoidosis is a chronic granulomatous disease that is characterized by the formation of non-caseating granulomas, predominantly involving the lung and lymph nodes. Over the years, sarcoidosis has been associated with a high risk of malignancy. Solid pseudopapillary tumor of the pancreas is an uncommon pancreatic tumor with a 15% malignant potential. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.8340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325336PMC

Haematopoietic Cell Transplantation in Chronic Granulomatous Disease: a Study on 712 Children and Adults.

Blood 2020 Jul 2. Epub 2020 Jul 2.

Newcastle University, United Kingdom.

Chronic Granulomatous Disease (CGD) is a primary immunodeficiency resulting in life-threatening infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (allo-HCT) can cure patients, but indication to transplant remains controversial. We performed a retrospective multicentre study on 712 patients with CGD undergoing allo-HCT transplanted in EBMT centres between 1993 and 2018. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood.2020005590DOI Listing

Krebs von den Lungen-6 as biomarker for disease severity assessment in interstitial lung disease: a comprehensive review.

Biomark Med 2020 Jul 2. Epub 2020 Jul 2.

Respiratory Diseases & Lung Transplantation, Department of Medical & Surgical Sciences & Neurosciences, Siena University Hospital, Siena, Italy.

Interstitial lung diseases (ILD) are a group of lung disorders characterized by interstitial lung thickening. Krebs von den Lungen-6 (KL-6) is a molecule that is predominantly expressed by damaged alveolar type II cells and it has been proposed as a potential biomarker of different ILD. A growing literature about KL-6 has been reviewed and selected to evaluate its role in the clinical management of ILD to predict disease diagnosis, activity, prognosis and treatment response. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/bmm-2019-0545DOI Listing

Incidental hepatic tuberculosis during planned resection of locally advanced ampullary carcinoma: a case report.

BMC Surg 2020 Jun 30;20(1):145. Epub 2020 Jun 30.

Department of Surgery, Faculty of Medicine and Health Sciences, Universiti Malaysia Sabah, Kota Kinabalu, Sabah, Malaysia.

Background: Tuberculosis (TB) is classified according to the site of disease as pulmonary or extrapulmonary. Extrapulmonary TB is less common than its counterpart in which it can be found anywhere in the body including the liver. Similar to ampullary carcinoma, TB liver can manifest with jaundice and deranged liver function tests, particularly in the obstructed biliary systems. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12893-020-00806-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325297PMC
June 2020
1.240 Impact Factor

Intralesional Corticosteroids as Adjunctive Therapy for Refractory Cutaneous Lesions in Chronic Granulomatous Disease.

J Allergy Clin Immunol Pract 2020 Jun 26. Epub 2020 Jun 26.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas; Section of Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2020.05.015DOI Listing

Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.

Autoimmunity 2020 Jun 29:1-9. Epub 2020 Jun 29.

División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social.

Blau syndrome (BS) is a rare, chronic autoinflammatory disease with onset before age 4 and mainly characterised by granulomatous arthritis, recurrent uveitis, and skin rash. Sporadic (also known as early-onset sarcoidosis) or familial BS is caused by gain-of-function mutations in the gene, which encodes for a multi-task protein that plays a crucial role in the innate immune defense. We report on three Mexican patients clinically diagnosed with BS who exhibited a likely pathogenic variant in as revealed by whole-exome sequencing (WES) and Sanger sequencing: two variants (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08916934.2020.1786068DOI Listing

Renal Tuberculosis Following Intravesical Bacillus Calmette-Guérin (BCG) Immunotherapy for the Treatment of Bladder Cancer.

Med Arch 2020 Apr;74(2):146-150

Urology Clinic, University Clinical Center of Sarajevo, Sarajevo, Bosnia and Herzegovina.

