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1.
Indian J Orthop ; 57(11): 1850-1857, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37881273

RESUMEN

Purpose: Late periprosthetic fracture risk with uncemented ABG-II femoral stems at primary total hip arthroplasty (THA) has been reported before, but single-hospital surgeon-stratified reports of this implant have never been published. We asked whether periprosthetic fracture rates of ABG-II femoral stems implanted at a single tertiary hospital depended on patients' age, gender and the operating surgeon. Methods: The study included 1531 consecutive primary ABG-II femoral stems implanted at a single tertiary hospital between January 1, 2012 and December 31, 2018. The Kaplan-Meier and Cox regression analyses were performed after 3.6-10.6 years of follow-up. Results: In the cohort, we recorded 8 intraoperative, 22 early postoperative (within 90 days of implantation) and 26 late periprosthetic fractures (over 90 days postoperatively). The revision rate of ABG-II femoral stems was 5.1/100 component-years for early and 0.3/100 component-years for late periprosthetic fractures. The Kaplan-Meier cumulative probability of periprosthetic fracture was 2.1% at one, 2.3% at 2, 3.2% at 5, and 6.5% at 10 years after the implantation. Higher patient's age at operation was an independent risk factor of subsequent periprosthetic fracture (hazard ratio 1.07, 95% confidence interval 1.03-1.10; p < 0.01), regardless of the operating surgeon. Most of the fractured femora were Dorr type C (stovepipe). Conclusion: The study presents the largest published ABG-II femoral stem cohort from a single hospital so far with 9291 component-years of observation. Periprosthetic fracture risk of ABG-II increased with patients' age, had no variability between different surgeons, and was considerably higher from other uncemented femoral stems used at the same hospital. Level of Evidence: III.

2.
Front Genet ; 14: 1167054, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37533431

RESUMEN

The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by developmental delay, intellectual disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus callosum and/or cerebellum, congenital heart defect and left ventricular non-compaction cardiomyopathy. Few patients have been described in the literature and the phenotype data are limited. We report a 17-year-old boy with dolihocephaly, elongated face, strabismus, speech and motor delay, intellectual disability, congenital heart defect (ASD, VSD and Ebstein's anomaly), left ventricular non-compaction cardiomyopathy, bilateral inguinal hernia and cryptorchidism. Additional features included recurrent fractures due to multiple non-ossifying fibromas, thrombocytopenia, and renal anomalies. Exome sequencing revealed a de novo pathogenic variant (NM_001145408.2: c.348+2_ 348+15del) in intron 5 of the NONO gene. Renal anomalies and thrombocytopenia have been rarely reported in patients with NONO-X-linked intellectual disability syndrome, while recurrent fractures due to multiple non-ossifying fibromas have not previously been associated with this syndrome. The phenotypic spectrum of NONO-X-linked intellectual disability syndrome may be broader than currently known.

3.
Int Orthop ; 47(9): 2173-2179, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37421426

RESUMEN

PURPOSE: To identify clinical and laboratory predictors for low- and high-grade prosthetic joint infection (PJI) within the first postoperative days following primary total hip/knee arthroplasty (THA/TKA). METHODS: Institutional bone and joint infection registry of a single osteoarticular infection referral centre was reviewed to identify all osteoarticular infections treated between 2011 and 2021. Among them were 152 consecutive PJI (63 acute high-grade PJI, 57 chronic high-grade PJI, and 32 low-grade PJI) who also had primary THA/TKA performed at the same institution, which were retrospectively analyzed with multivariate logistic regression and covariables. RESULTS: For each additional day of wound discharge, persistent wound drainage (PWD) predicted PJI in the acute high-grade PJI group with odds ratio (OR) 39.4 (p = 0.000, 95%CI 1.171-1.661), in the low-grade PJI group with OR 26.0 (p = 0.045, 95%CI 1.005-1.579), but not in the chronic high-grade PJI group (OR 16.6, p = 0.142, 95%CI 0.950-1.432). The leukocyte count product of pre-surgery and POD2 >100 predicted PJI in the acute high-grade PJI group (OR 2.1, p = 0.025, 95%CI 1.003-1.039) and in the chronic high-grade PJI group (OR 2.0, p = 0.018, 95%CI 1.003-1.036). Similar trend was also seen in the low-grade PJI group, but was not statistically significant (OR 2.3, p = 0.061, 95%CI 0.999-1.048). CONCLUSIONS: The most optimal threshold value for predicting PJI was observed only in the acute high-grade PJI group, where PWD >three days after index surgery yielded 62.9% sensitivity and 90.6% specificity, whereby the leukocyte count product of pre-surgery and POD2 >100 showed 96.9% specificity. Glucose, erythrocytes, hemoglobin, thrombocytes, and CRP showed no significant value in this regard.


