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Objective: To investigate all coding regions of amyotrophic lateral sclerosis (ALS)-related gene Senataxin (SETX) in sporadic amyotrophic lateral sclerosis patients of Chinese origin. Methods: From January 2010 to December 2014, the peripheral venous blood samples and clinical data were collected from 311 patients with sporadic amyotrophic lateral sclerosis (SALS) and 311 healthy controls who were of Chinese ancestry from the Department of Neurology, Chinese PLA General Hospital.Genomic DNA was extracted from peripheral venous blood of all participants using standard methods. The coding regions of SETX were amplified by polymerase chain reaction (PCR) and screened for mutations using next-generation sequencing technology. The online software SIFT and PolyPhen-2 were used to analyze the conservation of an altered amino acid and predict the potential pathogenicity of identified mutations. The SPSS 22.0 software was used to analyze the clinical feature of all participants. Results: Tenkinds of rare and one novel nonsynonymous mutations were identified and were absent in 311 controls. Twelve (3.86%) patients carried one SETX gene mutation. Five (1.61%) out of above-mentioned 12 patients carried highly pathogenic mutations including p. Pro1868Leu (c.5603G>A), p. Pro1331Leu (c.3992G>A), p. Glu756Val (c.2267T>A), p. Leu564Val (c.1690A>C), and p. Asn144Ser (c.431T>C). Patients carried SETX mutations were not different from other patients in onset age. Conclusion: Mutations in SETX are likely to be a pathogenesis for Chinese sporadic amyotrophic lateral sclerosis.

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Objective: To investigate the characteristics of cerebral metabolism associated with mild cognitive impairment (MCI) Parkinson’s disease (PD), cognitive normal PD and normal control to find a PET biomarker for the diagnose and estimate of PD-MCI. Methods: Forty-seven patients diagnosed with PD (included 15 with mild cognitive impairment) and 20 control subjects were enrolled. All the subjects were evaluated with FDG-PET and clinical scale. The statistical parametric mapping (SPM) were analyzed to determine metabolic patterns that may be useful in differentiating between the three groups. Results: SPM analysis showed that significant hypometabolism were observed in both side of front lobe, parietal lobe, left temporal lobe and left occipital lobe; in the contrast, the relative hypermetabolism had been observed in the cerebellum, vermis, hippocampus and supplement motor area (SMA) in patients with PD-MCI. PD without MCI showed hypometabolism in both side of front lob, caudate and putamen. PD-MCI showed that the significant hypermetabolism were in the insular and cerebellum while hypometabolism were in the both side of occipital compared to PD without MCI. Conclusion: A voxel-by-voxel based SPM method i. e. SPM8 analysis by PET scan is an effective way to analysis the FDG uptake pattern of PD patients. The hypermetabolism in the insula and cerebellum and hypometabolism in the both side of occipital may be a biomarker for make a diagnosis of PD-MCI.

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Objective: To explore the neuroimaging characteristics associated with the presence of patent foramen ovale(PFO) for patients with cryptogenic stroke. Methods: We retrospectively collected the clinical and imaging data of cryptogenic stroke patients with PFO and without PFO from Henan Province People’s Hospital from January 1, 2013 to June 30, 2017. Lesion patterns and pertinent vascular territory were compared between the two groups. Multivariate logistic regression analysis was used to explore the independent predictors for the presence of PFO. Results: A total of 54 cryptogenic stroke patients with PFO and 50 cases without PFO were recruited. Compared with PFO(-) stroke group, more patients in PFO(+ ) stroke group had migraine(P=0.036), and patients in PFO(+ ) stroke group had higher Risk of Paradoxical Embolism(RoPE) score(P=0.030). The lesion pattern of PFO(+ ) stroke was more frequently observed as multiple lesions in multicirculatory (P=0.035), and infarcts were more likely to be distributed in the vertebrobasilar artery territory (P=0.041); the most frequently involved vessel was the posterior cerebral artery region (P=0.006). More patients with PFO(+ ) stroke had old silent stroke lesion(P=0.021). On multivariate analysis, infarction distributed in the posterior cerebral artery region(OR=4.292, 95% CI 1.469-12.543, P=0.008), silent stroke lesion (OR=6.688, 95% CI 1.277-35.029, P=0.024), and high RoPE score (OR=1.393, 95% CI 1.026-1.893, P=0.034) were independent parameters that could predict the presence of PFO. Conclusions: Multiple lesions in multicirculatory and the posterior predominance are neuroimaging characteristics of cryptogenic stroke with PFO. Infarction distributed in the posterior cerebral artery region, silent stroke lesion and high RoPE score are independent predictors of the presence of PFO.

