Further characterization of ARSK-related mucopolysaccharidosis type 10.

Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or knee pain and a waddling gait. All patients showed normal intelligence, normal hearing and eye examinations, and none had organomegaly. While typical dysostosis multiplex findings were not observed, mild platyspondyly with anterior beaking of some vertebral bodies, irregular vertebral endplates, wide ribs, inferior tapering of the ilea with a poorly developed acetabulum, irregularity of the central part of the femoral head, delayed ossification of the carpals were noted. Remarkably, all patients showed metaphyseal striation of the long bones, a crucial diagnostic clue to identify ARSK-related MPS type 10. Interestingly, vertebral involvement regressed during follow-up. On the other hand, hip dysplasia progressed in all patients. In conclusion, this study provides valuable long-term results on a recently discovered form of MPS.

Effect of the Pavlik harness used in the treatment of developmental dysplasia of the hip on unaided sitting and independent walking age.

Background: Pavlik harness is the most widely used orthosis in the treatment of developmental dysplasia of the hip. The aim of this study was to evaluate the effect of the Pavlik harness on the development of "unaided sitting" and "independent walking" in infants with developmental dysplasia of the hip. Methods: This prospective study, conducted from 2017 to 2020, included infants undergoing Pavlik harness therapy. Inclusion criteria comprised gestational age > 37 weeks, treatment initiation before 6 months of age, and no prior treatment for developmental dysplasia of the hip. We assessed treatment initiation age, treatment duration, and the age of achieving unaided sitting and independent walking. Results: In the patient group, unaided sitting commenced at a mean age of 6.8 ± 1.6 (range: 4-11) months, while independent walking began at a mean age of 12.7 ± 1.8 (range: 9-18) months. By 15 months, 92% of the patients achieved independent walking. In the control group, unaided sitting occurred at a mean age of 6.1 ± 1.1 (range: 4-8) months, and independent walking at 11.8 ± 1.6 (range: 9-18) months. A significant positive correlation was observed between the duration of Pavlik harness usage and the age of unaided sitting (p < 0.001) and independent walking (p < 0.001). Conclusion: Our study indicates that Pavlik harness treatment for developmental dysplasia of the hip is generally safe and does not lead to clinically significant delays in unaided sitting and independent walking. However, some minor delays may occur due to extended orthosis use. Level of evidence: level III-prospective cohort study.

Effect of fracture level on the residual fracture gap during tibial intramedullary nailing for tibial shaft fractures.

INTRODUCTION: The development of fracture gap during intramedullary nailing in tibial fractures is associated with poor fracture fragment contact and increased time to union and complications. This study aimed to evaluate the effect of the fracture level in the development of the fracture gap and the effect of the fracture gap on pain, radiologic and functional outcomes, and complication rate. MATERIAL AND METHOD: A total of 45 patients who underwent reamed intramedullary nailing due to closed transverse or short oblique tibial shaft fractures were divided into the proximal fracture group and the distal fracture group. The correlations between the visual analog scale (VAS) score, modified radiograph union score for tibias (RUST), and postoperative 1-year lower extremity functional scale scores, residual fracture gap, and time to union were evaluated. RESULTS: The mean fracture gap amounts in the immediate postoperative anteroposterior and lateral radiographs were 5.6 ± 1.7 and 6.0 ± 1.7 mm in proximal fractures and 0.3 ± 2.4 mm and 0.4 ± 2.3 mm in distal fractures, respectively (p < 0.001 and p < 0.001, respectively). The mean time to union was 21.9 ± 2.9 weeks in the proximal fracture group and 16.7 ± 2.4 weeks in the distal fracture group (p < 0.000). The residual fracture gap amount significantly correlated with the level of fracture (r = 0.811, p < 0.001). DISCUSSION: Tibial shaft fractures proximal to the isthmus level tend to develop significantly larger fracture gaps than distal fractures. It is associated with increased time to union and radiographic union scores as well as slightly higher complication and reoperation rates.

Which factor is more reliable considering prophylactic pinning of contralateral hip of unilateral SCFE patients?

