Genu Varum Research Articles

The Manifestations and Complications of X-linked Hypophosphatemia in Saudi Arabia: A Retrospective Study

Background: X-linked hypophosphatemia (XLH) is a genetic disease of phosphate metabolism in which inactivating mutations of the phosphate regulating endopeptidase homolog, X-linked (PHEX) gene lead to local and systemic effects. In our pediatric clinics, XLH was observed to be associated with multiple complications despite conventional treatment. There is a need for novel treatment modalities to prevent disease progression and aid in the resolution of symptoms. Methods: This retrospective cross-sectional study aimed to understand the manifestations and complications of XLH in patients followed up at the endocrinology clinics in King Faisal Specialist Hospital and Research Center in Saudi Arabia. The study was conducted by reviewing the medical files of all XLH patients at the King Faisal Specialist Hospital and Research Center. Results: All the patients (N=24) who were included in this study had PHEX gene mutations. The mean age was 18.7 13.6 years and 68% were females. The mean height standard deviation score (HSDS) was ‑2.96 (-5.25 to -0.97) and 12 patients reached their final height (mean final HSDS, -3.28 [-1.39 to ‑5.39]). Skeletal deformities (mainly genu varum) were observed in 68% of the patients and 29% had craniosynostosis; 54% had undergone corrective osteotomy. Hyperparathyroidism was observed in 54% of the patients and 45% of the patients had nephrocalcinosis (grades 2/3). Conclusions: In our study, a majority of the XLH patients suffered from complications arising from the use of conventional therapy, thus indicating the need for novel treatment modalities for these patients. Additionally, no correlation between genotype and phenotype was found.

Myopia and systemic manifestation of tissue hyperlaxity: A population-based cross-sectional study.

Whether non-syndromic connective tissue hyperlaxity is associated with myopia is unknown. The aim of this study was to examine the association between systemic signs of tissue hyperlaxity and myopia among adolescents. Included were adolescents assessed before mandatory military service at the age of 16-18 years between 2011 and 2022. Diagnoses of hernias, pes planus, genu varus, genu valgum, and scoliosis, as well as joint injuries were used as surrogate markers for tissue hyperlaxity. The prevalence of these events among adolescents with myopia was evaluated and compared to the non-myopic population. Included were 920 806 adolescents. The mean age was 17.4 ± 1.4 years and 58.6% were men. Myopia was diagnosed in 290 759 adolescents (31.6%) and high myopia in 24 069 adolescents (2.6%). The prevalence of hernias was higher among adolescents with myopia, (2.76%, 95% confidence interval (95% CI): 2.69%-2.82% vs. 2.60%, 95% CI: 2.57%-2.65%), as were pes planus (14.92%, 95% CI: 14.79-15.05 vs. 13.51%, 95% CI: 13.42-13.59) and scoliosis (9.14%, 95% CI: 9.03-9.24 vs. 7.69%, 95%CI: 7.62-7.76). The prevalence of joint injuries was clinically similar between groups (less than 0.1% difference for ankle, shoulder, and knee injuries), as were genu varum and genu valgum (0.66%, 95%CI: 0.64%-0.69% vs. 0.68%, 95% CI: 0.66-0.70, respectively). Adjusted for possible confounders results remained consistent. Among a large sample of Israeli adolescents, those with myopia had a higher prevalence of hernias, pes planus, and scoliosis. These results could suggest a propensity for systemic conditions related to tissue laxity among myopic adolescents.

