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Severe Lesions (severe + lesion)
Selected AbstractsMouse toxicity of Anabaena flos-aquae from Lake Dianchi, ChinaENVIRONMENTAL TOXICOLOGY, Issue 1 2009Xiaojie Pan Abstract Some species of the genera Anabaena can produce various kinds of cyanotoxins, which may pose risks to environment and human health. Anabaena has frequently been observed in eutrophic freshwater of China in recent years, but its toxicity has been reported only in a few studies. In the present study, the toxicity of an Anabaena flos-aquae strain isolated from Lake Dianchi was investigated. Acute toxicity testing was performed by mouse bioassay using crude extracts from the lyophilized cultures. The mice exposed to crude extracts showed visible symptoms of toxicity and died within 10,24 h of the injection. Serum biochemical parameters were evaluated by the use of commercial diagnostic kits. Significant alterations were found in the serum biochemical parameters: alkaline phosphatase (AKP), ,-glutamyl transpeptidase (,-GT), aspartate amino transferase (AST), alanine amino transferase (ALT), AST/ALT ratio, total protein content, albumin content, albumin/globulin (A/G) ratio, blood urea nitrogen (BUN), serum creatinine (Ssr), and total antioxidative capacity (T-AOC). Histopathological observations were carried out with hematoxylin and eosin (HE) stain under light microscope. Severe lesions were seen in the livers, kidneys, and lungs of the mice injected with crude extracts. The alterations of biochemical parameters were in a dose-dependent manner, and the severities of histological lesions were in the same manner. Based on biochemical and histological studies, this research firstly shows the presence of toxin-producing Anabaena species in Lake Dianchi and the toxic effects of its crude extracts on mammals. © 2008 Wiley Periodicals, Inc. Environ Toxicol, 2009. [source] The fine needle aspiration biopsy diagnostic criteria of proliferative breast lesions: A retrospective statistical analysis of criteria for papillomas and radial scar lesionsDIAGNOSTIC CYTOPATHOLOGY, Issue 7 2007Andrew Field F.R.C.P.A. Abstract This study aimed to analyze statistically the accuracy of fine needle aspiration biopsy cytological criteria in diagnosing epithelial hyperplasia with atypia (EHA), papillary lesions (PAP), and radial scar/complex sclerosing lesions (RS/CSL). The 42 criteria studied were extracted from a literature review and those developed and used in our department. Cytological cases with diagnoses of EHA, PAP, and RS/CSL for the period of 1997,2001 were correlated with relevant histological follow-up and the positive predictive power of these diagnoses have been presented in an earlier publication. Some 77 cases with definite, specific histological diagnoses of atypia or a more severe lesion, PAP and RS/CSL, were reviewed and scored using 55 cytological criteria. As the group of EHA and RS/CSL yielded a smaller number of cases, these were grouped together in the statistical analysis and compared to PAP. The cytological features, which were most diagnostic for PAP, were stellate (Odds ratio 1.75) and meshwork (Odds ratio 3.29) tissue fragments, while the presence of tubular structures was inversely proportional to the histological outcome of PAP. True papillary fragments were uncommon and not statistically significant in diagnosing PAP of the breast. Diagn. Cytopathol. 2007;35:386,397. © 2007 Wiley-Liss, Inc. [source] Clinical impact (cost-effectiveness) of qualifying atypical squamous cells of undeterminate significance (ASCUS) in cases favoring a reactive or dysplastic processDIAGNOSTIC CYTOPATHOLOGY, Issue 1 2003F.M. Carozzi Ph.D. Abstract The cost-effectiveness of qualifying ASCUS cases into two different subcategories, favoring a reactive (ASCUS-R) or dysplastic process (ASCUS-S), was evaluated at the Centro per lo Studio e la Prevenzione Oncologica of Florence in a prospective study. The study determined the positive predictive value (PPV) for histologically confirmed cervical intraepithelial neoplasia grade 2 (CIN2) or more (CIN>) severe lesion of the two ASCUS subgroups. ASCUS-S had a PPV (10.78%) comparable to low-grade squamous intraepithelial lesions (LSIL) (11.40%). For ASCUS-R cases, the recommendation of 6-mo repeat cytology prompting colposcopy in cases of persistent ASCUS or more severe cytology was also effective, as it selected a subgroup with a relatively high PPV (10.34%). The cost-effectiveness of a protocol based on ASCUS qualification was compared with two other possible options for nonqualified ASCUS cases: immediate colposcopy and colposcopy in persistent ASCUS at 6-mo repeat cytology.. The detection rate of CIN2> was substantially higher using ASCUS qualification (35.9 vs 14.8 or 17.1). The cost per ASCUS subject was ,24.99, 27.11, or 25.14 and that per CIN2> detected was ,697, 1,831 or 1,470 for the three options, respectively. The evidence that ASCUS detection option implies a higher detection rate of CIN2> and subsequently a lower cost per CIN2> detection must be considered with caution and deserves confirmation by other comparative studies. Diagn. Cytopathol. 