Limb Deformities Research Articles

A clinical comparison of a digital versus conventional design methodology for transtibial prosthetic interfaces

A transtibial prosthetic interface typically comprises a compliant liner and an outer rigid socket. The preponderance of today’s conventional liners are mass produced in standard sizes, and conventional socket design is labor-intensive and artisanal, lacking clear scientific rationale. This work tests the clinical efficacy of a novel, physics-based digital design framework to create custom prosthetic liner-socket interfaces. In this investigation, we hypothesize that the novel digital approach will improve comfort outcomes compared to a conventional method of liner-socket design. The digital design framework generates custom transtibial prosthetic interfaces starting from MRI or CT image scans of the residual limb. The interface design employs FEA to simulate limb deformation under load. Interfaces are fabricated for 9 limbs from 8 amputees (1 bilateral). Testing compares novel and conventional interfaces across four assessments: 5-min walking trial, thermal imaging, 90-s standing pressure trial, and an evaluation questionnaire. Outcome measures include antalgic gait criterion, skin surface pressures, skin temperature changes, and direct questionnaire feedback. Antalgic gait is compared via a repeated measures linear mixed model while the other assessments are compared via a non-parametric Wilcoxon sign-rank test. A statistically significant (\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$P=0.032$$\\end{document}) decrease in pain is demonstrated when walking on the novel interfaces compared to the conventional. Standing pressure data show a significant decrease in pressure on novel interfaces at the anterior distal tibia (\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$P = 0.012$$\\end{document}), with no significant difference at other measured locations. Thermal results show no statistically significant difference related to skin temperature. Questionnaire feedback shows improved comfort on novel interfaces on posterior and medial sides while standing and the medial side while walking. Study results support the hypothesis that the novel digital approach improves comfort outcomes compared to the evaluated conventional method. The digital interface design methodology also has the potential to provide benefits in design time, repeatability, and cost.

Lower extremity osteotomies for limb preservation: Indications, outcomes, and risk factors

ObjectivesTo delineate the key factors associated with treatment success or failure for patients undergoing lower extremity osteotomies to address a spectrum of lower extremity joint and limb deformities at an Integrated Limb Preservation Center (ILPC). MethodsDesign: Retrospective cohort study.Setting: Level I Academic Trauma Center.Patient selection criteria: Patients of the ILPC with at least 1-year of follow-up data regarding previous surgery to correct trauma-or developmental-related deformities between January 1, 2005, and October 1, 2022.Outcome measures and comparisons: Patients were categorized first based on etiology (developmental vs. traumatic) and then based on the nature of deformity (joint, limb, nonunion). Treatment data, demographics including age, sex, body mass index (BMI), tobacco use history, insurance status, marital status, mental health history, and history of comorbidities, concurrent procedures, and post-operative infection, revision, reoperation, and bone healing status were extracted from the medical record and compared. Treatment failure was defined as conversion of the limb preservation surgery (ies) to amputation of any type. Results139 patients were included for analysis; 47 patients in the developmental-related cohort, and 92 patients in the trauma-related cohort. The treatment success rate in terms of preserving the affected limb for patients undergoing lower extremity osteotomies was 94.7 % for the developmental-related cohort and 92.4 % for the traumatic-related cohort. 57.4 % of patients in the developmental-related cohort and 59.8 % of patients in the trauma-related underwent unplanned secondary procedures Concurrent osteomyelitis debridement (p = 0.01) and postoperative infection (p = 0.049) were the only factors measured significantly associated with conversion to amputation. ConclusionsPatients undergoing osteotomies at an ILPC to address developmental-related or trauma-related joint and/or limb deformities experienced high short-term success (>90 %) with respect to preserving the affected limb. However, 56 % of patients required subsequent unplanned surgeries and improvements in PROMs were only statistically significant in patients with trauma-related deformities. Level of evidenceIII.