6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets

Abstract Disclosure: G. Umarji: None. F. Thelmo: None. S.A. Jabbour: None. Vitamin D-dependent rickets type 2A (VDDR2A) also known as hereditary 1,25 (OH)2D resistant rickets is due to biallelic loss-of-function mutations in the gene encoding vitamin D receptor on chromosome 12q13.11, thus, it represents a true form of tissue resistance to vitamin D. It is a scarce form of rickets with approximately only 120 cases reported. A 37-year-old male was referred to endocrinology by neurosurgery for evaluation of metabolic bone disease. Seven years ago, he was in a car accident which resulted in a lumbar spine injury causing radiculopathy and severe low back pain leading to lumbar spine decompression/fusion. However, he suffered from nonunion of bones and had to undergo another surgery a year later with recurrent postoperative nonunion of bones. During the operation, the surgeon noticed that his spine seemed demineralized. He had a history of multiple minor fractures in childhood, decreased hearing in left ear for two years, fragile teeth for many years, and some hair loss since age 30. Physical exam showed a height of 1.82 m, weight 89.3 kg with body mass index of 26 kg/m2, broken teeth, no leg bowing and normal stance. Laboratory results showed normal renal function, thyroid function tests and testosterone level, corrected calcium 8.3 mg/dL (8.7-10.2), 25-OH-vitamin D 54 ng/mL (30-100), phosphorus 2.8 mg/dL (2.8-4.1), intact parathyroid hormone 65 pg/mL (15-65), bone-specific alkaline phosphatase 21 mcg/L (4-27), 24-hour urine calcium 156 mg/day (100-300), 24-hour urine phosphorus 1,752 mg/day (390-1,425), FGF-23: 93 RU/mL (44-215) and 1,25 (OH)2D 92 pg/mL (24-81.5). Dual absorptiometry of the lumbar spine and hip showed osteopenia with Z scores of -2.2 and -1.2 respectively. Genetic testing for metabolic bone disease panel showed heterozygous mutation in VDR gene at nucleotide position c.146+9dup associated with autosomal recessive VDDR2A. We present a very rare form of vitamin D resistant rickets. As many patients with VDDR2A are unable to respond to any form of vitamin D, it is suggested that VDDR2 be more appropriately described as hereditary 1,25 (OH)2D resistant rickets (HVDRR), hereditary resistance to 1,25 (OH)2D, or even pseudovitamin D-deficiency type IIA (PDDR IIA). Clinical features include severe rickets, bone pain, hypotonia, dental caries and alopecia. Biochemical features include hypocalcemia, hypophosphatemia, normal to elevated alkaline phosphatase, normal 25(OH)D and importantly, elevated 1,25-(OH)2D levels. Management is with high doses of calcium and vitamin D therapy. While rare, this disease highlights the need for a comprehensive evaluation of metabolic bone diseases and a thorough understanding of calcium and vitamin D metabolism. Presentation: 6/2/2024

Evaluating the Effectiveness of a Structural Allograft in Medial Open Wedge High Tibial Osteotomy in Patients With and Without a Lateral Hinge Fracture.

A lateral hinge fracture is a common complication in medial open wedge high tibial osteotomy (MOWHTO) and is associated with delayed union or nonunion. A comparison of outcomes between patients with or without a lateral hinge fracture after MOWHTO with a structural allograft has not been investigated. To validate the outcomes of MOWHTO with a structural allograft, especially in the presence of a lateral hinge fracture. Case series; Level of evidence, 4. We conducted a single-surgeon cohort study at a tertiary referral hospital between April 2017 and August 2022 and included patients who had undergone MOWHTO with a structural allograft for isolated medial compartment osteoarthritis with genu varum. We compared the incidence of delayed union or nonunion events and functional scores between patients with a lateral hinge fracture and those without using the Fisher exact test and independent t test. A total of 88 MOWHTO procedures (77 patients) were analyzed. The overall incidence of lateral hinge fractures was 29.5% (n = 26), including type I (n = 20 [22.7%]) and type II (n = 6 [6.8%]). Notably, 42.3% (n = 11) of these fractures had not been detected intraoperatively but during the follow-up visits. The overall Knee Society Score (KSS), Knee Society Score-Function (KSS-F), and Western Ontario and McMaster Universities Arthritis Index (WOMAC) scores were 90.0 ± 10.0, 93.4 ± 10.8, and 93.8 ± 7.1 points, respectively. None of the patients had delayed union or nonunion, and none underwent a reoperation because of bony union problems. The functional scores (KSS, KSS-F, and WOMAC) were not different between patients who had a lateral hinge fracture and those who did not (P > .05). The routine use of a structural allograft was associated with satisfactory outcomes after MOWHTO, regardless of whether there was a lateral hinge fracture.