BACKGROUND: This study evaluates the radiological parameters of developing subsequent contralateral slips in unilateral slipped capital femoral epiphysis (SCFE) patients at the time of initial presentation. METHODS: The study group included the review of unilateral SCFE patients treated between June 2007 and August 2018. Age, gen-der, side, stability, posterior slope angle, grade of slip, modified Oxford bone age score (mOBAS), the Risser classification, and the ap-pearance of the triradiate cartilage were evaluated retrospectively. Data were analyzed between two groups: subsequent contralateral SCFE (SCFESC) patients that developed contralateral slip during follow-up and unilateral SCFE (SCFEU) patients that did not develop contralateral slip up to skeletal maturity. Descriptive statistics were used to compare risk factors between groups. RESULTS: This study included 48 patients and 6 patients (12.5%) developed a SCFESC. Only mOBAS was significantly different be-tween groups. The mOBAS scores in SCFESC were 18 in 2 patients (33.3%), 19 in 4 patients (66.7%). The mOBAS scores in SCFEU were 18 in 1 patient (2.4%), 19 in 24 patients (57.1%), and >20 in 17 patients (40.5%). In the SCFESC group, all patients had a Risser score of 0 and all had open triradiate cartilage. CONCLUSION: Patients with unilateral SCFE are at risk for SCFESC, and the mOBAS is the best predictor of risk assessment. We agree that mOBAS score of 16,17 or 18 patients' contralateral hips can be prophylactically pinned. We also suggest pinning or close screening of mOBAS 19 patients that some carry relatively high risk of subsequent contralateral slip.

Salter osteotomy has lower fluoroscopy exposure time compared to Tonnis lateral acetabuloplasty.

Salter osteotomy and Tonnis lateral acetabuloplasty (TLA) are pelvic osteotomies with similar indications and clinical results used in the treatment of developmental dysplasia of the hip (DDH). The aim of our study was to compare the intraoperative fluoroscopy exposure time (FET) in patients with DDH treated with the Salter osteotomy and TLA. In this study, data were collected prospectively and compared after the study was completed. The patients were evaluated in three groups: pelvic osteotomy (group 1), open reduction with pelvic osteotomy (group 2) and open reduction + pelvic osteotomy + femoral shortening (group 3). Pelvic osteotomy techniques in each group were further analyzed in two subgroups as Salter osteotomy and TLA. Age, sex, surgery side, degree of dysplasia according to the Tönnis classification, duration of anesthesia and intraoperative FET (seconds) were recorded. A total of 109 patients (93 girls and 16 boys) were included in the study; 29 patients in group 1, 50 in group 2 and 30 in group 3. Although the patients who underwent Salter osteotomy and TLA were similar in all three groups in terms of age, sex, surgery side, Tönnis classification and duration of anesthesia, FET was longer in the patients who underwent TLA (group 1, P < 0.001; group 2, P < 0.001; group 3, P = 0.005). The use of the Salter osteotomy technique in the treatment of acetabular dysplasia in patients with DDH seems to be more advantageous in terms of FET than TLA osteotomy. It would be beneficial to consider this result in terms of radiation safety. Level of Evidence: II.

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

BACKGROUND: Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this study is to investigate the genetic etiology and prognostic findings in patients with metaphyseal dysplasia. METHODS: Twenty-four Turkish patients were included in this study and 13 of them were followed for 2-21 years. COL10A1, RMRP sequencing and whole exome sequencing were performed. RESULTS: Results: Seven heterozygous pathogenic variants in COL10A1 were detected in 17 patients with Schmid type metaphyseal chondrodysplasia(MCDS). The phenotype was more severe in patients with heterozygous missense variants (one in signal peptide domain at the N-terminus of the protein, the other, class-1 group mutation at NC1 domain) compared to the patients with truncating variants. Short stature and coxa vara deformity appeared after 3 and 5 years of age, respectively, while large femoral head resolved after the age of 13 years in MCDS group. Interestingly, one patient with severe phenotype also had a biallelic missense variant in NC1 domain of COL10A1. Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH). While immunodeficiency or recurrent infections were not observed, resistant congenital anemia was detected in one. Biallelic mutation in LBR was described in a patient with prenatal onset short stature, short and curved limb and metaphyseal abnormalities. Unlike previously reported patients, this patient had ectodermal findings, similar to CHH. A biallelic COL2A1 mutation was also found in the patient with lower limb deformities and metaphyseal involvement without vertebral and epiphyseal changes. CONCLUSION: Long-term clinical characteristics are presented in a metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. We also point out that the domains where mutations on COL10A1 take place are important in the genotype-phenotype relationship.

Isokinetic Analysis of Flexible Flatfoot: Is It a Weakness of Proprioception and Muscle Strength?

