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Chronic granulomatous disease

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https://www.readbyqxmd.com/read/28077679/crispr-cas9-gene-repair-of-hematopoietic-stem-cells-from-patients-with-x-linked-chronic-granulomatous-disease
#1
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
#2
Marc A Judson
Most of the morbidity and mortality resulting from pulmonary sarcoidosis relates to complications of fibrotic disease. Because 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...
January 11, 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
#3
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
#4
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
https://www.readbyqxmd.com/read/28050664/rifampicin-for-idiopathic-granulomatous-lobular-mastitis-a-promising-alternative-for-treatment
#5
Omar Farouk, Mohamed Abdelkhalek, Ahmed Abdallah, Ahmed Shata, Ahmed Senbel, Essam Attia, Mohamed Abd Elghaffar, Mahmoud Mesbah, Nermine Soliman, Maha Amin, Dina El-Tantawy
BACKGROUND: Idiopathic granulomatous lobular mastitis (IGLM) is a chronic, non-caseating, inflammatory breast disease of obscure aetiology characterized by multiple masses, abscesses and sinus formation. There is no standard treatment to date, but surgical procedures and systemic corticosteroids are effective in its treatment despite high recurrence rates. PATIENTS AND METHODS: This prospective study including 30 patients with IGLM between November 2012 and May 2016 aimed to investigate the possibility of administration of Rifampicin (300 mg twice daily for a period of 6-9 months) as an alternative therapy for both surgery and corticosteroids in patients with IGLM...
January 3, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28043635/comparative-evaluation-of-diagnostic-tests-for-the-detection-of-mycobacterium-avium-subsp-paratuberculosis-in-the-tissues-of-sheep-affected-with-distinct-pathology-of-paratuberculosis
#6
Ganesh G Sonawane, Bhupendra N Tripathi
AIMS AND OBJECTIVE: Paratuberculosis or Johne's disease is a chronic infectious granulomatous enteritis, mainly of cattle, sheep, goats, and other domestic and wild animals caused by Mycobacterium avium subsp. paratuberculosis (MAP). Currently, MAP has been recognized as an important animal pathogen with significant zoonotic and public health concerns. The early detection of infected animals using suitable diagnostic methods helps in developing control and preventive strategies for the herd...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28043628/expression-of-inflammatory-cytokine-and-inducible-nitric-oxide-synthase-genes-in-the-small-intestine-and-mesenteric-lymph-node-tissues-of-pauci-and-multibacillary-sheep-naturally-infected-with-mycobacterium-avium-ssp-paratuberculosis
#7
Ganesh G Sonawane, Bhupendra Nath Tripathi
OBJECTIVE/BACKGROUND: Paratuberculosis (Johne's disease) is a chronic infectious granulomatous enteritis, primarily affecting ruminants, and caused by Mycobacterium avium ssp. paratuberculosis (MAP). The disease is widely prevalent throughout the world with significant economic losses. MAP has also been implicated with human Crohn's disease. There exists a strong correlation between the immune response and development of various types of pathologies in ruminants. The polarization of the immune response, which is critical to clinical outcome of the paratuberculosis infection, is controlled by the differential expression of certain cytokines and inducible nitric oxide synthase (iNOS) in Johne's disease...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28043554/pathological-bacteriological-and-molecular-characteristics-of-natural-outbreaks-of-johne-s-disease-in-goats-of-fars-province-iran
#8
F Zarei Kordshouli, A Khodakaram Tafti, M Haghkhah
OBJECTIVE/BACKGROUND: Johne's disease, also called paratuberculosis, is a very important chronic infectious disease of ruminants worldwide. The causative agent is an acid-fast bacterium, Mycobacterium avium paratuberculosis (MAP). Finding a precise method for detecting MAP is essential for the control and eradication of this disease in small ruminant herds. METHODS: In this study, appropriate samples were obtained from the ileum, cecum, colon, and mesenteric lymph nodes of 10 suspected naturally infected goats...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28035314/granulomatous-lobular-mastitis-secondary-to-mycobacterium-fortuitum
#9
Armin Kamyab
Granulomatous lobular mastitis is a rare inflammatory disease of the breast of unknown etiology. Most present as breast masses in women of child-bearing age. A 29-year-old female presented with a swollen, firm and tender right breast, initially misdiagnosed as mastitis. Core needle biopsy revealed findings consistent with granulomatous lobular mastitis, and cultures were all negative for an infectious etiology. She was started on steroid therapy to which she initially responded well. A few weeks later she deteriorated and was found to have multiple breast abscesses...