12324 Clinical Features And PHEX Variants Of Adults With X-Linked Hypophosphatemia

Abstract Disclosure: L.P. Valadares: None. D.R. Carvalho: None. F.S. Lopes: None. R.S. Oliveira: None. L.G. Castro: None. X-linked hypophosphatemia (XLH), caused by loss-of-function PHEX mutations, is a lifelong renal phosphate-wasting disorder and the main cause of inherited hypophosphatemia. In adults, chronic hypophosphatemia leads to impaired bone mineralization and persistent osteomalacia. Short stature, lower limb deformities and musculoskeletal chronic pain can significantly impact the daily lives of affected individuals. This study aimed to describe the clinical and molecular profiles of 23 adults with genetically proven XLH who are being followed at a tertiary medical center in Brazil. We conducted a retrospective analysis of their medical records. The median age at diagnosis was 3.0 years (IQR 2.0-8.0) and the mean age at first visit at the adult care unit was 30.5 years (±12.7). Their mean final height was 144.2 cm (±10.5), with a mean body mass index (BMI) of 28.1 kg/m2 (±4.9). Nine patients were overweight, and seven were obese. Sixteen patients had a positive family history of rickets, and nine had offspring with XLH. Among the 14 different PHEX mutations that were identified, six had not been previously reported. Hypophosphatemia was observed in 21 patients at presentation at the adult care unit, increased serum alkaline phosphatase levels in 19, and 12 showed increased PTH levels. Chronic bone and muscular pain were reported by sixteen patients, eighteen had lower limb deformities, and six had a history of fractures and/or pseudofractures. Seventeen patients underwent orthopedic surgeries, with an average of 3.8 surgical interventions per patient. Nephrolithiasis and/or nephrocalcinosis were observed in nine patients, but none had glomerular filtration rate below 60 mL/min adjusted to 1.73 m2 of body surface. Three patients were on conventional treatment (phosphate and calcitriol) upon presentation at the adult care unit, five patients had never received XLH-specific treatment, and fifteen discontinued conventional therapy after completing skeletal growth, with a mean therapy duration of 12.1 years (±3.5). Out of the 20 patients without treatment, 16 were initiated on pharmacological therapy based on symptoms and signs of persistent osteomalacia. Eleven started combined phosphate and calcitriol supplementation, while five received calcitriol monotherapy. This cohort underscores that adults with XLH experience significant musculoskeletal morbidity throughout their lives, and require long-term follow-up, including assessment of energy metabolism. Importantly, most of them benefits from maintaining pharmacological treatment in adulthood. Presentation: 6/2/2024

7055 Metabolic Disorders In Thalidomide Embryopathy

Abstract Disclosure: A. Tanabe: None. Thalidomide embryopathy (TE) is a congenital limb defect that occurs in neonates born to pregnant women who have taken thalidomide. Typical abnormalities of the TE are upper limb hypoplasia and and/or auditory dysfunction. In Japan, thalidomide was marketed as an agent for sleep-induce and digestive ulcers from 1958 to 1962. Up to now, approximately 290 cases have been certified and are supported by the government as drug-induced disease. Currently, many of the victims are in their late 50s, and in addition to congenital disabilities, various health issues such as lifestyle-related diseases can be developed. We investigated their metabolic condition using data of medical health checkup between 2017 and 2018. Fifty-one Japanese cases of TE (28 men and 23 women) were included in this study. The mean age was 56.4±1.6 years in men and 55.9±1.2 years in women. The prevalence of upper limb deformities was 64% in men and 74% in women; the remaining patients had only hearing impairment. The mean body mass index (BMI) was 22.7±2.1 in men and 22.5±4.0 in women. Eleven percent of men and 17% of women had a BMI between 25-30, while 9% of women and no men had a BMI of 30 or greater. Liver dysfunction was seen in 32% of men and 9% of women. The mean high-density lipoprotein cholesterol level was 60±17 mg/dL in men and 68±18 mg/dL in women. The mean low-density lipoprotein (LDL) cholesterol level was 120±28 mg/dL in men and 136±35 mg/dL in women, with 25% of men and 48% of women had LDL level of 140 mg/dL or greater. The mean triglyceride (TG) level was 144±85 mg/dL in men and 116±61 mg/dL in women, with 43% of men and 17% of women had a level of 150 mg/dL or greater. The mean HbA1c level was 6.0±1.0% in men and 5.9±0.4% in women. The prevalence of impaired glucose tolerance was 25% in men and 13% in women. Fatty liver (FL) evaluated by ultrasonography or CT scan was 61% in men and 39% in women. The patients with FL showed significantly high body fat percentage and TG level in men, high alanine aminotransferase, γ-glutamyl transpeptidase and TG levels in women, respectively, compared to the patients without FL. The prevalence of hypertriglyceridemia was significantly higher in men with FL compared with men without FL. There was no significant difference in with or without the upper limb abnormalities in both groups. Although without obvious overweight, more than 40 % of the patients had dyslipidemia and 50% of the patients had FL. The limb abnormalities can result in movement limitations however other factors may be involved in the development of metabolic disorders in TE. The results of this study provide valuable information for future health management in thalidomide embryopathy. (This study was conducted by a research grant from the National Center for Global Health and Medicine, Japan: 21A1015 and a Grant-in-Aid from the Ministry of Health, Labour, and Welfare, Japan: 20KC2005, 23KC2017). Presentation: 6/2/2024