BACKGROUND: Although flexible flatfoot (FF) in children is a foot deformity that is frequently encountered in daily orthopedics practice, its etiology is still controversial. The aim of this study was to determine whether there is a weakness in muscle strength and proprioception in patients with FF. METHODS: The study group consisted of 16 cases with FF, and the control group consisted of 25 volunteers with normal feet. An isokinetic dynamometer was used to assess muscle strength and proprioception of movement directions of plantarflexion, dorsiflexion, eversion (EV), and inversion (INV) in both groups. RESULTS: There was no statistically significant difference between the groups in strength of plantarflexion and dorsiflexion muscles, whereas in the control group, proprioception of all four movement directions and strengths of the EV and INV muscles were found to be statistically significantly higher (P < .05). CONCLUSIONS: There is weakness in EV and INV muscle strength and proprioception disorder in patients with FF. We recommend conducting further studies that validate muscle weakness and proprioception disorders with different study designs and evaluate the effectiveness of improving muscle strength and proprioception weakness in FF.

Evolution of the angular deformity and limb length discrepancy of congenital posteromedial bowing of the tibia over time.

OBJECTIVES: This study aims to assess the natural history of congenital posteromedial bowing of the tibia (CPMBT) deformity during growth and to evaluate the outcomes of lengthening by an Ilizarov frame in CPMBT patients with limb length discrepancy (LLD). PATIENTS AND METHODS: Between January 2000 and December 2019, a total of 22 patients (12 males, 10 females; mean age: 10.5±4.4 years; range, 6 to 19 years) with the diagnosis of CPMBT and followed closely from birth until skeletal maturity were retrospectively analyzed. The radiographic evaluation included the anteroposterior and lateral interphyseal angle and full leg standing radiographs. Limb lengthening by an Ilizarov frame was performed for an estimated LLD over 40 mm. RESULTS: The age of the patients ranged from six days to 10 months at the time of presentation, while the mean age at the final follow-up was 10.5±4.4 years. Posterior medial bowing was satisfactorily remodeled in 13 (59%) patients those were not operated either for deformity or LLD. The mean LLD was 21±4.1 mm in 13 nonoperated CPMBT patients. Nine of 22 (41%) patients underwent lengthening for LLD. Five of the nine CPMBT patients were operated under the age of 10 years, while four were operated over the age of 10 years. CONCLUSION: According to the results of the current study, CPMBT was satisfactorily remodeled in more than half of the patients, and the majority of patients did not undergo surgery for angular deformity and LLD within 10 years of their lives. Based on these findings, although most of the patients' deformities remodeled, it should be kept in mind that some may require lengthening surgery.

Risk factors related reduction loss in nonoperatively treated Type II supracondylar humerus fractures.

BACKGROUND: Controversies continue about the optimal treatment method for extension Type II supracondylar humerus fractures (SCHFs). Although most patients are successfully treated with closed reduction and plaster casting, in some patients, the reduction initially obtained is lost during the time in the plaster cast. The aim of this study was to determine the risk factors causing reduction loss. METHODS: A retrospective examination was made of the data of 103 patients with Type II extension SCHF treated with closed reduction and plaster cast fixation between 2012 and 2018. Reduction loss was evaluated in respect of patient variables, fracture characteristics as obliquity and metaphyseal fragmentation, fixation method, and plaster cast parameters. RESULTS: The 103 patients evaluated comprised 62 males and 41 females with a mean age of 5.4±2.5 years (2-11.6 years). Successful treatment was achieved with closed reduction and plaster cast fixation in 81 (79%) patients and reduction loss was observed in 22 (21%) patients. The reduction loss of fractures showing high oblique in the sagittal plane was 3.17-fold higher than low sagittal oblique fractures (95% CI: 0.99-10.03, p<0.05). The risk of reduction loss in fractures with metaphyseal fragmentation was found to be 6.5-fold higher (95% CI: 1.6-26.5, p<0.01). No statistically significant relationship was determined between reduction loss and Gartland subtype, age, gender, the presence of rotation initially, plaster cast angle, and the soft-tissue/inner cast width ratio. CONCLUSION: According to our study group, 79% of extension Type II fractures can be successfully treated with closed reduction and plaster casting. Sagittal plane obliquity and metaphyseal fragmentation are risk factors for reduction loss independent of Gartland subtype.