Asunto(s)
Artritis Infecciosa , Artroplastia de Reemplazo de Cadera , Artroplastia de Reemplazo de Rodilla , Infecciones Relacionadas con Prótesis , Humanos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Estudios Retrospectivos , Infecciones Relacionadas con Prótesis/diagnóstico , Infecciones Relacionadas con Prótesis/epidemiología , Infecciones Relacionadas con Prótesis/etiología , Artroplastia de Reemplazo de Cadera/efectos adversos
4.
Indian J Orthop ; 56(11): 1969-1977, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36310558

RESUMEN

Introduction: The EcoFit® total hip endoprosthesis has recently been approved for clinical use in the USA as a substantially equivalent implant to the Taperloc® Hip System, but no report has directly compared their long-term results so far. The primary aim of the presented single-hospital EcoFit® cohort analysis was to determine femoral stem survival rates at 5/10 years of follow-up in comparison to eight Taperloc® studies published within the last decade (2011-2021). The secondary aim was to find out whether femoral stem survival depended on the patients' age, gender and the operating surgeon. Materials and Methods: The retrospective surgeon-stratified observational cohort study included 680 consecutive patients with primary EcoFit® femoral stem implanted at the same operating theatre block of a single tertiary hospital between April 2009 and December 2015. Survival analyses after 6-12 years of follow-up were performed with the Kaplan-Meier method and the Cox regression. Results: The cumulative proportion of revision-free surviving EcoFit® femoral stems 5/10 years after the primary implantation was 96/94%, respectively, and the cumulative proportion of unremoved stems was 99/98%, respectively. The EcoFit® stem revision rate of 0.46 per 100 components-years was not significantly different from most Taperloc® cohorts. Higher age increased the risk of subsequent EcoFit® femoral stem revision (hazard ratio 1.039, p = 0.048) while the impact of gender and the operating surgeon was not statistically significant. Conclusions: The study presents the first surgeon-stratified cohort analysis of the EcoFit®-Implantcast femoral stem from a single hospital with 5851 component years of observation. Long-term EcoFit® survival rates are comparable to the Taperloc® hip system. Caution is warranted when using such flat cementless single-wedge stems in the elderly population.

5.
Int J Surg Pathol ; 30(6): 596-605, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35098753

RESUMEN

Giant cell tumor of bone (GCTB) and tenosynovial giant cell tumor (TGCT) share misleadingly similar names, soft texture and brown color macroscopically, osteoclast-like multinucleated giant cells microscopically and localisation in the musculoskeletal system. However, these two tumor types are biologically and clinically two distinct entities with different natural courses of progression and considerably different modes of surgical and medical treatment. In this article, we provide a detailed update on the similarities and the differences between both tumor types.GCTB is a locally aggressive osteolytic bone tumor, commonly seen in patients in their third decade of life. It usually occurs as a solitary lesion in the meta-epiphyseal region of long bones. It can be diagnosed using plain radiographic imaging, CT radiography or MRI to estimate the tumor extent, soft tissue and joint involvement. GCTB is usually treated with intralesional excision by curettage. Systemically, it can be treated with bisphosphonates and denosumab or radiotherapy.TGCT is a rare, slowly progressing tumor of synovial tissue, affecting the joint, tendon sheath or bursa, mostly seen in middle-aged patients. TGCT is usually not visible on radiographs and MRI is mostly used to enable assessment of potential bone involvement and distinguishing between two TGCT types. Localised TGCT is mostly treated with marginal surgical resection, while diffuse TGCT is optimally treated with total synovectomy and is more difficult to remove. Additionally, radiotherapy, intraarticular injection of radioactive isotopes, anti-TNF-α antibodies and targeted medications may be used.


Asunto(s)
Neoplasias Óseas , Tumor Óseo de Células Gigantes , Tumor de Células Gigantes de las Vainas Tendinosas , Neoplasias Óseas/tratamiento farmacológico , Neoplasias Óseas/terapia , Tumor Óseo de Células Gigantes/patología , Tumor de Células Gigantes de las Vainas Tendinosas/diagnóstico por imagen , Tumor de Células Gigantes de las Vainas Tendinosas/cirugía , Humanos , Persona de Mediana Edad , Sinovectomía , Inhibidores del Factor de Necrosis Tumoral
6.
Int Orthop ; 46(4): 797-804, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35076769

RESUMEN

PURPOSE: Cemented total hip endoprosthesis Link Lubinus SP II has been used for decades with very good results in arthroplasty registries, but surgeon-stratified reports of endoprosthetic survival are very rare. The aim of the presented single hospital cohort analysis of this implant was to determine Link Lubinus SP II survival rates 10/15/20/25/30 years after the primary implantation and to find out whether endoprosthesis survival depended on patients' age, gender, operated side, implanted femoral head diameter, and the operating surgeon. METHODS: The study included 2943 consecutive primary Link Lubinus SP II hip endoprostheses implanted at the University Medical Centre Ljubljana, Department of Orthopaedic Surgery (Ljubljana, Slovenia) between January 1, 1985, and December 31, 2018. Kaplan-Meier analysis and Cox regression were performed after minimum two and maximum 30 years of follow-up. RESULTS: At 10/15/20/25/30 years after implantation, the estimated cumulative proportion of revision-free surviving Link Lubinus SP II total hip endoprostheses was 94/90/88/87/87% and the cumulative proportion with unremoved endoprosthetic components was 96/93/90/89/89%, respectively. Higher patient's age at operation was associated with lower risk of subsequent implant removal (hazard ratio 0.97 for each additional year of age; 95% confidence interval 0.95-0.99; p = 0.00), while the patient's gender, the implanted femoral head diameter, and the operating surgeon had no significant impact on implant survival. CONCLUSION: The study presents the largest published Link Lubinus SP II total hip arthroplasty cohort from a single non-developmental hospital with 26,981 component-years of observation. The findings highlight excellent outcomes of this implant in the elderly population, regardless of performance variability between surgeons.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Prótesis de Cadera , Cirujanos , Anciano , Artroplastia de Reemplazo de Cadera/efectos adversos , Artroplastia de Reemplazo de Cadera/métodos , Estudios de Cohortes , Estudios de Seguimiento , Prótesis de Cadera/efectos adversos , Hospitales , Humanos , Diseño de Prótesis , Falla de Prótesis , Reoperación
7.
Wien Klin Wochenschr ; 134(11-12): 434-441, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34735614

