Thyroid transription factor-1 (TTF-1) is a homeodomain-containing nuclear transcription factor, important in regulation of the thyroid-specific genes thyroglobulin (Tg), thyroperoxidase (TPO), and thyrotropin receptor (TSHR). TTF-1 is an early biochemical marker of thyroid differentiation, essential for thyroid development and maintenance of the thyroid differentiated state. It is possible that mutations in titf1 gene encoding TTF-1 could result in failure of the thyroid gland to develop. Single strand conformation polymorphism (SSCP) was used to detect the presence of titf1 gene mutation in a group of 15 patients with congenital hypothyroidism. The etiology of the congenital hypothyroidism included thyroid agenesis (9), sublingual ectopic thyroid (4), and severe hypoplasia (2). The analysis did not identify any titf1 gene mutation, among these patients. These results rule out the presence of titf1 mutations, at least in the coding region, in our thyroid dysgenesis patients. Mutations in titf1 coding region may be an extremely rare event, and was not detected in our small sample size or, alternatively, such a mutant might even be viable since TTF-1 plays an important role in lung, brain, and pituitary development.

Very primitive ultramafic igneous rocks occur at Mt. La Queglia (Abruzzo, Italy). They form a strongly deformed sill–dyke system now tilted vertically. These rocks were initially classified as alnöite and, subsequently, have been suggested to be a carbonatitic olivine melilitite. However, further investigation and interpretation of these rocks is needed due to the presence of hand-specimen-scale textural variation suggesting a complex petrogenesis. We study the texture, mineral chemistry, and whole-rock geochemistry to define three main rock-types. (1) A brecciated rock with an ocellar texture composed of calcite pseudomorphs after olivine and melilite, plus fresh diopside in a groundmass of mica, aegirine, garnet, calcite, apatite, perovskite, titanate and chlorite. Zoned ocelli in this rock show an amoeboid shape, agglutination, and menisci typical of a plastic state. (2) A quenched rock showing a spinifex texture containing long feathery phenocrysts of cpx and mica suspended in a groundmass of nepheline, aegirine, apatite, Ti–rich magnetite, plus abundant calcite and some K-feldspar and zeolites. (3) A coarse-grained rock is composed of calcite plus intergranular glauconite, a mixture of spinel mineral group and Ti–rich magnetite, accessory barite, pyrite, and chabazite-K. The igneous rocks at Mt. La Queglia show extreme SiO2-undersaturation (33.5–37.3 wt% SiO2), high MgO contents and TiO2/Al2O3 ratios. Rock-type 1 has a lower Mg number Mg# = 100 × [Mg/(Mg + Fe2+)], higher Ca number Ca# = 100 × [Ca/(Ca + Mg)], high Cr (up to 720 ppm) Ni (up to 379 ppm), higher rare earth elements (REE) contents as well as La/Lu ratio, compared to rock-type 2. Perovskite and chromite accumulation seems an important agent during rock differentiation. Rock-type 3 shows REE cross-over with rock-type 2 suggesting light (L)REE concentration in a carbothermal residuum. Mt. La Queglia rocks are an end-member compared to other Upper Cretaceous and Paleogene Italian lamprophyres, suggesting a low degree of melting of a HIMU (a colloquialism for “high-μ”; referring to mantle domains with high 238U/ 204Pb) garnet-bearing mantle source.

Ancient human settlements accumulate essential historical, archaeological, and geological information. An example is the St. Angel Cave, which preserves a Romanesque church and a complex of lustral tubs in the Eastern Maiella Massif (Central Apennines of Italy). Historical chronicles and archaeological data show that the church dates to the 10th–11th century. The archaeometry applied to the ceramic, coin, and wooden artefacts resulting from the excavation established a chronology of the periods of use and abandonment of the St. Angel Cave. The layering of architectural elements, changes in style, and alterations of the church structure account for two collapses. The first could be related to the poorly known 1209 earthquake. In addition, we describe the damage and changes to the structure and the use of space caused probably by the 1706 and 1933 earthquakes.

We investigated hellandite-group mineral phases from the Roman Region, alkali syenite ejecta, by multimethod analyses. They show a complex crystallisation history including co-precipitation of hellandite-(Ce) with brockite, resorption, sub-solidus substitution with mottanaite-(Ce), exsolution of perthite-like ferri-mottanaite-(Ce), overgrowth of an oscillatory-zoned euhedral shell of ferri-mottanaite-(Ce) and late, secondary precipitation of pyrochlore in the cribrose hellandite-(Ce) core. LREE/HREE crossover and a negative Eu anomaly in hellandite-group minerals follows fO2 increase during magma cooling. The distinction among the hellandite-group minerals is based on the element distribution in the M1, M2, M3, M4 and T sites. Additional information on miscibility relationship among the hellandite sensu strictu, tadzhikite, mottanaite, ferri-mottanaite and ciprianiite endmembers derives from molar fraction calculation. We observed that change in composition of hellandite-group minerals mimic the ligands activity in carbothermal-hydrothermal fluids related to carbonatitic magmatism.