12605 Two Systematic Reviews Of Treatment Efficacy On Patient Important Outcomes In Children X-linked Hypophosphatemia

Abstract Disclosure: D.S. Ali: None. R. Mirza: None. S. Hussein: None. F. Alsarraf: None. R. Alexander: Consulting Fee; Self; Ultragenyx. Grant Recipient; Self; Ardylex Inc.. H. AbuAlrob: None. M. Brandi: Consulting Fee; Self; Aboca, Alexion, Amolyt, Bruno Farmaceutici, Calcilytix, Echolight, Kyowa Kirin, Personal Genomics,. Speaker; Self; Kyowa Kirin, Abiogen, Alexion, Amgen, Amolyt, Amorphical, Bruno Farmaceutici, Eli Lilly & Company. T.O. Carpenter: Advisory Board Member; Self; Kyowa Kirin, Ultragenyx. Consulting Fee; Self; Kyowa Kirin, Ultragenyx. Grant Recipient; Self; Ultragenyx. Other; Self; Assoc. Editor JBMR, President Ped Endo Soc, Author UpToDate (royalties), XLH-Network (Patient Advisory Org). K. Dandurand: Speaker; Self; Amgen Inc, Kyowa Kirin. G. Filler: Consulting Fee; Self; Kyowa Kirin, Ultragenyx, ProKidney. Speaker; Self; Ultragenyx, ProKidney. P.F. Florenzano: ; Institutional Research Grants: Ultragenyx. ; Advisory Boards: Ultragenyx, Kyowa Kirin. S. Fukumoto: Consulting Fee; Self; Kyowa Kirin. C. Grasemann: Speaker; Self; Kyowa Kirin. E.A. Imel: ; Ultragenyx (Research funding and consulting). ; Kyowa Kirin (research funding and consulting). ; Inozyme (consulting). ; Amgen (research funding). S.M. Jan De Beur: Consulting Fee; Self; Ultragenyx, Kyowa Kirin. Research Investigator; Self; Ultragenyx. E. Morgante: None. L.M. Ward: ; clinical trials with Ultragenyx. ; consultancy to Kyowa Kirin and Ultragenyx. ; unrestricted educational grants from Ultragenyx and Kyowa Kirin (with funds to Dr. Ward’s instituition). A.A. Khan: Advisory Board Member; Self; Amgen Inc, Ascendis, Alexion. Grant Recipient; Self; Takeda, Amolyt, Calcilytix. Speaker; Self; Amgen Inc, Ascendis, Alexion. G. Guyatt: None. Objective: We sought to examine the highest certainty evidence on managing X-linked hypophosphatemia (XLH) in children, aiming to inform treatment recommendations of XLH international guidelines. Data Sources: We searched Embase, MEDLINE, Web of Science, and Cochrane Central from inception to March 2023. We also reviewed reference lists of eligible studies and pertinent review articles. Study eligibility criteria: Eligible studies included randomized controlled trials (RCTs) and observational studies enrolling individuals younger than 18 years old with XLH diagnosed on clinical grounds or with a confirmed pathogenic variant in PHEX. Articles were selected according to specific criteria evaluating the effectiveness of burosumab compared to either no treatment or conventional therapy (phosphate salts and active vitamin D) or evaluating conventional therapy compared to no treatment. Methods: Two reviewers independently determined eligibility, conducted data extraction, and assessed the risk of bias (RoB) in eligible articles. We employed the GRADE methodology to evaluate the certainty of the evidence. Results: After removing duplicates from 7,043 citations, we screened 4,114 records and assessed 254 full texts, of which in the systematic review (SR) addressing burosumab one RCT and one post-Hoc study proved eligible. Being open-label design, the RoB was high, with certainty of evidence on individual outcomes ranging from moderate to very low. Burosumab, compared to conventional therapy, probably prevents lower limb deformity, and improves physical health quality of life (QoL) (moderate certainty). It might also increase height and possibly improve the burden of symptoms related to chronic hypophosphatemia (low certainty). Conversely, burosumab probably increases Treatment-Emergent adverse events after the first administration (moderate certainty), and it may increase dental abscesses (low certainty). In the second SR, one observational study assessing conventional therapy versus no treatment was at high RoB providing very low certainty of evidence regarding the impact of conventional therapy compared to no treatment on final height. Conclusion: Our review indicates that burosumab likely offers benefits in preventing lower limb deformity and improving physical health QoL, while potentially increasing height and improving the burden of symptoms related to chronic hypophosphatemia (low certainty). However, it may also increase adverse events, including dental abscesses. Additionally, our review found limited evidence regarding the impact of conventional therapy compared to no treatment on final height in children. These findings highlight the need for further research to better understand the long-term impact of conventional therapy and burosumab in children. Presentation: 6/2/2024

Successful Long-Term Management of NF1 Congenital Tibial Dysplasia with Prophylactic Bypass Graft and Bracing

Case: An 8-year-old girl with NF1 and congenital tibial dysplasia with significant bilateral tibial bowing underwent McFarland procedures. Now age 22 with 14-year follow-up indicating sustained correction and healing of her bilateral limb deformities. Conclusion: This case illustrates the McFarland procedure provided adequate corrective treatment of this deformity and remains a success at long-term follow-up.