Overlapping repair and epitenon healing are more stable biomechanically than side to side repair and endotenon healing in achilles tendon lengthening with Z plasty.

BACKGROUND: The current study aimed to compare biomechanical stability and healing process of side-to-side repair with overlapping repair after Achilles tendon lengthening with Z-plasty. METHODS: In our study, 22 Sprague Dawley male rats were used. Side-to-side repairs were classified as group 1 and overlapping repairs as group 2. The left and right legs of seven rats were used to compare early group 1 and early group 2 biomechanical test results at day 0. Seven rats were used to compare late group 1 and late group 2 biomechanical test results at day 28. Both the right and left tendons were tested from the four rats examined in the biomechanically in the untreated control group. The last remaining four rats were used for histopathological evaluation of tendon repair, at 28-days from the index procedure.The ultimate load to failure was compared between groups. RESULTS: At time 0, there were no measurable differences between group 1 (3.8 ± 1.4 N) and group 2 (3.7 ± 1.1 N), and both could endure less than one-tenth of the untreated control (49 ± 12). At 28 days, ultimate load to failure improved significantly in both group 1 (16.2 ± 3.5 N) and even more in group 2 (36 ± 8.1 N). While there was a significant difference between group 1 and group 2, neither were able to meet the untreated control (49 ± 12). Histopathological evaluation in the post-healing period showed that fibrosis, neovascularization, and inflammation increased in both groups. CONCLUSION: The overlapping suture technique and epitenon healing have more stability compared to side-to-side suture technique and endotenon healing. Human population trials may or may not exist, our study suggests it should be considered and further investigation needed before actual clinical application.

Disability and Quality of Life After Talectomy for Arthrogryposis Multiplex Congenita.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is one of the causes of rigid and resistant clubfoot. Talectomy is considered as a primary or salvage procedure for recurrent equinovarus deformity in these patients. We conducted this study to assess patients with AMC who underwent talectomy for the correction of foot and ankle deformities in terms of health-related quality of life and disability. METHODS: Patients under 10 years of age with a primary diagnosis of AMC who underwent talectomy and attended follow-up for at least 5 years were included in this study. We also formed an age- and gender-matched control group consisting of 20 individuals without any foot-ankle problem in order to compare the measurements between the AMC and healthy groups. Oxford Ankle Foot Questionnaire (OxAFQ) was administered as a health-related quality of life instrument to objectively measure the disability of the pediatric patients. RESULTS: Twenty patients (10 girls, 10 boys) who underwent a total of 35 talectomy operations with an average follow-up of 7.2 years and a control group of 20 similarly aged unaffected children were included in the study. The mean OxAFQ scores were significantly lower in the AMC group than in the controls for all domains (physical, emotional, and school and play), especially for the one concerning satisfaction with footwear The presence of plantigrade foot and absence of forefoot supination were significantly associated with the physical and footwear domains of the OxAFQ scores. The presence of hindfoot varus, midfoot adductus, dorsal bunion, and having less than 10 degrees of dorsiflexion had no effect on the OxAFQ scores. CONCLUSION: In this study, we found that the major driving factors for satisfaction after talectomy for AMC were plantigrade foot and absence of forefoot supination. The mean OxAFQ scores were universally lower in the AMC group than controls. Finding comfortable footwear is a major concern for the AMC patients. LEVEL OF EVIDENCE: Level III, retrospective cohort study.

Multivariate analysis of the predictive value of asymmetric skin creases in diagnosis of decentralized developmental dysplasia of the hip.

The aim of this study was to investigate the relationship of developmental dysplasia of the hip (DDH) with asymmetrical skin crease (ASC) in the inguinal, gluteal and thigh regions and to determine which ASC has the most predictive value for the diagnosis of hip dislocation in infants. This study was planned as a prospective, observational study and conducted between 1 October 2020 and 1 June 2021. Asymmetric distribution of skin creases was evaluated separately in three regions (inguinal, gluteal and thigh). Then, hip ultrasonography (USG) was performed and the Graf method was used to classify the cases as 'centralized' [Graf types I, IIa (-), IIb and IIc] and 'decentralized' (Graf types IId, III and IV). The relationship between the groups was evaluated using univariate and then multivariate analyses. A total of 241 patients were included in the study. The number of patients with ASC was 49 (21%). While 36 of these 49 patients had centralized hips, 13 had decentralized hips ( P < 0.001). Sixty-five percent (13/20) of 20 infants with decentralized hips had ASC in at least one of the inguinal, gluteal or thigh regions. The presence of ASC in the inguinal ( P < 0.001) and gluteal ( P < 0.014) regions increased the risk of the decentralized hip in the child, whereas the presence of ASC in the isolated thigh region did not increase the risk of the dislocated hip ( P = 0.534). Inguinal ASC and gluteal ASC are reliable findings in DDH screening, but the relationship of isolated thigh ASC with DDH could not be demonstrated statistically. Level of Evidence: Level II - diagnostic study.

Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.

Osteogenesis imperfecta type XI (OI-XI) and Bruck syndrome type I (BS1) are two rare disorders caused by biallelic variants in the FKBP10, characterized by early-onset bone fractures and progressive skeletal deformities. The patients with OI-XI, also co-segregated with autosomal-recessive epidermolysis bullosa simplex caused by KRT14 variant, have been reported. In this study, the follow-up clinical features of the patients with OI-XI and BS1 phenotypes due to biallelic FKBP10 variants are compared. The aim of this study is to investigate the follow-up findings of OI-XI and BS1 phenotypes in patients with the FKBP10 variants. A total of 19 children, ten males and nine females, from 16 unrelated families were included in the study. FKBP10 variants were investigated by next-generation sequencing (NGS) based panel gene test or Sanger sequencing. Seventeen patients were followed between 1.5 and 16.8 years, and the last follow-up age was between 2 and 24.6 years (median 10.7 years). They received intravenous bisphosphonate infusions once every 3 months in follow-up period. We identified four different biallelic FKBP10 variants, two of which are novel (c.890_897dup TGATGGAC, p.Gly300Ter and c.1256 + 1G > A) in 16 families. Five of these patients also had findings of epidermolysis bullosa simplex, and the same biallelic c.612T > A (p.Tyr204Ter) variant in KRT14, as well as FKBP10, were identified. Twelve patients were diagnosed with OI-XI; whereas, seven were diagnosed with BS1. The BS1 phenotype was late-onset and the annual fracture number was lower. After bisphosphonate treatment, bone mineral densitometry Z score at L1-L4 increased (p = 0.005) and the number of annual fractures decreased (p = 0.036) in patients with OI-XI. However, no significant effect of bisphosphonate treatment was found on these values in BS1 patients. Despite the treatment, the rate of scoliosis and long bone deformity had increased in both groups at the last examination; and, only two patients could take a few steps with the aid of a walker, while others were not ambulatory, and they used wheelchairs for mobility. We identified two novel variants in FKBP10. Families originating from the same geographic region and having the same variant suggest founder effects. Although the number of fractures decreased with bisphosphonate treatment, none of our patients were able to walk during the follow-up. This study is valuable in terms of showing the follow-up findings of patients with FKBP10 variants for the first time.

Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.

Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the SLC29A3, TNFRSF11A, TCIRG1, and CSF1R genes. To date, four dysosteosclerosis patients with SLC29A3 mutations have been reported. Here, we report biallelic SLC29A3 (c.303_320dupCTACTTTGAGAGCTACCT) variant in a three-year-old girl. She had large anterior fontanelle, fracture history, short stature, camptodactyly, elbow contracture, and melanocytic nevus. Initial skeletal radiographs revealed platyspondyly, dense vertebral endplates (sandwich appearance of the vertebral bodies), diffuse sclerosis of the peripheral side of the pelvic bones, sclerosis of metaphysis and diaphysis of the long bones, metaphyseal widening, and diaphyseal cortical thickening. Mild sclerosis was also present in the skull base, maxilla, rib, scapula, and phalanges. Notably, we observed that sandwich vertebrae appearance significantly resolved and sclerosis of ribs, scapula, pelvis, and long bone metaphysis regressed over a 2.5-year period. However, platyspondyly, metaphyseal widening, and diaphyseal cortical thickening persisted. In conclusion, this study demonstrates spontaneous resolution of osteosclerosis, which was not described previously in patients with dysosteosclerosis.

Foot abduction increases after achilles tenotomy in clubfoot patients.

