Impact of source water quality on total organic carbon and trihalomethane removal efficiency in a water treatment plant: A case study of Upper Awash, Ethiopia.

This study addresses the limited understanding of factors affecting the efficiency of water treatment plants in reducing trihalomethane (THM) formation through total organic carbon (TOC) removal, highlighting significant challenges in improving treatment effectiveness. The aim of this study was to examine the influence of water quality on the efficiency of water treatment plants to remove TOC and reduce THM formation. Linear regression and correlation analyses were conducted to examine the relationship between water quality parameters and THM concentrations. The results showed that there was a negative relationship between turbidity, metals, and TOC concentration with TOC removal efficiency. Positive correlations were found between parameters and the formation of THMs in water. Of these parameters, water temperature was observed to have relatively less influence on THM formation. It was observed that seasonal variations in water quality affect the efficiency of TOC removal and THM content in treated water. THM levels in chlorinated water were found to be within the permissible range of the World Health Organization's drinking water quality guidelines. However, it is still important to maintain continuous monitoring and take measures to reduce THMs. The model demonstrated a strong correlation (R2 = 0.906) between predicted and measured THM values.

CPAK classification cannot be used to determine segmental coronal extra-articular knee deformity.

PURPOSE: While the coronal plane alignment of the knee (CPAK) classification serves as a useful guide in personalising total knee arthroplasty (TKA), the extent of its correlation with segmental coronal extra-articular knee deformities remains uncertain. This study aims to investigate the potential correlation between CPAK matrix groups and segmental coronal extra-articular deformities in prearthritic knees, shedding light on the relationship between these two factors that seems to be both essential to perform personalised TKA. MATERIALS AND METHODS: A radiological assessment of 1240 nonarthritic knees was performed by evaluating lower limb measurements following the protocol established by Paley et al. Subsequently, all knees were classified into their respective CPAK matrix groups. In our quest to discern any correlation between the CPAK matrix groups and the presence of segmental coronal extra-articular knee deformities, nine potential coronal extra-articular deformity phenotype (CEDP) groupswere identified based on medial proximal tibial angle (MPTA) and mechanical lateral distal femoral angle (mLDFA). Neutral values for MPTA and mLDFA were set at 90.0° ± 3.0° and then at 87.0° ± 2.0°. Each CPAK matrix group underwent detailed coronal morphology analysis and then, segmental coronal extra-articular deformities were assessed by comparing them with the CEDP groups. RESULTS: The study revealed a mean hip-knee-ankle angle (HKA) of 178.6° ± 4.4°, mLDFA of 86.9° ± 2.5°, MPTA of 85.4° ± 2.4°, arithmetic HKA of -1.4° ± 3.2° and joint line obliquity of 172.5° ± 3.7°. The varus CPAK groups (I/IV/VII) included 435 patients, the neutral groups (II/V/VIII) comprised 630 patients and the valgus groups (III/VI/IX) had 175 patients. Notably, CPAK matrix groups were not distinctly associated with specific coronal extra-articular deformity phenotype (CEDP) groups. Particularly among the most common CPAK matrix groups (I/II/III/IV/V), there was a significant variation in segmental coronal extra-articular deformity patterns. Moreover, when neutral MPTA/mLDFA values were set at 87.0° ± 2.0°, the CPAK matrix groups exhibited even greater variability in coronal extra-articular deformities. CONCLUSION: The CPAK matrix groups do not exhibit a direct correlation with a specific extra-articular deformity pattern (CEDP), thus rendering them unsuitable for determining segmental coronal extra-articular knee deformities. LEVEL OF EVIDENCE: Level III, retrospective diagnostic study.

Constitutional varus knee due to tibial deformity is common and represents a good indication for high tibial osteotomy in Japanese population: Consideration of 1010 knees.

