The changes of morphology, ATP and malonaldehyde (MDA) contents, xanthine oxidase (XO) activity as well as the glutathione peroxidase (GSH-px) activity of rabbit aortic endothelial cells under hyperoxia (100% O_2) for 0-72 hours were studied. We found that cellular morphological changes including swelling, shape variation after hyperoxia were time-dependent; after a temporarily increasing (24hr)(P

Spermiogenesis is a complex process of differentiation and morphologic alteration, in which sperm acrosome formation is an important stage. Acrosome is an essential component of the sperm head, which develops in four distinct phases: Golgi, cap, acro- somal, and maturation, each supported by precise and orderly regulation of various genes. The regulatory genes which act on Golgi ap- paratus include GOPC, Hrb, SPATA16, PICK1, and CK2α', those involved in the cap phase are Fads2, syntaxin 2, Kdm3a, and UBR7, and participating in acrosomal and maturation phases are KIFC1, Rnf19a, and DPY19L2. The abnormalities of these genes may affect male fertility by influencing the connection of the nuclear dense lamina and acroplaxome with the nuclear membrane and then the fusion and transportation of vesicles. This review focuses on the genes involved in different phases of acrosome formation.
Acrosome ; physiology ; Animals ; Golgi Apparatus ; Male ; Mice ; Sperm Head ; physiology ; Spermatids ; growth & development ; Spermatogenesis ; genetics ; Spermatozoa ; growth & development

Osteoid osteoma is very rarely located in the patella, and can represent a significant diagnostic challenge, resulting in a delay of treatment. Patients with osteoid osteoma of the patella often present with knee pain that is also a typical symptom of trauma or of other diseases such as arthritis, which are much more common than osteoid osteoma. We present two young male patients diagnosed with osteoid osteoma of the patella. Each of these patients had a history of intense knee pain; however, accurate diagnosis of osteoid osteoma in the patella had been delayed for more than one year. Computed tomography (CT) scans or magnetic resonance imaging (MRI) showed a circumscribed lesion of the patella in both patients, whereas X-ray examination (posteroanterior projection) was not able to detect the tumor. Different surgical procedures were performed in these patients for resection of the tumors, and the pathology findings confirmed the diagnosis of osteoid osteoma. Both patients recovered completely from surgery.
Adolescent ; Adult ; Humans ; Male ; Osteoma, Osteoid ; diagnosis ; diagnostic imaging ; surgery ; Patella ; diagnostic imaging ; pathology ; surgery ; Radiography

OBJECTIVETo evaluate the surgical treatment and outcome of autogenous bone grafting and internal fixation in management of bone nonunion after massive allograft transplantation.

METHODSFrom January 1994 to December 2006, 41 of 176 patients underwent bone nonunion after massive allograft transplantation. Twenty-two of 41 patients received autogenous bone grafting. Complete clinical and follow-up data was available for 15 cases. The average age at secondary autogenous bone grafting was 24 years old (ranging from 15 to 34). The primary diseases included osteosarcoma (5 cases), giant cell tumor (4 cases), parosteal osteosarcoma (2 cases), hemangioendothelioma (2 cases) and primitive neuroectodermal tumor (2 cases). Tumor was located at distal femur in 7 patients, middle of humerus in 3, middle of femur in 2, proximal tibia in 2 and proximal humerus in 1. Eight of 15 patients with simple bone nonunion received autogenous bone grafting. Another 7 patients with bone nonunion and fracture of primary internal fixation underwent autogenous bone grafting and re-internal fixation.

RESULTSAt a mean follow-up of 46.8 months (ranging from 18 to 148 months), bone union was observed in 13 of 15 patients (86.7%) with the mean healing time 13.3 months (ranging from 5 to 20). Bone union could be observed in all 8 patients with simple bone nonunion and 5 of 7 patients with bone nonunion and internal fixation fracture, similar healing time 14 and 12 months respectively. There was no infection or any other complications. Two patients underwent re-nonunion received prosthesis replacement at last. The mean MSTS score of 13 patients was 25.1, with 8 simple bone nonunion patients and 5 combined with internal fixation fracture patients 25.4 and 24.6 respectively, also basically no difference.

CONCLUSIONSAutogenous bone grafting and internal fixation in management of nonunion after massive allograft transplantation have the advantage of easy operation, less complications, high rate of bone healing and good function result with obvious superiority to prosthesis replacement. For management of nonunion after massive allograft transplantation, autogenous bone grafting and internal fixation is mostly recommended.