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3

Heterozygous variants of MATN3 is one of the common causes of multiple epiphyseal dysplasia (MED). Here we report three individuals from two unrelated families who harbor compound heterozygous variants in MATN3 (p.Arg121Trp and p.Val220Ala). Contrary to the MED phenotype, these individuals exhibit spondyloepimetaphyseal dysplasia (SEMD) resembling the phenotypes caused by homozygous MATN3 variants. Clinical manifestations included short stature, aggravating genu varum, joint laxity, and spinal abnormalities. Radiographic findings were distinct from typical MED. These compound heterozygous variants in the von Willebrand factor A domain of MATN3 expand the phenotypic spectrum associated with MATN3, and suggest that extreme MATN3 dysfunction resulting from dual variants can lead to a specific pattern of SEMD.

A Novel Minimally Invasive Surgical Technique for Eight-Plate Hemiepiphysiodesis: Description and Evaluation.

Background: Temporary hemiepiphysiodesis with tension band plates or eight-plates is a common surgical procedure to treat malalignment of the lower limb axis in skeletally immature patients. The objective of this study was to compare a new minimally invasive surgical procedure with the conventional procedure and evaluate its safety and effectiveness in order to reduce the risk of hypertrophic scarring, which may cause functional impairment as well as cosmetic issues. Methods: Sixty-five growth plates of either the femur or the tibia were evaluated in 33 patients treated for genu valgum or varum between 2010 and 2017. Each growth plate was considered an individual case. The modified procedure was used in 17 cases and the conventional procedure in 48 cases. The modified surgical procedure is characterized by an 8 mm incision and preparation of the epi-periosteal layer, in which the eight-plate is positioned via a guide-wire. Positioning and implantation are controlled via fluoroscopy. Skin incision length, duration of surgery, revision rate, achievement of a defined correction goal, and correction rate were analyzed. Results: Using the minimally invasive procedure, the mean skin incision length (23.94 ± 10.18 mm vs. 8.75 ± 2.14 mm, p < 0.001) could be significantly reduced. No significant difference was found in regard to the duration of surgery, revision rate, achievement of the correction goal or correction rate. Conclusions: The minimally invasive procedure results in a reduction in incision length without significant impact on the duration of surgery, revision rate, achievement of correction goal or correction rate. Consequently, the modified procedure can be regarded as equally as effective and safe as the conventional procedure.

Transphyseal Hemiepiphysiodesis: Is it Truly Reversible?

Although numerous studies reported the efficacy of percutaneous epiphysiodesis using transphyseal screws (PETS) in correcting angular knee deformities, many surgeons refrained from using it in younger children because of a lack of objective evidence of reversibility. Our hypothesis is that PETS is both truly reversible and effective. Twenty-one patients aged 8 to 13 years (36 lower limbs LL) with coronal plane knee deformity were enrolled into this prospective case series from January 2021 to September 2023. Besides the routine monitoring of PETS efficacy, low dose CT knee of 32 treated physes was done 6 months after screw removal. In addition, lower limb length, mechanical lateral distal femur angle (mLDFA), and medial proximal tibial angle (MPTA) were recorded preoperatively and 6 to 17 months after screw removal for 24 LL to investigate physis behavior, technique reversibility, and resumption of bone growth after screw removal. The mean mechanical axis deviation (MAD) correction rate was 3.46mm/mo and 1.78mm/mo for genu valgum and genu varum patients, respectively. No physeal bony bars could be detected 6 months after screw removal for all patients. Out of 24 physis that underwent computerized radiography (CR) of the whole lower limb, 12 LL resumed their growth, 4 were stationary, while 8 were excluded due to inadequate calibration. A single physis showed rebound deformity, and another showed overcorrection in the genu valgum group. In addition to being a highly effective method of hemiepiphysiodesis, PETS was found to be reproducible, safe, and reversible when used in the juvenile and early adolescent pediatric population. IV-Prospective case series.

Medial Closing Wedge High Tibial Osteotomy Accurately Corrects Genu Valgum without Iatrogenic Deformity or Complications: A Consecutive Series of Thirty-one Procedures.

