Anatomical Characteristics and Potential Gene Mutation Sites of a Familial Recurrent Patellar Dislocation

2021 ◽  
Author(s):  
Qi-hao Zhang ◽  
Yan Zhang ◽  
Rui-xuan He ◽  
Xin-guang Wang
Keyword(s):  
Knee Joint ◽  
High Frequency ◽  
Patellar Dislocation ◽  
Family Members ◽  
Patella Dislocation ◽  
Recurrent Patellar Dislocation ◽  
Anatomical Characteristics ◽  
Synonymous Mutations ◽  
Pathogenic Genes ◽  
Pathogenic Gene

Abstract Background Recurrent patellar dislocation is the result of anatomical alignment and imbalance of restraint of bone and soft tissue. To investigate the anatomical characteristics of the knee joint in a family of patients with recurrent patella dislocation, and to screen the possible pathogenic genes in this family by whole exon sequencing in 4 patients and 4 healthy subjects, so as to provide theoretical basis for the pathogenesis of this disease. Methods The data related to patella dislocation were measured by imaging data. The peripheral blood DNA of related family members was extracted for full exon sequencing, and then the sequencing results were compared with the human database. By filtering out synonymous mutations and high-frequency mutations, and then integrating single nucleotide non-synonymous mutations of family members, disease-causing genes were found. Results All patients in this family have different degree of abnormal knee anatomy, which is closely related to patella dislocation. The sequencing results of patients and normal persons in this patella dislocation family were compared and analyzed, and the data were filtered through multiple biological databases. Find HOXB9(NM_024017.4:p.Glu135Gly/c.404A>G),COL1A1(NM_000088.3:p.Ala1256 Thr/c.3766G>A),GNPAT(NM_014236.3:p.Asp519Gly/c1556A>G),NANS(NM_018946.3:p.Glu68Asp/c.204G>C),SLC26A2(NM_000112.3:p.Thr689Ser/c.2065A>T) are not synonymous mutations (MISSENSE). Through Sanger sequencing, HOXB9 and SLC26A2 genes were found to be the pathogenic genes of this family with recurrent patella dislocation. Conclusions The anatomical structure of the knee joint of patients with recurrent patellar dislocation in this family is obviously abnormal. HOXB9 mutation may be the high frequency pathogenic gene of recurrent patella dislocation in this family, while COL1A1, GNPAT, NAans, SLC26A2 gene may be the sporadical pathogenic gene.

scholarly journals Characteristics of Osteochondral Fractures Caused by Patellar Dislocation

2021 ◽  
Vol 9 (1) ◽  
pp. 232596712097464
Author(s):  
Mikko Uimonen ◽  
Ville Ponkilainen ◽  
Juha Paloneva ◽  
Ville M. Mattila ◽  
Heikki Nurmi ◽  
...  
Keyword(s):  
Knee Joint ◽  
Patellar Dislocation ◽  
Femoral Condyle ◽  
Case Series ◽  
Recurrent Dislocation ◽  
Lateral Femoral Condyle ◽  
Recurrent Patellar Dislocation ◽  
Significant Difference ◽  
Mri Scans ◽  
Osteochondral Fractures

Background: Literature describing the anatomic characteristics of osteochondral fractures (OCFs) in the knee joint after patellar dislocation is scarce. Purpose: To describe the patterns of OCFs in the knee joint after acute or recurrent patellar dislocation in a sample of patients from 2 orthopaedic trauma centers. Study Design: Case series; Level of evidence, 4. Methods: In this multicenter study, all patients who had International Classification of Diseases, 10th Revision, diagnostic codes S83.0 and M22.0 between 2012 and 2018 were screened. Of the 2181 patients with clinically diagnosed patellar dislocation, 1189 had undergone magnetic resonance imaging (MRI). Patients with diagnosed patellar dislocation and osteochondral fragment verified on MRI scans were included. Demographic and clinical data were collected from electronic patient records. OCF location and size were assessed from MRI scans. Results were further compared in subgroups by sex, skeletal maturity, and primary versus recurrent patellar dislocation. Results: An OCF was detected in 134 patients with injured knees, all of whom were included in the final analysis. It occurred in the patella in 63% of patients, in the lateral femoral condyle in 34%, and in both locations in 3%. The median OCF size was 146 mm2 (interquartile range, 105-262 mm2). There was no statistically significant difference in OCF size between patellar and lateral femoral condyle fractures. Patellar OCFs were more frequent in female than male patients ( P = .009) and were larger after primary than recurrent dislocation ( P = .040). Conclusion: OCFs were mainly located in the medial facet of the patella and in the lateral femoral condyle, with these locations accounting for approximately two-thirds and one-third of all OCFs, respectively. Proportion of patellar OCF was higher in female than in male. Patellar OCFs may be larger after primary than recurrent dislocation.