Adolescent ; Adult ; Bone Neoplasms ; surgery ; Bone Transplantation ; Female ; Follow-Up Studies ; Fracture Fixation, Internal ; methods ; Fracture Healing ; Humans ; Male ; Reoperation ; Retrospective Studies ; Transplantation, Homologous ; Young Adult

Objective To investigate the prognostic factors affecting the postoperative survival of patients with invasive bladder cancer,and to predict the survival time of the patients.Methods We retro- spectively analyzed the clinical and follow-up data of 178 patients with invasive bladder cancer treated by radical cystectomy and urinary diversion from 1991 to 2004.A multivariate analysis was performed in these patients by the Cox proportional hazard model.A prognostic index(PI)based on the Cox regression was con- structed.According to the individualized PI,the patients were classified into different hazard groups and the expected survival curve of each patient was calculated.Results Cox regression analysis showed that the factors which influenced the postoperative survival included tumor stage(RR=1.982,P=0.000),grade (RR=1.978,P =0.042),lymph node metastasis(RR=2.142,P=0.048),Tis(RR=6.177,P= 0.000),tumor shape(RR=0.416,P=0.003),number of tumors( RR=1.820,P=0.035),pathological type(RR=2.228,P=0.032),patient age(RR=0.672,P=0.025)and neoadjuvant chemotherapy (RR=0.257,P=0.016).Based on the percentile of PI,patients were classified into 3 prognostic groups; the median survival time of 3 groups were 42.5,22.5 and 7.0 months,respectively.There were significant differences between each 2 among the 3 groups(P＜0.01).Conclusions Neoadjuvant chemotherapy, tumor stage,grade,lymph node metastasis,Tis,shape and number of tumors,pathological type,patient age were important prognostic factors.PI value can be used to predict the prognosis of patients with invasive blad- der cancer.

Objective To study the pathologic and clinical features of malignant rhabdoid tumor of the kidney(MRTK),and to improve the diagnosis and treatment of the disease.Methods The clinical and pathologic data of 5 patients(4 men and 1 woman;mean age,50 years;age range,21-67 years)with MRTK(3 tumors on the left and 2 on the right)were retrospectively analyzed in combination with review of the relevant literature.Of the 5 cases,I was incidentally diagnosed with renal tumor during physical examina- tion;and 3 had gross hematuria,low back pain and discomfort,and abdominal masses.Results Radical nephrectomy was performed in all 5 cases.The tumors averaged 6.5cm in diameter.By NWTS staging,4 ca- ses had stageⅡtumors and 1 case had stageⅢtumor.Pathological features were as follows.Rhabdoid cells were characterized by eccentric nuclei,prominent nucleoli,and abundant cytoplasm containing eosinophilic inclusions that were strongly positive for vimentin and epithelial membrane antigen(EMA).Electron micros- copy showed intermediate filaments and round,irregular fibroid or whorl-like corpuscles in the cytoplasm. Follow-up was available in 4 patients(mean,6.8 months;range,3-24 months).Of them,2 died of metasta- sis or complications 12 months after operation;and 2 were alive without recurrence and metastasis for 6 months.Conclusions MRTK is a rare and morphologically distinctive neoplasm with specific findings of pathological features.The tumor has a poorer prognosis,but comparatively it is better in adults than in adoles- cents.

OBJECTIVETo investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD.

METHODSThe clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD). The loci with gene mutations were identified, and a bioinformatic analysis was performed.

RESULTSTwo mutations were detected in the BCKDHB gene, missense mutation c.304G>A (p.Gly102Arg) and nonsense mutation c.331C>T (p.Arg111*), and both of them were heterozygotes. The mutation c.304G>A (p.Gly102Arg) had not been reported in the world. Their father carried the missense mutation c.304G>A (p.Gly102Arg), and their mother carried the nonsense mutation c.331C>T (p.Arg111*).

CONCLUSIONSThe c.331C>T (p.Arg111*) heterozygous mutation in BCKDHB gene is the pathogenic mutation in these twin neonates and provides a genetic and molecular basis for the clinical features of children with MSUD.

