Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients

neurogenetics - Evidence about the link between glucocerebrosidase (GCase) and parkinsonism is growing. Parkinsonism was described in adult type 1 Gaucher disease (GD); few case reports described...     

miR-26b通过调节Notch1信号通路参与原发性肝细胞肝癌侵袭的机制研究

目的:探讨miR-26b参与原发性肝细胞肝癌（HCC）侵袭的机制。方法:在细胞培养液中培养人肝细胞系HL-7702和HCC细胞各系Hepb-3、HuH-7、MHCC97-L、MHCC97-H。实时荧光定量PCR法（qRT-PCR）检测miR-26b的表达水平；用miR-26b mimics、miR-26b inhibitors和Notch1-siRNA分别转染HCC细胞；MTT实验检测转染后HCC细胞的活力；采用Western blot检测Notch1受体蛋白表达水平的变化；Transwell小室测定不同处理后的HCC细胞的侵袭能力。结果:人正常肝细胞系HL-7702和HCC细胞系Hepb-3、HuH-7、MHCC97-L、MHCC97-H中的miR-26b相对表达含量随其侵袭和迁移能力的升高而依次下降；抑制miR-26b的表达，Notch1受体蛋白表达明显增高，而此时HCC细胞的侵袭性显著增强；相反，上调miR-26b的表达，Notch1受体蛋白表达明显降低，而HCC细胞侵袭性显著下降；miR-26b可能通过调控Notch1信号通路调节HCC细胞侵袭性。结论:miR-26b通过负调控Notch1信号通路抑制HCC细胞侵袭能力，为HCC侵袭的机制奠定了理论基础，miR-26b可能成为HCC治疗的新靶点。     

极低/超低出生体重儿甲状腺功能减退的临床分析

目的 分析极低/超低出生体重（VLBW/ELBW）患儿甲状腺功能减退的危险因素和治疗情况。方法 选择2018年9月至2019年12月诊断为甲状腺功能减退的VLBW/ELBW患儿为病例组（n=29），按照1：3比例匹配甲状腺功能正常的VLBW/ELBW患儿作为对照组（n=87），比较两组患儿的临床特征，分析甲状腺功能与出生胎龄、出生体重的相关性及甲状腺功能减退的危险因素。结果 符合纳入标准的VLBW/ELBW患儿共162例，其中病例组29例，甲状腺功能减退发生率为17.9%。出生体重越低，甲状腺功能减退发生率越高（P < 0.05）；三碘甲状腺原氨酸（T3）、游离三碘甲状腺原氨酸（FT3）与出生胎龄呈正相关（P < 0.05），T3、游离甲状腺素（FT4）与出生体重呈正相关（P < 0.05）。小于胎龄儿、多胎、孕母≥35岁、使用多巴胺是发生甲状腺功能减退的独立危险因素（P < 0.05）。病例组中16例患儿给予左旋甲状腺素（每日5~10 μg/kg）治疗，甲状腺功能在治疗2周后恢复正常。结论 VLBW/ELBW患儿甲状腺功能减退的发生率较高，小于胎龄儿、多胎、孕母高龄、应用多巴胺是其发生甲状腺功能减退的危险因素，应用左旋甲状腺素治疗的患儿需定期随访，以保证用药剂量适宜。     

Clinicopathological analysis of immunohistochemical expression of CD47 and SIRPα in adult T-cell leukemia/lymphoma

The interaction of CD47 and signal-regulatory protein alpha (SIRPα) induces “don't eat me signal”, leading suppression of phagocytosis. This signal can affect the clinical course of malignant disease. Although CD47 and SIRPα expression are associated with clinicopathological features in several neoplasms, the investigation for adult T-cell leukemia/lymphoma (ATLL) has not been well-documented. This study aimed to declare the association between CD47 and SIRPα expression and clinicopathological features in ATLL. We performed immunostaining on 73 biopsy samples and found that CD47 is primarily expressed in tumor cells, while SIRPα is expressed in non-neoplastic stromal cells. CD47 positive cases showed significantly higher FoxP3 (P = .0232) and lower CCR4 (P = .0214). SIRPα positive cases presented significantly better overall survival than SIRPα negative cases (P = .0132). SIRPα positive cases showed significantly HLA class I (P = .0062), HLA class II (P = .0133), microenvironment PD-L1 (miPD-L1) (P = .0032), and FoxP3 (P = .0229) positivity. In univariate analysis, SIRPα expression was significantly related to prognosis (Hazard ratio [HR] 0.470; 95% confidence interval [CI] 0.253-0.870; P = .0167], although multivariate analysis did not show SIPRα as an independent prognostic factor. The expression of SIRPα on stromal cells reflects activated immune surveillance mechanism in tumor microenvironment and induce good prognosis in ATLL. More detailed studies for gene expression or genomic abnormalities will disclose clinical and biological significance of the CD47 and SIRPα in ATLL.     

High-magnitude mechanical strain inhibits the differentiation of bone-forming rat calvarial progenitor cells

Purpose: Orthodontic tooth movement occurs during the bone remodeling induced by therapeutic mechanical strain. It is important to investigate the relation between the strength of mechanical stress and bone formation activity. The aim of this study was to determine the effect of high-magnitude mechanical strain on bone formation in detail.

