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Organ Involvement (organ + involvement)
Kinds of Organ Involvement Selected AbstractsRisk-adapted autologous stem cell transplantation with adjuvant dexamethasone ± thalidomide for systemic light-chain amyloidosis: results of a phase II trialBRITISH JOURNAL OF HAEMATOLOGY, Issue 2 2007Adam D. Cohen Summary High-dose melphalan (MEL) with autologous stem cell transplant (SCT) is an effective therapy for systemic AL amyloidosis (AL), but treatment-related mortality (TRM) has historically been high. We performed a phase II trial of risk-adapted SCT followed by adjuvant dexamethasone (dex) and thalidomide (thal) in an attempt to reduce TRM and improve response rates. Patients (n = 45) with newly diagnosed AL involving ,2 organ systems were assigned to MEL 100, 140, or 200 mg/m2 with SCT, based on age, renal function and cardiac involvement. Patients with persistent clonal plasma cell disease 3 months post-SCT received 9 months of adjuvant thal/dex (or dex if there was a history of deep vein thrombosis or neuropathy). Organ involvement was kidney (67%), heart (24%), liver/GI (22%) and peripheral nervous system (18%), with 31% having two organs involved. TRM was 4·4%. Thirty-one patients began adjuvant therapy, with 16 (52%) completing 9 months of treatment and 13 (42%) achieving an improvement in haematological response. By intention-to-treat, overall haematological response rate was 71% (36% complete response), with 44% having organ responses. With a median follow-up of 31 months, 2-year survival was 84% (95% confidence interval: 73%, 94%). Risk-adapted SCT with adjuvant thal/dex is feasible and results in low TRM and high haematological and organ response rates in AL patients. [source] Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome,HUMAN MUTATION, Issue 1 2008Valeska Frank Abstract Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disorders (ciliopathies). By positional cloning in a distantly related multiplex family, we mapped a novel locus for MKS to a 3-Mb interval on 12q21. Sequencing of the CEP290 gene located in the minimal critical region showed a homozygous 1-bp deletion supposed to lead to loss of function of the encoded centrosomal protein CEP290/nephrocystin-6. CEP290 is thought to be involved in chromosome segregation and localizes to cilia, centrosomes, and the nucleus. Subsequent analysis of another consanguineous multiplex family revealed homozygous haplotypes and the same frameshift mutation. Our findings add to the increasing body of evidence that ciliopathies can cause a broad spectrum of disease phenotypes, and pleiotropic effects of CEP290 mutations range from single organ involvement with isolated Leber congenital amaurosis to Joubert syndrome and lethal early embryonic multisystemic malformations in Meckel-Gruber syndrome. We compiled clinical and genetic data of all patients with CEP290 mutations described so far. No clear-cut genotype,phenotype correlations were apparent as almost all mutations are nonsense, frameshift, or splice-site changes and scattered throughout the gene irrespective of the patients' phenotypes. Conclusively, other factors than the type and location of CEP290 mutations may underlie phenotypic variability. Hum Mutat 29(1), 45,52, 2008. © 2007 Wiley-Liss, Inc. [source] Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome,HUMAN MUTATION, Issue 11 2007Jan D. Marshall Abstract Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated cardiomyopathy (DCM), urological dysfunction, and pulmonary, hepatic, and renal failure. We evaluated a large cohort of patients with Alström syndrome for mutations in the ALMS1 gene. In total, 79 disease-causing variants were identified, of which 55 are novel mutations. The variants are primarily clustered in exons 8, 10, and 16, although we also identified novel mutations in exons 12 and 18. Most alleles were identified only once (45/79), but several were found recurrently. Founder effects are likely in families of English and Turkish descent. We also identified 66 SNPs and assessed the functional significance of these variants based on the conserved identity of the protein and the severity of the resulting amino acid substitution. A genotype,phenotype association study examining 18 phenotypic parameters in a subset of 58 patients found suggestive associations between disease-causing variants in exon 16 and the onset of retinal degeneration