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Purpose: Osteoporotic fragility fractures (FF), particularly those affecting the hip, represent a major clinical and socio-economic concern. These fractures can lead to various adverse outcomes, which may be exacerbated by the presence of sarcopenia, especially among older and frail patients. Early identification of patients with FF is crucial for implementing effective diagnostic and therapeutic strategies to prevent subsequent fractures and their associated consequences., Methods: The Hip-POS program, implemented at Azienda Ospedale-Università Padova, is a Fracture Liaison Service (FLS) program to evaluate patients aged > 50 years old admitted with fragility hip fractures, involving an interdisciplinary team. After the identification of patients with hip fractures in the Emergency Department, a comprehensive evaluation is conducted to identify risk factors for further fractures, and to assess the main domains of multidimensional geriatric assessment, including muscle status. Patients are then prescribed with anti-fracture therapy, finally undergoing periodic follow-up visits., Results: During the first five months, a total of 250 patients were evaluated (70.4% women, median age 85 years). Following assessment by the Hip-POS team, compared to pre-hospitalization, the proportion of patients not receiving antifracture therapy decreased significantly from 60 to 21%. The prescription rates of vitamin D and calcium increased markedly from 29.6% to 81%., Conclusions: We introduced the Hip-POS program for the care of older adults with hip fractures. We aspire that our model will represent a promising approach to enhancing post-fracture care by addressing the multifactorial nature of osteoporosis and its consequences, bridging the gap in secondary fracture prevention, and improving patient outcomes., (© 2024. The Author(s).)

Background and Purpose: Covert paroxysmal atrial fibrillation (pAF) is the most frequent cause of cardiac embolism. Our goal was to discover parameters associated with early pAF detection with intensive cardiac monitoring., Method: Crypto-AF was a multicentre prospective study (four Comprehensive Stroke Centres) to detect pAF in non-lacunar cryptogenic stroke continuously monitored within the first 28 days. Stroke severity, infarct pattern, large vessel occlusion (LVO) at baseline, electrocardiography analysis, supraventricular extrasystolia in the Holter examination, left atrial volume index and brain natriuretic peptide level were assessed. The percentage of pAF detection and pAF episodes lasting more than 5 h were registered., Results: Out of 296 patients, 264 patients completed the monitoring period with 23.1% (61/264) of pAF detection. Patients with pAF were older [odds ratio (OR) 1.04, 95% confidence interval (CI) 1.01-1.08], they had more haemorrhagic infarction (OR 4.03, 95% CI 1.44-11.22), they were more likely to have LVO (OR 4.29, 95% CI 2.31-7.97) (P < 0.0001), they had a larger left atrial volume index (OR 1.03, 95% CI 1.01-1.1) (P = 0.0002) and they had a higher level of brain natriuretic peptide (OR 1.01, 95% CI 1.0-1.1). Age and LVO were independently associated with pAF detection (OR 1.06, 95% CI 1.00-1.16, and OR 4.58, 95% CI 2.27- 21.38, respectively). Patients with LVO had higher cumulative incidence of pAF (log rank P < 0.001) and more percentage of pAF > 5 h [29.6% (21/71) vs. 8.3% (12/144); OR 4.62, 95% CI 2.11-10.08; P < 0.001]. In a mean follow-up of 26.82 months (SD 10.15) the stroke recurrence rate was 4.6% (12/260)., Conclusions: Large vessel occlusion in cryptogenic stroke emerged as an independent marker of pAF., (© 2020 European Academy of Neurology.)

Background: According to the required reorganization of all hospital activities, the recent COVID-19 pandemic had dramatic consequences on the orthopedic world. We think that informing the orthopedic community about the strategy that we adopted both in our hospital and in our Department of Orthopedics could be useful, particularly for those who are facing the pandemic later than Italy., Methods: Changes were done in our hospital by medical direction to reallocate resources to COVID-19 patients. In the Orthopedic Department, a decrease in the number of beds and surgical activity was stabilized. Since March 13, it has been avoided to perform elective surgery, and since March 16, non-urgent outpatient consultations were abolished. This activity reduction was associated with careful evaluation of staff and patients: extensive periodical swab testing of all healthcare staff and swab testing of all surgical patients were applied., Results: These restrictions determined an overall reduction of all our surgical activities of 30% compared to 2019. We also had a reduction in outpatient clinic activities and admissions to the orthopedic emergency unit. Extensive swab testing has proven successful: of more than 160 people tested in our building, only three COVID-19 positives were found, and of over more than 200 surgical procedures, only two positive patients were found., Conclusions: Extensive swab test of all people (even if asymptomatic) and proactive tracing and quarantining of potential COVID-19 positive patients may diminish the virus spread.