PURPOSE: This study aimed to elucidate the characteristics of varus knee deformities in the Japanese population, prevalence of various around knee osteotomy procedures and influence of femoral and tibial bowing. METHODS: Varus knee deformity was defined as a weight-bearing line ratio of <50%. A total of 1010 varus knees were selected from 1814 varus knees with weight-bearing full-length radiographs, obtained at two facilities, based on exclusion criteria. Various parameters were measured, and around knee osteotomy simulations based on the deformity centre were conducted using digital planning tools. Bowing of the femoral and tibial shafts was measured, with bowing defined as follows: ≤ -0.6° indicating lateral bowing and ≥ 0.6° indicating medial bowing. Statistical analysis was performed to investigate age-related correlations and their impact on surgical techniques. RESULTS: The study revealed that the proximal tibia was the centre of deformity in Japanese varus knees (42.8%), and high tibial osteotomy was frequently indicated (81.6%). Age demonstrated a mild correlation with femoral shaft bowing (r = -0.29), leading to an increase in the mechanical lateral distal femoral angle and to a decrease in the hip-knee-ankle angle and weight-bearing line ratio (r = -0.29, 0.221, 0.219). The tibial shaft bowing was unaffected by age (r = -0.022). CONCLUSION: A significant proportion of Japanese individuals with varus knees exhibit a deformity centre located in the proximal tibia, making them suitable candidates for high tibial osteotomy. No age-related alterations were discerned in tibial morphology, indicating that the occurrence of constitutional varus knees is attributable to tibial deformities in the Japanese patient cohort. LEVEL OF EVIDENCE: Level IV.

Guided Growth to Treat Anterolateral Tibial Bowing Associated with Congenital Pseudarthrosis of the Tibia.

BACKGROUND: Anterolateral tibial bowing associated with congenital tibial pseudarthrosis occurs often in patients with neurofibromatosis type 1 and results from the inability of the fractured bone to unite, leading to persistent nonunion, abnormal bone growth, and further bowing of the tibia. Current surgical and nonsurgical approaches demonstrate persistent nonunion or refracture, often resulting in amputation. METHODS: This report describes the management of 3 patients with anterolateral tibial bowing and NF1 who underwent distal tibia-guided growth. RESULTS: The patients had an average age of 1.6 years at initial operation, with a total of 3 to 4 surgeries over an average of 2.1 years. The latest follow-up on all patients is included, at a mean of 5.1 years after the initial operation. All 3 patients experienced substantial functional improvement and improved alignment of the mechanical axis of the tibia. One patient has experienced refracture. CONCLUSIONS: Our study indicates that guided growth can serve as an additional surgical option to improve ALTB and potentially reduce the risk of fracture and pseudarthrosis by restoring normal mechanical alignment. LEVEL OF EVIDENCE: Level-IV, Case Series.

Effect of Solitary Osteochondroma on Alignment and Length in the Lower Extremities.

BACKGROUND: There is a lack of information about the effects of untreated solitary osteochondroma (SO) on longitudinal growth of the lower extremities in children and adolescents. This study aimed to assess the coronal alignment and length of the lower extremity in patients with SO around the knee and to identify the factors related to the development of deformities. METHODS: We retrospectively reviewed 111 patients diagnosed with SO around the knee. The patients were classified into 2 groups depending on the location of the SO: 51 in the distal femur and 60 in the proximal tibia. Characteristics of the lesions, such as type, location, size, and distance from the joint line, were determined. Radiographic analysis of the lower limbs included mechanical lateral distal femoral angle, mechanical medial proximal tibial angle, whole-leg length, femoral length, and tibial length. RESULTS: The mean age at the time of diagnosis was 12.3±3.4 years. No statistically significant differences were found between the affected and contralateral sides for mechanical lateral distal femoral angle and mechanical medial proximal tibial angle in either the distal femur or the proximal tibia groups. In patients with femoral lesions, the femoral and whole-leg lengths were significantly shorter on the affected side than on the unaffected side ( P <0.001 and 0.002, respectively), and the mean differences were 2.1±3.6 and 2.1±4.4 mm, respectively. Univariate logistic regression analysis did not reveal any factors associated with limb length discrepancy (LLD). In patients with tibial lesions, no statistically significant differences were found in LLD. CONCLUSIONS: SOs around the knee did not cause clinically significant deformity of the lower extremity. However, in contrast to proximal tibia lesions, SO in the distal femur was associated with the shortening of the affected limb. Consideration should be given to the development of LLD in skeletally immature children with SO in the distal femur. LEVEL OF EVIDENCE: Level III-retrospective comparative study.

Lengthening in congenital posteromedial bowing of tibia: a follow-up series at skeletal maturity.