before the age of 1 year (P = 0.02), the occurrence of urological dysfunction (P = 0.02), of DCM (P = 0.03), and of diabetes (P = 0.03). A significant association was found between alterations in exon 8 and absent, mild, or delayed renal disease (P = 0.0007). This data may have implications for the understanding of the molecular mechanisms of ALMS1 and provides the basis for further investigation of how alternative splicing of ALMS1 contributes to the severity of the disease. Hum Mutat 28(11),1114,1123, 2007. Published 2007 Wiley-Liss, Inc. [source] Hereditary benign telangiectasia: first case in IranINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 7 2006Zari Javidi A 14-year-old boy was referred to the Dermatology Clinic of the Medical University of Mashhad, Iran, with numerous cutaneous telangiectasias on the face, ears, lips, and back of the hands, with lesions in the temporal region being the first to appear (Figs 1,3). His mother stated that the lesions had been present for 10 years with an increase in the past 6 months. He had no history of bleeding from the nose, mouth, gastrointestinal tract, and other mucosal surfaces, and there was no sign of organ involvement. On inspection, no lesions were detected on the nasal mucosa, external ear, over the tympanic membrane, or mouth. Figure 1. Numerous telangiectasias affecting the cheeks, nose, and perioral areas Figure 2. Lateral view of Fig. 1 Figure 3. Telangiectasias affecting the dorsal aspect of the hands The patient is one member of a family of six. His mother is healthy, but similar lesions were seen in his father, sister and one of his brothers with similar distributions. Lesions were also seen in his aunt and paternal grandmother, showing disease distribution in six members of this family from three generations. The oldest brother is 20 years of age and mentioned the onset of disease from the age of 10 years. The sister is 18 years of age and lesions started to appear 7 years ago; she claims that the lesions regress during her menstrual period. The youngest brother is 4 years of age and shows no sign of cutaneous lesions as yet. The parents are not consanguineous. Generalized telangiectasia with a predominant distribution on light-exposed skin, an autosomal dominant inheritance, and no sign of systemic or mucosal involvement and bleeding disorders indicates a diagnosis of hereditary benign telangiectasia. Our patient did not consent to biopsy. [source] Lipoid proteinosis in two brothers with multiple organ involvement from Saudi ArabiaINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 5 2004(Derma), (Immuno), Yasser Al-Bitar MBBS No abstract is available for this article. [source] Unifocal Langerhans cell histiocytosis of the oral mucosaJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, Issue 7 2009Susanna Fistarol Summary A 24-year-old man was admitted for a painful gingival ulcer. Histology and immunohistochemistry of a lesional biopsy revealed the diagnosis of Langerhans cell histiocytosis (LCH). To rule out multifocal disease, a complete staging was performed. There was no evidence of bony lesions or any other organ involvement. The diagnosis of LCH restricted to the oral mucosa was established. The complete oral lesion was ablated by CO2 laser and subsequently treated topically with triamcinolone acetonide. The patient is still in remission after one year of follow-up. LCH confined to the oral mucosa is rare. It presents usually as an inflammatory or ulcerative lesion, easily leading to misinterpretation and delayed diagnosis. Patients with limited unifocal mucocutaneous disease, as in the present case, usually have an excellent prognosis. However, the oral lesion may represent an early sign of LCH, predating and progressing to an aggressive life-threatening multiorgan disease. [source] The natural course of cutaneous melanomaJOURNAL OF SURGICAL ONCOLOGY, Issue 4 2004Ulrike Leiter MD Abstract The natural course of cutaneous melanoma (CM) is determined by its metastatic spread and depends on tumor thickness, ulceration, gender, localization, and the histologic subtype of the primary tumor. CM metastasis develops via three main metastatic pathways and occurs as satellite or in-transit metastasis, as regional lymph node metastasis or as distant metastasis at the time of primary recurrence. About 50% of all CM patients with tumor progression firstly develop regional lymph node metastases. In