Angular deformities of the tibia and femur lead to mechanical axis deviation (MAD) of the lower limb and malorientation of the joints adjacent to the deformity. The current study analyses the outcomes of using a medial closing wedge high tibial osteotomy (MCWHTO) for the management of genu valgum with high medial proximal tibial angle (MPTA), and combined MCWHTO with lateral opening-wedge distal femoral osteotomy (LOWDFO) in the setting of concomitant genu varum with low lateral distal femoral angle (LDFA). There were 18 high tibial osteotomy (HTO)-only and 13 combined HTO + distal femoral osteotomy (DFO) procedures performed. The primary radiographic outcome variables included postoperative MPTA and MAD (in mm). The accuracy of MAD correction was expressed as a percentage. The postoperative posterior proximal tibial angle (PPTA) and limb length discrepancy (LLD) were also measured as secondary radiographic outcome variables. The clinical outcome variables included intraoperative surgical complications (e.g., hinge fracture), all-causes for revision, union rate, time to union, and postoperative knee range of motion. Functional outcomes used included the LDSRS, PROMIS, and EuroQOL scores. The mean preoperative MPTA was 92.9° (SD = 1.81, range: 88-96). After surgical correction, the mean MPTA was 86.0° (SD = 1.80, range: 83-90) (p < 0.0001). The mean preoperative MAD was 32.5 mm (SD = 20.16, range: 10-77) lateral to the centre of the knee joint. The mean postoperative MAD was 2.44 mm medial to the centre of the joint (SD = 7.13, range: 13 medial - 15 lateral) (p < 0.0001). The mean change in MAD achieved through surgical correction was 38.16 mm (SD = 17.94, range: 13-77). The accuracy of MAD correction was 96.1% (SD = 0.06%, range: 81.25-100%). The time to unassisted WB was a mean of 75 days (SD = 44.5, range: 44-242).There was a single stable hinge fracture and one case of chronic regional pain syndrome diagnosed. There were no cases of non-union and no indications for revision surgery in any case. Medial closing wedge high tibial osteotomy is an effective surgical procedure for the management of genu valgum deformity. The MPTA, LDFA, and MAD can be accurately corrected without significantly altering PPTA or limb length. It may be combined with open lateral distal femoral osteotomy for cases with femoral and tibial contributions to deformity without significantly impacting clinical outcomes. Functional outcomes, specifically relating to self-image are significantly improved after the MCWHTO has been performed. Sheridan GA, Page BJ, Greenstein MD, et al. Medial Closing Wedge High Tibial Osteotomy Accurately Corrects Genu Valgum without Iatrogenic Deformity or Complications: A Consecutive Series of Thirty-one Procedures. Strategies Trauma Limb Reconstr 2024;19(2):82-86.

Equal rates of bone healing and reduced surgical time with iliac crest allograft compared to autograft in medial opening wedge high tibial osteotomy: a randomized controlled clinical trial.

Iliac crest autograft is frequently used to fill in bone defects after osteotomies. Nonetheless, surgery for bone autograft procurement is associated with morbidity and pain at the donor site. Alternatives to it have been explored, but there is no consensus to guide their application as a routine practice in several orthopedic procedures. Thus, this study was designed to compare the efficacy and safety between iliac crest autograft and allograft in medial opening wedge high tibial osteotomy. Forty-seven patients with a symptomatic unilateral genu varum and an indication for high tibial osteotomy were randomly assigned to receive either autograft or allograft to fill the osteotomy site. Operative time, bone healing, and complication rates (delayed union, nonunion, superficial and deep infection, loss of correction, and hardware failure) were recorded after a one-year follow-up. Data were expressed as Mean ± Standard Deviation and considered statistically significant when p < 0.05. The time to radiologic union was similar between both groups (Allograft: 2.38 ± 0.97 months vs. Autograft: 2.45 ± 0.91 months; p = 0.79). Complication rates were also similar in both groups, with one infection in the allograft group and two in the autograft group, two delayed unions in the allograft group, and three in the autograft group. The operative time differed by 11min between the groups, being lower in the allograft group (Allograft: 65.4 ± 15.1min vs. Autograft: 76.3 ± 15.2min; p = 0.02). Iliac crest allografts can be safely and effectively used in medial opening wedge high tibial osteotomy as it promotes the same rates of bone union as those achieved by autologous grafts, with the benefits of a shorter operative time. U1111-1280-0637 1 December 2022, retrospectively registered.

