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Objective: To explore the genetic etiology of recurrent hydatidiform mole (RHM) and provide accurate guidance for reproduction., Methods: Peripheral venous blood samples of the probands with RHM and members from 5 unrelated pedigrees were collected. Genomic DNA was extracted by using routine method, and whole exome sequencing was carried out to detect variants of RHM-associated genes including NLRP7 and KHDC3L. Sanger sequencing and real-time quantitative PCR (RT-qPCR) were used to validate the candidate variants and delineate their parental origin., Results: Homozygous or compound heterozygous variants of the NLRP7 gene were identified in four patients from three pedigrees, which included a homozygous deletion of exon 1 to 4 of NLRP7 in patient P1 and her elder sister, compound heterozygous variants of NLRP7 c.939delG (p.Q314Sfs*6) pat and c.1533delG (p.N512Tfs*4) mat in patient P2, and compound heterozygous variants of NLRP7 c.2389_2390delTC (p.A798Qfs*6) pat and c.2165A>G (p.D722G) mat in patient P4. All variants were interpreted as pathogenic or likely pathogenic according to the American College of Medical and Genomics (ACMG) guidelines. Among these, NLRP7 exons 1 to 4 deletion, c.939delG (p.Q314Sfs*6), c.1533delG (p.N512Tfs*4) and c.2389_2390delTC (p.A798Qfs*6) were unreported previously., Conclusion: Variants of the NLRP7 gene probably underlay autosomal recessive RHM in the three pedigrees, and definitive molecular diagnosis is beneficial for accurate genetic counseling. Above finding has also enriched the spectrum of the NLRP7 variants underlying RHM.

Objective: To investigate revision reasons and prosthesis selection of Crowe Ⅳ developmental dysplasia of the hip (DDH) after total hip arthroplasty (THA)., Methods: A clinical data of 14 patients (15 hips) with Crowe Ⅳ DDH, who underwent a revision hip arthroplasty between January 2008 and May 2018, was retrospectively reviewed. There were 1 male (1 hip) and 13 females (14 hips). The age ranged from 27 to 63 years (mean, 45.0 years). There were 7 cases of left hip, 6 cases of right hip, and 1 case of bilateral hips. The prosthetic interfaces of primary THA were metal-on-polyethylene (MOP) in 9 hips, ceramic-on-ceramic (COC) in 4 hips, ceramic-on-polyethylene (COP) in 1 hip, and ceramic-on-metal in 1 hip. The time from primary THA to revision was 3-204 months (mean, 65.0 months). The causes of revision included aseptic loosening in 7 hips, dislocation in 3 hips, periprosthetic joint infection in 2 hips, osteolysis in 1 hip, nonunion of osteotomy in 1 hip, and a small-angle of femoral anteversion in 1 hip. Preoperative Harris score was 54.1±17.8 and the range of motion (ROM) of flexion was (92.7±20.2)°. Preoperative X-ray films showed the acetabular bone defect in 11 hips and osteolysis of femoral side in 4 hips. During the revision, the prostheses with COP and COC interfaces were used in 5 hips and 10 hips, respectively. Both acetabular and femoral revisions were performed in 11 hips and only femoral revision was performed in 4 hips., Results: The mean operation time was 3.7 hours (range, 1.5-6.0 hours). The mean intraoperative blood loss was 940.0 mL (range, 200-2 000 mL). All patients were followed up 16-142 months (mean, 73.9 months). Postoperative X-ray films showed no difference in inclination and anteversion between primary THA and revision ( P >0.05). The height of rotation center and offset after revision were higher than those after primary THA, and the difference in offset was significant ( P <0.05). At last follow-up, the Harris score and ROM of flexion were 85.0±7.3 and (115.0±17.0)°, respectively, which were significantly higher when compared with those before revision ( t =8.909, P =0.000; t =4.911, P =0.000). Three hips underwent a re-revision operation. All protheses were fixed well and no radiolucent line, loosening, or subsidence was observed at last follow-up., Conclusion: The most common reason for revision in patients with Crowe Ⅳ DDH after THA was aseptic loosening. Due to high activity demand of this population, the prosthesis with MOP interface should be prevented and the prosthesis with COC interface could be alternative. Metal block, cup-cage, and reinforcement ring were reasonable solutions for reconstruction of acetabulum with severe bone defects and have satisfactory effectiveness. S-ROM prosthesis should be the preferred stem for neither primary THA or revision.

