A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.     

Effect of α-Lipoic Acid on the Development of Human Skin Equivalents Using a Pumpless Skin-on-a-Chip Model

Owing to the prohibition of cosmetic animal testing, various attempts have recently been made using skin-on-a-chip (SOC) technology as a replacement for animal testing. Previously, we reported the development of a pumpless SOC capable of drug testing with a simple drive using the principle that the medium flows along the channel by gravity when the chip is tilted using a microfluidic channel. In this study, using pumpless SOC, instead of drug testing at the single-cell level, we evaluated the efficacy of α-lipoic acid (ALA), which is known as an anti-aging substance in skin equivalents, for skin tissue and epidermal structure formation. The expression of proteins and changes in genotyping were compared and evaluated. Hematoxylin and eosin staining for histological analysis showed a difference in the activity of fibroblasts in the dermis layer with respect to the presence or absence of ALA. We observed that the epidermis layer became increasingly prominent as the culture period was extended by treatment with 10 μM ALA. The expression of epidermal structural proteins of filaggrin, involucrin, keratin 10, and collagen IV increased because of the effect of ALA. Changes in the epidermis layer were noticeable after the ALA treatment. As a result of aging, damage to the skin-barrier function and structural integrity is reduced, indicating that ALA has an anti-aging effect. We performed a gene analysis of filaggrin, involucrin, keratin 10, integrin, and collagen I genes in ALA-treated human skin equivalents, which indicated an increase in filaggrin gene expression after ALA treatment. These results indicate that pumpless SOC can be used as an in vitro skin model similar to human skin, protein and gene expression can be analyzed, and it can be used for functional drug tests of cosmetic materials in the future. This technology is expected to contribute to the development of skin disease models.     

Fat Distribution and Lipid Profile of Young Adults with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Enzyme Deficiency

We aimed to compare detailed fat distribution and lipid profile between young adults with congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency and a control group. We also verified independent associations of treatment duration and daily hydrocortisone dose equivalent (HDE) with lipid profile within patients. This case–control study included 23 patients (7 male and 16 female) matched by an age range of young adults (18–31 years) with 20 control subjects (8 male and 12 female). Dual energy X-ray absorptiometry was used to measure the fat distribution. Male patients demonstrated elevated indices of fat mass for total (7.7 ± 2.1 vs. 4.5 ± 1.3 kg/m², p = 0.003), trunk (4.0 ± 1.2 vs. 2.2 ± 0.8 kg/m², p = 0.005), android (0.63 ± 0.24 vs. 0.32 ± 0.15 kg/m², p = 0.008), gynoid (1.34 ± 0.43 vs. 0.74 ± 0.24 kg/m², p = 0.005), arm (0.65 ± 0.16 vs. 0.39 ± 0.10 kg/m², p = 0.009), and leg regions (2.7 ± 0.8 vs. 1.6 ± 0.4 kg/m², p = 0.005) than the control group, but not in females. However, female patients demonstrated elevated ratio of low-density lipoprotein cholesterol to high-density lipoprotein cholesterol (1.90 ± 0.46 vs. 1.39 ± 0.47, p = 0.009) than the control group, but not in males. Total fat mass was inversely correlated with total testosterone (r = −0.64, p = 0.014) and positively correlated with leptin in males (r = 0.75, p = 0.002). An elevated daily HDE (β = 0.43, p = 0.038 and β = 0.47, p = 0.033) and trunk to total fat mass ratio (β = 0.46, p = 0.025, and β = 0.45, p = 0.037) were independently correlated with impaired lipid profile markers. Although there is no altered lipid profile, male patients demonstrated an increased fat distribution. However, female patients presented with an impaired lipid profile marker but demonstrated close values of normal fat distribution. Interestingly, the dose of glucocorticoid therapy can have some role in the lipid mechanisms.     

Farmers' preferences for adopting on-farm concentration of raw milk: Results from a discrete choice experiment in Germany

Milk concentrates are used in the manufacturing of dairy products such as yogurt and cheese or are processed into milk powder. Processes for the nonthermal separation of water and valuable milk ingredients are becoming increasingly widespread at farm level. The technical barriers to using farm-manufactured milk concentrate in dairies are minimal, hence the suspicion that the practice of on-farm raw milk concentration is still fairly uncommon for economic reasons. This study, therefore, set out to investigate farmers' potential willingness to adopt a raw milk concentration plant. The empirical analysis was based on discrete choice experiments with 75 German dairy farmers to identify preferences and the possible adoption of on-farm raw milk concentration. The results showed that, in particular, farmers who deemed the current milk price to be insufficient viewed on-farm concentration using membrane technology as an option for diversifying their milk sales. We found no indication that adoption would be impeded by a lack of trustworthy information on milk processing technologies or capital.     