2003;29:4,7. © 2003 Wiley-Liss, Inc. [source] Angioplasty and stenting of symptomatic and asymptomatic vertebral artery stenosis: to treat or not to treatEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2010V. Parkhutik Background and purpose:, Comprehensive indications for treatment of symptomatic vertebral stenosis remain unavailable. Even less is known about endovascular treatment of asymptomatic cases. We treated symptomatic and asymptomatic vertebral ostium stenosis with angioplasty and stenting and investigated the long term outcome. Methods:, Consecutive patients with two different indications were included. Group 1 (G1) had symptomatic >50% stenosis. Group 2 (G2) had asymptomatic >50% stenosis and severe lesions of anterior circulation and were expected to benefit from additional cerebral blood supply. Results:, Twenty nine vertebral origin stenoses in 28 patients (75% men, mean age 64 ± 9 years) were treated. There were 16 G1 and 13 G2 cases. Technical success rate was 100%. Immediate neurological complications rate was 3.4% (one G1 patient with vertebral TIA due to release of emboli). Two further strokes were seen during follow up (32 ± 24 months): vertebrobasilar stroke in a G2 patient with permeable stent in V1 segment, new ipsilateral V3 occlusion and high-risk cardioembolic source, and carotid stroke in a G1 patient who had had ipsilateral carotid stenting. There were no deaths of any cause. Asymptomatic restenosis was observed in one out of 19 patients from both groups who underwent a follow up angiography. Conclusions:, Angioplasty and stenting appears to be technically feasible and safe in asymptomatic and symptomatic vertebral stenosis. More studies are needed in order to clarify its role in primary and secondary prevention of vertebrobasilar stroke. High risk anterior circulation lesions should be taken into account as a possible indication in patients with asymptomatic vertebral stenosis. [source] DNA vaccines against chronic lung infections by Pseudomonas aeruginosaFEMS IMMUNOLOGY & MEDICAL MICROBIOLOGY, Issue 2-3 2003J Staczek Abstract Vaccines containing outer membrane protein F (OprF) of Pseudomonas aeruginosa are effective in reducing lesion severity in a mouse pulmonary chronic infection model. One OprF-based vaccine, called F/I, contains carboxy oprF sequences fused to oprI in an expression vector. When delivered three times biolistically by gene gun, the F/I vaccine induces protection that is antibody-mediated in outbred mice. To demonstrate the role of F/I -induced antibody-mediated immunity, B-cell-deficient [B(,)] and B-cell-intact [B(+)] mice were immunized with F/I, challenged with Pseudomonas, and examined for lesion severity. As expected, F/I -immunized B(+) mice had fewer and less severe lesions than vector-immunized B(+) mice. However, surprisingly, F/I - and vector-immunized B(,) mice were equally protected to levels similar to F/I -immunized B(+) mice. Examination of immune cell populations and cytokine levels indicated a relative increase in the quantity of CD3+ T-lymphocytes in vector- or F/I -immunized and challenged B(,) mice compared to B(+) mice. These data indicate the protective role played by cell-mediated immunity in B(,) mice, which supports our hypothesis that cell-mediated immunity can play an important role in protection against P. aeruginosa. [source] Chemokine expression in the white matter spinal cord precursor niche after force-defined spinal cord contusion injuries in adult ratsGLIA, Issue 8 2010Friederike Knerlich-Lukoschus Abstract Inflammatory cascades induced by spinal cord injuries (SCI) are localized in the white matter, a recognized neural stem- and progenitor-cell (NSPC) niche of the adult spinal cord. Chemokines, as integrators of these processes, might also be important determinants of this NSPC niche. CCL3/CCR1, CCL2/CCR2, and SDF-1,/CXCR4 were analyzed in the ventrolateral white matter after force defined thoracic SCI: Immunoreactivity (IR) density levels were measured 2 d, 7 d, 14 d, and 42 d on cervical (C 5), thoracic (T 5), and lumbar (L 5) levels. On day post operation (DPO) 42, chemokine inductions were further evaluated by real-time RT-PCR and Western blot analyses. Cellular phenotypes were confirmed by double labeling with markers for major cell types and NSPCs (nestin, Musashi-1, NG2, 3CB2, BLBP). Mitotic