Difference in early development of presumed monozygotic twins with Rett syndrome

Normal early development has generally been insisted on as an essential criterion for the diagnosis of Rett syndrome. A new set of monozygotic female twins is reported. Twin 1 was considered to be abnormal from birth while delay was not suspected in twin 2 until she was about one year old. Some regression occurred during the second year in both twins, who are now clinically indistinguishable from each other at age 4 years. Other than a slight difference in head circumference at birth, no environmental factor which could account for the clinical difference has been identified.     

Evaluation of the antigenotoxicity of polysaccharides and β-glucans from Agaricus blazei,a model study with the single cell gel electrophoresis/Hep G2 assay

The mushroom Agaricus blazei (Agaricus brasiliensis) has been drawing attention because of its medicinal properties. Among its isolated compounds, special consideration is given to β-glucans, which are cell wall polysaccharides. The aim of the present work was to determine the genotoxic and/or antigenotoxic effects of the total polysaccharides of this mushroom and β-glucans, both extracted at different stages of fruiting body maturity (immature, mature stage with immature spores and mature stage with mature spores). β-glucan genotoxicity was examined using the comet assay in the HepG2 cell line. Additionally, the protective effect of total polysaccharides and β-glucans was tested against H₂O₂, bleomycin and doxorubicin. The results demonstrated that total polysaccharides and β-glucans had no genotoxic effects. On the contrary, they protected DNA against damage caused by the three inducers used. However, total polysaccharides had limited protective effects while being ineffective against doxorubicin. Interestingly, the largest protective effect was seen with extracts from the ripest stages and in the absence of isolated β-glucan.     

Canine Leishmaniasis in Southeastern Spain

To examine prevalence changes and risk factors for canine leishmaniasis, we conducted a cross-sectional seroprevalence study and a survey during April–June 2006. Seroprevalence had increased at the meso-Mediterranean bioclimatic level over 22 years. Risk was highest for dogs that were older, large, lived outside, and lived at the meso-Mediterranean level.     

Drug rash with eosinophilia and systemic signs syndrome in a patient with multiple sclerosis

Introduction: Drug rash with eosinophilia and systemic signs (DRESS) syndrome is defined by the triad of fever, dermatitis, and internal organ involvement, characteristically occurring with a delay of 3 to 8 weeks after the initiation of treatment with the associated drug. We describe a case of DRESS syndrome in a patient with multiple sclerosis (MS), characterized by a very high eosinophilia and cholestatic hepatitis.Case summary: A 44-year-old white woman with primary progressive MS receiving a multidrug of PO baclofen 75 mg/d, PO piracetam 3 g/d, and IV mitoxantrone 10 mg administered once a month presented to the Multiple Sclerosis Center, University of Catania, Catania, Italy. Eight weeks after the introduction of the latter 2 drugs, the patient had clinical and histological signs of severe cholestatic syndrome followed by hypereosinophilia. All treatments were stopped on admission. Laboratory tests (serologic viral markers, autoantibody pattern antinuclear autoantibodies, antismooth muscle autoantibodies, antimitochondrial autoantibodies, antineutrophil-cytoplasmic autoantibodies, antiliver-kidney-microsomes), abdomen ultrasound, and magnetic resonance cholangiopancreatography did not reveal a cause of the cholestatic syndrome. A liver biopsy was performed because of the persistence of the clinical signs. A Naranjo rating of 4 suggested that mitoxantrone was possibly associated with the occurrence of DRESS. Six months after the first symptoms of DRESS appeared, laboratory tests were normal. Although there are few diagnostic methods for confirming an adverse drug hypersensitivity reaction, a skin prick test suggested a marked positivity for mitoxantrone at all concentrations (100%, 50%, 10%). During the first 72 hours, reaction was characterized by skin edema, erythema, and itchiness in the site of inoculation of the drug. The local reaction started to regress after 72 hours, with a complete restitution ad integrum in 6 days. A blue discoloration of skin remained for an additional 13 days.Conclusion: We report a case of DRESS syndrome possibly associated with mitoxantrone in a patient with MS.     

Disability in migraine patients: Italian experience

Migraine is associated with functional impairment. The migraine disability assessment (MIDAS) scale is a scientific instrument which captures headache–related disability. The Italian version of MIDAS was developed through a multi–step standardized methodology. Studies on Italian clinical samples showed that migraine patients were disabled in all activity domains. Non–work activities were more affected than work activities. Among patients in paid work, most continued working with a headache attack, although productivity was significantly reduced. The Italian MIDAS was used also in patients with transformed migraine and drug overuse. These patients were markedly disabled. MIDAS scores were higher than those found in migraine patients. When disability was assessed after 6 months from withdrawal therapy, MIDAS scores were significantly lower than at baseline. Our results confirmed the negative impact of the lives of headache patients, and suggest the use of MIDAS as a sensitive outcome measure for monitoring patients’ progress.