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Concurrent Myelomeningocele and Hydrocephalus in a 55-Year-Old Female: Genetic Insights  [PDF]
Andrey Frolov, Carl Lee, Carley Olson, Daniel T. Daly
Open Journal of Pathology (OJPathology) , 2026, DOI: 10.4236/ojpathology.2026.164021
Abstract: Spina bifida (SB) is the most common congenital malformation of the central nervous system (CNS), which develops as a result of disrupted primary neurulation and neural tube closure. Myelomeningocele (MMC) is the most severe SB form and belongs to a larger group of congenital malformations known as neural tube defects (NTDs). MMC occurs when a portion of the spinal cord or nerves protrudes from an opening in the spine and may or may not be covered by meninges. MMC can be associated with hydrocephalus (HC), Arnold-Chiari II malformation, bowel and bladder dysfunction, lower limb paralysis, and pain syndromes. Despite many studies suggesting possible MMC causes such as folic acid deficiency, genetic disorders, ethnicity, and maternal health characteristics, the mechanism of MMC, particularly its concurrence with HC, is still unclear. To address such shortcomings, the whole exome sequencing (WES) of cadaveric DNA procured from the body of a 55-year-old female with concurrent MMC and HC was performed on the Illumina next-generation sequencing (NGS) platform. The bioinformatics analysis of WES data yielded 84 rare (minor allele frequency, MAF ≤ 0.01) pathologic/deleterious genetic variants, with few of the affected genes being previously linked to NTD/MMC or HC. The most interesting such genes were ALDH1L1 and DNAAF1 because they have been previously reported to be associated with both NTD/MMC and HC. The great extent of HC association with MMC raises a question of whether the ALDH1L1 and DNAFF1 mutations could, at least in some cases, underline the concurrent MMC and HC in humans.
Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer
Bo Luo,Ding Ma,Hui Wang,Lan Yu,Qinghua Zhang,Wanqiu Huang,Xin Wang,Xiong Li,Xun Tian,Yingyan Han,Zheng Hu,Zongyuan Yang
- , 2017, DOI: 10.1080/15384047.2017.1295175
Abstract: Aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) belongs to the superfamily of aldehyde dehydrogenases (ALDHs). However, the prognostic value of ALDH5A1 in ovarian cancer remains unclear. The aim of this study was to explore the relationship between ALDH5A1 and the prognosis of patients with ovarian cancer (OC). We compared the expression of ALDH5A1 in OC to that innormal controls, using {"type":"entrez-geo","attrs":{"text":"GSE40595","term_id":"40595"}}GSE40595 profiling data. Tissue microarray analysis was conducted for192 OC patients, 14 adjacent normal ovary tissues, and 2 normal ovary tissues. Using the “Kaplan-Meier plotter” (KM plotter) database, updated gene expression data and survival information of a total of 1583 OC patients were used to evaluate the prognostic value of ALDH5A1 in OC patients. We found that ALDH5A1 mRNA expression was downregulated in OC patients compared with that innormal tissues. In survival analyses, we found that ALDH5A1 was positively linked to prognosis in patients with OC, particularly in those with serous ovarian cancer (SOC). In addition, high Ctranscription activity of ALDH5A1 was correlated with better overall survival in SOC patients expressing mutatedTP53, but not in those expressing wild-type TP53. In pathological grades II/III, a high mRNA level of ALDH5A1 was associated with improved overall survival. The positive association between ALDH5A1 and prognosis was found not only in early stages(I and II), but also in advanced stages (III and IV) of SOC patients. results indicate that ALDH5A1 is an excellent predictive factor of OC and may play crucial roles in OC progression
Cytoplasmic L1 Levels in Cancer  [PDF]
Eleana Hatzidaki, Panagiotis Apostolou, Ioannis Papasotiriou
Journal of Cancer Therapy (JCT) , 2022, DOI: 10.4236/jct.2022.136031
Abstract: In addition to shaping genome diversification over evolutionary time, L1 retrotransposition alters gene expression as well. The most notable gene altering process involves insertional mutagenesis. The aim of the study was the examination of both nuclear L1 expression levels and cellular localization in cancer cell lines, PBMCs from healthy volunteers and PBMCs from cancer patients. L1 was detected by FISH in chromosome preparations. L1 probe was custom-made using end-point PCR against L1-ORF2 and conjugated with FITC. It was found that cancer cell lines and clinical samples from cancer patients contained significantly elevated levels of L1 per nucleus compared to healthy volunteers. Cytoplasmic L1 was also increased in the above mentioned samples denoting that cancer could be associated with increased L1 activation and mobility. Our results may provide a novel cancer diagnostic marker and highlight the possibility of cytoplasmic L1 inhibition as a therapeutic intervention for cancer.