Introduction: Non-muscle-invasive bladder cancer (NMIBC) is usually effectively treated with transurethral resection (TUR), most often followed by intravesical instillation of bacillus Calmette-Guérin (BCG) or intravesical chemotherapy. Although the precise mechanism of BCG immunotherapy is still unclear, a local immune response is presumed. However, a number of severe side effects and complications are related to intravesical immunotherapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5455/medarh.2020.74.146-150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296402PMC

Conventional Photodynamic Therapy for Necrobiosis Lipoidica: Successful Treatment in a Series of 4 Cases.

Actas Dermosifiliogr 2020 Jun 20. Epub 2020 Jun 20.

Servicio de Dermatología, Instituto Valenciano de Oncología (IVO), Valencia, España.

Necrobiosis lipoidica is a rare chronic granulomatous disease. Multiple treatment approaches are available, but results are generally minimal and inconsistent. Some publications report variable results with photodynamic therapy (PDT) as a second line of treatment for refractory cases. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2019.01.022DOI Listing

A severe presentation of chronic non-infectious osteomyelitis associated with ulcerative colitis: a case report.

BMC Pediatr 2020 Jun 22;20(1):304. Epub 2020 Jun 22.

Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition, West Virginia University Health Sciences Center, PO Box 9214, Morgantown, WV, 26506, USA.

Background: Chronic Non-Infectious Osteomyelitis (CNO) is a chronic, relapsing, self-limiting inflammation of the bone. Although it is rare, CNO has been associated with inflammatory bowel disease and frequently precedes the initial diagnosis. We present a case of CNO in a patient with known ulcerative colitis in clinical remission who presented with purulent multifocal joint effusions in the setting of elevated inflammatory markers and fever suspicious for bacterial osteomyelitis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12887-020-02215-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310113PMC

Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series.

J Clin Immunol 2020 Jun 19. Epub 2020 Jun 19.

Pediatric Immuno-Hematology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades University Hospital, Paris, France.

Background: X-linked chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the CYBB gene (located on Xp21.1). Patients with large deletions on chromosome Xp21. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-020-00791-wDOI Listing

Safety and efficacy of abatacept in patients with treatment-resistant SARCoidosis (ABASARC) - protocol for a multi-center, single-arm phase IIa trial.

Contemp Clin Trials Commun 2020 Sep 29;19:100575. Epub 2020 May 29.

Department of Pneumology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Introduction: Sarcoidosis is a granulomatous systemic disease that becomes chronic in approximately one third of affected patients resulting in quality of life and functional impairment. Immunosuppressive drugs other than steroids represent alternative therapeutic options, but side effects like liver and bone marrow toxicity or increased susceptibility to infections limit their use. Pathophysiological studies in sarcoidosis patients demonstrate altered regulatory T-cell functions with a reduced expression of CTLA-4 (CD152) and prolonged inflammation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.conctc.2020.100575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7292904PMC
September 2020

Preclinical Development of Autologous Hematopoietic Stem Cell-Based Gene Therapy for Immune Deficiencies: A Journey from Mouse Cage to Bed Side.

Pharmaceutics 2020 Jun 13;12(6). Epub 2020 Jun 13.

Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, 2333ZA Leiden, The Netherlands.

Recent clinical trials using patient's own corrected hematopoietic stem cells (HSCs), such as for primary immunodeficiencies (Adenosine deaminase (ADA) deficiency, X-linked Severe Combined Immunodeficiency (SCID), X-linked chronic granulomatous disease (CGD), Wiskott-Aldrich Syndrome (WAS)), have yielded promising results in the clinic; endorsing gene therapy to become standard therapy for a number of diseases. However, the journey to achieve such a successful therapy is not easy, and several challenges have to be overcome. In this review, we will address several different challenges in the development of gene therapy for immune deficiencies using our own experience with Recombinase-activating gene 1 (RAG1) SCID as an example. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/pharmaceutics12060549DOI Listing

Lentiviral gene therapy rescues p47 chronic granulomatous disease and the ability to fight Salmonella infection in mice.