scholarly journals The Morphology of Patella changed significantly after Soft Tissue Correction for children with Recurrent Patella Dislocation

2020 ◽  
Author(s):  
Jinghui Niu ◽  
Qi Qi ◽  
Kuo Hao ◽  
Wei Lin ◽  
Kang Piao ◽  
...  
Keyword(s):  
Patellar Dislocation ◽  
Patella Dislocation ◽  
Transverse Diameter ◽  
Recurrent Patellar Dislocation ◽  
Unaffected Side ◽  
Femoral Trochlea ◽  
Affected Side ◽  
Wiberg Index ◽  
Patellar Morphology

Abstract Background: Although morphological improvement of femoral trochlea has been investigated in children with patellar dislocation after surgery, whether the patellar shape changed under the same condition is still unknown. The purpose of the study was to investigate the changes of patellar morphology in transverse plane following surgical correction of recurrent patella dislocation in children.Methods: A total of 22 patients with a mean age of 9.9 years (7 to 12) were included. All had unilateral recurrent patellar dislocation. The knees with recurrent patellar dislocation were treated with medial patellar retinaculum plasty and defined as the affected side. The contralateral knees with no symptom of patellar instability were considered as the unaffected side. All patients were treated between October 2014 and August 2018. Axial CT (Computed Tomography) scans were undertaken in all patients to assess the patella morphological characteristics on a particular axial image preoperatively and at the final follow-up.Results: There were not significant differences about patellar transverse diameter, thickness and Wiberg angle between affected side and unaffected side before surgery and at the last follow-up respectively ( The mean follow-up period: 28.0 ± 3.3 months). However, before surgery, the Wiberg-index in the affected side (0.74 ± 0.06) was significantly different from that in the unaffected side (0.64 ± 0.04). At the last follow-up, the Wiberg-index in the affected side (0.67 ± 0.05) and the unaffected side (0.65 ± 0.04) were not significantly different. Also, in the affected side, the Wiberg-index at the last follow-up was significantly lower than that before surgery (P < 0.05). The Wiberg-index in the unaffected side was not significantly different before surgery and at the last follow-up. Conclusion: The patellar morphology can change significantly after surgical procedures in children with patellar recurrent dislocation whose epiphysis is not closed.

scholarly journals The morphology of patella changed significantly after soft tissue correction for children with recurrent patella dislocation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Jinghui Niu ◽  
Qi Qi ◽  
Kuo Hao ◽  
Wei Lin ◽  
Kang Piao ◽  
...  
Keyword(s):  
Patellar Dislocation ◽  
Patella Dislocation ◽  
Transverse Diameter ◽  
Recurrent Patellar Dislocation ◽  
Unaffected Side ◽  
Femoral Trochlea ◽  
Affected Side ◽  
Wiberg Index ◽  
Patellar Morphology

Abstract Background Although morphological improvement of femoral trochlea has been investigated in children with patellar dislocation after surgery, whether the patellar shape changed under the same condition is still unknown. The purpose of the study was to investigate the changes of patellar morphology in transverse plane following surgical correction of recurrent patellar dislocation in children. Methods A total of 22 patients with a mean age of 9.9 years (7 to 12) were included. All had unilateral recurrent patellar dislocation. The knees with recurrent patellar dislocation were treated with medial patellar retinaculum plasty and defined as the affected side. The contralateral knees with no symptom of patellar instability were considered as the unaffected side. All patients were treated between October 2014 and August 2018. Axial CT (Computed Tomography) scans were undertaken in all patients to assess the patella morphological characteristics on a particular axial image preoperatively and at the final follow-up. Results There were not significant differences about patellar transverse diameter, thickness and Wiberg angle between affected side and unaffected side before surgery and at the last follow-up respectively (The mean follow-up period: 28.0 ± 3.3 months). However, before surgery, the Wiberg-index in the affected side (0.74 ± 0.06) was significantly different from that in the unaffected side (0.64 ± 0.04). At the last follow-up, the Wiberg-index in the affected side (0.67 ± 0.05) and the unaffected side (0.65 ± 0.04) were not significantly different. Also, in the affected side, the Wiberg-index at the last follow-up was significantly lower than that before surgery (P < 0.05). The Wiberg-index in the unaffected side was not significantly different before surgery and at the last follow-up. Conclusion The patellar morphology can change significantly after surgical procedures in children with patellar recurrent dislocation whose epiphysis is not closed.