December 16, 2016: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28018447/targeted-busulfan-and-fludarabine-based-conditioning-for-bone-marrow-transplantation-in-chronic-granulomatous-disease
#10
Hee Young Ju, Hyoung Jin Kang, Che Ry Hong, Ji Won Lee, Hyery Kim, Sang Hoon Song, Kyung-Sang Yu, In-Jin Jang, June Dong Park, Kyung Duk Park, Hee Young Shin, Joong-Gon Kim, Hyo Seop Ahn
Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by impaired phagocytic function. Hematopoietic stem cell transplantation (HSCT) is a definitive cure for CGD; however, the use of HSCT is limited because of associated problems, including transplantation-related mortality and engraftment failure. We report a case of a patient with CGD who underwent successful HSCT following a targeted busulfan and fludarabine reduced-toxicity myeloablative conditioning. Intravenous busulfan was administered once daily for 4 consecutive days (days -8 to -5), and the target area under the curve was 75,000 µg·hr/L...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28017630/malar-rash-in-a-child-with-chronic-granulomatous-disease
#11
Pandiarajan Vignesh, Anju Gupta, Sunil Dogra
No abstract text is available yet for this article.
December 22, 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28012873/posner-schlossman-syndrome
#12
REVIEW
Roly Megaw, Pankaj Kumar Agarwal
Posner-Schlossman syndrome (PSS), or glaucomatocyclitic crisis, is a unilateral ocular condition characterized by recurrent attacks of non-granulomatous anterior uveitis and raised intraocular pressure that can result in chronic secondary glaucoma. This relatively rare disease is most likely the result of recurrent cytomegalovirus infection and affects predominantly middle-aged males . Diagnosis is largely clinical, with aqueous and blood sampling aiding the identification of any underlying infectious cause...
December 21, 2016: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28006982/noninfectious-enterocolitis-as-initial-presentation-of-chronic-granulomatous-disease
#13
Sindhu Mohandas, Jennifer Toh, Puneet Arora, William Bivin, Berrin Ustun, David Goldman
No abstract text is available yet for this article.
December 1, 2016: Clinical Pediatrics
https://www.readbyqxmd.com/read/27982447/therapeutic-drug-monitoring-of-posaconazole-oral-suspension-in-paediatric-patients-younger-than-13-years-of-age-a-retrospective-analysis-and-literature-review
#14
T Jancel, P A Shaw, C W Hallahan, T Kim, A F Freeman, S M Holland, S R Penzak
WHAT IS KNOWN AND OBJECTIVE: Posaconazole is an extended-spectrum triazole antifungal with activity against a variety of clinically significant yeasts and moulds. Posaconazole is not currently approved by the U.S. Food and Drug Administration for use in children younger than 13 years of age. Our primary objective was to describe the dosing and observed trough concentrations with posaconazole oral suspension in paediatric patients at the National Institutes of Health Clinical Center (Bethesda, MD)...
February 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/27966195/beyond-bronchitis-a-review-of-the-congenital-and-acquired-abnormalities-of-the-bronchus
#15
REVIEW
Thomas Marini, Susan K Hobbs, Abhishek Chaturvedi, Kathrine Kaproth-Joslin
Anomalies of the bronchus can be both congenital and acquired. Several different congenital aberrations of the bronchial anatomy are commonly encountered including tracheal bronchus, accessory cardiac bronchus, and bronchial agenesis/aplasia/hypoplasia. In addition, Williams-Campbell syndrome and cystic fibrosis are two other congenital conditions that result in bronchial pathology. Acquired pathology affecting the bronchi can typically be divided into three broad categories of bronchial disease: bronchial wall thickening, dilatation/bronchiectasis, and obstruction/stenosis...