BACKGROUND: Although Achilles tenotomy is performed to increase the ankle dorsiflexion in clubfoot patients, it may also increase the amount of the foot abduction due to the unique oval field of motion property of the ankle and subtalar joint complex. This study investigated the effect of Achilles tenotomy on foot abduction in patients with clubfoot. METHODS: Equinus deformity before tenotomy (EBT), equinus deformity after tenotomy (EAT), abduction before tenotomy (ABT), and abduction after tenotomy (AAT) were measured. The decrease in the amount of equinus after tenotomy (Δ equinus) and the increase in the amount of abduction (Δ abduction) after tenotomy were then calculated. RESULTS: The Achilles tenotomy was performed on 22 feet of 16 patients. The results (Mean ± standard deviation) were as follows: EBT: 28° ± 19 (range, 8-76), EAT: -27° ± 7 (-36- -11), ABT: 54° ± 16 (21-72), AAT: 77° ± 5 (66-85), Δ equinus: 55° ± 15 (38-87), Δ abduction: 23° ± 15 (5-51). The change between EBT-EAT and ABT-AAT was statistically significant (both p < 0.001). EBT was correlated negatively with ABT (r = -0.648; p = 0.001) and Δ equinus was correlated positively with Δ abduction (r = 0.522; p = 0.013). CONCLUSION: The Achilles tenotomy in clubfoot patients not only increases ankle dorsiflexion but also increases the foot abduction due to oval field of motion of the ankle and subtalar joint complex. It should be considered that an increase of the foot abduction may be achieved after the Achilles tenotomy. Therefore, the maximum foot abduction may be achieved after the Achilles tenotomy, not before the Achilles tenotomy.

Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients.

OBJECTIVE: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease characterized by recurrent fractures, blue sclera, and hearing loss. Bisphosphonate treatment has been reported to decrease the annual number of fractures and improve the quality of life in patients with OI. The aim of this study is to evaluate the effect of bisphosphonate treatment in the Turkish OI cohort. METHODS: Sixty-five patients with OI, who were treated with pamidronate, were included in this study. The mean treatment duration was 47.1 ± 40 months (range:12-168 months). Bone mineral densitometry (BMD) and the mean number of annual fractures were compared before and after the treatment within groups, and the difference after treatment compared between the OI types. RESULTS: After pamidronate treatment, a significant decrease in the mean annual fracture, along with an increase in BMD Z-score was detected in all patients. Treatment duration did not affect BMD Z-score. However, there was a significant decrease in the mean annual number of fractures after 5 years of treatment (P = .048). After treatment, the decrease in the number of fractures was significant in OI type 3, and the increase in BMD Z-score was significant in OI type 4 when compared with OI type 1. Besides, pamidronate treatment relieved pain, and also corrected the platyspondyly radiologically in all OI groups. CONCLUSION: We demonstrated that pamidronate treatment improves the quality of life by reducing the number of fractures, relieving pain, and also protecting from deformities in all patients with OI.

Age-related decrease in supratrochanteric torsion and increase in infratrochanteric torsion in healthy pediatric femurs: an MRI study.

The aim of the study was to evaluate the correlation between femoral anteversion, supratrochanteric torsion (STT), and infratrochanteric torsion (ITT) in healthy developing pediatric femurs using MRI. This study included 282 (164 males and 118 females) patients aged 1-18 years. The axial MRI of patients with benign tumoral lesions of the femur was retrospectively reviewed. The measurements were performed through axial images of contralateral healthy femurs. Femoral anteversion, STT, and ITT were measured twice by two orthopedic surgeons. The Pearson correlation coefficient was used to test for the correlation of age between STT, ITT, and femoral anteversion in children. All femoral anteversion, STT, and ITT measurements showed excellent intraobserver and interobserver reliability (P < 0.001). The mean STT changed from 68.5° to 37.2° ± 4.2, the mean ITT changed from -37.4° to -21.2° ± 4.2, and the mean femoral anteversion changed from 31.1° to 18.8° ± 2.2 in patients aged 1-18 years. Through the linear regression model, STT, ITT, and femoral anteversion had a significant association (P < 0.001) with age. For an increase of one year in age, the corresponding STT decreased 1.32 times (P < 0.001, R2 = 0.510), the corresponding ITT increased 0.39 times (P < 0.001, R2 = 0.079), and the corresponding femoral anteversion decreased 0.94 times (P < 0.001, R2 = 0.507). ITT increases and STT decreases with age. The decrease in STT contributes more to femoral anteversion than does the increase in ITT. STT and ITT contribute to femoral anteversion with different patterns according to age.

