keyword
MENU ▼
Read by QxMD icon Read
search

Chronic granulomatous disorder

keyword
https://www.readbyqxmd.com/read/28217469/clinicopathological-diagnosis-of-orofacial-granulomatosis
#1
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
#2
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/28196424/pyogenic-granuloma-in-the-jejunum-successfully-removed-by-single-balloon-enteroscopy
#3
Cristina Romero Mascarell, Juan Carlos García Pagán, Isis Karina Araujo, Josep Llach, Begoña González-Suárez
Pyogenic granuloma is a non-infectious and non-granulomatous lesion. Its location in the small bowel is very rare. We present a 46 year-old woman with a chronic liver disorder that had a severe chronic anemia with occult blood losses. Upper endoscopy and colonoscopy were normal. A small bowel capsule endoscopy showed a pyogenic granuloma in jejunum that was resected endoscopically with single balloon enteroscopy with no major complications. The patient recovered from anemia and six months latter capsule endoscopy did not show lesions...
February 15, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28095323/pattern-recognitions-receptors-in-immunodeficiency-disorders
#4
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/28077679/crispr-cas9-gene-repair-of-hematopoietic-stem-cells-from-patients-with-x-linked-chronic-granulomatous-disease
#5
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/27966195/beyond-bronchitis-a-review-of-the-congenital-and-acquired-abnormalities-of-the-bronchus
#6
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...
February 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/27917630/a-novel-cybb-mutation-in-chronic-granulomatous-disease-in-iran
#7
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
https://www.readbyqxmd.com/read/27913461/primary-immune-deficiencies-with-defects-in-neutrophil-function
#8
Mary C Dinauer
Immune deficiencies resulting from inherited defects in neutrophil function have revealed important features of the innate immune response. Although sharing an increased susceptibility to bacterial and fungal infections, these disorders each have distinctive features in their clinical manifestations and characteristic microbial pathogens. This review provides an update on several genetic disorders with impaired neutrophil function, their pathogenesis, and treatment strategies. These include chronic granulomatous disease, which results from inactivating mutations in the superoxide-generating nicotinamide dinucleotide phosphate oxidase...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27889190/diagnosis-of-multiple-sclerosis-progress-and-challenges
#9
REVIEW
Wallace J Brownlee, Todd A Hardy, Franz Fazekas, David H Miller
The diagnosis of multiple sclerosis is based on neurological symptoms and signs, alongside evidence of dissemination of CNS lesions in space and time. MRI is often sufficient to confirm the diagnosis when characteristic lesions accompany a typical clinical syndrome, but in some patients, further supportive information is obtained from cerebrospinal fluid examination and neurophysiological testing. Differentiation is important from other diseases in which demyelination is a feature (eg, neuromyelitis optica spectrum disorder and acute disseminated encephalomyelitis) and from non-demyelinating disorders such as chronic small vessel disease and other inflammatory, granulomatous, infective, metabolic, and genetic causes that can mimic multiple sclerosis...
November 23, 2016: Lancet
https://www.readbyqxmd.com/read/27865245/adolescent-with-recurrent-tuberculosis-can-it-be-chronic-granulomatous-disease
#10
Yashashree Gupta, Ira Shah
Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder with recurrent bacterial and fungal infections like Staphylococcus aureus, Nocardia spp, Serratia marcescens, Burkholderia cepacia, Salmonella spp. and Aspergillus species. We present a 13-year-old male child who had 3 episodes of tuberculosis (TB) at 5 years, 8 years and 13 years of age, respectively, with no other intercurrent infections and who was diagnosed as CGD at the age of 13 years. This case highlights the possibility of phenotypic variations of CGD...