RESUMEN

BACKGROUND: Osteoid osteomas of the foot are rare, with a varying and atypical clinical as well as radiological presentation impeding early diagnosis and treatment. The aim of the present multicentre study was to 1) analyze epidemiological, clinical and radiological findings of patients with foot osteoid osteomas and to 2) deduce a diagnostic algorithm based on the findings. METHODS: A total of 37 patients (25 males, 67.6%, mean age 23.9 years, range 8-57 years) with osteoid osteomas of the foot were retrospectively included, treated between 2000 and 2014 at 6 participating tertiary tumor centres. Radiographic images were analyzed, as were patients' minor and major complaints, pain relief and recurrence. RESULTS: Most osteoid osteomas were located in the midfoot (n = 16) and hindfoot (n = 14). Painful lesions were present in all but one patient (97.3%). Symptom duration was similar for hindfoot and midfoot/forefoot (p = 0.331). Cortical lesions required fewer x­rays for diagnosis than lesions at other sites (p = 0.026). A typical nidus could be detected in only 23/37 of x­rays (62.2%), compared to 25/29 CT scans (86.2%) and 11/22 MRIs (50%). Aspirin test was positive in 18/20 patients (90%), 31 patients (83.8%) underwent open surgery. Pain relief was achieved in 34/36 patients (outcome unknown in one), whilst pain persisted in two patients with later confirmed recurrence. CONCLUSIONS: As previously reported, CT scans seem to be superior to MRIs towards detection of the typical nidus in foot osteoid osteomas. In patients with unclear pain of the foot and inconclusive x­rays, osteoid osteoma should be considered as differential diagnosis.


Asunto(s)
Neoplasias Óseas , Osteoma Osteoide , Adolescente , Adulto , Neoplasias Óseas/diagnóstico , Neoplasias Óseas/cirugía , Niño , Humanos , Masculino , Persona de Mediana Edad , Osteoma Osteoide/diagnóstico , Osteoma Osteoide/patología , Osteoma Osteoide/cirugía , Dolor , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
8.
Virchows Arch ; 479(4): 795-802, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34089379

RESUMEN

Aneurysmal (ABC) and simple bone cysts (SBC) have been traditionally distinguished by radiological and histopathological features. However, there is some radiological and histopathological overlap between ABC and SBC. ABC is characterised by USP6 fusions while, recently, NFATC2 fusions have been found in a large proportion of SBC. Identifying these fusions may assist in confirming the diagnosis of either ABC or SBC. To elaborate the potential benefit of molecular testing, we report a prospective series of 19 consecutive bone cysts with comprehensive radiological, histopathological and molecular diagnostics. Integrating radiological, histopathological and molecular findings, 11 cysts were diagnosed as SBC and 8 as ABC. Radiologically, 6 of 11 SBC and 6 of 8 ABC were diagnosed as ABC. Fibrin-like collagen deposits were identified in 8 of 11 (73%) SBC and 3 of 8 (38%) ABC. Nodular fasciitis-like areas were identified in 6 of 8 (75%) ABC and in 7 of 11 (64%) SBC. A USP6 fusion was identified in all 8 ABC, including a novel RBM5-USP6 fusion. An NFATC2 fusion was found in 7 of 11 SBC (FUS-NFATC2 fusion in 5 and EWSR1-NFATC2 in 2 cases). There is radiological and histopathological overlap between SBC and ABC in a significant proportion of cases. A diagnosis of ABC is frequently suggested radiologically in SBC, and fibrin-like deposits, thought to be specific for SBC, may be found in some ABC. Molecular testing may significantly improve diagnostic accuracy in bone cysts.


Asunto(s)
Quistes Óseos Aneurismáticos/diagnóstico , Quistes Óseos/diagnóstico , Adolescente , Adulto , Quistes Óseos/metabolismo , Quistes Óseos Aneurismáticos/metabolismo , Proteínas de Ciclo Celular/metabolismo , Niño , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Fascitis/patología , Femenino , Fusión Génica/fisiología , Humanos , Hibridación Fluorescente in Situ/métodos , Masculino , Persona de Mediana Edad , Factores de Transcripción NFATC/genética , Factores de Transcripción NFATC/metabolismo , Patología Molecular/métodos , Regiones Promotoras Genéticas/genética , Estudios Prospectivos , Proteínas de Unión al ARN/metabolismo , Proteínas Supresoras de Tumor/metabolismo , Ubiquitina Tiolesterasa/genética , Ubiquitina Tiolesterasa/metabolismo
9.
Int Orthop ; 45(4): 891-896, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-32572540

