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Chronic granulomatous disease

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https://www.readbyqxmd.com/read/28224222/immunopathological-characterization-of-human-cutaneous-leishmaniasis-lesions-caused-by-leishmania-viannia-spp-in-amazonian-brazil
#1
Cláudia Maria Castro Gomes, Maria Gloria Teixeira Sousa, Joyce Prieto Bezerra Menezes, Marliane Campos Batista, Ana Carolina Stocco Lima, Walter Belda, Daniel Bradshaw, Monica Elinor Alves Gama, Márcia Dalastra Laurenti, Fernando Tobias Silveira, Carlos Eduardo Pereira Corbett
American cutaneous leishmaniasis (ACL) is a chronic infectious disease caused by different protozoan species of Leishmania, and it is endemic in both tropical and subtropical countries. Using immunohistochemistry, we investigate the density of CD68(+), lysozyme(+), CD1a(+), factor XIIIa(+), CD4(+), CD8(+), CD56(+), interferon (IFN)-γ(+), and inducible NO synthase (iNOS(+)) cells. These cells were analyzed from 22 biopsy samples obtained from the lesions of ACL patients, whose infection was caused by Leishmania (Viannia) spp...
February 21, 2017: Parasitology Research
https://www.readbyqxmd.com/read/28218357/prostatic-abscess-in-a-patient-with-chronic-granulomatous-disease-a-multi-disciplinary-intervention
#2
Alberto Martini, Ioannis Katafigiotis, Sofia Kalantzi, Ioannis Anastasiou, Ioannis Adamakis, Aggelos Toskas, Constantinos A Constantinides
INTRODUCTION: Chronic granulomatous disease (CGD) is a rare pathology that increases patients' susceptibility to infections, given the inability to generate oxygen radicals to fight microorganisms.In the context of CGD, primary prostatic involvement has been described only once in the past, in a pediatric patient. CASE REPORT: We report the case of a 35-year old patient with CGD presenting with persistent fever. After hospital admission, blood and urine were sent for culture and antibiotic therapy was initiated...
February 8, 2017: Urologia
https://www.readbyqxmd.com/read/28217469/clinicopathological-diagnosis-of-orofacial-granulomatosis
#3
Fatma Sule Afsar, Hatice Demirlendi Duran, Gungor Yilmaz, Murat Ermete
Orofacial granulomatosis is a rare chronic inflammatory disorder characterized by persistent or recurrent soft tissue swellings, oral ulceration, and other orofacial features in the absence of an identifiable granulomatous disease. We report a case of a 61-year-old woman with recurrent ulcerations and swellings in her oral mucosa. She was diagnosed as orofacial granulomatosis based upon clinicopathological correlation after exclusion of other granulomatous diseases and showed a favorable response to systemic corticosteroid treatment...
January 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28210775/risk-of-fragility-fracture-among-patients-with-sarcoidosis-a-population-based-study-1976-2013
#4
P Ungprasert, C S Crowson, E L Matteson
: Incidence of fragility fracture of a population-based cohort of 345 patients with sarcoidosis was compared with age and sex-matched comparators. The incidence of fragility fracture was higher among patients with sarcoidosis with hazard ratio (HR) of 2.18. INTRODUCTION: Several chronic inflammatory disorders increase the risk of fragility fracture. However, little is known about the risk of fragility fracture in patients with sarcoidosis. METHODS: This study was conducted using a previously identified population-based cohort of 345 patients with incident sarcoidosis from Olmsted County, Minnesota...
February 16, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28203472/cyanoacrylate-associated-foreign-body-granulomatous-gastritis-a-report-of-three-cases
#5
Gunes Guner, Olcay Kurtulan, Taylan Kav, Cenk Sokmensuer, Gokhan Gedikoglu, Aytekin Akyol
Granulomas are rarely seen in gastric biopsies mostly as an involvement of granulomatous diseases like sarcoidosis, Crohn's disease, infections, neoplasms, and vasculitis. Here, we claim cyanoacrylate as a foreign body type granuloma-causing agent in the stomach after vascular embolisation. We present cyanoacrylate associated gastric changes of three cases: two endoscopic biopsies and one gastric resection. In two cases, cyanoacrylate associated ulcers and granulomatous inflammation were observed in gastric mucosal biopsies following endoscopic examination after 7 months and 6 years of the glue injections, respectively...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28168067/necrotizing-liver-granuloma-abscess-and-constrictive-aspergillosis-pericarditis-with-central-nervous-system-involvement-different-remarkable-phenotypes-in-different-chronic-granulomatous-disease-genotypes
#6
Sanem Eren Akarcan, Neslihan Karaca, Guzide Aksu, Halil Bozkaya, Mehmet Fatih Ayik, Yasemin Ozdemir Sahan, Mehmet Arda Kilinc, Zafer Dokumcu, Cenk Eraslan, Emre Divarci, Hudaver Alper, Necil Kutukculer
Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91(phox) protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22(phox) protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement...