PURPOSE: Congenital posteromedial bowing (CPMB) of tibia is a rare, usually self-resolving condition that is present at birth. The data on the long-term outcome of lengthening, choice of fixator, outcome in early and late age groups, and complications is sparse, hence the need for this study. METHODS: This retrospective study included 93 patients with 94 affected legs from 1991 to 2023. The patients were categorized into early (under 10 years) and late (10 years or above) intervention groups. Eighteen patients with nineteen lengthening episodes who attained skeletal maturity made the basis of this study and will be discussed in detail. RESULTS: The outcome for the lengthening group at maturity was satisfactory, with 5.53 cm of average length gained per lengthening episode, a mean LLD of 0.31 cm at final follow-up, a mean age of 23.63 years (range 14-38 years), and an average follow-up of 12.51 years (range 3-28 years) post-lengthening, but the procedure was associated with difficulties like ankle stiffness, tibial valgus, pin tract infections, and fractures through regenerate. CONCLUSION: This study represents a large single-centre series on CPMB. We recommend that surgery for lengthening should be done at an older age, close to skeletal maturity, wherever possible to reduce the risk of repeat lengthening procedures. Based on our experience, we recommend the use of a circular fixator. Uniplanar distractors should have an adequate number and spread of Schanz screws in each segment to reduce the risk of valgus malalignment of distracting segments of bone.

Factors influencing correction rate following hemiepiphysiodesis using tension band plates for deformities around the knee: a multivariate analysis study.

PURPOSE: The aim of this study was to appraise various factors influencing the correction rate in temporary hemiepiphysiodesis (THE) around the knee joint. Specifically, the study analysed the relationship of correction rate with age, gender, aetiology, type and location of deformity. METHODS: The retrospective study included children who underwent THE for a coronal plane deformity (genu valgus or varum) around the knee joint (distal femur or proximal tibia) over a ten year period (2010-2020). The primary outcome of interest was the correction rate of the deformity. RESULTS: Thirty-three children (27 females and 6 males) with a mean age of 8.1 years involving 86 plates were included in the study. The mean correction achieved was 12.2° over a treatment period of 13.3 months. Subgroup analysis showed significant differences between the type (varus (0.8° per month), valgus (1.1° per month)) and the location of deformity femur (1.2° per month) and tibia (0.7° per month)]. On multivariate analysis, the location and the duration of treatment showed significant associations with the correction rate. CONCLUSION: The correction of coronal deformities following temporary hemiepiphysiodesis is influenced by several factors. Valgus, femoral and deformities in younger children correct at a faster rate. Location of deformity and duration of treatment emerged as potential factors affecting the correction rate.

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (MIM 246570) is a rare disorder characterized by specific skeletal findings (fibular aplasia, shortened or bowed tibia, and oligosyndactyly of the foot and/or hand). Typically, no other anomalies, craniofacial dysmorphism, or developmental delays are associated. Here we report three unrelated individuals with limb anomalies consistent with FATCO syndrome who have been followed clinically for 5 years. Genetic testing of previously reported individuals with FATCO syndrome has not revealed a genetic diagnosis. However, no broader sequencing approaches have been reported. We describe the results of the three individuals with FATCO syndrome from exome and genome sequencing, all of which was nondiagnostic. Our study suggests that FATCO syndrome is not the result of a simple monogenic etiology.

Fatty filum terminale and low-lying conus medullaris in Gollop-Wolfgang complex: a case report and review of literature.

BACKGROUND/IMPORTANCE: Gollop-Wolfgang complex is a rare skeletal dysplasia with only 200 cases reported in the literature. This disorder is usually associated with several extraosseous anomalies. This report describes the first case of a fatty filum terminale and a low-lying conus medullaris in a patient with this complex. A review of the current literature of the Gollop-Wolfgang complex accompanies this case, highlighting the documented extraosseous anomalies seen in this complex. CLINICAL PRESENTATION: We report a case of an 18-month-old patient with Gollop-Wolfgang complex who underwent cord untethering with release of the filum terminale after extensive workup showed the presence of a dyssynergic bladder and radiological evaluation revealed a fatty filum terminale and low-lying conus medullaris. CONCLUSION: Gollop-Wolfgang complex is a skeletal dysplasia usually associated with several extra skeletal anomalies. Our report describes the first case of a fatty filum terminale and low-lying conus medullaris in this complex, as well as provides an overview of the documented anomalies seen in this disorder. A multidisciplinary approach is recommended when treating these infants in order to ensure that occult manifestations of the complex are not missed.

Congenital Pseudarthrosis of the Tibia: Long-term Outcome of Treatment With Intramedullary Vascularized Fibular Graft Combined With Ilizarov Distraction.

