Primary hyperparathyroidism (PHPT) typically results from parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients. We present a case of a 29-year-old Indian female who presented with a femur fracture and mandibular OFC 20 days after delivery. The painless mandibular swelling gradually progressed from the third month of pregnancy. The biochemical and radiological investigations were indicative of PHPT-associated OFC. After the excision of the three-and-a-half parathyroid gland, histology revealed benign cystic adenomas and hyperplasia. Based on the associated clinical manifestations, OFC was suspected. Clinical exome sequencing revealed CDC73(+) c.687_688dupAG heterogenous pathogenic autosomal dominant mutation. Undiagnosed PHPT in mothers during pregnancy led to neonatal hypocalcaemic convulsions. With adequate supplementation, the infant recovered completely from transient congenital hypoparathyroidism. OFC is an important diagnosis to consider in a young patient with swelling of the neck and jaw. Simultaneous high levels of PTH and serum calcium should raise a high index of suspicion for OFC. Parathyroidectomy helps manage the biochemical abnormalities and causes regression of the jaw mass that causes facial disfigurement and attenuates the declining BMD. Children born to mothers with PHPT should be evaluated for neonatal hypoparathyroidism and supplemented appropriately to reduce the risk of hypocalcaemic manifestations that can be life-threatening. If the CDC73 mutation is detected, the offspring should be monitored for signs of PHPT due to the high probability of inheritance and parathyroid malignancy.
Osteitis Fibrosa Cystica ; Hyperparathyroidism, Primary ; Fracture, Pathological ; Fractures, Spontaneous

OBJECTIVE: To analyze the results of percutaneous core needle biopsy for bone tumors in upper limbs with pathologic fracture and to find the possible factors that could impact the results. METHODS: The including criteria for this study was the patients who had received percutaneous core needle biopsy and definitive surgery, whose tumor was located at upper limb with pathologic fracture. From January 2015 to December 2019, seventy-seven patients were enrolled. There were 55 males and 22 females. The median age was 27 years old (range:5 to 88 years old). The tumor located at humerus in 67 cases, radius in 8 cases and ulna in 2 cases. If the pathologic diagnosis of core needle biopsy was the same with the definitive surgery, it was defined as "correct". If the pathologic diagnosis of biopsy for benign or malignant was right but the exact diagnostic name was not the same with definitive surgery, it was defined as "supportive". If the pathologic diagnosis of biopsy for benign or malignant was not correct, it was defined as "wrong". We retrospectively analyzed the accuracy and impact factors for core needle biopsy. RESULTS: The result was "correct" in 63 cases(81.8%), "supportive" in 14 cases(18.2%), and "wrong" in 0 cases. We analyzed the gender, age, location, fracture displacement, the destroyed type for bone tumor, soft tissue mass, fluid area in the tumor as the factors. The results showed the rate for "correct" was significantly higher when the tumor had soft tissue mass ( CONCLUSION The accuracy of percutaneous core needle biopsy for upper limb bone tumor with pathologic is high and acceptable. The biopsy chosen the soft tissue mass area can increase the accuracy.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biopsy, Large-Core Needle ; Bone Neoplasms ; Child ; Child, Preschool ; Female ; Fractures, Spontaneous ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Soft Tissue Neoplasms ; Upper Extremity ; Young Adult

OBJECTIVE: To investigate the perioperative clinical characteristics of patients with pathological fracture of proximal femur. METHODS: A retrospective study reviewed 28 patients who received proximal resection and tumor hemiarthroplasty for malignant proximal femoral tumor in Peking University First Hospital from January 2011 to February 2017. According to the fracture, the patients were divided into two groups: pathological fracture group and non-pathological fracture group. We investigated the clinical characteristics during perioperative period between the two groups. RESULTS: Of the 28 patients, 14 (50.0%) patients suffered pathological fracture, and there was no significant difference between the two groups in the patient's age, gender, limb involvement, and tumor source (P>0.05). There was no significant difference between the two groups in hemoglobin (HGB), hematocrit (Hct), and lower extremity thrombosis. The albumin (ALB) of pathological fracture group were lower in contrast to non-pathological fracture group (P=0.031). There was no significant difference between the two groups in decline of HGB and Hct on postoperation day 1, operative time, bleeding during operation, time for walking with help of ambulation aid postoperative, and postoperative hospital stay (P>0.05). On post-operation day 7, HGB (P=0.025) and Hct (P=0.039) of pathological fracture group were significant lower in contrast to non-pathological fracture group. Whereas, the total blood loss calculated by Gross equation of pathological fracture group was significant higher in contrast to non-pathological fracture group [(2 066.3±419.8) mL vs. (786.0±152.6) mL, P=0.039]. The patient needed blood transfusion during operation (7/14 vs. 1/14, P=0.033) and postoperative (8/14 vs. 1/14, P=0.013) in pathological fracture group were more than in non-pathological fracture group. At last, Barthel daily life ability score (P=0.009) of pathological fracture group was lower in contrast to non-pathological fracture group, and visual analogue scale (VAS) score was higher (P<0.001). They were almost equal when the patients were discharged (P>0.05). CONCLUSION Patients with pathological fracture had lower ALB during perioperative period. Pathological fracture had no effect on operative time, bleeding during operation and function outcomes. However, the patients with pathological fracture had more total blood loss and lower HGB, Hct in contrast to the patients without pathological fracture. Blood transfusion was more needed in pathological fracture patients.
Femur ; Fractures, Spontaneous ; Hip Fractures ; Humans ; Operative Time ; Retrospective Studies