Gene Ther 2020 Jun 12. Epub 2020 Jun 12.

Molecular and Cellular Immunology Unit, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder characterised by recurrent and often life-threatening infections and hyperinflammation. It is caused by defects of the phagocytic NADPH oxidase, a multicomponent enzyme system responsible for effective pathogen killing. A phase I/II clinical trial of lentiviral gene therapy is underway for the most common form of CGD, X-linked, caused by mutations in the gp91 subunit of the NADPH oxidase. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41434-020-0164-6DOI Listing

Chronic Granulomatous Disease: a Comprehensive Review.

Clin Rev Allergy Immunol 2020 Jun 10. Epub 2020 Jun 10.

Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.

Chronic granulomatous disease (CGD) is a primary immunodeficiency of phagocyte function due to defective NADPH oxidase (phox). Compared with the common types of CYBB/gp91, NCF1/p47, and CYBA/p22 deficiency, NCF4/p40 deficiency is a mild and atypical form of CGD without invasive bacterial or fungal infections. It can be diagnosed using serum-opsonized E. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12016-020-08800-xDOI Listing

Pancreatic Sarcoidosis: A Very Rare Presentation of the Disease.

Cureus 2020 May 6;12(5):e7996. Epub 2020 May 6.

Rheumatology, Henry Ford Health System, Detroit, USA.

Sarcoidosis is a multisystem chronic granulomatous disease of unknown etiology that predominantly affects the lungs, but the disease process can affect any other organ. Gastrointestinal involvement remains rare, thus diagnosis remains challenging. Obtaining laboratory findings and pathological evidence of the non-caseating non-necrotizing granulomas in the appropriate clinical picture can help guide the diagnosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.7996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274262PMC

Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.

Int Arch Allergy Immunol 2020 8;181(7):540-550. Epub 2020 Jun 8.

Department of Pediatric Infectious Disease, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey.

Background: Chronic granulomatous disease (CGD) is a rare genetic disorder characterized by failure of phagocytic leukocytes to destroy certain microbes. We present a study on CGD patients enrolled at a single medical center concerning the infectious and noninfectious complications and genetic properties of the disease.

Methods: Icotinamide adenine dinucleotide phosphate oxidase activity and the expression of flavocytochrome b558 were measured by flow cytometry, and clinical outcomes of the patients were listed in relation to the genetic results. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000507366DOI Listing
June 2020
2.673 Impact Factor

Pathogenetic mechanism of oral granulomatous diseases: An update.

J Family Med Prim Care 2020 Mar 26;9(3):1283-1286. Epub 2020 Mar 26.

Department of Oral and Maxillofacial Surgery and Diagnostic Sciences, Riyadh Elm University, Riyadh, Kingdom of Saudi Arabia.

Oral granulomatous diseases are an intriguing group of lesions characterized by granuloma formation. Mechanisms of granuloma formation differ from disease-to-disease. This article provides an insight into common granulomatous pathogenic mechanisms involving these lesions including immunodeficient states. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/jfmpc.jfmpc_1162_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7266191PMC

Late diagnosis of Chronic Granulomatous Disease.

Clin Exp Immunol 2020 Jun 7. Epub 2020 Jun 7.

Pediatric Ward A, The Edmond and Lily Safra Children`s Hospital, Sheba Medical Center, Israel.

Modern era advancements in medical care, with improved treatment of infections, can result in delayed diagnosis of congenital immunodeficiencies. In this study we present a retrospective cohort of 16 patients diagnosed with Chronic Granulomatous Disease (CGD) at adulthood. Some of the patients had a milder clinical phenotype, but others had a classic phenotype with severe infectious and inflammatory complications reflecting a profoundly impaired neutrophil function. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cei.13474DOI Listing

Clinical manifestations and genetic analysis of 4 children with chronic granulomatous disease.