Objective: Infection after orthopaedic oncology surgery is a relatively frequent complication. Infection rate ranges in the literature between 3.7% and 19.9%, increasing up to 47% after pelvic resection and reconstruction. It represents a challenging topic when occurring in oncologic patients because of the delay of systemic and local treatments, influencing prognosis. Infection is a major concern in terms of both prevention and treatment. The aim of our review was to analyze data reported in the literature about strategies and new materials for infection prevention in musculoskeletal oncology surgery., Materials and Methods: We reviewed the literature focusing on the use of new materials that can reduce the risk of infection, avoiding biofilm formation on the implant surface., Results and Discussion: New materials are available to try to reduce the risk of infection. Iodine-coating, DAC-coating or silver-coating, are the more promising technologies available at today. Initial results with DAC-coating in non-oncological patients are interesting; however, studies about its efficacy in preventing infection in orthopaedic oncology are not present in literature. On the other side, iodine-coating implants or silver-coating prostheses demonstrated efficacy against early infections, associated with lower risk of implant removal and amputation as final surgery., Conclusions: Post-operative infections in orthopaedic oncology surgery are still frequent, and their diagnosis and treatment are demanding. According to the literature, silver-coated prostheses should be considered as the best option in case of revision surgery due to infection. However, there is no evidence that these new materials are effective to decrease the risk of infection drastically. Further studies with numerous series and long-term follow up are required.

The introduction of multidisciplinary approach with chemo and radiotherapy, the advances in surgical and the improvements of diagnostic techniques allowed limb salvage surgery in most cases of bone sarcomas instead of amputation. Modular megaprostheses are the most common method of reconstruction after segmental resection of the long bones in the extremities for their availability, immediate fixation, early weight bearing, good function. Despite the advances in materials and implant designs, these systems have an high incidence of complications. Aim of this study was to report the experience on mega-prostheses implanted around the knee in tumor and revision surgery to analyze: the most frequent used current systems, the problems of stems fixation, extensor mechanism reconstructions in proximal tibia resections and the preservation of growth of the lower extremity in children.

Aims: Instability of the hip is the most common mode of failure after reconstruction with a proximal femoral arthroplasty (PFA) using an endoprosthesis after excision of a tumour. Small studies report improved stability with capsular repair of the hip and other techniques, but these have not been investigated in a large series of patients. The aim of this study was to evaluate variables associated with the patient and the operation that affect post-operative stability. We hypothesised an association between capsular repair and stability., Patients and Methods: In a retrospective cohort study, we identified 527 adult patients who were treated with a PFA for tumours. Our data included demographics, the pathological diagnosis, the amount of resection of the abductor muscles, the techniques of reconstruction and the characteristics of the implant. We used regression analysis to compare patients with and without post-operative instability., Results: A total of 20 patients out of 527 (4%) had instability which presented at a mean of 35 days (3 to 131) post-operatively. Capsular repair was not associated with a reduced rate of instability. Bivariate analysis showed that a posterolateral surgical approach (odds ratio (OR) 0.11, 95% confidence interval (CI) 0.02 to 0.86) and the type of implant (p = 0.046) had a significant association with reduced instability; age > 60 years predicted instability (OR 3.17, 95% CI 1.00 to 9.98). Multivariate analysis showed age > 60 years (OR 5.09, 95% CI 1.23 to 21.07), female gender (OR 1.73, 95% CI 1.04 to 2.89), a malignant primary bone tumour (OR 2.04, 95% CI 1.06 to 3.95), and benign condition (OR 5.56, 95% CI 1.35 to 22.90), but not metastatic disease or soft-tissue tumours, predicted instability, while a posterolateral approach (OR 0.09, 95% CI 0.01 to 0.53) was protective against instability. No instability occurred when a synthetic graft was used in 70 patients., Conclusion: Stability of the hip after PFA is influenced by variables associated with the patient, the pathology, the surgical technique and the implant. We did not find an association between capsular repair and improved stability. Extension of the tumour often dictates surgical technique; however, our results indicate that PFA using a posterolateral approach with a hemiarthroplasty and synthetic augment for soft-tissue repair confers the lowest risk of instability. Patients who are elderly, female, or with a primary benign or malignant bone tumour should be counselled about an increased risk of instability. Cite this article: Bone Joint J 2017;99-B:531-7., (©2017 The British Editorial Society of Bone & Joint Surgery.)