RESUMEN

PURPOSE: Leg-length changes at total hip arthroplasty (THA) may result from too proximal position of the femoral component, i.e. not being sunk deep enough into the femoral canal due to the size and shape of both medullary canal and implant. Some femoral implants are designed to achieve such fixation in the mediolateral dimension, while others also engage the bone anteroposteriorly. Our aim was to examine the relationship between proximal femoral morphology, osseointegration and leg-length equalization at THA. We asked whether the Dorr classification, femoral cortical index and canal flare index on preoperative radiographs had significant impact on THA aseptic loosening rates and post-operative leg-length discrepancy (LLD). METHODS: Literature review included original articles on proximal femoral morphology with post-operative LLD and other clinical outcomes of THA, published in the last decade. Case reports and biomechanical studies without clinical data were excluded. RESULTS: Higher femoral cortical index and/or canal flare index (corresponding to the Dorr type A) increases the risk of leg lengthening at THA. This is particularly notable in femoral stems with metaphyseal fixation, where high canal flare index has also been linked to osseointegration failure and implant loosening. On the other hand, lower canal flare index (corresponding to the Dorr type C) is more prevalent in the elderly population and increases late periprosthetic fracture rates and stress shielding. Even the most commonly used cementless femoral stems cannot offer optimal fit to intra-/extramedullary geometry or offset restoration in up to 30% of clinical cases. CONCLUSIONS: Femoral morphology can have significant impact on post-operative LLD and osseointegration of cementless THA. Quantitative measurements of the proximal femoral canal may improve the choice of a particular implant and fixation method.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Prótesis de Cadera , Anciano , Artroplastia de Reemplazo de Cadera/efectos adversos , Fémur/diagnóstico por imagen , Fémur/cirugía , Prótesis de Cadera/efectos adversos , Humanos , Pierna , Diseño de Prótesis , Estudios Retrospectivos
10.
Am J Surg Pathol ; 44(12): 1623-1634, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32991339

RESUMEN

A simple bone cyst (SBC) is a benign bone lesion of unknown etiology. It can be differentiated from an aneurysmal bone cyst (ABC) by radiologic and histopathologic features, as well as by the absence of fusions of the USP6 gene characteristic of an ABC. In an attempt to differentiate between ABC and SBC in a recurrent bone cyst, we performed targeted RNA sequencing and found an EWSR1-NFATC2 fusion and no fusion of the USP6 gene. We subsequently analyzed additional 10 cysts, consistent with SBCs after radiologic-pathologic correlation, for the presence of an NFATC2 gene fusion, by targeted RNA sequencing, reverse-transcription polymerase chain reaction (RT-PCR) and Sanger sequencing, and fluorescent in situ hybridization. Targeted RNA sequencing showed a FUS-NFATC2 fusion in 4 of 11 SBCs and an EWSR1-NFATC2 fusion in 2 of 11 SBCs. No fusion was identified in 3 SBCs and the analysis was not successful in 2 SBCs because of the low quantity or poor quality of isolated RNA. All the 6 fusions detected by targeted RNA sequencing were confirmed by RT-PCR and Sanger sequencing, and 5 of the 6 fusions by fluorescent in situ hybridization. An additional FUS-NFATC2 fusion was identified by RT-PCR, Sanger sequencing, and fluorescent in situ hybridization in 1 of the 3 cases negative for fusions by targeted RNA sequencing. At least a large subset of SBCs represents cystic neoplasms characterized by FUS-NFATC2 or EWSR1-NFATC2 fusions, which also define a group of distinct, rare "Ewing-like" sarcomas that predominantly arise in long bones. Our results provide additional evidence of the existence of benign lesions with FUS-NFATC2 or EWSR1-NFATC2 fusions. Although they can recur locally in a nondestructive manner, their clinical course and possible relation to sarcoma with EWSR1-NFATC2 or FUS-NFATC2 fusion remains to be elucidated.


Asunto(s)
Quistes Óseos/genética , Fusión Génica , Factores de Transcripción NFATC/genética , Proteínas de Fusión Oncogénica/genética , Proteína FUS de Unión a ARN/genética , Adolescente , Adulto , Quistes Óseos/diagnóstico por imagen , Quistes Óseos/patología , Quistes Óseos Aneurismáticos/genética , Quistes Óseos Aneurismáticos/patología , Niño , Diagnóstico Diferencial , Femenino , Marcadores Genéticos , Humanos , Hibridación Fluorescente in Situ , Masculino , Valor Predictivo de las Pruebas , Recurrencia , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ARN
11.
Arch Orthop Trauma Surg ; 140(9): 1275-1283, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32519076

RESUMEN

INTRODUCTION: The third-generation Zweymüller hip endoprosthesis has been used for decades with excellent results in arthroplasty registries, but surgeon-stratified reports on this implant are still scarce. The aim of the presented single-hospital cohort analysis of the third-generation Endoplus-Zweymüller primary total hip arthroplasty was to determine implant survival rates until the first revision/removal at 10/15/20/25 years after implantation and to find out whether implant survival depended on the operating surgeon, patient's age and gender, operated side (right/left), season of the year and the set of implanted components (SL-PLUS femur, BICON-PLUS acetabulum or both components). MATERIALS AND METHODS: The retrospective observational cohort study included 1976 consecutive patients with primary BICON/SL-PLUS Zweymüller hip endoprosthesis implanted at the same operating theater block of the University Medical Centre Ljubljana, Department of Orthopaedic Surgery (Ljubljana, Slovenia) between January 1, 1993 and May 1, 2014. Survival analyses were performed with the Kaplan-Meier method and the Cox regression analysis after minimum 5 and maximum 26 years of follow-up. RESULTS: At 10/15/20/25 years after implantation, the cumulative proportion of revision-free surviving Zweymüller total hip endoprostheses was 92/90/85/81% and the cumulative proportion with unremoved immobile components was 93/91/87/84%, respectively. After adjustment for age, gender and operated side, less experienced surgeons (odds ratios 2.34-5.00), season of the year at primary implantation (spring vs. winter odds ratio 1.74) and the use of BICON-PLUS acetabulum with femoral stem from another manufacturer (odds ratio 2.23) were significant risk factors of worse implant survival. CONCLUSIONS: The study presents the largest published third-generation Zweymüller BICON/SL-PLUS total hip arthroplasty cohort from a single non-developmental hospital with 23,255 component years of observation. Study findings indicate the impact of environmental factors at primary implantation and variability between different surgeons on the long-term implant survival.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Prótesis de Cadera , Estudios de Seguimiento , Articulación de la Cadera/cirugía , Humanos , Diseño de Prótesis , Reoperación/estadística & datos numéricos , Estudios Retrospectivos
12.
Genes Chromosomes Cancer ; 59(6): 357-365, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32011035

