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Chronic granulomatous disease

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https://www.readbyqxmd.com/read/29332657/primary-oral-tuberculosis-on-the-tongue-mimicking-squamous-cell-carcinoma
#1
Karandeep Singh Arora, Sunny Garg, Prabhpreet Kaur, Shreeyam Mohapatra
Tuberculosis is chronic granulomatous disease with rare oral manifestations. But if so are overlooked by most of the health care professionals. Clinically, most of the times, a tuberculous ulcer may mimic an ulcer of malignant origin and may be misdiagnosed. So, keeping in mind the etiology and the nature of the ulcer, it should be differentially diagnosed and a histopathological examination should only confirm the final diagnosis of the ulcer.
January 2018: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/29331982/a-false-carrier-state-for-the-c-579g-a-mutation-in-the-ncf1-gene-in-ashkenazi-jews
#2
Martin De Boer, Ronit Gavrieli, Karin van Leeuwen, Haike Reznik Wolf, Maya Dushnitzki, Yifaat Bar-Yosef, Anat Bar-Ziv, Doron Behar, Shlomo Lipitz, Tal Elkan Miller, Anton T J Tool, Taco W Kuijpers, Timo K van den Berg, Baruch Wolach, Dirk Roos, Elon Pras
BACKGROUND: Mutations in the NCF1 gene that encodes p47phox, a subunit of the NADPH oxidase complex, cause chronic granulomatous disease (CGD). In Kavkazi Jews, a c.579G>A (p.Trp193Ter) mutation in NCF1 is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. METHODS: We used Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), gene scan analysis and Ion Torrent Next Generation Sequencing for genetic analysis, and measured NADPH oxidase activity and p47phox expression...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29327613/potential-immunotherapies-for-sarcoidosis
#3
Van Le, Elliott D Crouser
Sarcoidosis is a chronic granulomatous inflammatory disease that commonly causes lung disease, but can affect other vital organs and tissues. The cause of sarcoidosis is unknown, and current therapies are commonly limited by lack of efficacy, adverse side effects, and excessive cost. Areas covered: The manuscript will provide a review of current concepts relating to the pathogenesis of sarcoidosis, and how these disease mechanisms may be leveraged to develop more effective treatments for sarcoidosis. It provides only a brief summary of currently accepted therapy, while focusing more extensively on potential novel therapies...
January 12, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29322122/granulomatous-mastitis-concurrence-with-breast-cancer
#4
Hasan Çalış, Asuman Kilitçi
Idiopathic Granulomatous Mastitis (IGM) is a rare, chronic, non-malignant and non-life-threatening breast disease. IGM may mimic carcinoma of the breast. This case report is about concurrence of chronic granulomatous mastitis with breast cancer. The important aspect of this case is that it is the 4th case where IGM and breast cancer are present concurrently.
January 2018: European Journal of Breast Health
https://www.readbyqxmd.com/read/29303283/-sarcoidosis-enigmatic-disease-still-unresolved
#5
Vítězslav Kolek, Monika Žurková, Vladimíra Lošťáková
Sarcoidosis is a systemic disease of unknown etiology, characterized by the presence of granulomatous inflammation in affected tissues. In about 90 % it affects the lungs, but it may basically affect any organ, the most frequently the skin, lymph nodes and eyes. In the case of classic lung manifestation this disease is not difficult to diagnose. When dealing with extrapulmonary manifestations, interdisciplinary cooperation is necessary. The treatment of sarcoidosis is needed in about half of the cases, in some 30 % of patients it may change into a chronic stage and possibly lead to serious health problems or premature death...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29299831/sarcoidosis-a-review-for-the-internist
#6
REVIEW
Elena Bargagli, Antje Prasse
Sarcoidosis is a systemic granulomatous lung disease of unknown origin affecting people of any age, mainly young adults. The disease is extremely heterogeneous with an unpredictable clinical course. Different phenotypes have been identified: an acute syndrome can be distinguished from subacute and chronic variants. About 20% of patients are chronically progressive and may develop lung fibrosis. Sarcoidosis usually involves the lungs and thoracic lymph nodes, although the skin, eyes, bones, liver, spleen, heart, upper respiratory tract and nervous system can also be affected...
