Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene

Background

GM2‐gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β‐hexosaminidase A (Hex‐A) and β‐hexosaminidase B (Hex‐B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency.

Objectives

To characterize the phenotype and genotype of GM2‐gangliosidosis disease in an affected dog.

Animals

One affected Shiba Inu and a clinically healthy dog.

Methods

Clinical and neurologic evaluation, brain magnetic resonance imaging (MRI), assays of lysosomal enzyme activities, and sequencing of all coding regions of HEXA, HEXB, and GM2A genes.

Results

A 14‐month‐old, female Shiba Inu presented with clinical signs resembling GM2‐gangliosidosis in humans and GM1‐gangliosidosis in the Shiba Inu. Magnetic resonance imaging (MRI) of the dog's brain indicated neurodegenerative disease, and evaluation of cerebrospinal fluid (CSF) identified storage granules in leukocytes. Lysosomal enzyme assays of plasma and leukocytes showed deficiencies of Hex‐A and Hex‐B activities in both tissues. Genetic analysis identified a homozygous, 3‐base pair deletion in the HEXB gene (c.618‐620delCCT).

Conclusions and Clinical Importance

Clinical, biochemical, and molecular features are characterized in a Shiba Inu with GM2‐gangliosidosis. The deletion of 3 adjacent base pairs in HEXB predicts the loss of a leucine residue at amino acid position 207 (p.Leu207del) supporting the hypothesis that GM2‐gangliosidosis seen in this dog is the Sandhoff type. Because GM1‐gangliosidosis also exists in this breed with almost identical clinical signs, genetic testing for both GM1‐ and GM2‐gangliosidosis should be considered to make a definitive diagnosis.     

一种基于硼氢化钠的新型储氢材料研究

硼氢化钠的水解产物是一种新的储氢材料，其良好的可逆储氢能力在5MPa氢气压力真空条件下3分钟后在室温下吸收氢150。根据报道，它已被证明，这两种改变的催化剂NaBH4水解和添加催化剂直接插入接口是两个非常有效进一步提高接口的储氢容量。对hpsb-y2o3脱氢TiO2分别掺杂均达到重量2.4%和重量4.6%。重要的是对hpsb-y2o3可逆的脱氢能力不下降后成功———超循环。相比之下，对hpsb-ceo2可逆脱氢高达到重量5.9%，在室温下5分钟后3MPa氢气压力150氢吸附。     

Effect of L-lysine Added in Diluent on the Fresh Semen Quality of Dorper Sheep

In order to explore the effect of different L-lysine levels added in semen dilution on the fresh Dorper sheep quality stored at liquid state,3 health Dorper ram were used to collect semen which were equal-packaged and added to solution containing different levels (0,0.1,0.2,0.3,0.4 and 0.5 g) L-lysine in 120 mL diluent and at 0,6,24,30,48,54,72 and 78 h,the sperm motility,membrane integrity and acrosome integrity were detected.The results showed that the sperm motility in groups added 0,0.1 and 0.2 g L-lysine were higher than other groups,and that in 0.4 and 0.5 g L-lysine groups decreased faster than other groups;The sperm motility in 0.5 g L-lysine group reduced to 0 at 30 h,and it reduced to 0 at 48 h in the group added 0.4 g L-lysine;The effective survival time and survival index in the group added 0.1 g L-lysine was higher than other groups (P< 0.05);The membrane integrity of 0.1 g group was the highest,that had no significant difference with control group from 0 to 54 h (P >0.05),while after 72 h the two groups had significant differences (P< 0.05).The membrane integrity in 0.4 and 0.5 g groups were the worst,and that was significant different with other groups (P< 0.05);The acrosome integrity of 0.1 g group was the highest which had no significant difference with control group (P >0.05),0.4 and 0.5 g groups were the worst,the difference between them was not significant (P >0.05),while was extremely significant difference with other groups except for 0 and 6 h (P< 0.01).The results suggested that dilution added a high concentration of L-lysine could inhibit sperm quality,when the count of L-lysine was more than 0.2 g,sperm quality was significantly decreased,adding 0.1 g L-lysine could improve Dorper sheep fresh sperm quality stored at liquid state.     

