SUMMARY Autoimmune polyglandular syndromes (APS) are conditions characterized by the association of two or more organ‐specific disorders. Type 2 APS is defined by the occurrence of Addison's disease with thyroid autoimmune disease and/or Type 1 diabetes mellitus. Clinically overt disorders are considered only the tip of the autoimmune iceberg, since latent forms are much more frequent. Historical, clinical, genetic, and immunological aspects of Type 2 APS are reviewed. Furthermore, data on 146 personal cases of Type 2 APS are also reported.
Summary Purpose: Ring chromosome 20 [r(20)] syndrome is a well‐defined chromosomal disorder characterized by epilepsy, mild‐to‐moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. Methods: We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. Results: As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. Conclusion: This clinical picture can be described as abrupt epileptic encephalopathy.
Dietary supplementation with physiological doses of Se seems to be effective in preventing a reduction in thyroid echogenicity after 6 months of treatment and in reducing TPO-Ab and Tg-Ab after 12 months, but does not modify TSH or FT4.
BackgroundThe incidence of food allergy is such that most schools will be attended by at least one food allergic child, obliging school personnel to cope with cases at risk of severe allergic reactions. Schools need to know about food allergy and anaphylaxis management to ensure the personal safety of an increasing number of students. The aim of this study was to investigate Italian school teachers and principals’ knowledge, perceptions and feelings concerning food allergy and anaphylaxis, to deeply understand how to effectively support schools to manage a severely allergic child. In addition a further assessment of the impact of multidisciplinary courses on participants was undertaken.Methods1184 school teachers and principals attended courses on food allergy and anaphylaxis management at school were questioned before and after their course. Descriptive and inferential statistics were used to analyze the resulting data.ResultsParticipants tended to overestimate the prevalence of food allergy; 79.3% were able to identify the foods most likely involved and 90.8% knew the most frequent symptoms. 81.9% were familiar with the typical symptoms of anaphylaxis but, while the majority (65.4%) knew that “adrenaline” is the best medication for anaphylaxis, only 34.5% knew indications of using adrenaline in children. 48.5% thoroughly understood dietary exclusion. School personnel considered that food allergic students could have social difficulties (10.2%) and/or emotional consequences (37.2%) because of their condition. “Concern” was the emotion that most respondents (66.9%) associated with food allergy. At the end of the course, the number of correct answers to the test increased significantly.ConclusionsHaving adequately trained and cooperative school personnel is crucial to significantly reduce emergencies and fatal reactions. The results emphasize the need for specific educational interventions and improvements in school health policies to support schools to deal with allergic students ensuring their safety and psychological well-being.
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