July 2016: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/27830291/-cutaneous-involvement-in-chronic-inflammatory-bowel-disease-crohn-s-disease-and-ulcerative-colitis
#11
REVIEW
L Richter, K Rappersberger
BACKGROUND: Over recent decades, both the incidence and prevalence of chronic inflammatory bowel disease have continued to rise in industrialized countries; the disease is frequently associated with extracutaneous involvement and comorbidity. OBJECTIVES: The purpose of this work was to investigate the frequency and specificity of mucocutaneous manifestations in Crohn's disease (CD) and ulcerative colitis (UC). MATERIALS AND METHODS: An extensive search in peer-reviewed journals via PubMed was performed; presented is a summary and analysis of various studies and data, including data of patients treated at our department...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27785664/genetic-phagocyte-nadph-oxidase-deficiency-enhances-nonviable-candida-albicans-induced-inflammation-in-mouse-lungs
#12
Daiki Endo, Kenta Fujimoto, Rika Hirose, Hiroko Yamanaka, Mizuki Homme, Ken-Ichi Ishibashi, Noriko Miura, Naohito Ohno, Yasuaki Aratani
Patients with chronic granulomatous disease (CGD) have mutated phagocyte NADPH oxidase, resulting in reduced production of reactive oxygen species (ROS). While the mechanism underlying hyperinfection in CGD is well understood, the basis for inflammatory disorders that arise in the absence of evident infection has not been fully explained. This study aimed to evaluate the effect of phagocyte NADPH oxidase deficiency on lung inflammation induced by nonviable Candida albicans (nCA). Mice deficient in this enzyme (CGD mice) showed more severe neutrophilic pneumonia than nCA-treated wild-type mice, which exhibited significantly higher lung concentrations of interleukin (IL)-1β, tumor necrosis factor (TNF)-α, and keratinocyte-derived chemokine (KC)...
October 26, 2016: Inflammation
https://www.readbyqxmd.com/read/27758994/causes-of-death-in-patients-with-chronic-sarcoidosis
#13
Xiaowen Hu, Eva M Carmona, Eunhee S Yi, Patricia A Pellikka, Jay Ryu
INTRODUCTION: Sarcoidosis is a multi-system, granulomatous disorder of unknown etiology that is associated with a variable prognosis and sometimes results in death. There are conflicting reports regarding the causes of death in patients with sarcoidosis. METHODS: Forty-four consecutive patients with sarcoidosis who underwent an autopsy (35 patients) or died at Mayo Clinic (Rochester, MN, USA) over a 20-yr period, from January 1, 1994 to December 31, 2013 were analyzed...
October 7, 2016: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
https://www.readbyqxmd.com/read/27699571/clinical-immunological-and-molecular-findings-of-patients-with-p47-phox-defect-chronic-granulomatous-disease-cgd-in-indian-families
#14
Manasi Kulkarni, Mukesh Desai, Maya Gupta, Aparna Dalvi, Prasad Taur, Antony Terrance, Sunil Bhat, Mamta Manglani, Revathi Raj, Ira Shah, Manisha Madkaikar
Chronic granulomatous disease (CGD) is a group of inherited disorder of phagocytes, resulting from mutations in the components of the NADPH oxidase complex. Reduced or absent oxygen radical synthesis seen in these patients leads to impaired killing of intracellular bacteria and fungi. CGD clinically presents with recurrent and life-threatening infections as well as granulomatous inflammatory responses. p47(phox) encoded by the NCF1 gene is the most common autosomal recessive form of CGD which is often clinically milder...
October 3, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27694095/anterior-uveitis-as-the-first-sign-of-human-african-trypanosomiasis-a-case-report
#15
L N Nsiangani, D Kaimbo Wa Kaimbo, M L Kazumba
We report the case of a 13-year-old girl who consulted for blurred vision, pain, and redness in her left eye. Ophthalmologic examination revealed chronic, hypertensive, and non-granulomatous anterior uveitis. The disease course was marked by a reversal of diurnal rhythm, with daytime sleepiness and behavioral disorders. A neuropsychiatric examination suggested human African trypanosomiasis (HAT), or sleeping sickness. The diagnosis was confirmed by the detection of Trypanosoma in the cerebrospinal fluid. The NECT regimen (nifurtimox-eflornithine combination therapy) was administered as medical treatment and resulted in the disappearance of all clinical signs...
