Neurofibromatosis type 1 is a term of Von Recklinghausenan.It is an autosomal dominant inherited disease which derived by neural crest cell.Prevalence of this disease is 1/3000 1/3500 and is a disease with the highest mutation rate.The pathogenesis of neurofibromatosis type 1 is associated with the deficiency of NF1 gene.Recently,the genetics and genomics research of neurofibromatosis make a great progress.With the development of gene linkage and position cloning technology,the gene sequence of neurofibromatosis type 1 has been found.Recent research of genetics and genomics of NF1 and the structure and function,abnormal expression,the relation of genotype and phenotype,the mutation sensitivity domain of NF1 gene were reviewed.

Objective To investigate the relationship between exposure intensity and illumination time of blue light and replicative senescence of rat retinal pigment epithelial (RPE) ceils.Methods Thirty-six 12-14 weeks Wistar rats were kept in the cage with a blue-light bulb [(450±10) nm],and were randomly divided into four groups (no light,nature light,500 lx light and 1000 lx light illumination),each has nine rats.The rats in each group were further divided into three subgroups according to illumination time (one month,two months or three months).Eyeballs were collected after intraperitoneal injection of 10% chloral hydrate.The right eye of each rat was embedded in paraffin and sectioned for hematoxylin-eosin (HE)staining,while frozen sections of the left eye were stained for the senescence-associated β-galactosidase (SA-β-Gal).The data were analyzed by SPSS11.5 statistical software.Results The amounts of SA-β-Gal positive RPE cells were significantly different between all groups under the same illumination time 17 (P=0.000),and between all subgroups of different illumination time with same exposure intensity (P＜0.01)except for the control group (no light).Conclusion Blue-light can induce replicative senescence in rat RPE cells in an intensity and time-dependent manner.

Objective To investigate the efficacy of sorafenib alone or combination with transarterial chemoembolization(TACE)and percutaneous local cryotherapy(PLCT)for advanced hepatocellular carcinoma patients without operation opportunity. Methods Sixty-four advanced hepatocellular carcinoma patients were selected as our subjects,who were underwent treatment of sorafenib alone or combination with TACE and PLCT. Thirty-two cases with sorafenib therapy were served as sorafenib group and another 32 cases with sorafenib in combination with transarterial chemoembolization and PLCT were served as combination group. All patients were followed up for 6 - 32 months. The treatment efficacy and tumor development were recorded. Results All surgeries of the patients were succeed and no death or serious operation complications occurred. Of 64 patients, 11 were achieved a complete remission( CR),31 cases with partial remission( PR),14 cases with stable development(SD),and 8 cases with progressive disease(PD). In the sorafenib group,3 cases were with CR,11 patients with PR,12 with SD,and 6 patients with PD. In the combination group,8 patients were with CR,20 patients with PR,2 patients with SD and 2 patients with PD,and the difference was significant between the two groups(χ2 = 14. 028,P = 0. 003). The median periods to tumor progression were 20 and 53 weeks in the sorafenib group and the combination group,and the difference was significant( χ2 = 14. 773,P = 0. 000). Conclusion For hepatocellular carcinoma patients without operation opportunity,sorafenib combined with TACE and PLCT can increase the tumor remission rate and prolong the periods to tumor progression in patients with hepatocellular carcinoma.

Objective In the early life period when eyes grow rapidly,visual experience can play an important role in axial growth and refractive development. For instance, depriving the eye of form vision during infancy will accelerate axial growth, resulting in substantial amounts of myopia, called form deprivation myopia (FDM). Similarly, imposing the eye with a negative lens produces compensating myopic growth in many species, called defocus induced myopia (DIM) . As one of the important visual experiences,color vision and its effects on eye growth deserve to be investigated. The purpose of this study was to investigate the effect of 530 nm monochromatic light and establish an innovative model of myopia in guinea pig by exposing to this monochromatic light. Methods Twenty male guinea pigs at 2 weeks old were randomly assigned to two groups (n = 10) . The experimental group was raised under the condition of 330 nm monochromatic light illumination. The control one was bred under white light illumination with 5000 k color temperature. These guinea pigs were raised in a specially designed cage. The light source was provided by specially made LEDs (green: peak value 530 nm and half bandwidth 30 nm; white: color temperature 5000 K) . The illumination parameters of the two groups were identical and the light quantum number was 3 x 10~(-4)μmol·cm~(-2)·s~(-1) . Through measuring,the irradiance value was 0.150 mW·cm~(-2) for green light and 0.247 mW·cm~(-2) for white light approximately. All animals were kept under a 12/12 h light/dark cycle (light: 8 a.m. - 8 p.m. ) ,in the temperature of 22℃ - 26℃ and a relative humidity of 55% -65% . Both groups underwent biometric measurement including refraction,corneal curvature and axial length,etc. before and after twelve weeks treatment. The refraction was examined using a streak rednoscope and trial lenses in a dark room one hour after topically administering a cycloplegic eye drop. The radius of comeal curvature was measured with a keratometer (Topcon OM-4, Japan) and axial components was measured by A-scan ultrasonagraphy ( Opticon Hiscan A/B).Repeated measurements were undertaken. Only the right eye's parameters of each guinea pig were used for analysis. Unpaired (-tests were used in all comparisons between the two groups of eyes with a statistical analysis software (Stata, version 7.0) . Results Before treatment, the refraction of experimental group was 4.6 ± 0.59 D.and that of the control group was 4.63 ± 0.48 D. The axial and vitreous body length was 7.48 ±0.11 mm and 3.16 ±0.07 mm in the experimental group,respectively,and 7.55 ±0.16 mm,3.21 ±0.09 mm in the control. The differences between the biometric parameters of the two groups including refraction, comeal curvature and axial components were not significant ( P > 0.05) . However,after a twelve-week exposure, the variation of refraction in the experimental group was -3.125 ± 0.76 D,and - 1.075 ± 0.71 D was observed in the control group. There was a 2.0 D myopia in the experimental group compared with the control. Axial length grew 0.98 ± 0.13 mm in the experimental group and 0.77 ± 0.22 mm in the control. Vitreous body extended to 0.33 ± 0.14 mm and 0.13 ± 0.14 mm in the two groups, respectively. The refraction of the experimental group shifted more towards myopia ( P < 0.0001) accompanied with a more accelerated speed of axial growth and vitreous body's extension ( P < 0.05) compared with that of the control group. There were no significant differences in the radius of comeal curvature, the depth of anterior chamber and the lens thickness between the eyes of the two groups at the end of the experiment ( P > 0.05) . Conclusion The 530 run monochromatic light can accelerate the prolongation of axial length and vitreous body inducing axial myopia in guinea pigs.

