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Chronic granulomatous disease

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https://www.readbyqxmd.com/read/28544854/algorithms-for-imputing-partially-observed-recurrent-events-with-applications-to-multiple-imputation-in-pattern-mixture-models
#1
Yongqiang Tang
Five algorithms are described for imputing partially observed recurrent events modeled by a negative binomial process, or more generally by a mixed Poisson process when the mean function for the recurrent events is continuous over time. We also discuss how to perform the imputation when the mean function of the event process has jump discontinuities. The validity of these algorithms is assessed by simulations. These imputation algorithms are potentially very useful in the implementation of pattern mixture models, which have been popularly used as sensitivity analysis under the non-ignorability assumption in clinical trials...
May 25, 2017: Journal of Biopharmaceutical Statistics
https://www.readbyqxmd.com/read/28544468/analysis-of-the-patients-with-simultaneous-bilateral-spontaneous-pneumothorax
#2
Tevfik Ilker Akcam, Onder Kavurmaci, Ayse Gul Ergonul, Sercan Aydin, Kutsal Turhan, Alpaslan Cakan, Ufuk Cagirici
BACKGROUND: Simultaneous bilateral spontaneous pneumothorax (SBSP) is an uncommon condition with limited data on its incidence in the literature. In this study, we aimed to describe the bilaterality in both primary and secondary spontaneous pneumothorax cases, and the clinical approach in simultaneous disease and prognosis of these patients. METHODS: A total of 16 patients who were followed with the diagnosis of bilateral spontaneous pneumothorax between January 2005 and January 2017 were retrospectively analyzed...
May 20, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28541872/chronic-paracoccidioidmycosis-in-a-woman-with-crohn-disease
#3
Harim Tavares Dos Santos, Bruno Augusto Benevenuto de Andrade, Darcy Fernandes, Daphine Caxias Travassos, Andreia Bufalino
We report a rare case of chronic paracoccidioidomycosis(PCM) in a woman with Crohn disease in the setting of treatment with azathioprine and mesalazine. Serum tests for antigens to Paracoccidioides brasiliensis, Histoplasma capsulatum, and Aspergillus fumigatus were negative. An incisional biopsy of an oral lesion with periodic acid-schiff and Grocott-methenamine silver stains revealed chronic granulomatous inflammation with multinucleated giant cells with Paracoccidioides brasiliensis within the cytoplasm, confirming the diagnosis of PCM...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28532994/johne-s-disease-in-the-eyes-of-irish-cattle-farmers-a-qualitative-narrative-research-approach-to-understanding-implications-for-disease-management
#4
Conor G McAloon, Áine Macken-Walsh, Lisa Moran, Paul Whyte, Simon J More, Luke O'Grady, Michael L Doherty
Bovine Johne's Disease (JD) is a disease characterised by chronic granulomatous enteritis which manifests clinically as a protein-losing enteropathy causing diarrhoea, hypoproteinaemia, emaciation and, eventually death. Some research exists to suggest that the aetiologic pathogen Mycobacterium avium subspecies paratuberculosis may pose a zoonotic risk. Nationally coordinated control programmes have been introduced in many of the major milk producing countries across the world. However, JD is challenging to control in infected herds owing to limitations of diagnostic tests and the long incubation period of the disease...
June 1, 2017: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/28528201/x-linked-carriers-of-chronic-granulomatous-disease-illness-lyonization-and-stability
#5
Beatriz E Marciano, Christa S Zerbe, E Liana Falcone, Li Ding, Suk See DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, Sally Hunsberger, Ladan Foruraghi, Lisa A Barnhart, Kabir Matharu, Victoria Anderson, Dirk N Darnell, Cathleen Frein, Danielle L Fink, Karen P Lau, Debra A Long Priel, John I Gallin, Harry L Malech, Gulbu Uzel, Alexandra F Freeman, Douglas B Kuhns, Sergio D Rosenzweig, Steven M Holland
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. OBJECTIVE: To understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation...
