Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients. The approach uses symptoms, signs, various medical examination and laboratory results, and other relevant medical information. In the clinical diagnosis and medical research of rare bone diseases, deep phenotyping plays a pivotal role. The realization of precision medicine primarily comprises three key dimensions: deep phenotyping, stratified medicine, and targeted therapy. The deep phenotyping is the basis for the latter two. Deep phenotyping not only facilitates fine subtyping of diseases, but also allows for the in-depth understanding of genetic data. The use of deep phenotyping requires stand- ardized terminology and specific procedures. Moreover, deep phenotyping shows substantial potential using the application of artificial intelligence technology particularly when combining with multi-omics techniques.

Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extremely rare, with a global incidence of less than one in a million among children. In this multidisciplinary consultation, we present a case of a 21-year-old young female patient having multisystemic involvement since early childhood. She was presented with multiple joint swelling, skin lesions, increased eye discharge, and accompanied by hypertension and arterial abnormalities, and received a diagnosis of uveitis. The patient had been receiving steroid treatment since the age of 6 and has tried various medications, with some improvement in joint swelling and ocular symptoms. Through this rare disease multidisciplinary consultation, we aim to provide guidance in the molecular diagnosis of the patient, multisystem assessment, and the selection and formulation of treatment plans. Additionally, we hope that by reporting this case, clinical physicians can gain a better understanding of the diagnosis and comprehensive treatment strategies for Blau syndrome, thereby improving the management and treatment of rare diseases.

There are over 6000 rare diseases in the world, affecting more than 300 million people. Early and precise diagnosis of rare diseases has always been the goal in clinical medicine. Emerging computer vision technology now greatly enhance medicine and healthcare and shows the potential in assisting the diagnosis and treatment for rare diseases. The technology can be a useful tool for extracting disease-relevant patterns from medical imaging. However, the effectiveness of its application depends on the complexity of the medical cases. In this paper, we summarize the challenges and emerging solution for the application of computer vision in diagnosis, rehabilitation as well as management of rare musculoskeletal diseases.

Objective:To understand the current status of knowledge, attitude and practice of exercise rehabilitation nursing of clinical nurses in ClassⅢ Grade A hospitals in China.Methods:The convenient sampling method was adopted to conduct an online survey of 9 091 nurses from 31 Class Ⅲ Grade A hospitals in 31 provinces, municipalities and autonomous regions by using a self-designed questionnaire on Nurses' Knowledge, Attitude and Practice of Exercise Rehabilitation from May to July 2019. There were 34 items in the questionnaire, which mainly included the basic information of the survey objects, the knowledge and skills of sports rehabilitation nursing that nurses needed to master, the willingness of nurses to provide sports rehabilitation guidance and the current status of clinical implementation. A total of 9 091 questionnaires were distributed in this study, and the effective response rate was 100%.Results:Among the 9 091 nurses, 3 728 nurses (41.0%, 3 728/9 091) and 3 749 nurses (41.2%, 3 749/9 091) respectively indicated that they had not received relevant courses or skills training in school. 8 565 nurses (94.2%, 8 565/9 091) thought it was important to provide sports rehabilitation guidance, but they lacked the corresponding guidance ability, motivation and energy. In practice, 8 493 nurses (93.4%, 8 493/9 091) would provide suggestions and guidance related to sports rehabilitation to patients, mainly based on departmental nursing routine, relevant training, personal experience and literature.Conclusions:Clinical nurses in ClassⅢ Grade A hospitals in China have a positive attitude to participate in the exercise rehabilitation guidance of patients, but the level of knowledge and skills is low, and the behavior of rehabilitation guidance needs to be standardized. In the future, it should be further strengthened in terms of professional training, personnel training and related guidelines and standard construction.