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Objective: To explore the prevalence and clinical characteristics of postprandial hypotension(PPH) in patients with essential hypertension and coronary heart disease. Methods: A total of 197 patients with essential hypertension and coronary heart disease, who had been treated in the First Department of Cardiology of the Second Hospital of Hebei Medical University from December, 2013 to December, 2014 were included. The patients' blood pressure before breakfast, lunch and dinner and 30, 60, 90, 120 minutes after the meal were monitored. Subjects were classified into PPH group (n=37) and non-PPH group (NPPH, n=160) according to postprandial decrease in systolic blood pressure, to explore the clinical characteristics and related factors and the major adverse cardiac and cerebral vascular events of PPH. Results: Among 197 patients, 37 cases (18.8%) showed at least once postprandial decline in systolic blood pressure greater than and equal to 20 mmHg. The incidence of PPH after breakfast and dinner were higher than lunch (P<0.05). There was no significant difference in the incidence of PPH among different age groups, among patients accompanied with different diseases, and among patients with different dining position (all P>0.05). According to the baseline systolic blood pressure, patients can be divided into 4 groups(<120 mmHg, 120-129 mmHg, 130-139 mmHg, >140 mmHg), the higher the level of the baseline systolic blood pressure was, the higher the incidence of PPH was. And the incidence of major adverse cardiac and cerebral vascular events in patients during hospitalization were increased by PPH. Conclusions: The prevalence of PPH in the patients with essential hypertension and coronary heart disease is 18.8%. The incidence of PPH after breakfast and dinner is higher than lunch. The baseline systolic blood pressure is considered to be the risk factor of PPH. And PPH could lead to an increase of the incidence of major adverse cardiac and cerebral vascular events.

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Objective: To evaluate the efficacy and adverse reactions of licartin with repeated administration in treatment of hepatocellular carcinoma (HCC) patients after liver transplantation. Methods: Clinical data of 60 patients after liver transplantation with licartin in Tianjin First Central Hospital from December 2012 to December 2016 were collected and analyzed.The patients were divided into A group(received single therapy, n=45)and B group(received repeated therapy with equal or greater than twice, n=15). The results of blood routine examination, liver function and thyroid function between the two groups(1 week before treatment, 2, 4 and 8 weeks after treatment) were compared. Survival time and adverse reactions were statistically analyzed. Results: There was no significant statistical difference on age, gender and AFP between the two groups(all P>0.05). Compared to baseline level 1 week before treatment, platelet levels were reduced 2 weeks after treatment, and gradually recovered to baseline level at 8 weeks(F=50.42 and 61.71, all P<0.05); 4 weeks after treatment, the alanine aminotransferase and total bilirubin levels were increased to a certain extent and recovered to baseline at 8 weeks(F=5.42 and 3.39, 8.95 and 6.84, all P<0.05). Thyroid function injury ratio for the two groups were 8.9% and 8.6%. No serious adverse reactions occurred, and mild adverse reactions could be tolerated with spontaneous remission or symptomatic treatment. There was no significant statistical difference between the two groups(χ2=0.459-1.0, all P>0.05). The median survival time was 34.0 months for A group, the 6-, 12-, 18-, 24-, 36- and 48-month overall survival rates for the two groups were 93.3%, 86.6%, 73.3%, 62.2%, 48.9%, 33.3% and 100%, 93.3%, 86.7%, 80.0%, 66.7%, 66.7%, respectively (χ2=4.324, P=0.038). HCC in situ recurrence rate for the two groups were 15.6% and 13.3%(χ2=1.0, P=0.601). The incidence of hepatocellular metastasis for the two groups were 22.2% and 20.0%(χ2=1.0, P=0.585). Conclusion: Repeated licartin administration could prevent HCC recurrence and prolong survival with satisfactory safety.

