We conclude that the reported association between SCH and EMX2 mutations is not adequately supported by current data, and that diagnostic testing of EMX2 is not justified, as any results would be uninterpretable.
To determine the final diagnosis of patients with subclinical hypothyroidism (SCH), and to perform mutation screening of the thyroid peroxidase gene (TPO).
We therefore considered holoprosencephaly (HPE)-associated genes as potential SCH candidates and report for the first time heterozygous mutations in SIX3 and SHH in a total of three unrelated patients and one fetus with SCH; one of them without obvious associated malformations of midline forebrain structures.
We therefore considered holoprosencephaly (HPE)-associated genes as potential SCH candidates and report for the first time heterozygous mutations in SIX3 and SHH in a total of three unrelated patients and one fetus with SCH; one of them without obvious associated malformations of midline forebrain structures.
The R132CIDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing.
There were no significant differences of genotype frequencies between patients and controls at any of the analyzed SNPs (p > 0.05).The haplotypes ''A G C G'' (p = 0.002; OR, 1.533; 95% CI, 1.172-2.006) and "G A A G" (p = 0.014; OR, 0.576; 95% CI, 0.369-0.899) in PDE8B were observed to be significantly associated with SCH in pregnant women.
This study was set to examine the DUOX2 mutation spectrum and prevalence among Chinese CH and subclinical congenital hypothyroidism (SCH) patients and to define the relationships between DUOX2 genotypes and clinical phenotypes.
Interestingly, SBP (OR = 1.050; 95%CI 1.034-1.066; P = 0.000), DR (OR = 5.248; 95%CI 2.816-9.777; P = 0.000), SCH (OR = 2.256; 95%CI 1.184-4.299; P = 0.013), and TC (OR = 1.389; 95%CI 1.108-1.742; P = 0.004) were found to be independent risk factors for macroalbuminuria.
Age (62.56 ± 10.79 vs. 59.09 ± 10.82 years, P = 0.008), systolic blood pressure (138.80 ± 18.85 vs. 131.29 ± 16.97, P = 0.000), TC (5.22 ± 1.20 vs. 4.83 ± 1.03 mmol/L; P = 0.008), LDL-C (3.35 ± 0.96 vs. 3.06 ± 0.87 mmol/L; P = 0.007), creatinine (84.54 ± 47.05 vs. 74.49 ± 29.96 µmol/L; P = 0.01), urinary albumin excretion rate [18.6 (7.58-326.78) vs. 10.69 (5.79-40.8) µg/min; P = 0.001], and thyrotropin [4.92 (4.37-6.27) vs. 1.4 (0.92-2.09) μIU/mL; P = 0.000] were significantly higher in the SCH group; meanwhile, TBIL (12.05 ± 5.20 vs. 13.98 ± 5.32 µmol/L; P = 0.008), DBIL (2.54 ± 1.20 vs. 2.88 ± 1.17 µmol/L; P = 0.033), IDBIL (9.51 ± 4.62 vs. 11.10 ± 4.72 µmol/L; P = 0.013), and total glomerular filtration rate [46.96 (35-68.26) vs. 71.74 (50.13-83.36) mL/min; P = 0.000] were significantly lower in SCH patients.
Interestingly, SBP (OR = 1.050; 95%CI 1.034-1.066; P = 0.000), DR (OR = 5.248; 95%CI 2.816-9.777; P = 0.000), SCH (OR = 2.256; 95%CI 1.184-4.299; P = 0.013), and TC (OR = 1.389; 95%CI 1.108-1.742; P = 0.004) were found to be independent risk factors for macroalbuminuria.
Interestingly, SBP (OR = 1.050; 95%CI 1.034-1.066; P = 0.000), DR (OR = 5.248; 95%CI 2.816-9.777; P = 0.000), SCH (OR = 2.256; 95%CI 1.184-4.299; P = 0.013), and TC (OR = 1.389; 95%CI 1.108-1.742; P = 0.004) were found to be independent risk factors for macroalbuminuria.
Although developing T cells express thyroid-stimulating hormone receptor (TSH-R), the changes of T cell development in thymus in SCH have not been fully clarified.
SC or SCH significantly inhibited the levels of IL-6, tumor necrosis factor (TNF)-[Formula: see text], and IL-1[Formula: see text] in spleen of the OVA-sensitized mice.
SC or SCH significantly inhibited the levels of IL-6, tumor necrosis factor (TNF)-[Formula: see text], and IL-1[Formula: see text] in spleen of the OVA-sensitized mice.