ABSTRACT
Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as "pathogenic" or "likely pathogenic", and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.
Subject(s)
Female , Humans , Male , Anti-Mullerian Hormone , China , Disorder of Sex Development, 46,XY/surgery , UltrasonographyABSTRACT
Given the importance of regional centers for medical image sharing and cooperation is important for resource balancing, healthcare service enhancement and medical expense reduction, building such regional medical image sharing and cooperation centers faces huge challenges. In this paper we analyze the advantages and weakness of two storage architectures, and designed a hybrid storage architecture combining FC SAN and Hadoop HDFS. A HDFS suitable medical image file format, called S-DICOM, and a set of S-DICOM operating middleware, SDFO (S-DICOM File Operator), was developed. The results of performance testing indicated that this hybrid storage architecture is suitable for storing and managing large volume of medical images.
Subject(s)
Image Processing, Computer-Assisted , Information Storage and Retrieval , Radiology Information Systems , SoftwareABSTRACT
Objective To study the impacts of the Three Gorges dam and change of water level on the survival of the local rodents, and to provide scientific basis to control the outbreak of rodent-borne diseases.Methods Four villages located around the Three Gorges dam were selected in the study. The mouse populations by using Elton night trapping method was monitored. Metallic spring traps were set for two consecutive nights. The mouse density and identified the mouse species was calculated. The mouse species indoor and outdoor, as well as the mouse density indoor and outdoor were compared. The impacts of water level in the dam and cleaning work on local mouse density were also analyzed. Results A total of 678 mice were caught in this study, 517 were caught indoor and 161 outdoor. Indoor dominant species was flavipectus; accounting for 36.49%(189/517), while outdoor was apodemus, reaching 56.88% (91/161). For mouse species, there was a significant difference between indoor and outdoor(x2 = 678.00, P ＜ 0.01 ). The average mouse density was 8.44%(678/8036) in trap nights. Indoor mouse density reached 14.44%(517/3581 ), which was significantly higher than that of outdoor(3.61%, 161/4455 ).For mouse density, there was a significant difference between indoor and outdoor(x2 = 301.04, P ＜ 0.01 ). When the water level was up to 156 m, mouse density reached 10%(513/5132), which was higher than that of before (5.68%, 165/2904). There was a significant difference in mouse density before and after reserving water (x2 = 44.68, P ＜ 0.01 ). With the change of water level, upstream mouse density formed a high platform from May 2007 to May 2008, followed by 12.25%(80/653), 13.16%(90/684), 12.95%(90/695), and decreased to 8.38%(28/334) after cleaning of the dam. Conclusions The Three Gorges dam and change of water level actually alter the survival environment of the local mouse, and affect local mouse density and mouse species. These may lead to local outbreak or epidemic of rodent-borne diseases.
ABSTRACT
This paper presents a novel x-ray dose testing water tank used for the stereotactic radiation therapy system, including its constitution, structure and the method of using it. The water tank has a simple structure of inner and outer sleeves which are connected through a drowned pump and a water pipe in order to control the water level of the tank. The water tank featuring autoregulation and easy use is worthy of clinical application and popularization.
Subject(s)
Equipment Design , Radiosurgery , Methods , Radiotherapy Dosage , Radiotherapy Planning, Computer-Assisted , MethodsABSTRACT
We present a new mixing rigid-elastic multiresolution algorithm for medical image registration from global registration to local registration in sequence. The global registration is achieved by the method of affine transformation composed of B spline, which knots are the four vertexes of the medical image. When increasing the number of the knots of the B spline along the X and Y axis, the transformation function will be more complex and "elastic", which can complete the elastic aligning for the detail of the medical image. The results of experiment demonstrated that the presented algorithm was more robust than the previous elastic algorithm of registration.
Subject(s)
Animals , Humans , Algorithms , Elasticity , Image Interpretation, Computer-Assisted , Methods , Image Processing, Computer-Assisted , Methods , Magnetic Resonance Imaging , Methods , Models, Theoretical , Pattern Recognition, Automated , Methods , Tomography, X-Ray ComputedABSTRACT
<p><b>UNLABELLED</b>To study the method for dose calculation and beam weight optimization of intensity-modulated radiation therapy (IMRT).</p><p><b>METHODS</b>The IMRT dose calculation model based on two-dimensional convolution was constructed, the program of dose calculation and beam weight optimization with genetic algorithm was written with Visual c#.Net, and the optimization results were analyzed.</p><p><b>RESULTS</b>Genetic algorithm optimization of beam weights can produce highly conformal dose distributions within a clinically acceptable computation time.</p><p><b>CONCLUSION</b>Genetic algorithm is valid and efficient in IMRT beam weight optimization, which may facilitate IMRT treatment planning.</p>
Subject(s)
Humans , Algorithms , Models, Statistical , Models, Theoretical , Radiotherapy Dosage , Radiotherapy Planning, Computer-Assisted , Methods , Radiotherapy, Conformal , Methods , Reference StandardsABSTRACT
This paper introduces the constitution and fabrication of the new head and neck stereotactic conformal radiotherapy system. It remedies the shortages in the head and neck stereotactic conformal radiotherapy at present and it is deserved to be popularized in clinical applications.
Subject(s)
Humans , Equipment Design , Head , Diagnostic Imaging , General Surgery , Head and Neck Neoplasms , Diagnostic Imaging , General Surgery , Neck , Diagnostic Imaging , General Surgery , Radiography , Radiosurgery , Radiotherapy, ConformalABSTRACT
A fast technique for implementing Holter cardio real time data reduction based on pointer and dual data buffers is presented in this paper, and an example of its application is also given here.