Objective:To study the orthopedic treatment strategy for hemophilia complicated with musculoskeletal disorders as well as the peri-operative consumption of clotting factor.Methods:Total 338 orthopedic surgeries were performed for 261 patients, average age of 30.6 y (6-65 y) , with hemophilia between January 1996 and December 2019 at our institute. Two hundred and twenty-six patients presented with bleeds within the joints. Sixty-one patients presented with intramuscular bleeds, 45 presented with hemophilic pseudotumors, and six presented with miscellaneous complaints. Strategy of clotting factor replacement therapy was designed as per differences in the level of the operation procedure. Information regarding clinical manifestation, operative strategy, clotting factor consumption, and re-operation for complications was retrospectively recorded. The costs for multiple joint procedure and single joint procedure were studied.Results:We found that 270 of the 338 surgical procedures were major surgical procedures (79.9%) . There were 203 procedures of joint arthroplasty (60%) . Fourteen patients underwent reoperations for local recurrence (4.2%) . The average factor Ⅷ consumption before the surgery was 44.4 ± 8.1 IU/kg. The average FⅧ consumption within postoperative 2 weeks was 40 962 IU (647±177 IU/kg) . Seven type A hemophilic patients developed F Ⅷ inhibitor following the surgical procedure, with an average level of 13.7±11.2 BU/mL. Sixty-eight patients underwent multiple joint procedures under one anesthesia session (26%) . There was no significant difference in the factor consumption between the multiple joint procedure and single joint procedure.Conclusions:Surgical treatment was found to be effective for hemophilic arthropathy and lesion of the musculoskeletal apparatus, with the clotting factor replacement therapy. Multiple joint procedures under one anesthesia were more cost effective for patients with hemophilia, with less factor consumption than staged single joint procedure.

Objective: To evaluate the feasibility of the Estimation of Physiologic Ability and Surgical Stress (E-PASS) system to predict peri-operative risk in degenerative scoliosis patients scheduled for spinal surgery. Methods: Clinical data of 227 cases with degenerative scoliosis (Male∶Female=57∶170, Mean age=66.2±7.7 years), who accepted the operation of instrumentation and fusion in our hospital from January 2013 to July 2017, were retrospectively reviewed according to the E-PASS system, including peri-operative complications. Both hospital stayand post-operative hospital staywere compared between the groups with and withoutthe complications using t test. All E-PASS scores, including Preoperative Risk Score (PRS), Surgical Stress Score (SSS) and Comprehensive Risk Score (CRS), were analyzed between the two groups using Mann-Whitney Utest.The relationship between complications and PRS, SSS and CRS were analyzed using Spearmancorrelation analysis. The predictiveaccuracy of PRS, SSS and CRS were analyzed using the area under the receiver operating characteristic (ROC) curve (AUC). Results: There were a total of 47 patients (20.7%) suffering peri-operative complications, including 27 cases (11.9%) with complications at surgical sites and 23 cases (10.1%) with complications at non-surgical sites. Both hospital stay (t=-4.722, P<0.001)and post-operative hospital stay (t= -4.867, P<0.001) were increased because of the complications. All E-PASS scores, including PRS (P=0.005), SSS (P=0.003) and CRS (P<0.001) were significantly higher in patients with peri-operative complications and they were linearly correlated with the overall incidence of the complications(ρ=0.185-0.259). In particular, PRS was correlated with complications at non-surgical sites (ρ=0.162) and SSS with surgical site complications(ρ=0.162). The area under the receiver operating characteristic curve (AUC) for PRS and SSS was higher in patients with complications at non-surgical and surgical sites (AUC=0.655 and 0.650), respectively.The AUC for CRS exhibited good predictive power for both types of complications (AUC=0.662 and 0.631). Conclusion The peri-operative morbidity of spinal surgery for degenerative scoliosis was relatively higher. The E-PASS system could correctly predict the morbidity.

