METHODS: Sixty-six consecutive patients who had primary thyroid surgery were prospectively included in the present study between late January and early August 1998.
RESULTS: A total of 96 capsular dissections were performed at thyroid surgery. Grades two and three ZT were recognized in 77 (80.2%) dissections. In general 49 (63.6%) of them were associated with significant pressure symptoms. In 43 (87.8%) of the dissections with pressure symptoms, grade 3 ZT was observed (mean weight of goitre: 154.8 g). Interestingly in this group, 16 (37.2%) patients with pressure symptoms had a goitre that was < 100 g and in one patient it was only 21 g.
CONCLUSIONS: The pressure symptom of the thyroid gland does not always appear to be due to the large size of the goitre. In a relatively small-size goitre the ZT may cause significant pressure symptoms. Observations in the present study supported a strong association of enlarged ZT with pressure symptoms. We believe this is unlikely to be simply a coincidence but rather a consequence of the enlarged tubercle. Nonetheless a prospective randomized study is called for to allow meaningful and objective evidence to be drawn.
METHODS: Pooled urine samples of patients with BTG (n=10), patients with PTC (n=9) and healthy controls (n=10) were subjected to iTRAQ analysis and immunoblotting.
RESULTS: The ITRAQ analysis of the urine samples detected 646 proteins, 18 of which showed significant altered levels (p<0.01; fold-change>1.5) between patients and controls. Whilst four urinary proteins were commonly altered in both BTG and PTC patients, 14 were unique to either BTG or PTC. Amongst these, four proteins were further chosen for validation using immunoblotting, and the enhanced levels of osteopontin in BTG patients and increased levels of a truncated gelsolin fragment in PTC patients, relative to controls, appeared to corroborate the findings of the iTRAQ analysis.
CONCLUSION: The data of the present study is suggestive of the potential application of urinary osteopontin and gelsolin to discriminate patients with BTG from those with PTC non-invasively. However, this needs to be further validated in studies of individual urine samples.
SETTING: Cohort study.
PARTICIPANTS: Twelve biologically unrelated Malaysian-Chinese patients with congenital hypothyroidism were recruited in this study. All patients showed high thyrotropin and low free thyroxine levels at the time of diagnosis with proven presence of a thyroid gland.
PRIMARY OUTCOME MEASURE: Screening of the c.2268dup mutation in the TPO gene in all patients was carried out using a PCR-direct DNA sequencing method.
SECONDARY OUTCOME MEASURE: Further screening for mutations in other exonic regions of the TPO gene was carried out if the patient was a carrier of the c.2268dup mutation.
RESULTS: The c.2268dup mutation was detected in 4 of the 12 patients. Apart from the c.2268dup and a previously documented mutation (c.2647C>T), two novel TPO alterations, c.670_672del and c.1186C>T, were also detected in our patients. In silico analyses predicted that the novel alterations affect the structure/function of the TPO protein.
CONCLUSIONS: The c.2268dup mutation was detected in approximately one-third of the Malaysian-Chinese patients with thyroid dyshormonogenesis. The detection of the novel c.670_672del and c.1186C>T alterations expand the mutation spectrum of TPO associated with thyroid dyshormonogenesis.