Arterial occlusion in systemic lupus erythematosus: a good prognostic sign?

Arterial occlusion with subsequent amputation of extremities is a rare manifestation of systemic lupus erythematosus (SLE). It may be caused by local arteritis and/or thrombosis. We describe the clinical and laboratory manifestations and treatment administered to six SLE patients who developed peripheral arterial necrosis necessitating amputation of extremities secondary to the arterial occlusion. All patients were female, with ages ranging from 16 to 65 years. Arterial occlusion took place in the initial months of disease (median: 7 months). Only one of five patients tested for antiphospholipid antibodies had these antibodies who also had vasculitis and thrombosis in a histopathological study. Most patients presented a very benign outcome after the amputation of extremities and stayed in remission for several years. The satisfactory outcome of most patients after the vascular phenomenon allows us to consider the possibility that such a complication could be, for unknown reasons, a marker for good prognosis in SLE or, alternatively, that the aggressive therapy administrated for patients with this complication at the beginning of the disease could recover the balance of the immune system, avoiding future relapses.     

Posaconazole treatment of refractory eumycetoma and chromoblastomycosis

Eumycetoma and chromoblastomycosis are chronic, disfiguring fungal infections of the subcutaneous tissue that rarely resolve spontaneously. Most patients do not achieve sustained long-term benefits from available treatments; therefore, new therapeutic options are needed. We evaluated the efficacy of posaconazole, a new extended-spectrum triazole antifungal agent, in 12 patients with eumycetoma or chromoblastomycosis refractory to existing antifungal therapies. Posaconazole 800 mg/d was given in divided doses for a maximum of 34 months. Complete or partial clinical response was considered a success; stable disease or failure was considered a nonsuccess. All 12 patients had proven infections refractory to standard therapy. Clinical success was reported for five of six patients with eumycetoma and five of six patients with chromoblastomycosis. Two patients were reported to have stable disease. As part of a treatment-use extension protocol, two patients with eumycetoma who initially had successful outcome were successfully retreated with posaconazole after a treatment hiatus of > 10 months. Posaconazole was well tolerated during long-term administration (up to 1015 d). Posaconazole therapy resulted in successful outcome in most patients with eumycetoma or chromoblastomycosis refractory to standard therapies, suggesting that posaconazole may be an important treatment option for these diseases.     

Cryptococcal meningitis in a patient with X-linked hyper-IgM1 syndrome

A case is reported of cryptococcal meningitis in a 27-y-old male suffering from X-linked hyper-IgM1 syndrome. This congenital disorder is characterized by multiple infections of the respiratory and gastrointestinal tracts, but also opportunistic infections commonly seen in patients with cell-mediated immunity. His clinical recovery was good but the need for life-long secondary chemoprophylaxis to prevent relapses is unknown.     

Mud bath dermatitis due to cinnamon oil

A case of long-lasting, extensive eczematous and bullous dermatitis affecting exposed areas (arms and legs), beginning within 24 hr after having a mud bath with cinnamon essential oil in a spa, in a 74-year-old woman, is reported. Patch tests with the GEIDC standard battery and the dental battery (including clove essence and eugenol), cinnamon essence and its components were carried out 5 years later. Fragrance mix, cinnamon essence, eugenol, cinnamic alcohol and cinnamic aldehyde yielded a positive result. To our knowledge, this is the first case of cinnamon dermatitis after a mud bath.     

Direct detection of angioinvasive pulmonary aspergillosis in immunosuppressed patients: preliminary results with high-resolution 16-MDCT angiography

OBJECTIVE: The aim of this study was to optimize detection of angioinvasive pulmonary aspergillosis by showing direct vessel involvement at a peripheral level with high-resolution MDCT angiography in patients with antibiotic-resistant fever of unknown origin under immunosuppression. Twelve CT angiographic examinations were prospectively performed in 10 patients with an optimized CT angiography protocol with 16-MDCT after IV administration of contrast agent using care bolus (Siemens Medical Solutions). Axial images and maximum intensity projections were evaluated for vascular occlusion by an experienced radiologist blinded to the clinical histories. Results were correlated with histology and clinical follow-up data including follow-up CT. Fourteen focal pulmonary lesions were detected by CT in eight patients. Eight of 14 lesions were confirmed by histology. In the remaining six lesions, diagnosis was made by clinical and CT follow-up. In nine of nine lesions in which angioinvasive infection was excluded, CT angiography showed patent vessels. In four of five lesions with histologically proven fungal angioinvasion, vascular occlusion was detected on CT angiography. CONCLUSION: High-resolution MDCT angiography has been shown to be a feasible technique to depict directly vessel occlusion in the setting of suspected fungal infections, especially for early diagnosis of angioinvasive pulmonary aspergillosis in immunosuppressed patients.     

Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24

OBJECTIVE: To characterize a complex chromosome rearrangement (CCR) previously detected by G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X,+mar 1+mar2+mar3+mar4 in a patient with primary amenorrhea. DESIGN: Case report. SETTING: University faculty of Medicine and hospital. PATIENT(S): A 36-year-old woman with primary amenorrhea. INTERVENTION(S): Fluorescence in situ hybridization (FISH). MAIN OUTCOME MEASURE(S): Use of commercially available M-FISH probe (24 colors simultaneously) and whole chromosome painting probes for chromosomes 2, 11, 22, and X to characterize the CCR. RESULT(S): The use of conventional and multiple FISH allowed the redefinition of the CCR, showing a cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. The combination of G-banding and FISH data revealed that four chromosomes and seven breakpoints, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicated in this CCR. CONCLUSION(S): This report confirms the importance of a combination of G-banding and FISH (M-FISH and conventional FISH) techniques to characterize the de novo CCR. These techniques also were useful in defining two possible critical chromosome regions, Xp11.21 and Xq24, in which genes of potential interest for a primary amenorrhea could be located.     

PDZ proteins and proximal ion transport

PURPOSE OF REVIEW: PDZ proteins are major structural components of protein assembly. This review covers the implications of these proteins in the regulation of transport systems expressed in renal proximal tubules. RECENT FINDINGS: In the last few years, many reports have highlighted the implication of PDZ proteins in two aspects of proximal tubule physiology, namely the generation and maintenance of epithelial polarity and the formation of regulatory complexes that provide spatial and molecular specificity to the intracellular signalling. SUMMARY: PDZ-mediated interactions are involved in a wide range of cellular functions, from cell division to cell polarity to intracellular signalling. Consistent with this functional spectrum, ablation of PDZ protein genes generates a wide panel of pathological phenotypes, some of which link directly to human syndromes. In proximal tubules, PDZ proteins are thought to play a major role in epithelial polarity and transport regulation.     

Dynamics of long-term colonization of respiratory tract by Haemophilus influenzae in cystic fibrosis patients shows a marked increase in hypermutable strains

The persistence and variability of 188 Haemophilus influenzae isolates in respiratory tract of 30 cystic fibrosis (CF) patients over the course of 7 years was studied. Antibiotic susceptibility testing, DNA fingerprinting, and analysis of outer membrane protein profiles were performed on all isolates. A total of 115 distinct pulsed-field gel electrophoresis profiles were identified. Ninety percent of patients were cocolonized with two or more clones over the studied period. A third of the patients were cross-colonized with one or two H. influenzae strains; 11% of the clones persisted for 3 or more months. Biotype, outer membrane protein profiles, and resistance profiles showed variation along the studied period, even in persisting clones. Four isolates (2.1%) recovered from 3 patients were type f capsulate, with three of them belonging to the same clone. beta-Lactamase production was detected in 23.9% of isolates while 7% of the beta-lactamase-negative isolates presented diminished susceptibility to ampicillin (beta-lactamase-negative ampicillin resistance phenotype). Remarkably, 21.3% of the H. influenzae isolates presented decreased susceptibility to ciprofloxacin, which was mainly observed in persisting clones. Of the H. influenzae isolates from CF patients, 18 (14.5%) were found to be hypermutable in comparison with 1 (1.4%) from non-CF patients (P < 0.0001). Ten patients (33.3%) were colonized by hypermutable strains over the study period. A multiresistance phenotype and long-term clonal persistence were significantly associated in some cases for up to 7 years. These results suggest that H. influenzae bronchial colonization in CF patients is a dynamic process, but better-adapted clones can persist for long periods of time.     

Local genetic patterns within a vancomycin-resistant Enterococcus faecalis clone isolated in three hospitals in Portugal

Eight pulsed-field gel electrophoresis subtypes and six Tn1546 variants were identified among Enterococcus faecalis isolates of a single clone recovered in three geographically separate Portuguese hospitals. Some clonal subtypes were found in particular hospitals, and Tn1546 variants were either widespread or confined to some of them. We also report on the first Tn1546 transposon containing an ISEf1 insertion.