Prevalence of Fluorosis in Endemic Area of Sonebhadra, Uttar Pradesh: A Pilot Epidemiological Survey

Abstract Background: A long-term excess of fluoride ingestion from drinking water, food substances, and industrial pollution may result in fluorosis, a public health hazard. This survey aims to investigate the prevalence of dental and skeletal fluorosis, as well as the role of dietary variables. Materials and Methods: A cross-sectional survey was conducted in Sonebhadra district. The Dean’s Fluorosis Index and physical exercises demonstrated by the United Nations International Children’s Emergency Fund for diagnosing dental and skeletal fluorosis, respectively. The dietary habits of the participants were ascertained using a prevalidated questionnaire. Results: The participants’ socioeconomic status varied widely with heterogeneity. The frequent abnormalities found were genu varum (21.5%), genu valgum (6.8%), dental fluorosis (52.3%), and skeletal fluorosis (25.8%). Consequently, eight cases reported of multiple deformities. Conclusion: The findings showed the increased prevalence of moderate-to-severe fluorosis in fluoride endemic areas of Sonebhadra district. Dental fluorosis was more common in those aged 18–64 years, particularly in males, but skeletal fluorosis increased with age.

Functional outcomes after re-insertion of posterior root tear of medial meniscus using a simple economic technique

Background Root avulsions of the meniscus cause loss of hoop stresses and therefore loss of the meniscal function. This in return is associated with increased peak contact stresses and risk of osteoarthritis. Root repair is therefore crucial to preserve normal biomechanics and kinematics. Many techniques have been used and expensive fancy equipment made the procedure easier, however, cost is of great importance. Aim To demonstrate the results and functional outcomes after root re-insertion using simple economic tools. Patients and methods Between March 2022 and May 2023, 25 patients with root tears were operated upon and followed-up for a mean of 12 months. Patients with acute traumatic tears, degenerative tears with grade 1–2 osteoarthritis, associated genu varum less than 5º and a BMI less than or equal to 35 were included in the study. All patients underwent diagnostic arthroscopy as part of the procedure. Pie-crusting of the medial ligament was performed routinely to facilitate visualization and instrumentation in the medial compartment. Bed preparation was performed using a motorized shaver. This was followed by passing polydioxanone suture (PDS) shuttling sutures through a grey cannula and into the posterior root meniscal tissue, this was then used to shuttle heavy poly-braided nonabsorbable suture material. A tunnel was created through the anterior tibial cortex using the anterior cruciate ligament (ACL) guide. The sutures are then tied over a post (4.5 mm screw). Lysholm, International Knee Documentation Committee (IKDC), and Tegner activity scores were used to evaluate the patients at 6 and 12 months. Results The mean Lysholm score improved from 50.16 ± 12.51 preoperative to 82.08 ± 12.90 postoperative. The mean IKDC score improved from 51.24 ± 11.06 to 84.36 ± 10.18. The mean Tegner activity score improved from 3 ± 1.32 ranging from 1 to 5 to 5.20 ± 1.53. Traumatic tears showed greater improvement as compared with degenerative tears. Conclusion Simple outside techniques can be used to perform adequate reliable root repair. This yields comparable results to other techniques described in the literature.

Osteotomies for genu varum: Should we always correct at the tibia? A multicenter analysis of practices in France