Objective To evaluate the surgical effect of the surgical removal of both medial temporal lobe lesion and hippocampus amygdala for treating epilepsy. Methods Retrospectively analyzed 18 cases of epilepsy induced by the medial temporal lobe lesion and their hippocampal epileptic discharge was recorded by the deep electrode. Removed both medial temporal lobe lesion and hippocampus amygdala through medial temporal gyrus by modified pterional approach. The lesion had been totally removed in all of these 18 cases in naked eye. Evaluated the effect of surgery for epilepsy by Engel grading scale. Results These cases were followed up for average 2.8 years. Engel Ⅰ for 13 cases, Engel Ⅱ for 4 cases, Engel Ⅲ for 1 cases, Engel Ⅳ for none after operation. But there were lateral 1/4 quadrantanopsia in 2 cases, recent memory decreasing in 3 cases and none of death or any other complication. Conclusion Surgical removal of both medial temporal lobe lesion and hippocampus amygdala is a safe and effective method for treating epilepsy with less complication.

Objective To explore the effects of minimally invasive removal of intracranial hematoma on blood-brain barrier (BBB) index, serum myelin basic protein (MBP) and activity of daily living (ADL) in hypertensive patients with cerebral hemorrhage.Methods Through observing 30cases operated within 3.0 hours, 32 case operated between 3. 1-8. 0 hours, 28 cases operated between 8. 1 to 24.0 hours and 22 cases operated over 24 hours, the changes of BBB index, serum MBP and ADL were analyzed. Results The BBB index and serum MBP were significantly lower in patients operated within 8. 0 hours than in patients operated over 8. 1 hours [≤3.0 hours group:(6.57±0.69)×10-3 and (3. 12±0.40)μg/L;3. 1-8.0 hours group: (7. 37±1.29)×10-3 and (3.25±0.60)μg/L;8. 1-2.0 hours group: ( 12. 02± 1.51 ) × 10 3 and (4. 60±0. 48)μg/L;over 24.0 hours group: ( 14. 68±2.07)×10-3 and (5.88±0.64)μg/L,Q＞13.8,P＜0. 05]. And the ADL was lower in patients operated within 8. 0 hours than in patients operated over 8. 1 hours [≤3.0 hours group: (2. 60± 1.07)scores; 3.1-8.0 hours group: (3. 06±0. 91 )scores;8. 1-24.0 hours group: (4.00±0.67) scores;over 24.0 hours group:(3.68±1.32)scores,Q＞3. 1,P＜0.05].Conclusions The minimally invasive surgery of intracranial hematoma within 8.0 hours can mitigate the cytotoxicity-damaged BBB so as to lighten brain edema and improve the patients quality of life.

Objective:To discuss the characteristics of ultrasound diagnosis of optic disc capillary hemangioma.Methods:The study analyzed retrospectively 7 cases of optic disc capillary hemangioma diagnosed in the Beijing Tongren Hospital from 2015 to 2018. The size, morphology, internal echo, and secondary changes of the lesion were analyzed during ultrasound examination.Color Doppler flow imaging was used to check the blood flow in the lesion.Results:Pre-optic disc occupying lesions could be detected in the ultrasound images of the 7 cases. Lesion size: average base diameters (5.39±1.90)mm×(4.79±1.28)mm, average height (3.61±1.37)mm. Lesion morphology: 5 cases were round, and 2 cases were irregular. Echo within the lesion: 3 cases had medium echo inside the lesion, and 4 cases had high echo inside the lesion. Internal echo characteristics: 5 cases had uniform echo, and 2 cases had uneven echo. Secondary changes: 6 cases had secondary retinal detachment and vitreous opacity, and 1 cases was accompanied by retinal hemangioma in other parts. In all cases, blood flow signals could be detected inside the space-occupying lesions, which were in the form of branches, stripes or spots, and the blood flow spectrum showed a parallel spectrum of arteries and veins.Conclusions:Ultrasound examination of optic disc capillary hemangioma has certain characteristics, which can provide a valuable follow-up basis for clinical diagnosis.