Combined biotin,folic acid,and vitamin B12 supplementation given during the transition period to dairy cows: Part II. Effects on energy balance and fatty acid composition of colostrum and milk

Biotin (B₈), folate (B₉), and vitamin B₁₂ (B₁₂) are involved in several metabolic reactions related to energy metabolism. We hypothesized that a low supply of one of these vitamins during the transition period would impair metabolic status. This study was undertaken to assess the interaction between B₈ supplement and a supplementation of B₉ and B₁₂ regarding body weight (BW) change, dry matter intake, energy balance, and fatty acid (FA) compositions of colostrum and milk fat from d ?21 to 21 relative to calving. Thirty-two multiparous Holstein cows housed in tie stalls were randomly assigned, according to their previous 305-d milk yield, to 8 incomplete blocks in 4 treatments: (1) a 2-mL weekly i.m. injection of saline (0.9% NaCl; B₈?/B₉B₁₂?); (2) 20 mg/d of dietary B₈ (unprotected from ruminal degradation) and 2-mL weekly i.m. injection of 0.9% NaCl (B₈+/B₉B₁₂?); (3) 2.6 g/d of dietary B₉ (unprotected) and 2-mL weekly i.m. injection of 10 mg of B₁₂ (B₈?/B₉B₁₂+); (4) 20 mg/d of dietary B₈, 2.6 g/d of dietary B₉, and 2-mL weekly i.m. injection of 10 mg of B₁₂ (B₈+/B₉B₁₂+) in a 2 × 2 factorial arrangement. Colostrum was sampled at first milking. and milk samples were collected weekly on 2 consecutive milkings and analyzed for FA composition. Body condition score and BW were recorded every week throughout the trial. Within the first 21 d of lactation, B₈?/B₉B₁₂+ cows had an increased milk yield by 13.5% [45.5 (standard error, SE: 1.8) kg/d] compared with B₈?/B₉B₁₂? cows [40.1 (SE: 1.9)], whereas B₈ supplement had no effect. Even though body condition score was not affected by treatment, B₈?/B₉B₁₂+ cows had greater BW loss by 24 kg, suggesting higher mobilization of body reserves. Accordingly, milk de novo FA decreased and preformed FA concentration increased in B₈?/B₉B₁₂+ cows compared with B₈?/B₉B₁₂? cows. In addition, cows in the B₈+/B₉B₁₂? group had decreased milk de novo FA and increased preformed FA concentration compared with B₈?/B₉B₁₂? cows. Treatment had no effect on colostrum preformed FA concentration. Supplemental B₈ decreased concentrations of ruminal biohydrogenation intermediates and odd- and branched-chain FA in colostrum and milk fat. Moreover, postpartum dry matter intake for B₈+ cows tended to be lower by 1.6 kg/d. These results could indicate ruminal perturbation caused by the B₈ supplement, which was not protected from rumen degradation. Under the conditions of the current study, in contrast to B₈+/B₉B₁₂? cows, B₈?/B₉B₁₂+ cows produced more milk without increasing dry matter intake, although these cows had greater body fat mobilization in early lactation as suggested by the FA profile and BW loss.     

Lactobacillus reuteri-fortified camel milk infant formula: Effects of encapsulation,in vitro digestion,and storage conditions on probiotic cell viability and physicochemical characteristics of infant formula

Lactobacillus reuteri fortified camel milk infant formula (CMIF) was produced. The effect of encapsulation in different matrices (sodium alginate and galacto-oligosaccharides) via spray drying, simulated infant gastrointestinal digestion (SIGID), and storage conditions (temperature and humidity) on the viability of L. reuteri in CMIF and the physicochemical properties of CMIF were evaluated. Compared with free cells, probiotic cell viability was significantly enhanced against SIGID conditions upon encapsulation. However, L. reuteri viability in CMIF decreased after 60 d of storage, predominantly at higher storage humidity and temperature levels. At the end of the storage period, significant changes in the color values were observed in all CMIF, with a reduction in their greenness, an increase in yellowness, and a wide variation in their whiteness. Moreover, pH values and caking behavior of all CMIF stored at higher temperature (40°C) and humidity [water activity (a_w) = 0.52] levels were found to be significantly higher than the samples stored under other conditions. Over 30 d of storage at lower humidity conditions (a_w = 0.11 and 0.33) and room temperature (25°C), no significant increase in CMIF lipid oxidation rates was noted. Fourier-transform infrared spectroscopy analysis showed that, compared with the other storage conditions, CMIF experienced fewer changes in functional groups when stored at a_w = 0.11. Microscopic images showed typical morphological characteristics of milk powder, with round to spherical-shaped particles. Overall, camel milk fortified with encapsulated L. reuteri can be suggested as a promising alternative in infant formula industries, potentially able to maintain its physicochemical characteristics as well as viability of probiotic cells when stored at low humidity levels (a_w = 0.11) and temperature (25°C), over 60 d of storage.     