Background: The minimally invasive direct anterior approach (MDAA) has been reported to be useful in total hip arthroplasty. The benefits of this approach may be useful for the treatment of femoral neck fractures. Aim of this study is to compare MDAA and postero-lateral approach (PLA) in patients treated with hip hemiarthroplasty for femoral neck fractures., Materials and Methods: Between 2013 and 2014, 109 patients underwent bipolar hip hemiarthroplasty for femoral neck fracture: 88 female and 21 male with a mean age of 88 years old. PLA was performed in 54 cases and MDAA in 55 cases., Results: The mean surgery time was significantly lower in MDAA group (P = 0.001). The hemoglobin loss was significantly lower in MDAA group (P = 0.02). The mean postoperative pain was significantly lower in the MDAA group (P = 0.001). The mean hospitalization period was 2 days lower in the MDAA group but with no significant difference between the two groups (P = 0.09). Hip dislocation was higher in PLA cases (7.4 %) than in MDAA cases (1.8 %). Periprosthetic fracture occurred only in one case of PLA. Great trochanter fracture occurred in 1 MDAA cases, while no cases were observed in the PLA group., Conclusions: Minimally invasive direct anterior approach for hip hemiarthroplasty in elderly people with femoral neck fracture provided significant benefit in the early postoperative period when compared to the postero-lateral approach in terms of surgery time, hemoglobin loss, postoperative pain, time of recovery and dislocation rate., Level of Evidence: Therapeutic study, level IV (case series).

Aim: The expression differences of SCN8A (which encodes type VIII alpha subunit of voltage gated sodium channel) and NDUFC2 (which encodes C2 subunit of Complex I enzyme in oxidative phosphorylation) genes were evaluated in paired colorectal cancer (CRC) tissues which was relied on our partial transcriptome analysis data in cancer cell lines., Materials and Methods: A total of 62 paired tissues of CRC patients (34 male, 28 female) were included in the study. The mRNA levels of SCN8A and NDUFC2 genes were determined by using real-time PCR (qRT-PCR and semiquantitative PCR)., Results: SCN8A gene expression level was significantly lower in tumor tissues (p = 0.0128) and in the patients with the age below 45 years (p = 0.0049). There were also meaningful relationships between the gender, grade of CRC, tumor location, histopathological classification, and SCN8A expression. There was no NDUFC2 differential expression. However, the tumors taken from right colon had significantly lower NDUFC2 expression., Conclusion: Although the voltage gated sodium channels (VGSCs) and Complex I (CI) were associated to a number of diseases including different types of cancers, the different subunits of CI and individual members of VGSCs seem to be cancer type-specific in varying proportions.

Myoepithelioma is a very rare tumour. This tumor type has been reported in the soft tissue, ear, sinonasal cavity, breast and lung. Although rare, myoepithelioma can occur in bone. We present the first case of myoepithelioma in the spine, documenting the clinical, radiographic and pathological features.

Background and Objectives: Retrospectively analyze outcomes of current-generation Global Modular Replacement System (GMRS) modular tumor endoprosthesis for the lower limb in primary and secondary implantation procedures., Methods: Two hundred ninety five prostheses were implanted, 197 were primary implants, 98 were for revision surgery; revision procedures included 84 failed tumor reconstructions and 14 failed non-tumor reconstructions. Anatomic sites included: distal femur 199; proximal tibia 60; proximal femur 32;total femur 4. Endoprosthesis failures were classified as soft-tissue failures (Type 1), aseptic loosening (Type 2), structural fracture (Type 3), infection (Type 4), and tumor recurrence (Type 5). MSTS functional scores were measured., Results: The overall failure rate was 28.8% and failure occurred at a median of 1.7 years (range, 1 month to 7 years). At a mean oncologic follow up of 4.2 years (range, 2-8 years), 195 patients are continuously NED, 43 NED after treatment of relapse, 10 AWD, 33 DWD. There was a significant difference in implant survival of all modes of failure between primary and revision implants (P = 0.03). No prosthetic fracture occurred. The average functional score was 81.6% (24.5)., Conclusions: Mid-term results with GMRS are promising, with good functional results and low incidence of complications for primary implants., Level of Evidence: Therapeutic study, level IV-1 (case series)., (© 2013 Wiley Periodicals, Inc.)