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) ; genetics ; Diseases in Twins ; Female ; Humans ; Infant, Newborn ; Male ; Maple Syrup Urine Disease ; genetics ; Mutation

BACKGROUND: Computed tomography (CT) and magnetic resonance imaging (MRI) data can be fused to identify the tumor boundaries. This enables surgeons to set close but tumor-free surgical margins and excise the tumor more precisely. This study aimed to report our experience in performing computer navigation-aided joint-preserving resection and custom-made endoprosthesis reconstruction to treat bone sarcoma in the diaphysis and metaphysis of the femur and tibia. METHODS: Between September 2008 and December 2015, 24 patients with bone sarcomas underwent surgical resection and joint-sparing reconstruction under image-guided computer navigation. The cohort comprised 16 males and eight females with a median age of 19.5 years (range: 12-48 years). The tumor location was the femoral diaphysis in three patients, distal femur in 19, and proximal tibia in two. The tumors were osteosarcoma (n = 15), chondrosarcoma (n = 3), Ewing sarcoma (n = 3), and other sarcomas (n = 3). We created a pre-operative plan for each patient using navigation system software and performed navigation-aided resection before reconstructing the defect with a custom-made prosthesis with extracortical plate fixation. RESULTS: Pathological examination verified that all resected specimens had appropriate surgical margins. The median distance from the tumor resection margin to the joint was 30 mm (range: 13-80 mm). The median follow-up duration was 62.5 months (range: 24-134 months). Of the 24 patients, 21 remain disease free, one is alive with disease, and two died of the disease. One patient developed local recurrence. Complications requiring additional surgical procedures occurred in six patients, including one with wound hematoma, one with delayed wound healing, one with superficial infection, one with deep infection, and two with mechanical failure of the prosthesis. The mean Musculoskeletal Tumor Society score at the final follow-up was 91% (range: 80%-100%). The 5- and 10-year implant survival rates were 91.3% and 79.9%, respectively. CONCLUSIONS Computer navigation-aided joint-preserving resection and custom-made endoprosthesis reconstruction with extracortical plate fixation is a reliable surgical treatment option for bone sarcoma in the diaphysis and metaphysis of the femur and tibia.
Adolescent ; Adult ; Child ; Computers ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Osteosarcoma ; Prostheses and Implants ; Sarcoma ; Young Adult

OBJECTIVEThis review aimed to summarize the relationship between intestinal microbiota metabolism and cardiovascular disease (CVD) and to propose a novel CVD therapeutic target.

DATA SOURCESThis study was based on data obtained from PubMed and EMBASE up to June 30, 2015. Articles were selected using the following search terms: "Intestinal microbiota", "trimethylamine N-oxide (TMAO)", "trimethylamine (TMA)", "cardiovascular", and "atherosclerosis".

STUDY SELECTIONStudies were eligible if they present information on intestinal microbiota metabolism and atherosclerosis. Studies on TMA-containing nutrients were also included.

RESULTSA new CVD risk factor, TMAO, was recently identified. It has been observed that several TMA-containing compounds may be catabolized by specific intestinal microbiota, resulting in TMA release. TMA is subsequently converted to TMAO in the liver. Several preliminary studies have linked TMAO to CVD, particularly atherosclerosis; however, the details of this relationship remain unclear.

CONCLUSIONSIntestinal microbiota metabolism is associated with atherosclerosis and may represent a promising therapeutic target with respect to CVD management.

Atherosclerosis ; metabolism ; microbiology ; Gastrointestinal Microbiome ; physiology ; Humans ; Methylamines ; metabolism

OBJECTIVETo report the experience for the precision osteoid osteoma resection using computer navigation system.

METHODSBetween January 2008 and December 2009, 26 surgical resections were performed for 26 patients who had osteoid osteoma with computer navigation system. There were 23 males and 3 females with an average age of 18 years (7 to 35). Tumors were located at femoral shaft 9, femoral trochanter 4, femoral neck 2, tibial shaft 5, metaphysic of proximal tibia 1, acetabulum 2, pubis 1, vertebral appendix 1 and radial shaft 1. Pre-operative X-ray and CT of each patient was performed to confirm the diagnosis. It was carried out intraoperatively the process of CT-based navigation in 4 cases and intraoperative Iso-C three-dimensional navigation in 22 cases. The Navigation System software was Spine Navigation 1.2 in all cases. The Pointer was helpful to localize the lesion and precisely resected the lesion without removal of any excess bone.

RESULTSAll the navigation operations were finished successfully with curettage for 12 and En Bloc resection for 14. Bone grafting was made in 21 cases and none in 3 cases. The completely clearance of nidus by intraoperative visual inspection and Pointer confirmation, postoperative X-ray and(or) CT scan was performed in all cases. All cases had histopathology diagnosis of osteoid osteoma and immediate pain relief after surgery. All cases were followed up for 20.6 months averaged (12 to 35 months). No local recurrence and pain relapse occurred.

CONCLUSIONSThe navigation system is very helpful for the precision tumor resection of nidus. Especially for the patients with osteoid osteoma located at diaphysis, Intraoperative Iso-C three-dimensional navigation is more useful.

Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Osteoma, Osteoid ; surgery ; Retrospective Studies ; Surgery, Computer-Assisted ; methods ; Treatment Outcome ; Young Adult