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Objective: To analyze the clinical phenotype and detect the pathogenic gene in a Chinese pedigree with autosomal dominant polycystic kidney disease(ADPKD). Methods: The proband of this study was hospitalized in Dongguan City People's Hospital on October 10, 2017, due to "left maxillary apical cyst". Clinical phenotypes were noted, imaging examinations and determination of biochemical indicators were carried out for the clinical diagnosis of the proband. Genomic DNA was extracted from peripheral venous blood. Whole-exome genotyping of the proband was performed with the next generation sequencing technology, and the candidate mutation site of the patient and his family members was verified by PCR and Sanger sequencing technology. The mutation site was further screened in 150 unrelated healthy Chinese controls. Mutation frequency within human populations and bioinformatics analysis were predicted with softwares including ExAC, dbSNP, HGMD, 1000 genomes, ClinVar, PKDB, Mutation Taster and PhyloP. Results: The proband, a 46-year-old male, was diagnosed with hypertension, positive urine occult blood and elevated blood creatinine. B-ultrasound and CT examinations showed that he had bilateral polycystic kidney with left kidney stones and polycystic liver. The gene analysis showed that the c.11017-10C>A heterozygous splice mutation in PKD1 gene was identified in the proband, his second younger brother, younger sister, daughter and niece, but absent in 150 healthy controls. Bioinformatics analysis showed it has been reported in the dbSNP, ClinVar, HGMD, PKDB and Mutation Taster databases. Some databases predicted it has a harmful function for probably leading to production of a truncated polycystin1(PC1) protein. Conclusion: c.11017-10C>A underlies the Chinese ADPKD pedigree and expands mutation spectrum of PKD1.

Objectives: To compare the clinical effects among three kinds of treatments (external fixation, plate fixation, and non-operation) of 1/3 displaced midshaft clavicular fractures in adults., Methods: Retrospective analysis was conducted on 306 patients with clavicular fractures in Trauma Orthopedic Department in Jishuitan Hospital from March 2010 to May 2013, and 89 of these patients met the inclusive criteria.Among them, there were 29 cases of external fixation (Group A), 30 cases of plate fixation (Group B), and 30 cases of non-operation with the clavicle sling in Outpatient and Emergency Department (Group C). The average follow-up period was 32 months.The results were evaluated from four perspectives, respectively, follow-up period, Constant Shoulder Score (CSS), Disability of the Arm Shoulder and Hand Score (DASH), and imaging.There was no significant difference in demography, severity of injuries, mechanism of injury, and fracture type among the patients in the three groups., Results: Among 29 cases of external fixation, 25 cases were successfully followed up, 4 were lost.60 cases of plate fixationand non-operation were all successfully followed up.Based on the pairwise comparison of CSS and DASH among the three groups, there was no significant difference between external fixation [(94.0±6.4), (15.2±3.4)Score] and plate fixation[(92.9±8.4), (15.7±3.5)Score] (both P>0.05). Mean values of CSS and DASH of non-operation group [(86.0±3.6), (18.0±3.6)Score] were lower than those of the former two groups (P<0.001). The healing time of 3 kinds of treatments were as follows: external fixation 10.4±2.32 weeks; plate fixation 12.1±2.5 weeks; and non-operation 15.7±2.2 weeks.In terms of their complications, for the external fixation group, there was 1 case of nonunion (4%); and 3 cases of angulation deformity in the 12(th) week, whose external fixations were maintained till their unions in the 16(th) week.Shortening and displacement did not appear in any cases.In the plate fixation group, there was 1 case of nonunion (3%) and no malunion in this group.The biggest complications of plate fixation were implants stimulus and to remove the plate in the second operation, accounting for 60%.In the non-operation group, there were 3 cases of nonunion (10%), and 12 cases of malunion (40%) including 10 cases without symptoms and 2 cases with symptoms.The satisfaction rates for the appearance of shoulder after these 3 kinds of treatments among the patients were 96%, 93% and 77%, respectively., Conclusions: (1) In treating 1/3 displaced midshaft clavicular fractures in adults, external fixation and plate fixation are overall better than non-operation.And there is no significant difference in curative effects between the two. (2) Both external fixation and plate fixation have its advantages and disadvantages.The choice of treatment must be based on the clinical type of the fracture and the communication with patients.

Objective: To explore the clinical characteristics, diagnosis, treatment and prognosis of perinuclear antineutrophil cytoplasmic antibody (p-ANCA) associated hypertrophic pachymeningitis., Methods: A retrospective study was performed for 6 inpatients with p-ANCA associated hypertrophic pachymeningitis at our hospital from 2005 to 2012., Results: There were 3 males and 3 females with an age range of 52 - 68 years. The main clinical manifestations included headache and multiple cranial neuropathies. Erythrocyte sedimentation rate, C-reactive protein, titer of myeloperoxidase (MPO)-ANCA and protein in cerebrospinal fluid were uniformly elevated in all 6 patients during active phase while cytoplasmic(c)-ANCA was all negative. Head magnetic resonance imaging (MRI) enhancement scan had a high diagnostic sensitivity. Different parts of dura were all thickened and obviously enhanced. Glucocorticoid was uniformly effective. During the follow-up period, 2 cases relapsed and received immunosuppressive agents., Conclusion: The disease should be considered in elderly patients with headache, cranial nerve injury and positive p-ANCA. And head MRI enhancement scan is helpful for diagnosis.

