Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series.

Background/Objectives: Pycnodysostosis is a rare genetic disorder causing skeletal dysplasia. It is determined by a gene mutation leading to cathepsin K deficiency and predisposes a patient to osteosclerosis, resulting in increased bone fragility. The altered bone quality typical of this disease is responsible for an increased risk of fractures. The purpose of our study was to evaluate the orthopedic manifestations and potential pitfalls in the surgical treatments of pathological fractures in a series of patients treated in our institution who were affected by pycnodysostosis. Methods: We retrospectively evaluated clinical and radiographic characteristics of five patients with pycnodysostosis treated for pathological fractures at our hospital in the past 5 years. Results: Two male and three female patients were included in this study. Four patients had a family history of pycnodysostosis. All the patients were of short stature, but only two underwent growth hormone treatment. All the patients experienced fractures, mostly in their lower limbs and occurring as a result of low-energy trauma. Most of the patients experienced either consolidation delay or nonunion. Conclusions: The orthopedic management of fractures in patients with pycnodysostosis poses an ongoing challenge for orthopedic surgeons. The fact that the bone is simultaneously sclerotic and brittle makes any orthopedic surgical treatment challenging and at a high risk of nonunion in any case.

Short-segment percutaneous fusion versus open posterior fusion with screw in the fractured vertebra for thoracolumbar junction burst vertebral fracture treatment.

Objectives: The treatment options for thoracolumbar junction burst fractures remain a topic of controversy. Short-segment percutaneous fixation (SSPF) and short-segment open fixation including the fractured level (SSOFIFL) are both viable procedures for managing these fractures. At present, there is a lack of evidence in the literature demonstrating the absolute superiority of one treatment over the other. This study aimed to compare these two surgical strategies with a focus on radiological and clinical outcomes. Materials and Methods: This retrospective case-control multicenter analysis involved patients with A3 and A4 vertebral fractures at the thoracolumbar junction (T11-L2) who underwent surgical treatment with either SSPF or SSOFIFL in the participating centers. Clinical outcomes were measured using the Oswestry Disability Index and visual analogue scale (VAS) both pre- and postoperatively. Radiological outcomes included kyphotic deformity (KD), anterior vertebral body height (AVBH), segmental kyphosis, and sagittal alignment parameters. Results: A total of 156 patients were enrolled in the study, with 81 patients in Group A (SSPF) and 75 patients in Group B (SSOFIFL). Group B demonstrated better correction of KD (Group B: 3.4 ± 2.7° vs. Group A: 8.3 ± 3.2°, P = 0.003), AVBH, and sagittal alignment. A minor loss of correction was observed in Group B with respect to Group A (0.9 ± 1.7° vs 4.3° ± 2.1°, P = 0.043). Blood losses were lower in Group A (78 ± 15 min vs. 118 ± 23 min, P = 0.021) as well as during surgery (121.3 ± 34 mL vs. 210.2 ± 52 mL, P = 0.031), but the post-operative hemoglobin levels were comparable between the two groups. Conclusion: SSOFIFL appears to show a major amount of KD correction and prevent loss of correction. This technique should be the preferred choice whenever possible. However, SSPF can be considered a valid alternative for damage control in polytrauma patients and fractures with low KD.

Electrochemotherapy in the Treatment of Bone Metastases: A Systematic Review.

BACKGROUND AND AIM: Cancers are one of the most frequent causes of death and disability in humans. Skeletal involvement has a major impact on the quality of life and prognosis of cancer patients. Electrochemotherapy is a palliative and minimally invasive oncologic treatment that was first used to treat subcutaneous nodules for malignant tumors. The aim of our review is to evaluate the results of electrochemotherapy in the treatment of bone metastases. METHODS: A systematic review of the literature indexed in the PubMed MEDLINE and Cochrane Library databases using the search key words "electrochemotherapy" AND ("metastasis" OR "metastases") was performed. The Preferred Reporting Items for Systematic Reviews and MetaAnalyses was followed. Inclusion criteria were proven involvement of the appendicular skeleton in metastatic carcinoma or melanoma, through at least one percutaneous electrochemotherapy session on the metastatic bone lesion. The exclusion criterion was no skeletal metastatic involvement. RESULTS: Eight articles were finally included. We reached a population of 246 patients. The mean age and follow up were 60.1 years old and 11.4 months, respectively. The most represented primary tumor was breast cancer (18.9%). A total of 250 bone lesions were treated with electrochemotherapy. According to RECIST criteria, in our population we observed 55.5% stable diseases. The mean pre-electrochemotherapy VAS value was 6.9, which lowered to 2.7 after treatment. Adverse events occurred in 3.4% of patients. CONCLUSIONS: Electrochemotherapy as a minimally invasive and tissue-sparing treatment should be considered for patients with no other alternative to obtain tumor control and improvement in quality of life.

Correction of a severe coronal malalignment in adult spinal deformity using the "kickstand rod" technique as primary surgery.