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Objective: To analyze the long-term results and the influence factors of spontaneous correction of unfused thoracic curves in anterior and posterior selective fusions in Lenke type 5C adolescent idiopathic scoliosis (AIS). Methods: From January 2005 to December 2011, 89 Lenke type 5C AIS patients with a minimum of 5-year follow-up who underwent thoracolumbar/lumbar (TL/L) selective fusion in Spine Surgery of Nanjing Drum Tower Hospital were reviewed.Forty-six patients underwent anterior fusion (anterior group), while 46 underwent posterior fusion (posterior group). The following radiological parameters were measured and analyzed at pre-operation, post-operation, and latest follow-up: curve magnitude of primary thoracolumbar/lumbar and secondary thoracic curve, trunk shift, thoracic apical vertebral translation, upper instrumented vertebra tilt, thoracic kyphosis, proximal junctional angle, sagittal vertical axis. Independent sample t test was used to compare the above parameters between the two groups. Results: Compared with those in posterior group, anterior group were found with less fusion levels (5.4±0.6 vs 5.9±0.8, t=3.318, P=0.001) and longer operation time[(276±28)min vs (186±36)min, t=13.101, P<0.001]. Immediately after surgery, the spinal deformity was significantly corrected in the two groups. The mean spontaneous correction rates of the minor curve were 50%±21% and 56%±20% in anterior and posterior groups, respectively (t=1.489, P=0.140). After a mean follow-up of (6.8±1.7) years in anterior group and (6.3±1.3) years in posterior group, the spontaneous correction rate of minor curve was maintained at 46%±22% and 49%±19%, respectively (t=0.703, P=0.484), with no significant correction loss. Other radiographic parameters were also stably maintained. According to the correlation analysis, the spontaneous correction rate was significantly correlated with upper instrumented vertebra (UIV) tilt in both groups (anterior: r=-0.526, posterior: r=-0.399, both P<0.05). Conclusions: Both anterior and posterior selective fusion can achieve satisfactory spontaneous correction of unfused thoracic curves in Lenke type 5C AIS, with no significant difference between the two surgical approaches. UIV tilt is a key influence factor of spontaneous correction of thoracic curves.

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Objective: To evaluate the clinical outcome of repairing donor site of foot after improved toe-to-finger reconstruction utilizing periosteal perforator bone-skin flap of proximal anterior tibial artery. Methods: Twelve patients of toe defect after reconstruction were repaired from March, 2015 to June, 2017 utilizing periosteal perforator bone-skin flap of proximal anterior tibial artery in the Department of Hand and Foot Microsurgery of Xin'an Hospital, Dongguan City.Of which, there were 7 cases of great toe defect with fibular side of phalanx ungual and skin, 5 cases of second toe defect with proximal interphalangeal joints and the partial bone accompanied the great toe defect.Double bone flaps of one pedicles were used to repair first and second phalanx defect in 5 cases.The skin injured area: 5.5 cm×2.5 cm to 6.5 cm×10.0 cm. Bone defect size of great and second toe were 1.5 cm×1.0 cm×0.8 cm to 1.7 cm×1.0 cm×1.0 cm and 2.5 cm×1.0 cm×1.0 cm to 4.0 cm×1.0 cm×1.0 cm, respectively.The flap size ranged from 6.0 cm×3.0 cm to 6.5 cm×12.0 cm, and the bone flap size ranged from 1.5 cm×1.0 cm×0.8cm to 1.7 cm×1.0 cm×1.0 cm(great toe) and 2.0 cm×1.0 cm×1.0 cm to 3.5 cm×1.0 cm×1.0 cm(second toe). The wound of donor site of the leg was directly combined or local skin transfer sutured with 8 cases, skin-grafting in 4 cases. Results: All the bone-skin flaps survived.After 6-27 months of follow-up, the great toe flaps were found with normal color, good texture and moderate thickness, the two-point discrimination was 7-10 mm. The donor site of the leg showed little influence with normal function.No pain and discomfort in the foot were recorded, and the patients walked well.The healing time of bone flap was from 1.5 to 4 months, with an average of 2.5 months.Using the Maryland Foot Score, 5 cases of 7 feet got excellent and 2 cases of 2 feet got good result in the great toe group (7 cases of 9 feet), the good rate was 100%.Three cases got excellent and two cases got good result in the combined reconstruction group (5 cases), the good rate was 100%. Conclusion: Repairing donor site of foot after improved toe-to-finger reconstruction utilizing periosteal perforator bone-skin flap of proximal anterior tibial artery can also repair bone and skin defect of the great and the second toe, keep the great and the second toe, and restore the appearance and function of the first and the second toe at utmost.