BACKGROUND: Late presenting cases of congenital pseudarthrosis of the tibia, are further complicated with severe shortening. Limb length discrepancy (LLD) cannot be corrected by vascularized fibular grafting and the use of Ilizarov distraction is associated with a high rate of complications. The aim of this study was to report the long-term follow-up of a combined technique previously published under the name "telescoping vascularized fibular graft". MATERIALS AND METHODS: Eleven patients operated at an average age of 10.2±3.2 years were reviewed. All cases were Crawford type IV affected by neurofibromatosis 1. Nine patients had an average of 4.3 previous operations. Preoperative LLD averaged 7.9±2.5 cm. RESULTS: Follow-up averaged 10±5.4 years. Seven cases (63.6%) reached skeletal maturity before final follow-up. Primary union was achieved in all cases after an average of 7.2±1.3 months. Full weightbearing was possible after an average of 10.6±2.2 months. Recurrent stress fractures occurred in 9 cases (81.8%) and healed with casting in 6 cases and required internal fixation in 3 cases. Eight cases (72.8%) developed tibial shaft deformities, mainly procurvatum that required corrective osteotomy in 2 cases. Final LLD averaged 2.7±1.3 cm. Complete tibialization of the graft was achieved after an average of 17.0 ± 3.6 months. Valgus deformity of the ipsilateral ankle averaged 12.4 degrees±7.5. CONCLUSION: The presented technique avoids osteotomy of the diseased bone and allows simultaneous treatment of the pseudarthrosis and correction of shortening. Compared with conventional bone transport, it requires shorter time of frame application and therefore better patient tolerability because there is no waiting for consolidation of the regenerate. The dis-impaction of the doweled fibula occurs proximally, allowing the less active site located at the distal aspect of the pseudarthrosis to heal without displacement. A shortcoming of the presented technique is the more propensity for axial deviation and refractures that seldom require surgery. LEVEL OF EVIDENCE: Level-IV.

The Perils of Sleeper Plates in Multiple Hereditary Exostosis: Tibial Deformity Overcorrection Due to Tether at Empty Metaphyseal Hole.

BACKGROUND: Hemi-epiphysiodesis is the mainstay of treatment for angular deformities at the knee in children with multiple hereditary exostosis (MHE). Upon deformity correction, the metaphyseal screw may be removed from the hemi-epiphysiodesis plate, the sleeper plate technique, with anticipated reimplantation of the metaphyseal screw should the original deformity recur. The aim of the present study is to compare the incidence of complications with the sleeper plate technique with complete plate removal in an MHE cohort. METHODS: Patients under the age of 18 with MHE who underwent hemi-epiphysiodesis of the proximal tibia and/or distal femur between February 1, 2016, and February 6, 2022 with a minimum 2-year follow-up or follow-up to skeletal maturity were identified via ICD-10 codes. Patient charts and radiographic images were reviewed to assess for the bone(s) treated, the use of sleeper plates, and whether any complication occurred, including overcorrection from bony ingrowth at the empty holes or deformity recurrence. RESULTS: In 13 patients, 19 knees underwent hemi-epiphysiodesis at 30 sites; 13 distal femoral and 17 proximal tibial. Of 30 plates, 18 (60%) were removed completely upon deformity correction and 3 (10%) did not require removal due to skeletal maturity. Four of 13 (30.8%) femoral plates and 5 of 17 (29.4%) tibial plates were left as sleeper plates. All 5 tibial sleeper plates developed bony ingrowth into the empty metaphyseal screw hole, which led to unintended progressive deformity overcorrection. In the majority of cases, the deformity was addressed by the removal of the plate and exophytic bone and hemi-epiphysiodesis on the other side of the affected proximal tibia with subsequent resolution of the deformity. CONCLUSIONS: All tibial sleeper plates developed bony ingrowth into the screwless metaphyseal hole. The bony ingrowth functioned as a tether, resulting in progressive deformity overcorrection. Sleeper plates should be avoided at the proximal tibia in patients with MHE, and extreme caution should be exercised when considering this technique at the distal femur or other sites. LEVELS OF EVIDENCE: Level III-retrospective comparative study.

Predicting Success of Deformity Correction With Tension Band Plating in Early-Onset Tibia Vara.