Complete Pentalogy Of Cantrell: Case Report And Review Of Literature

Introduction: Pentalogy of Cantrell (POC) is a rare congenital anomaly with two sub-categories: complete or partial. Complete has all five defects (anterior diaphragmatic defect, ventral abdominal wall defect, pericardial defect, intracardiac anomalies, and lower sternal defect). The first documented case was described by Cantrell et al. in 1958. Both sporadic and genetic causes have been proposed for POC, with a reported incidence of 5 - 10 cases per one million live births and various clinical presentations. The prognosis of POC depends on the severity of the defects and the associated cardiac anomalies. This case report seeks to increase awareness of this condition, emphasize the need for appropriate counselling in our environment, and review the literature on previous reported cases’ outcomes. Case Presentation: A 5-hour-old term female neonate was referred to our Children Emergency Center with multiple defects (ectopia cordis, sternal cleft, omphalocele, and limb abnormalities) with dysmorphic facies. A diagnosis of POC was made, and multidisciplinary management was instituted. The eviscerated heart and epigastric omphalocele were dressed and evaluated for palliative surgical care. However, she developed complications with sepsis and electrolyte derangements and died from multi-organ failure before any surgical intervention could be carried out. Conclusion: Though rare, the Pentalogy of Cantrell in its classical form does occur in our environment. The presence of extracardiac and limb deformities worsens the outcome. Based on poor outcomes, there is a need to emphasize appropriate antenatal and postnatal assessments to provide effective counselling on termination, neonatal palliative care, and surgical repairs as appropriate.

Residual Deformity and Outcome in Non-Surgically Treated Tibial Shaft Fractures in Adolescents

Background: The limited potential for correction of malalignments due to the impending physeal closure predisposes adolescents to inadequate alignment of tibial shaft fractures, hence the need for close to anatomic reduction as possible. As such, there is an increasing trend of surgical treatment of tibial shaft fractures, especially in the adolescent population. While properly done casting and immobilization are still carried out in appropriately selected tibial shaft fractures in the pediatric population, local data for radiographic and clinical outcomes of these non-surgically treated are yet to be explored. Objective: The primary objective of this study was to report residual lower limb deformity of tibial shaft fractures treated non-surgically in adolescents nearing skeletal maturity, identify factors or fracture characteristics that may predict these deformities, and report the clinical outcomes using the Lower Extremity Functional Scale. Methodology: A total of 31 adolescents nearing skeletal maturity at the time of injury with acute closed tibial shaft fractures treated non-surgically at the Philippine Orthopedic Center from 2017 to 2020 were included in the study. Radiographic analysis were done to evaluate skeletal maturity and residual sagittal & coronal angulation. Rotational alignment and leg length discrepancies were evaluated clinically. Functional outcome was measured with using the Lower Extremity Functional Scale (LEFS). Result: Coronal plane angulation (r=-0.397; p=0.05) and leg length discrepancy (r=-0.394; p=0.05) were shown to have significant inverse correlation with Lower Extremity Functional Scale (LEFS) scores. While sagittal plane angulation, tibial rotation, and fracture pattern were shown to have non-significant correlation. Significant correlation was also noted between presence of an ipsilateral fibular fracture and coronal plane angulation (p = 0.007). Lower Extremity Functional Scale (LEFS) scores ranged from 75 to 80 with a mean of 79.39. Conclusion: The radiographic and clinical outcomes of children nearing skeletal maturity with isolated acute tibial shaft fractures treated non-surgically showed that the current method of closed reduction and casting followed by close monitoring remains to be useful and effective.

Lower limb maltorsion and acetabular deformity in children and adolescents with X-linked hypophosphatemia.