Objective To evaluate the biomechanical characteristics of 4 fixation methods (single reconstruction plate,dual reconstruction plates,single cannulated screw and dual cannulated screws) in the treatment of pubic symphysis disruption.Methods Miniature spiral CT scans were performed on the complete pelvis in 5 healthy volunteers.The primary two-dimensional CT scan data at Dicom format were imported into software Mimics 15.0 for three-dimensional reconstruction of bilateral hips and sacrums.The finite element model of skeletal pelvis was obtained by grid partitioning and assignment using software Abqus 6.13.Models of pubic symphysis disruption were simulated by cutting off the unilateral sacroiliac ligament,sacral spine ligament,sacral tuberosity ligament,pubic ligament and pubic arch.Four implants(single reconstruction plate,dual reconstruction plates,single cannulated screw and dual cannulated screws) were simulated and emplaced onto the models according to standard surgical procedures.Compressive and rotational loads were implemented in all models for finite element analysis.The biomechanical properties were recorded and analyzed,including construct stiffness,micromotion of the pubic symphysis and yon Misses stress.Results Under vertical load,the space of pubic symphysis disruption ＞ 25 mm.The vertical stiffness and rotational construct stiffness of the pelvis decreased significantly from 442.738 ±29.946 N/mm and 10.118 ± 1.432 N · m/Deg in the normal group to 14.754 ±0.876 N/mm and 0.328 ±0.119 N · m/Deg,respectively.Dual reconstruction plates and dual cannulated screws displayed the best vertical tensile strength;their construct stiffness achieved 117.647 ±9.193 N/mm and 131.443 ±4.348 N/mm,respectively.Under anti-rotation load,dual cannulated screws displayed the best performance because they rebuilt 68.6％ of the whole structural stiffness.For the local stability of the pubic symphysis,dual reconstruction plates showed a strong local anti-rotation capability and dual cannulated screws a good local anti-tensile capability.The displacement in the dual cannulated screws group was only-0.240 ±0.119 mm under vertical load while the angular displacement in the dual reconstruction plates group only 0.218°±0.182°.Single reconstruction plate endured the maximum yon Misses stress which was obviously concentrated.Conclusion Dual cannulated screws may have biomechanical advantages for treatment of pubic symphysis disruption.

Congenital vertebral malformation (CVM) is a congenital vertebral structural deformity caused by abnormal somitogenesis during embryonic development, of which the reason lies in gene mutation or abnormal regulation of the genes that coordinate somitogenesis during embryonic period. ICVAS had proposed a new classification algorithm for CVM, which facilitated exploration for its genetic etiology. Genomic Copy Number Variation (CNV) is a kind of DNA mutation, which is important for human evolution, phenotype polymorphism and diseases. Series of advances have been made on genetic causes of CVM, especially on CVM caused by CNV. CNVs of chromosome 16p11.2, 10q24.31, 17p11.2, 20p11, 22q11.2 and a few other regions are associated with CVM, indicating that gene dosage may play important roles in the development of the spinal cord.
DNA Copy Number Variations ; Gene Dosage ; Humans ; Mutation ; Polymorphism, Genetic ; Spine ; abnormalities

OBJECTIVETo determine the postoperative complications of primary total knee arthroplasty (TKA) within 30 postoperative days, and the different causes for revision surgery during follow-up.

METHODSBetween January 2001 and December 2012, a total of 1 920 patients underwent 2 779 primary TKA with fixed bearing platform in Peking Union Medical College Hospital, with 323 for male and 1 607 for female. The revision surgery at index time and the hemophiliac arthropathy were excluded for this study. The average age was (66 ± 9) years (from 25 to 86 years).Osteoarthritis accounted for 1 720 cases (89.58%), rheumatoid arthritis for 168 cases (8.75%), ankylosing spondylitis for 12 cases (0.63%), secondary arthritis for 20 cases (1.04%). The postoperative complications with 30 postoperative days and revision surgery during follow-up were recorded.

RESULTSFollow-up was concluded at December 2013. Totally, 1 854 patients (2 693 knees) were successfully followed-up.Forty-one patients experienced systemic complication within 30 postoperative days, with the rate of 2.21%. The most common reasons of systemic complication were the respiratory complication and cardiovascular complication in origin, with the rate of 0.49% (9/1 854) and 0.38% (7/1 854) respectively. The average rate of deep venous thrombosis in this group was 3.02% (56/1 854). The local complication rate within 30 days was 1.29% in this group. Totally 59 knees experienced the revision surgeries during average 67 months follow-up. The most common causes for revision surgery in relative values were septic loosening, with the rate of 1.19% (32 in 2 693 knees), followed by postoperative stiffness, with the rate of 0.37% (10 in 2 693 knees).

CONCLUSIONSThe most common reasons of systemic complication with 30 postoperative days after primary TKA procedure are the respiratory complication and cardiovascular complication in origin. The most common reason for revision surgery during mid-term follow-up for primary TKA is septic loosening.

Aged ; Aged, 80 and over ; Arthritis, Rheumatoid ; Arthroplasty, Replacement, Knee ; Female ; Follow-Up Studies ; Humans ; Knee ; Knee Prosthesis ; Male ; Middle Aged ; Osteoarthritis ; Postoperative Complications ; Postoperative Period ; Reoperation ; Spondylitis, Ankylosing

China ; Forecasting ; Orthopedic Procedures ; trends ; Orthopedics