BACKGROUND: Angular deformity correction with tension band plating has not been as successful in early-onset tibia vara (EOTV) as it has been in other conditions. Our hypothesis is that perioperative factors can predict the success of lateral tibial tension band plating (LTTBP) in patients with EOTV. METHODS: A retrospective review was performed at 7 centers evaluating radiographic outcomes of LTTBP in patients with EOTV (onset <7 y of age). Single-event tibial LTTBP outcome was assessed through medial proximal tibial angle (MPTA). The final limb alignment following comprehensive limb growth modulation (CLGM), which could include multiple procedures, was assessed by mechanical axis zone (MAZone), mechanical tibio-femoral angle (mTFA), and mechanical axis deviation (MAD). Preoperative age, weight, deformity severity, medial physeal slope, and Langenskiöld classification +/- modification were investigated as predictors of outcome. Success was defined as the correction or overcorrection to normal age-adjusted alignment. The minimum follow-up was 2 years except when deformity correction, skeletal maturity, or additional surgery occurred. RESULTS: Fifty-two patients with 80 limbs underwent 115 tibial LTTBP procedures at a mean age of 5.3 y, including 78 primary, 21 implant revisions, and 15 reimplantations for recurrence. Tibial LTTBP resulted in a mean change of +8.6 o in MPTA and corrected 53% of tibias. CLGM resulted in MAD correction for 54% of limbs.Univariate analysis showed that success was best predicted by preoperative age, weight, MPTA, and MAD. Multivariate analysis identified that preoperative-MPTA/MAD and preoperative-weight<70 kg were predictive of MPTA and MAD correction, respectively. The probability of success tables are presented for reference. CONCLUSION: Successful correction of MPTA to age-adjusted norms following a single-event LTTBP occurred in 53% of tibias and was best predicted by preoperative-MPTA and preoperative body weight <70 kg. Comprehensive growth modulation corrected limbs in 54%. The probability of correction to age-adjusted MAD is best estimated by preoperative-MAZone 1 or 2 (MAD ≤40 mm). Limbs with preoperative-MAD>80 mm improved, but ultimately all failed to correct completely with CLGM. Osteotomy may need to be considered with these severe deformities. While modified Langenskiöld classification and medial physeal slope have been shown to predict the outcome of osteotomy, they were not predictive for LTTBP. Change in MPTA was common after physeal untethering. LEVEL OF EVIDENCE: Level-III.

Femoral Deformity in Tibia Vara and Its Response to Growth Modulation.

BACKGROUND: While tibia vara is a disorder of the proximal tibial physis, femoral deformity frequently contributes to the overall limb malalignment. Our purpose was to determine how femoral varus deformity in tibia vara responds to growth modulation, with/without lateral tension band plating (LTBP) to the femur. METHODS: One-hundred twenty-seven limbs undergoing LTBP for tibia vara were reviewed. All had tibial LTBP and 35 limbs also had femoral LTBP for varus. Radiographs were measured for correction of the mechanical lateral distal femoral angle (mLDFA) and mechanical axis deviation (MAD). Preoperative-femoral varus was defined with an age-adjusted guide: mLDFA >95 degrees for 2 to below 4 years and mLDFA >90 degrees for 4 to 18 years. The 35 limbs having femoral LTBP were compared with 50 limbs with femoral varus and no femoral LTBP. In addition, 42 limbs that did not have preoperative-femoral varus were followed. Patients with early-onset (below 7 y) tibia vara were compared with those with late-onset (≥8 y). Outcome success was based on published age-adjusted mLDFA and MAD norms. RESULTS: Following femoral LTBP, the mean mLDFA decreased from 98.0 to 87.1 degrees. All femurs had some improvement, with 28/35 femurs (80%) achieving complete correction. One limb, with late follow-up, overcorrected, requiring reverse (medial) femoral tension band plating.For the 50 limbs with femoral varus and only tibial LTBP, 16/22 limbs (73%) with early-onset and 11/28 limbs (39%) with late-onset completely corrected their femoral deformities. If the limb had preoperative-femoral varus, femoral LTBP statistically correlated with successful mLDFA correction and improvement of MAD, only in the late-onset group.Forty-two limbs, without preoperative-femoral varus, had no change in their mean mLDFA of 87 degrees. However, 4 femurs (10%) ended with posttreatment varus. CONCLUSIONS: Femoral LTBP is effective in correcting femoral varus deformity in the tibia vara. For femoral varus associated with late-onset tibia vara, femoral LTBP should be considered. Those that had femoral LTBP had statistically more successful femoral and overall limb varus correction. However, in early-onset tibia vara, with associated femoral varus, observation is warranted because 73% of femurs are corrected without femoral intervention. This study was underpowered to show additional improvement with femoral LTBP in the early-onset group. Even limbs with normal femoral alignment, should be observed closely for the development of femoral varus, during tibial LTBP treatment for tibia vara. LEVEL OF EVIDENCE: Level III.

Outcomes of Limb Lengthening With Computer-assisted Hexapod External Fixators in the Treatment of Fibular Hemimelia.