Medicine (Baltimore) 2020 Jun;99(23):e20599

Pediatricians are unfamiliar with chronic granulomatous disease (CGD) because of its rarity and paucity of available data, potentially leading to misdiagnosis, late treatments, and mortality. The main purpose of this study was to summarize the clinical manifestations and auxiliary examination findings of four children with CGD confirmed by genetic testing.This was a case series study of children hospitalized at the Pediatric Respiratory Department of Shandong Provincial Hospital. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000020599DOI Listing

Age Associated B Cells Appear in Patients with Granulomatous Lung Diseases.

Am J Respir Crit Care Med 2020 Jun 5. Epub 2020 Jun 5.

National Jewish Health, 2930, Denver, Colorado, United States;

Rationale: A subpopulation of B cells (ABCs) is increased in mice and humans with infections or autoimmune diseases. Since depletion of these cells might be valuable in patients with certain lung diseases, the goal was to find out if ABC-like cells were at elevated levels in such patients.

Objectives: To measure ABC-like cell percentages in patients with lung granulomatous diseases. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1164/rccm.201911-2151OCDOI Listing

Inactivation of Rho GTPases by Burkholderia cenocepacia Induces a WASH-Mediated Actin Polymerization that Delays Phagosome Maturation.

Cell Rep 2020 Jun;31(9):107721

Program in Cell Biology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Burkholderia cenocepacia is an opportunistic bacterial pathogen that causes severe pulmonary infections in cystic fibrosis and chronic granulomatous disease patients. B. cenocepacia can survive inside infected macrophages within the B. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2020.107721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315377PMC

Case of mucormycosis of mandible after self-extraction of teeth incidentally detected to have chronic granulomatous disease: Case report and literature review.

Med Mycol Case Rep 2020 Jun 11;28:55-59. Epub 2020 Apr 11.

Department of Medicine, All India Institute of Medical Science, New Delhi, 110029, India.

Mucormycosis isolated to the mandible is a rare presentation occurring generally after dental procedures. The case we report presented with discharging sinuses over facial region with radiological appearance of isolated osteomyelitis of the mandible. The patient used to apply an addictive dental powder over his teeth leading to caries. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mmcr.2020.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248539PMC

Spirometry, cardiopulmonary exercise testing and the six-minute walk test results in sarcoidosis patients.

Sarcoidosis Vasc Diffuse Lung Dis 2019 1;36(3):185-194. Epub 2019 May 1.

Chronic Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: The 6-minute walking test, cardiopulmonary exercise testing, and spirometry are useful tools for evaluation of respiratory impairment and functional capacity in patients with lung disease. Sarcoidosis is a multisystem granulomatous disease of unknown etiology.

Objectives: Since the pulmonary involvement can affect the quality of life in sarcoidosis patients, this study is aimed to evaluate the tests mentioned above in order to examine the functional capacity of sarcoidosis patients in different stages as well as the cause of exercise intolerance. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.36141/svdld.v36i3.7663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247088PMC

Takayasu's Arteritis Presenting Atypically in a Female Nigerian.

West Afr J Med 2020 Jul-Aug;37(3):284-289

Rheumatology Unit, Department of Medicine, OAUTHC, Ile-Ife,Nigeria.

Takayasu's arteritis (TA) is an idiopathic form of large vessel granulomatous vasculitis that mainly affects the aorta and its major branches, most frequently in young women under 50 years. While traditionally, it is a disease found commonly in Asia continent, it has also been reported from different parts of the world, albeit with a few reports from Sub-Sahara Africa. The clinical presentations are variable and are commonly from systemic inflammation, vascular occlusive diseases and aneurysm. Read More

View Article

Download full-text PDF

Source

Are we witnessing a paradigm shift in leprosy: Two atypical presentations of histoid hansen's disease.

Int J Mycobacteriol 2020 Jan-Mar;9(1):103-106

Department of Community Medicine, Armed Forces Medical College, Pune, Maharashtra, India.