the other 50% the first metastases are satellite or in-transit metastases (about 20%), or immediately distant metastases (about 30%). Development of distant metastasis appears to be an early event in metastatic spread and may in the majority of cases originate from the primary tumor, only few cases may develop secondarily to locoregional metastasis. Reporting of organ involvement in distant metastasis greatly differs between the results of imaging techniques and autopsy results in respect to the metastatic patterns detected, pointing out that there is a need of improved imaging systems. Proliferation, neovascularization, lymphangiogenesis, invasion, circulation, and embolism are important steps in the pathogenesis of CM metastasis, with tumor vascularity as an important independent significant prognostic factor. The expression of chemokine receptors in cancer cells associated with the expression of the respective chemokine receptor ligands in the target sites of the metastasis is an interesting observation which may stimulate the development of new therapeutic strategies. J. Surg. Oncol. 2004;86:172,178. © 2004 Wiley-Liss, Inc. [source] Clinicopathologic Features and Outcome Predictors of Leptospira interrogans Australis Serogroup Infection in Dogs: A Retrospective Study of 20 Cases (2001,2004)JOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 1 2007Cinzia Mastrorilli Background and Hypothesis: We retrospectively evaluated the Clinicopathologic findings and outcome predictors in dogs with Leptospira interrogans Australis serogroup infections. Animals and Methods: The medical records of 159 dogs that had a leptospiral microscopic agglutination test (MAT) performed between 2001 and 2004 were reviewed. Results: Twenty dogs met serologic criteria for either symptomatic (16 dogs) or asymptomatic (4 dogs) infection caused by Leptospira interrogans Australis serogroup. Seven of 16 symptomatic dogs died or were euthanized and 9/16 recovered. Systemic inflammatory response syndrome (SIRS) was observed in 9/16 dogs. The presence of SIRS did not affect prognosis (P= .357). C-reactive protein (CRP) and haptoglobin (Hpt) concentrations were altered in all symptomatic dogs, but results did not differ significantly between survivors and nonsurvivors (P= .08 and P= .055, respectively). Conversely, the CRP to Hpt ratio (CRP/Hpt) was significantly increased in nonsurvivors. Disseminated intravascular coagulation (DIC) was diagnosed in 7/16 dogs. DIC did not significantly affect outcome (P= .126). Multiple organ involvement was present with renal failure in 16/16, liver damage in 12/16, cardiac damage in 11/16, and muscular damage in 8/16 dogs. Conclusions and Clinical Importance: Among the evaluated Clinicopathologic biomarkers, serum albumin, cardiac troponin I, CRP/Hpt, urinary albumin, and urinary total protein to creatinine ratio were found to predict outcome and warrant evaluation in larger prospective studies. [source] Disseminated intravascular large-cell lymphoma with initial presentation mimicking Guillain,Barré syndromeMUSCLE AND NERVE, Issue 1 2010Qin Li Jiang MD Abstract We report a patient with intravascular large B-cell lymphoma who initially presented with acute ascending weakness and sensory changes. Electrodiagnostic testing and cerebral spinal fluid (CSF) studies were initially suggestive of a demyelinating polyneuropathy. Further clinical evaluation and testing were consistent with mononeuropathy multiplex. Autopsy revealed disseminated intravascular large-cell lymphoma. Intravascular large-cell lymphoma should be considered in the differential diagnosis of a rapidly evolving neuropathy associated with other organ involvement. Muscle Nerve, 2010 [source] Disseminated Varicella Infection in a Child Receiving Short-Term Steroids for AsthmaPEDIATRIC DERMATOLOGY, Issue 4 2008CHANG-TENG WU M.D. The clinical presentation was disseminated varicella infection with multiple organ involvement. We confirmed varicella zoster virus using a direct fluorescent antibody test. This report demonstrates the increased risk of complicated varicella associated with the use of corticosteroids, even for a short period of time. [source] Customising an antibody leukocyte capture microarray for systemic lupus erythematosus: Beyond biomarker discoveryPROTEOMICS - CLINICAL APPLICATIONS, Issue 2 2010Joshua W. K. Ho Abstract Systemic lupus erythematosus (SLE) is a complex autoimmune disease