profiles were investigated in parallel by BrdU labeling. After lesion, chemokines were induced in the ventrolateral white matter on IR-, mRNA-, and protein-level. IR was generally more pronounced after severe lesions, with soaring increases of CCL2/CCR2 and continuous elevations of CCL3/CCR1. SDF-1, and CXCR4 IR induction was focused on thoracic levels. Chemokines/-receptors were co-expressed with astroglial, oligodendroglial markers, nestin, 3CB2 and BLBP by cells morphologically resembling radial glia on DPO 7 to DPO 42, and NG2 or Musashi-1 on DPO 2 and 7. In the white matter BrdU positive cells were significantly elevated after lesion compared with sham controls on all investigated time points peaking in the early time course on thoracic level: Here, chemokines were co-expressed by subsets of BrdU-labeled cells. These findings suggest an important role of chemokines/-receptors in the subpial white matter NSPC niche after SCI. © 2010 Wiley-Liss, Inc. [source] Detection of in vitro demineralization of primary teeth using quantitative light-induced fluorescence (QLF)INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 3 2002I. A. Pretty Summary. Introduction. With the advent of remineralizing therapies and the new, conservative approach to restoration placement, interest in detecting and monitoring subclinical, precavitated lesions has increased. The increased understanding of clinicians about the processes of primary and secondary prevention and the detection of lesions to which these therapies may be applied, is one of the current goals in caries management. Quantitative light-induced fluorescence (QLF) is a new method for the detection of very early caries. Objectives. To determine the ability of QLF to detect and longitudinally monitor in vitro enamel demineralization. To present the device to the paediatric community and present future in vivo uses of the device. Design. An in vitro study with combined in vivo pilot. Sample and methods. Twelve previously extracted, caries free, primary molars were selected and prepared. Two teeth were randomly selected as controls. Teeth were prepared by gentle pumicing and coating in an acid-resistant nail-varnish, except for an exposed window on the buccal surface. QLF baseline images were taken and the teeth then exposed to a demineralizing solution. Teeth were removed at regular intervals (24, 48, 72, 96, 120, and 144 h), air-dried and QLF images taken. QLF images were analysed by a single, blinded examiner (to control, to length of exposure). Mineral loss, as measured by ,Q, was recorded. Results. Demineralization was noted in all experimental teeth by 48 h, and within 24 h in six teeth. The QLF successfully monitored the increase in mineral loss over time (P < 0·05). The detected lesions were not visible clinically until 144 h and then in only the most severe lesions. No demineralization was detected by QLF in control teeth. The device was user- and patient-friendly in vivo, detecting subclinical lesions. Conclusion. Detection of very early mineral loss and subsequent monitoring of this loss is possible in primary teeth using QLF. The device is well suited to use in paediatric dentistry and offers applications for both clinicians and researchers. The determination of the status of carious lesions (active/inactive) will be possible with readings taken at recall appointments. [source] Destructive arthritis in Behçet's disease: a report of eight cases and literature reviewINTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 3 2009F. FRIKHA Abstract Behçet's disease (BD) is a multisystemic disease with typically non-erosive and non-deforming joint manifestations. The occurrence of destructive arthritis in Behçet's disease has rarely been reported. Here we attempt to define the epidemiological, clinical and radiological features of this unusual type of osteoarticular manifestation of BD. We retrospectively reviewed the medical records of 553 patients with Behçet's disease seen over 25-year period in our department of Internal Medicine (Sfax-Tunisia). All the patients fulfilled The International Study Group of Behçet's Disease criteria. Patients with destructive arthritis (defined by radiological changes: erosions and/or geodes and/or global narrowing of the joint space and/or ankylosis) were included in this study. Rheumatologic manifestations were observed in 71.1% patients. Eight patients (1.4% overall, 2% among patients with rheumatologic manifestations) had presented with destructive arthritis. The joint symptoms involved the knee in two cases, the wrist in one case, the elbow (one case), the sternoclavicular joint in two cases, the foot in one case and the tarsal scaphoïd in one case. There was recurrent arthritis at the same joint in the