BACKGROUND: Fibular hemimelia (FH) represents the most common deficiency of the long bones and is associated with multiple deformities. Reconstructive treatment with external fixators in FH restores normal lower extremity alignment and length with plantigrade feet for a balanced and effective gait. The aim of this study is to evaluate the outcomes of lower limb lengthening and simultaneous tri-plane deformity correction with a computer-assisted hexagonal external fixator in children with FH. METHODS: A retrospective review was performed for FH cases treated with a computer-assisted hexagonal external fixator in a tertiary referral center. Leg length discrepancy (LLD), interphyseal angles, tibiocalcaneal distances, healing index (HI), and callus shapes were analyzed for radiologic evaluation, and the Pediatric Quality of Life Inventory (PedsQL) was used for functional assessment. Limbs with HI <50 days/cm, PedsQL >75, and without regenerate fractures were considered successful lengthenings. RESULTS: Twenty-four limbs of 23 patients were included. The limbs were lengthened for a mean of 7.24 cm (range, 4.7 to 15.6). The initial LLD of 5.6 cm (range, 0.5 to 19 cm) increased to 1.7 cm (range, 0.1 to 6 cm), and the mean interphyseal angle was 12.7 degree (range, 1.5 to 54.2 degree), tibiocalcaneal distance was 0.85 cm (range, 0.1 to 1.7) at final follow-up. The most common regenerated bone morphology was cylindrical, as seen in 11 limbs (45.8%). The average PedsQL score was 83.5 (range, 69.5 to 96.7). Sixteen limbs (66.7%) had successful lengthening at their first, and 4 limbs (80%) had successful lengthening at their second surgeries. Seven limbs had complications requiring surgical intervention (29.1%), with 3 (12.5%) regenerate fractures after external fixators removal. CONCLUSIONS: Limb reconstruction with computer-assisted hexapod fixators is a successful and reliable option for the treatment of LLD in FH, and patients demonstrate good functional outcomes. Surgeons should be aware of potential complications and should utilize prophylactic measures when necessary. LEVELS OF EVIDENCE: Level III, retrospective comparative study.

Hemiepiphysiodesis for Lower Extremity Coronal Plane Angular Correction in the Distal Femur and Proximal Tibia in Children With Achondroplasia.

BACKGROUND: Achondroplasia is the most prevalent form of skeletal dysplasia, affecting more than 250,000 individuals. Lower extremity angular deformities, particularly genu varum, are common in children with achondroplasia, often resulting in pain and limitation of function. The authors aim to determine the utility of lower extremity growth modulation with hemiepiphysiodesis in children with achondroplasia for correction of coronal plane deformities about the knee. METHODS: The authors performed a retrospective chart review of a single center from 1/1/2000 to 12/31/2020 to identify pediatric patients with achondroplasia treated with hemiepiphysiodesis as their initial procedure at the distal femur and/or proximal tibia. Patients with adequate records and who had completed their treatment were included. Data collected included duration of treatment, complications, need for osteotomy, and radiographic measurements including initial and final mechanical axis deviation, knee mechanical axis zone, mechanical lateral distal femoral angle and medial proximal tibia angle. RESULTS: Ten patients with 17 limbs met our criteria. Nine patients (15 limbs) were treated for genu varum and 1 patient (2 limbs) was treated for genu valgum. Prior to treatment, the mechanical axis fell in zone 3 in 59% of limbs and zone 2 in 41%. Average correction in mechanical axis deviation was 26.1 mm. Average change in mechanical lateral distal femoral angle was 10.3 degrees per limb, and average change in medial proximal tibia angle was 7.1 degrees per limb. Average treatment duration was 909 days. At final follow up, 81% (14/17) of limbs had the mechanical axis in zone 1, with the remaining 18% (3/17) in zone 2. No patient/limb underwent subsequent distal femur or proximal tibia osteotomy for coronal plane alignment. CONCLUSIONS: Children with achondroplasia can successfully be treated with hemiepiphysiodesis to correct coronal plane deformities at the distal femur and proximal tibia. Using this technique, no patient in our series required an osteotomy for genu varum/valgum. LEVEL OF EVIDENCE: Therapeutic level IV, Case series.

New bone formation accelerates during lower limb lengthening and deformity correction in children with Ollier's disease.