STUDY DESIGN: Single-center, retrospective cohort study. PURPOSE: We aimed to evaluate and compare the clinical outcomes in patients who underwent palliative posterior instrumentation (PPI) versus those who underwent corpectomy with cage reconstruction (CCR) for thoracolumbar pathological fracture. OVERVIEW OF LITERATURE: The requirement for anterior support after corpectomy has been emphasized in the treatment of pathological fractures of the vertebrae. However, for patients with a relatively short life expectancy, anterior reconstruction may not be required and posterior instrumentation alone may provide adequate stabilization. METHODS: A total of 43 patients with metastases of the thoracolumbar spine underwent surgery in the department of orthopaedic and traumatology of Istanbul University Faculty of Medicine from 2003 to 2016. Surgical outcomes were assessed on the basis of survival status, pre- and postoperative pain, complication rate, and operation time. RESULTS: PPI was performed for 22 patients and CCR was performed for 21 patients. In the PPI group, the follow-up period of the five surviving patients was 32 months. The remaining 17 patients died with a mean survival duration of 12.3 months postoperatively. In the CCR group, the five surviving patients were followed up for an average of 14.1 months. The remaining 16 patients died with a mean survival duration of 18.7 months postoperatively. No statistically significant difference (p=0.812) was noted in the survival duration. The Visual Analog Scale scores of the patients were significantly reduced after both procedures, with no significant difference noted on the basis of the type of surgical intervention (p>0.05). The complication rate in the CCR group (33.3%) was higher compared with that in the PPI group (22.7%); however, this difference was not noted to be statistically significant (p=0.379). The average operation time in the PPI group (149 minutes) was significantly shorter (p=0.04) than that in the CCR group (192 minutes). CONCLUSIONS: The PPI technique can decompress the tumor for functional improvement and can stabilize the spinal structure to provide pain relief.
Cohort Studies ; Follow-Up Studies ; Fractures, Spontaneous ; Humans ; Life Expectancy ; Neoplasm Metastasis ; Pain, Postoperative ; Palliative Care ; Retrospective Studies ; Spine ; Traumatology ; Visual Analog Scale

STUDY DESIGN: Retrospective case series observational study. PURPOSE: Cancer patients are often aged and are further weakened by their illness and treatments. Our goal was to evaluate the efficiency and safety of using minimally invasive techniques to operate on spinal fractures in these patients. OVERVIEW OF LITERATURE: Vertebroplasty is now considered to be a safe technique that allows a significant reduction of the pain induced by a spinal tumoral fracture. However, few papers describe the kyphosis reduction that can be achieved by combining percutaneous fixation and anterior vertebral reconstruction. METHODS: We studied 35 patients seen between December 2013 and October 2016 who had at least one pathological spinal fracture and multiple vertebral metastases. The population’s mean age was 67 years, and no patients included had preoperative neurological deficits. The patients underwent a minimally invasive surgery consisting of a percutaneous pedicular fixation with cement-enhanced screws and anterior reconstruction comprising kyphoplasty when possible or corpectomy in cases of excessive damage to the vertebral body. Back pain, traumatic local and regional kyphosis, and Beck’s Index were collected pre- and postoperatively, and at 3-, 6-, and 12-month follow-ups. RESULTS: Mean follow-up time was 13.4 months. Significant reductions in back pain (p<0.001) and local (p<0.001) and regional kyphosis (p=0.006) were found at the 6-month follow-up (alpha risk level <0.05). Beck’s Index was also significantly increased, indicating good restoration of the anterior vertebral height. By the final follow-up, no screws had fallen/pulled out. There were no infectious or neurological complications. CONCLUSIONS: Percutaneous cement-enhanced fixation for pathological fractures has proven a safe and efficient technique in our experience, enabling weak patients to rapidly become ambulatory again without complications. Further follow-up of the patients is necessary to assess the long-term effects of this technique and the continued quality of life of our patients.
Back Pain ; Cementoplasty ; Follow-Up Studies ; Fractures, Spontaneous ; Humans ; Kyphoplasty ; Kyphosis ; Minimally Invasive Surgical Procedures ; Neoplasm Metastasis ; Observational Study ; Quality of Life ; Retrospective Studies ; Spinal Fractures ; Vertebroplasty