Hansen's disease is a chronic infectious granulomatous disease with varied clinical presentation. In the postelimination era, histoid Hansen's disease is an important emerging lepromatous subset known to mimic varied dermatoses, thereby making clinical diagnosis difficult and often delayed. We report two cases of histoid Hansen's disease bereft of clinical cardinal signs of leprosy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijmy.ijmy_187_19DOI Listing

Giant cell aortitis.

Forensic Sci Med Pathol 2020 May 29. Epub 2020 May 29.

Department of Forensic Medicine, University Hospital Ostrava, CZ-708 52, Ostrava, Czech Republic.

Inflammatory aortic diseases are broadly classified into three categories according to the degree of inflammation: atherosclerosis, atherosclerosis with excessive inflammation, and aortitis/periaortitis. This paper presents a case of a 39-year old man with aneurysmal dilatation of thoracic aorta and aortic valve insufficiency. The aortic wall showed thickening and wrinkled "tree bark" appearance as well as apparent scarring of the intima. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12024-020-00242-3DOI Listing

In Vivo Transmigrated Human Neutrophils Are Highly Primed for Intracellular Radical Production Induced by Monosodium Urate Crystals.

Int J Mol Sci 2020 May 26;21(11). Epub 2020 May 26.

Department of Oral Microbiology and Immunology, Institute of Odontology, Sahlgrenska Academy at University of Gothenburg, 405 30 Gothenburg, Sweden.

Gout is an inflammatory disease caused by monosodium urate (MSU) crystals. The role of neutrophils in gout is less clear, although several studies have shown neutrophil extracellular trap (NET) formation in acutely inflamed joints of gout patients. MSU crystals are known to induce the production of reactive oxygen species (ROS) and NET formation in neutrophils isolated from blood, but there is inconclusive knowledge on the localization of ROS production as well as whether the ROS are required for NET formation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21113750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312864PMC

Mystery of a Family with Recurrent Male Infant Deaths- Solved by Autopsy and Molecular Tests.

Indian J Pediatr 2020 May 26. Epub 2020 May 26.

Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

The authors report a case of a six weeks old boy who presented with acute febrile illness and progressive abdominal distension. There was a significant family history of early male sibling deaths. Autopsy showed multiorgan abscesses. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-020-03304-0DOI Listing
May 2020
0.919 Impact Factor

Comparison of diagnostic sensitivity of [F]fluoroestradiol and [F]fluorodeoxyglucose positron emission tomography/computed tomography for breast cancer recurrence in patients with a history of estrogen receptor-positive primary breast cancer.

EJNMMI Res 2020 May 24;10(1):54. Epub 2020 May 24.

Department of Nuclear Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.

Background: To compare the diagnostic sensitivity of [F]fluoroestradiol ([F]FES) and [F]fluorodeoxyglucose ([F]FDG) positron emission tomography/computed tomography (PET/CT) for breast cancer recurrence in patients with estrogen receptor (ER)-positive primary breast cancer.

Methods: Our database of consecutive patients enrolled in a previous prospective cohort study to assess [F]FES PET/CT was reviewed to identify eligible patients who had ER-positive primary breast cancer with suspected first recurrence at presentation and who underwent [F]FDG PET/CT. The sensitivity of qualitative [F]FES and [F]FDG PET/CT interpretations was assessed, comparing them with histological diagnoses. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13550-020-00643-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246280PMC

Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population.

PLoS One 2020 21;15(5):e0233464. Epub 2020 May 21.

Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.

Vogt-Koyanagi-Harada (VKH) disease is a systemic inflammatory disorder that affects pigment cell-containing organs such as the eye (e.g., chronic and/or recurrent granulomatous panuveitis). Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233464PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241744PMC

Clinical analysis of 16 cases of pulmonary cryptococcosis in patients with normal immune function.

Ann Palliat Med 2020 May 15;9(3):1117-1124. Epub 2020 May 15.