RESUMEN

Aneurysmal bone cyst (ABC) is a benign but locally aggressive neoplasm, with a tendency for local recurrence. In contrast to other bone tumors with secondary cystic change, ABC is characterized by USP6 gene rearrangement. There is a growing list of known USP6 fusion partners, characterization of which has been enabled with the advent of next-generation sequencing (NGS). The list of known fusion partners includes CDH11, CNBP, COL1A1, CTNNB1, EIF1, FOSL2, OMD, PAFAH1B1, RUNX2, SEC31A, SPARC, STAT3, THRAP3, and USP9X. Using NGS, we analyzed a series of 11 consecutive ABCs and identified USP6 fusions in all cases, providing further evidence that USP6 fusions are universally present in primary ABCs. We identified four novel fusion partners in five ABCs and confirmed them by RT-PCR and Sanger sequencing, ASAP1, FAT1, SAR1A, and TNC (in two cases). Because of high sensitivity and specificity, detection of a USP6 fusion by NGS may assist in differentiating between ABC and its mimics, especially in small biopsy samples when a definite diagnosis cannot be achieved on morphological grounds alone. Further studies with a large number of cases and follow-up are needed to determine whether different fusion partners are associated with specific clinical and pathologic features of ABCs.


Asunto(s)
Quistes Óseos Aneurismáticos/genética , Fusión Génica , Ubiquitina Tiolesterasa/genética , Proteínas Adaptadoras Transductoras de Señales/genética , Adolescente , Adulto , Anciano , Quistes Óseos Aneurismáticos/patología , Cadherinas/genética , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas de Unión al GTP Monoméricas/genética , Tenascina/genética
13.
J Orthop Res ; 38(2): 417-421, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31529732

RESUMEN

Our aim was to investigate the association of inflammasome polymorphisms NLRP3 rs35829419 (p. Q705K) and CARD8 rs2043211 (p. C10X) with aseptic loosening of total hip endoprostheses. We asked whether patients with the loosening of total hip arthroplasty earlier than 15 years after primary implantation had a higher proportion of the polymorphisms Q705K and C10X in comparison to subjects without loosening. A retrospective case-control study compared 36 patients with total hip endoprosthesis loosening earlier than 15 years after primary implantation and 51 control subjects with unloosened total hip endoprostheses, matched for gender, age, and follow-up period. Buccal mucosa samples were used for genomic DNA analysis and genotyped for NLRP3 rs35829419 and CARD8 rs2043211 using a fluorescence-based competitive allele-specific real-time polymerase chain reaction. The proportion of subjects with both wild-type NLRP3 and CARD8 (i.e., without Q705K or C10X) was considerably higher in the control group when compared with patients with early total hip arthroplasty loosening (49% vs. 28%; p = 0.05). After adjustment for gender, age, and follow-up, patients with combined wild type of both NLRP3 and CARD8 had significantly smaller odds for early implant loosening (odds ratio 0.33, p = 0.02). Investigated polymorphisms may influence several inflammatory pathways and contribute to the loosening of artificial implants with potential clinical significance for the appropriate selection of patients and endoprostheses when planning elective total hip arthroplasty. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 38:417-421, 2020.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Proteínas Adaptadoras de Señalización CARD/genética , Proteína con Dominio Pirina 3 de la Familia NLR/genética , Proteínas de Neoplasias/genética , Falla de Prótesis/etiología , Anciano , Femenino , Humanos , Inflamasomas/genética , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
14.
Eur J Orthop Surg Traumatol ; 30(1): 31-35, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31324968

RESUMEN

PURPOSE: To retrospectively analyze the entire cohort of patients in the Republic of Slovenia diagnosed with bone sarcomas in the long bones or pelvis/sacrum/coccyx from January 1, 2009, to December 31, 2018, with an observational nationwide study, whereby all patients were evaluated by one single tumor board in the country. We evaluated surgical outcomes and tested whether survival of bone sarcoma patients depended on age, gender, histological diagnosis. MATERIALS AND METHODS: Cancer Registry of the Republic of Slovenia was screened for all ICD-10 diagnoses from C40.0 to C40.9 and C41.4 in the designated time frame, and the patients were then clinically followed up until the end of the observation period on June 1, 2019. RESULTS: The cohort of 160 patients was treated surgically in 141 cases, 29 patients required subsequent revision(s) and cumulative endoprosthetic infection rate was 12.5%. In the follow-up, 54 patients died and the 2 patients were missing. Cumulative proportion of survival at 5/10 years was 61%/54%, respectively. After adjustment for age, gender and diagnosis, higher age (odds ratio 1.06 for each additional year), osteosarcoma (odds ratio 4.07) and Ewing sarcoma (odds ratio 11.68) were the significant risk factors of shorter oncological survival. CONCLUSION: This is the first Slovenian nationwide cohort study of bone sarcoma patients, unique in its circumscribed geographic area and evaluation/treatment at a single center by a single tumor board. Although comparable to other countries, results show a grim picture and the lack of improvement in bone sarcoma survival within the last 20 years.