Pathogenic Genes Selection Model of Genetic Disease based on Network Motifs Slicing Feedback

2019 ◽  
Vol 16 (5) ◽  
pp. 392-401
Author(s):  
Shengli Zhang ◽  
Zekun Tong ◽  
Haoyu Yin ◽  
Yifan Feng
Keyword(s):  
Genetic Disease ◽  
Drug Targets ◽  
Selection Model ◽  
Network Motifs ◽  
Gene Set ◽  
Pathway Network ◽  
Gene Pathway ◽  
Pathogenic Genes ◽  
Pathogenic Gene ◽  
Selection Of

Background: Finding the pathogenic gene is very important for understanding the pathogenesis of the disease, locating effective drug targets and improving the clinical level of medical treatment. However, the existing methods for finding the pathogenic genes still have limitations, for instance the computational complexity is high, and the combination of multiple genes and pathways has not been considered to search for highly related pathogenic genes and so on. Methods: We propose a pathogenic genes selection model of genetic disease based on Network Motifs Slicing Feedback (NMSF). We find a point set which makes the conductivity of the motif minimum then use it to substitute for the original gene pathway network. Based on the NMSF, we propose a new pathogenic genes selection model to expand pathogenic gene set. Results: According to the gene set we have obtained, selection of key genes will be more accurate and convincing. Finally, we use our model to screen the pathogenic genes and key pathways of liver cancer and lung cancer, and compare the results with the existing methods. Conclusion: The main contribution is to provide a method called NMSF which simplifies the gene pathway network to make the selection of pathogenic gene simple and feasible. The fact shows our result has a wide coverage and high accuracy and our model has good expeditiousness and robustness.

OUR EXPERIENCE IN TREATING PATELLAR DISLOCATION USING A MINIMALLY INVASIVE METHOD.

2021 ◽  
pp. 48-50
Author(s):  
Vladimir Semenov ◽  
Ruslan Baudunov ◽  
Erik Koyanbaev ◽  
Madi Zhanatuly ◽  
Almaskan Zhorabek
Keyword(s):  
Knee Joint ◽  
Minimally Invasive ◽  
Patellar Dislocation ◽  
Traumatic Dislocation ◽  
Invasive Method ◽  
Arthroscopic Operations ◽  
Positive Results

This article summarizes a little experience in the treatment of patellar dislocations by the arthroscopic method. In total, from 2018 to 2021, we performed 450 arthroscopic operations on the knee joint, of which the stabilization of the patella in case of dislocation was 7. Thus: in the case of primary traumatic dislocation, we performed 4 operations, with the usual - 3. Thus, carrying out arthroscopy, which allows you to restore the biomechanical axis with the elimination of patellar dislocation simultaneously or sequentially at the stage of treatment, allows you to get positive results.

scholarly journals Clinical Outcomes After Medial Patellofemoral Ligament Reconstruction With Suture Fixation of the Gracilis Tendon via Transosseous Tunnels

2020 ◽  
Vol 8 (2) ◽  
pp. 232596711990037
Author(s):  
Hangzhou Zhang ◽  
Mao Ye ◽  
Qingwei Liang
Keyword(s):  
Patellar Dislocation ◽  
Medial Patellofemoral Ligament ◽  
Case Series ◽  
Mpfl Reconstruction ◽  
Suture Fixation ◽  
Recurrent Patellar Dislocation ◽  
Patellar Tilt ◽  
Transosseous Suture ◽  
Patellar Tilt Angle

Background: Several fixation methods have been introduced in medial patellofemoral ligament (MPFL) reconstruction. However, the optimal management of patients with recurrent patellar dislocation remains controversial. Purpose: To present a case series with a minimum 2-year follow-up of 29 patients with recurrent patellar dislocation who underwent a new transosseous suture fixation technique for MPFL reconstruction. Study Design: Case series; Level of evidence, 4. Methods: From January 2014 through February 2016, a total of 29 patients with recurrent patellar dislocation for which the MPFL was reconstructed with transosseous suture patellar fixation were studied. All patients were available for follow-up (mean, 37.52 months; range, 26-48 months). The patellar attachment was fixed by transosseous patellar sutures. The International Knee Documentation Committee (IKDC) subjective knee score, Kujala score, Tegner score, range of motion, congruence angle, patellar tilt angle, and complications were assessed both pre- and postoperatively. Results: No recurrent dislocation was observed in any of the 29 patients for a minimum of 2 years. All outcome scores improved significantly from preoperatively to postoperatively: the average IKDC subjective knee evaluation score from 53 to 87, Kujala from 54 to 90, Lysholm from 50 to 89, and Tegner from 3 to 5 ( P < .001 for all). The congruence angle significantly decreased from 22° preoperatively to –3° postoperatively, and the patellar tilt angle (Merchant) decreased from 23° preoperatively to 5° postoperatively ( P < .001 for both). In total, 25 patients (25/29; 86.21%) were completely pain-free when performing activities of daily living at the last follow-up, and 27 patients (93.1%) rated themselves as very satisfied or satisfied with the results. Conclusion: In patients with chronic recurrent patellar dislocation, transosseous patellar suture fixation for MPFL reconstruction can significantly improve patellar stability and achieve good results at short-term follow-up.

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