Department of Pulmonary and Critical Care Medicine, Beijing Shijitan Hospital, Capital Medical University, Beijing 100038, China.

Background: Pulmonary cryptococcosis (PC) is an invasive pulmonary fungal disease caused by Cryptococcus neoformans or Cryptococcus gattii. Cryptococcus is the opportunistic pathogen. Immune damage and chronic consumptive diseases are the high risk. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.21037/apm-20-897DOI Listing

Calvarial Tuberculosis Presenting with Skin Defect in an Elderly Patient.

World Neurosurg 2020 May 16;140:267-270. Epub 2020 May 16.

Department of Pathology, Yeungnam University Hospital, Yeungnam University College of Medicine, Daegu, South Korea.

Background: Tuberculosis is a common disease; however, the prevalence of calvarial tuberculosis is very rare. Most cases of calvarial tuberculosis occur in young patients. We report a rare case of calvarial tuberculosis in an elderly patient. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.wneu.2020.05.076DOI Listing

CRISPR-Directed Therapeutic Correction at the Locus Is Challenged by Frequent Incidence of Chromosomal Deletions.

Mol Ther Methods Clin Dev 2020 Jun 25;17:936-943. Epub 2020 Apr 25.

Division of Gene and Cell Therapy, Institute for Regenerative Medicine, University of Zurich, 8952 Schlieren-Zurich, Switzerland.

Resurrection of non-processed pseudogenes may increase the efficacy of therapeutic gene editing, upon simultaneous targeting of a mutated gene and its highly homologous pseudogenes. To investigate the potency of this approach for clinical gene therapy of human diseases, we corrected a pseudogene-associated disorder, the immunodeficiency p47 -deficient chronic granulomatous disease (p47 CGD), using clustered regularly interspaced short palindromic repeats-associated nuclease Cas9 (CRISPR-Cas9) to target mutated neutrophil cytosolic factor 1 (). Being separated by less than two million base pairs, and two pseudogenes are closely co-localized on chromosome 7. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.omtm.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217921PMC

Safety of tunneled central venous catheters in pediatric hematopoietic stem cell recipients with severe primary immunodeficiency diseases.

PLoS One 2020 15;15(5):e0233016. Epub 2020 May 15.

Department of Pediatric Surgery, University Hospital of Freiburg, Freiburg, Germany.

Tunneled central venous catheters (TCVCs) provide prolonged intravenous access for pediatric patients with severe primary immunodeficiency disease (PID) undergoing hematopoietic stem cell transplantation (HSCT). However, little is known about the epidemiology and clinical significance of TCVC-related morbidity in this particular patient group. We conducted the retrospective analysis of patients with severe PID who received percutaneous landmark-guided TCVC implantation prior to HSCT. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233016PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228048PMC

Comparative Histopathologic Analysis of Granulomatous Tissue of Endodontic and Periodontal Origin.

Int J Oral Maxillofac Implants 2020 May/Jun;35(3):585-590

Purpose: The aim of this study was to compare the percentage of tissue types and assess the presence/absence of odontoblasts or preodontoblasts in granulation tissue harvested from lesions associated with teeth extracted due to endodontic and periodontal reasons.

Materials And Methods: Histologic reports of cases with a confirmed diagnosis (ie, endodontic or periodontal diseases) were included. These should include a semiquantitative analysis of the percentage of tissue types per sample (ie, epithelium, subepithelial connective tissue, bone or chronic inflammation/deep connective tissue). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11607/jomi.8076DOI Listing

A Monocentric, Retrospective Analysis of 61 Patients with Generalized Granuloma Annulare.

Dermatology 2020 May 13:1-6. Epub 2020 May 13.

