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   Table of Contents - Current issue
July-September 2019
Volume 3 | Issue 3
Page Nos. 239-316

Online since Thursday, August 8, 2019

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Research education: Is it an option or necessity? p. 239
Asdrubal Falavigna, Khalid I Khoshhal
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Dystrophin-associated muscular dystrophies: Learning from genetics to guide therapeutics p. 241
Naif A.M. Almontashiri
Dystrophin-associated muscular dystrophies represent an X-linked group of disorders, with spectrum of clinical phenotypes caused by mutations in the Duchenne muscular dystrophy (DMD) gene. Based on the genotype and predicted impact of the mutations on the function and expression of dystrophin, the clinical phenotype ranges from severe-to-mild muscular diseases, namely DMD, Becker muscular dystrophy, and dilated cardiomyopathy. Diagnosis, prediction of severity, and management of dystrophinopathies are largely based on the type of mutations and their impact on the dystrophin expression or function. In this review, we highlight the clinical and molecular etiologies and spectrum of the dystrophin-associated muscular dystrophies. We provide an overview on the molecular testing approach for the molecular diagnosis of cases with suspicion of or clinical diagnosis of dystrophinopathies. Finally, we provide an updated summary of the current therapeutic advances using gene therapy and editing technologies to treat or mitigate dystrophin-associated muscular dystrophies.
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Genetics of developmental dysplasia of the hip: Recent progress and future perspectives p. 245
Jamil A Hashmi, Sulman Basit, Khalid I Khoshhal
Developmental dysplasia of the hip (DDH) is the most common congenital orthopedic disorder in infants. DDH is a heterogeneous disorder, and the exact pathophysiology is incompletely understood; however, several environmental as well as genetic factors have been identified as an underlying player in its pathogenesis. Involvement of genetic factors in the pathogenesis is evident from the fact that DDH occurrence has been observed in families with multiple affected individuals. Here, we reviewed the current literature on DDH, specifically concentrating on the genetic aspects of isolated (nonsyndromic) form of DDH. It is observed that genetic association studies, as well as linkage study designs, have been used to identify the extent of involvement of genetic factors in DDH pathogenesis. Variants in genes involved in joint development and chondrogenesis including HOXD9, ASPN, HOXB9, TGF-Beta 1, PAPPA2, DKK1, and GDF5 genes have been identified as associated with DDH through genetic association studies. Moreover, mutations in CX3CR1 and TENM3 have been identified using linkage analysis and exome sequencing. Although various approaches including association studies, linkage analysis, and targeted sequencing have been used to detect genetic factors underlying DDH, structural genetic variants underlying DDH have not been explored. Therefore, we propose that copy number variation analysis and interactome studies (interaction analysis using gene and protein data using molecular interaction search tools) can help in identifying new DDH-associated genes.
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Can we use creatine kinase muscle type as a potential marker for muscle viability in mangled extremities? A preliminary evaluation of its applicability and a literature review p. 254
Vishal Kumar, Rohit Kansal, Rajender K Kanojia, Kim Vaiphei, Mandeep S Dhillon
Objectives: Increased expression of serum creatine kinase muscle type (CK-MM) in muscle overuse or injury has been documented in many situations. However, the expression of CK-MM and its correlation with the extent of traumatic damage to skeletal muscle tissue has not been explored. We studied the pattern of expression of CK-MM in substantially damaged muscle tissue and attempted to correlate its expression with the extent of muscle damage. Methods: At level 1 trauma center, 15 patients with mangled lower limb were prospectively evaluated. All patients underwent primary amputation (mangled extremity severity score ≥7) using specific criteria. Muscle tissue samples were obtained intraoperatively from 3 different zones (chosen arbitrarily based on clinical parameters of muscle viability, Zones A, B, and C) for all patients. Samples were evaluated by hematoxylin and eosin (H and E) staining and immunohistochemistry (IHC) staining with polyclonal CK-MM antibody. Results: H and E staining correlated with the clinical extent of muscle death in Zones A, B, and C; the percentage of viable muscle fibers was 6.7% in Zone A, 20% in Zone B, and 73% in Zone C. Least CK-MM expression was noted in muscle tissues on IHC in Zone A (most necrotic area) and most in Zone C (most viable area). The score developed by us corroborated with the extent of muscle damage and viability. Conclusion: IHC staining for CK-MM can be used as a definite biomarker of muscle integrity and can be used as an adjunct to clinical evaluation to help define limb viability as well as levels of amputation when that is required.