2017: Case Reports in Immunology
https://www.readbyqxmd.com/read/28167862/mycetoma-in-a-non-endemic-area-a-diagnostic-challenge
#7
Boubacar Efared, Layla Tahiri, Marou Soumana Boubacar, Gabrielle Atsam-Ebang, Nawal Hammas, El Fatemi Hinde, Laila Chbani
BACKGROUND: Mycetoma is a chronic granulomatous infectious disease caused by filamentous bacteria or by fungi. The disease is endemic in certain tropical and subtropical areas of the world but can be found elsewhere posing sometimes a diagnostic challenge for clinicians. CASE PRESENTATION: A 65-year- old man presented with a right foot swelling evolving for 25 years. During that time, several diagnosis and treatments have been made without any improvement. The disease spread to bones, and misdiagnosed as Kaposi's sarcoma...
2017: BMC Clinical Pathology
https://www.readbyqxmd.com/read/28153086/targeted-repair-of-cybb-in-x-cgd-ipscs-requires-retention-of-intronic-sequences-for-expression-and-functional-correction
#8
Colin L Sweeney, Jizhong Zou, Uimook Choi, Randall K Merling, Alexander Liu, Aaron Bodansky, Sandra Burkett, Jung-Woong Kim, Suk See De Ravin, Harry L Malech
X-linked chronic granulomatous disease (X-CGD) is an immune deficiency resulting from defective production of microbicidal reactive oxygen species (ROS) by phagocytes. Causative mutations occur throughout the CYBB gene, resulting in absent or defective gp91(phox) protein expression. To correct CYBB exon 5 mutations while retaining normal gene regulation, we utilized TALEN or Cas9 for exon 5 replacement in induced pluripotent stem cells (iPSCs) from patients, which restored gp91(phox) expression and ROS production in iPSC-derived granulocytes...
February 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28141637/cervicofacial-primary-cutaneous-actinomycosis-surgical-treatment-for-complete-remission-of-the-disease
#9
Yeon Jin Jeong, Hyo Wan Suh, Hyung-Sup Shim
Actinomycosis, an infectious bacterial disease caused by Actinomyces species, is very rare and is characterized by contiguous spreading, subacute to chronic granulomatous inflammation and the formation of multiple abscesses and sinus tracts that may discharge sulfur granules. Actinomycosis that presents on the skin without endogenous origin is called primary cutaneous actinomycosis, and the occurrence and treatment of primary cutaneous actinomycosis is rarely reported. This report describes the treatment of primary cervicofacial actinomycosis with a literature review, and emphasizes the importance of surgical option for complete remission of the disease...
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28132959/detection-of-mycobacterium-avium-subsp-paratuberculosis-in-kidney-samples-of-red-deer-cervus-elaphus-in-portugal-evaluation-of-different-methods
#10
Ana C Matos, Luis Figueira, Maria H Martins, Manuela Matos, Sofia Álvares, Andreia Mendes, Maria L Pinto, Ana C Coelho
Paratuberculosis or Johne's disease, caused by Mycobacterium avium subsp. paratuberculosis (Map), is a chronic granulomatous enteritis affecting both domestic and wild ruminants. The present work is part of a wider set of studies designed to assess the prevalence of paratuberculosis in free ranging red deer (Cervus elaphus). With that purpose, 877 free-ranging red deer legally hunted in the Centre-eastern Portugal were submitted to necropsy and sampled for molecular methods, microbiology and histopathology...
