An X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: Report of a Second Family

1993 ◽  
Vol 10 (4) ◽  
pp. 344-351 ◽  
Author(s):  
Lesley C. Adès ◽  
Maureen Rogers ◽  
David O. Sillence
2005 ◽  
Vol 22 (2) ◽  
pp. 122-126 ◽  
Author(s):  
Robert C. Anderson ◽  
Andrew R. Zinn ◽  
June Kim ◽  
K. Robin Carder

2013 ◽  
Vol 161 (6) ◽  
pp. 1414-1420 ◽  
Author(s):  
Lidia Pezzani ◽  
Michela Brena ◽  
Michele Callea ◽  
Marina Colombi ◽  
Gianluca Tadini

Author(s):  
W.L. Steffens ◽  
M.B. Ard ◽  
C.E. Greene ◽  
A. Jaggy

Canine distemper is a multisystemic contagious viral disease having a worldwide distribution, a high mortality rate, and significant central neurologic system (CNS) complications. In its systemic manifestations, it is often presumptively diagnosed on the basis of clinical signs and history. Few definitive antemortem diagnostic tests exist, and most are limited to the detection of viral antigen by immunofluorescence techniques on tissues or cytologic specimens or high immunoglobulin levels in CSF (cerebrospinal fluid). Diagnosis of CNS distemper is often unreliable due to the relatively low cell count in CSF (<50 cells/μl) and the binding of blocking immunoglobulins in CSF to cell surfaces. A more reliable and definitive test might be possible utilizing direct morphologic detection of the etiologic agent. Distemper is the canine equivalent of human measles, in that both involve a closely related member of the Paramyxoviridae, both produce mucosal inflammation, and may produce CNS complications. In humans, diagnosis of measles-induced subacute sclerosing panencephalitis is through negative stain identification of whole or incomplete viral particles in patient CSF.


2011 ◽  
Vol 152 (39) ◽  
pp. 1552-1559 ◽  
Author(s):  
Katalin Dankó ◽  
Melinda Vincze

Inflammatory myopathies are chronic, immune-mediated diseases characterized with progressive proximal muscle weakness. They encompass a variety of syndromes with protean manifestations. The aims of therapy are to increase muscle strength, prevent the development of contractures, and to manage the systemic manifestations of the disease. This is a complex treatment which requires routine and wide knowledge. The most important task is to recognize the disease and guide the patient to immunologic center. Although the first line of therapy continues to include corticosteroids, there are a multitude of agents available for treating patients with myositis. There are several different immunosuppressive agents which may be applied alone or in combination with each other, as well as an increasing number of novel and exciting biologic agents targeting molecules participating in the pathogenesis of inflammatory myopathy. Physiotherapy and rehabilitation in the remission period may significantly improve the functional outcome of patients with these disorders. Orv. Hetil., 2011, 152, 1552–1559.


2020 ◽  
Vol 8 ◽  
pp. 2050313X2091002 ◽  
Author(s):  
Umut Selamet ◽  
Ramy M Hanna ◽  
Anthony Sisk ◽  
Lama Abdelnour ◽  
Lena Ghobry ◽  
...  

Drug-induced lupus erythematosus has features distinct from primary systemic lupus erythematosus. It can occur with a wide variety of agents that result in the generation of anti-histone or other types of antibodies. Systemic manifestations of drug-induced systemic lupus erythematosus may include renal dysfunction due to circulating immune complexes or due to other immune reactions to the culprit medication(s). Acute interstitial nephritis occurs due to DNA–drug or protein–drug complexes that trigger an allergic immune response. We report a patient who developed acute kidney injury, rash, and drug-induced systemic lupus diagnosed by serologies after starting chlorthalidone and amiodarone. A renal biopsy showed acute interstitial nephritis and not lupus-induced glomerulonephritis. It is important to note that systemic lupus erythematosus and acute interstitial nephritis can occur together, and this report highlights the role of the kidney biopsy in ascertaining the pathological diagnosis and outlining therapy in drug-induced lupus erythematosus.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1417.1-1417
Author(s):  
M. Osipyan ◽  
M. Efraimidou ◽  
V. Vardanyan ◽  
K. Ginosyan

Background:Numerous joint disorders initially produce swelling in a single joint and new onset monoartritis will probably further lead to the involvement of other joint groups and development of extraarticular manifestations. It is essential to take a proper diagnostic approach for organizing appropriate treatment and lowering possibility of disease progression.Objectives:The aim of this study was to investigate joint distribution, determine rheumatological diseases of patients with acute monoarthritis and reveal the development of further systemic manifestations.Methods:100 patients (age 18-75 years) with clinically apparent monoarthritis of less than 6 weeks duration were included in the study. Criteria of exclusion were infection, trauma and crystal induced arthritis. Joint distribution, presence of systemic manifestations and development of chronic inflammatory rheumatic disease were evaluated. Presence of arthritis was proved with help of ultrasound examination. Complete blood count, ESR, CRP, RF, anti-CCP; HLAB27; MEFV mutations and X-ray of swollen joint were performed for all patients. Temperature was also measured.Results:Mean age of patients with acute monoarthritis was 46±13 years. Female predominance was noted (61%). 71% of patients had elevated ESR, 69%- CRP. In 24% of cases homozygous or heterozygous mutations of MEFV gene were revealed. 21% of patients had positive RF and 18% - anti-CCP. 11% patients carried HLA-B27 antigen. 28% of examined patients had subfebril fever. Hepatosplenomegaly was determined in 16%, uveitis in 5%, psoriatic plaque in 4%, interstitial pneumonia in 2% of casesAt the baseline 82 patients were diagnosed with rheumatologically disease. Baseline data is shown in the Table 1 bellow.Table 1.Baseline dataDiagnosis Number of patientsFMF23Osteoarthritis (reactive synovitis)16Rheumatoid arthritis15Reactive arthritis10Ankylosing spondylitis6Psoriatic arthritis4SLE3Schonleyn-Henoch purpura2Sarcoidosis2Behcet diseases1Conclusion:In this study monoarhtritis in majority of cases underlies FMF. Though FMF is not considered as a frequent cause of acute monoarthritis, more attention should be paid on this pathology in focus of monoarthritis, especially in specific for FMF region. Further follow up of acute monoarthritis progression is needed.References:[1]A. Becker, J. Daily, K. Pohlgeers. Acute Monoarthritis: Diagnosis in Adults.Am Fam Physician 2016; 94(10): 810-816[2]S. Camacho-Lovillo, A. García-Martínez. Arthritis as presentation of familial Mediterranean fever. An Pediatr (Barc). 2015; 83(2):130. DOI: 10.1016/j.anpede.2015.07.007[3]J. Ellis. Acute monoarthritis. JAAPA. 2019, 32(3):25-31. doi: 0.1097/01.JAA.0000553379.52389.ebDisclosure of Interests:None declared


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