基于ERNIE-BiGRU模型的摘要语步自动识别研究

学术文献的摘要是对文献主要内容的浓缩,摘要不同部分的语步具有不同的信息,语步的自动识别和抽取对于学术摘要的后续研究有着重要的应用价值,而目前语步识别的研究相对较少,并且相关算法的效果还需要提高。针对上述问题,该文提出了一种基于ERNIE-BiGRU模型的语步识别算法。该算法首先结合中文句法分析理论提出基于句法依存关系的多语步结构拆分法,对学术文献摘要多语步结构进行自动拆分,获得多个单语步结构;然后构建用于训练的单语步结构语料库,并利用知识增强语义表示预训练模型,训练出句子级词向量;最后将训练出的单语步结构词向量信息输入双向门限循环单元(BiGRU)进行摘要语步自动化识别,取得了良好的效果。实验结果表明,该算法具有较好的鲁棒性和较高的识别精度,在结构化和非结构化摘要上的识别准确率分别达到了96.57%和93.75%。     

基于人脸卡口数据的行人共现关系图谱构建

随着人脸识别技术的不断进步以及人脸卡口的大范围且密集的部署, 本文针对团伙犯罪案件侦察这一应用场景, 对人脸卡口数据进行深入挖掘, 探究其中行人间的共现关系, 获取所关注的嫌疑人的现实社交网络, 锁定团伙其余人员. 经过实验比对和论证, 本文使用Chinese Whispers聚类算法对行人节点进行识别, 通过Faiss加速邻接边的构建, 加速图的初始化步骤, 解决其聚类效率低下的问题. 在此基础上, 使用共现频次和Apriori算法中的置信度挖掘行人间的共现关系, 构建行人共现关系图谱.     

Macromineral and trace element concentrations in milk from Finnish Ayrshire cows fed microalgae (Spirulina platensis) and rapeseed (Brassica napus)

Given the lack of research regarding the effect of microalgal supplementation in dairy cows on milk mineral concentrations, this study investigated the effect of feeding different protein supplements in dairy cow diets on milk, feces, and blood plasma mineral concentrations, associated milk and blood plasma transfer efficiencies, and apparent digestibility. Lactating Finnish Ayrshire cows (n = 8) were allocated at the start of the trial to 4 diets used in a replicated 4 × 4 Latin square design experiment: (1) control diet (CON), (2) a pelleted rapeseed supplement (RSS; 2,550 g/d), (3) a mixture of rapeseed and Spirulina platensis (RSAL; 1,280 g of RSS + 570 g of S. platensis per day), and (4) S. platensis (ALG; 1,130 g of S. platensis per day). In each of the 4 experimental periods, a 2-wk adaptation to the experimental diets was followed by a 7-d sampling and measurement period. Feed samples were composited per measurement period, milk, and feed samples (4 consecutive days; d 17–20), and blood plasma samples (d 21) were composited for each cow period (n = 32). Data were statistically analyzed using a linear mixed effects model with diet, period within square, square and their interaction as fixed factors, and cow within square as a random factor. Cows fed ALG were not significantly different in their milk or blood plasma mineral concentrations compared with CON, although feeding ALG increased fecal concentrations of macrominerals (Ca and Mg) and trace elements (Co, Cu, Fe, I, Mn, and Zn), and reduced their apparent digestibility, compared with CON. When compared with CON and ALG, milk from cows fed RSAL and RSS had lower milk I concentrations (?69.6 and ?102.7 μg/kg of milk, respectively), but total plasma I concentrations were not affected significantly. Feeding S. platensis to dairy cows did not affect mineral concentrations in cows' blood or milk, but care should be taken when rapeseed is fed to avoid reducing milk I concentrations which may in turn reduce consumers' I intake from milk and dairy products.     

Shared human–robot path following control of an unmanned ground vehicle

This paper considers the shared path following control of an unmanned ground vehicle by a single person. A passive measure of human intent is used to blend the human and machine inputs in a mixed initiative approach. The blending law is combined with saturated super-twisting sliding mode speed and heading controllers, so that exogenous disturbances can be counteracted via equivalent control. It is proven that when the proposed blending law is used, the combined control signals from both the human and automatic controller respect the actuator magnitude constraints of the machine. To demonstrate the approach, shared control experiments are performed using an unmanned ground vehicle, which follows a lawn mower pattern shaped path.