Gene mutation landscape of a rare patient with acute megakaryoblastic leukemia after treatment of intracranial germ cell tumor.

Introduction: It was first reported that germ cell tumor patients suffer from hematologic malignancies 37 years ago. Since then, the number of relevant reports has increased each year, with most cases being mediastinal germ cell tumor. Theories have been proposed to explain this phenomenon, including a shared origin of progenitor cells, the effects of treatment, and independent development. However, up to now, no widely accepted explanation exists. The case with acute megakaryoblastic leukemia and intracranial germ cell tumor has never been reported before and the association is far less known. Methods: We used whole exome sequencing and gene mutation analysis to study the relationship between intracranial germ cell tumor and acute megakaryoblastic leukemia of our patient. Results: We report a patient who developed acute megakaryoblastic leukemia after treatment for an intracranial germ cell tumor. Through whole exome sequencing and gene mutation analysis, we identified that both tumors shared the same mutation genes and mutation sites, suggesting they originated from the same progenitor cells and differentiated in the later stage. Discussion: Our findings provide the first evidence supporting the theory that acute megakaryoblastic leukemia and intracranial germ cell tumor has the same progenitor cells.

Neural stem cell transplantation for the treatment of primary torsion dystonia: A case report.

Primary torsion dystonia (PTD) occurs due to a genetic mutation and often advances gradually. Currently, there is no therapy available that is able to inhibit progression. Neural stem cells (NSCs) are being investigated as potential therapies for neurodegenerative diseases, such as stroke and trauma. The present study evaluated the clinical effectiveness of NSC transplantation in an 18-year-old male patient with PTD, to assess the ability of this therapy to inhibit PTD progression. Genetic testing of the patient revealed a mutation in the torsion dystonia-1 (DYT1) gene (907-909 delGAG). NSCs were bilaterally implanted in the globus pallidus of the patient through stereotactic surgery. Prior to surgery, the patient's Burke-Fahn-Marsden dystonia movement score (BFMDMS) was 21, which progressively decreased after surgery to 18, 17, 15 and 13 at 1, 2, 3 and 4 postoperative years, respectively. BFMDMS was improved by 38.1% over the 4 postoperative years. Although computed tomography and magnetic resonance imaging examinations showed no significant changes prior to and following surgery, postoperative brain positron emission tomography scans revealed increased glucose metabolism in the transplanted region. The clinical efficacy of NSC transplantation in this patient suggests its potential for the treatment of DYT1-positive patients with PTD.

Clinical application of a vascular interventional robot in cerebral angiography.

BACKGROUND: Cardiovascular and cerebrovascular diseases have become the leading cause of death for people, and endovascular surgery has become the main therapeutic method. Robot technology would overcome some limitations of conventional surgery, and has good prospects. METHODS: A total of 15 patients received cerebral angiography assisted by a vascular interventional robot following preoperative examination, with approval from the hospital ethics committee and informed consent by the patients' families. RESULTS: Robot-assisted angiography was performed quickly and smoothly without surgical complications. The remote positioning accuracy was 1.05 ± 0.28 mm. The time staff were exposed to the digital subtraction angiography (DSA) machine was 0 min. The entire experimental process was mechanized and automated. CONCLUSION: This system achieved the preliminary purposes, including a reduction in radiation for the surgeons, facilitation of the application of interventional procedures, a decrease in operation time, and an improvement in operation quality.

[Experimental study of angiography using vascular interventional robot-2(VIR-2)].

OBJECTIVE: To verify the feasibility and safety of new vascular interventional robot system used in vascular interventional procedures. METHODS: Vascular interventional robot type-2 (VIR-2) included master-slave parts of body propulsion system, image navigation systems and force feedback system, the catheter movement could achieve under automatic control and navigation, force feedback was integrated real-time, followed by in vitro pre-test in vascular model and cerebral angiography in dog. Surgeon controlled vascular interventional robot remotely, the catheter was inserted into the intended target, the catheter positioning error and the operation time would be evaluated. RESULTS: In vitro pre-test and animal experiment went well; the catheter can enter any branch of vascular. Catheter positioning error was less than 1 mm. The angiography operation in animal was carried out smoothly without complication; the success rate of the operation was 100% and the entire experiment took 26 and 30 minutes, efficiency was slightly improved compared with the VIR-1, and the time what staff exposed to the DSA machine was 0 minute. The resistance of force sensor can be displayed to the operator to provide a security guarantee for the operation. No surgical complications. CONCLUSIONS: VIR-2 is safe and feasible, and can achieve the catheter remote operation and angiography; the master-slave system meets the characteristics of traditional procedure. The three-dimensional image can guide the operation more smoothly; force feedback device provides remote real-time haptic information to provide security for the operation.

[Magnetic resonance spectroscopy-guided stereotactic biopsy for brain lesion].

