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1.
A case of essential thrombocythemia with a partial deletion of the long arm of chromosome 11, del(11)(q21) as a sole chromosomal anomaly is reported. Rearrangement of chromosome 11 at band 11q21 has been reported in six patients with chronic myeloproliferative disorders: four with post-polycythemic myelofibrosis, one with myelofibrosis with myeloid metaplasia, and one with Ph+ chronic myeloid leukemia in blastic phase. Except for the last patient, all patients had been treated with 32P and/or an alkylating agent prior to cytogenetic examination. This is the first report of the 11q21 abnormality in essential thrombocythemia seen at diagnosis.  相似文献   
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Clinical Rheumatology - Permanent vision loss (PVL) is a feared complication and a leading cause of morbidity in giant cell arteritis (GCA). The objective of this study is to describe visual...  相似文献   
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Background

The long-term efficacy of corticosteroids to prevent atopic dermatitis (AD) relapses has partially been addressed in children. This study compared an intermittent dosing regimen of fluticasone propionate (FP) cream 0.05% with its vehicle base in reducing the risk of relapse in children with stabilized AD.

Methods

A randomized controlled, multicentric, double-blind trial was conducted. Children (2–10 years) with mild/moderate AD (exclusion criteria: >30% affected body surface area and/or head) were enrolled into an Open-label Stabilization Phase (OSP) of up to 2 weeks on twice daily FP. Those who achieved treatment success entered the Double-blind Maintenance Phase (DMP). They were randomly allocated to receive FP or vehicle twice-weekly on consecutive days for 16 weeks. The primary study endpoint was relapse rate; time to relapse and severity of disease were also studied. Kaplan–Meier estimates were calculated.

Results

Fifty-four patients (29 girls) entered the OSP (23 mild AD) and 49 (26 girls) continued into the DMP. Mean age was 5.5 (SD: 2.8) and 5.1 (SD: 2.3) yrs for FP and vehicle groups, respectively. Four patients withdrew from the DMP (two in every group). Patients treated with FP twice weekly had a 2.7 fold lower risk of experiencing a relapse than patients treated with vehicle (relative risk 2.72, SD: 1.28; p = 0.034). FP was also superior to vehicle for delaying time to relapse. Both treatment therapies were well tolerated.

Conclusion

This long-term study shows that twice weekly FP provides an effective maintenance treatment to control the risk of relapse in children with AD.  相似文献   
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Abstract: An 11-year-old girl with a history of Insulin-dependent diabe-tes melitus had erythema elevatum diutinum (EED) associated with a ce-liac disease related to a possible kidney disease. Dapsone did not im-prove the skin manifestations. However, the tesions disappeared after a gluten-free diet was begun. To our knowledge, this report describes the first case of EED In a patient with celiac disease.  相似文献   
6.
Local delivery of imidazolic antifungals is limited by its extreme lipophilicity. Multiple emulsions (ME) are a potential vehicle to enhance the delivery of econazole nitrate (ECN), an antifungal targeted to deep‐seated epidermal yeast infections. An 1% ECN hydrophilic ME was compared with a commercial formulation in terms of rheology, droplet size and in vitro antifungal activity against Candida species. Comparative in vitro drug release, human skin permeation and drug retention were investigated using vertical diffusion cells. Rheology demonstrated a pseudoplastic shear thinning with thixotropy facilitating skin residence. No significant aggregation or droplet size variations were observed during a 6‐month stability storage. Both formulations exhibited similar release levels achieving asymptotic values in 5 h. ECN skin permeation levels from the multiple emulsion resulted to be significantly higher than those of the commercial formulation, attributable to differences in formulation polarity and excipients composition. Conversely, similar drug accumulation levels in skin were obtained (40‐130 ppm). These concentrations resulted to be comparable with obtained MIC values (2‐78 ppm), confirming the in vitro antimicrobial efficacy of both formulations. A similar skin retention and a higher permeation rate over the existing formulations is considered an improved approach to target the drug to deep epidermis.  相似文献   
7.
Abstract: A 27-year-old woman and a 13-year-old girl diagnosed with juvenile dermatomyositis in childhood developed clinical findings of partial lipodystrophy 10 years after diagnosis. Exhaustive clinical and laboratory examinations showed an association with other abnormalities: hy-pertrichosis, steatohepatitis, and an abnormal insulin response to the glucose loading test in the first patient. Hypertrichosis, steatohepatitis, insulin-resistant diabetes mellitus, and acanthosis nigricans were observed in the second patient. Renal function was normal in both patients. Although a localized form of lipodystrophy has been reported associated with connective tissue disease (connective tissue lipoatrophy), the partial form has been infrequently described in association with juvenile dermatomyositis.  相似文献   
8.
Abstract: Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X‐linked‐dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X‐chromosome inactivation pattern (85:15) was observed.  相似文献   
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BackgroundClinical and laboratory evidence increasingly supports the notion that food allergy plays a role in the pathogenesis of atopic dermatitis (AD). However, the prevalence of clinically significant food hypersensitivity among children with AD remains an unanswered question.ObjectiveTo prospectively determine the prevalence of IgE-mediated food hypersensitivity among patients referred to a dermatology department for evaluation of AD, and to analyze the clinical relevance of these sensitizations in AD.MethodsWe studied 44 infants of both sexes, aged less than 12 months old, who attended the dermatology department with symptoms of AD. Compliance with Hanifin-Rajka criteria was confirmed and the severity of AD was evaluated using the SCORAD index. IgE-mediated sensitization to cow's milk, alpha-lactalbumin, beta-lactoglobulin, casein, eggwhite, egg-albumin, ovomucoid and foods introduced into the diet was studied using the skin prick test (SPT) and measurement of specific serum IgE (sIgE) by CAP System fluorescein-enzyme immunoassay.Cow's milk, as well as suspected foods from the clinical history or those with a positive SPT and/or sIgE, were withdrawn from the diet to evaluate improvement in AD, and an open controlled challenge test was carried out.ResultsOf the 44 patients studied, sensitization to foods was detected in 27 (61%). No changes were observed in AD during the elimination diet or when the eliminated foods were subsequently reintroduced into the diet. The results of open controlled food challenges were positive in 12 patients (27 %).ConclusionsA high prevalence of food sensitization was found in infants with AD. The most frequent sensitization observed was to egg, although with little clinical relevance since this food had not been introduced into the diet.In the sample studied, the clinical relevance of the observed food hypersensitivities was confirmed in relation to AD. Further studies are required to confirm these results.  相似文献   
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