This study on serum ferritin levels in urinary iron excretion after 12h subcutaneous infusion of desferrioxamine in 10 thalassemia intermedia patients shows that even nontransfusion-dependent patients may have positive iron balance resulting in iron overload from 5 years of age. However, the iron overload found in these patients appears to be much lower than in age matched patients with transfusion-dependent thalassemia major. Iron overload increases with advancing age, as shown by increasing serum ferritin levels and desferrioxamine-induced urinary iron elimination. After a six month trial of 12h continuous subcutaneous desferrioxamine administration there was a significant decline in serum ferritin levels. From this study it seems that iron chelation is indicated in thalassemia intermedia patients over 5 years of age in order to prevent iron accumulation. However, the appropriate treatment schedule should be tailored to the individual needs of each patients, established by close monitoring of serum ferritin levels and desferrioxamine-induced urinary iron elimination.
Background: The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis.
Objectives:Celiac disease (CD) is an autoimmune disorder that can be divided into typical and atypical forms. Atypical forms can show extraintestinal manifestations among which oral signs are very frequent. Considering that the pathogenesis of CD is related to a positivity to specific HLA-DQB1 haplotypes, we tested whether the presence of the HLA-DQB1*02 allele could be a hypothetical cause of the development of oral manifestations.Subjects and Methods:For this study was been examined the oral condition of 98 Sardinian patients, all affected by CD and all on a gluten-free diet for at least 1 year. Then was been determined each patient’s HLA-DQB1 haplotype and compared these results with clinical information. Results:The statistical analysis evidenced that the absence of the HLA-DQB1*02 allele predisposes to oral manifestations such as dental enamel defects (DED) and recurrent aphthous stomatitis (RAS) (Pvalue=5.98x10-05, OR = 0.23, CI: (0.10 - 0.45) per each copy of the HLA allele). Conclusions:These results showed that the presence of the HLA-DQB1*02 allele influences the development of oral signs in a dose-dependent manner and also how the HLA haplotype connected to oral signs could have a fundamental role for the diagnosis of atypical forms of CD.
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and hydrocephalus. Seven cases have been reported. This report presents a new sporadic patient with megalencephaly, polymicrogyria, and hydrocephalus syndrome, a girl born to healthy, nonconsanguineous parents at 38 weeks. Macrocephaly (+4 standard deviation) was present at birth. She had syndactyly instead of the postaxial polydactyly reported in the other patients. Neurologic examination showed severe diffuse hypotonia and profound developmental delay. Magnetic resonance imaging revealed enlarged lateral and third ventricles, with cavum septi pellucidi et vergae, bilateral abnormal white matter intensity, and diffuse polymicrogyria, most prominent in both the frontal and perisylvian regions. A visual evoked potential study showed increased latencies, probably caused by white matter abnormalities. At 16 months, she has never had seizures and shows profound psychomotor retardation. Results of metabolic and genetic studies were normal.
Although Sardinia does not show reduced diversity at the TPMT locus, the spectrum of TPMT allele frequencies affords evidence of remarkable influence of genetic drift and founder effects throughout its population history. In the broad context of the European TPMT diversity, the Sardinians come out as outliers, an observation consistent with previous genetic inferences that Sardinia has features of a genetic isolate.
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