As the inflammation research improves year by year, so does our understanding of the autoinflammatory conditions. Over the past years, the number of monogenic autoinflammatory conditions snowballed ...thanks to our understanding of basic immunology and genetics. Familial Mediterranean Fever (FMF), being the entrance to this fascinating world, still has clinical relevance as it enables us to understand our approach to these patients, treatment modalities, and pathological mechanisms. This review can be used as a tool for clinicians already working with FMF patients to update themselves on recent scientific literature.
Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited autoinflammatory disease characterized by systemic inflammation and immunodeficiency. Infliximab proved to be favorable in the ...treatment of this condition. This case report is concerned with a DADA2 deficient patient treated with infliximab. This is a rare case of DADA2 in a 32-year-old female patient. The patient was admitted with a clinical presentation of erythema, ulcers, and pruritus on both legs and ankles, accompanied by red ulcerative oral lesions, fatigue, malaise, and dizziness. The patient's genetic analysis was positive for DADA2. Treatment based on TNF-α inhibition was highly effective for this patient. We used laboratory testing and punch biopsy as differential diagnostic tools, where antinuclear antibody positivity, high prolactin levels, and high serum C-reactive protein were observed. The punch biopsy revealed both orthohyperkeratosis and parahyperkeratosis of the dermis, diffuse core fragments, plasma in the stratum corneum, and hypergranulous acanthosis. DADA2 treatment is centered on tumor necrosis factor α suppression. Although high-dose systemic glucocorticoids can reduce inflammation in the initial stages of the disease, most patients have a resistant or relapsing response to tapering attempts. The prevalence of undiagnosed cases of autoinflammatory diseases is anticipated to diminish with the growing awareness of them.
Behçet Syndrome: Is It One Condition? Yazici, H.; Ugurlu, S.; Seyahi, E.
Clinical reviews in allergy & immunology,
12/2012, Letnik:
43, Številka:
3
Journal Article
Recenzirano
Behçet's syndrome (BS) is a disease of unknown etiology, and as such, there have been efforts to classify BS within the popular nosological identities of the times such as seronegative ...spondarthritides, autoimmune, and more recently autoinflammatory diseases. Current evidence suggests that BS does not easily fit into any one of these lumps, while on occasion, it might be impossible to tell BS from Crohn's disease, especially when the main clinical presentation is intestinal ulceration. There are distinct regional differences in disease expression of BS with fewer cases of intestinal disease in the Mediterranean basin and less severe eye disease and less frequent skin pathergy among patients reported from northern Europe or America. The clustering of symptoms, especially with the recently described increased frequency of the acne/arthritis cluster in familial cases, suggests that more than one pathological pathway is involved in what we call BS today. Supportive evidence for this contention also comes from the observations that (a) the genetic component is very complex with perhaps different genetic modes of inheritance in the adult and in the pediatric patients; and (b) there are differing organ responses to one same drug. For example, the anti-TNF agents successfully control the oral ulcers while they have no effect on the pathergy reaction.
Systemic sclerosis (SSc) represents extremely rare disease with majority of data coming from adults. Studies comparing juvenile- (jSSc) and adult-onset (aSSc) patients are limited. We aimed to ...compare clinical features, treatment modalities and survival rates of jSSc and aSSc patients.
A retrospective study among pediatric and adult Scl patients has been performed. Demographic characteristics, clinical features, autoantibody profiles, and treatment data were retrieved from the databases. Survival analysis was done using Kaplan-Meier plot and factors associated with mortality were identified with multiple regression analysis.
A total of 158 adults and 58 juvenile Scl patients were identified. The mean age at the disease onset was 37±14.7 vs. 8.8 ± 4.1 years, mean age at diagnosis 42±15.2 vs. 10.4 ± 3.8 years and mean follow-up duration was 6.3 ± 4.9 years vs. 6.6 ± 4.9 years for aSSc and jSSc patients, respectively. The frequency of interstitial lung disease (ILD) (50.9% vs 30%, p<0.001) and systemic hypertension (17.9% vs 0, p = 0.009) was significantly higher among aSSc. While aSSc patients had presented mostly with limited cutaneous subset (74.1%), diffuse cutaneous subset was the dominant subset among jSSc (76.7%), (p<0.001). The mortality rate was significantly higher among adults (p = 0.005). The ILD (p = 0.03) and cardiac insufficiency (p = 0.05) were independent risk factors of mortality in both aSSc and jSSc patients.
Juvenile and adult-onset Scl represent rarely seen conditions with different clinical phenotypes. Pediatric patients with LS are more commonly seen by pediatric rheumatologists, in contrary to adults. Diffuse disease subset is the dominant form among juvenile patients, whereas limited form is the main disease subset among adults. On the other hand, juvenile-onset patients have a better survival than those with adult-onset.
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PurposeTo compare quality of life (QoL) in patients with primary open-angle glaucoma (POAG) and dry-type age-related macular degeneration (AMD) with similar best-corrected visual acuity.MethodsAge-, ...sex-, and visual acuity-matched POAG and dry AMD patients were included in the study. Each patient performed 24-2 and 10-2 SITA standard visual field tests. Contrast sensitivity was evaluated with CSV-1000 HGT instrument. The 25 item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) was used to analyze QoL. Overall and subscale scores were converted to scores between 0 and 100, the higher scores indicating better vision-related QoL.ResultsOverall NEI-VFQ-25 scores were 86.44 and 84.66 in glaucoma and AMD groups, respectively (P=0.244). The highest scores were obtained in 'vision-related dependency' subgroup in glaucoma and 'color and peripheral vision' in AMD group, whereas the lowest scores were noted 'in peripheral vision' in both glaucoma and AMD patients. Glaucoma patients had significantly lower scores in ocular pain, color vision, and peripheral vision subgroups compared with the AMD group, whereas AMD patients had lower scores in near and distance vision activities, vision-related social activity, and dependency subgroups. Contrast sensitivity results and mean defect values showed correlation with NEI-VFQ-25 scores in both groups.ConclusionsGlaucoma and AMD patients with similar visual acuity experienced similar overall impairment in QoL. However, glaucoma patients described more difficulty with peripheral vision and ocular pain, whereas AMD patients complained more about near and distance vision and dependency items.
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