Objective: To evaluate short-term effectiveness of revision total knee arthroplasty (TKA) with porous-coated metaphyseal Sleeve and MBT implant., Methods: A clinical data of 23 patients (24 knees) who underwent revision TKA by using porous-coated metaphyseal Sleeve combined with MBT implant between March 2015 and April 2017 was retrospectively analyzed. There were 8 males (8 knees) and 15 females (16 knees). The age ranged from 48 to 85 years (mean, 65.4 years). The cause of revision TKA included infection in 14 knees, aseptic loosening in 8 knees, instability in 1 knee, and stiff knee in 1 knee. Bone defects were classified according to the Anderson Orthopaedic Research Institute (AORI) bone defect classification. The femoral defect was rated as type ⅡA in 5 knees, type ⅡB in 17 knees, and type Ⅲ in 2 knees; the tibial defect was rated as type ⅡA in 2 knees, type ⅡB in 20 knees, and type Ⅲ in 2 knees. The mean time between primary TKA and revision TKA was 30.6 months (range, 6-86 months). The preoperative range of motion (ROM) was (56.0±24.9)°. The preoperative Hospital for Special Surgery (HSS) total score was 41.9±14.2; and the pain and function scores were 8.5±5.2 and 33.4±13.5, respectively., Results: All patients were followed up 12-39 months (mean, 25.6 months). The mean operation time was 2.2 hours (range, 1.6-2.9 hours). The mean intraoperative blood loss was 580 mL (range, 400-1 000 mL). There were 2 knees (8.3%) of intraoperative fracture associated with Sleeve insertion and 1 knee (4.2%) of acute postoperative infection at 25 days after revision TKA. All incisions healed by first intention. No deep venous thrombosis of lower extremity occurred. X-ray film showed that all implants were stable. At last follow-up, slight discomfort after exercise occurred in 4 knees (16.7%); end-of-stem pain in the tibia occurred in 1 knee (4.2%). The ROM was (114.6±5.1)°, which had significant improvement compared with the preoperative result ( t =11.698， P =0.000). The HSS total score (89.0±10.9), pain score (26.9±6.6), and function score (62.1±5.8) also had significant improvement compared with the preoperative results ( t =15.616, P =0.000; t =12.522, P =0.000; t =10.076, P =0.000)., Conclusion: The porous-coated metaphyseal Sleeve combined with MBT implant in revision TKA has a significant improvement in short-term effectiveness and no signs of implant loosening.

Objective: To evaluate the effectiveness of total hip arthroplasty (THA) combined with subtrochanteric osteotomy in the treatment of Crowe type Ⅳdevelopmental dysplasia of the hip (DDH)., Methods: Between April 2008 and June 2016, 71 patients with unilateral Crowe type Ⅳ DDH were treated with THA. Of 71 cases, 44 were performed with subtrochanteric osteotomy (osteotomy group) and 27 were performed without subtrochanteric osteotomy (non-osteotomy group). There was no significant difference in gender, age, body mass, height, body mass index, affected side, and preoperative Harris score between 2 groups ( P >0.05). The complications were recorded and the effectiveness was assessed by Harris score. Besides, the femoral dislocation height and the settling depth of sleeve were measured in the pelvic anteroposterior X-ray film pre- and post-operatively., Results: Osteotomy group was followed up 12-90 months (mean. 34.77 months), and non-osteotomy group was followed up 12-79 months (mean, 34.33 months). There was no significant difference in follow-up time between 2 groups ( t =-0.088, P =0.930). There was 11 cases of intraoperative or postoperative complications in osteotomy group, and 3 cases of postoperative complications in non-osteotomy group. Among the osteotomy group, 1 case had nonunion due to infection and received revision after 20 months. No loosening or dislocation of the implant occurred in both 2 groups. Significant differences were found in femoral dislocation height and settling depth of sleeve between 2 groups ( t =-8.452, P =0.000; t =6.783, P =0.000). Moreover，the osteotomy length was not correlated with the settling depth of sleeve ( r =-0.038, P =0.806). At last follow-up, there was no significant difference in Harris score between 2 groups ( t =-1.160, P =0.254)., Conclusion: THA combined with subtrochanteric osteotomy can provide a favorable outcome for treating Crowe type Ⅳ DDH. Furthermore, patients with higher femoral dislocation and severely narrow femoral proximal canals are prone to be peformed with subtrochanteric osteotomy.