Single Frequency WAAS Augmentation Observations (L1 vs. L5) on a Ground Based GPS L1 C/A Solution  [PDF]
Marc-Antoine Fortin, Jean-Christophe Guay, René Jr. Landry
Positioning (POS) , 2014, DOI: 10.4236/pos.2014.53010
Abstract:
This paper presents observations on the WAAS L1 and L5 signals quality and their impact on the robustness of the navigation solution by quantifying the contributions of each broadcasted differential correction. This work is undertaken with the intent of defining performance benefits of L5 by dual frequency WAAS users and is to provide useful material for Minimum Operational Performance Standard (MOPS) development. In this perspective, a study of the WAAS signal characteristics is first carried out. The information gathered is then used to compare various GPS solutions in terms of frequency diversity, satellite diversity, pseudorange noise and different signal corrections and their impacts. These solutions are compared against a reference standalone GPS solution. All statistics are computed with respect to a post-processed Novatel Waypoint Real-Time Kinematics (RTK) GPS L1/L2 semi-codeless static solution, considered as the reference. A discussion on some simplifications with respect to specifications (i.e. MOPS) that could be considered by receiver manufacturers closes the paper. It is confirmed that the current WAAS navigation message definition is the same on both the L1 and L5 frequencies, the latter further being Manchester coded, thus avoiding data ambiguity. The +5 dB SNR on L5 has minor impacts in terms of reliability and continuous availability in the presented scenarios, but would become especially beneficial in hostile environments, despite a greater number of pulsed interferers. Another demonstration is that the WAAS message varies slightly from one WAAS satellite to another, even if corrections are generated centrally. Finally, it is observed that WAAS and GPS signals pseudorange noise are comparable on a “per frequency” basis.
稀疏耦合神经网络的重构
Reconstruction of Sparse Coupled Neural Networks  [PDF]
董国梨, 肖玉柱
Advances in Applied Mathematics (AAM) , 2020, DOI: 10.12677/AAM.2020.98146
Abstract:
结合实际中神经网络的稀疏耦合特性，基于等式约束的L1优化方法下，本文发展了一类描述神经网络不规则放电动力学模型中耦合矩阵的重构方法，并通过数值模拟验证了该方法的有效性。与先前的基于SVD分解的重构方法相比较，本文的方法能在更短的观测时间内达到更高的重构精度。
Considering the sparse coupling characteristic of real neural network, a method based on the L1 optimization method with equality constraints is developed to reconstruct the coupling matrix of the dynamic model of neural networks with irregular firing rate. The effectiveness of proposed method is verified by numerical simulation. Compared with the previous reconstruction method based on SVD decomposition, the proposed method can achieve higher reconstruction accuracy in a shorter observation time.
基于客户特征的车险续保预测与方案优化
Auto Insurance Renewal Forecast and Scheme Optimization Based on Customers’ Characteristics  [PDF]
吴锴镔, 邓汉闻, 何旭昌, 罗敏敏
Hans Journal of Data Mining (HJDM) , 2019, DOI: 10.12677/HJDM.2019.93009
Abstract:
本文针对保险公司如何预判断客户续保概率这一问题，依托大数据的条件，综合运用反向传播BP神经网络、变权组合等方法对客户精准画像，建立客户续保概率模型。其次，运用神经网络L1正则化提取关键特征作为划分客户类别的依据，实现客户的等级划分。由此，针对不同的客户设计不同的优惠和福利方案，提高客户的续保率。
This paper aims at the pre-judgement of the customers’ renewal probability to the insurance company. Based on big data, this paper comprehensively uses the back-propagation neural network and variable weight combination to describe the images of the customers accurately, thus building a customer renewal probability model. Secondly, the L1 regularization is used to extract key features as the basis for classifying customers, thus making a customer classification. As a result, different preferential and welfare programs are designed for different types of customers to increase the renewal rate.
