OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

OBJECTIVE: To investigate the clinical effect the treatment of arthroscopy-assisted calcaneal spur resection combined with plantar fascia release and calcaneal decompression in the treatment of the patients with intractable calcaneal pain. METHODS: The clinical data of 50 patients with intractable heel pain from January 2016 to January 2019 were retrospectively analyzed, including 20 males and 30 females;aged from 40 to 68 years old with an average of (50.12±7.35)years old, the medical history ranged from 1 to 4 years. All patients underwent arthroscopy-assisted calcaneal spur resection combined with plantar fascia release and calcaneal decompression, and were followed up, the duration ranged from 24 to 60 months with an average of(42.00±3.28) months. All patients had obvious heel pain before surgery, and X-ray examinations often showed the presence of calcaneal spurs. In addition to the routine foot examination, the changes in the height and angle of the arch of the foot were also measured pre and post-operatively by X-ray, for the evaluation of clinical effect. The VAS system was used to evaluate the degree of foot pain;the AOFAS scoring system was used to comprehensively evaluate the foot pain, voluntary movement, gait and stability. RESULTS: The VAS decreased from (8.75±1.24) before surgery to (5.15±2.35) at 3 months after surgery, (4.07±2.53) at 6 months after surgery, and (3.95±2.44) at the last fllow-up(P<0.05). The AOFAS score increased from (53.46±4.17) before surgery to(92.46±2.53) at 3 months after surgery, (96.33±2.46) at 6 months after surgery, and (97.05±2.37) at the last follow-up(P<0.05). The arch height was (41.54±1.15) mm before operation and (41.49±1.09) mm after the operation, the difference was not statistically significant(P>0.05). The internal arch angle of the foot arch was (121±6)° before operation and (122±7)° after operation. The difference was not statistically significant(P>0.05). CONCLUSION Arthroscopy-assisted calcaneal bone spurs resection combined with plantar fascia release and calcaneal decompression exhibited great clinical effect for treating intractable heel.
Male ; Female ; Humans ; Adult ; Middle Aged ; Aged ; Heel/surgery* ; Heel Spur/surgery* ; Retrospective Studies ; Calcaneus/surgery* ; Foot Diseases ; Pain ; Endoscopes ; Treatment Outcome

The most reliable and convenient measurement method of tibial posterior slope(TPS) and its biomechanical relationship with posterior cruciate ligament (PCL) are still controversial. For X-ray measurement, it is recommended to use full-length lateral X-ray of the lower extremity in quatrous section, which has advantage of highly repeatable and common in the daily diagnosis and treatment process, but it is only applicable to patients with tibial rotation within 15°. When the rotation exceeds 30°, it is difficult to identify the inner contour of platform and is no applicable. If it is only used for daily diagnosis and treatment evaluation, when tibial rotation angle is less than 15°, lateral knee X-ray also has a certain reference significance, but the accuracy could not meet requirements of higher clinical research. For CT measurement method, it could correct tibial rotation, but using the fitting point to measure tibial posterior slope on three-dimensional CT reconstruction is only applicable to knee joint without degeneration, more osteophyte affects the way of using fitting point to determine the plane of tibia with real tibia platform conformity degree, have some limitations. For measurement of MRI, it could not only correct tibial rotation, but also minimize the effect of osteophytes by using tibial anatomical axis as the reference axis, which is a good measurement method. For the biomechanical relationship between tibial posterior slope and tibial posterior slope, increased tibial posterior slope indirectly alleviates tension of PCL through tibial anterior displacement or directly reduces load on posterior cruciate ligament in tibial osteotomies, suggesting a protective mechanism for tibial posterior slope;in total knee arthroplasty with cruciate ligament preserved, the size of tibial posterior slope will affect roll back mechanism of femur. When affected knee with PCL injury, it should be avoid to release then aggravate injury, and the stress could be alleviated by increasing tibial posterior slope appropriately. There has been no unified conclusion on the range of tibial posterior slope that is most beneficial to PCL. The natural tibial posterior slope is between 7 ° and 10°, which is considered to be the most beneficial to protection of PCL, but further studies are needed according to the differences in patients' bone status, surgical methods and so on.
Arthroplasty, Replacement, Knee/methods* ; Femur/surgery* ; Humans ; Knee Joint/surgery* ; Osteophyte/surgery* ; Posterior Cruciate Ligament/surgery* ; Tibia/surgery*

The human homologue of mouse progressive ankylosis protein(ANKH)is an inorganic pyrophosphate transport regulator,which regulates tissue mineralization by controlling the level of inorganic pyrophosphate.It plays an important role in the pathogenesis and development of bone and joint diseases,such as ankylosing spondylitis,craniometaphyseal dysplasia,and articular cartilage calcification.This review summarizes the progress of research on ANKH and the above-mentioned diseases.
Ankylosis ; Humans ; Hyperostosis ; Hypertelorism ; Joint Diseases ; Mice ; Mutation

OBJECTIVE: To explore the genetic basis for a pedigree affected with hereditary multiple osteochondroma (HMO). METHODS: Peripheral blood samples were collected from the proband and members of his pedigree with informed consent. Following extraction of genomic DNA, all coding exons and flanking intronic sequences (-10 bp) of the EXT1 and EXT2 genes were subjected to targeted capture and next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing. RESULTS: A heterozygous nonsense variant (c.1911C>A) was found in exon 10 of the EXT1 gene in the proband and his affected father but not in a healthy sister and normal controls. The variant was classified as a pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (PVS1+PM2+PP1). Bioinformatic analysis predicted that the c.1911C>A variant may be disease-causing via nonsense-mediated mRNA decay and anomalous splicing. CONCLUSION The c.1911C>A variant probably underlay the disease in this pedigree. Discovery of this variant enriched the variant spectrum of HMO.
Codon, Nonsense ; Exons/genetics* ; Exostoses, Multiple Hereditary/genetics* ; Heterozygote ; Humans ; Pedigree

