OBJECTIVE: To explore the genetic basis for a girl with febrile convulsion as the main manifestation. METHODS: The child was subjected to whole exome sequencing (WES) and copy number variation sequencing(CNV-seq). Fluorescence quantitative PCR was carried out to validate the microdeletion in her family. RESULTS: The 7-year-old girl was diagnosed with febrile convulsion (complex type) for having fever for 3 days, mild cough and low thermal convulsion once. Her father, mother and aunt also had a history of febrile convulsion. A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq. The deletion has derived from her father and was confirmed by fluorescence quantitative PCR. CONCLUSION 16p13.11 microdeletion syndrome has significant clinical heterogeneity. Different from those with epilepsy, mental retardation, autism, multiple malformations, carriers of 16p13.11 deletion may only manifest with febrile convulsion. Deletion of certain gene(s) from the region may be related to febrile convulsion and underlay the symptom of this child.
Child ; DNA Copy Number Variations ; Epilepsy ; Female ; Humans ; Seizures/genetics* ; Seizures, Febrile/genetics* ; Whole Exome Sequencing

OBJECTIVE: To analyze the clinical and genetic characteristics in a girl with 2q37 deletion syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples taken from the patient and her parents, and was subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). Candidate CNVs were verified by chromosomal karyotyping analysis and fluorescence quantitative PCR. RESULTS: The child was found to harbor a 6 Mb heterozygous deletion in 2q37 by WES and CNV-seq. The deletion has encompassed 98 genes with a range from GBX2 to LINC01881, and was de novo in origin. The result of fluorescence quantitative PCR was consistent with that of WES and CNV-seq. However, karyotyping analysis has failed to detect the deletion. CONCLUSION The patient was diagnosed with 2q37 deletion syndrome. Combined WES and CNV-seq method features high resolution, high throughput, and high sensitivity, which can significant raise the diagnostic rate for patients with mental disorder, multiple malformations and unknown syndromes.

Objective: To analyze the clinical characteristics and gene mutation of autosomal recessive dopa-responsive dystonia(AR-DRD), and to explore its therapeutic effect, follow-up findings and molecular genetic me-chanism. Methods: The whole exome sequencing, which based on next-generation sequencing, was performed in 6 movement-disordered patients who denied family history at the outpatient clinic of Children′s Hospital Affiliated to Capital Institute of Pediatrics from April 2016 to September 2017.The mutations identified in probands were then confirmed in probands and their parents by Sanger sequencing in order to analyze the cause of mutations. Results: (1)Clinical features: the onset of 6 patients was around infancy, complicated with muscle weakness and abnormal muscle tone.(2)Gene mutation analysis: All 6 patients carried TH gene mutations.Five patients were of complex heterozygosis mutations, 1 patient was of homozygosis mutation.Five mutations were detected: c.605 G>A, c.601 C>T, c.364C>T, c.1412_1413insCCCCCAGGCCGTGC and c. 646G>A.(3)Therapeutic effect: all 6 patients achieved improvement of motor function after dopamine treatment, and they presented the different degrees of improvement in muscle tone and muscle strength. Conclusions The AR-DRD patients who carried c. 605 G>A mutation have a good therapeutic effect treated with L-Dopamine.This mutation may be a common mutation site of mild to moderate defective AR-DRD at home and abroad.The frameshift mutation c. 1412_1413insCCCCCAGGCCGTGC is a new TH gene pathogenicity mutation site discovered by this study.

BACKGROUND: Trabecular metal has been reported to provide enough physiologic support for new bone formation, to induce bone ingrowth and osseointegration so as to achieve the biological synosteosis; therefore, it is available for improving the initial and second stability of the dental implant.OBJECTIVE: To explore the stress distributional differences between porous tantalum trabecular metal (PTTM) dental implant and conventional titanium (TI) dental implant in the zone of mandibular premolar using three-dimensional finite element analysis.METHODS: Three-dimensional finite element models emulating PTTM and TI dental implants were established using Mimics16.0 and CATIA in the zone of mandibular premolar with three types of bone (II, III, IV). Then 100 N force was applied on the abutment at a 45° angle to the vertical axis of the implants in software of MSC Patran2010 and Nastran2010, then the representative von Mises stress nodes were calculated and sampled randomly, and finally the von Mises stress distributional differences between two types of implants were analyzed using SPSS 20.0 statistical software.RESULTS AND CONCLUSION: (1) The Von Mises stresses around the two types of implants both focused on the interface of the cortical bone-abutment-implant region, and the stress was relatively less for the corresponding trabecular bone. (2) If the bone quality was similar, the average von Mises stress of PTTM was higher than that of TI dental implants, but there was no significant difference (P > 0.05). As the bone density lowered (II-IV), the average Von Mises stresses were both increased, and the increasing rate of PTTM was higher than that of TI in bone of II-III, and was lower than that of TI in bone of III-IV. In this experiment, there were no significant stress distributional differences between PTTM and TI dental implant. However, with the bone density reduction, the increasing rate of average Von Mises stress for PTTM was lowered than that for TI dental implants in bone of III-IV, which suggests that PTTM dental implant may be more beneficial for the primary and secondary stability in osteoporosis patients undergoing dental implantation.

