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Background: Thyroid hormone resistance syndrome (THRS) is a rare disorder with increased concentrations of free thyroxine (FT4) and triiodothyronine (FT3), but normal or slightly increased thyroid-stimulating hormone (TSH). The mutations in the thyroid hormone receptor β (THRβ) gene are thought to be the main pathogenesis. Objectives: The aims of this study were to present 1 pedigree of Chinese THRS, summarize their clinical characteristics, and analyze the gene mutation. Methods: The clinical characteristics and thyroid function of the proband and his family members were collected. Gene mutations were analyzed by DNA sequencing. Results: The proband and his mother exhibited symptoms of hyperthyroidism, such as palpitations, heat intolerance, and perspiration. The mother also had atrial fibrillation. The rest of the kindred did not display clinical manifestations of hyper- or hypothyroidism. DNA sequencing revealed a heterozygous G>A missense mutation at position 949 in Exon 9 of THRβ both in the patient and his mother, which led to the transition from alanine to threonine at position 317 of THRβ protein (A317T), whereas the rest of the kindred did not share this mutation. The proband and his mother were diagnosed with pituitary resistance to thyroid hormone. Oral administration of methimazole was stopped and β-receptor blockers were administrated. Conclusions: We present 1 pedigree of THRS with heterozygous A317T mutation in THRβ gene in the proband and his mother, which is the first reported mutation in Chinese and provides a comprehensive review of available literature.

Graphene nanoribbons (GNRs) are important nanomaterials. A carbon nanotube can be viewed as a GNR rolled into a seamless cylinder. By using the first-principles method based on the density-functional theory, the rolling deformation-dependent electronic characteristics of GNRs, including the band structure (particularly the bandgap), density of states (DOS), and transmission spectrum, are studied systematically. It is found that before all types of GNRs are rolled into carbon nanotubes, they are not sensitive to the rolling deformations, which means that for electronic structures and transport properties, GNRs have a very strong ability to resist the rolling deformations. After GNRs are rolled into nanotubes, zigzag-edge GNRs (ZGNRs) and armchair-edge GNRs (AGNRs) present distinct differences in property, ZGNRs almost maintain unchanged metallic behaviors or become quasi-metallic. But for AGNRs, their electronic characteristics experience large variations, and transformations occur between the quasi-metal and semiconductor with various bandgaps, which might be closely related to the periodical boundary conduction along the direction of tubular circumference of a carbon nanotube and variation of quantum confinement. These studies presented here are of significance for understanding the rolling effects on electronic characteristic and relationship of electronic characteristics between GNRs and carbon nanotubes (structure-property relationship).