OBJECTIVE: Adult spinal deformity (ASD) is a growing healthcare issue due to the aging population. A satisfying spine balance in both sagittal and coronal planes is achieved through surgery. Only few studies about the coronal alignment correction with the kickstand rod were reported in the literature, until now. The aim of the present study was to describe clinical and radiological outcomes of the Kickstand rod (KR) technique in a series of ASD patients with severe coronal malalignment after 1 year of follow-up. MATERIAL AND METHODS: Six patients affected by ASD with severe CM who underwent surgery between 2018 and 2019 were retrospectively analyzed. The mean follow up was 14 months. All patients had posterior-only approach with long pelvic-thoracic fixation according to the Kickstand rod technique. RESULTS: Postoperative alignment and pain numerical rating scale scores significantly improved. No instrumentation complications occurred. A coronal alignment improvement from a mean of 163 mm preoperatively to a mean of 32 mm postoperatively was observed. CONCLUSION: KR technique appears to be a safe and efficient way for coronal and sagittal imbalance correction in ASD patients. Although technically demanding, by using this technique good and stable radiological and functional outcomes are achieved especially in selected patients.

Bifocal parosteal osteoma of femur: A case report and review of literature.

Osteoma is a benign, slowly growing, asymptomatic, bone-forming tumor arising from cancellous or compact bone. Osteoma usually is a solitary lesion, but in patients with Gardner's Syndrome it may be multiple. osteoma may rarely have a parosteal localization. Parosteal osteoma has peculiar radiographic, histologic and clinical features. We describe a case report of a 51- years old man with a bifocal parosteal osteoma of the femur in a non-syndromic patient. This is the first described patient with a bifocal lesion. In literature only 24 cases of paraosteal osteoma are found. Our patient underwent surgery and the lesions were fully excised. At one year follow-up there was no evidence of recurrence.

Foot metastasis: Current knowledge.

Foot metastasis are rare and often overlooked due to non-specifical symptoms. This often leads to misdiagnosis delaying the right diagnosis. Metastatic disease of the foot is rare. Foot pain and swelling may be the presenting symptom of an occult malignancy. If metastatic disease is not kept in the differential diagnosis of foot pain, diagnosis and treatment will be delayed. The purpose of this study was to analyze articles presenting cases of foot metastasis to provide a more accurate incidence of symptomatic foot acrometastasis as well as to review the clinical course and outcomes. Studies were searched on PubMed/Medline from the inception to February 2020. All studies included in the review presented foot metastasis either with or without a known primary tumor. Most of the articles were case reports, to which we added two case reports of foot acrometastasis produced by our Institute. Forty-three studies with a total of 45 patients were included in this review. The literature published mostly concerning case reports about old patients (average age: 63,2), in a late phase of their disease. Lung cancer appeared to be the most common primary tumor, followed by endometrial and breast cancer. In the 36% of the cases foot metastasis were found when the primary site was still unknown. Calcaneus and metatarsal bones were the most common bones involved. Surgical solution is rare, the chosen treatments are often of palliative care. Prognosis was often poor, death occurred within 2 years since the discovery of foot metastasis in about 50% of cases.

Posterior thoracolumbar fusion in a patient with Kleefstra Syndrome related scoliosis: The first case reported.

Spine deformities could be considered a possible manifestation of the childhood hypotonia, typical feature of Kleefstra Syndrome (KS). There is a paucity of literature describing posterior spinal fusion in the Kleefstra syndrome patient. For patients who develop severe scoliotic curve, bracing is often ineffective and surgery is recommended. We report the first corrective surgery for scoliosis in one patient with KS. We describe a case of 13-year-old female with severe developmental scoliosis in KS. Preoperative examination showed a thoracolumbar scoliosis with left convex thoracic curve (T3-T9, 97°) and right convex thoracolumbar curve (T9-L3, 88°). Posterior correction, pedicle screw fixation and bone graft fusion T3-L5 was performed. Postoperatively, the thoracic curve was corrected to 33° while the thoracolumbar one to 26° and better standing posture was obtained. Six month follow-up images showed no loosening of the hardware. The patient is still in our follow-up program. Scoliosis seems to be a rare evenience of the severe hypotonia of patients with KS. We report the first case of scoliosis in KS treated successfully with surgery. Corrective surgery for spinal deformity, such as scoliosis, could help in posture and improve the quality of life especially in complicated patients such as syndromic ones.

Single-level Bryan cervical disc arthroplasty: evaluation of radiological and clinical outcomes after 18 years of follow-up.

PURPOSE: Many studies reported mid-term clinical and radiological outcomes after cervical disc arthroplasty. Only a few studies analysed the long-term results. The aim of the study was to evaluate the clinical and radiological outcomes in patients treated with single-level Bryan cervical disc arthroplasty after 18 years of follow-up. METHODS: This study was a retrospective analysis of institutional databases concerning patients treated with Bryan cervical disc arthroplasty. SF36 PCS, NDI and VAS were used to evaluate clinical and functional outcomes. Standard, flexion-extension X-ray and MRI were used to evaluate the radiological results. RESULTS: Fifty-seven patients treated with single-level Bryan cervical disc arthroplasty completed the 18-year follow-up. At the final follow-up, a residual movement was observed in 32 patients (56%). The treated level range of motion decreased from 10.1° pre-operatively to 6.1° at the last follow-up (p = 0.0021). The range of motion of the adjacent segments and of the cervical spine had no significant change. Disc degeneration of the adjacent segment after 18-year follow-up was observed in 77.1% of treated patients. CONCLUSION: The clinical and radiographic outcomes 18 years after surgery are acceptable. The treated level range of motion reduction and the adjacent segment degeneration seems not to affect the clinical results after 18 years of follow-up.