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UNASSIGNED: Developmental Dysplasia of the Hip (DDH) is a skeletal disorder where late-presenting forms often escape early diagnosis, leading to limb and pain in adults. The genetic basis of DDH is not fully understood despite known genetic predispositions.
UNASSIGNED: We employed Whole Genome Sequencing (WGS) to explore the genetic factors in late-presenting DDH in two unrelated families, supported by phenotypic analyses and in vitro validation.
UNASSIGNED: In both cases, a novel de novo heterozygous missense mutation in RAF1 (c.193A>G [p.Lys65Glu]) was identified. This mutation impacted RAF1 protein structure and function, altering downstream signaling in the Ras/ERK pathway, as demonstrated by bioinformatics, molecular dynamics simulations, and in vitro validations.
UNASSIGNED: This study contributes to our understanding of the genetic factors involved in DDH by identifying a novel mutation in RAF1. The identification of the RAF1 mutation suggests a possible involvement of the Ras/ERK pathway in the pathogenesis of late-presenting DDH, indicating its potential role in skeletal development.

BACKGROUND: Patients with osteonecrosis of the femoral head secondary to DDH frequently require total hip arthroplasty (THA), but it is not well understood which factors necessitate this requirement. We determined the incidence of THA in patients who have osteonecrosis secondary to DDH and factors associated with need for THA.
METHODS: We included patients who received closed or open reductions between 1995 and 2005 with subsequent development of osteonecrosis. We determined osteonecrosis according to Bucholz and Ogden; osteoarthritis severity (Kellgren-Lawrence), subluxation (Shenton\'s line); neck-shaft angle; and acetabular dysplasia (centre-edge and Sharp angles). We also recorded the number of operations of the hip in childhood and reviewed case notes of patients who received THA to describe clinical findings prior to THA. We assessed the association between radiographic variables and the need for THA using univariate logistic regression.
RESULTS: Of 140 patients (169 hips), 22 patients received 24 THA (14%) at a mean age of 21.3 ± 3.7 years. Associated with the need for THA were grade III osteonecrosis (OR 4.25; 95% CI 1.70-10.77; p = 0.0019), grade IV osteoarthritis (21.8; 7.55-68.11; p < 0.0001) and subluxation (8.22; 2.91-29.53; p = 0.0003). All patients who required THA reported at least 2 of: severe pain including at night, stiffness, and reduced mobility. Acetabular dysplasia and number of previous operations were not associated with the need for THA.
CONCLUSIONS: We identified a 14% incidence of THA by age 34 years in patients with osteonecrosis secondary to DDH. Grade III osteonecrosis (global involvement femoral head and neck) was strongly associated with THA, emphasising the importance to avoid osteonecrosis when treating DDH.

BACKGROUND: Developmental dysplasia of the hip (DDH) is a disorder in which the hip joint does not develop normally in the pediatric age group. It is caused by a confluence of hereditary and environmental factors. We aimed to examine knowledge and awareness of DDH among the general population of the southern and western regions of Saudi Arabia.
METHODS: A cross-sectional survey-based study was conducted in the western and southern regions of Saudi Arabia. This study included adult male and female participants above 18 years of age. Data were collected using a validated electronic questionnaire that was disseminated via social media platforms. All data were analyzed using IBM SPSS Statistics for Windows, Version 23.0 (IBM Corp., Armonk, NY).
RESULTS: In this study, 1,232 participants were surveyed in Saudi Arabia. The majority were between 21 and 30 years old (663, 53.8%), unmarried (690, 56%), and had a baccalaureate or diploma certificate (886, 71.9%). Regarding knowledge of DDH, 86.4% of participants had poor knowledge of the causes of DDH, and 740 (60%) had poor overall knowledge of DDH. However, 492 (40%) participants had good knowledge. Respondents with a higher monthly income, those who were mothers, and those who obtained information from social media had a better awareness level. Concerning treatment, 531 (43.1%) participants were unsure about the best treatment for DDH, and 850 (69%) believed that early treatment was better.
CONCLUSIONS: According to our literature, DDH is highly prevalent among Saudi populations. However, our findings indicate that the majority of the Saudi population residing in the western and southern regions of Saudi Arabia lacks basic knowledge of DDH. All capable facilities, such as medical schools, hospitals, and primary healthcare centers, must impart cultural education about DDH to address this awareness gap.