A 48-year-old man visited the emergency room with right hip pain that started abruptly while walking out of the bathroom. Computed tomography showed an intraosseous mass in the femoral neck. The patient had a 15-year history of gout and had numerous bilateral tophi in his hands, feet, knees, and elbows. After operation, we diagnosed a pathological fracture due to intraosseous tophi. Patients with hip pain who have many subcutaneous tophi and long-standing gout should be diagnosed carefully. Peri-hip joint pain caused by gout is uncommon, however, if a patient complains of pain, a simple X-ray may be required. If intraosseous tophi are present, appropriate treatment (e.g., strict hyperuricemia control with or without prophylactic internal fixation), may be required before fracture occurs.
Arthralgia ; Elbow ; Emergency Service, Hospital ; Femoral Neck Fractures ; Femur Neck ; Foot ; Fractures, Spontaneous ; Gout ; Hand ; Hip ; Humans ; Hyperuricemia ; Knee ; Middle Aged ; Walking

PURPOSE: Patients with chronic kidney disease (CKD) have a higher risk of complications when undergoing hip hemiarthroplasty. The primary aim is to test the null hypothesis that there is no difference between cemented and uncemented stem loosening rates in patients with CKD who receive a hip hemiarthroplasty for femoral neck fractures. The secondary aim is to determine the effect of increasing severity of renal disease on the rate of stem loosening in this CKD patient subset. MATERIALS AND METHODS: A retrospective study of all patients with CKD who underwent a hip hemiarthroplasty for a traumatic femoral-neck fracture between 2003 and 2013 was performed. Patients with a minimum of two-year follow-up were included; those with pathological fractures or loosening due to infection were excluded. The outcome measure was radiographic aseptic loosening of the stem, defined as progressive radiolucency of more than 2 mm, progressive subsidence or migration of the implant. RESULTS: One-hundred and nineteen cases were included in this study. Loosening occurred in 11 cases (9.24%). A comparison between cemented and uncemented groups revealed no difference in the rate of loosening (P=0.079). In all cases, worsening renal function did not increase the rate of loosening (P=0.311). The rate of loosening did not increase with worsening renal function in either the cemented (P=0.678) or uncemented groups (P=0.307). CONCLUSION: There is no difference in the rate of loosening between cemented and uncemented hemiarthroplasty for femoral neck fractures in the elderly with CKD. The rate of loosening did not increase with worsening renal function. All patients with renal impairment, not just those with end-stage renal failure, warrant close follow-up as early loosening can occur throughout the entire spectrum of renal disease.
Aged ; Femoral Neck Fractures ; Follow-Up Studies ; Fractures, Spontaneous ; Hemiarthroplasty ; Hip Prosthesis ; Hip ; Humans ; Kidney Failure, Chronic ; Outcome Assessment (Health Care) ; Renal Insufficiency ; Renal Insufficiency, Chronic ; Retrospective Studies