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Non-technical training in orthopedic surgery: An unrecognized need p. 260
Khalid H Alzahrani, Ahmad M Elsheikh, Sohail S Bajammal, Wael S Taha, Miriam Uhlman
Objectives: Surgical safety has become a raising concern over the past few decades. Many studies have shown that it is correlated to nontechnical performance rather than clinical expertise, and it can be improved if nontechnical competencies are combined with technical training in the surgical profession. The primary purposes of this study were to assess and prioritize the perceived needs of orthopedic surgeons for nontechnical skills for orthopedic surgeons in correlation to years of experience. Methods: An online survey was sent to 200 AOTrauma members in the Middle East clearly stating the study purposes and volunteer participation. A 5-point Likert scale was used to collect surgeons' ratings of the selected nontechnical topics. Results: One-hundred and nine of 200 (54.5%) invited participants responded. More than half (65.1%) being surgeons with >10 years of experience. The majority (92%) of respondents emphasized the importance of nontechnical skills training for orthopedic surgeons. Of the enlisted topics, professionalism and patient privacy scored the highest priority for junior surgeons, while more experienced surgeons ranked patient safety and teamwork as their top two desired topics. An interesting finding was that medicolegal training was rated as an increasing need as more surgical experience was gained. Conclusions: This study highlights the demand for nontechnical skills training from the orthopedic trauma surgeons' perspective. The results showed that topics such as patient safety essentials, professionalism, teamwork, and medicolegal issues came on the top of the list. Addressing this demand by creative and specialty-focused nontechnical skills courses will help to improve patient care.
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How do Saudis choose their surgeons? A Cross-sectional study in Riyadh, KSA p. 265
Abdullah S Alsaqry, Sager H Alruwaili, Osama S Alsaqry
Objectives: Even though there has been much research regarding which factors influence patients' choice of healthcare providers, only a restricted number of them have examined why patients choose their surgery providers. This study attempts to answer that question with the Saudi context in mind. Furthermore, it compares the opinions of those who visited private and governmental hospitals to achieve a more nuanced analysis. This information will allow surgeon providers with an opportunity to optimize their delivery based on the factors that influence Saudi healthcare choices. Methods: A self-administered questionnaire was administered to 393 patients who came to be evaluated for any number of operations at surgical clinics, either private or governmental hospitals, throughout Riyadh, KSA. The questionnaire consisted of thirty-nine items, which utilized a five-point Likert scale. It was used to assess the patients' level of understanding of the seven-recognized clinical and nonclinical metrics, which patients are known to consider when choosing surgical providers as well as examine the level of importance that patients gave to a number of other pertinent factors such as patients' ability to effectively find and utilize quality information. Results: Patients rated physician manner (average Likert; 4.5) and customer service (average Likert; 4.2) as most important in their selection of surgical provider. Despite the expressed importance of surgeon and hospital quality, only 63.6% of patients were able to find useful information to compare outcomes among surgeons and 64.7% for hospitals. Conclusions: Physician manner and customer service were the most important considerations for patients when choosing a surgical provider in Riyadh, KSA. There were only a few significant differences between the opinions given by private and governmental hospital patients.
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Long-term outcome of giant cell tumors around the knee with associated pathological fractures treated by curettage and cementation p. 273
Walid A Ebeid, Wessam G Abo Senna, Mostafa S Mohamed, Bahaa Z Hasan, Baher A Kaissar, Ismail T Badr, Mohamed K Mesregah
Objectives: The management of giant cell tumor (GCT) lesions around the knee is challenging. This study aimed to investigate the long-term outcome of treating GCTs around the knee with associated pathological fractures by curettage and adjuvant cementation with the use of high-speed burr. Methods: Fifty patients with a mean age of 28.3 years were included in the study. The tumor was located in the distal femur (40 patients) and proximal tibia (10 patients). Eighteen patients were Grade II Campanacci, whereas 32 patients were Grade III. The mean follow-up period was 65 months. Twenty-nine patients (58%) underwent extended curettage and bone cement. Twenty-one patients (42%) underwent extended curettage, bone cement, and internal fixation. High-speed burr was used in 45 patients (90%). Bone graft was used in 8 patients (16%). Functional evaluation was done using the Musculoskeletal Tumor Society (MSTS) scoring system for the lower extremity. Results: The overall MSTS score was excellent in 42 patients (84%), good in 5 patients (10%), fair in 2 patients (4%), and poor in 1 patient (2%). The overall local recurrence rate was 12% (6 cases) and a 10% complication rate. There were no cases of fracture nonunion or distant metastasis. Conclusions: GCTs around the knee with associated pathological fractures at diagnosis can be treated with extended curettage using high-speed burr and adjuvant cementation with favorable functional long-term outcome.