UNASSIGNED: To evaluate mid-long term radiological outcomes following early medial approach open reduction (MAOR) performed for developmental dysplasia of the hip (DDH) in infants aged ≤6 months old at time of surgery, specifically incidence of clinically significant avascular necrosis (AVN), Severin outcomes and rates of further surgery.
UNASSIGNED: This is a single centre retrospective study of patients treated from 1999 to 2017. Only infants aged ≤6 months old at time of MAOR, and aged at least 6 years old at latest follow-up were included (minimum 5.5 years follow-up). Data was collected from electronic healthcare records and serial radiographs reviewed to assess outcomes. AVN was classified according to Kalamchi and MacEwen, with types 2-4 considered clinically significant. Severin classes I (excellent) and II (good) were considered satisfactory outcomes, and classes III + considered unsatisfactory.
UNASSIGNED: MAOR was performed on 48 hips in 44 patients. Mean age at time of surgery was 4 months (SD 1.4, range 2-6), with mean follow-up of 9.8 years (SD 2.7, range 6.2-16.2). Clinically significant AVN developed in 9/48 hips (19 %), all of which were type 2. Only 1/48 hips (2 %) required a subsequent pelvic osteotomy due to residual dysplasia with subluxation at 2 years post MAOR. At final follow-up, 81 % of patients had excellent or good radiological outcomes (Severin I/II). No statistically significant predictors for developing AVN, including age and presence of ossific nucleus, were identified.
UNASSIGNED: Early MAOR in infants aged ≤6 months was associated with a very low rate of significant residual dysplasia requiring further surgery, yet was not associated with unacceptable rates or severe forms of AVN. We therefore recommend MAOR is performed early to optimise acetabular remodelling potential and minimise the need for concurrent or subsequent bony procedures.

OBJECTIVE: To assess validity, safety, and efficacy of the modified triple pelvic osteotomy (TPO) approach for correction of residual acetabular dysplasia.
METHODS: This is a retrospective case series conducted on 15 hips in 15 patients from 2019 to 2023 with residual acetabular dysplasia treated by modified TPO as described by Tonnis with two modifications. The first modification is using a single medial incision for pubic and ischial cuts (the Vladimirov modification). The second modification is having the ischial cut closer to the acetabulum (Li modification) allowing free movement of the acetabular fragment for better femoral head coverage. The mean age at the time of surgery was 11.85 years, (range 8-23). Cases presenting were 10 males (66.7%) and 5 females (33.3%). The mean follow-up period was 36.533 months (24-60 months).
RESULTS: Our study revealed significant clinical and radiological improvement. The CE angle improved from a mean value of 10° (range 2-17) pre-operatively to 32.785° (range 18°-40°) post-operatively. The AI improved from a mean value of 32° pre-operatively to a mean value of 13.89° post-operatively. HHS increased from a preoperative mean value of 74.80° to a post-operative mean value of 90.67°. Also, there was a significant improvement in ROM (abduction and internal rotation). LLD improved from a mean value of 2.60 cm preoperatively to a mean value of 0.37 cm postoperatively. Delayed union was found in 3 cases. No cases of osteonecrosis or neurovascular complication were encountered in our study.
CONCLUSIONS: The modified TPO technique using dual incisions can be considered safe and effective, providing adequate coverage of the femoral head in acetabular dysplasia with less surgical time, satisfactory functional outcomes, and minimal complications.
METHODS: IV.

BACKGROUND: Total hip arthroplasty (THA) is often performed in symptomatic patients who have hip dysplasia and do not qualify for periacetabular osteotomy. The impact of osteoarthritis (OA) severity on postoperative outcomes in dysplasia patients who undergo THA is not well described. We hypothesized that dysplasia patients who have mild OA have slower initial recovery postoperatively but similar one-year patient-reported outcome measures (PROMs) compared to dysplasia patients who have severe OA.
METHODS: We performed a retrospective review at a single academic institution over a 6-year period of patients who have dysplasia who underwent THA compared to patients who have primary OA who underwent THA. There were 263 patients who had dysplasia, compared to 1,225 THA patients who did not have dysplasia. Within the dysplasia cohort, we compared PROMs stratified by dysplasia and OA severity. The diagnosis of dysplasia was verified using the radiographic lateral center edge angle. A minimum one-year follow-up was required. The PROMs were collected through one year postoperatively. Logistic and linear regression models were used, adjusting for age, sex, body mass index, and Charlson comorbidity index.
RESULTS: No significant differences were found in postoperative PROMs or revision rates (P = .58). When stratified by dysplasia severity, patients who had lower lateral center edge angle had more improvement in physical function scores from preoperative to 2 weeks (P < .01) and higher physical function scores at 2 weeks (P = .03). When stratified by OA severity, patients who had a worse Tönnis score had more improvement in physical function scores from preoperative to 2 weeks (P < .01). Recovery curves in dysplasia patients based on dysplasia and OA severity were not significantly different at 6 weeks, 1 year, and 2 years postoperative.
CONCLUSIONS: Patients who had hip dysplasia and mild OA had similar recovery curves compared to those who had severe OA or who did not have dysplasia. We believe that THA is a reasonable surgical intervention for symptomatic dysplasia patients who have mild arthritis and do not qualify for periacetabular osteotomy.