that has heterogeneous clinical manifestation with diverse patterns of organ involvement, autoantibody profiles and varying degrees of severity of disease. Research and clinical experience indicate that different subtypes of SLE patients will likely benefit from more tailored treatment regimes, but we currently lack a fast and objective test with high enough sensitivity to enable us to perform such sub-grouping for clinical use. In this article, we review how proteomic technologies could be used as such an objective test. In particular, we extensively review many leukocyte surface markers that are known to have an association with the pathogenesis of SLE, and we discuss how these markers can be used in the further development of a novel SLE-specific antibody leukocyte capture microarray. In addition, we review some bioinformatics challenges and current methods for using the data generated by these cell-capture microarrays in clinical use. In a broader context, we hope our experience in developing a disease specific cell-capture microarray for clinical application can be a guide to other proteomic practitioners who intend to extend their technologies to develop clinical diagnostic and prognostic tests for complex diseases. [source] Sarcoidosis in Singapore: Epidemiology, clinical presentation and ethnic differencesRESPIROLOGY, Issue 3 2007Devanand ANANTHAM Background and objectives: The aim of this study is to better understand the epidemiological and clinical features of patients with sarcoidosis in Singapore and to ascertain if ethnic differences exist. Methods: A review of hospital medical records from June 1998 to May 2004 to identify patients with sarcoidosis. Results: There were 59 patients with sarcoidosis identified (19 Chinese, 29 Asian Indian and 11 Malay). The estimated annual incidence of sarcoidosis in Singapore was 0.56 per 100 000. There was a significant difference between the observed and expected disease frequency in Chinese (32.2% vs 78.7%) and Indians (49.2% vs 6.0%, P < 0.005). A bimodal distribution of age at diagnosis was seen with peaks in the 30,39 years and 50,59 years age groups; 38.9% of cases were over the age of 50. Chinese patients were more likely to be asymptomatic (57.9%, P = 0.015) and less likely to have impaired spirometry (P = 0.013). Pulmonary sarcoid presented largely as stage 0 or stage 1 disease (74.4%). Overall mean spirometry was unimpaired and prognosis was good with 79.2% showing no radiological deterioration. There were no significant differences in organ involvement or treatment between ethnic groups. Conclusion: Sarcoidosis in Singapore is rare and the incidence differs between ethnic groups. Chinese appear to have a lower incidence and a less symptomatic presentation; Indians have a higher incidence and poorer clinical course. [source] Selective priming of peripheral blood eosinophils in patients with idiopathic hypereosinophilic syndrome,APMIS, Issue 11 2006MARIA LAMPINEN The idiopathic hypereosinophilic syndrome (HES) is characterised by blood eosinophilia associated with organ involvement. Elevated numbers of blood neutrophils have been observed during episodes of active HES. However, an increased responsiveness of eosinophils to chemotactic and chemokinetic stimuli may explain the selective eosinophil infiltration of the tissue. We have studied the migratory responses of blood eosinophils and neutrophils from 9 patients with HES and from 13 healthy control subjects. Chemokinetic and chemotactic responses to factors acting on both cell types were analysed by means of a modification of the Boyden chamber technique. We found increased migratory responses of the eosinophils, but not of the neutrophils, from the patients with HES. Increased blood neutrophil counts in three of the patients did not coincide with alterations of the neutrophil migratory responses. Our finding of increased migratory responses of eosinophils from patients with HES towards non-specific chemoattractants suggests selective priming of eosinophils in this disease. Interleukin (IL)-5 has previously been shown to prime eosinophils for migratory responses, and successful anti-IL-5 therapy of patients with HES indicates an important role for this cytokine in the development of hypereosinophilia. [source] High-dose cyclophosphamide versus monthly intravenous cyclophosphamide for systemic lupus erythematosus: A prospective randomized trial,ARTHRITIS & RHEUMATISM, Issue 5 2010Michelle Petri Objective Monthly intravenous (IV) cyclophosphamide for 6 months has been the standard induction regimen for lupus nephritis, followed by a maintenance regimen of quarterly infusions for 2 years. We undertook this study to compare the efficacy and safety of the standard regimen versus a high-dose IV cyclophosphamide regimen. Methods We performed a prospective randomized trial comparing monthly IV cyclophosphamide at 750 mg/m2 body surface area for 6 months followed by quarterly IV cyclophosphamide for 2 years (traditional treatment) against high-dose IV cyclophosphamide (50 mg/kg daily for 4 days) (high-dose treatment). Entry criteria included renal lupus, neurologic lupus, or other organ system involvement with moderate-to-severe activity. Results Fifty-one patients were randomized; 3 withdrew before treatment and 1 committed suicide after 2 months of high-dose treatment. Twenty-two had renal lupus, 14 had neurologic lupus, and 11 had other organ involvement. The outcome measure was the Responder Index for Lupus Erythematosus (complete response, partial response, no change, or worsening). At 6 months (the end of induction), 11 of 21 patients (52%) in the high-dose treatment group had a complete response compared with 9 of 26 patients (35%) in the traditional treatment group (P = 0.13). At the final visit (30 months), 10 of 21 patients (48%) in the high-dose treatment group had a complete response compared with 13 of 20 patients (65%) who continued with traditional treatment (P = 0.13). Six patients crossed over from traditional treatment to high-dose treatment because of lack of response, and 3 of those patients became complete responders. Conclusion There was not strong evidence that monthly IV cyclophosphamide and high-dose IV cyclophosphamide differed in complete or in any (complete or partial) response to induction or maintenance therapy. However, nonresponders to monthly IV cyclophosphamide can sometimes be rescued with high-dose IV cyclophosphamide. [source] B cell depletion with rituximab in patients with diffuse cutaneous systemic sclerosisARTHRITIS & RHEUMATISM, Issue 2 2009Robert Lafyatis Objective To determine the safety of rituximab, to provide preliminary data regarding the potential efficacy of rituximab, and to investigate the effects of rituximab on autoimmunity and fibrosis in patients with diffuse cutaneous systemic sclerosis (dcSSc). Methods Fifteen patients with dcSSc, all of whom experienced their first non,Raynaud's disease,associated disease manifestation within 18 months of trial entry, were recruited to receive 2 intravenous doses of rituximab (1,000 mg), administered 2 weeks apart. Safety, clinical, and exploratory outcomes were evaluated at baseline and at 6 months. The primary outcome was the change in the modified Rodnan skin thickness score (MRSS) at 6 months compared with baseline. Results Adverse events included frequent infusion reactions and rare infections (urinary tract infection and dental abscess occurred in 1 patient each). The mean change in the MRSS between baseline and 6 months was not significant. Results of pulmonary function tests and other measures of major organ involvement were stable. The modest B cell infiltrates that were present in most skin biopsy specimens at baseline were completely depleted at 6 months in most patients. Autoantibody titers showed only modest and variable changes after treatment. Conclusion In this pilot study, treatment with rituximab appeared to be safe and well tolerated among patients with dcSSc. Rituximab treatment resulted in both depletion of circulating B cells and depletion of dermal B cells but had little effect on the levels of SSc-associated autoantibodies. Rituximab treatment did not appear to result in a significant beneficial effect on skin disease. The potential efficacy of rituximab in other organs such as the lung could not be clearly evaluated in this small open-label trial. [source] Relationship between change in skin score and disease outcome in diffuse cutaneous systemic sclerosis: Application of a latent linear trajectory modelARTHRITIS & RHEUMATISM, Issue 7 2007Lynne Shand Objective To explore the relationship between changes in the severity of skin disease and morbidity and mortality in patients with diffuse cutaneous systemic sclerosis (dcSSc). Methods From a large single-center cohort, we identified 225 patients with dcSSc for whom