OBJECTIVETo evaluate the role of germline mutations of TP53 gene among a Chinese population with high risk for breast cancer.

METHODSA total of 81 BRCA-negative breast cancer probands from cancer families were analyzed using targeted capture and next-generation sequencing. Candidate mutations were verified with Sanger sequencing. Co-segregation analyses were carried out to explore the likely pathogenicity of the mutation.

RESULTSOf the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9.1% of all families who fulfilled the diagnostic criteria for LFS. Two of the carriers were diagnosed with breast cancer under the age of 30, and have accounted for 11.8% (2/17) of all very young (≤30 years) breast cancer patients in our study.

CONCLUSIONThe TP53 germline mutation is more common in Chinese population with a high risk for breast cancer than previously thought. TP53 gene mutation screening should be considered particularly for patients with a family history of LFS and very young age of onset.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Breast Neoplasms ; ethnology ; genetics ; China ; DNA Mutational Analysis ; Exons ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Germ-Line Mutation ; Heterozygote ; Humans ; Li-Fraumeni Syndrome ; ethnology ; genetics ; Male ; Middle Aged ; Pedigree ; Risk Factors ; Tumor Suppressor Protein p53 ; genetics ; Young Adult

Purpose To study the MRI manifestations of hippocampus with acute injury in children with epilepsy, and to explore its causes and outcomes for a better understanding of the changes of hippocampal structure with acute injury.Materials and Methods The clinical and imaging data of 8 children with epilepsy whose hippocampus showed hyperintensity in DWI were retrospectively analyzed. The bilateral hippocampal volume and ADC values were measured; changes of hippocampal volume and T2WI signal and ADC value were also analyzed.Results Eight patients were clinically diagnosed as epilepsy, 7 cases had recurrent history of seizures. MRI was performed from 1 to 5 days after the onset of epilepsy. All the 8 patients had increased unilateral hippocampal volume, 6 of whom were on the left side and the other 2 were on the right side. The affected ipsilateral hippocampal volume was significantly higher than that on the contralateral side [(2.096±0.570) cm3 and (1.768±0.447) cm3, respectively,t=-4.763,P<0.01]. The signals increased on T2WI and FLAIR; DWI showed hyperintensity with increase by approximately 25.52%. The affected ipsilateral ADC value was significantly lower than the contralateral one [(0.763±0.049)×10-3 mm2/s and (0.859±0.054)×10-3 mm2/s, respectively, t=9.598,P<0.01]. No abnormalities were found in bilateral hippocampus when 3 patients underwent MRI due to febrile convulsions and seizures before the onset of epilepsy. The affected ipsilateral hippocampal volume reduced in 3 patients after 3 to 5 months;signal was still high on T2WI and FLAIR; ADC values increased by 15.6%, the imaging results indicated hippocampal sclerosis.Conclusion Epilepsy can cause acute injury in hippocampus which demonstrates hippocampus swelling, signal increase on T2WI, and reduced ADC value and may lead to hippocampal sclerosis.

A qualitative analytical method of liquid chromatography coupled with quadrupole time-of-flight tandem mass spectrometry(HPLC-QTOF-MS)was developed for identification of major constituents in process residue of tripterygium glycosides. The HPLC-QTOF-MS assay was performed on a Zorbax SB-C18 column(4. 6 mm × 50 mm, 1. 8 μm)with the mobile phase consisting of acetonitrile and water containing 0. 2% formic acid in gradient mode. Positive ion mode was used for TOF-MS. According to the accurate molecular weight, MS fragment pathway, comparison with the retention time of reference compounds, total 30 compounds, including fifteen alkaloids, ten diterpenoids, four triterpenoids and an unsaturated fatty acid were identified or tentatively characterized in process residue of tripterygium glycosides. This study may be helpful to the comprehensive exploitation and utilization of process residue of tripterygium glycosides.

