Humans ; Spinal Fractures/etiology* ; Fractures, Compression/etiology* ; Osteoporotic Fractures/complications* ; Vertebroplasty/adverse effects* ; Bone Diseases, Metabolic/complications* ; Punctures/adverse effects* ; Treatment Outcome ; Bone Cements ; Retrospective Studies

Humans ; Spinal Cord Injuries/complications* ; Paralysis/etiology* ; Nervous System Diseases ; Brain

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.
Humans ; Abnormalities, Multiple ; Retrospective Studies ; Intellectual Disability/genetics* ; Bone Diseases, Developmental/complications* ; Tooth Abnormalities/complications* ; Facies ; Muscular Dystrophy, Duchenne/complications* ; Muscular Atrophy, Spinal/complications* ; Carrier Proteins ; Nuclear Proteins

OBJECTIVE: To explore the relationship between spinous process deviation and lumbar disc herniation in young patients. METHODS: From March 2015 to January 2022, 30 treated young (under the age of 30) patients with lumbar disc herniation were included as the young group. In addition 30 middle-aged patients (quinquagenarian group) with lumbar disc herniation and 30 patients with non-degenerative spinal diseases (young non-degenerative group) were selected as control groups. The angle of the spinous process deviation was measured on CT and statistically analyzed by various groups. All the data were measured twice and the average value was taken and recorded. RESULTS: The average angle of spinous process deviation in the degenerative lumbar vertebra of young patients were (3.89±3.77) degrees, similar to the (3.72±2.98) degrees of quinquagenarian patients(P=0.851). The average angle of s spinous process deviation young non-degenerative group were (2.20±2.28) degrees, significantly less than young group(P=0.040). The spinous process deviation angle of the superior vertebral of the degenerative lumbar in the young group was (4.10±3.44) degrees, which similar to the (3.47±2.87) degrees in the quinquagenarian group (P=0.447). A total of 19 young patients had the opposite deviation direction of the spinous process of the degenerative lumbar vertebra and upper vertebra, while only 7 quinquagenarian patients had this condition(P=0.02). The type of lumbar disc herniation in young patients had no significant relationship with the direction of spinous process deflection of the degenerative or upper lumbar vertebra (P>0.05). CONCLUSION Spinous process deviation is a risk factor of young lumbar disc herniation patients. If the deviation directions of adjacent lumbar spinous processes are opposite, it will increase the incidence of lumbar disc herniation in young patients. There was no significant correlation between the type of disc herniation and the deviation direction of the spinous process of the degenerative or upper lumbar vertebra. People with such anatomical variation can strengthen the stability of spine and prevent lumbar disc herniation through reasonable exercise.
Middle Aged ; Humans ; Intervertebral Disc Displacement/complications* ; Vertebral Body ; Spinal Diseases ; Spinal Fusion/adverse effects* ; Lumbar Vertebrae/diagnostic imaging* ; Intervertebral Disc Degeneration/etiology*

With the onset of a metabolic syndrome epidemic and the increasing life expectancy, erectile dysfunction (ED) has become a more common condition. As incidence and prevalence increase, the medical field is focused on providing more appropriate therapies. It is common knowledge that ED is a chronic condition that is also associated with a myriad of other disorders. Conditions such as aging, diabetes mellitus, hypertension, obesity, prostatic hypertrophy, and prostate cancer, among others, have a direct implication on the onset and progression of ED. Characterization and recognition of risk factors may help clinicians recognize and properly treat patients suffering from ED. One of the most reliable treatments for ED is penile prosthetic surgery. Since the introduction of the penile prosthesis (PP) in the early seventies, this surgical procedure has improved the lives of thousands of men, with reliable and satisfactory results. The aim of this review article is to characterize the epidemiology of men undergoing penile prosthetic surgery, with a discussion about the most common conditions involved in the development of ED, and that ultimately drive patients into electing to undergo PP placement.
Diabetes Complications/surgery* ; Diabetes Mellitus/epidemiology* ; Erectile Dysfunction/surgery* ; Humans ; Hypertension ; Impotence, Vasculogenic/surgery* ; Male ; Pelvic Bones/injuries* ; Penile Implantation/statistics & numerical data* ; Penile Induration/surgery* ; Penile Prosthesis ; Penis/injuries* ; Prostatectomy/adverse effects* ; Prostatic Neoplasms/surgery* ; Radiation Injuries/surgery* ; Radiotherapy/adverse effects* ; Reoperation ; Spinal Cord Injuries/epidemiology* ; Vascular Diseases/epidemiology* ; Wounds and Injuries/epidemiology*

