A genetic association study of tryptophan hydroxylase 1 gene (TPH1) and arylalkylamine N-acetyltransferase gene(AANAT) with adolescent idiopathic scoliosis (AIS) in Han Chinese.
A series of 42 consecutive women (mean age 40.5 years; range 27-63 years) underwent conservative (cone) treatment of AIS and were prospectively followed up for a mean of 40 months (median 42 months), using colposcopy, PAP smear, biopsy and HPV testing (with hybrid capture II) repeated at 6-month intervals.
The plasma ccf n-DNA levels of both GAPDH and ACTB were significantly decreased in AIS patients compared with those in controls, while the plasma ccf mt-DNA levels did not changed.
Here we investigated ADAMTS13 in 208 pediatric patients with arterial ischemic stroke (AIS) and 125 population-based control children in a frequency-matched case-control study.
Although intronic SNPs associated with AIS didn't influence GPR126 mRNA alternative splicing, there was a strong association of rs7755109 A > G with decreased GPR126 mRNA level and protein levels.
Further RNA detection found that exon6-included transcripts of GPR126 (GPR126-exon6<sup>in</sup>) were significantly higher expressed in the convex side of AIS patients.
Patients with AIS were classified into three groups according to the genotypes of each single-nucleotide polymorphism, and one-way analysis of variance test was used to compare GPR126 expression among different groups and genotypes.
We genotyped SNPs of GPR126 gene around exon 6 and exon 25 in 131 Chinese AIS patients and 132 healthy controls and provided evidence that SNP rs41289839 G>A is strongly associated with AIS susceptibility.
RNA and protein analyses showed that in cancellous bone, higher RANKL/OPG and adipoR1 levels and lower runx2 levels were observed, and in cartilage, higher adipoR1 and IL6 levels were observed in AIS.
Moreover, the major differential plasma proteins related to AIS were Fibronectin 1 (FN1), voltage-dependent anion channel 1 (VDAC1), Ras homolog family member A (RHOA), and AHNAK nucleoprotein (AHNAK).
In adult patients with Sertoli-cells-only syndrome (SCOS) and androgen insensitivity syndrome (AIS), high level of AMH expression is detected in Sertoli cells due to defect of androgen/AR signaling.
We retrospectively analyzed the prospectively collected data of 84 patients with AIS treated with MIS technique using two or three coin hole size incisions and a muscle-splitting approach.
AIS incidence rates decreased significantly in the 21-24 year age group (annual percent change [APC] overall: -22.1%, 95% CI: -33.9 to -8.2; APC among screened: -16.1%, 95% CI: -28.8 to -1.2), but did not decrease significantly in any older age group.
We included 77 patients with Lenke 5 AIS who underwent ASF (n = 40) with a single rod with structural cages or PSF (n = 37) with pedicle screw instrumentation.
Therefore, qRT-PCR of APOD messenger RNA transcription in primary cultures of labioscrotal skin fibroblasts is a promising tool for assessing AR function, potentially allowing a function-based diagnostic evaluation of AIS in the future.
We demonstrate that recovery of AIS was unfavourably associated with variants of BDNF and CYP2C19 genes whilst recovery of ICH was unfavourably associated with APOE4 gene.