Purpose: Cancer has become a significant major public health concern, making the discovery of new cancer markers or therapeutic targets exceptionally important. Elevated expression of tumor necrosis factor receptor superfamily member 12A (TNFRSF12A) expression has been observed in certain types of cancer. This project aims to investigate the function of TNFRSF12A in tumors and the underlying mechanisms. Materials and Methods: Various websites were utilized for conducting the bioinformatics analysis. Tumor cell lines with stable knockdown or overexpression of TNFRSF12A were established for cell phenotyping experiments and subcutaneous tumorigenesis in BALB/c mice. RNA-seq was employed to investigate the mechanism of TNFRSF12A. Results: TNFRSF12A was upregulated in the majority of cancers and associated with a poor prognosis. Knockdown TNFRSF12A hindered the colorectal cancer progression, while overexpression facilitated malignancy both in vitro and in vivo. TNFRSF12A overexpression led to increased nuclear factor кB (NF-κB) signaling and significant upregulation of baculoviral IAP repeat containing 3 (BIRC3), a transcription target of the NF-κB member RELA, and it was experimentally confirmed to be a critical downstream factor of TNFRSF12A. Therefore, we speculated the existence of a TNFRSF12A/RELA/BIRC3 regulatory axis in colorectal cancer. Conclusion TNFRSF12A is upregulated in various cancer types and associated with a poor prognosis. In colorectal cancer, elevated TNFRSF12A expression promotes tumor growth, potentially through the TNFRSF12A/RELA/BIRC3 regulatory axis.

Purpose: Cancer has become a significant major public health concern, making the discovery of new cancer markers or therapeutic targets exceptionally important. Elevated expression of tumor necrosis factor receptor superfamily member 12A (TNFRSF12A) expression has been observed in certain types of cancer. This project aims to investigate the function of TNFRSF12A in tumors and the underlying mechanisms. Materials and Methods: Various websites were utilized for conducting the bioinformatics analysis. Tumor cell lines with stable knockdown or overexpression of TNFRSF12A were established for cell phenotyping experiments and subcutaneous tumorigenesis in BALB/c mice. RNA-seq was employed to investigate the mechanism of TNFRSF12A. Results: TNFRSF12A was upregulated in the majority of cancers and associated with a poor prognosis. Knockdown TNFRSF12A hindered the colorectal cancer progression, while overexpression facilitated malignancy both in vitro and in vivo. TNFRSF12A overexpression led to increased nuclear factor кB (NF-κB) signaling and significant upregulation of baculoviral IAP repeat containing 3 (BIRC3), a transcription target of the NF-κB member RELA, and it was experimentally confirmed to be a critical downstream factor of TNFRSF12A. Therefore, we speculated the existence of a TNFRSF12A/RELA/BIRC3 regulatory axis in colorectal cancer. Conclusion TNFRSF12A is upregulated in various cancer types and associated with a poor prognosis. In colorectal cancer, elevated TNFRSF12A expression promotes tumor growth, potentially through the TNFRSF12A/RELA/BIRC3 regulatory axis.

Purpose: Cancer has become a significant major public health concern, making the discovery of new cancer markers or therapeutic targets exceptionally important. Elevated expression of tumor necrosis factor receptor superfamily member 12A (TNFRSF12A) expression has been observed in certain types of cancer. This project aims to investigate the function of TNFRSF12A in tumors and the underlying mechanisms. Materials and Methods: Various websites were utilized for conducting the bioinformatics analysis. Tumor cell lines with stable knockdown or overexpression of TNFRSF12A were established for cell phenotyping experiments and subcutaneous tumorigenesis in BALB/c mice. RNA-seq was employed to investigate the mechanism of TNFRSF12A. Results: TNFRSF12A was upregulated in the majority of cancers and associated with a poor prognosis. Knockdown TNFRSF12A hindered the colorectal cancer progression, while overexpression facilitated malignancy both in vitro and in vivo. TNFRSF12A overexpression led to increased nuclear factor кB (NF-κB) signaling and significant upregulation of baculoviral IAP repeat containing 3 (BIRC3), a transcription target of the NF-κB member RELA, and it was experimentally confirmed to be a critical downstream factor of TNFRSF12A. Therefore, we speculated the existence of a TNFRSF12A/RELA/BIRC3 regulatory axis in colorectal cancer. Conclusion TNFRSF12A is upregulated in various cancer types and associated with a poor prognosis. In colorectal cancer, elevated TNFRSF12A expression promotes tumor growth, potentially through the TNFRSF12A/RELA/BIRC3 regulatory axis.