Objective To determine the thyroid hormone concentrations in preschool children in the Kasin-Beck disease (KBD) endemic area so as to explore the etiology of KBD. Methods Children of 1-6 years old in Naidang village,Jinchuan county, Sichuan Province, China were included. Physical examination was performed, personal history and medical history were collected, and blood samples were drawn for the determination of thyroid hormones. Results Blood samples were successfully collected from 14 children. Of them, 57.14% showed decreased TT3 levels, and 85.71% demonstrated decreased FT3 levels. All children showed significantly lower TT3 and FT3 average levels than the reference average value (P lt;0.000 01). The TT4, FT4and TSH levels were within the normal range. Conclusion Most children in the KBD endemic area showed lower T3 levels, which may act as a key factor for cartilage hypogenesis. It is suggested that a decreased TT3 level be one of the indicators for the assessment of KBD preventative effect, early monitoring and diagnosis of preclinical or subclinical stage of KBD.
ObjectiveTo observe the transthyretin (TTR) gene mutation, protein and mRNA expression in patients with familial vitreous amyloidosis. MethodsSubjects were divided into three groups: (1) illness group: seven patients with familial vitreous amyloidosis. (2) No-illness group: 9 unaffected family members. (3) Control group: 9 healthy individuals in same area. Subjects' peripheral venous blood were collected and DNA were extracted, 4 exons of TTR gene were amplified by reverse transcription polymerase chain reaction(RT-PCR), the gene fragments were sequencing by the fluorescence labelling method. Serum TTR protein expression was detected by Western blot, and TTR mRNA in leukocyte was assayed by RT-PCR. Results4 exons of TTR gene of all samples were amplified, and DNA sequencing data showed that 7 patients and 3 subjects DNA from unaffected family members had mutated in the 3rd exon of 107th base, changing from G to C. Heterozygous mutation occurred in codon of the 83th amino acid in exon 3, namely, Gly83Arg, resulted in the change of GGC to CGC. The protein and mRNA expression of TTR was lower in illness group than no-illness group and control groups(P < 0.05). Compared with control group, TTR mRNA expression in unaffected family members groups was significant decreased(P < 0.05). ConclusionHeterozygous mutation occurred in codon of the 83th amino acid in exon 3, namely Gly83Arg, and suggested that Gly83Arg is connected with the change of TTR mRNA and protein expression.
ObjectiveTo analyze the thyroid hormone levels in patients with acute type A aortic dissection (ATAAD) and assess its clinical significance.MethodsWe included 88 patients with ATAAD who underwent surgical treatment in Beijing Anzhen Hospital between January 2018 and August 2018. Meanwhile, we extracted 187 blood samples of healthy people from our laboratory (Beijing Lab for Cardiovascular Precision Medicine, Beijing, China) as control group. Examining preoperative thyroid hormone levels and perioperative serum creatine for patients and examining thyroid hormone levels for healthy people. Based on difference in thyroid hormone levels between patients and healthy people, we divide patients into abnormal thyroid hormone groups and control groups, analyzing the relationship between thyroid hormone levels and variance of postoperative serum creatinine.ResultsPatients with ATAAD have lower total triiodothyronine (TT3), thyrotropin (TSH), free triiodothyronine (FT3) and higher free thyroxine (FT4) levels than healthy people (respectively, P<0.001, P<0.001, P<0.001 and P<0.001). What’s more, patients with ATAAD who had low TT3 before operation had higher elevation of postoperative serum creatinine and rate of acute kidney injury(P=0.019).CONCLUSIONSPatients with ATAAD have different thyroid hormone levels than healthy people, preoperative TT3 is associated with elevation of postoperative serum creatinine and occurrence of acute kidney injury. Thyroid function measurement should be a routine preoperative examination in patients with ATAAD.