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Prevalence of neck–shoulder pain and low back pain among high school students in Riyadh, Saudi Arabia p. 279
Rawaf K Al Rawaf, Mohammed M Zamzam, Osama A Al Rehaili, Adel F Al Shihri, Mohammed S Abunayan, Abdullah A Al Dhibaib, Abdullah F Al Jafar, Abdulrahman F Al Barakah
Objectives: Neck–shoulder pain (NSP) and low back pain (LBP) can interfere with a normal function that affect work productivity, daily activity, and comfortable sleeping. On the long term, it could cause musculoskeletal disability. The prevalence of this pain is unknown among adolescents in Riyadh. The purpose of the study is to measure the prevalence of NSP and LBP among high schools' students in Riyadh and to pinpoint the associated possible causes responsible for their occurrence. Methods: This is a quantitative, observational cross-sectional study done in Riyadh. We have selected five high schools, from different regions of the city. We have performed the study using a self-administered questionnaire administered to 596 adolescent students at the five selected high schools in Riyadh. Results: A total of 563 (56.0% of males and 44.0% of females) participants completed the questionnaire. Around half of the samples (49.7%) reported to have both NSP and LBP, and 18.1% reported that they have experienced neither NSP nor LBP. NSP was reported by 69.4% of participants and was significantly associated with female gender and mood change and abdominal sleeping position. LBP, on the other hand, was reported by 62.2% of participants and was significantly associated with female gender and mood change. Conclusions: NSP and LBP are common problems among high school students in Riyadh. Being female, having mood changes, and abdominal sleeping position are risk factors.
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Submuscular bridge plating in the treatment of unstable femur fractures in children and adolescents p. 286
Weverley Valenza, Jamil Soni, Wagner Gasperin, Fernando Faria
Objectives: To evaluate the recommendations for submuscular bridge plating and the outcomes of this procedure in pediatric patients with unstable femur fractures. Methods: This was a retrospective analysis of 13 patients with unstable femur fractures treated over a period of 2 years. We analyzed the patients' age, mechanism of trauma, fracture type and location, follow-up duration, and associated injuries. The results were evaluated using the modified Flynn's criteria. Results: Overall, 12 patients were boys and 7 fractures affected the right femur. Two open fractures were classified as Gustilo Type IIIA. The mean age of the patients was 10.2 years. The mechanism of trauma included falls (n = 5), automobile accidents (n = 4), direct trauma (n = 2), and gunshot (n = 2). Six fractures involved the proximal third of the femur, whereas four involved the middle third and three involved the distal third. The fractures were long oblique in 7 cases, spiral in 2 cases, and comminuted in 4 cases. We had 11 excellent and 2 acceptable results. As for potential complications, we observed no pseudarthrosis, malalignment, or leg-length discrepancy. Conclusions: Despite the small number of patients in this study, submuscular bridge plating emerged as a viable and safe therapeutic alternative for unstable femur fractures and fractures in the distal and proximal femoral metaphysis in children and adolescents.