serial clinical information was available from within 24 months of the onset of the first non,Raynaud's phenomenon manifestation of SSc. The end points analyzed included death and heart, lung, kidney, and gastrointestinal tract involvement. Latent linear trajectory modeling (LTM) was applied to identify patients with a similar trajectory of modified Rodnan skin thickness score (MRSS) changes over the first 3 years of followup. Clinical outcomes were compared between 3 different LTM subgroups. Results LTM permitted classification of 131 patients (58%) into 1 of 3 subgroups with different skin score trajectories. Survival was lowest in the subgroup of patients who had a high baseline skin score and experienced little improvement during followup (P = 0.003). However, the frequency of clinical end points was similar in the subgroup with the most favorable trajectory (i.e., a low initial MRSS and subsequent improvement) and the subgroup with a high baseline MRSS and no improvement. Interestingly, the end point frequency was greatest in the subgroup with a high initial MRSS and subsequent improvement, suggesting that sustained severe skin disease does not necessarily predict the number of visceral complications, and that the relationship between the skin score and internal organ involvement in dcSSc is more complex than previously thought. Conclusion Although mortality was highest among patients with the worst skin-related outcomes, no simple relationship between burden of disease and change in skin score was observed. [source] Anti-La/SSB antibodies transported across the placenta bind apoptotic cells in fetal organs targeted in neonatal lupusARTHRITIS & RHEUMATISM, Issue 6 2002Hai B. Tran Objective To determine whether La and/or Ro epitopes on apoptotic cells in fetal organs that are targeted in neonatal lupus syndrome (NLS) are accessible for binding by autoantibodies in vivo, we traced the fate of transplacental autoantibodies in a murine passive transfer model. Methods Pregnant mice at day 15 of gestation (E15) were injected intraperitoneally with human anti-Ro/La,positive sera or control sera, and transplacental transfer of human autoantibodies was tested by enzyme-linked immunosorbent assay with recombinant antigens. Multiple cryostat sections at the level of the heart of E17 fetuses were visualized simultaneously for human IgG binding and apoptosis (TUNEL) under confocal microscopy. Serial paraffin sections of E17 and E19 fetuses were examined for histologic evidence of inflammation. Results Human IgG anti,52-kd Ro, anti,60-kd Ro, and anti-La autoantibodies were transported efficiently into the fetal circulation. Human IgG,apoptotic cell complexes were detected in the heart (atrial trabeculae and atrioventricular node), skin, liver, and newly forming bone of fetuses from mothers injected with anti-Ro/La sera but not control sera. The IgG binding was fetal-specific and organ-specific; transplacental autoantibodies did not bind to apoptotic cells in the fetal thymus, lung, brain, or gut. The complexes were not associated with an inflammatory reaction. Injection of mothers with affinity-purified anti-La autoantibodies (but not anti-Ro/La Ig depleted of anti-La) revealed an identical location of IgG binding to apoptotic cells in the fetuses. Conclusion This is the first study to demonstrate that transplacental anti-La autoantibodies bind specifically to apoptotic cells in selected fetal organs in vivo, similar to the organ involvement in NLS. We hypothesize that additional factors are required to promote proinflammatory clearance of IgG,apoptotic cell complexes and subsequent tissue damage. [source] Clinical and pathological evaluation of patients with early and late recurrence of colorectal cancerASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, Issue 1 2010Mahdi AGHILI Abstract Aim: To compare the characteristics of primary cancer between patients with early recurrence and those with late recurrence of colorectal cancer. Methods: Overall 535 patients with primary colorectal cancer were reviewed and of these 130 patients with demonstrated recurrence were evaluated. Of the 130 patients, 91 had early recurrence (less than 2 years after surgery) and 39 had late recurrence (2 years or more after surgery). The clinical and pathological characteristics of primary cancer in these two groups were compared. Results: The rate of late recurrence was 30% of total recurrences (39/130). On average, patients with early recurrence were younger than patients with late recurrence (mean age 48 vs 54 years, p = 0.027). Adjacent organ involvement and Dukes stage C was more prevalent in the early recurrence group than in the late group. The liver was the main site of distant recurrence in the early recurrence group (64% of distant recurrences), whereas bone and peritoneum were the most frequent sites of metastases in the late recurrence group (58%). In Dukes C colon cancer patients the disease-free interval was significantly longer in those who received both adjuvant therapies than in those who received either radiotherapy or chemotherapy or neither of them. Conclusion: This study showed that factors such as primary clinical signs, stage of primary tumor, and adjacent organ involvement are significant with respect to the time for recurrence of colorectal cancer. It is important to take these characteristics into account in patient care management after curative resection for colorectal cancer. [source] Isolated symptomatic cutaneous disease in hypereosinophilic syndromeAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2010Veronica Preda ABSTRACT A 41-year-old Phillipino man presented with a 3-year history of a relapsing and remitting generalized chronic pruritic erythematous papular and plaque-like eruption. Investigations showed a persistently elevated eosinophil count. His disease was limited to cutaneous involvement with an absence of demonstrable internal organ involvement, despite extensive investigations and multidisciplinary review. Other causes of eosinophilia were excluded. A diagnosis of idiopathic hypereosinophilic syndrome was made. Our patient's presentation raises a number of issues related to hypereosinophilic syndrome. In particular, relating to managing hypereosinophilic syndrome and the challenge of minimizing therapy side-effects. Our case highlights the considerable morbidity of untreated isolated cutaneous disease, for which he was hospitalized with suicidal ideations. In a minority of reports, skin involvement is the only manifestation of hypereosinophilic syndrome. [source] Epidemiology and pathogenesis of sclerodermaAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2003Keng Chen SUMMARY Scleroderma is a heterogenous connective tissue disorder characterized by fibrosis of the skin, with or without internal organ involvement. The aetiology of scleroderma may involve both environmental and genetic factors. Abnormalities involving the immune system, vascular tissue and extracellular matrix have been demonstrated. Recent research has focused on microchimerism as a risk factor for the development of scleroderma. This article reviews the epidemiology and pathogenesis of this disorder. [source] The first case of cutaneous mucormycosis caused by Rhizopus azygosporusBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2005A. Fujimoto Summary A rapidly enlarging leg ulcer appeared in a 54-year-old woman with systemic lupus erythematosus receiving aggressive immunosuppressive therapy. Skin biopsy revealed proliferation of hyphae in the midst of a neutrophilic abscess. Culture yielded Rhizopus azygosporus. As no organ involvement was detected by thorough examination, the patient was diagnosed as having primary cutaneous mucormycosis. Although intravenous amphotericin B therapy seemed to be very effective, it had to be discontinued due to nephrotoxicity. She unfortunately died of subsequent disseminated fungal infection and cerebral infarction in which the primary cause could not be determined. Minimum inhibitory concentrations of several antifungal drugs to the isolate were examined and amphotericin B proved to be the only agent that may potentially reach the effective plasma concentration. This is the first case report of cutaneous mucormycosis caused by R. azygosporus. [source] Modern therapeutic strategies for paediatric systemic lupus erythematosus and lupus nephritisACTA PAEDIATRICA, Issue 7 2010Stephen D Marks Abstract There is still a significant morbidity and mortality associated with childhood-onset systemic lupus erythematosus (SLE), despite an increasing armamentarium of immunosuppressive agents. The ideal therapeutic strategy for children and adolescents with SLE should provide the right amount of treatment to allow normal growth, development and fertility while reducing the disease activity and damage that can be