Purpose: To determine the survival and failures of cemented vs cementless endoprostheses., Methods: We retrospectively studied 232 patients treated with lower limb salvage surgery and reconstruction using cementless and cemented endoprostheses from 2002 to 2007. We compared survival and failures of the endoprostheses regarding age, gender, body mass index (BMI), diagnosis, site of reconstruction, radiation therapy, chemotherapy, and stem fixation., Results: The mean patient follow-up was 28 months (median 24; range 12-84). The overall survival of cemented and cementless endoprostheses at 60 months was 64 and 78%, respectively (p=0.0078). Survival at 60 months of cemented and cementless endoprostheses to infection was 68 and 82%, respectively (p=0.0248). Survival of cemented and cementless endoprostheses to aseptic loosening at 60 months was 94 and 96%, respectively (p=0.1493). The only significant univariate and multivariate predictor of survival was the cementless type of stem fixation., Conclusion: Cementless endoprostheses have higher overall survival and survival to infection compared to cemented endoprostheses. Survival to aseptic loosening is not different. Stem fixation is the only significant variable for survival.

Any surgical resection in the lower extremities in children will cause a leg length discrepancy from physeal resection. To avoid the resulting functional deficit, leg length discrepancy must be reconciled with surgical techniques to approximate equal leg lengths at skeletal maturity. Currently there are several manufacturers who offer options for prosthetic reconstruction with expandable implants. These implants can be expanded to a length projected on the basis of three factors: the length of bone resected, the anticipated future growth of the contralateral extremity, and the estimated discrepancy of limb length at skeletal maturity. In this article, we review the basic principles and guidelines for prediction of remaining bone growth and planning lengthening in children, and present the currently available expandable prostheses and the evolution performed over time.

Background: Alport syndrome (AS) is a renal disease that is characterized by proteinuria and progressive renal failure, and often accompanied by sensorineural hearing loss and ocular changes. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. We describe a large Turkish family with X-linked AS. We performed linkage analysis in this family and sequencing to identify the mutation in the proband whose disease was confirmed by renal biopsy., Methods: After genomic DNAs extracted, linkage to the COL4A5 locus was examined using the 2B6 and 2B20, DXS1106, DXS1105 and COL4A5 markers. In addition, COL4A5 gene sequence analysis was performed in the proband., Results: Genetic linkage analysis demonstrated co-segregation of the disease. Haplotype analysis showed that the same haplotype was carried by all affected males and obligatory carrier females. Mutation analysis of the proband has revealed a novel nonsense mutation (c.1135C>T; Gln379X) in exon 19 of the COL4A5 gene which may lead to a more severe phenotype in affected family members carrying this mutation. According to GenBank data base, this mutation has not been reported previously., Conclusion: Genetic testing identified a previously undescribed COL4A5 mutation as the cause of the disease.

Reports of abnormal karyotypes or normal 46,XY karyotypes of the abortion materials derivated from tissue cultures are mostly addressing the pregnancy loss tissues. The accuracy of the cytogenetic reports of normal 46,XX karyotypes is obscure, as the results may reflect the normal karyotyped female pregnancy losses or the hidden maternal decidual cells covering the cytogenetically normal or abnormal male or female products of conception. In the present study, thirty-eight 46,XX normal karyotyped abortion materials cultivated from villi were re-analysed for excluding maternal cell contamination by using molecular approaches in an accurate algorithm. Abortion materials DNAs were amplified by polymerase chain reaction (PCR) technique in order to search the products of the sex determinating region gene of chromosome Y (SRY). Sixteen out of 38 abortion materials revealed Y-chromosome component (42.1%). Amplification negative DNAs and their parental DNAs were genotyped by using high-polymorphic microsatellite DNA markers to identify the origin of the components of the chromosome X. Maternal chromosome X components were detected in 18 (81.8%). As a result, SRY amplifications and genotypings ascertained the high rate of maternal decidual cells in 46,XX products of conception.