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Hallux valgus in Riyadh, Saudi Arabia: Prevalence, characteristics, and its associations p. 292
Ali Alkhaibary, Fahad Alghanim, Abdullah Najdi, Kout Alanazi, Nader S Alkenani
Objectives: Hallux valgus (HV) is a common forefoot deformity encountered in orthopedic clinics. Little is known about the condition in Saudi Arabia due to the deficiency of studies investigating its characteristics in the general population. Epidemiological studies documenting HV prevalence are of paramount importance. This study aimed to estimate the prevalence of HV and identify its characteristics among the Saudi population residing in the capital city, Riyadh. Methods: An interview-based and self-reported cross-sectional study was conducted at four commercial centers and three universities in Riyadh, Saudi Arabia. Data were collected between December 2017 and February 2018. For estimation of the prevalence of HV, the Manchester scale was used. Multivariate logistic regression was used to test the relationship between HV and possible risk factors. Bivariate analysis, using cross-tabulation, was used to identify the odds ratios (ORs) of HV and Chi-square to calculate statistical significance. Results: A total of 420 participants (140 males and 280 females) were included in the study. The overall prevalence of HV for all participants was 43% (n = 181). The prevalence of HV in males and females was 30.7% (n = 43) and 49.2% (n = 138), respectively. Severe degree of HV was noted in 0.95% of the participants. The incidence of HV was more prevalent in participants who reported a positive family history (OR = 2.144; P = 0.001), big toe pain (OR = 2.97; P = 0.001), and female gender (OR = 2.039; P = 0.003). Conclusion: In the Saudi Arabian population, HV is a prevalent foot deformity that is associated with big toe pain, positive family history, and female gender.
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Use of dual cup mobility technique with bone grafting for reconstruction of acetabular defect in hip sarcoma without stabilizing plates p. 298
Reema M Alhussein, Mansoor M Albarrak, Osama S Alshaya
Acetabular reconstruction following malignancy is considered to be a difficult technique regarding the management of severe bone loss. We report a case of pleomorphic undifferentiated sarcoma involving the right femoral head extending to the acetabulum, in a patient presenting with deteriorating right hip pain. We investigated systemically and locally by radiographs, computed tomographic scan, magnetic resonance imaging, and bone scan. We used a modified extra-articular wide surgical resection of the proximal femur and acetabulum instead of classic extra-articular resection followed by reconstructed using cancellous bone chips and dual mobility cup without stabilizing plates. At 6-month follow-up, the allograft had united with the host bone, and radiographs showed satisfactory position and stability of the components. To the best of our knowledge, this scenario has not been reported in other literature. We recommend further studies to be performed in a larger number of patients with longer follow-up to confirm the satisfaction with impaction of bone grafting in a patient with hip sarcoma without stabilizing plates.
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Surgical hip dislocation to treat chondroblastoma of the femoral head by transfoveal curettage and bone grafting p. 303
Ahmed A Khalifa, Amr A Fadle, Mohammad A Alzohiry, Omar A Refai
Although chondroblastoma is rare, occasionally it may affect the femoral head with the dilemma of choosing the best surgical approach, which provides better access and avoids complications. We present a case of a 14-year-old female with chondroblastoma in the femoral head, which was treated through surgical hip dislocation by curettage and bone grafting through a transfoveal approach. At the latest follow-up at 24 months, there was no evidence of local recurrence or avascular necrosis on plain radiograph and the patient was pain-free. We believe that this approach is safe to treat such cases, but technically demanding.
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Rare painful pediatric deformity; when surgery does harm: Case report and review of the literature p. 307
Luay M Al-Naser, Ghazwan A Hasan, Reda A Sheta, Yasser A Mazin, Hayder Q Raheem
Fibrodysplasia ossificans progressiva (FOP) is a connective tissue disease that is extremely rare. Fibrous tissue in muscles, tendons, and ligaments get ossified spontaneously or damaged by a mutation of the body's repair mechanism. In this report, we present a case of FOP, which is considered one of the rarest diseases that can cause scoliosis and new bone formation around the spine and almost everywhere in the body. A 14-year-old female presented with scoliosis and limitation in spine and upper limb movements. The condition started at the age of 9 years with a painful mass in the right side of the upper back. At that time, the parents asked for medical help; a general surgeon advised and performed an excisional biopsy of the mass. Subsequently, the mass reappeared and continued to grow, covering nearly the entire back. Radiological investigations revealed a well-formed bony band extending from the right shoulder to the iliac bone posteriorly with bony formations in the left shoulder, back, medial aspects of the arms, axilla, and buttocks. FOP is an extremely challenging disorder with difficulties in both diagnosis and management, and large malformed toes with well-formed ossification anywhere in the body should raise the suspicion of the diagnosis. Any surgical intervention, including biopsy, will harm the patient and should be avoided.
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Nonunion of lateral humeral condyle fracture with progressive cubitus valgus in children: How to address the challenge? p. 311
Abdulmuhsen N Alshammari, Hosam H Alrehaili, Aya K Aldayel, Nezar B Hamdi
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Short painful fingers p. 315
Nizar A Al-Nakshabandi
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