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Milazzo L Foschi A Antinori S 《Hepatology (Baltimore, Md.)》2012,55(3):979; author reply 980-979; author reply 981
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During a screening program for the identification of β-thalassemia (β-thal) carriers in Sardinia, Italy, we identified two subjects with increased hemoglobin (Hb) levels and an abnormal Hb variant. The same variant was detected in a family member. DNA sequencing revealed a TGT > TGG mutation at codon 93 of the β-globin gene. Structural analysis demonstrated that the cystine residue at position 93 of the β chain was substituted by tryptophan. Since this amino acid substitution had not yet been reported, we designated this variant Hb Santa Giusta Sardegna for the place of birth of the subjects. This amino acid substitution occurs at the tyrosine pocket of the β chain as well as at the α1β2/α2β1 contact of the quaternary structure of the molecule. The presence of this Hb in the hemolysate causes an increased oxygen affinity, a slightly reduced Bohr effect and a reduced heme-heme interaction (n(50), Hill's constant) in comparison with those of Hb A. 相似文献
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Antonino Cannas Giuseppe Borghero Gian Luca Floris Paolo Solla Adriano Chiò Bryan J. Traynor Andrea Calvo Gabriella Restagno Elisa Majounie Emanuela Costantino Valeria Piras Loredana Lavra Carla Pani Gianni Orofino Francesca Di Stefano Paolo Tacconi Marcello Mario Mascia Antonella Muroni Maria Rita Murru Stefania Tranquilli Daniela Corongiu Marcella Rolesu Stefania Cuccu Francesco Marrosu Maria Giovanna Marrosu 《Neurogenetics》2013,14(2):161-166
Based on our previous finding of the p.A382T founder mutation in ALS patients with concomitant parkinsonism in the Sardinian population, we hypothesized that the same variant may underlie Parkinson's disease (PD) and/or other forms of degenerative parkinsonism on this Mediterranean island. We screened a cohort of 611 patients with PD (544 cases) and other forms of degenerative parkinsonism (67 cases) and 604 unrelated controls for the c.1144G > A (p.A382T) missense mutation of the TARDBP gene. The p.A382T mutation was identified in nine patients with parkinsonism. Of these, five (0.9 % of PD patients) presented a typical PD (two with familiar forms), while four patients (6.0 % of all other forms of parkinsonism) presented a peculiar clinical presentation quite different from classical atypical parkinsonism with an overlap of extrapyramidal–pyramidal–cognitive clinical signs. The mutation was found in eight Sardinian controls (1.3 %) consistent with a founder mutation in the island population. Our findings suggest that the clinical presentation of the p.A382T TARDBP gene mutation may include forms of parkinsonism in which the extrapyramidal signs are the crucial core of the disease at onset. These forms can present PSP or CBD-like clinical signs, with bulbar and/or extrabulbar pyramidal signs and cognitive impairment. No evidence of association has been found between TARDBP gene mutation and typical PD. 相似文献
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Michele Raja Antonella Azzoni 《International journal of psychiatry in clinical practice》2013,17(2):146-148
Objective. To point out the danger of worsening mood disorders with the use of hypericum. Methods. Longitudinal clinical observation of two cases treated with hypericum. Results. The two patients underwent mixed episodes following hypericum treatment. One of them needed hospitalization for suicidal risk. Conclusion. Caution is warranted in the use of hypericum in depressed patients with hidden bipolarity. Patients should be informed that hypericum may induce manic symptoms, increase cycling of mood states, or worsen the depressive state. 相似文献
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