Materials and methods: Osteoblast-like cells isolated from fetal rat calvariae were loaded with 18% cyclic tension force (TF) for 48?h. To phenotypically investigate the effect of TF, we measured the number and the size of bone nodules stained by von Kossa technique on day 21 after cell seeding and determined the calcium content of bone nodules on day 14. Furthermore, we examined the gene expression of BMP-2, Runx2 and Msx2, which are important factors for bone nodule formation, on days 1, 4 and 7 after TF loading.

Results: The maximum bone nodule size in the control group was 1620 and 719?μm in the TF group. Furthermore, the mean number of bone nodules sized over 360?μm in the TF group was significantly decreased compared to the control group. The calcium content was also significantly decreased to 42% by TF loading. The mRNA expression of BMP-2, Runx2 and Msx2 was decreased 1 and 4 days after TF loading.

Conclusion: The differentiation of bone forming progenitor cells into bone nodule forming cells was inhibited by TF due to the decreased expression of bone formation related factors such as BMP-2, Runx2 and Msx2.     

N-terminal pro-brain natriuretic peptide predicts hospitalization for ischemic stroke in Japanese hemodialysis patients

Clinical and Experimental Nephrology - The association between N-terminal pro-brain natriuretic peptide (NT-proBNP) and stroke in Japanese hemodialysis (HD) outpatients is unclear. Therefore, in...     

Increased ratio of saturated to unsaturated C18 fatty acids in colonic adenocarcinoma: Implications for cryotherapy and lipid raft function

Mammalian fatty acid synthase (FASE) overexpression has been shown in a number of human malignancies including colonic adenocarcinoma. Since FASE synthesizes only saturated fatty acids, we hypothesized that cancer cells have a greater proportion of long-chain saturated fatty acids. We studied and found an unequivocal increase in saturated C18 fatty acid (stearic acid) in colonic adenocarcinoma compared to adjacent normal colonic mucosa. The increase is even more striking when measured as a ratio of stearic acid to the unsaturated C18 fatty acids (oleic acid and linoleic acid). This change in fatty acid composition of the cancer cells should significantly alter their physical and biological properties. The increase in relative proportion of saturated fatty acids should make the cancer cells more susceptible to cryodamage and measurement of fatty acid composition of cancer cells may help individualize the temperature for cryotherapy. Also, the lipid alterations may affect the structure and functions of lipid rafts, which may enable the cancer cells to affect signaling mechanisms such as those involved in cell growth and apoptosis. Dietary or therapeutic interventions targeting lipid rafts may thus be an option for cancer treatment.     

415例糖尿病住院病人年龄分布分析

目的:为防治糖尿病提供统计数据。方法:采用圆形分布法。最大与最小年龄差值72岁,相当于360°,每1岁相当于6°。结果:糖尿病住院病人入院高峰年龄集中时点为51岁,高峰期年龄为39岁~63岁。     

Early rapid weight gain and current overweight in relation to asthma in adolescents born with very low birth weight

Early catch-up growth and subsequent overweight are suggested to be associated with later cardiovascular diseases and later type II diabetes. However, the impact of early catch-up growth and childhood overweight on the development of asthma has been less studied, particularly in children born with very low birth weight (VLBW). A birth cohort of 74 VLBW children (birth weight < or = 1500 g) was followed from birth and investigated on asthma at 12 yr of age. Early rapid weight gain was in one way defined as an increase of weight > or =1 standard deviation score (SDS) at 6 months of corrected postnatal age. Current overweight was defined by body mass index (BMI) exceeding 21.2 and 21.7 kg/m(2), respectively, for boys and girls at 12 yr of age. Current asthma was diagnosed by a pediatrician, according to asthma ever in combination with a positive response to hypertonic saline bronchial provocation test and/or wheeze at physical examination at 12 yr old. Being overweight at 12 yr of age was associated with an increased risk for current asthma in the VLBW children [crude odds ratio (OR): 5.5, 95% confidence interval (CI): 1.3-22.2]. After adjustment for early weight gain and neonatal risk, the OR of overweight increased nearly three times (adjusted OR: 15.3, 95% CI: 2.5-90.6). Early rapid weight gain seemed to be inversely associated with current asthma (adjusted OR: 0.49 for an increase of weight equal to 1 SDS, 95% CI: 0.23-1.02, p = 0.06). In addition, early rapid weight gain was inversely associated with the magnitude of bronchial responsiveness at 12 yr (coefficient -1.15, p < 0.01). There was a strong and positive association between overweight and asthma at 12 yr of age in the VLBW children. This strong association had been reduced by early rapid weight gain, possibly via the reduction of bronchial responsiveness.     

人眼直肌Pulley系统胶原成分的实验研究

目的 研究人眼直肌Pulley系统胶原的组成成分及分布特点.方法 选取5个新鲜尸体眼眶,整体固定包埋,进行全眼眶连续冠状切片(4μm).相邻层面经苦味酸-天狼星红染色后,在偏振光显微镜下观察4条直肌Pulley及Pulley连接带(Pulley band,PB)的胶原组成及分布特点,并用MIAS-2000显微图像分析系统定量分析.结果 偏振光显微镜下可见4条直肌Pulley及PB中含有大量黄红色的I型胶原纤维及少量绿色的Ⅲ型胶原纤维.经图像分析,内直肌组Pulley中Ⅰ型胶原含量最高,内直肌-下直肌组PBⅢ型胶原含量最高,明显高于其他组,各组间差别有显著性(P＜0.05).结论 与力学特性密切相关的Ⅰ型胶原纤维及Ⅲ型胶原纤维作为眼直肌Pulley及PB胶原的主要组织成分,对眼球在功能眼位维持双眼视功能意义重大.