January 3, 2018: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/29296942/gene-edited-pseudogene-resurrection-corrects-p47phox-deficient-chronic-granulomatous-disease
#7
Randall K Merling, Douglas B Kuhns, Colin L Sweeney, Xiaolin Wu, Sandra Burkett, Jessica Chu, Janet Lee, Sherry Koontz, Giovanni Di Pasquale, Sandra A Afione, John A Chiorini, Elizabeth M Kang, Uimook Choi, Suk See De Ravin, Harry L Malech
Pseudogenes are duplicated genes with mutations rendering them nonfunctional. For single-gene disorders with homologous pseudogenes, the pseudogene might be a target for genetic correction. Autosomal-recessive p47phox-deficient chronic granulomatous disease (p47-CGD) is a life-threatening immune deficiency caused by mutations in NCF1, a gene with 2 pseudogenes, NCF1B and NCF1C. The most common NCF1 mutation, a GT deletion (ΔGT) at the start of exon 2 (>90% of alleles), is constitutive to NCF1B and NCF1C...
January 10, 2017: Blood Advances
https://www.readbyqxmd.com/read/29278974/abdominal-angiostrongyliasis-a-presentation-of-eosinophilic-granulomatous-colitis
#8
Timothy Walls, Dominick Cavuoti, Nandini Channabasappa, Mary Yang, Paul Southern, Michelle A Gill, Jason Y Park
We present a case of a 4-year-old girl with abdominal angiostrongyliasis who presented with persistent fevers, hepatosplenomegaly, acute abdominal pain, and eosinophilia. Computed tomography scan identified thickening of the ascending colon with a narrowed lumen. Endoscopic evaluation revealed ulcerations and erythema in the ascending colon. The microscopic findings in biopsies included active chronic inflammation with prominent eosinophils and granulomas. A subset of granulomas contained the eggs of Angiostrongylus costaricensis...
December 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29248928/differential-kinetics-of-aspergillus-nidulans-and-aspergillus-fumigatus-phagocytosis
#9
Mark S Gresnigt, Katharina L Becker, Floris Leenders, M Fernanda Alonso, Xiaowen Wang, Jacques F Meis, Judith M Bain, Lars P Erwig, Frank L van de Veerdonk
Invasive aspergillosis mainly occurs in immunocompromised patients and is commonly caused by Aspergillus fumigatus, while A.nidulans is rarely the causative agent. However, in chronic granulomatous disease (CGD) patients, A. nidulans is a frequent cause of invasive aspergillosis and is associated with higher mortality. Immune recognition of A. nidulans was compared to A. fumigatus to offer an insight into why A. nidulans infections are prevalent in CGD. Live cell imaging with J774A.1 macrophage-like cells and LC3-GFP-mCherry bone marrow-derived macrophages (BMDMs) revealed that phagocytosis of A...
December 16, 2017: Journal of Innate Immunity
https://www.readbyqxmd.com/read/29233197/takayasu-arteritis-in-paediatrics
#10
Marisa Di Santo, Erica V Stelmaszewski, Alejandra Villa
Takayasu arteritis is an idiopathic chronic granulomatous panarteritis predominantly affecting the aorta and its main branches. Although idiopathic, genetic contribution to disease susceptibility is being increasingly recognised. Rare in children, Takayasu arteritis is a worldwide disease with significant morbidity and mortality. Its diagnosis is a challenge and requires awareness of the condition as clinical features at presentation are non-specific and assessing disease activity is difficult. In the inflammatory stage, treatment is essential to prevent the insidious course and vascular damage: stenotic, occlusive lesions, aneurysms, and aortic regurgitation...