BACKGROUND: Ollier's disease can cause severe length discrepancy of the lower extremities and deformity in children. Osteotomy and limb lengthening with external fixation can correct the limb deformity. This study evaluated (1) whether the duration of external fixation was reduced in patients with Ollier's disease, and (2) the incidence of complications such as pin tract infection, external fixation loosening, and joint stiffness. METHODS: Two groups were compared with respect to age, angular correction (AC), lengthening gap (LG), distraction index (DI), lengthening length (LL), lengthening length percentage (L%), lengthening index (LI), bone healing index (BHI), and external fixation index (EFI). Group 1 (Ollier's disease) comprised nine patients undergoing 11 lower limb lengthening procedures using external fixators; group 2 (control, normal lengthened bone) comprised 28 patients undergoing 29 lengthening procedures with external fixators. RESULTS: In patients with Ollier's disease, full correction of the deformity and full restoration of length were achieved in all cases. In the femur, the mean AC (15.97° vs. 6.72°) and DI (1.11 mm/day vs. 0.78 mm/day) were significantly larger, while the LI (9.71 days/cm vs. 13.49 days/cm), BHI (27.00 days/cm vs. 42.09 days/cm), and EFI (37.86 days/cm vs. 56.97 days/cm) were all significantly shorter in group 1 than in group 2 (p < 0.05). In the tibia, the mean AC and L% were larger, while the LG, LI, BHI, and EFI were all shorter in group 1 than in group 2. There was no significant difference between the two groups in the incidence of complications. CONCLUSION: In children with Ollier's disease, new bone formation accelerated and the healing speed of the lengthened segments was faster throughout the whole lengthening period with external fixation, and full correction of the deformity and full restoration of length could be achieved.

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.

Up to 84% of patients with congenital pseudarthrosis of the tibia (CPT) present with neurofibromatosis type 1 (NF1) (NF1-CPT). However, the etiology of CPT not fulfilling the NIH diagnostic criteria for NF1 (non-NF1-CPT) is not well understood. Here, we collected the periosteum tissue from the pseudarthrosis (PA) site of 43 non-NF1-CPT patients and six patients with NF1-CPT, together with the blood or oral specimen of trios (probands and unaffected parents). Whole-exome plus copy number variation sequencing, multiplex ligation-dependent probe amplification (MLPA), ultra-high amplicon sequencing, and Sanger sequencing were employed to identify pathogenic variants. The result showed that nine tissues of 43 non-NF1-CPT patients (21%) had somatic mono-allelic NF1 inactivation, and five of six NF1-CPT patients (83.3%) had bi-allelic NF1 inactivation in tissues. However, previous literature involving genetic testing did not reveal somatic mosaicism in non-NF1-CPT patients so far. In NF1-CPT patients, when the results from earlier reports and the present study were combined, 66.7% of them showed somatic NF1 inactivation in PA tissues other than germline inactivation. Furthermore, no diagnostic variants from other known genes (GNAS, AKT1, PDGFRB, and NOTCH3) related to skeletal dysplasia were identified in the nine NF1 positive non-NF1-CPT patients and six NF1-CPT patients. In conclusion, we detected evident somatic mono-allelic NF1 inactivation in the non-NF1-CPT. Thus, for pediatric patients without NF1 diagnosis, somatic mutations in NF1 are important.

Combination Treatment by Cross-Union of the Tibia and Fibula, Autogenic Iliac Bone Grafting, Reliable Fixation and Bone Morphogenetic Proteins for the Treatment of Refractory Congenital Pseudarthrosis of the Tibia.

BACKGROUND: The treatment of congenital pseudarthrosis of the tibia (CPT) remains a challenge because of the difficulties of achieving and maintaining bone union, as well as complications of joint deformity and limb-length discrepancy. The purpose of this study was to evaluate the efficacy of cross-union of the tibia and fibula in achieving union and preventing refracture for patients with refractory CPT as a complementary approach to improve upon conventional surgical treatments. METHODS: A retrospective study including patients with refractory CPT who attended our department between June 2014 and August 2020. Eighteen CPT patients, who had sustained refracture that required cast immobilization or secondary surgery, and were managed by pseudarthrosis resection, cross-union of the tibia and fibula, bone morphogenetic protein-2 and autogenous iliac bone grafting, were included. Clinical outcomes of the bone union rate and the frequency of refracture after performing cross-union of the tibia and fibula were assessed during the follow-up period. RESULTS: The mean follow-up period was 4.3 years (range: 1.5 to 6.25 y). The mean age of the patients at surgery was 5.4 years (range: 2.6 to 10 y), and all 18 (100%) of the 18 patients had final healing at the site of pseudarthrosis. The average time spent to achieve radiologic bone union of the pseudarthrosis after operation was 2.96 months (range: 2.2 to 4.1 mo). Two (11.1%) patients had an average 2.5 cm limb-length discrepancy, none (0%) sustained refracture which needed cast immobilization or secondary surgery. Patients were all pain-free and move actively. CONCLUSIONS: Cross-union of the tibia and fibula is a promising complementary procedure for treating refractory CPT patients. LEVEL OF EVIDENCE: Level IV-case series.