南方地区高水分玉米安全度夏技术探讨

根据水分的高低,对新收购的高水分玉米分别储存在露天囤和高大平房仓中,将露天囤里的玉米通风降水后转入高大平房仓储存,再对玉米通风降温,并采取仓房密封、悬挂防晒网、空调控温等配套措施控制粮温,期间采取磷化铝多次补药熏蒸杀灭粮堆内害虫及霉菌,使玉米安全度夏。     

无瓣海桑种子特征及不同贮藏环境下萌发特性的研究

种子的萌发除了与自身的生理结构、萌发时外界条件有关外,不同的贮藏条件和时间处理对种子萌发也有影响.本实验以无瓣海桑种子为研究对象,通过无瓣海桑种子的基本特征及不同贮藏环境(常温、常温干燥、-4℃、-70℃分别对应Ⅰ、Ⅱ、Ⅲ、Ⅳ)和时间(15,30,45,60,90 d)下其种子萌发特性的分析发现:径级对无瓣海桑的果重和种子的粒数均有显著影响;低温处理可显著缩短种子的萌发时间,同时有助于保持无瓣海桑的种子活性;无瓣海桑种子的活力会随着贮藏时间的增加而下降,因此不适宜长期贮藏,但短期贮藏时低温干燥贮藏可较好地保持其种子活力.     

初探粮食仓储的管理预案

在现代新的形势下,粮食仓储的管理工作显然是非常重要的,对于保障粮食安全是非常重要的,因为不管是从哪方面考虑,它都占据着一个至关重要的位置。所以,做好粮食工作的关键之一就是要加强对粮食仓储的管理。     

传统平房仓技术改造双低储粮试验

通过在传统平房仓实施保温、密闭和制冷技术改造的同时,对仓内存储的成品粮实施绿色低氧保管。解决了成品粮易变质、难度夏的保管难题,确保储粮安全。     

Root zone temperature alters storage root formation and growth of sweetpotato

Large mounds amended with plant residues are a common cultivation method for sweetpotato (Ipomoea batatas) in the western parts of the Papua New Guinea highlands, with a suggested benefit of elevated root zone temperature (RZT) from decomposition. This study aimed to evaluate whether RZT affects the formation and growth of sweetpotato storage roots. Experiments evaluated the effects of a constant elevated RZT on the Beauregard cultivar and of a short‐term increase in RZT on the Beauregard and Northern Star cultivars. Plants were grown in 18‐L pots divided into a control compartment (constant RZT at 20°C) and a treated compartment (RZT at 30, 40 or 50°C). Constant elevated RZT was maintained until harvest, while short‐term increase in RZT occurred in weeks 2 and 3 only. Constant elevated RZT did not affect the total number of storage roots, but RZT of 30°C and above reduced the dry‐biomass of storage roots. The short‐term increase in RZT did not alter the total number or dry‐biomass of storage roots in Beauregard, while both of these attributes were reduced at RZT of 40°C or above in Northern Star. Elevated RZT inhibited dry‐biomass accumulation of storage root, with a more pronounced impact at constant elevated RZT. These results demonstrate that any benefits of the mound culture on sweetpotato yield production do not arise through the influence of temperature elevation.     

不同品种桃果冷链物流特性差异性研究

为了探讨不同品种桃果冷链物流特性的差异化问题,从而为其贮运技术的优化提供参考依据,分别以采自山东省蒙阴县岱崮镇的‘仓方早生’、‘春美’、‘中油4号’和‘锦香’黄桃果实为试材,对不同品种桃果实在长途(山东蒙阴至新加坡)冷链物流期间的预冷特性、蓄冷特性、货架期及其品质的变化情况进行了观察,并对其果心温度在冷链物流期间的变化情况进行了全程跟踪检测。结果表明:在整个冷链物流期间,‘中油4号’和‘春美’的果心温度一直低于其余2个品种,说明其均有较好的预冷和蓄冷性能;在山东冷库温度设为0℃、预冷40 h的条件下,不同品种桃果果心温度方能降低至2.5~3.0℃,说明产区桃果贮运企业的冷库制冷能力还有待提高,或需配置专门的预冷设备和优化预冷技术;货架期第2天(到达目的地后),4个品种桃果果肉组织的硬度均在2 kg·cm-2以上;其中‘仓方早生’和‘锦香’果实中可溶性固形物的含量略高于10%,其余品种的均为8%~9%,说明产地采收果实的品质有待提高;不同品种对冷害的敏感性存在一定的差异性。文中综合分析认为:‘中油4号’的贮运品质较好,其预冷和蓄冷性能均佳,其果实外观和肉质均好,且汁液多,味较甜;而其他品种桃果运至目的地后均发生了不同程度的冷害现象。据此,文末提出了采取终端冷链措施以避免冷害发生的建议。