Asunto(s)
Neoplasias Óseas/patología , Neoplasias Óseas/cirugía , Prótesis e Implantes/estadística & datos numéricos , Sistema de Registros , Sarcoma/patología , Sarcoma/cirugía , Adolescente , Adulto , Biopsia con Aguja , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/mortalidad , Niño , Estudios de Cohortes , Supervivencia sin Enfermedad , Femenino , Humanos , Inmunohistoquímica , Estimación de Kaplan-Meier , Masculino , Pronóstico , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Medición de Riesgo , Sarcoma/diagnóstico por imagen , Sarcoma/mortalidad , Eslovenia , Análisis de Supervivencia , Resultado del Tratamiento , Adulto Joven
15.
Clin Orthop Relat Res ; 477(6): 1324-1332, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-31136429

RESUMEN

BACKGROUND: Femoral stems with bimodular (head-neck as well as neck-body) junctions were designed to help surgeons address patients' hip anatomy individually. However, arthroplasty registers have reported higher revision rates in stems with bimodular junctions than in stems with modularity limited to the head-neck trunnion. However, to our knowledge, no epidemiologic study has identified patient-specific risk factors for modular femoral neck fractures, and some stems using these designs still are produced and marketed. QUESTIONS/PURPOSES: The purposes of this study were (1) to establish the survival rate free from aseptic loosening of one widely used bimodular THA design; (2) to define the proportion of patients who experienced a fracture of the stem's modular femoral neck; and (3) to determine factors associated with neck fracture. METHODS: In this retrospective, nationwide, multicenter study, we reviewed 2767 bimodular Profemur® Z stems from four hospitals in Slovenia with a mean followup of 8 years (range, 3 days to 15 years). Between 2002 and 2015, the four participating hospitals performed 26,132 primary THAs; this implant was used in 2767 of them (11%). The general indications for using this implant were primary osteoarthritis (OA) in 2198 (79%) hips and other indications in 569 (21%) hips. We followed patients from the date of the index operation to the date of death, date of revision, or the end of followup on March 1, 2018. We believe that all revisions would be captured in our sample, except for patients who may have emigrated outside the country, but the proportion of people immigrating to Slovenia is higher than the proportion of those emigrating from it; however, no formal accounting for loss to followup is possible in a study of this design. There were 1438 (52%) stems implanted in female and 1329 (48%) in male patients, respectively. A titanium alloy neck was used in 2489 hips (90%) and a cobalt-chromium neck in 278 (10%) hips. The mean body mass index (BMI) at the time of operation was 29 kg/m (SD ± 5 kg/m). We used Kaplan-Meier analysis to establish survival rates, and we performed a chart review to determine the proportion of patients who experienced femoral neck fractures. A binary logistic regression model that controlled for the potential confounding variables of age, sex, BMI, time since implantation, type of bearing, diagnosis, hospital, neck length, and neck material was used to analyze neck fractures. RESULTS: There were 55 (2%) aseptic stem revisions. Survival rate free from aseptic loosening at 12 years was 97% (95% confidence interval [CI] ± 1%). Fracture of the modular neck occurred in 23 patients (0.83%) with a mean BMI of 29 kg/m (SD ± 4 kg/m.) Twenty patients with neck fractures were males and 19 of 23 fractured necks were long. Time since implantation (odds ratio [OR], 0.55; 95% CI 0.46-0.66; p < 0.001), a long neck (OR, 6.77; 95% CI, 2.1-22.2; p = 0.002), a cobalt-chromium alloy neck (OR, 5.7; 95% CI, 1.6-21.1; p = 0.008), younger age (OR, 0.91; 95% CI, 0.86-0.96; p < 0.001), and male sex (OR, 3.98; 95% CI, 1.04-14.55; p = 0.043) were factors associated with neck fracture. CONCLUSIONS: The loosening and neck fracture rates of the Profemur® Z stem were lower than in some of previously published series. However, the use of modular femoral necks in primary THA increases the risk for neck fracture, particularly in young male patients with cobalt-chromium long femoral necks. The bimodular stem we analyzed fractured unacceptably often, especially in younger male patients. For most patients, the risks of using this device outweigh the benefits, and several dozen patients had revisions and complications they would not have had if a different stem had been used. LEVEL OF EVIDENCE: Level III, therapeutic study.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Fracturas del Cuello Femoral/epidemiología , Prótesis de Cadera/efectos adversos , Prótesis Articulares de Metal sobre Metal/efectos adversos , Falla de Prótesis , Aleaciones de Cromo , Femenino , Estudios de Seguimiento , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Diseño de Prótesis , Reoperación/estadística & datos numéricos , Estudios Retrospectivos , Factores de Riesgo , Eslovenia/epidemiología , Titanio
16.
Eur J Orthop Surg Traumatol ; 29(4): 793-799, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30680543