January 30, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28127443/the-unusual-association-of-inverse-retinitis-pigmentosa-and-fuchs-heterochromic-iridocyclitis
#11
Gian Franco Díez-Cattini, David Arturo Ancona-Lezama, Carlos Valdés-Lara, Virgilio Morales-Cantón
BACKGROUND: Classic retinitis pigmentosa (RP) and other syndromic variants have previously been associated to Fuchs' heterochromic iridocyclitis (FHI). Common immunogenic and inflammatory pathways have been proposed to explain the higher incidence of this uveitic phenomenon in patients with retinal dystrophies without definitive answers. Infrequent variants of RP such as inverse RP have not been previously reported in association with FHI. We believe that finding the way these entities connect can shed some light into their complex pathogenesis and help find ways to foresee and prevent the appearance of complications such as cataract and macular edema...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28125549/o-001-a-diagnostic-approach-of-immune-dysregulation-on-very-early-onset-ibd
#12
Judith Kelsen, Noor Dawany, Maire Conrad, Kathleen Sullivan, Edward Behrens, Marcella Devoto
BACKGROUND: Immune deficiencies have been associated with inflammatory bowel disease (IBD), and are reported to be particularly enriched in patients with very early-onset IBD (VEO-IBD). However, the actual frequency of primary immune deficiencies in an unselected cohort of patients with VEO-IBD is not known, nor is the optimal screening approach for this population. This study was undertaken to identify a diagnostic approach that will enhance identification of children with primary immune deficiencies who present with VEO-IBD...
February 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28115402/surgical-resection-of-a-rare-cutaneous-manifestation-of-scedosporium-apiospermum-in-a-patient-who-underwent-renal-transplant
#13
A C S Stoneham, S E Stoneham, S A Wyllie, A N Pandya
A man aged 47 years who was immunosuppressed following renal transplantation for focal segmental glomerulosclerosis was referred to the Plastic Surgery team for management of a painful, chronic, granulomatous lesion of the right forearm. Serial ultrasound scans and MRI scans were not diagnostic, but microbiological specimens tested positive for the fungus Scedosporium apiospermum The renal transplant graft-which was failing-was removed, allowing him to cease immunosuppression. He then underwent a resection of the lesion and reconstruction with a split thickness skin graft...
January 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28095323/pattern-recognitions-receptors-in-immunodeficiency-disorders
#14
Esameil Mortaz, Ian M Adcock, Payam Tabarsi, Ilad Alavi Darazam, Masoud Movassaghi, Johan Garssen, Hamidreza Jamaati, Aliakbar Velayati
Pattern recognition receptors (PRRs) recognize common microbial or host-derived macromolecules and have important roles in early activation and response of the immune system. Initiation of the innate immune response starts with the recognition of microbial structures called pathogen associated molecular patterns (PAMPs). Recognition of PAMPs is performed by germline-encoded receptors expressed mainly on immune cells termed pattern recognition receptors (PRRs). Several classes of pattern recognition receptors (PRRs) are involved in the pathogenesis of diseases, including Toll-like receptors (TLRs), C-type lectin receptors (CLRs), and Nod-like receptors (NLRs)...
January 14, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28094581/early-immunopathological-events-in-acute-model-of-mycobacterial-hypersensitivity-pneumonitis-in-mice
#15
Elisabet Johansson, Gregory P Boivin, Jagjit S Yadav
Prolonged exposure to antigens of non-tuberculous mycobacteria species colonizing industrial metalworking fluid (MWF), particularly Mycobacterium immunogenum (MI), has been implicated in chronic forms of hypersensitivity pneumonitis (HP) in machinists based on epidemiology studies and long-term exposure of mouse models. However, a role of short-term acute exposure to these antigens has not been described in the context of acute forms of HP. This study investigated short-term acute exposure of mice to MI cell lysate (or live cell suspension) via oropharyngeal aspiration...