majority of cases. X-ray examinations revealed radiological changes: global narrowing of the joint in one case (knee), narrowing of the joint with geodes in three cases (knee, sternoclavicular), isolated geodes in two cases (tarsal scaphoid, foot) and severe lesions with ankylosis in two cases (two elbows, right wrist). Joint manifestations are common in patients with BD, but destructive arthritis is rare. [source] Measurement of Fractional Flow Reserve to Assess Moderately Severe Coronary Lesions: Correlation with Dobutamine Stress EchocardiographyJOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 5 2001MANUEL JIMÉNEZ-NAVARRO PH.D. Background: New techniques to evaluate coronary artery disease, such as calculation of myocardial fractional flow reserve (FFR) with a guidewire and pressure transducer, provide a functional assessment of coronary lesions. The present study was designed to determine the correlation between FFR and dobutamine stress echocardiography in patients with moderately severe coronary stenosis in order to judge the usefulness of FFR for commonly encountered clinical problems. Methods and Results: We studied 21 patients with 23 moderately severe coronary artery stenoses on angiography. The FFR was calculated and dobutamine stress echocardiography was performed to detect ischemia. Of the 16 stenoses with a negative FFR (, 0.75), dobutamine echocardiography also was negative. In the seven stenoses with a positive FFR (< 0.75), dobutamine echocardiography was positive in three. The efficacy of FFR in detecting ischemia that was confirmed with stress echocardiography was sensitivity 100%, specificity 80%, positive and negative predictive value 42.8%, and 100%. respectively, with a global predictive value 82.6%. A moderate degree of correlation was found between the two diagnostic tests (kappa [k] = 0.51). Conclusions: FFR correlates moderately well with dobutamine stress echocardiography in the assessment of moderately severe lesions in patients for whom coronary arteriography is usually indicated. However, its high negative predictive value makes FFR a useful aid in reaching clinical decisions promptly in the hemodynamics laboratory. [source] HPA-suppressive effects of aqueous clobetasol propionate in the treatment of patients with oral lichen planusJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 9 2010MA Gonzalez-Moles Abstract Background, Oral topical corticosteroids have potential to produce inhibition of the hypothalamus,pituitary,adrenal (HPA) axis. Objective, To assess whether clobetasol propionate (CP) in aqueous solution causes HPA inhibition. Patients and methods, Sixty-two patients with oral lichen planus or oral lichenoid lesions presenting with severe lesions were treated with topical oral 0.05% CP plus 100 000 IU/cm3 nystatin in aqueous solution. Initial treatment of three 5-min mouthwashes (10 mL) daily was reduced, when the response was deemed complete or excellent, to a maintenance treatment of one 5-min mouthwash on alternate days for 6 months; treatment was then withdrawn and patients were followed up for 1 year. HPA function was assessed by plasma cortisol measurement and adrenocorticotropin (ACTH) stimulation at the end of the initial and maintenance treatment regimens. Results, The HPA axis was more frequently inhibited during initial (53/62; 85.5%) vs. maintenance (2/49; 4%) regimens of aqueous CP. Limitations, In patients with morning plasma cortisol levels between 3 and 18 ,g/dL, a normal result for the ACTH stimulation test only moderately reduces the possibility that a patient has secondary adrenal insufficiency. This can be considered a minor limitation in our study, as only three patients required additional assessment with the ACTH stimulation test. Conclusions, Hypothalamus,pituitary,adrenal inhibition is substantial during initial treatment with aqueous CP three times daily. [source] Experimental autoimmune cholangitis: a mouse model of immune-mediated cholangiopathyLIVER INTERNATIONAL, Issue 5 2000David E. J. Jones Abstract:Background: Primary biliary cirrhosis (PBC) is characterised by intra-hepatic immune-mediated cholangiopathy (non-suppurative destructive cholangitis (NSDC)). Although auto-reactive immune responses against pyruvate dehydrogenase complex (PDC) have been characterised in PBC, the lack of an animal model of the disease has limited study of the mechanisms of disease induction and the development of novel approaches to therapy. Aims: To develop and validate a mouse model of immune-mediated cholangiopathy relevant for future use in the study of the aetio-pathogenesis and therapy of PBC. Methods: Female SJL/J, C57BL/6, NOD and BALB/c mice were sensitised with PDC, its purified E2/E3BP component, and a PDC-E2 derived peptide