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Objective: To evaluate the effectiveness of cement augmentation on the osteolytic lesion in patients with vertebral metastasis. Methods: A total of consecutive 132 patients with 268 vertebral metastatic lesions treated with PVP from January 2008 to December 2016 in Zhongda Hospital were enrolled in this study. Retrospective analysis of preoperative, postoperative 3 days, 3 months, 6 months, 12 months and ≥ 18 months imaging data on CT, the local control and progression of the tumor were evaluated by MDA response criteria. The local control rates were compared between the groups with the different rate of cement filling by Chi2-test. Results: Vertebroplasty procedures were performed successfully in all 268 vertebrae under DSA guidance, and the mean volume of PMMA injected in each vertebra was 0.7-8.5(3.9±1.5)ml.The rate of local control at 3 months, 6 months, 12 months and ≥18 months after PVP was respectively 98.9%, 95.1%, 91.8%, and 85.2%, the difference was statistically significant(all P<0.05). The local control rate showed a statistically significant relationship to the groups with the rate of cement filling at 6 months, 12 months and ≥18 months after PVP, but there was no statistical difference at postoperative 3 months. The rate of local control was higher in 68 patients with lung or gastrointestinal cancer than in 17 patients with liver or kidney cancer at 3 months, 6 months and 12 months, the difference was statistically significant (P<0.05). Conclusion: Cement augmentation has a local anti-tumor effect on vertebral osteolytic metastatic lesion, and the anti-tumor effect will decrease as the follow-up time extended.

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Objective: To evaluate the use of virtual planning and 3D printing modeling in mandibular reconstruction and compare the operation time and surgical outcome of this technique with conventional method. Methods: Between June 2013 and June 2017, A total of 18 patients underwent the mandibular reconstruction with fibula free flap in the Affiliated Hospital of Qingdao University.Among 18 patients, there were 11 males and 7 females with an average age of 36.5 years (21-73 years). Nine patients underwent vascularized fibula flap mandibular reconstruction using virtual planning and 3D printing modeling.Titanium plates were pre-bent using the models and cutting guides which were used for osteotomies.Another 9 patients who underwent mandibular reconstruction using fibula flap without aid of virtual planning and 3D printing models were selected as control group. The operation time was recorded and compared in two groups. Accuracy of reconstruction was measured by superimposing the preoperative image onto the postoperative image of mandible. The selected bony landmark, distance and angle were measured. Results: The mean total operation time were 4.7-6.2(5.5±0.5) h in computer-assisted group and 5.6-7.5(6.6±0.7) h in conventional group, respectively. The operation time was shorter in computer-assisted group. The difference between the preoperative and postoperative intercondylar distances, intergonial angle distances, anteroposterior distances were(2.6±1.4)vs(4.4±1.6)mm, (2.9±1.2)vs(4.7±1.7)mm, (4.2±1.4) vs(5.9±1.8)mm in the computer-assisted and conventional group, respectively. The differences between the preoperative and postoperative mandible were smaller in the computer-assisted group. Conclusions: Virtual planning and 3D printing modeling have the potential to increase mandibular reconstruction accuracy and reduce operation time. We believe that this technology for mandibular reconstruction in selected patients can significantly improve the quality of reconstruction.

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Objective:Neisseria gonorrhoeae in female cervix sample was detected by dry chemical enzymatic method and culture method. The detection effects of two detection methods were analyzed to provide reference for clinical detection. At the same time, strains were separated and identified to evaluate reliability of different methods. Methods: During October 2015 to December 2017, 8 860 samples of female cervix from the Third Affiliated Hospital of Zhengzhou University and Henan Provincial Peoples Hospital were detected by dry chemical enzymatic method and culture method. Because of the possible leak detection by culture method, the inconsistent results were supplemented by real-time PCR assay. The data were analyzed by SPSS 19.0. Fifteen strains of external quality assessment of Neisseria gonorrhoeae identification and validation during 2015 to 2017 years were identified by latex chromatography, culture method, dry chemical enzyme method and PCR- fluorescent probe method. Results: The positive rates of dry chemical enzymatic method and culture method for detection of Neisseria gonorrhoeae were 0.88% (78/8 860) and 0.41% (36/8 860), respectively. Among these, 26 samples were tested positive by dry chemical enzymatic method which were consistent with real-time PCR assay. Meanwhile, the culture method was negative. Dry chemistry enzyme method external quality assessment results of 3 years were accurate. Conclusion: The positive rate of dry chemical enzymatic method was markedly higher than that of culture method (P<0.05). The dry chemical enzymatic method, while exhibiting a high specificity, had high detection rate compared to culture method. And external quality assessment results are accurate. The clinical coincidence rate of dry chemical enzymatic detection was higher.