ObjectiveTo introduce the design of the instrument for percutaneous posterolateral foraminoplasty and analyze long-term outcomes of percutaneous foraminoplasty and transforaminal endoscopic discectomy in the treatment of non-contained lumbar disc herniation.MethodsFifty-six patients with noncontained lumbar disc herniation confirmed by symptom,physical sign and concordant imaging underwent percutaneous foraminoplasty and transforaminal endoscopic discectomy,including 7 cases of L3-4,30 of L4-5 and 19 of L5S1.The visual analogue scales(VAS) of pre- and post-operative low back pain and sciatica were compared,and the Macnab scores were also evaluated.ResultsAll of the procedures were performed successfully,with mean operation time of 60 min(range,40-120 min),and a mean blood loss of 30 ml (range,20-50 ml).The follow-up time was more than 36 months.Postoperative VAS of low back pain and sciatica were significantly decreased compared with preoperative VAS (P＜0.01).There were 44 cases of excellent,10of good,and 2 of fair according to Macnab score system,with total successful rate (excellent and good) up to 96.4％.Only 5 cases with L5S1 disc herniation were found complicated with sun-burn syndrome,which were relieved by pulsed electro-stimulant therapy for 1 week.ConclusionPercutaneous foraminoplasty and transforaminal endoscopic discectomy is an effective and safe minimally invasive treatment alternative for non-contained lumbar disc herniation.

Objective To explore the value of ductus arteriosus in ultrasound diagnosis of fetal congenital heart disease by echocardiography. Methods The fetal echocardiography was performed with three segments diagnosis method. According to the fetal position, the ductus arteriosus was examined in different sections which include the V shape sign section formed by ductus arteriosus and right pulmonary artery,the V shape sign section formed by ductus arteriosus and the gorge of aortic arch,the three fingers sign section formed by ductus arteriosus,left and right pulmonary artery,the Z shape sign section formed by left pulmonary artery, ductus arteriosus and the gorge of aortic arch. The flow velocity and the inner diameter of the ductus arteriosus were measured. Results Thirty-one cases with congenital heart disease were evaluted. Thirteen cases were approved by autopsy. Among those fetus, 4 cases went with ductus arteriosus stenosis and they all accompanied with right heart obstructing disease,3 cases went with dilated ductus arteriosus and they all accompanied with left heart obstructing disease. Retrograde were explored in 2 fetus. The flow velocity of 5 fetus ductus arteriosus were higher than the normal fetus and 4 cases of them with right heart obstruction, 1 cases with left heart obstruction. Five fetal ductus arteriosus were normal. One fetal ductus arteriosus was absent. Conclusions Assessant of ductus arteriosus by echocardiography is an important content in screening fetal congenital heart disease. It can help us to diagnose quickly.

Objective To analyze the CT findings of melamine induced urinary calculi.Methods Nineteen children with a history of ingestion of melamine contaminated infant formula milk were studied, including 12 males and 7 females, age ranged from 50 days to 5 years.Results CT demonstrated renal pelvic and ureteral stones in 13 cases, with urinary obstruction in 9 of them.The size of the stones ranged from 0.3 cm × 0.3 cm to stag-horn calculus.The density of the stones measured from a low of 40-70 HU up to a high of 410 HU with an average density of 160 HU.Conclusion CT scan is an excellent modality in demonstrating urinary tract calculi caused by melamine. It is the method of choice when ultrasound examinations are equivocal.

Objective To analyze the ultrasound findings of urinary calculi caused by melamine. Methods The urinary system of totally 5337 children were examined with high frequency convex ultrasound probe,the characteristics of the images were analysed. CT plain scan method was used when ultrasound result was in difficulty. Results There were 360 cases with calculus in the 5337 children. In the 360 cases, unilateral calculus was in 92 cases, bilateral calculus in 48, bladder stone in 3, urethra stone in 1, kidney calcium deposition in 2, suspicion stone in 214 cases, urinary obstruction in 28 of them. The size of the stones ranged from 3 mm×2 mm to stag-horn calculus. Conclusions The urinary calculi caused by melamine is sandy stone. Ultrasound result is equivocal in the disease, CT plain scan can be a method of choice. High frequency convex probe provides more clear images, more evident adminstrative levels of anatomise than general abdominal probe does. It is beneficial for diagnosing and differential diagnosing of these diseases.