Objective: To explore the effects of entacapone on the plasma level of homocysteine (Hcy) in Parkinson's disease (PD) patients on levodopa., Methods: This cross-sectional study was made up of 4 groups, i.e. 'L + E' group (primary PD patients on levodopa and entacapone), 'L' group (primary PD patients on levodopa alone), 'L(-)' group (primary PD patients never on levodopa) and control group (people without PD or any other nervous system diseases). They were randomly selected from the PD patient database of our department in September 2012. At the beginning, 60 cases were selected for each group. The C677T genotypes of methylenetetrahydrofolate reductase (MTHFR) were identified and the plasma concentrations of Hcy, folic acid and vitamin B12 detected in each subject. Then group t test, single factor analysis of variance and χ(2) test were used for statistical analysis by SPSS 11.5 software., Results: Among 240 early subjects, 98 cases with CC genotype at 677 site of MTHFR gene were finally recruited. Statistical analysis revealed no differences in age, gender, plasma concentrations of folic acid and vitamin B12 among the groups. The PD duration of 'L + E' group (96 ± 21 months) were the longest among 3 groups, followed by those of 'L' group (51 ± 17 months) and 'L(-)' group (21 ± 6 months). The treatment duration and daily dose of levodopa in 'L + E' group (77 ± 22 months, 765 ± 110 mg) were all higher than those in 'L' group (42 ± 14 months, 673 ± 73 mg). The plasma Hcy concentrations of 'L + E' group (15.1 ± 3.1 µmol/L) were lower than those of 'L' group (20.4 ± 4.7 µmol/L), but still higher than those of 'L(-)' group (12.2 ± 2.4 µmol/L) and control group (9.1 ± 2.2 µmol/L). The Hcy concentrations of 'L(-)' group were also higher than those of control group., Conclusion: Entacapone increases the bioavailability of levodopa and simultaneously alleviates partially its resulting hyperhomocysteinemia.

Objective: To define the role of interferon-γ on radiotherapy of lung cancer and explore a new way to clinical treatment., Methods: A549 cells were exposed to γ ray with or without IFN-γ co-treatment. MTT assay was performed to evaluate cell viability. Western blot was used to observe the expression of P53 protein., Results: The results showed that co-treatment of IFN-γ decreased the cell viability significantly compared with the γ ray irradiation group (71.4% ± 2.1% vs 44.1% ± 3.1%, n = 7, P < 0.01). In addition, the expression of P53 protein also increased significantly after co-treatment (P < 0.01); Furthermore, the cell cycle was changed obviously in co-treatment group compared with γ ray irradiation group, S phase increased (12.9% vs 20.9%, n = 5, P < 0.05) and also blocked the G2/M phase (28.8% vs 38.9%, n = 5, P < 0.05)., Conclusions: The results suggested that γ ray irradiation combined with IFN-γ can increase the efficiency of radiotherapy on A549 cells and there is much broad prospect in the clinical treatment of lung cancer.

Objective: To study the prognosis of fibroid after ultrasound-guidance percutaneous microwave ablation (PMAUF)., Methods: From Mar. 2007 to Jul.2010 forty uterine fibroids in forty patients with symptoms which were diagnosed in our hospital accepted PMAUF. One day after treatment blood supply within the fibroid was evaluated, by enhanced MRI. The size of fibroid was measured by ultrasonography in one year with 3 months interval, the monthly menstrual of patient was followed and the mass discharge through vagina were collected for pathological examination., Results: Among the 40 fibroid nodules, 22 are intramural fibroids, 15 subserosal fibroids and 3 submucosal fibroids. The baseline mean diameter of the fibroids ranged from (3.7 to 9.0) cm, with an average of (6.4 ± 1.5) cm. The mean volume ranged from (14.6 - 341.1) cm(3), with an average of (140.1 ± 87.4) cm(3). Three months after treatment, the anechoic zone was observed within the ablated nodules and disappeared in six to seven months. the echo of ablated zone keep higher than the surrounding tissue, whereas the size of fibroid shrank significantly. Meat tissue was discharged from vagina in 8 patients (2 cases of submucosal fibroids, 6 cases intramural fibroids) in the period of menstrual in 1 - 8 months after ablation. The largest dimension of the discharge was 2.1 cm. Pathological examination confirmed the discharges as necrotic fibroid. The patients with subserosal fibroid had no discharge of necrotic tissue. The fibroid shrink rate was higher in the patients with vaginal discharges than that without vaginal discharges (P < 0.01)., Conclusions: After PMAUF necrotic tissue of submucosal and intramural fibroids can be discharged through vagina, liquefaction in the center of subserosal and intramural fibroids may occur and be absorbed gradually, that may be the main reasons for fibroids reduced significantly or disappearance.

