OBJECTIVETo identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family.

METHODSDNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene.

RESULTSA single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls.

CONCLUSIONThe 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.

Androgen-Insensitivity Syndrome ; genetics ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Receptors, Androgen ; genetics ; Sequence Deletion ; genetics ; Young Adult

Objective A preliminary study of the safety and efficacy of the Pipeline embolization device(PED)for the treatment of vertebral artery dissecting aneurysm(VADA).Methods Clinical data of 21 patients with VADA treated with PED in the Department of Neurosurgery of the First Affiliated Hospital of Xinjiang Medical University from January 2019 to June 2023 were retrospectively collected,and the surgical approach,perioperative complications,and imaging results were recorded and followed up.Patients'prognosis was assessed by modified Rankin Scale score(mRS),and Kamran grading was used for imaging follow-up.Results Of the 21 patients,17 had unruptured aneurysms and 4 had ruptured aneurysms.A total of 22 PEDs were placed,of which 13 patients underwent PED placement alone and 8 patients underwent PED combined with coil embolization,with a technical success rate of 100% .Three patients with ruptured aneurysms had combined stenosis proximal to the aneurysm,and 1 patient with>50% stenosis received an additional Solitaire stent for in-stent posterior dilatation.Immediate postoperative Kamran grading was grade 1 in 16 patients,grade 2 in 1 patient,and grade 3 in 4 patients.There were 2 perioperative complications,including postoperative aneurysm rupture in 1 patient and severe pulmonary infection in 1 patient who eventually died.At the time of discharge,15 patients had an mRS score of 1,2 patients had a score of 2,1 patient had a score of 3,1 patient had a score of 4,and 2 patient had a score of 6.Eighteen patients were followed up with a median follow-up time of 12.5(6-30)months,of which 13 patients had an mRS score of 0,4 patients had a score of 1,and 1 patient had a score of 2.There were 2 patients with a Kamran grade of 2,4 patients with a grade of 3,and 12 patients with a grade of 4.Conclusion The surgical success rate and safety of VADA treatment with PED is high,but perioperative complications and postoperative care should not be ignored either and a large number of samples are still needed for further study in the future.