Increased femoral anteversion related to infratrochanteric femoral torsion is associated with ACL rupture.

PURPOSE: To determine the association between femoral torsion and anterior cruciate ligament (ACL) rupture and determine the level of torsion using magnetic resonance imaging (MRI). METHODS: The medical records of patients who were diagnosed with ACL injury were reviewed retrospectively. This descriptive epidemiological study included 2344 patients. MRI scans were examined and patients with femur and knee MRI scans obtained at the same time were identified (ACL-deficient group). Twenty-eight of them had femur and knee MRI scans because of an incidental benign lesion in the distal femur. Patients who were diagnosed with enchondroma were followed up by MRI evaluation of the femur and were randomly selected as controls. Supratrochanteric torsion (STT), infratrochanteric torsion (ITT), and femoral anteversion (FA) were measured by orthopedic surgeons with at least 5 years of experience. RESULTS: Age, sex, and side properties were similar in both groups. The mean FA values were 19.4 ± 3.0 degrees and 11.9 ± 2.0 degrees in the ACL-deficient and control groups, respectively (p < 0.001). STT was similar in the ACL-deficient and control groups [mean: 38.2 ± 4.3 and 37.7 ± 3.3, respectively, (n.s.)]. ITT was increased in the ACL-deficient group compared with the control group (mean - 18.8 ± 4.3 and - 25.8 ± 3.8, respectively; p < 0.001). CONCLUSIONS: According to our results, increased FA was associated with ACL rupture. Further, the torsional abnormality was developed from the ITT. We concluded that each ACL-deficient patient should be assessed by a clinician for torsional abnormality using physical examination. LEVEL OF EVIDENCE: III.

A Formula to Predict the Magnitude of Achilles Tendon Lengthening Required to Correct Equinus Deformity.

OBJECTIVES: Achilles tendon lengthening (ATL) is one of the most commonly performed procedures in paediatric orthopaedic surgery. An appropriate adjustment of the amount of ATL is crucial to avoid insufficient or excessive lengthening. However, there is currently no effective method to preoperatively calculate the tendon length needed for equinus deformity correction. Thus, in this study we evaluated the accuracy of a calculation using a mathematical model based on the law of cosines. METHODS: A total of 16 feet of 14 patients who were scheduled for ATL surgery due to equinus deformity were included in the study. ATL surgery was performed using a standard Z-plasty technique. Calculation of the amount of ATL using the law of cosines, and assessments of intraoperative lengthening of the tendon, were performed in a double-blind manner. The extent of lengthening resulting from the two methods was then compared. RESULTS: The mean ATL determined intraoperatively was 23.67 ± 8.7 mm, and that obtained using the cosine-based method was 22.49 ± 8.6 mm. Thus, the new method showed excellent statistical agreement with the actual lengthening performed during surgery. CONCLUSIONS: The required dimension of ATL can be calculated preoperatively using the mathematical formula presented here. The advantages of this approach are that it allows accurate tendon lengthening and reduces the size of the surgical incision.

Comparison of two different methods in preoperative planning of the amount of lengthening in Z achilloplasty technique.

Achilles tendon lengthening (ATL) surgery is a technique that is frequently used in the surgical treatment of contracture of the Achilles tendon seen in many pediatric orthopedic problems such as cerebral palsy, clubfoot, pes planovalgus and myelomeningocele. It is important to appropriately adjust the amount of ATL. However, the literature on the preoperative calculation of the required amount of tendon lengthening is limited. The aim of the study was to compare the reliability of the two different methods of predicting the amount of ATL. Eighteen feet of 16 patients who underwent ATL with Z-plasty technique were included in the study. The required amount of ATL was calculated as double blind according to the Cosine theorem and a method that was described by Garbarino et al. in 1985 and compared with the amounts of ATL applied during the operation. The mean amount of lengthening was 25.24 mm during surgery. The required amount of lengthening was 41.55 ± 11.0 mm, according to the Garbarino's method. The required amount of lengthening was 23.93 ± 9.03 mm, according to the Cosine theorem. The quantities calculated according to the Cosine theorem showed excellent agreement with the amount of lengthening during surgery. The quantities calculated according to the Garbarino's method showed poor agreement with the amount of lengthening during surgery. The calculation of the amount of ATL required in the treatment of the equinus deformity before surgery is possible by Cosine Theorem. The method of Cosine theorem is more reliable than the previous method described by Garbarino et al.