IntroductionTibial correction is often performed during a valgus-producing osteotomy for genu varum. However, overcorrection and the creation of a joint line obliquity (JLO) have been associated with unfavorable functional outcomes after high tibial osteotomy (HTO). The aims of this study were to analyze: 1) the corrections obtained after HTO; 2) the rationale behind the indication per the European Society for Sports Traumatology Surgery and Arthroscopy (ESSKA) recommendations; and 3) the correlation between the postoperative corrections obtained and functional outcomes. HypothesisA significant number of patients who underwent an isolated HTO did not present an “ideal” theoretical indication based on the preoperative angles and correction targets to be performed. Materials and methodsThis multicenter study included 289 isolated HTOs. Demographic and morphometric data were anonymized and compiled in a database. Preoperative radiographic parameters were compared with the ESSKA consensus recommendations on osteotomies for genu varum. The consensus defined the “ideal” indication for performing an HTO as medial tibiofemoral compartment pain with significant tibial varus deformity (medial proximal tibial angle [MPTA]<85°), no significant femoral varus deformity (lateral distal femoral angle [LDFA]<90°), an expected postoperative obliquity of less than 5°, and a correction resulting in moderate tibial valgus (postoperative MPTA<94°). The incidence of patients with an “ideal” theoretical indication for isolated HTO and those with a theoretical indication not perfectly justified by the radiographic data and preoperative planning were recorded. ResultsUnder the ESSKA consensus criteria, 25.3% (n=73) of isolated HTOs, 15.6% (n=45) of isolated femoral osteotomies, 9.3% (n=27) of double-level osteotomies, and 49.9% (n=144) of cases where no osteotomy was performed due to the lack of significant extra-articular tibial and/or femoral deformity were deemed justified. The presence of a preoperative femoral deformity and the absence of an “ideal” indication for HTO did not affect the postoperative Tegner Activity Scale or the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) scores (p>0.05). A high preoperative hip-knee-ankle (HKA) angle and MPTA, which indicated less varus, were associated with a greater risk of there being no “ideal” theoretical indication for an HTO (coefficient of determination [R2]=0.19 and R2=1, respectively; p<0.001). ConclusionThis study showed that isolated HTOs in current practice were not justified in a significant number of patients, even though they could lead to tibial overcorrection and excessive JLO. This did not impact the functional results of this series, but it might complicate the performance of a secondary knee arthroplasty. Nevertheless, some young patients in this series underwent a salvage osteotomy outside the “ideal” indications of the European recommendations. Level of evidenceIV; case series.

Brace based Mechanical axis deviation (MAD) of lower limb correction in a Pediatric patient with severe femoral and tibial bowing - A case based description

Genu varum is a Latin term used to describe bow legs. It is a common finding in the pediatric population with a large differential spectrum which includes but not limited to Blount’s disease, rickets, Post infective &amp; post traumatic physeal injuries and physiologic bowing of the legs. The femoral intercondylar distance between the two knees is increased in this condition and it can have a unilateral or bilateral involvement. In the case of genu varum, the mechanical axis falls more inside beyondthe middle ofthe knee joint and the joint undergoes an increased non-physiological stress which can affect both the articular cartilage of the knee and its ligaments. Here we present a case of a 3 year old girl with severe varus deformity of both lower legs which was successfully managed with Brace based correction technique in the lower limbs.

Melatonin ameliorates Slc26a2-associated chondrodysplasias by attenuating endoplasmic reticulum stress and apoptosis of chondrocytes

Although the pathogenesis and mechanism of congenital skeletal dysplasia are better understood, progress in drug development and intervention research remains limited. Here we report that melatonin treatment elicits a mitigating effect on skeletal abnormalities caused by SLC26A2 deficiency. In addition to our previous finding of endoplasmic reticulum stress upon SLC26A2 deficiency, we found calcium (Ca2+) overload jointly contributed to SLC26A2-associated chondrodysplasias. Continuous endoplasmic reticulum stress and cytosolic Ca2+ overload in turn triggered apoptosis of growth plate chondrocytes. Melatonin, known for its anti-oxidant and anti-inflammatory properties, emerged as a promising therapeutic approach in our study, which enhanced survival, proliferation, and maturation of chondrocytes by attenuating endoplasmic reticulum stress and Ca2+ overload. Our findings not only demonstrated the efficacy of melatonin in ameliorating abnormal function and cell fate of SLC26A2-deficient chondrocytes in vitro but also underscored its role in partially alleviating the skeletal dysplasia seen in Col2a1-CreERT2; Slc26a2fl/fl mice. As revealed by histology and micro-CT analyses, melatonin significantly improved retarded cartilage growth, defective trabecular bone formation, and tibial genu varum in vivo. Collectively, these data shed translational insights for drug development and support melatonin as a potential treatment for SLC26A2-related chondrodysplasias.