May 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28516132/life-threatening-hypercalcemia-during-prodrome-of-pneumocystis-jiroveci-pneumonia-in-an-immunocompetent-infant
#6
Judith Sebestyen VanSickle, Tarak Srivastava, Uri S Alon
Severe hypercalcemia in infants is usually attributed to genetic etiologies and less commonly to acquired ones. An 8-week-old girl presented with failure to thrive, mild respiratory distress, and life-threatening hypercalcemia (23.5 mg/dL). Serum 1,25(OH)2-vitamin D (1,25(OH)2-D) level was elevated and parathyroid hormone undetectable. Evaluation for genetic mutations and malignant etiologies of hypercalcemia was negative. Treatment with intravenous hydration, loop diuretic, and calcitonin failed to correct the hypercalcemia, which was subsequently controlled with bisphosphonate therapy...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28513998/ibd-due-to-pid-inflammatory-bowel-disease-caused-by-primary-immunodeficiencies-clinical-presentations-review-of-literature-and-proposal-of-a-rational-diagnostic-algorithm
#7
REVIEW
Daniel Tegtmeyer, Maximilian Seidl, Patrick Gerner, Ulrich Baumann, Christian Klemann
Inflammatory bowel diseases (IBD) including Crohn's disease (CD) and ulcerative colitis (UC) have a multifactorial pathogenesis with complex interactions between polygenetic predispositions and environmental factors. However, IBD can also be caused by monogenic diseases, such as primary immunodeficiencies (PID). Recently, an increasing number of these altogether rare diseases has been described to present often primarily, or solely as IBD. Early recognition of these conditions enables adaption of therapies and thus directly benefits the course of IBDs...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28508260/sarcoidosis-in-israel-clinical-outcome-status-organ-involvement-and-long-term-follow-up
#8
Natalia Markevitz, Gali Epstein Shochet, Yair Levi, Lilach Israeli-Shani, David Shitrit
PURPOSE: Sarcoidosis is a chronic granulomatous inflammatory disease of unknown etiology with heterogeneous outcomes. This study reviewed the clinical outcome status (COS) and organ involvement of Israeli sarcoidosis patients during a five-year period. Further, we compared our results to the 'World Association of Sarcoidosis and Other Granulomatous Disease' (WASOG) COS and the 'A Case Control Etiologic Study of Sarcoidosis' (ACCESS) instruments in order to evaluate their relevance to the Israeli population...
May 15, 2017: Lung
https://www.readbyqxmd.com/read/28502336/silicone-injection-related-granulomatous-hypercalcemia
#9
Michael L Granda, Liwei E Huang
Cosmetic filler injections are known to cause a number of acute and chronic effects, including local inflammation, nodule formation and granulomatous reaction. The timeline of these events is highly variable, occurring from hours to decades following injection. In few cases, systemic effects have been observed. We report a case of granulomatous disease secondary to illicit silicone injection causing recalcitrant hypercalcemia. Additionally, we review the pathophysiology of inflammation in cosmetic filler injections, the prevailing understanding of hypercalcemia in granulomatous disease and summarize the most effective treatment modalities for this rare condition...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28491812/acremonium-pneumonia-in-an-aids-patient
#10
Negin Niknam, Siddhi Mankame, Lawrence Ha, Pranisha Gautam-Goyal
Acremonium is a saprophytic fungus mostly causing superficial skin, nail, or ocular infections after traumatic inoculation. However, it is being recently recognized as one of the opportunistic infections in immunocompromised patients including neutropenia, malignancies, chronic granulomatous disease (CGD) and transplant recipients. To our knowledge there have been no reported cases of Acremonium infection, related to HIV or AIDS. We present a case of Acremonium pneumonia in a patient with no past medical history who was found to have AIDS...
2017: IDCases
https://www.readbyqxmd.com/read/28471497/haploinsufficiency-of-nadph-oxidase-subunit-ncf2-is-sufficient-to-accelerate-full-blown-lupus-in-nzm-2328-mice
#11
Chaim O Jacob, Ning Yu, Dae-Goon Yoo, Lizet J Perez-Zapata, Emilia Alina Barbu, Mariana J Kaplan, Monica Purmalek, Jeanette T Pingel, Rachel A Idol, Mary C Dinauer
OBJECTIVE: We have previously established that NCF2 (Neutrophil cytosolic factor 2) is a lupus predisposing gene and identified lupus patients with point mutations that are predicted to cause reduced NADPH oxidase activity. This study was undertaken to investigate the relationship between reduced leukocyte NADPH oxidase activity and immune dysregulation associated with SLE. METHODS: We generated NCF2-null mice, in which NADPH oxidase activity is absent, on the non-autoimmune C57BL/6 background and on the NZM...
May 4, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28468217/cervicofacial-primary-cutaneous-actinomycosis-surgical-treatment-for-complete-remission-of-the-disease
#12
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...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28447377/lupus-miliaris-disseminatus-faciei-a-resistant-case-with-response-to-cyclosporine
#13
Kabir Sardana, Shikha Chugh, Rashmi Ranjan, Nita Khurana
Lupus miliaris disseminatus faciei (LMDF) is a chronic, inflammatory dermatosis of unknown etiology, characterized by multiple, monomorphic, symmetrical, reddish-brown papules over forehead, cheeks, and eyelids. Histopathology shows perifollicular epitheloid cell granuloma. Though numerous therapies, ranging from cyclines, macrolides, dapsone tranilast, isotretinoin, steroids, and tacrolimus have been tried, the results are inconsistent, except with systemic steroids. One approach is to administer therapies based on the histological findings and the corresponding mode of action of drugs, thus antibiotics and dapsone are effective in the early inflammatory stage while clofazamine can be used in the granulomatous stage of the disease...