Bone tumours and tumour-like lesions of the hip in children are rare. Signs and symptoms of these tumours are generally nonspecific. Delay of diagnosis is not uncommon. A high index of suspicion in young patients presenting with persistent pain and without history of trauma, that is unresolved with conservative therapy should prompt further investigation, including radiographs or computed tomography scan of the pelvis. In the experience of the Istituto Rizzoli, in patients less than 14 years (mean 9 years, ranged from 6 months to 14 years), 752 tumours and tumours-like lesions occurred in the pelvis or proximal femur, involving the hip. Tumour-like lesions accounted for 322 cases (simple bone cyst in 255, eosinophilic granuloma in 43, aneurismal bone cyst in 34), benign tumours for 340 cases (osteoid osteoma in 229, fibrous dysplasia in 63, exostosis in 48) and malignant tumours for 80 cases (Ewing's sarcoma in 53 and osteosarcoma in 27). The epidemiology, pathology, clinical presentation, and radiograph findings are discussed for each of these tumours.Treatment of these tumours differs from observation or minimally invasive treatment for most pseudotumoural lesions, intralesional excision or termoablation for benign bone tumours and wide resection for malignant bone tumours. In this latter group, chemotherapy is required and often administered pre- and postoperatively.

Marker or ring X chromosomes are frequently seen in Ullrich-Turner Syndrome with 46,X,r(X) karyotype, but only 8 children were reported with an extra marker X chromosome in at least some of their cell lines, we describe a 5 years old male patient who is mosaic (17%) for a cell line with an extra ring shaped marker X chromosome in addition to a normal 46,XY cell line. He had mild motor mental retardation, a dysmorphic face, dysplastic ears, high arched palate, cryptorchidism and brachydactyly. G-banding showed 46,XY[83]/47,XY,+r?[17] karyotype. NOR banding revealed no satellite region but its centromere was intact in C-banding. By fluorescent in situ hybridization (FISH) technique, dual X/Y alpha-satellite probes were used to detect the origin of ring shaped marker chromosome and 17% of his cells had two X chromosome signals due to marker X; hybridization with X chromosome inactivation center (XIST) specific probe revealed the absence of the locus on the ring chromosome. In this report, clinical features of our patient are compared with previously reported cases and the cytogenetic and molecular cytogenetic techniques used to detect origin of marker chromosome are discussed.

We report a case of prenatally diagnosed mosaic trisomy 20 in cells cultured from amniotic fluid. Trisomy 20 was present in 7 cells (13 percent) in a total of 52 investigated cells. Following the normal findings of an ultrasound scan, the couple decided to continue the pregnancy. A dysmorphic infant was born at the 38 weeks of gestation with generalized dysmorphic features and multiple cardiac anomalies including transposition of great arteries. Chromosome analysis on both cord blood and placenta at birth revealed a normal 46,XX karyotype. This patient is the first case of a liveborn infant with mosaic trisomy 20 cells detected in amniotic fluid culture with transposition of great arteries, atrioventricular concordance and ventricoarterial discordance.

Partial trisomy 1q including different segments of the long arm is a rare cytogenetic anomaly. Especially the cases with mosaic proximal tandem duplication of 1q included a longer fragment are very rare. Cases who have partial 1q trisomy showed large phenotypic variation due to the differences in size of the duplicated segments of 1q. The clinical phenotype of most cases is characterized by multiple congenital anomalies especially including central nervous system and developmental delay. We describe a prenatally diagnosed case with mild cerebral ventriculomegaly and karyotype with mosaic pure trisomy of chromosome 1q [(46,XX/46,XX,dup(1)(q21qter)]. Phenotypic postmortem examination showed cranial asymmetry, flat and broad nasal bridge, anteverted nostrils, hypertelorism, retrognathia, abnormal pinnae, hypoplasic thumbs, long fingers and toes, mediodorsal curvature of the 4th and 5th toes and posterior prominence of the heel was observed. Autopsy confirmed the ventriculomegaly. Postmortem chromosome preparation from skin culture, cord blood and intracardiac blood confirmed the mosaic pure trisomy of chromosome 1q.

The presence of acetate in the dialysate appears to be superfluous in the new depurative technique indicated as biofiltration, which consists in a standard hemodialysis with high ultrafiltration combined with the reinfusion of 3-4 1/2 liters of solution containing bicarbonate. The presence of acetate could in fact be contraindicated by a number of potential side effects, metabolic, cardiovascular and biological. Hence, starting from the consideration that in standard biofiltration a buffer is already infused directly as bicarbonate, we tried to overcome the potential hazards of the acetate-containing bath simply by using a dialysate without acetate and by increasing the concentration of bicarbonate in the reinfusate. A cumulative clinical experience of 20 months in 4 patients proved the feasibility and safety of the technique and suggests further advantages over standard biofiltration (better control of acid-base equilibrium, better cardiovascular stability.