Objective To analyze the malignant tumor incidence and mortality in Heilongjiang province in 2013.Methods Tumor registration data of Heilongjiang province cancer registries in 2013 were collected.The malignant tumor incidence and mortality of registration data from 7 cancer registries were analyzed according to the criteria of quality control from National Central Cancer Registry (NCCR).Results The crude incidence rate of cancer in Heilongjiang province was 234.34/105.Age-standardized incidence rates by Chinese standard population (ASIRC) and by world standard population were 153.08/105 and 149.33/105 with the cumulative incidence rate (0-74 years old) of 17.17％.The cancer incidence and ASIRC were 258.42/105 and 157.00/105 in urban areas,whereas in rural areas,they were 190.95/105 and 145.44/105,respectively.The cancer mortality in Heilongjiang province was 147.62/10s.Age-standardized mortality rates by ASIRC and by world standard population were 92.22/105 and 91.41/105 with the cumulative incidence rate (0-74 years old) of 10.44％.The cancer mortality and ASIRC were 171.85/105 and 97.85/105 in urban areas,whereas in rural areas,they were 103.95/105 and 78.48/105,respectively.Lung cancer,breast cancer,liver cancer,colorectal cancer and gastric cancer were the high-incidence cancers in Heilongjiang province.Lung cancer,liver cancer,gastric cancer,colorectal cancer and breast cancer were the most death causes.Conclusion The morbidity and mortality of lung cancer are the highest in Heilongjiang province in 2013.Lung cancer and digestive system malignancies are the most common cancers in Heilongjiang province.Dynamic monitoring tumor morbi-dity and mortality in Heilongjiang province is the basis of the cancer prevention and control work.The active and effective comprehensive control measures should be taken to curb the rising trend of malignant tumor burden.

BACKGROUND:There is a lack of study on material properties and parameters of foot finite element models in China. Vernier caliper is a common method for measuring the width and thickness of ligaments and tendons to calculate the cross-sectional area.
OBJECTIVE:To design a new ligament cross-sectional area measuring instrument to improve the measurement accuracy.
METHODS:The cross-sectional area of the five fresh cadaver ankle ligaments was respectively measured using the new instrument and vernier caliper, and then a comparative analysis of the two measurement methods was performend.
RESULTS AND CONCLUSION:The cross-sectional area of anterior talofibular ligament, calcaneofibular ligament, tibionavicular ligament and calcaneotibial ligament was (20.61±7.52), (22.38±11. 49), (33.09±9.91) and (28.20±10.88) mm2, respectively measured by the vernier caliper, and (17.59±4.03), (20.77±7.91), (28.08±8.14) and (30.39±7.98) mm2 by the new ligament cross-sectional area measuring instrument. These results suggest that this new measuring instrument is accurate, reliable and easy to operate, which can be used as a special instrument to measure ligament cross-sectional area, but further studies wil be necessary.

Objective To evaluate results of cancer early detection and early treated project screening and experience in Heilongjiang province from 2013 to 2014.Methods In Harbin and Daqing city resident popu-lation ,high-risk groups were screened through the risk factors questionnaire and screened corresponding clinical examine,respectively(lung cancer,liver cancer,breast cancer,upper gastrointestinal cancer and colorectal canc-er) .To explore cancer preventive effect of early detection and early treated in Heilongjiang province.Results We smoothly completed the cancer early detection and early treatment between 2013—2014 in Heilongjiang prov-ince,a total of 15628 people received a copy of risk factors questionnaire,10299 people in high-risk groups re-ceived clinical screening.A total of 66 cases of suspected cancer cases were screened.Conclusion completed Cancer early detection and early treatment are performed in Heilongjiang province between 2013—2014.Early de-tection can be treated early project for early discovery,early diagnosis and early treatment.It is important to im-prove the quality of screening survival time and survival of patients′.The project also promotes the early diagrosis and early treatment experience in Heilongjiang province.