December 13, 2016: Insights Into Imaging
https://www.readbyqxmd.com/read/27965320/staphylococcus-aureus-phagocyte-nadph-oxidase-and-chronic-granulomatous-disease
#16
REVIEW
Helene Buvelot, Klara M Posfay-Barbe, Patrick Linder, Jacques Schrenzel, Karl-Heinz Krause
Dysfunction of phagocytes is a relevant risk factor for staphylococcal infection. The most common hereditary phagocyte dysfunction is chronic granulomatous disease (CGD), characterized by impaired generation of reactive oxygen species (ROS) due to loss of function mutations within the phagocyte NADPH oxidase NOX2. Phagocytes ROS generation is fundamental to eliminate pathogens and to regulate the inflammatory response to infection. CGD is characterized by recurrent and severe bacterial and fungal infections, with Staphylococcus aureus as the most frequent pathogen, and skin and lung abscesses as the most common clinical entities...
December 12, 2016: FEMS Microbiology Reviews
https://www.readbyqxmd.com/read/27943029/erratum-to-familial-chronic-granulomatous-disease-affecting-three-siblings-and-causing-recurrent-tuberculosis
#17
Noella Maria Delia Pereira, Ira Shah
No abstract text is available yet for this article.
December 10, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27932349/nadph-oxidase-2-and-atherothrombosis-insight-from-chronic-granulomatous-disease
#18
REVIEW
Francesco Violi, Roberto Carnevale, Lorenzo Loffredo, Pasquale Pignatelli, John I Gallin
The phagocytic cell enzyme NADPH oxidase-2 (Nox2) is critical for killing micro-organisms via production of reactive oxygen species and thus is a key element of the innate immune system. Nox2 is also detectable in endothelial cells and platelets where it has vasoconstrictive and aggregating properties, respectively. Patients with X-linked chronic granulomatous disease with hereditary Nox2 deficiency not only have impaired bacterial killing but, in association with loss of Nox2 function, also have enhanced carotid artery dilation, impaired platelet-related thrombosis, and reduced carotid atherosclerotic burden...
December 8, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27920210/neurosarcoidosis-unusual-presentations-and-considerations-for-diagnosis-and-management
#19
Walid Radwan, Brandon Lucke-Wold, Ibrahim Ahmed Robadi, Kymberly Gyure, Thomas Roberts, Sanjay Bhatia
BACKGROUND: Sarcoidosis is a chronic, multisystem disease characterised by non-necrotising granulomatous inflammation of unknown aetiology. Most commonly, the lungs, lymph nodes, skin and eyes are affected in sarcoidosis; however, nervous system involvement occurs in approximately 5%-15% of cases. Any part of the nervous system can be affected by sarcoidosis. CASES: Herein we describe three unusual patient presentations of neurosarcoidosis, one with optic neuritis, a second with hydrocephalus and a third with cervical myelopathy...
December 5, 2016: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/27917630/a-novel-cybb-mutation-in-chronic-granulomatous-disease-in-iran
#20
Shaghayegh Tajik, Mohsen Badalzadeh, Mohammad Reza Fazlollahi, Massoud Houshmand, Fariborz Zandieh, Shamim Khandan, Zahra Pourpak
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This complex is composed of membrane-bound gp91-phox and p22-phox subunits, and cytosolic subunits consisting of p47-phox, p67-phox, and p40-phox. A mutation in CYBB gene encoding gp91-phox located on chromosome Xp21.1, leads to X-linked CGD. Herein, we report a 4-year-old Iranian boy presented with episodes of recurrent fever, cervical lymphadenopathy, and abdominal abscesses...
October 2016: Iranian Journal of Allergy, Asthma, and Immunology
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