Department of Dermatology, University Hospital Zurich, Zurich, Switzerland,

Background: Granuloma annulare is a chronic noninfectious granulomatous skin condition with variable clinical presentations. Generalized granuloma annulare, defined as widespread disease with >10 skin lesions, accounts for 15% of all cases. Numerous associated diseases have been controversially discussed, most importantly diabetes mellitus, dyslipidemia, thyroid disease, malignancy and systemic infections. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000507247DOI Listing

Inducing cellular immune responses with a marked Mycobacterium avium subsp. paratuberculosis strain in dairy calves.

Vet Microbiol 2020 May 11;244:108665. Epub 2020 Apr 11.

Department of Production Animal Health, Faculty of Veterinary Medicine, University of Calgary, Calgary, Alberta, Canada. Electronic address:

Mycobacterium avium subsp. paratuberculosis (MAP) is the etiological agent of Johne's disease, a chronic granulomatous enteritis with a high global prevalence in dairy cattle. This disease causes significant economic loss in the dairy industry and has been challenging to control, as current diagnostic assays are low in sensitivity and specificity, and previously developed vaccines do not prevent infection and face regulatory concerns due to interference with bovine tuberculosis diagnostics. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.vetmic.2020.108665DOI Listing

Pleural Sarcoidosis and Occult Lymphatic Anthracosis: An Unusual Symptomatic Association.

Eur J Case Rep Intern Med 2020 17;7(5):001479. Epub 2020 Mar 17.

Department of Internal Medicine, Hospital Garcia de Orta, Almada, Portugal.

Sarcoidosis is a chronic multisystemic inflammatory disease of unknown aetiology. Virtually any organ or system can be involved, resulting in a wide range of clinical presentation. Pleural sarcoidosis is rare. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12890/2020_001479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213820PMC

Systemic Redox Imbalance in Patients with Chronic Granulomatous Disease.

J Clin Med 2020 May 9;9(5). Epub 2020 May 9.

Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Waszyngtona 17, 15-274 Bialystok, Poland.

The aim of our study was to evaluate redox status, enzymatic and non-enzymatic antioxidant barriers, oxidative damage of proteins, lipids and DNA, as well as concentration of coenzyme Q10 and vitamins A and E in patients with chronic granulomatous disease (CGD). The study was performed on fifteen Caucasian individuals (median age 24 years and seven months) diagnosed with CGD. The mutation in the gene was confirmed in ten patients, and in the gene in five patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcm9051397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290492PMC

Thoracic Manifestations of Primary Immunodeficiency Disorders.

Indian J Pediatr 2020 May 8. Epub 2020 May 8.

Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, 110029, India.

Primary immunodeficiency disorders (PIDD) are a group of disorders presenting with recurrent infections. The authors retrospectively reviewed the imaging records of 24 proven cases of PIDD and correlated the imaging findings with the type of defect. Final diagnoses were categorized in four groups; Group I (humoral immunodeficiency), Group 2 (cell mediated immunodeficiency), Group 3 (phagocytic disorders) and Group 4 (others). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-020-03289-wDOI Listing

Climate, soil type, and geographic distribution of actinomycetoma cases in Northeast Mexico: A cross-sectional study.

PLoS One 2020 8;15(5):e0232556. Epub 2020 May 8.

Servicio de Dermatología, Facultad de Medicina y Hospital Universitario, Universidad Autónoma de Nuevo León, Monterrey, Mexico.

Background: Mycetoma is a chronic, granulomatous infection of subcutaneous tissue, that may involve deep structures and bone. It can be caused by bacteria (actinomycetoma) or fungi (eumycetoma). There is an epidemiological association between mycetoma and the environment, including rainfall, temperature and humidity but there are still many knowledge gaps in the identification of the natural habitat of actinomycetes, their primary reservoir, and their precise geographical distribution. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232556PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209257PMC

[Disseminated Aspergillus siamensis infection following haploidentical bone marrow transplantation for chronic granulomatous disease].

Rinsho Ketsueki 2020 ;61(4):327-333

Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital.