BACKGROUND:In recent decades, total knee arthroplasty is widely used in the treatment of terminal knee joint diseases, such as osteoarthritis, rheumatoid arthritis, traumatic arthritis and other bone diseases. The methods of osteotomy, soft tissue balance and prosthesis rotation positioning have always been debated and discussed in total knee arthroplasty. OBJECTIVE:To explore the repair effect of total knee arthroplasty for terminal knee disease. METHODS:Total knee arthroplasty was performed for treating terminal knee disease in 31 cases (31 knees), including 26 cases of osteoarthritis (26 knees) and 5 cases of rheumatoid arthritis (5 knees). Al cases accompanied flexion contracture deformity to different degrees. The maximum angle of flexion deformity was < 25°. Al patients were scored by hospital for special surgery knee score before and after replacement. Al 31 knees were treated with fixed platform posterior-stabilized prostheses. RESULTS AND CONCLUSION:No complications, such as early infection and prosthesis dislocation, were found after surgery. Joint pain apparently lessened, flexion and varus deformity obviously improved after replacement. Postoperative X-ray films showed good prosthesis position and low limb alignment. Al cases were folowed up for 6-12 months. The hospital for special surgery knee score improved significantly from preoperatively 46.4±5.3 to postoperatively 84.6±10.5 after 6 months of folow-up. Excelent and good rate was 84%. Results indicate that total knee arthroplasty for treating terminal knee disease has a good clinical effect. However, the operation is complex and precise technique is required.

Objective To screen the active components of Bushen Huoxue Decoction ( BSHXD) involved in promoting the proliferation of bone marrow mesenchymal stem cells ( MSCs). Methods BSHXD and its subdivisions were extracted with petroleum ether, ethyl acetate, water-free ethanol and water respectively. MSCs were isolated and cultured by the bone marrow adherent method. At the third passage, MSCs were identified by the specific surface markers with immunofluorescence, and their osteogenic and adipogenic differentiation were tested by alizarin red staining and oil red “O” staining. After treated with the extracts of BSHXD and its subdivisions at gradient concentrations for 24 hours, cell viability was detected by methyl thiazolyl tetrazolium (MTT) assay for the screening of active components and optimal concentration. MTT assay was used to describe the growth curve of MSCs treated with the most effective components, and cell cycle was analyzed by flow cytometry. Results Compared with the blank control group, the extracts of BSHXD and its subdivisions could protect MSCs from death to various degrees. Of all the extracts, the ethyl acetate extract of Bushen Division ( BSD) , ethyl acetate extract of BSHXD, ethyl acetate extract of Huoxue Division ( HXD) had the strongest effect, and the effect was dose-dependent, 100 μg/mL being the optimal active concentration while having no any cytotoxic reaction. The results of MTT assay revealed that BSD extracts promoted the proliferation of MSCs significantly and was the most effective component, and then came BSHXD. The results of flow cytometry indicated that BSD extract had the most strongest effect on increasing the amount of MSCs at proliferative phase, and then came BSHXD. Conclusion BSD ethyl acetate extract is the active component of BSHXD for promoting the proliferation of MSCs, showing an effect on increasing the proportion of MSCs at proliferative phase.

Objective To explore the clinical efficacy and application value of hemivertebra resection for treating congenital ky‐phoscoliosis .Methods 30 cases of congenital kyphoscoliosis and hemivertebral deformity in our hospital from January 2011 to Jan‐uary 2013 were selected as the research subjects .Among them ,12 cases of simple vertebral and non‐structural bending were per‐formed the posterior hemivertebral resection and short segment pedicle screw fixation ;3 cases of complicating lordosis and hemiver‐tebral protruding to the ventral side were performed the anterior hemivertebral resection and bone graft fusion fixation ;15 cases of complicating structural compensatory curve were performed the posterior transpedicle hemivertebral resection and compensatory bend long segment fixation and fusion .The clinical effects of surgical treatment for all patients were performed the comparative a‐nalysis .Results The mean postoperative kyphosis Cobb angle and the average final follow‐up Cobb angle were (8 .6 ± 3 .14) °and (11 .2 ± 7 .23) °respectively .The ultimate orthopedic rate of kyphosis was 58 .6% ;the average postoperative Cobb angle and and the average final follow‐up Cobb angle of scoliosis were (12 .8 ± 5 .47)°and (16 .2 ± 6 .24)°respectively ,the final orthopedic rate of scoliosis was 66 .5% .The mean Cobb angle of kyphosis and scoliosis after operation was significantly less than that before opera‐tion ,the difference was statistically significant(P< 0 .05) .Kyphosis and scoliosis were significantly improved .No significant post‐operative complications occurred .The effects were satisfied by the patients .Conclusion The hemivertebral resection has significant effect for treating congenital kyphoscoliosis with high kyphoscoliosis orthopedic rate and is worthy of further clinical study .