December 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29232423/a-case-of-leprosy-in-central-florida
#11
Kathryn L Anderson, John P Minni, Michael A Nowak, Laszlo J Karai, Eugene Sanik
Hansen disease, also known as leprosy, is a chronic granulomatous infectious disease that is caused by Mycobacterium leprae. We report an unusual case of a 65-year-old man who presented with multiple anesthetic, annular, erythematous, scaly plaques with a raised border without any known exposures to leprosy. Histologic examination revealed a perineural lymphohistiocytic infiltrate and rare bacilli demonstrated on Fite staining. After confirmation with polymerase chain reaction (PCR) and consultation with the National Hansen's Disease Program (Baton Rouge, Louisiana), the patient was placed on a regimen of rifampicin 600 mg once monthly and dapsone 100 mg once daily for 6 months, which showed considerable improvement...
November 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29223406/chronic-granulomatous-disease-in-children-a-single-center-experience
#12
Alessandra Beghin, Marta Comini, Annarosa Soresina, Luisa Imberti, Michela Zucchi, Alessandro Plebani, Alessandro Montanelli, Fulvio Porta, Arnalda Lanfranchi
Chronic Granulomatous Disease (CGD) is caused by the failure of the phagocytes to kill pathogens. We carried out a retrospective analysis of cellular, molecular and clinical features of 14 young patients (mean age at the onset of symptoms and diagnosis: 10 and 25months, respectively), 7 with autosomal recessive and 7 X-linked form, referred to the Children's Hospital of Brescia between 1999 and 2016. Two new mutations were found, one localized in the CYBB and one in the NCF1 genes. Twelve patients were followed in our institution; the average length of their follow-up after diagnosis was 66months in X-linked patients and 126months in autosomal recessive inheritance...
December 6, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29212802/transcriptional-survey-of-alveolar-macrophages-in-a-murine-model-of-chronic-granulomatous-inflammation-reveals-common-themes-with-human-sarcoidosis
#13
Arjun Mohan, Anagha Malur, Matthew McPeek, Barbara P Barna, Lynn M Schnapp, Mary Jane Thomassen, Sina A Gharib
To advance our understanding of the pathobiology of sarcoidosis, we developed a multiwall carbon nanotube (MWCNT)-based murine model that shows marked histological and inflammatory signal similarities to this disease. In this study, we compared the alveolar macrophage transcriptional signatures of our animal model with human sarcoidosis to identify overlapping molecular programs. Whole-genome microarrays were used to assess gene expression of alveolar macrophages in 6 MWCNT-exposed and 6 control animals. The results were compared to the transcriptional profiles of alveolar immune cells in 15 sarcoidosis patients and 12 healthy humans...
December 6, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/29204384/approach-to-a-child-with-primary-immunodeficiency-made-simple
#14
REVIEW
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29191501/immunoprecipitation-high-performance-liquid-chromatographic-analysis-of-healing-process-in-chronic-suppurative-osteomyelitis-of-the-jaw
#15
Soung Min Kim, Mi Young Eo, Yun Ju Cho, Yeon Sook Kim, Suk Keun Lee
PURPOSE: Chronic suppurative osteomyelitis (CSO) of the jaw is one of the most difficult infectious diseases to manage, because it causes progressive bony destruction and is associated with bacterial inhabitation of the sequestra. A combination of antibiotic therapy and surgical debridement is often used to treat CSO. Nevertheless, various systemic conditions can lead to life-threatening complications. METHODS: The present study aimed to explore the wound healing progress in 16 cases of CSO through protein expression analysis of postoperative exudates (POE) that were collected 6 h, 1 day, and 2 days after saucerization and/or decortication...