Efficacy Comparison of 3 Kinds of Distal Tibial Hemiepiphyseal Implants in the Treatment of Postoperative Ankle Valgus of Congenital Pseudarthrosis of the Tibia.

BACKGROUND: Congenital pseudarthrosis of the tibia (CPT) is a complex and serious disease in orthopaedics which often requires multiple operations for treatment. Postoperative ankle valgus deformity is easily seen after the operation of CPT. The aim of this study is to retrospectively evaluate the effectiveness of three different implants for treating postoperative ankle valgus after CPT. METHODS: A total of 41 patients with postoperative ankle valgus after CPT from December 2010 to July 2019 were selected. Of these 41 patients, 23 patients were treated with "U"-shaped staple, 10 patients were treated with hollow screw and 8 patients were treated with cortical bone screw. The evaluation index was tibiotalar angle. The general data, preoperative, postoperative, and final follow-up imaging data were recorded, and the deformity correction rate and complications were compared. RESULTS: All the patients were performed with postoperative follow-up visit for at least 12 months (31 mo on average). In the "U"-shaped staple group, the preoperative tibiotalar angle was 74.8±4.8 degrees, the tibiotalar angle was 85.8±4.5 degrees when the internal fixation was removed; in the hollow screw group, the average preoperative tibiotalar angle was 72.2±6.1 degrees, the average tibiotalar angle was 88.4±5.1 degrees when the internal fixation was removed; in the cortical bone screw group, the average preoperative tibiotalar angle was 75.1±4.2 degrees, the average tibiotalar angle was 88.4±5.1 degrees when the internal fixation was removed. The correction rate of the "U"-shaped staple group was 0.71 degrees/month, with that of in the hollow screw group and cortical bone screw group being 0.64 degrees/month and 0.61 degrees/month, respectively. There was no significant difference in the correction rate between the 3 groups. One case of internal fixation complication was reported in the hollow screw group; 2 cases of missing correction effect were reported, 1 in cortical bone screw group and 1 in hollow screw group; and 2 cases showing symptom of wound pain were reported in the "U"-shaped staple group. CONCLUSION: Ankle valgus is a common postoperative complication of congenital tibial pseudarthrosis. Temporary hemiepiphysiodesis with "U"-shaped staple or screws is an effective treatment for postoperative ankle valgus deformity of CPT in children. LEVEL OF EVIDENCE: Level IV-retrospective study.

Two-stage Bone Lengthening With Reuse of a Single Intramedullary Telescopic Nail in Patients With Achondroplasia.

BACKGROUND: Patients with achondroplasia may benefit from limb-lengthening surgery with telescopic intramedullary nails (TIMNs). However, the 5-cm maximum length of the nails used in these patients in their original design may be insufficient. The aim of this research is to analyze the outcomes and complications after reusing the same TIMN for a second consecutive 5-cm lengthening in patients with achondroplasia. METHODS: Retrospective study of 26 bones (16 femurs and 10 tibias) in 9 patients with achondroplasia treated for bilateral 2-stage sequential lengthening reusing the same TIMN. On completion of a first stage of 5 cm of elongation, the nail was unlocked, retracted, and re-locked; a second stage of 5 cm of distraction followed. Radiologic and clinical parameters were measured preoperatively and postoperatively, and complications were recorded. RESULTS: The median age of patients at first surgery was 13.54 (12.9 to 16.3) years; 55% were males. The median preoperative height was 121 (117.5 to 127) cm, and the median healing index was 18.12 (14.5 to 32.8) and 26.96 (23.3 to 31.6) d/cm, while time to weight bearing was 185.5 (144.8 to 308.5) and 242.5 (208.5 to 293.8) days for femurs and tibias, respectively. Major complications included 3 cases of moderate ankle equinus, 2 cases of hardware failure (failure to relengthen), 2 premature consolidations, 1 common peroneal neurapraxia, and 2 valgus deformities. Femoral procedures had significantly fewer complications than tibial interventions (7 vs. 15, P=0.03), whereas patients who underwent lengthening of both the femur and tibia did not have significantly higher complication rates (14 vs. 8, P=0.6). CONCLUSIONS: This study analyzes lower-limb lengthening in a series of achondroplastic patients using TIMN with the novelty of nail reuse to relengthen the bone. The complication rate found is acceptable, among which, potential damage to the internal lengthening mechanism must be considered, though this complication can usually be easily resolved. Overall, nail reuse seems advisable in cases where bone elongation is indicated, and the size and design of the nail limits the extent of lengthening. LEVEL OF EVIDENCE: Level III, retrospective comparative study, before and after intervention.