BACKGROUND: The endovascular approach to aortic disease treatment has been increasingly utilized in the past 2 decades. This study aimed to determine the long-term results of using the Seal thoracic stent graft. METHODS: We retrospectively reviewed the outcomes of patients who underwent thoracic endovascular aortic repair or a hybrid procedure using the Seal thoracic stent graft (S&G Biotech, Seongnam, Korea) from January 2008 to July 2018 at a single institution. We investigated in-hospital mortality and the incidence of postoperative complications. We also investigated the mid-term survival rate and incidence of aorta-related complications. RESULTS: Among 72 patients with stent grafts, 15 patients underwent the hybrid procedure and 21 underwent emergency surgery. The mean follow-up period was 37.86±30.73 months (range, 0–124 months). Five patients (6.9%) died within 30 days. Two patients developed cerebrovascular accidents. Spinal cord injury occurred in 2 patients. Postoperative renal failure, postoperative extracorporeal membrane oxygenation support, and pneumonia were reported in 3, 1, and 6 patients, respectively. Stent-related aortic complications were observed in 5 patients (6.8%). The 1- and 5-year survival and freedom from stent-induced aortic event rates were 81.5% and 58.7%, and 97.0% and 89.1%, respectively. CONCLUSION: The use of the Seal thoracic stent graft yielded good mid-term results. Further studies are needed to examine the long-term outcomes of this device.
Aorta, Thoracic ; Aortic Diseases ; Aortic Rupture ; Blood Vessel Prosthesis ; Emergencies ; Endoleak ; Extracorporeal Membrane Oxygenation ; Follow-Up Studies ; Freedom ; Gyeonggi-do ; Hospital Mortality ; Humans ; Incidence ; Pneumonia ; Postoperative Complications ; Renal Insufficiency ; Retrospective Studies ; Spinal Cord Injuries ; Stents ; Stroke ; Survival Rate

Candidiasis ; diagnosis ; Cervical Vertebrae ; surgery ; Esophageal Diseases ; diagnosis ; microbiology ; Esophagus ; microbiology ; Humans ; Postoperative Complications ; microbiology ; Spinal Fusion ; adverse effects

STUDY DESIGN: Although the frequency of the oblique lumbar interbody fusion (OLIF) procedure has increased in recent years, reports on its complications remain rare. We report 2 cases of vertebral fracture after OLIF. OBJECTIVES: We aimed to report 2 cases of coronal vertebral fracture after an OLIF procedure in non-osteoporotic patients without significant trauma, and to review the complications of OLIF. SUMMARY OF LITERATURE REVIEW: There is a growing but limited literature describing early postoperative complications after OLIF. MATERIALS AND METHODS: Patient 1 was an obese woman who underwent 2-level OLIF with posterior instrumentation procedures and subsequently experienced 2-level coronal plane fractures. Patient 2 was an elderly man who underwent 3-level OLIF without posterior instrumentation and experienced 1 coronal vertebral fracture. We report vertebral body fracture as a complication of OLIF through these 2 cases. RESULTS: Patient 1 was treated nonsurgically after the fractures. The fractures healed uneventfully. However, patient 2 underwent posterior instrumented fusion and had a solid bridging bone above and below the fracture. Factors potentially contributing to these fractures are discussed. CONCLUSIONS: OLIF is an effective procedure for several spinal diseases. However, fracture can occur after OLIF even in non-osteoporotic patients. Factors such as intraoperative end-plate breach, subsidence, cage rolling, and inadequate posterior instrumentation could contribute to the development of fractures after oblique interbody fusion.
Aged ; Female ; Humans ; Postoperative Complications ; Spinal Diseases