October 27, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29172842/review-for-disease-of-the-year-clinic-of-cytomegalovirus-induced-anterior-uveitis
#16
Nicole Shu-Wen Chan, Soon-Phaik Chee, Laure Caspers, Bahram Bodaghi
Cytomegalovirus (CMV) anterior uveitis is the most common ocular manifestation of CMV disease in immunocompetent individuals. It is thought to be due to a local reactivation of latent CMV and is usually unilateral. The acute form presents as Posner-Schlossman Syndrome, a recurrent hypertensive anterior uveitis with few granulomatous keratic precipitates. There are geographic differences in the chronic form of CMV anterior uveitis. Asian patients commonly present as Fuchs Uveitis Syndrome with diffuse stellate keratic precipitates, while the European patients present with a chronic hypertensive anterior uveitis with fewer keratic precipitates that are brown in color and located inferiorly...
November 27, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/29168144/a-review-of-chronic-granulomatous-disease
#17
REVIEW
Danielle E Arnold, Jennifer R Heimall
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes. Patients with CGD are at increased risk of life-threatening infections with catalase-positive bacteria and fungi and inflammatory complications such as CGD colitis. The implementation of routine antimicrobial prophylaxis and the advent of azole antifungals has considerably improved overall survival. Nevertheless, life expectancy remains decreased compared to the general population...
December 2017: Advances in Therapy
https://www.readbyqxmd.com/read/29164142/pathogenesis-molecular-genetics-and-genomics-of-mycobacterium-avium-subsp-paratuberculosis-the-etiologic-agent-of-johne-s-disease
#18
REVIEW
Govardhan Rathnaiah, Denise K Zinniel, John P Bannantine, Judith R Stabel, Yrjö T Gröhn, Michael T Collins, Raúl G Barletta
Mycobacterium avium subsp. paratuberculosis (MAP) is the etiologic agent of Johne's disease in ruminants causing chronic diarrhea, malnutrition, and muscular wasting. Neonates and young animals are infected primarily by the fecal-oral route. MAP attaches to, translocates via the intestinal mucosa, and is phagocytosed by macrophages. The ensuing host cellular immune response leads to granulomatous enteritis characterized by a thick and corrugated intestinal wall. We review various tissue culture systems, ileal loops, and mice, goats, and cattle used to study MAP pathogenesis...
2017: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/29151337/coexistence-of-idiopathic-granulomatous-mastitis-and-erythemanodosum-successful-treatment-with-corticosteroids
#19
Murat Akın, Harun Karabacak, Güldal Esendağlı, Aydın Yavuz, Serap Gültekin, Kürşat Dikmen, Hasan Bostancı
Background/aim: Idiopathic granulomatous mastitis (IGM) is a rare, chronic inflammatory disease of the breast. Erythema nodosum (EN) is a rare extramammary manifestation of IGM. The purpose of this study is to determine the clinical and demographic characteristics of 11 IGM and EN patients and to evaluate the efficacy of methylprednisolone treatment. Materials and methods: In our series, ten patients had EN bilaterally, whereas one patient had a lesion of the right pretibial area. The mean age of the patients was 35...
November 13, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29145578/the-changing-paradigm-of-management-of-liver-abscesses-in-chronic-granulomatous-disease
#20
David M Straughan, Kaitlin C McLoughlin, John E Mullinax, Beatriz E Marciano, Alexandra F Freeman, Victoria L Anderson, Gulbu Uzel, Sa D C Azoury, Rebecca Sorber, Humair S Quadri, Harry L Malech, Suk See DeRavin, Natasha Kamal, Christopher Koh, Christa S Zerbe, Douglas B Kuhns, John I Gallin, Theo Heller, Steven M Holland, Udo Rudloff
Background: Chronic granulomatous disease (CGD) is a rare genetic disorder causing recurrent infections. Over one quarter of patients develop hepatic abscesses and liver dysfunction. Recent reports suggest disease-modifying treatment with corticosteroids is effective for these abscesses. Comparison of corticosteroid therapy to traditional invasive treatments has not been performed. Methods: Records of 268 patients with CGD treated at the National Institutes of Health (NIH) from 1980 to 2014 were reviewed...
November 14, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
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