X-linked hypophosphatemia (XLH) is a rare monogenetic skeletal disorder. Lower limb deformities contribute substantially to impaired gait quality and burden of disease in patients with XLH. Standardized data regarding onset and severity of lower limb maltorsion are unavailable. This study aimed to evaluate lower limb maltorsion using rotational magnetic resonance imaging (MRI) and computed tomography (CT). Rotational MRI and CT of children and adolescents with verified XLH were evaluated retrospectively. Femoral and tibial torsion, acetabular anteversion, and axial acetabular coverage were measured and compared with published age-adapted radiographic, clinical measurements and MRI data, respectively. Fifteen patients (mean age, 10.7 years) were included in the study. Decreased femoral torsion was observed in 47% (14/30 femora) and femoral retrotorsion in 17% (5/30 femora). Ten of 13 hips with coxa vara deformity presented with decreased femoral antetorsion. Reduced external tibial torsion manifested in 64% (18/28 tibiae). Abnormal axial femoral head coverage was present in 67% (20/30 hips), whereas 53% (16/30 hips) showed increased acetabular anteversion. Femoral and tibial torsional pathologies were found in children and adolescents with XLH. The occurrence of severe femoral retrotorsion in a 2-year-old child prior to ambulation raises questions regarding the biomechanical impact of gait on the development of torsional deformities in XLH.

A Single-Center Retrospective Cohort Study of Genotype–Phenotype Correlation of Osteogenesis Imperfecta in UAE

Abstract Background Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by skeletal fragility. Patients with OI suffer recurrent fractures, limb deformities, and kyphoscoliosis. Multiple extraskeletal manifestations might also be present. Autosomal dominant variants in the COL1A1 or COL1A2 genes account for approximately 90% of cases. Objective The aim of the study was to describe the variant spectrum and genotype–phenotype correlations in patients with OI seen in Tawam Hospital in the UAE. Methods The authors conducted a retrospective chart review for all patients with OI assessed by geneticists at Tawam Hospital from January 2010 to December 2021. They retrieved each patient's baseline characteristics, detailed history and physical examination, laboratory, imaging, and genetic results. Results A total of 40 patients with OI were found and included in this study. The majority (80%) were Emirati, and 57.5% were females. Consanguinity was documented in 24.3%. Thirty-seven patients (92.5%) had positive molecular testing; 28 patients (75.7%) had an autosomal dominant inheritance, and 9 patients (24.3%) had an autosomal recessive inheritance. The majority had missense variants. Four variants were novel. A high prevalence of pathogenic variants in the COL1A1 gene (57%) was found. Patients with variants in the LEPRE1 gene had early and severe phenotypes, while patients with variants in the TMEM38B gene had variable presentations. The majority of patients (85%) had skeletal phenotypes: fractures, bone deformity, scoliosis, and osteopenia. Extraskeletal phenotypes included blue sclera, dentinogenesis imperfecta, hearing loss, and dysmorphic features. Conclusion This study reports the genotype–phenotype correlation of OI patients from the UAE. A high prevalence of pathogenic variants in the COL1A1 gene with OI type IV phenotype was found. Further multicenter more extensive studies are recommended.

Boundaries in Kinematic Alignment: Why, When, and How.

The use of alternative alignments in total knee arthroplasty (TKA) has recently been increasing in popularity: many of these alignments have been included in the broad spectrum of "kinematic alignment." This alternative approach was recommended to increase patients' satisfaction since many studies based on patient-reported outcome measures (PROMs) showed that every fifth patient is not satisfied with the surgical outcome. In fact, the original kinematic alignment technique was designed as a "pure resurfacing" technique, maintaining the preoperative axes (flexion-extension and axial rotation) of the knee. In adjunct, many new classifications of the preoperative limb deformity have been proposed to include a large range of knee anatomies, few of them very atypical. Following those classifications, many surgeons aimed for a reproduction of unusual anatomies putting in jeopardy the survivorship of the implant according to the classical "dogma" of a poor knee kinematics and TKA biomechanics if the final hip-knee-ankle (HKA) axis was not kept within 5 degrees from neutral. This article reviews the literature supporting the choice of setting alignment boundaries in TKA when surgeons are interested in reproducing the constitutional knee anatomy of the patient within a safe range.

Complications after cosmetic limb lengthening, a specialized center experience

BackgroundCosmetic limb lengthening has been rapidly growing ever since the advent of the external fixators magnetic lengthening nails. Similar to all surgical procedures, cosmetic limb lengthening is not risk free. This paper presents a series of complications encountered and treated at a specialized limb lengthening and deformity correction center, along with an analysis of potential risk factors. MethodsA series of referred patients for complications after limb lengthening using IM nails were identified. Collected variables included demographics, place of index surgery, complication, and treatment of choice and outcome of treatment. Results22 limb lengthening procedures were identified. Most of these cases were done outside of the U.S. Hardware failure occurred in 23 % of index surgeries, primarily affecting femurs. Mal/nonunion rates were high (45 %), with femurs most affected. Iatrogenic deformities, primarily tibial, and soft tissue complications including contractures and nerve entrapment were observed. Treatment strategies included hardware exchange, bone grafting, and soft tissue release. All patients were successfully treated without any patients suffering from serious long term irreversible outcomes. ConclusionThis study examines the surgical management of complications arising from cosmetic limb lengthening procedures at a single institution. We provide insights into effective treatment strategies and highlight the risks associated with medical tourism for these procedures. Our findings demonstrate a rising incidence of complications linked to international limb lengthening centers.