RESUMEN

PURPOSE: Patients with equal objective leg length discrepancy (LLD) may have different subjective perceptions of this condition. Our aim was to analyze the effects of gender, age, operated side, surgical approach, body height, body mass index (BMI) and LLD measurements on self-perceived LLD after total hip arthroplasty (THA). MATERIALS AND METHODS: Observational cohort study with minimum 5-year follow-up included 159 patients with unilateral primary THA at a single institution, who reported subjective feeling of equal or unequal leg lengths after THA. Gender, age, body height, BMI, surgical approach, preoperative and postoperative absolute/relative/pelvic radiographic LLD measurements were included in direct comparison between groups and multivariate analyses with self-perceived LLD as the outcome variable. RESULTS: Out of 159 participants, 39% subjectively perceived postoperative LLD, while others reported equal leg lengths. The two groups postoperatively differed in the median relative LLD (10 mm vs. 5 mm; p = 0.01) and WOMAC (230 mm vs. 110 mm; p < 0.01), but not in the pelvic radiographic LLD. After adjustment for gender, age, operated side and surgical approach, postoperative relative LLD (odds ratio 1.38 for each 5 mm increment; 95% CI 1.01-1.74) and combination of BMI < 26 kg/m2 and body height < 1.75 m (odds ratio 2.49; 95% CI 1.14-5.41) were independent risk factors for self-perceived LLD. CONCLUSIONS: Clinical relative LLD measurements are better predictors of self-perceived postoperative LLD than pelvic radiographic measurements. Patients with smaller body dimensions will more likely report subjective leg length inequality at a given objective LLD, regardless of gender or age.


Asunto(s)
Artroplastia de Reemplazo de Cadera/efectos adversos , Diferencia de Longitud de las Piernas/etiología , Estatura , Índice de Masa Corporal , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Diferencia de Longitud de las Piernas/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Osteoartritis de la Cadera/cirugía , Evaluación del Resultado de la Atención al Paciente , Complicaciones Posoperatorias , Factores de Riesgo , Autoinforme
17.
J Pediatr Orthop B ; 28(1): 51-56, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29688964

RESUMEN

Treatment of unicameral bone cysts (UBC) in the humerus with drainage screws is scarcely reported in the literature. The aim of this retrospective study was to compare drainage screws and alternative treatment methods with respect to the number of required surgical procedures to achieve sufficient UBC healing, postoperative fractures/recurrences/complications, and radiological outcome. Medical archives of two tertiary orthopedic referral centers were screened for all patients who were treated surgically for humeral UBC in the period 1991-2015 with a histologically/cytologically confirmed diagnosis. Sex, age, all surgical procedures, fractures, complications, recurrences, and the final radiological outcome were compared between patients treated with drainage screws, elastic intramedullary nails, or curettage with optional grafting. The study included 106 operated patients with a mean age of 10.3 years, with a mean follow-up of 5.7 years. The average number of UBC-related surgical procedures in sex-matched and age-matched treatment groups was 2.7 with drainage screws, 2.8 with intramedullary nails, and 3.5 with curettage/grafting (P=0.54). Intramedullary nails (odds ratio 0.20) and older age (odds ratio for each year 0.83) predicted a lower risk of postoperative UBC recurrence. Patients with drainage screws had the highest UBC recurrence rates and the lowest rates of changed initial treatment method. There was no difference between the treatment groups in the postoperative fracture rate, complications, or the final radiological outcome. UBC treatment in the humerus therefore requires approximately three surgical procedures, irrespective of the treatment modality chosen. Adding an elastic intramedullary nail to a humeral UBC cyst may reduce recurrence risk and prevent further fractures. Level of Evidence: Level III - therapeutic retrospective comparative study.


Asunto(s)
Quistes Óseos/cirugía , Clavos Ortopédicos , Tornillos Óseos , Legrado , Húmero/cirugía , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Estudios de Seguimiento , Humanos , Lactante , Recurrencia , Estudios Retrospectivos
18.
Cancer Genet ; 228-229: 12-16, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30553465

RESUMEN

Aneurysmal bone cyst (ABC) is a benign but locally aggressive, mostly pediatric neoplasm, with characteristic USP6 gene rearrangement that distinguishes it from a secondary ABC and other primary bone tumors. With the advent of next-generation sequencing (NGS) technology, several hitherto unknown USP6 fusion partners have been identified in ABC. Accordingly, we present a case of an 18-year-old male with a solid sub-periosteal primary ABC in the diaphysis of the left femur. Using an NGS-based assay, we identified SPARC-USP6 fusion, which has not previously been described in ABC. Including our case, the list of currently known USP6 fusion partners in primary ABC include: CDH11, CNBP, COL1A1, CTNNB1, EIF1, FOSL2, OMD, PAFAH1B1, RUNX2, SEC31A, SPARC, STAT3 and THRAP3.