An 18-year-old male patient who had been diagnosed with chronic granulomatous disease at 2 years old and suffering from repeated severe infections underwent human leukocyte antigen haploidentical bone marrow transplantation from his mother using reduced intensity conditioning. After engraftment, donor lymphocyte infusion was initiated to decrease donor chimerism on day 96. On day 120, acute graft-versus-host disease occurred; hence, steroid administration was initiated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11406/rinketsu.61.327DOI Listing
January 2020

Investigation into the Pathology of Idiopathic Systemic Amyloidosis in Four Captive Badgers (Meles meles).

J Comp Pathol 2020 Apr 3;176:128-132. Epub 2020 Apr 3.

Pathology Department, Animal and Plant Health Agency, Weybridge, UK.

Systemic idiopathic amyloidosis was described in four captive badgers (Meles meles). Two animals (B1 and B2) were not enrolled in any trial, while animals B3 and B4 took part in a vaccine efficacy study and had been challenged with Mycobacterium bovis. A full set of tissues was collected and processed routinely for histopathological, immunohistochemical and ultrastructural studies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcpa.2020.02.012DOI Listing

[A chronic wound from Vietnam].

Hautarzt 2020 Jun;71(6):443-446

Abteilung Dermatologie, Venerologie und Allergologie, Fachbereich Tropenmedizin am Bernhard-Nocht-Institut, Bundeswehrkrankenhaus Hamburg, Bernhard-Nocht-Str. 74, 20359, Hamburg, Deutschland.

Chronic skin lesions that occur in patients who have previously stayed in tropical countries pose a diagnostic challenge for physicians. In particular, if there is a granulomatous inflammatory reaction histologically, infectious diseases should also be included in the differential diagnosis. Particularly in persons returning from high-risk regions such as Vietnam, this includes cutaneous tuberculosis, which entails a thorough examination of the patient and comprehensive therapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00105-020-04597-0DOI Listing

Leprosy in the twenty-first century: a microbiological, clinical, and epidemiological study in northwestern Spain.

Eur J Clin Microbiol Infect Dis 2020 Apr 28. Epub 2020 Apr 28.

Microbiology Department, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.

Leprosy, or Hansen's disease, is a chronic granulomatous disease caused by Mycobacterium leprae and the recently discovered Mycobacterium lepromatosis. In Spain and other countries, where leprosy has been eliminated, an increasing number of imported cases have been documented, especially from South Africa and South America. The diagnosis of leprosy is mainly clinical, based on the signs established by the World Health Organization (WHO), although laboratory tools can be useful for diagnostic confirmation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10096-020-03911-xDOI Listing

Neutrophil swarming delays the growth of clusters of pathogenic fungi.

Nat Commun 2020 Apr 27;11(1):2031. Epub 2020 Apr 27.

BioMEMS Resource Center, Massachusetts General Hospital, Boston, MA, 02129, USA.

Neutrophils employ several mechanisms to restrict fungi, including the action of enzymes such as myeloperoxidase (MPO) or NADPH oxidase, and the release of neutrophil extracellular traps (NETs). Moreover, they cooperate, forming "swarms" to attack fungi that are larger than individual neutrophils. Here, we designed an assay for studying how these mechanisms work together and contribute to neutrophil's ability to contain clusters of live Candida. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-020-15834-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184738PMC

Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease.

J Clin Immunol 2020 May 20;40(4):619-624. Epub 2020 Apr 20.

National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Dr., Rm. 6-3754, MSC 1763, Bethesda, MD, 20892-1456, USA.

Purpose: Haploidentical related donor (HRD) transplantation was performed in 7 recipients with chronic granulomatous disease (CGD) who had no matched-related or unrelated donor.

Methods: Peripheral blood cell (PBC) products were used with a conditioning regimen consisting of low-dose cyclophosphamide, fludarabine, total body irradiation, and busulfan. Graft-versus-host disease (GVHD) prophylaxis consisted of high-dose post-transplant cyclophosphamide and sirolimus. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-020-00772-zDOI Listing