OBJECTIVE: To study the clinical value of magnetic resonance spectroscopy (MRS) image in stereotactic biopsy for brain lesion. METHODS: From April 2008 to April 2010, 126 cases (72 male and 54 female, aged from 10 to 82 years, mean 45 years) of brain lesion which were difficult to diagnose were divided into two groups by random number table, 62 cases were executed for MRI-guided frameless stereotactic biopsy (MRI group), 64 cases were executed for MRI and MRS-guided frameless stereotactic biopsy (MRS group). Operation used MRI and Three-dimensional MRS image to locate, and used frameless CAS-R-2 robots to carry out the positioning operating. RESULTS: No surgery-related deaths and infections. Pathological diagnosis was 106 cases of brain tumors, 6 cases of inflammatory disease, 4 cases of tumor-like demyelinating disease and multiple sclerosis, 3 cases of neurodegenerative disease, 7 cases failed to obtain positive pathological diagnosis. The total rate of positive diagnosis was 94.4%, the positive rate in MRS-guided stereotactic biopsy group was 98.4% (63/64), the positive rate of conventional MRI-guided biopsy group was 90.3% (56/62), and there was statistically significant difference between the two groups (χ(2) = 3.92, P = 0.047). Four cases presented with postoperative complications, the complication rate was 3.2% (4/126); the complications were cerebral hemorrhage associated with aphasia, epilepsy, subcutaneous hematoma, gastrointestinal bleeding, which were improved after treatment. CONCLUSIONS: MRS-guided stereotactic biopsy group has a higher positive rate than MRI-guided stereotactic biopsy group, indicating that this method can improve the positive rate of diagnosis, and thus will help to formulate treatment plan for brain lesion.

Application study of medical robots in vascular intervention.

BACKGROUND: Based on the background of minimally invasive surgery and applications of medical robots, a vascular interventional robotic system has been developed that can be used in the field of vascular intervention. METHODS: The robotic system comprises a propulsion system, an image navigation system and a virtual surgery training system. Integration of the three systems constitutes a vascular intervention prototype robotic system used to carry out in vitro vascular intervention and animal experiments. RESULTS: On a transparent glass vascular model, a catheter was shown to enter an arbitrary branch of the vascular model with catheter motion meeting the requirements of clinical vascular intervention surgery (VIS); i.e. error band of catheter motion < 0.5 mm. In the animal experiments, 1.33-2.00 mm (4F-6F) diameter catheters were selectively inserted successfully into predefined targets in the animal, such as the renal, cardiovascular and cerebrovascular artery. Compared with conventional manual surgery, the time for robotic surgery is a little longer. There were no operative complications in the animal experiments. CONCLUSIONS: These simulation and animal study results demonstrate that this vascular interventional robotic system allows doctors to perform angiography remotely and prevents them from radiation exposure. The system may be the basis for further clinical applications of vascular intervention.

[Experimental study of angiography using vascular interventional robot].

OBJECTIVE: To assess the feasibility and safety of vascular interventional surgery by using vascular interventional robot system (VIRS). METHODS: VIRS included image navigation systems and body propulsion systems, and adopted a master-slave structure. The surgeon sat at the master site, sending controlling instructions to the robot fixed at the slave site, and then the robot translated these instructions into catheter motion. A 3D vascular model was reconstructed so that the surgeon can perform surgical planning easily. In glass model and animal experiments, the surgeon remotely controlled VIRS, which inserted a catheter into predefined targets, and the catheter positioning error and robotic surgery time were measured. RESULTS: The robot was initially tested on a glass vascular model. Under robotic manipulation, the catheter could enter an arbitrary branch of the vascular model. The catheter positioning error was less than 1 mm. Then robotic interventional surgery was performed successfully in ten adult dogs. The renal artery and the vertebral artery angiography carried out smoothly without complication. Experiment took 35 minutes, and the time what staff exposed to the digital subtraction angiography (DSA) machine was 0 minute. CONCLUSION: Vascular interventional surgical robot system is safe and feasible, and can achieve the catheter remote operation, meet the requirements of angiography basically.

[Clinical analysis of 1434 cases of frameless stereotactic operation].

OBJECTIVE: Stereotactic operations were performed using a frameless stereotactic instrument manufactured by CAS-R-2 instead of traditional stereotactic frame. The aim of this study was to assess the clinical usefulness, accuracy and safety of frameless stereotactic instrument. METHODS: The clinical data of 1434 patients was retrospectively reviewed. The mean age was 30.7 years (from 0.2 to 89.0 years). Each patient underwent frameless CT/MRI image-guided stereotactic surgery by this robot system from January 1997 to January 2006. The accuracy of position and improvement of symptom were observed. The averaged period of followed-up was 24 months (from 3 to 48 months). RESULTS: The surgical procedures were performed successfully in all cases. All targets were pointed accurately at first time during the operation. The total effective rate was 93.3% without serious operation related complications. CONCLUSIONS: Compared with the traditional stereotactic operations, this method has some advantages, such as releasing the patient's pain, convenience the doctors, extending the range of indications and increasing the safety and effective of operation.

[Clinical application of robotic tele-manipulation system in stereotactic surgery].

OBJECTIVE: To assess the clinical usefulness, accuracy, and safety of tele-manipulation for frameless stereotactic surgery using the CAS-R-5 robot system. METHODS: We prospectively evaluated 32 patients underwent tele-manipulation of frameless stereotactic operations from Sep. 2005 to Sep. 2006. Tele-manipulations were performed via a digital data network by a neurosurgeon in Beijing while the patients were located in Yan'an. The distance is 1300 kilometers away. The accuracy of location and improvement of symptom were observed after operation. The period of follow-up was from 3 to 14 months (the average was 12 months). RESULTS: The surgical operations in 32 cases were successful. Remote fiducial registration was performed with a mean accuracy of 1. 50 mm and the standard difference were 0.32 mm between the planned and actual target. There were no complications. CONCLUSIONS: Diagnosis and treatment for intracranial disease by tele-manipulation frameless stereotactic surgeries are reliable and safe.