April 26, 2017: Dermatologic Therapy
https://www.readbyqxmd.com/read/28447322/successful-hepatectomy-for-hepatic-abscess-with-chronic-granulomatous-disease-a-case-report
#14
Ryo Muranushi, Makoto Suzuki, Kenichiro Araki, Norio Kubo, Sayaka Otake, Yutaka Nishida, Takashi Ishige, Hirokazu Arakawa, Hiroyuki Kuwano, Ken Shirabe
BACKGROUND: Chronic granulomatous disease (CGD), a rare inherited disorder, is characterized by impaired ability of phagocytic cells to kill certain bacteria and fungi. Although liver abscess is a common manifestation of CGD, its optimal management in these patients is unknown. Here, we present a case of successful hepatectomy for hepatic abscess in a patient with CGD. CASE PRESENTATION: An adolescent patient with previously diagnosed CGD presented to the pediatrics department of our institution with fever...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28438285/fungal-rhinosinusitis-a-radiological-review-with-intraoperative-correlation
#15
REVIEW
Elaine Ni Mhurchu, Javier Ospina, Arif S Janjua, Jason R Shewchuk, Alexandra T Vertinsky
The interaction between fungi and the sinonasal tract results in a range of clinical presentations with a broad spectrum of clinical severity. The most commonly accepted classification system divides fungal rhinosinusitis into invasive and noninvasive subtypes based on histopathological evidence of tissue invasion by fungi. Invasive fungal rhinosinusitis is subdivided into acute invasive and chronic invasive categories. The chronic invasive category includes a subcategory of chronic granulomatous disease. Noninvasive fungal disease includes localized fungal colonization, fungal ball, and allergic fungal rhinosinusitis...
May 2017: Canadian Association of Radiologists Journal, Journal L'Association Canadienne des Radiologistes
https://www.readbyqxmd.com/read/28412807/-clinical-features-risk-factors-and-progresses-on-treatment-of-recurrent-vogt-koyanagi-harada-disease
#16
S S Jia, C Zhao, X S Liu, M F Zhang
Vogt-Koyanagi-Harada disease(VKH) is a bilateral, granulomatous panuveitis associated with central nervous system, auditory, and integumentary manifestations. Clinically, VKH usually responds well to early aggressive glucocorticosteroid treatment and may be cured without any clinically significant sequelae. Some patients, however, may enter the chronic recurrent phase, which may result in marked loss of vision due to complications such as complicated cataract, secondary glaucoma and maculopathy. Recurrent VKH is mainly characterized by anterior uveitis associated with thickening of the choroid...
April 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28411688/anti-inflammatory-and-membrane-stabilizing-properties-of-methyl-jasmonate-in-rats
#17
Solomon Umukoro, Akinyinka Oladipo Alabi, Anthony Taghogho Eduviere, Abayomi Mayowa Ajayi, Oluwafemi Gabriel Oluwole
The present investigation was carried out to evaluate anti-inflammatory and membrane stabilizing properties of methyl jasmonate (MJ) in experimental rat models of acute and chronic inflammation. The effects of MJ on acute inflammation were assessed using carrageenan-induced rat's paw edema model. The granuloma air pouch model was employed to evaluate the effects of MJ on chronic inflammation produced by carrageenan in rats. The number of white blood cells (WBC) in pouch exudates was estimated using light microscopy...
March 2017: Chinese Journal of Natural Medicines
https://www.readbyqxmd.com/read/28404683/brain-eating-amoebae-predilection-sites-in-the-brain-and-disease-outcome
#18
Timothy Yu Yee Ong, Naveed Ahmed Khan, Ruqaiyyah Siddiqui
Acanthamoeba spp. and Balamuthia mandrillaris are causative agents of granulomatous amoebic encephalitis (GAE), while Naegleria fowleri causes primary amoebic meningoencephalitis (PAM). PAM is an acute infection lasting few days, while GAE is a chronic to subacute infection that can last up to several months. Here, we present a literature review of 86 case reports from 1968 to 2016 in order to explore affinity of these amoebae towards particular sites of the brain, diagnostic modalities, treatment options and the disease outcome in a comparative manner...
April 12, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28404538/haematopoietic-stem-cell-transplantation-in-primary-immunodeficiency-patients-in-the-black-sea-region-of-turkey
#19
Alişan Yıldıran, Mehmet Halil Çeliksoy, Stephan Borte, Şükrü Nail Güner, Murat Elli, Tunç Fışgın, Emel Özyürek, Recep Sancak, Gönül Oğur
OBJECTIVE: Haematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. MATERIALS AND METHODS: We retrospectively reviewed paediatric cases that were diagnosed with primary immunodeficiencies and scheduled for haematopoietic stem cell transplantation. RESULTS: We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received haematopoietic stem cell transplantation...
April 13, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28394239/management-of-uveitis-and-scleritis-in-necrobiotic-xanthogranuloma
#20
John A Gonzales, Anna Haemel, Andrew J Gross, Nisha R Acharya
Necrobiotic xanthogranuloma (NXG) is a chronic, progressive non-Langerhans histiocytic granulomatous disease. While case reports describing periorbital involvement of NXG are frequent, only a few case reports describing ocular involvement, such as scleritis and uveitis, exist. Herein, we present a case presenting initially as bilateral anterior and posterior scleritis, as well as a chronic bilateral granulomatous panuveitis, and discuss the immunosuppressant options that should be considered for this disease with protean manifestations...
May 2017: Journal of Ocular Pharmacology and Therapeutics
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