Objective: To assess the regional cerebral glucose utilization and the imaging characteristic of Parkinson's disease with dementia (PDD) with (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET)., Methods: Questionnaire survey, mini-mental state examination (MMSE), physical examination, and FDG PET on brain at rest state were performed on 20 patients with PDD, 13 males and 7 females, aged (70 +/- 6), and sex- and age-matched 8 patients with non-demented PD, and 30 healthy parsons. Visual inspection and statistical parametric mapping (SPM) were used to investigate the regional cerebral metabolic rate of glucose (rCMRglc) and the distribution of the tracer., Results: The MMSE score of the PDD group was (27.5 +/- 2.4), (10 - 24), significantly lower than those of the non-PDD group [(27.5 +/- 2.4) (22 - 30)] and control group [(27.9 +/- 2.2) (21 - 30)] (F = 60.31, P = 0.000). There were no significant differences in Hoehn-Yahr staging and disease courses between the two PD groups (P > 0.05). Visual inspection showed that there were no significant focal hypometabolic areas in the imaging of the non-demented PD patients, while compared to the controls, the rCMRglc levels of the PDD patients decreased in bilateral superior parietal lobules (BA 7), inferior parietal lobules (BA 40, 39), superior frontal gyri (BA 6), middle frontal gyri (BA 6, 8, 9), middle temporal gyri (BA 21), cuneate lobes (BA 17, 18, 19), cingulate cortices (BA 31), lingual gyri (BA 19) basal ganglia, and thalamus. According to the severity of memory impairment and the onset of hallucination, the subtype of PDD was classified into memory impairment dominant group (MD) and hallucination dominant group (HD). The rCMRglc of MD subgroup decreased significantly in the parietotemporal association cortex, especially in the precuneus lobe. The rCMRglc of the HD subgroup decreased significantly in the occipital cortex. There were no significant differences in MMSE score and Hoehn-Yahr staging between the MD and HD groups (both P > 0.05), while the age of the HD subgroup was significantly lower, and the disease duration of the HD subgroup was significantly longer than those toe MD group (both P < 0.05)., Conclusions: (18)F-FDG/PET imaging is helpful to the diagnosis of PDD and may help investigate the potential pathophysiology of PDD.

Objective: To investigate the association between two estrogen receptor (ER) beta gene polymorphisms and Parkinson disease (PD) as well as Parkinson disease with dementia (PDD) in Chinese people., Methods: Peripheral blood samples were collected from 115 PD patients (including 26 PDD cases), 56 males and 55 females, aged 64 +/- 10, and 116 sex and age-matched healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze the polymorphism of the fifth exon RsaI and the eighth exon AluI of ERbeta gene. Te relationship between each genotype or allele frequencies and PD/PDD was analyzed using chi-square test., Results: There was no difference in the polymorphism of ERbeta genes AluI and Rsa I between the PD group and control group and between the PDD group and control group (all P > 0.05)., Conclusion: Genetic variations from AluI and RsaI digestion in ERbeta gene do not affect the risk of PD and PDD.

Objective: To explore the approach to accurately judge the degree of rotational deformity in femur shaft fracture., Methods: 110 patients with femur shaft fracture were divided into 3 groups: Group A (n = 62) with the distal end of the fractured femur at the traumatic side at neutral position so as to fix the fracture, Group B (n = 27), with both the distal and proximal ends of the fractured femur at the neutral position so as to fix the femur at an antiversion angle of 15 degrees d, and Group C (n = 21), with the degree of antiversion angle to be controlled to that on the intact side. X ray examination and CT scanning were conducted 3 days after intramedullary nailing to measure the degree of the antiversion angle on both sides. The difference between the degrees of antiversion angle at the 2 sides was considered the rotational deformity of the femur shaft after the nailing. The antiversion angles of the femurs at both sides of 11 healthy persons were measured as controls., Results: The biggest value of antiversion angle was 26 degrees , the smallest value was 8 degrees , the average value at the left side was 12.8 degrees , and the average value at the right side was 12.45, and the biggest difference between the 2 side was 7 degrees in the control group. The average antiversion angle of the femur was 14.67 degrees , the biggest value was 51 degrees , and the smallest value was -24 degrees at the traumatic side; and the average antiversion angle of the femur was 14.27 degrees , the biggest value was 40 degrees , and the smallest value was -23 degrees at the intact side in the treatment groups. 53% and 52% of the patients in Groups A and B showed a rotational deformity < 10 degrees , and 9% and 11% of them showed a rotational deformity > 20 degrees , significantly different from those in the control group (all P < 0.05). The rotational deformity was < 10 degrees in all patients of Group C, not significantly different from that of the control group (P > 0.05)., Conclusion: Clinically about half of the femur shaft fractures are fixed in the position of rotational deformity > 10 degrees after nailing. The rotational deformity of femur shaft fracture should be prevented by comparing the antiversion angle on the intact side so as to achieve more reliable adequate reduction.