Objective To retrospectively analyze the results of closed reduction and static trans-articular fixation with unilateral external fixators in the treatment of unstable distal radius fractures.Methods From June 2000 to March 2005,45 patients with 50 unstable distal radius fractures were treated with closed reduction and static transarticular fixation by unilateral external fixators.Their average age was 44.8 years(15 to 78 years).All the fractures were classified with AO-scheme.There were five A3-fractures,four B3-fractures,three C1-fractures,nine C2-fractures and 29 C3-fractures in 24 cases.Follow-ups lasted from 8 to 48 months(averaging 20 months).Results The time of bone healing was 6 to 8 weeks(averaging 7.6 weeks).At the latest follow-up,the radiological outcomes were excellent in 42 fractures(39 patients)and good in eight fractures(six patients)according to the Sarmiento rating system modified by Ste wart et al.The functional results included 37 excellent cases(34 patients),nine good ones(eight patients)and four fair ones(three patients)according to the Gartland-Werley assessment.There were only four cases of superficial pin site infection settled with oral antibiotics and mild disinfectants.Conclusions Closed reduction by manipulation and static transarticular fixation with unilateral external fixators is an effective method to treat severely comminuted distal radius fractures caused by high-energy injury.Radial nerve injury and iatrogenic fracture of the 2nd metacarpal bone can be avoided,pin tract infection and pin loosening can be decreased,and early postoperative mobilization of hand can be facilitated by insertion of external pins at appropriate sites.It is unnecessary to apply supplementary bone grafting to promote bone healing.

Objective To retrospectively analyze the results of unilater al external fixators in the treatment of the distal third fractures of humeral s hafts. Methods From October 1997 to October 2002, 33 patients from 15y-70y (ave rage 31y) with the distal third fractures of humeral shafts were treated with un ilateral external fixators. They included 3 transverses fractures, 1 oblique fra cture, 9 spiral fractures and 20 comminuted fractures. 15 cases were treated wit h open reduction and fixation with external fixators and limited internal fixati on, 10 cases were treated with open reduction and fixation with external fixator s, and 9 cases were treated with closed reduction and fixation with external fix ators. 9 cases with radial nerve injury undewent nerve exploration. External fix ators were removed after bone healing. Duration of follow-up was 8 to 24 m (ave rage 18 m). Results The time of bone healing was 11 to 22 w (average 14 w). At t he latest follow-up, the function of injured radial nerves in 9 preoperative ca ses and 2 postoperative cases and the motion function of elbow were restored to normal. There were only 7 cases of superficial pin site infection which were cur ed with oral antibiotics and pin site care with mild disinfectants. Conclusion U nilateral external fixators can play special roles and have good results in the treatment of the distal third fractures of humeral shafts, combined with open re duction and limited internal fixation.

Objective To analyze retrospectively the results of closed reduction and static transarticular fixation with unilateral external fixators in the treatment of severely comminuted distal radius fractures caused by high-energy injuries. Methods From June 2000 to June 2003, 20 patients with 24 severely comminuted distal radius fractures were treated with closed reduction and static transarticular fixation with unilateral external fixator. The injuries involved 16 males and 4 females, the age of the patients was from 15 to 48 years (average 33.4 years). All fractures were classified as Frykman's type Ⅷ or AO type C3. The operative technique consisted of reduction of the fractures by manipulation or assisted with the external fixator, then fixed them statically. The mean duration of the union was 7.4 weeks (ranged from 6-8 weeks). After the fixator removal, the patients were encouraged to proceed for the rehabilitations, such as the elbow flexion-extension, radial abduction, ulnar adduction, and the pronation as well as the supination of the forearm. Results All patients were available at the final follow-up, the mean duration was 16 months (range, 6-42 months). At the last examination, the radiological manifestations revealed excellent in 21 fractures (17 patients) and good in 3 (3 patients) according to the Sarmiento scoring system (modified by Stewart); and the functional results displaied excellent in 16 (13 patients), good in 6 (5 patients) and fair in 2 (2 patients) according to Gartland-Werley functional assessment system. There were only 2 cases of superficial pin site infection cured with oral antibiotics and local care with mild disinfectants. 7 obvious defect of mataphysis occurred in 5 patients, but the fractures united simultaneously without any additional treatment. And there was no any complication, such as pin tract infection, fixator loosening, iatrogenic fracture and injury of the superficial radial nerve. Conclusion The technique of closed reduction by manipulations or external fixators combined with static transarticular fixation plus unilateral external fixators is an effective method for the treatment of severely comminuted distal radius fracture caused by high-energy injuries, such as falling from the height. It is unnecessary to apply supplementary bone grafts to promote bone healing. The complications can be avoided by selecting the right sites for the insertion of the pins, which is beneficial for the hand to mobilize earlier after operation.