Embryonic Thyroid Hormone Insufficiency Causes Structural Anomalies in the Embryo of Domestic Chick, Gallus domesticus.

Thyroid hormone (TH) is essential for growth and development, yet its specific role during embryogenesis remains incompletely understood. This study investigates the impact of TH deficiency, induced by thiourea, a known inhibitor of thyroid peroxidase (TPO), on the development of domestic chicks. Thiourea was administered before thyroid gland formation, and its presence in treated embryos was confirmed through liquid chromatography-mass spectrometry. In silico docking revealed a strong interaction between thiourea and the CCP-like domain of TPO, which was corroborated by TPO activity assays showing reduced enzyme function. This reduction in enzyme activity led to lower embryonic TH levels and increased thyroid-stimulating hormone (TSH) secretion. Morphological analysis of newly hatched chicks revealed significant structural anomalies, particularly in lateral plate mesoderm-derived structures, including omphalocele, limb deformities, anophthalmia and craniofacial defects. Alcian blue and Alizarin red staining demonstrated reduced ossification in ribs and forelimbs, while histological analysis showed incomplete abdominal wall closure and abnormal vertebral column development. Haematological profiling of TH-deficient newly hatched chicks revealed significantly lower blood cell counts, highlighting TH's critical role in haematopoiesis. These findings emphasise the multifaceted role of TH in embryonic development, with potential implications for understanding congenital hypothyroidism and its developmental impacts, especially in regions with limited healthcare access.

A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis

Abstract Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones. In many cases it is asymptomatic but can lead to considerable number of complications, like pressure symptoms, limb deformities, and can cause psychosocial problems. Malignant transformation is rarely seen. Surgery is the main modality of treatment.This paper aims to highlight the role of FNAC in diagnosis of HME.

Ilizarov Distraction for Congenital Pseudoarthrosis of the Tibia in Adults.

The clinical evidence on the management for congenital pseudoarthrosis of the tibia (CPT) in adults is limited. The aim of this study is to assess the functional and radiological outcomes of Ilizarov distraction for treating CPT in adults. A retrospective analysis was conducted. Between 2013 and 2022, an Ilizarov distraction technique was performed on 14 adults (14 limbs) with CPT in our limb deformity center. There were seven females and seven males with a mean age of 33.7 (range, 18 ~ 53) years. The diagnosis of NF-1 was confirmed in seven (50.0%) patients. Eight patients had a history of previous surgical failure. The pseudoarthrosis occurred in the middle and lower tibia in all limbs (six left and eight right). The CPT was classified by Crawford classification and Paley classification. The surgical procedures, external fixation time (EFT), and all outcomes and complications were recorded. The Kolmogorov-Smirnov test was performed to test the normality of the data. The American Orthopedic Foot and Ankle Society (AOFAS) ankle-hindfoot score at the preoperative and final follow-up was compared by using the Wilcoxon's signed-rank test. The limb-length discrepancy (LLD) and a self-made exercise capacity score at the preoperative and final follow-up were compared by using the student's t-test. The clinical and radiological outcomes were assessed by the Inan scale. The mean EFT of Ilizarov fixator was 19.5 months (range, 7.3 ~ 39.1). At a median follow-up of 26.8 months (IQR, 20.2 ~ 34.3), bone union of the pseudarthrosis and consolidation of the distraction zone were achieved in all patients. The mean LLD was decreased from 11.3 cm (range, 3.4 ~ 17.3) preoperatively to 1.1 cm (range, 0.3 ~ 3.7) (p < 0.05). The mean or median AOFAS ankle-hindfoot score was improved from 53.5 (IQR, 26.5 ~ 60.5) preoperatively to 63.9 (range, 53 to 73) at final follow-up (p < 0.05). The mean score for exercise capacity were improved from 4.9 (range, 1 to 8) preoperatively to 9.6 (range, 7 ~ 12) at final follow-up (p < 0.05). According to the criteria described by Inan et al., the clinical results were classified as good in 10 and fair in 4, while the radiological results were classified as excellent in three, good in 8, and fair in 2. The success rate was 92.9%, as refracture was defined as treatment failure and occurred in one patient. Ilizarov distraction provided a suitable treatment option for the CPT in adults, as it could achieve a high rate of bone union, a good correction of secondary deformity, a low risk of refracture, and consequently restore a relatively functional limb.

Focal Dome Osteotomy Combined with Ilizarov Technique for Treating Femoral Multiplanar Deformity.