#2245 ECYSCO, a European cystinosis cohort

Abstract Background and Aims Cystinosis is a rare multisystem lysosomal storage disease due to variants in the CTNS gene, coding for the carrier protein cystinosin, a lysosome membrane transporter, causing cystine accumulation. Specific treatment by cysteamine decreases renal and extrarenal complications frequency in cystinosis patients but data on long-term manifestations of the disease are lacking. The aim of the ECYSCO cohort is to describe the natural history of the disease and the effect of treatments. Methods We set up a European, multi-centre, longitudinal, non-interventional cohort, ECYSCO, that uses observational study methods to collect uniform data. 243 patients with a confirmed diagnosis of cystinosis and followed in 25 French and 5 European centers (Belgium, Italy, Spain and Germany) were included. Data are collected on the secure RaDiCo platform, via an e-CRF (REDCap). Results Data from 177 patients (50.8% male) were analyzed. Median age at diagnosis was 1.3 years [IQ 0.9; 1.8], with earlier diagnosis since the 1980s, but no further improvement in the 2000s. Genetic analysis was available for 158 patients: 46 (31.9%) presented with homozygous 57kb deletion in the CTNS gene, 57 (39.6%) with heterozygous 57kb deletion associated with another variant and 46 (26.4%) with other variants. The type of variant had no impact on the age at diagnosis. Median age at cysteamine start was 1.6 years (IQ 1.0-3.0). An improvement on age at treatment start was observed after the 1990s. All but 7 patients were treated with cysteamine. Sixty-seven patients received immediate release formulation (Cystagon®) and 103 received extended release formulation (Procysbi®). Median white blood cell cystine level was 1.2 nmol ½ cystine/mg protein (IQ 0.6; 2.2). The median duration of treatment was 21.5 years [IQ 11.7; 31.1]. 165 (93,2%) patients also received cysteamine ocular gel, Cystadrops®. Median age at inclusion was 18.4 years (IQ 10.4; 30.6). At that time, 104 patients (57.8%) had reached kidney failure (KF). There was no impact of genotype on age at KF. Median age at KF was 12.9 years [IQ 9.9; 18.0]. A 5-year gain in renal survival was observed after the 1990s. 102 patients (56.7%) received a kidney transplant. Among these transplanted patients: 76 (74.5%) received 1 transplant, 23 (22.5%) received 2 consecutive transplants, and 3 (2.9%) received 3. Median eGFR in the remaining patients was 58.9 ml/min [IQ 40.4; 82.2]. Extrarenal manifestations included hypothyroidism in 29 (16.4%) patients, diabetes mellitus in 15 (8.4%), skeletal manifestations in 89 (53.6%), myopathy in 28 (17.9%), and neurological disorders in 21 (13.5%). Skeletal manifestations involved patients before dialysis/transplantation in 46% of cases. The main complications in these patients were genu valgum (62.9%), genu varum (11.1%), kyphosis (21.2%), fractures (20.4%), and 12.6% required surgery. Patients with myopathy were dialysed or transplanted in 58.8% of cases. Conclusion Cystinosis is a good example of a pediatric disease with multiorgan involvement extending into adult care. More than half of patients are adults and have reached kidney failure even if age at renal replacement therapy start has increased. The high frequency of extra-renal manifestations demonstrates the importance of a multidisciplinary follow up of these patients.

In-silico study of the biomechanical effects of proximal-fibular osteotomy on knee joint contact pressure in varus-valgus misalignment

The aim of this work is to investigate in-silico the biomechanical effects of a proximal fibular osteotomy (PFO) on a knee joint with different varus/valgus deformities on the progression of knee osteoarthritis (KOA). A finite element analysis (FEA) of a human lower extremity consisting of the femoral, tibial and fibular bones and the cartilage connecting them was designed. The FEA was performed in a static standing primitive position to determine the contact pressure (CP) distribution and the location of the center of pressure (CoP). The analysis examined the relationship between these factors and the degree of deformation of the hip-knee angle in the baseline condition. The results suggested that PFO could be a simple and effective surgical treatment for patients with associated genu varum. This work also reported that a possible CP homogenization and a CoP correction can be achieved for medial varus deformities after PFO. However, it reduced its effectiveness for tibial origin valgus misalignment and worsened in cases of femoral valgus misalignment.