Contribution of L1 in EFL Teaching
Wahjuningsih Usadiati
K@ta : a Biannual Publication on the Study of Language and Literature , 2009,
Abstract: This study is conducted in a classroom action research to improve the students’ achievement in writing English sentences in Present Perfect Tense in Structure 1 lessons. The subject consisted of 20 Semester II students who took Structure I lessons in English Education Department of Palangka Raya University, Central Kalimantan, Indonesia. The data were taken from the results of pre test and post test after the action was done. The results show that in cycle 1, in which the explanations were fully in English, only 40% of the students got a good achievement; 5-7 out of 20 test items were correct. After cycle 2 was done using L1 interchangeably with English in the explanations, the students’ achievement of writing English sentences in Present Perfect Tense increased to 75%, in which 15-18 out 20 test items were correct.
The Relation between Linguistic Skills, Personality Traits, and Language Anxiety  [PDF]
Salim Abu-Rabia, Yefat Peleg, Wael Shakkour
Open Journal of Modern Linguistics (OJML) , 2014, DOI: 10.4236/ojml.2014.41011
Abstract:

This study examines the relation between linguistic skills, personality types, and language anxiety amongst eighty Israeli Grade 11 students whose mother tongue is Hebrew and who are learning English as a second language. The participants were administered various tests measuring their basic linguistic skills in Hebrew as their first language (L1), including phonological and morphological awareness, working memory, rapid naming—and a series of language tests: vocabulary, word and text reading, pseudo-word reading, and spelling. They were also administered tests in English as a foreign language (EFL): vocabulary, word recognition, letter identification, text reading, and pseudo-word reading. All the participants completed an anxiety questionnaire with respect to both language sets, together with a personality questionnaire based on the Big Five model. The findings demonstrated a significant positive correlation between all the L1 and EFL linguistic skills. A significant negative correlation was obtained between the linguistic skills in both languages and anxiety towards English and Hebrew. The participants also exhibited similar levels of anxiety towards both languages. The results further identified the contribution made by personality types—neuroticism in particular—to the prediction of language anxiety and EFL success. All the findings are discussed in light of the literature, suggestions being made for future research possibilities.

Cross-Linguistic Skills Transfer from the Second/Foreign Language to the First among Students with Learning Disabilities after an Intervention Program in the Second Language  [PDF]
Georgia Andreou, Maria Segklia
Creative Education (CE) , 2019, DOI: 10.4236/ce.2019.105077
Abstract: Cross-linguistic skills transfer from the first language (L1) to the second/foreign language (L2) has been widely investigated and the impact of L1 on L2 learning has been documented. On the other hand, there are few studies that have investigated the reverse transfer of skills that are from L2 to L1. These studies support the CRT hypothesis which claims that such a transfer exists and that when an intervention program for the improvement of specific linguistic skills in L2 is applied in children with learning disabilities there is an improvement of the same skills in their L1, except for spelling skills (Abu-Rabia & Bluestein-Danon, 2012; Abu-Rabia, Shakkour, & Siegel, 2013). In the present study, a linguistic skill transfer from L2 (English) to L1 (Greek) is investigated, after an intervention in the L2, among secondary school students with learning disabilities (LD). The students (mean age 13.6 years old) were divided into an experimental group which received an intervention in L2’s decoding and spelling skills and also into a control group which did not receive any intervention. Both groups were tested in their decoding reading skills and spelling in both languages. Our results showed that
Contribution of L1 in EFL Teaching
Wahjuningsih Usadiati
- , 2009, DOI: https://doi.org/10.9744/kata.11.2.171-183
Abstract: Abstract This study is conducted in a classroom action research to improve the students’ achievement in writing English sentences in Present Perfect Tense in Structure 1 lessons. The subject consisted of 20 Semester II students who took Structure I lessons in English Education Department of Palangka Raya University, Central Kalimantan, Indonesia. The data were taken from the results of pre test and post test after the action was done. The results show that in cycle 1, in which the explanations were fully in English, only 40% of the students got a good achievement; 5-7 out of 20 test items were correct. After cycle 2 was done using L1 interchangeably with English in the explanations, the students’ achievement of writing English sentences in Present Perfect Tense increased to 75%, in which 15-18 out 20 test items were correct
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