The management of femoral multiplanar deformity remains a great challenge for orthopaedic surgeons. The focal dome osteotomy (FDO) combined with Ilizarov technique is a theoretically ideal method for treating femoral multiplanar deformity, but the clinical evidence is limited. The aim of this study is to assess the clinical and radiological outcomes of this combined strategy for correcting femoral multiplanar deformities. A retrospective analysis was conducted to analyze 20 patients (29 limbs) with femoral multiplanar deformities treated by FDO combined with Ilizarov external fixation in our limb deformity center between 2017 and 2022. Preoperative and postoperative radiographical parameters were measured, including lateral proximal femoral angle (LPFA), mechanical lateral distal femoral angle (mLDFA), middle diaphysis angle (MDA), anatomic posterior distal femoral angle (aPDFA), mechanical axis deviation (MAD), and limb length discrepancy (LLD). Clinical assessments included a self-made questionnaire for exercise capacity score (ECS), visual analog scale (VAS), and the 36-Item Short-Form Health Survey (SF-36) score. There were eight males and 12 females, with a mean age of 32.8 years (14-61 years). All patients completed follow-up with a mean follow-up duration of 41.5 (27-81) months. The mean EFT was 8.9 (1.4-20.2) months. At final follow-up, significantly improvement was noted regarding mean LLD (from 1.8 to 0.4 cm, p < 0.05), MDA (from 31.8° to 10.4°, p < 0.05), aPDFA (from 97.6° to 91.8°, p < 0.05), MAD (from 22.4 to 5.3 mm, p < 0.05), CORA on the true deformity plane (from 32.4° to 6.8°, p < 0.05). The mean VAS was decreased from 4.03 (2.0-6.0) preoperatively to 1.38 (0-3.0) at final follow-up (p < 0.05). The mean score of each item of SF-36 was significantly improved at final follow-up (p < 0.05). The mean ECS was improved from 8.2 (5-12) preoperatively to 11.4 (8-13) at final follow-up (p < 0.05). During the follow-up, one patient underwent pin exchange. One patient underwent internal fixation to replace the Ilizarov fixation 1.4 months after the first surgery. Residual LLD (>0.5 cm) was noted in four patients but without significant symptoms. No serious complications occurred. The strategy of FDO combined with Ilizarov fixation could provide powerful ability and good flexibility for correcting femoral multiplanar deformities without significant complications.

Guided growth surgery for angular deformity of the knee: one centres experience.

Angular deformity in the lower extremity can result in pain, gait disturbance, cosmetic deformity and joint degeneration. Up until the introduction of guided growth, which has since become the widely accepted treatment for frontal plane angular angular deformity around the knee in skeletally immature patients, treatment consisted of staples, corrective osteotomy or an angular epiphysiodesis. Guided growth modulation uses the tension band principle with the goal of treatment being to normalise the lower limb mechanical axis resulting in lower morbidity than previous treatments. In order to assess the success of this procedure we reviewed our results in an attempt to identify patients who may not benefit from this elegant procedure. We performed a retrospective review of prospectively collected surgical records and diagnostic imaging in our paediatric tertiary national referral centre to identify all patients who had guided growth surgery for coronal plane angular deformity of the knee from 2007 to 2023. We noted the patient demographics, diagnosis, peri-operative experience and outcome. All patients were followed until skeletal maturity, until their hardware was removed or at least 2years. Two hundred thirty-six patients were assessed for eligibility. Of the 282 treated knees which met the criteria for final assessment 55 (19.5%) were unsuccessful. Complications were few but included infection and metal-work prominence. Procedures that were less likely to be successfully included growth disturbances following trauma (18.8% failure) or infection (40%), tumour (66.6%), mucopolysaccharidoses type I (15.7%), spondyloepiphyseal dysplasia (25%) or Blount's disease (60%). Idiopathic angular deformity showed an 89.5% success rate with guided growth. In our hands, guided growth had an 80.5% success rate when all diagnoses were considered. We continue to advocate the use of guided growth as a successful treatment option for skeletally immature patients with limb deformity however caution should be employed when considering its use in certain patient groups. Level III, retrospective cohort study.