A Case Report on the Management of Asthikshaya (Nutritional Rickets) by Ayurveda and Yoga

Rickets is a disorder of growing bone due to abnormal mineralisation of bone. It affects longer bones, leading to poor bone growth and bony deformities such as bow legs and knock-knees in children. No direct description of such disease has been found in Ayurveda; the clinical manifestations due to Asthikshaya (deficient bony tissue) can be considered as rickets. Despite conventional treatment of supplementation of deficient nutrients, many children do not show satisfactory response to the treatment. This is a case report of nutritional rickets in a 3.5-year-old boy who presented with leg pain, cramps and frequent falls due to knocking of knees for the last four months. He was treated with the combined principles of Ayurveda and Yoga. The patient was treated with oral drugs like Ashwagandhadi Churna, Kukkutandatwaka Bhasma, Godanti Bhasma, Muktashukti Bhasma, Lakshadi guggulu, Gandha Tail, Tiktaksheer Basti (medicated enema), Sthanika Snehan-Swedana (local oleation and sudation), Gatravestana (bandaging), knee braces, and practice of Yogasana like Tadasana (standing pose), Vrikshasana (tree pose), Utkatasana (chair pose), and Bhadrasana (butterfly pose). The symptoms were relieved, the biochemical parameters were improved and no further bending of lower limbs was observed. Thus, the patient of nutritional rickets was treated with Ayurveda and Yoga.

The Assessment of Bone Metabolısm Parameters in Paedıatrıc patıents wıth Genu varum and Genu valgus deformıtıes

Aim: There are a limited number of studies in the literature explaining the relationship between bone metabolism parameters such as vitamin D, calcium (Ca), parathormone (PTH), magnesium (Mg), and alkaline phosphatase (ALP) and pediatric lower extremity coronal plane deformities.This study aimed to examine the impact of bone metabolism parameters on the development of genu varum or genu valgus deformities. Methods: 45 patients with genu varum and genu valgus whose vitamin D, Ca, PTH, Mg and ALP parameters were evaluated in our polyclinic were included in the study. Results: 44 (97.8%) of the patients were bilateral and one (2.2%) was unilateral. The mean age of patients with genu varum (4.3±4.8) was significantly lower than that of patients with genu valgus (11.9±4.1) (p&amp;lt;0.001). Ca values were normal in 44 (97.8%), vitamin D in 23 (51.1%), PTH in 33 (73.3%), ALP in 2 (4.4%) and Mg in 43 (95.6%) patients. 3% (6.7) of the patients had comorbidities. 2 of these (66.7%) were rickets. Conclusion: The study shows that ALP can be used as a screening test especially in the coming years. In addition, although there are no sufficient incidence and prevalence studies in the literature, we can say that genu varum is seen more frequently and mostly bilaterally than genu valgus.It is not uncommon for rickets to accompany lower extremity coronal deformities in children. In addition, McCune-Albright Syndrome (MAS) may be accompanied not only by fibrous dysplasia (FD) but also by bilateral genu valgum deformity.

Clinical-radiological results of the tibial osteotomy of valgization by internal addition in Gonarthrosis.

In knee osteoarthritis, medial-opening tibial osteotomy remains a good surgical technique, and have been effective in stabilizing and even improving osteoarthritis, Our study is about 20 cases of gonarthrosis on genu varum, treated by opening wedge valgus high tibial osteotomyconducted within the orthopedic trauma department '' B'' of the University Hospital Mohamed VI of Marrakech, over a period of 4 years. The mean age of our patients was 49 years (39-60), with a sex ratio of 1M/4F. In 55% of cases (11 cases) thegonarthrosis was related to primitive genu varum, while 45% cases (9 cases) was secondary to trauma ormeniscectomy. Clinically the knee pain was the main symptom in all cases, with an intensity level 3 on the simple verbal scale. The imagery was designed to measure angular deviations and surgical correction and monitoring the evolution. Angular deviation adjusted mean was 10.3 ° (6 ° -16 °), stages II and III of Ahlback classification, represent the mostcases of tibiofemoral osteoarthritis (90%).The filling was done by autologous bone graft, and the average degree of varus correction was 9.6 °.The results evaluated by the IKS score were excellent or good in 60% of cases for the knee score and 73% for the function score.

Outcome of Percutaneous Tibial Osteotomy in Children with Genu Varum Deformity

Outcome of Percutaneous Tibial Osteotomy in Children with Genu Varum Deformity