December 2017: Journal of Immunotoxicology
https://www.readbyqxmd.com/read/28092373/chronic-signaling-via-the-metabolic-checkpoint-kinase-mtorc1-induces-macrophage-granuloma-formation-and-marks-sarcoidosis-progression
#16
Monika Linke, Ha Thi Thanh Pham, Karl Katholnig, Thomas Schnöller, Anne Miller, Florian Demel, Birgit Schütz, Margit Rosner, Boris Kovacic, Nyamdelger Sukhbaatar, Birgit Niederreiter, Stephan Blüml, Peter Kuess, Veronika Sexl, Mathias Müller, Mario Mikula, Wolfram Weckwerth, Arvand Haschemi, Martin Susani, Markus Hengstschläger, Michael J Gambello, Thomas Weichhart
The aggregation of hypertrophic macrophages constitutes the basis of all granulomatous diseases, such as tuberculosis or sarcoidosis, and is decisive for disease pathogenesis. However, macrophage-intrinsic pathways driving granuloma initiation and maintenance remain elusive. We found that activation of the metabolic checkpoint kinase mTORC1 in macrophages by deletion of the gene encoding tuberous sclerosis 2 (Tsc2) was sufficient to induce hypertrophy and proliferation, resulting in excessive granuloma formation in vivo...
March 2017: Nature Immunology
https://www.readbyqxmd.com/read/28077679/crispr-cas9-gene-repair-of-hematopoietic-stem-cells-from-patients-with-x-linked-chronic-granulomatous-disease
#17
Suk See De Ravin, Linhong Li, Xiaolin Wu, Uimook Choi, Cornell Allen, Sherry Koontz, Janet Lee, Narda Theobald-Whiting, Jessica Chu, Mary Garofalo, Colin Sweeney, Lela Kardava, Susan Moir, Angelia Viley, Pachai Natarajan, Ling Su, Douglas Kuhns, Kol A Zarember, Madhusudan V Peshwa, Harry L Malech
Gene repair of CD34(+) hematopoietic stem and progenitor cells (HSPCs) may avoid problems associated with gene therapy, such as vector-related mutagenesis and dysregulated transgene expression. We used CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9 (CRISPR-associated 9) to repair a mutation in the CYBB gene of CD34(+) HSPCs from patients with the immunodeficiency disorder X-linked chronic granulomatous disease (X-CGD). Sequence-confirmed repair of >20% of HSPCs from X-CGD patients restored the function of NADPH (nicotinamide adenine dinucleotide phosphate) oxidase and superoxide radical production in myeloid cells differentiated from these progenitor cells in vitro...
January 11, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28076979/strategies-for-identifying-pulmonary-sarcoidosis-patients-at-risk-for-severe-or-chronic-disease
#18
Marc A Judson
Most of the morbidity and mortality resulting from pulmonary sarcoidosis relates to complications of fibrotic disease. Because the fibrosis related to pulmonary sarcoidosis is often of minimal clinical importance, pharmacotherapy is not mandated. However, a small fraction of pulmonary sarcoidosis patients develop significant lung fibrosis, and they could potentially benefit from anti-sarcoidosis therapy. A reliable algorithm to determine the likelihood of a pulmonary sarcoidosis patient developing fibrosis would minimize the toxicity of therapy and potentially prevent serious complications of the disease...
February 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28073814/donor-derived-mycosis-fungoides-following-reduced-intensity-haematopoietic-stem-cell-transplantation-from-a-matched-unrelated-donor
#19
Francesca A M Kinsella, Mohammad Rasoul Amel Kashipaz, Julia Scarisbrick, Ram Malladi
A 46-year-old woman with a history of dasatinib-resistant chronic myeloid leukaemia, clonal evolution and monosomy 7 underwent reduced intensity conditioned in vivo T-cell-depleted allogeneic haematopoietic stem cell transplantation (HSCT) from a matched unrelated donor. Following the transplantation, she developed recurrent cutaneous graft versus host disease (GvHD), which required treatment with systemic immunosuppression and electrocorporeal photophoresis. Concurrently, she developed a lichenoid rash with granulomatous features suggestive of cutaneous sarcoidosis...
January 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28070493/rhinosporidiosis-report-of-an-extra-ductal-facial-lesion
#20
Sapna S Nambiar, Suma Radhakrishnan, Anusha Vijayan
Rhinosporidiosis is a chronic granulomatous mucocutaneous disease that is endemic in South Asia. It commonly affects men in the second to fourth decade of life. The most common site of infection is the nose or nasopharynx with primary involvement of the parotid duct noted very rarely; only four cases reported in literature. We report a case of a 77 year old male patient who presented with a subcutaneous cheek swelling with no other clinical features to suggest the diagnosis of rhinosporidiosis. An unusual affliction in a patient in the seventh decade of life, at a site not reported previously with no past history of the same makes it imperative to ascertain the known facts about both the organism and the disease...
2017: IDCases
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