Acquired Hyperostosis Syndrome/surgery* ; Humans ; Tonsillectomy

STUDY DESIGN: Retrospective study.OBJECTIVES: To compare the degeneration of sacroiliac joint (SIJ) following lumbar or lumbosacral fusion.SUMMARY OF LITERATURE REVIEW: The SIJ is adjacent to lumbosacral junction and its degeneration can be the potential cause of pain. However, the study addressing SIJ degeneration following lumbar or lumbosacral fusion is very limited.MATERIALS AND METHODS: From June 2002 to June 2012, 98 patients who underwent posterior decompression and posterolateral fusion were included in this study. The study group was divided into 2 groups according to the range of fusion. Group A had fusion to L5 and included 34 patients. Group B had fusion to S1 and included 64 patients. We evaluated the five years postoperative radiologic and clinical outcomes retrospectively.RESULTS: There was no statistically significant difference of bilateral preoperative subchondral sclerosis and osteophytes of the SIJ between group A and group B. However, group B revealed statistically significant subchondral sclerosis and osteophyte formation of the SIJ than group A on every radiographs after postoperative 1 year. In group B, the number of fusion segments and age were statistically positively correlated with the degeneration of the SIJ.CONCLUSIONS: Degeneration of the SIJ revealed more rapid and more severe progression in lumbosacral fusion group than in lumbar fusion group. The number of fusion segments and age were positively correlated with the degeneration of the SIJ in lumbosacral fusion group. Therefore, these facts should be taken into account when performing spinal fusion.
Decompression ; Humans ; Osteophyte ; Retrospective Studies ; Sacroiliac Joint ; Sclerosis ; Spinal Fusion

STUDY DESIGN: A cross-sectional study. OBJECTIVES: To provide reference data for the study and treatment of thoracic scoliosis. SUMMARY OF LITERATURE REVIEW: There have been no reports on the prevalence of thoracic scoliosis in Korea. MATERIALS AND METHODS: From August 2011 to October 2012, radiographs of patients under 80 years of age who underwent routine chest radiographs were retrospectively reviewed. Based on their age when the chest radiographs were obtained, the patients were divided into 8 groups. The prevalence and angle of the curve of thoracic scoliosis were investigated in each age group, and the prevalence of thoracic scoliosis according to sex, the direction of the curve, number of vertebrae in the major curve, the location and rotation of the apical vertebrae, and osteophyte location were examined. RESULTS: The prevalence of thoracic scoliosis was 2.4% (621 patients), and female patients (3.0%, 375 of 12471) showed a higher prevalence than male patients (1.8%, 246 of 13654) (p<0.001). Right curvature was present in 445 patients and left curvature in 176 patients. In each age group, the prevalence and degree of thoracic scoliosis were 1.1% (14.2°±3.2°), 2.3% (17.4°±7.7°), 2.5% (17.0°±8.9°), 1.9% (15.8°±5.9°), 1.3% (15.5°±6.6°), 2.1% (18.0°±13.6°), 2.9% (14.3°±3.6°), and 6.1% (16.2°±4.8°), respectively. The mean curvature in all scoliosis patients was 16.0°±7.0°. The angle of the curve was significantly different by sex (15.4°±7.1° for males, 16.8°±7.6° for females). The average curve angle of patients with thoracic scoliosis was 16.0°±7.0°, among whom it was 10°–20° in 533 patients, 20°–30° in 64, 30°–40° in 11, and over 40° in 13. CONCLUSIONS: This study could be used as a reference point for the study and treatment of thoracic scoliosis.
Cross-Sectional Studies ; Female ; Humans ; Korea ; Male ; Osteophyte ; Prevalence ; Radiography ; Radiography, Thoracic ; Retrospective Studies ; Scoliosis ; Spine ; Thoracic Vertebrae ; Thorax

An anterior cervical osteophyte is one of the causes of dysphagia. Surgical treatment is one of the treatment options available, and previous studies have suggested that it is an immediate and effective treatment. This paper reports a case of temporarily aggravated dysphagia after surgical treatment in a patient with anterior cervical osteophyte. A 75-year-old male complained of dysphagia for one year. A videofluoroscopic swallowing study (VFSS) revealed anterior cervical osteophytes at the C3 and C4 level, which resulted in decreased epiglottic folding and partial obstruction of the bolus passage. After he underwent osteophytectomy and anterior fixation, the post-operative VFSS showed an aggravation of dysphagia with prevertebral soft tissue edema. The major cause of dysphagia was attributed to the limitation of movement of the posterior pharyngeal wall and upper esophageal sphincter due to the increased prevertebral soft tissue thickness. In conclusion, surgery should be considered when a severe dysphagia is persistent after adequate conservative treatment in patients with dysphagia due to anterior cervical osteophytes, and patients at high risk of postoperative dysphagia might require swallowing rehabilitation.
Aged ; Cervical Vertebrae ; Deglutition ; Deglutition Disorders ; Edema ; Esophageal Sphincter, Upper ; Female ; Fluoroscopy ; Humans ; Male ; Osteophyte ; Rehabilitation

No abstract available.
Exostoses ; Fingers ; Korea