p163 (a dominant T-cell epitope in humans) in complete Freund's adjuvant (CFA). Morphological changes were assessed under light microscopy by a hepatic histopathologist blinded to the experimental details. Antibody responses to PDC were studied by ELISA and PDC inhibition assay. Results: An initial series of experiments was performed to survey the susceptibility of female mice of a range of strains to the induction of NSDC by i.p. sensitisation with PDC, PDC-E2/E3BP or p163 in CFA. Although each animal showed a specific antibody response following sensitisation, it was found that NSDC development (assessed at 30 weeks post-sensitisation) was restricted to SJL/J mice following sensitisation with any of the mitochondrial antigen preparations. A subsequent series of experiments was performed to examine the specificity and aetiology of this disease. Significant bile duct lesions were only seen in SJL/J animals following sensitisation with CFA containing PDC, and were absent from CFA only and un-sensitised controls. Kinetic analysis revealed that this pathology developed slowly, but a high incidence of animals with severe lesions was observed after 30 weeks. Conclusions: We have described a model of experimental autoimmune cholangitis (EAC) with immunological (anti-PDC antibodies) and histological (immune-mediated cholangiopathy) features suggestive of PBC. This model may be useful in further defining the role of self-tolerance breakdown in the development of this condition. [source] Stratum corneum TARC level is a new indicator of lesional skin inflammation in atopic dermatitisALLERGY, Issue 9 2010E. Morita To cite this article: Morita E, Takahashi H, Niihara H, Dekio I, Sumikawa Y, Murakami Y, Matsunaka H. Stratum corneum TARC level is a new indicator of lesional skin inflammation in atopic dermatitis. Allergy 2010; 65: 1166,1172. Abstract Background:, Management of atopic dermatitis (AD) requires judging the symptoms of local skin lesions and prescribing a suitable treatment. However, no method has been established in which objective measures can be used to evaluate the severity of local symptoms. We established a method for measuring thymus and activation-regulated chemokine (TARC) levels in the stratum corneum (scTARC), and examined whether the scTARC can be used as an indicator of the severity of local skin lesions in patients with AD. Methods:, Stratum corneum was obtained from patients with AD by tape-stripping, and scTARC was evaluated using a TARC-specific antibody followed by image analysis. The scTARC was examined to determine correlation with the severity of local skin lesions (the severity of erythema, edema/papule, oozing/crusts, excoriations, lichenification, and xerosis) as well as with the severity scoring of atopic dermatitis (SCORAD) index, serum TARC level, serum IgE level, serum lactate dehydrogenase (LDH) level, interleukin (IL)-4-producing T cell ratio (Th2 cell ratio), and blood eosinophil count. Results:, The scTARC was correlated with the severity of local skin lesions, especially with the erythema, edema/papule, and oozing/crusts score. The scTARC in the most severe lesions was also correlated with the SCORAD index, serum TARC level, serum IgE level, and blood eosinophil count. The scTARC was not, however, correlated with the serum LDH level and Th2 cell ratio. Conclusion:, An immunofluorescent technique combined with tape-stripping was used to measure scTARC. The scTARC can be used as an indicator of the severity of local acute inflammation in patients with AD. [source] A new experimental inbred Wistar rat varicocele model: anatomy of the left spermatic vein and the effect on histologyANDROLOGIA, Issue 1 2008Y. Zhang Summary Because of venous anatomical differences between rats and humans and the personal interpretation of these differences, there is neither consistent animal prototype nor consistent results in the study of varicocele. We established a new substrain of Wistar inbred rats, of which the left testis vein has no significant branches to the common iliac vein up pampiniform plexus, but instead enters the left renal vein directly (similar to humans) and used them to create experimental varicocele model by partial ligation of the left renal vein. One month later, the predominant lesion of the left testis in induced group was spermatogenic arrest at the spermatid and preliminary spermatocyte phases, and considerable interstitial and Sertoli cell vacuolation. The right testis also showed spermatogenic arrest. Most important, the characteristics of the lesions differed in both testes, with the left testis having more severe lesions. Allowing for the unique anatomy of the left spermatic vein, the standard of the surgical procedure, the high rate of varicocele