OBJECTIVE: To investigate the treatment strategy for subcutaneous fistula secondary to cerebrospinal fluid leakage (CSFL) in thoracic spinal stenosis (TSS) cases. METHODS: In the study, 186 CSFL cases diagnosed with TSS and operated in general spine group of Department of Orthopedics, Peking University Third Hospital from January 2005 to December 2014 were retrospectively reviewed, of which eleven had subcutaneous fistula secondary to CSFL and were regularly followed up. Treatment strategy for subcutaneous fistula depended on the severity of CSFL and the recovery rate of thoracic myelopathy. Japanese Orthopedic Association (JOA) score was utilized to evaluate the neurologic status of these patients preoperatively and postoperatively. Statistical analysis was conducted between preoperative and postoperative JOA scores. RESULTS: All of the 11 patients were regularly followed up for at least 24 months. Six of them had ossification of the posterior longitudinal ligament (OPLL) combined with ossification of ligamentum flavum (OLF), all of them undertook "cave-in" 360° circumferential decompression of the spinal cord with instrumentation. Five cases had OLF only, and received En bloc resection of lamina and OLF and fixation. The follow-up period ranged from 30 months to 131 months, and averaged at (85±34) months. Preoperative symptoms lasted from 3 months to 8 years, and the median was 18 months. Drainages were placed for 2-6 days, and averaged at (4.2±1.1) days. Ten cases appeared with fever during the perioperative period, the maximum body temperature was (37.3-39.7) °C. Prolonged antibiotics were applied in two cases with high fever. Ten cases were treated with conservative methods, CSFL were completely absorbed during the follow-up time, of which compressive dressing was utilized in 8 cases, and punctures combined with compressive dressing were used in 2 cases. For only 1 case, conservative therapy failed and reoperation was required because of neurological deterioration arising from CSF pseudocyst. For these 11 cases, preoperative JOA score arose from (3.8±1.6) preoperatively to (8.9±1.2) at the end of the final follow-up, the recovery rate was 70.8%. No infection of wound or central nerve system were noticed, and neither were unhealing wound. CONCLUSION Most TSS cases with subcutaneous fistula secondary to CSFL could be cured by conservative methods, and reoperation is required only if myelopathy caused by cerebrospinal fluid pseudocyst is identified.
Cerebrospinal Fluid Leak/complications* ; Decompression, Surgical ; Fistula/etiology* ; Humans ; Retrospective Studies ; Spinal Cord Diseases ; Spinal Stenosis/complications* ; Thoracic Vertebrae ; Treatment Outcome

OBJECTIVE: Laminoplasty is an effective surgical method for treating cervical degenerative disease. However, postoperative complications such as kyphosis, restriction of neck motion, and instability are often reported. Despite sufficient preoperative lordosis, this procedure often aggravates the lordotic curve of the cervical spine and straightens cervical alignment. Hence, it is important to examine preoperative risk factors associated with postoperative kyphotic alignment changes. Our study aimed to investigate preoperative radiologic parameters associated with kyphotic deformity post laminoplasty. METHODS: We retrospectively reviewed the medical records of 49 patients who underwent open door laminoplasty for cervical spondylotic myelopathy (CSM) or ossification of the posterior longitudinal ligament (OPLL) at Pusan National University Yangsan Hospital between January 2011 and December 2015. Inclusion criteria were as follows: 1) preoperative diagnosis of OPLL or CSM, 2) no previous history of cervical spinal surgery, cervical trauma, tumor, or infection, 3) minimum of one-year follow-up post laminoplasty with proper radiologic examinations performed in outpatient clinics, and 4) cases showing C7 and T1 vertebral body in the preoperative cervical sagittal plane. The radiologic parameters examined included C2–C7 Cobb angles, T1 slope, C2–C7 sagittal vertical axis (SVA), range of motion (ROM) from C2–C7, segmental instability, and T2 signal change observed on magnetic resonance imaging (MRI). Clinical factors examined included preoperative modified Japanese Orthopedic Association scores, disease classification, duration of symptoms, and the range of operation levels. RESULTS: Mean preoperative sagittal alignment was 13.01° lordotic; 6.94° lordotic postoperatively. Percentage of postoperative kyphosis was 80%. Patients were subdivided into two groups according to postoperative Cobb angle change; a control group (n=22) and kyphotic group (n=27). The kyphotic group consisted of patients with more than 5° kyphotic angle change postoperatively. There were no differences in age, sex, C2–C7 Cobb angle, T1 slope, C2–C7 SVA, ROM from C2–C7, segmental instability, or T2 signal change. Multiple regression analysis revealed T1 slope had a strong relationship with postoperative cervical kyphosis. Likewise, correlation analysis revealed there was a statistical significance between T1 slope and postoperative Cobb angle change (p=0.035), and that there was a statistically significant relationship between T1 slope and C2–C7 SVA (p=0.001). Patients with higher preoperative T1 slope demonstrated loss of lordotic curvature postoperatively. CONCLUSION: Laminoplasty has a high probability of aggravating sagittal balance of the cervical spine. T1 slope is a good predictor of postoperative kyphotic changes of the cervical spine. Similarly, T1 slope is strongly correlated with C2–C7 SVA.
Ambulatory Care Facilities ; Animals ; Asian Continental Ancestry Group ; Busan ; Cervical Vertebrae ; Classification ; Congenital Abnormalities ; Diagnosis ; Female ; Follow-Up Studies ; Gyeongsangnam-do ; Humans ; Kyphosis ; Laminoplasty* ; Longitudinal Ligaments ; Lordosis ; Magnetic Resonance Imaging ; Medical Records ; Methods ; Neck ; Orthopedics ; Postoperative Complications ; Range of Motion, Articular ; Retrospective Studies ; Risk Factors ; Spinal Cord Diseases ; Spine* ; Spondylosis