Effect of elastic intramedullary nailing on lower limb lengthening in acquired shortenings: a prospective study

Introduction Lengthening and correction of limb deformities using Ilizarov external fixation is a frequent standard operation. However, the risk of complications associated with limb lengthening, including superficial or deep infection, contractures, secondary deformity, and fractures after device removal associated with delayed bone consolidation, remains significant.The purpose of the work was to identify the features of bone lengthening with an external fixator in combination with elastic intramedullary nails, titanium or titanium with a composite hydroxyapatite coating, in the conditions of shortening of the lower extremities of acquired etiology.Materials and methods The study included 64 patients, of which 31 patients underwent monofocal lengthening of the femur, 33 patients underwent monofocal lengthening of the tibia.Results The mean external fixation indices (EFIs) of the groups compared for similar lengthening types (femoral or tibial lengthening) did not differ significantly for the types of intramedullary nails implanted. In femoral lengthening, a significant effect on the EFI had the nail type and the ratio of “nail diameter / medullary canal diameter”. The dependence of EFI on the nail type in tibial lengthening was associated with the ratio “nail diameter / internal diameter at the osteotomy site” (p = 0.023). Two-way ANOVA showed that the effect of the nail type on EFI depended on the nail diameter/ internal diameter at osteotomy site ratio in the tibial lengthening group (p = 0.034).Discussion In acquired shortening of the lower extremities, there is no difference in EFI by using titanium elastic nails or intramedullary nails coated with composite hydroxyapatite. The use of a combined technique, in any case, has advantages: it provides good and excellent results without serious complications during lengthening in patients with shortening of acquired etiology. The strong positive correlation between the bone diameter/internal cortical distance ratio at the osteotomy site, coupled with the significant influence of the nail type and nail diameter on EFI, suggests that both factors should be considered together in future studies.Conclusion In shortening of the lower extremities of acquired etiology, the use of a combined bone lengthening technique, comprising an external fixator in combination with elastic intramedullary nailing, provides good and excellent results without serious complications.

Alteration of bone microarchitecture in hereditary distal RTA patients with SLC4A1 gene mutation: assessed by HR-pQCT.

Hereditary distal renal tubular acidosis caused by SLC4A1 gene mutation (SLC4A1-dRTA) is a rare hereditary form of renal tubular acidosis. Rickets or osteomalacia is a common complication of SLC4A1-dRTA, and seriously affects patients' daily life. However, studies on the bone microstructure in SLC4A1-dRTA are limited. This work aimed to evaluate the bone microstructure of SLC4A1-dRTA patients, compared to age- and sex-matched healthy controls and X-linked hypophosphatemic rickets (XLH) patients. This was a retrospective study on eleven SLC4A1-dRTA patients. Clinical manifestations, biochemical and radiographical examinations were characterized. Bone microstructure was examined in seven SLC4A1-dRTA patients, seven healthy controls and twenty-one XLH patients using high-resolution peripheral quantitative computed tomography (HR-pQCT). Skeletal symptoms, including fracture, bone pain, and lower limb deformity, were presented in 72.7% of SLC4A1-dRTA patients. Short stature was presented in 63.6% of the patients. SLC4A1-dRTA patients had significantly lower volumetric BMD in the distal tibia, and more severe deteriorated trabecular bone in the distal radius and tibia than healthy controls. SLC4A1-dRTA patients had significantly more severe deteriorated trabecular bone in the distal radius and distal tibia compared to XLH patients. With long-term alkaline therapy, SLC4A1-dRTA patients had alleviation in bone pain, increase in height. Skeletal lesions were common clinical manifestations in SLC4A1-dRTA patients. Compared with XLH, another common type of rickets, SLC4A1-dRTA patients had more severe trabecular bone microstructure damage, further supporting the necessity of early diagnosis and timely treatment of the disease.

Sustained release of MAPK14-targeting siRNA from polyelectrolyte complex hydrogels mitigates MSC osteogenesis in vitro with potential application in growth plate injury.

The growth plate is a cartilage structure at the end of long bones which mediates growth in children. When fractured, the formation of bony repair tissue known as a "bony bar" can occur and cause limb deformities. There are currently no effective clinical solutions for the prevention of the bony bar formation or regeneration of healthy growth plate cartilage after a fracture. This study employs previously developed alginate/chitosan polyelectrolyte complex (PEC) hydrogels as a sustained release vehicle for the delivery of short-interfering RNA (siRNA). Specifically, the siRNA targets the p38-MAPK pathway in mesenchymal stem cells (MSCs) to prevent their osteogenic differentiation. In vitro experimental findings show sustained release of siRNA from the hydrogels for 6 months. Flow cytometry and confocal imaging indicate that the hydrogels release siRNA to effectively knockdown GFP expression over a sustained period. MAPK-14 targeting siRNA was used to knockdown the expression of MAPK-14 and correspondingly decrease the expression of other osteogenic genes in MSCs in vitro over the span of 21 days. These hydrogels were used in a rat model of growth plate injury to determine whether siMAPK-14 released from the gels could inhibit bony bar formation. No significant reduction of bony bar formation was seen in vivo at the one concentration of siRNA examined. This PEC hydrogel represents a significant advancement for siRNA sustained delivery, and presents an interesting potential therapeutic delivery system for growth plate injuries and other regenerative medicine applications.