OBJECTIVE: Although surgical intervention, such as percutaneous vertebroplasty (PVP), is the standard treatment for osteoporotic vertebral compression fractures (OVCFs), its effectiveness and safety are unclear. Therefore, this study compared the safety and efficacy of conservative treatment with that of PVP for acute OVCFs.METHODS: Patients with single-level OVCFs who were treated conservatively with a transdermal fentanyl patch (TFP) or with PVP between March 2013 and December 2017 and followed-up for more than 1 year were retrospectively evaluated. Patients with pathologic fractures, fractures of more than two columns, or a history of PVP were excluded. Clinical outcomes (visual analog scale [VAS] scores) and radiographic factors were evaluated, including changes in the compression rate of the corresponding vertebral body at onset and after 12 months, sagittal Cobb angle at onset and after 6 and 12 months, and the incidence of adjacent compression fractures.RESULTS: Of the 131 patients evaluated, 75 were treated conservatively using TFPs and 56 underwent PVP. We divided the patients into TFP and PVP groups. Their baseline characteristics (including sex, level of fracture, and bone mineral density T-scores) were similar, but the TFP group was significantly younger. The overall VAS score for pain showed a greater decrease during the first month (1 week after PVP) in the PVP group but remained similar in the two groups thereafter. The compression rate after 12 months increased in the TFP group but decreased in the PVP group. Five patients in the PVP group, but none in the TFP group, experienced adjacent compression fractures within 12 months.CONCLUSION: We compared clinical and radiological outcomes between the TFP and PVP groups. The immediate pain reduction effect was superior in the PVP group, but the final clinical outcome was similar. Although the PVP group had a better-preserved compression rate than the TFP group for 1 year, the development of adjacent fractures was significantly higher. Although TFPs seemed to be beneficial in reducing the failure rate of conservative treatment, the possibility of side effects (22.6%, 17 out of 75 patients, in this study) should be carefully monitored.
Bone Density ; Fentanyl ; Fractures, Compression ; Fractures, Spontaneous ; Humans ; Incidence ; Retrospective Studies ; Vertebroplasty

OBJECTIVE: Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has not been studied. The purpose of this study is to evaluate bone mineral density (BMD) and identify correlations between clinical factors and frequency of vertebral fractures in patients with MJD. METHODS: Clinical data, lumbar X-rays and BMD data were obtained in 30 patients with MJD. RESULTS: Ten patients (33.3%) showed low BMD in at least one of the sites studied based on Z-scores. The Z-score correlated directly with body mass index, and the femoral neck Z-score was inversely correlated with cytosine-adenine-guanine (CAG) expansion. There was no correlation between BMD and other clinical factors. Forty-three percent of the patients reported previous pathologic fractures. Five patients (16.7%) had at least one fracture detected by lumbar X-ray. CONCLUSION: Low BMD and fractures are frequent among MJD patients, and careful management of BMD may be beneficial for these patients.
Body Mass Index ; Bone Density ; Femur Neck ; Fractures, Spontaneous ; Humans ; Machado-Joseph Disease ; Osteoporosis ; Spinocerebellar Ataxias

PURPOSE: A dedifferentiated chondrosarcoma is a rare lethal tumor characterized by a low grade chondrosarcoma juxtaposed with a high grade dedifferentiated sarcoma, such as osteosarcoma, fibrosarcoma. The aim of our study was to document the clinical manifestation and oncologic outcomes of a dedifferentiated chondrosarcoma. MATERIALS AND METHODS: This study identified 11 patients who were diagnosed and treated for dedifferentiated chondrosarcoma between January 2007 and December 2016. The identified cohort was then reviewed regarding age, sex, symptom onset, tumor location, magnetic resonance imagings (MRIs), surgical margin, and pathologic diagnosis. The time to local recurrence and/or metastasis, follow-up duration, and the patients' final status were analyzed. RESULTS: The patients were comprised of 7 males and 4 females with a mean age of 54 years (range, 33–80 years). The location of the tumor was in the femur in 6 cases, pelvis in 4 cases, and metatarsal in 1 case. The average tumor diameter was 12.7 cm (range, 6.0–26.1 cm). At the time of diagnosis, 2 patients showed pathologic fracture; 1 patient was Enecking stage IIA, 9 patients were stage IIB, and 1 patient was stage III. Eight patients were classified as a primary dedifferentiated chondrosarcoma and 3 patients were secondary. One of the primary lesions was misinterpreted initially as a low grade chondroid lesion by MRI and underwent curettage. Local recurrence occurred in 8 cases and distant metastasis occurred in 10 cases with a mean duration of 8 months (range, 2–23 months) and 7 months (range, 1–32 months), respectively. The three-year overall survival of patients with dedifferentiated chondrosarcoma was 18%, and 10 patients died due to disease progression. CONCLUSION: Dedifferentiated chondrosarcoma developed lung metastases in the early period of the clinical courses and the prognosis was dismal.
Chondrosarcoma ; Cohort Studies ; Curettage ; Diagnosis ; Disease Progression ; Female ; Femur ; Fibrosarcoma ; Follow-Up Studies ; Fractures, Spontaneous ; Humans ; Lung ; Magnetic Resonance Imaging ; Male ; Metatarsal Bones ; Neoplasm Metastasis ; Osteosarcoma ; Pathology ; Pelvis ; Prognosis ; Recurrence ; Sarcoma