BACKGROUND: In traditional surgical procedures, significant discrepancies are often observed between the pre-planned templated implant sizes and the actual sizes used, particularly in patients with congenital hip dysplasia. These discrepancies arise not only in preoperative planning but also in the precision of implant placement, especially concerning the acetabular component. Our study aims to enhance the accuracy of implant placement during Total Hip Arthroplasty (THA) by integrating AI-enhanced preoperative planning with Patient-Specific Instrumentation (PSI). We also seek to assess the accuracy and clinical outcomes of the AI-PSI (AIPSI) group in comparison to a manual control group.
METHODS: This study included 60 patients diagnosed with congenital hip dysplasia, randomly assigned to either the AIPSI or manual group, with 30 patients in each. No significant demographic differences between were noted the two groups. A direct anterior surgical approach was employed. Postoperative assessments included X-rays and CT scans to measure parameters such as the acetabular cup anteversion angle, acetabular cup inclination angle, femoral stem anteversion angle, femoral offset, and leg length discrepancy. Functional scores were recorded at 3 days, 1 week, 4 weeks, and 12 weeks post-surgery. Data analysis was conducted using SPSS version 22.0, with the significance level was set at α = 0.05.
CONCLUSIONS: The AIPSI group demonstrated greater prosthesis placement accuracy. With the aid of PSI, AI-planned THA surgery provides surgeons with enhanced precision in prosthesis positioning. This approach potentially offers greater insights and guidelines for managing more complex anatomical variations or cases.

UNASSIGNED: This study aims to demonstrate the use of the cartilaginous to osseous acetabular angle ratio (AAR) in surgical decision-making for hip dysplasia.
UNASSIGNED: Data were collected from patients who underwent an MRI of the hip after conservative treatment for developmental dysplasia of the hip between August 2019 and 2022. The data included demographic information as well as an anteroposterior pelvic radiograph. The osseous acetabular index (OAI) was measured using x-ray, while the cartilaginous acetabular index (CAI) and the cartilaginous acetabulum head index (CAHI) were measured using MRI. The square of the CAI to OAI, AAR, was calculated. The patients in the residual hip dysplasia (RHD) group were categorized as having an OAI above 20°. During the postoperative follow-up, we evaluated the patients in this group who underwent Bernese triple pelvic osteotomy. Data on surgical patients with an observation period that exceeded 1 year were collected and analyzed. The distribution of the AAR among the different groups was analyzed. A receiver operating characteristic (ROC) predictive model was constructed using the AAR of the patients in the normal and surgical groups to evaluate the need for surgery.
UNASSIGNED: It was found that there was a significant difference in the OAI, CAI, CAHI, and AAR between the RHD group (OAI 26.15 ± 3.90°, CAI 11.71 ± 4.70°, CAHI 79.75 ± 6.27%, and AAR 5.88 ± 4.24) and the control group patients (OAI 16.77 ± 5.39°, CAI 6.16 ± 3.13°, CAHI 85.05 ± 4.91%, and AAR 2.71 ± 2.08) (p < 0.001). A total of 93.5% of the control group patients had an AAR ≤5, while only 6.5% had an AAR >5. The results of postoperative imaging follow-up were \"excellent\" in 52 patients and \"good\" in 3, while the functional follow-up results were excellent in 53 and good in 2. In 15 patients, the observation period exceeded 1 year. The mean observation period was 633.1 ± 259.6 days and the preoperative CAHI was 71.7 ± 4.8%. Of the patients with an AAR >5, a substantial 94.8% (55/58) of them were reported to have undergone surgery, while all patients with an AAR less than or equal to 5 did not undergo surgery (91/91). Based on the ROC, a cutoff value of 5.09 was identified for the need for surgery in children with RHD.
UNASSIGNED: A surgical decision for residual hip dysplasia can be based on the AAR. An AAR >5 may be a potential indicator for surgical intervention in patients with RHD.

BACKGROUND: Developmental dysplasia of the hip (DDH) leads to pain, joint instability, and early degenerative joint disease. Incidence, prevalence, and management strategies of DDH have been well-documented in several countries, but not in Saudi Arabia.
OBJECTIVE: We synthesized the current evidence regarding incidence, prevalence, risk factors, and clinical treatment for children with DDH in Saudi Arabia.
METHODS: We searched 3 databases to locate studies. Studies that included children with DDH in Saudi Arabia; reported either incidence rate, prevalence, risk factors, and/or clinical practice; and were available in English or Arabic were included. We excluded reviews, case studies, or animal studies. Two independent authors reviewed potential studies and assessed study\'s quality.
RESULTS: Our search yielded 67 potential studies, of which 16 studies were included (total DDH sample = 3,127; age range = 2.5 to 86.4 months). Three studies reported incidence rates ranging from 3.1 to 4.9 per 1000 births, and 3 studies reported prevalence ranging from 6 to 78%. Nine studies reported that female sex, breech position, family history, and age less than 3 years were risk factors associated with DDH. Four studies reported that brace applications and closed reduction were conservative treatments, and 9 studies reported that open hip reduction, adductor tenotomy, and/or pelvic osteotomy were surgical approaches to treat DDH.
CONCLUSIONS: In Saudi Arabia, the Incidence and prevalence rates of DDH are 3.1 to 4.9 per 1,000 births, and 6-78%, respectively (differ from what has been reported in other countries), but the risk factors of DDH in Saudi Arabia appear to be similar in comparison to other countries (female, breech presentation, family history of DDH).