August 1, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/27692490/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#16
Leticia Yañez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, Maria Angélica Marinovic
: Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit...
September 27, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27619324/a-variety-of-gene-polymorphisms-associated-with-idiopathic-granulomatous-mastitis
#17
Sebahattin Destek, Vahit Onur Gul, Serkan Ahioglu
Idiopathic granulomatous mastitis (IGM) is a rare and chronic inflammatory disorder. IGM mimics breast cancer regarding its clinical and radiological features. Etiology of IGM remains unclarified. Our patient was 37-year-old and 14 weeks pregnant. There was pain, redness and swelling in the right breast. The mass suggestive of malignancy was detected in sonography. Serum CA 125 and CA 15-3 levels were high. Genetic analysis was performed for the etiology. methylenetetrahydrofolate reductase (MTHFR) C 677 TT, β-fibrinogen-455 G>A, plasminogen activator inhibitor (PAI)-1 5 G/5 G, angiotensin-converting enzyme (ACE) I/D mutation was found...
2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27541278/review-for-diagnostics-of-the-year-multimodal-imaging-in-beh%C3%A3-et-uveitis
#18
Ilknur Tugal-Tutkun, Pınar Cakar Ozdal, Merih Oray, Sumru Onal
Behçet disease is a chronic relapsing multisystem inflammatory disorder. Ocular involvement is characterized by a bilateral recurrent non-granulomatous panuveitis and retinal vasculitis. Posterior segment findings vary during the course of the disease, in parallel with the relapsing and remitting intraocular inflammation. Structural alterations occur with increased disease duration. Fluorescein angiography is the gold standard in revealing the extent and severity as well as the leaky and/or occlusive nature of retinal vasculitis...
February 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/27516029/the-value-of-histopathological-diagnosis-in-the-elderly-patients-with-granulomatous-dermatoses-case-series
#19
Mihail Alexandru Badea, Corneliu Florin Buicu, Anca Ileana Sin, Ovidiu Simion Cotoi, Iudita Maria Badea, Andreea Luciana Chiotoroiu, Silviu Horia Morariu
Granulomatous inflammations are a particular type of chronic septic or aseptic inflammation, in which infectious or non-infectious agents are difficult to eliminate by the immune system. These are type IV hypersensitivity reactions mediated by pre-sensitized T-lymphocytes cells CD4+ and CD8+ lymphocytes. Disorders included in this category are: tuberculosis, leprosy, syphilis, sarcoidosis, type I diabetes, multiple sclerosis, Crohn's disease and rheumatoid arthritis. At cutaneous level, this pattern of granulomatous reaction is characterized by a chronic inflammation with formation of granulomas consisting of a variable number of histiocytes, multinucleated giant cells and lymphocytes...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27514771/amyloidosis-as-a-renal-complication-of-chronic-granulomatous-disease
#20
Sepideh Darougar, Farin Rashid Farokhi, Shaghayegh Tajik, Nooshin Baghaie, Mehrdad Amirmoini, Bahram Bashardoust, Seyed Karen Hashemitari, Seyed Alireza Mahdaviani
Chronic granulomatous disease is a rare primary immunodeficiency disorder, which leads to increased susceptibility to recurrent infections and severe inflammatory manifestations.  There have been reports regarding different aspects of genitourinary involvement in chronic granulomatous disease, some of which are hydronephrosis, granulomatous cystitis, and glomerulonephritis, but among these complications, amyloidosis is rather rare. We report a patient with chronic granulomatous disease that developed amyloidosis later in the course of the disease...
July 2016: Iranian Journal of Kidney Diseases
keyword
keyword
46477
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"