Asunto(s)
Quistes Óseos Aneurismáticos/genética , Fusión Génica , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Osteonectina/genética , Proteínas Proto-Oncogénicas/genética , Ubiquitina Tiolesterasa/genética , Adolescente , Biopsia , Quistes Óseos Aneurismáticos/diagnóstico por imagen , Quistes Óseos Aneurismáticos/patología , Humanos , Masculino , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
19.
Arch Orthop Trauma Surg ; 138(1): 123-129, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29134317

RESUMEN

INTRODUCTION: The femoral stem should protrude from femur by an appropriate vertical distance to allow leg length equalization at hip arthroplasty; this distance depends on the size/shape of medullary canal and implant. The relationship between femoral morphology and achievability of leg length restoration is currently unclear. Our aim was to examine the impact of the femoral canal flare index (CFI) on the risk of leg length discrepancy (LLD) after total hip arthroplasty with different femoral stems. MATERIALS AND METHODS: The study cohort included 126 patients with unilateral primary total hip arthroplasty due to idiopathic osteoarthritis and three different types of implanted femoral stems. The impact of CFI on postoperative LLD was assessed with separate logistic regression model for each implant and covariables of age, gender, body mass index and femoral neck resection level. RESULTS: Higher CFI was an independent risk factor for postoperative LLD ≥ 5 mm with odds ratio 4.5 (p = 0.03) in 49 stems with cementless metaphyseal fixation Implantcast-EcoFit®, regardless of the femoral neck resection level. CFI had no significant impact on LLD in 30 stems with cementless diaphyseal fixation EndoPlus-Zweymüller® or 47 cemented collared stems Link-SPII®. No significant difference was observed between groups in pre/postoperative WOMAC scores, postoperative radiographic LLD, subjectively reported LLD, insole use or complications after mean 6.8 years of follow-up. CONCLUSIONS: Higher CFI increases the risk of clinically detectable postoperative LLD in single-wedge femoral stems with cementless metaphyseal fixation. CFI has no significant impact on LLD in femoral stems with cementless diaphyseal fixation or cemented fixation.


Asunto(s)
Artroplastia de Reemplazo de Cadera/efectos adversos , Prótesis de Cadera/efectos adversos , Diferencia de Longitud de las Piernas/etiología , Osteoartritis de la Cadera/cirugía , Adulto , Anciano , Femenino , Fémur/cirugía , Articulación de la Cadera/cirugía , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Riesgo
20.
Clin Orthop Relat Res ; 474(1): 258-64, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26253269

RESUMEN

BACKGROUND: Undiagnosed low-grade prosthetic joint infections (PJI) are recognized as an important reason for early failure of presumably aseptic revisions. Preoperatively administered antimicrobial prophylaxis reduces the incidence of PJI but it may reduce the sensitivity of microbiologic periprosthetic tissue cultures and consequently increase the incidence of undiagnosed septic prosthetic joint failures, which can lead to catastrophic serial revisions. QUESTIONS/PURPOSES: We wished to determine whether administration of preoperative antibiotics decreases the likelihood of diagnosing PJI in patients undergoing revision hip or knee arthroplasty in whom infection is suspected. METHODS: We prospectively enrolled and evaluated 40 patients (29 with THAs and 11 with TKAs) who met the following inclusion criteria: older than 18 years, with suspected PJI of unknown cause, undergoing surgical revision. After arthrotomy, three tissue samples were obtained for microbiologic analysis and diagnosis, and antimicrobial prophylaxis (cefazolin 2 g intravenously) then was administered. Later during the procedure, but before débridement and irrigation, the second set of three tissue samples was obtained from the same surgical area and was cultured. Tissue concentration of prophylactic antibiotic was verified with the second set of samples. A positive culture result was defined as one or more positive cultures (growth on agar at or before 14 days). We then compared the yield on the microbiologic cultures obtained before administration of antibiotics with the yield on the cultures obtained after antibiotics were administered. An a priori analysis was performed; with the numbers available, we had 98% power to detect a difference in diagnostic sensitivity of 33%. RESULTS: With the numbers available, we found no difference in the likelihood that an infection would be diagnosed between the samples obtained before and after administration of antimicrobial prophylaxis (odds ratio [OR] for positive microbial culture = 0.99; 95% CI, 0.40-2.48; p = 0.99). All measured tissue concentrations of cefazolin were greater than the minimum inhibitory concentration, therefore we found that antibiotic prophylaxis was adequate at the time of second-set tissue specimen recovery. CONCLUSIONS: Results from this small, prospective series suggest that preoperative antimicrobial prophylaxis may be administered safely even in patients undergoing revision hip or knee arthroplasty in which microbiologic sampling is planned without compromising the diagnostic sensitivity of tissue sample cultures. However, before applying our results more generally, our findings need to be confirmed in larger, multicenter studies that would allow evaluation by sex, procedure, bacteriology, and other potentially important factors. LEVEL OF EVIDENCE: Level I, diagnostic study.


Asunto(s)
Antibacterianos/administración & dosificación , Profilaxis Antibiótica , Artroplastia de Reemplazo de Cadera/efectos adversos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Prótesis de Cadera/efectos adversos , Prótesis de la Rodilla/efectos adversos , Infecciones Relacionadas con Prótesis/diagnóstico , Anciano , Anciano de 80 o más Años , Artroplastia de Reemplazo de Cadera/instrumentación , Artroplastia de Reemplazo de Rodilla/instrumentación , Desbridamiento , Esquema de Medicación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Valor Predictivo de las Pruebas , Estudios Prospectivos , Infecciones Relacionadas con Prótesis/microbiología , Infecciones Relacionadas con Prótesis/cirugía , Reoperación , Factores de Riesgo , Irrigación Terapéutica , Resultado del Tratamiento
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