induction, and identical histological alteration as occurs in humans, we believe that this inbred Wistar rat substrain is suitable for the creation of an experimental varicocele model, which has promise for practical application in humans. [source] Temporal patterns and quantification of excretion of Mycobacterium avium subsp paratuberculosis in sheep with Johne's diseaseAUSTRALIAN VETERINARY JOURNAL, Issue 1 2000RJ WHITTINGTON Objectives To determine the frequency of excretion of Mycobacterium avium subsp paratuberculosis in Merino sheep with Johne's disease and to quantify excretion in a group of Merino sheep. Design A pen and laboratory experiment Procedure Seven sheep selected from an affected flock on the basis of acid-fast bacilli in the sheep's faeces were housed and total daily faecal output was collected, weighed and subjected to culture for M avium subsp paratuberculosis. An end-point titration method was used to enumerate viable M avium subsp paratuberculosis in a 15 day pooled sample from five sheep that had acid-fast bacilli in their faeces while housed. Results Four sheep with subclinical multibacillary Johne's disease excreted M avium subsp paratuberculosis each day for 11 days of cultural observation. A further three sheep were intermittent excreters but lacked other evidence of infection with M avium subsp paratuberculosis. The average number of viable bacteria excreted was 1.09 × 108 per gram of faeces while total daily excretion was 8.36 × 1010 viable M avium subsp paratuberculosis per sheep. Examination of faecal smears stained with Ziehl Neelsen was an unreliable means of assessing daily excretion in individual animals except in those with severe lesions. Conclusion Excretion of M avium subsp paratuberculosis in Merino sheep with multibacillary Johne's disease occurred daily, proving that environmental contamination can be continuous on farms with endemic ovine Johne's disease. Faecal culture is a useful method for detecting infection as it does not appear to be affected by the timing of collection of a sample from sheep with multibacillary disease however, to maximise the sensitivity of disease surveillance using faecal culture, sampling rates should be adjusted to take account of the proportions of multibacillary and paucibacillary cases. [source] Lithium isotopes: differential effects on renal function and histologyBIPOLAR DISORDERS, Issue 4 2001Peter M Stoll Objectives: Reduction in renal concentrating ability has been reported in patients undergoing chronic lithium treatment. Prior work has demonstrated differences in physiological effects of the stable lithium isotopes, 6Li and 7Li. Here, we measured the degree of polyuria, polydipsia and kidney histological changes induced in rats by equimolar amounts of 6LiCl, 7LiCl and the commercially available mixture of both isotopes. Methods: Rats were given 1.0 mEq/kg of either 6LiCl, 7LiCl or ,nLiCl' (isotope mixture, 93% 7LiCl) by subcutaneous injection twice daily for up to 49 days. Twenty-four-hour urine volume and water intake were measured daily. Kidneys from rats treated for 7 days with 1.5 mEq/kg 6LiCl, 7LiCl and vehicle were examined under light microscopy and histopathologic changes graded on a 4-point scale of severity. Results: All rats showed loss in renal concentrating ability manifested by increasing urine volume and water intake. Peak effects occurred after 9,13 days treatment, then declined to stable levels at two to three times pre-treatment level. Mean peak effect was significantly greater for 6LiCl than for 7LiCl. Chronic effects of 6LiCl (weeks 3,7 of treatment) on polyuria and polydipsia were persistently higher than that of 7LiCl. nLiCl effect was intermediate. Kidneys from rats treated for 7 days with 6LiCl showed more frequently severe lesions in renal tubules than did 7LiCl-treated rats. Conclusions: Our current data and prior studies suggest that elimination or reduction of 6Li from pharmaceutical preparations may merit further evaluation as a possibly less potentially nephrotoxic form of lithium treatment. [source] Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion patternBRITISH JOURNAL OF DERMATOLOGY, Issue 4 2004D.K.B. Armstrong Summary Hepatoerythropoietic porphyria (HEP) is an uncommon inherited cutaneous porphyria, related to porphyria cutanea tarda, that results from severe uroporphyrinogen decarboxylase (UROD) deficiency. It is characterized clinically by the onset in early childhood of severe lesions on sun-exposed skin. We describe a man aged 38 years with an unusually mild form of the disease that started in his early teens. Our data confirm that homozygosity for the F46L mutation in the UROD gene causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates. [source] | ||||||||||