accrued over the years. Each patient should have individualized treatments tailored to their organ involvement, disease severity and history of flares together with recent clinical, haematological and immunological parameters to avoid further flares of disease activity and side-effects of treatment, especially severe infections and future malignancies. The most commonly cited side-effects of medications include Cushingoid features of corticosteroids, infective complications of cyclophosphamide and gastrointestinal side-effects of mycophenolate mofetil. There is increasing evidence to support the use of oral mycophenolate mofetil as opposed to cyclophosphamide for both induction and maintenance therapies in many children with SLE with or without lupus nephritis (LN). Recently, case series utilizing B-lymphocyte depletion therapies with rituximab look promising for patients with severe or refractory disease activity. In this article, we explore current evidence to effectively treat children and adolescents with SLE with or without LN. Conclusion:, Modern therapeutic strategies include reduced doses and use of corticosteroids and intravenous cyclophosphamide respectively, with increased use of azathioprine, MMF and rituximab. [source] Persistent urticaria characterized by recurrent lasting urticarial erythema with histological features of prominent perivascular eosinophilic infiltrationCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 5 2009H. Amano Summary We report a 29-year-old woman with a 15-year history of recurrent pruritic urticarial erythemas. The individual lesions lasted for > 24 h, and antihistaminic agents were not effective. Histological examination of a skin biopsy revealed interstitial oedema of the dermis and perivascular infiltration of numerous eosinophils without vasculitis. No internal organ involvement or peripheral blood eosinophilia was present. A diagnosis of persistent urticaria was made and the patient was successfully treated with oral corticosteroid therapy. Persistent urticaria has been described as an unusual reaction that lasts longer than typical urticaria. It is effectively treated with corticosteroids, but not with antihistaminic agents. In order to choose the most effective treatment, persistent urticaria should be recognized as a different clinical condition from typical urticaria. [source] Prevention of toxoplasmosis in transplant patientsCLINICAL MICROBIOLOGY AND INFECTION, Issue 12 2008F. Derouin Abstract Toxoplasmosis is a life-threatening opportunistic infection that affects haematopoietic stem cell transplant (HSCT) and solid organ transplant (SOT) recipients. Its incidence in these patients is closely related to the prevalence of toxoplasmosis in the general population, which is high in Europe. In SOT recipients, toxoplasmosis results mainly from transmission of the parasite with the transplanted organ from a Toxoplasma -seropositive donor to a Toxoplasma -seronegative recipient. This risk is high in cases of transplantation of organs that are recognized sites of encystation of the parasite, e.g. the heart, and is markedly lower in other SOT recipients. Clinical symptoms usually occur within the first 3 months after transplantation, sometimes as early as 2 weeks post transplant, and involve febrile myocarditis, encephalitis or pneumonitis. In HSCT recipients, the major risk of toxoplasmosis results from the reactivation of a pre-transplant latent infection in seropositive recipients. The median point of disease onset is estimated at 2 months post transplant, with <10% of cases occurring before 30 days and 15,20% later than day 100. Toxoplasmosis usually manifests as encephalitis or pneumonitis, and frequently disseminates with multiple organ involvement. Diagnosis of toxoplasmosis is based on the demonstration of parasites or parasitic DNA in blood, bone marrow, cerebrospinal fluid, bronchoalveolar lavage fluid or biopsy specimens, and serological tests do not often contribute to the diagnosis. For prevention of toxoplasmosis, serological screening of donors and recipients before transplantation allows the identification of patients at higher risk of toxoplasmosis, i.e. seropositive HSCT recipients and mismatched (seropositive donor/seronegative recipients) SOT recipients. Preventing toxoplasmosis disease in those patients presently relies on prophylaxis via prescription of co-trimoxazole. [source] | |||||||||||||||||||||||||