bluuebunny/crossref_metadata_2025 huggingface dataset:
Early parafoveal semantic integration in natural reading
Authors: Pan Yali , Frisson Steven , Federmeier Kara D. , Jensen Ole
Published: March 2024

Humans can read and comprehend text rapidly, implying that readers might process multiple words per fixation. However, the extent to which parafoveal words are previewed and integrated into the evolving sentence context remains disputed. We investigated parafoveal processing during natural reading by recording brain activity and eye movements using MEG and an eye tracker while participants silently read one-line sentences. The sentences contained an unpredictable target word that was either congruent or incongruent with the sentence context. To measure parafoveal processing, we flickered the target words at 60 Hz and measured the resulting brain responses (i.e.,
Rapid Invisible Frequency Tagging, RIFT
) during fixations on the pre-target words. Our results revealed a significantly weaker tagging response for target words that were incongruent with the sentence context compared to congruent ones, even within 100 ms of fixating the word immediately preceding the target. This reduction in the RIFT response was also found to be predictive of individual reading speed. We conclude that semantic information is not only extracted from the parafovea but can also be integrated with the sentence context before the word is fixated. This early and extensive parafoveal processing supports the rapid word processing required for natural reading. Our study suggests that theoretical frameworks of natural reading should incorporate the concept of deep parafoveal processing.
Mitosis sets nuclear homeostasis of cancer cells under confinement
Authors: Mouelhi Malèke , Saffon Alexis , Roinard Morgane , Delanoë-Ayari Hélène , Monnier Sylvain , Rivière Charlotte
Published: March 2024

During their life, mammalian cells are subjected to numerous mechanical constraints, especially in pathological contexts such as cancer. Recent studies have highlighted the central role of the nucleus in sensing mechanical cues, but they only focus on short periods of time, and so far, whether cells can adapt to prolonged confinement remains unknown. Here, we reveal the unsuspected role of mitosis in the long-term adaptation of nuclei to prolonged uniaxial confinement. For the colorectal cancer cell line investigated, following the first confined cell division, a new homeostatic state was reached by nuclei: they were smaller, and had reset the tension of their envelope. This adaptation through mitosis relied both on the nuclear tension sensor cPLA2 and the contractility machinery. We report for the first time a mechano-adaptation during mitosis, a process that could be crucial to adapt to stresses in the tumor microenvironment. We therefore anticipate that our work could provide new insight into cancer cell plasticity and cancer relapse.Most cell types undergo significant deformation throughout their life cycles. Immune cells must deform to navigate through dense matrices, while cancer cells in solid tumors experience squeezing from neighboring cells. The nucleus, central for many cell function, is the stiffest and largest organelle. Understanding its long-term response to spatial constraints is hence crucial yet largely unexplored.In this study, we investigate how a colorectal cancer cell line adapts to prolonged confined environments, with a particular focus on nuclear dynamics under continuous squeezing.Our groundbreaking findings reveal for the first time a mechano-adaptation during mitosis leading to a decrease in nuclear size.This research contributes to the fundamental understanding of cellular mechanosensing, opening new avenues for cancer biology research.
The speed of detection vs. segmentation from continuous sequences: Evidence for an anticipation mechanism for detection through a computational model
Authors: Luo Meili , Cao Ran , Wang Felix Hao
Published: March 2024

To understand the latent structure of a language, one of the first steps in language learning is word segmentation. The rapid speed is an important feature of statistical segmentation, and exact quantifications would help us understand the underlying mechanism. In this study, we probe the speed of learning by using a novel experimental paradigm and compare them to results obtained through the traditional word segmentation paradigm. Using a novel target detection paradigm, we replicated and extended a study on when participants start to show learning effects. We successfully replicated a facilitation effect showing rapid learning, which showed that learners obtained statistical information following a single exposure. However, we also found a similar facilitation effect when the syllable sequence contained words that were uniform or mixed in length. Importantly, this contrasts with results from traditional word segmentation paradigms, where learning is significantly better in uniform-length sequences than in mixed-length sequences. Thus, even though the target detection paradigm showed robust effects, it may have required mechanisms different from those in word segmentation. To understand these mechanisms, we proposed both theoretical analyses and a computational model to simulate results from the target detection paradigm. We found that an anticipation mechanism could explain the data from target detection, and crucially, the anticipation mechanism can produce facilitation effects without performing segmentation. We discuss both the theoretical and empirical reasons why the target detection and word segmentation paradigm might engage different processes, and how these findings contribute to our understanding of statistical word segmentation.
Complementary cognitive roles for D2-MSNs and D1-MSNs during interval timing
Authors: Bruce Robert A , Weber Matthew , Bova Alexandra , Volkman Rachael , Jacobs Casey , Sivakumar Kartik , Stutt Hannah , Kim Youngcho , Curtu Rodica , Narayanan Kumar
Published: March 2024

The role of striatal pathways in cognitive processing is unclear. We studied dorsomedial striatal cognitive processing during interval timing, an elementary cognitive task that requires mice to estimate intervals of several seconds and involves working memory for temporal rules as well as attention to the passage of time. We harnessed optogenetic tagging to record from striatal D2-dopamine receptor-expressing medium spiny neurons (D2-MSNs) in the indirect pathway and from D1-dopamine receptor-expressing MSNs (D1-MSNs) in the direct pathway. We found that D2-MSNs and D1-MSNs exhibited distinct dynamics over temporal intervals as quantified by principal component analyses and trial-by-trial generalized linear models. MSN recordings helped construct and constrain a four-parameter drift-diffusion computational model in which MSN ensemble activity represented the accumulation of temporal evidence. This model predicted that disrupting either D2-MSNs or D1-MSNs would increase interval timing response times and alter MSN firing. In line with this prediction, we found that optogenetic inhibition or pharmacological disruption of either D2-MSNs or D1-MSNs increased interval timing response times. Pharmacologically disrupting D2-MSNs or D1-MSNs also changed MSN dynamics and degraded trial-by-trial temporal decoding. Together, our findings demonstrate that D2-MSNs and D1-MSNs had opposing dynamics yet played complementary cognitive roles, implying that striatal direct and indirect pathways work together to shape temporal control of action. These data provide novel insight into basal ganglia cognitive operations beyond movement and have implications for human striatal diseases and therapies targeting striatal pathways.
Erythropoietin alleviates lung ischemia-reperfusion injury by activating the FGF23/FGFR4/ERK signaling pathway
Authors: Jin Xiaosheng , Jin Weijing , Li Guoping , Zheng Jisheng , Xu Xianrong
Published: March 2024

Background

The purpose of the present study was to investigate the effect of erythropoietin (EPO) on lung ischemia-reperfusion injury (LIRI).

Methods

Sprague Dawley rats and BEAS-2B cells were employed to construct an ischemia-reperfusion (I/R)-induced model in vivo and in vitro, respectively. Afterward, I/R rats and tert-butyl hydroperoxide (TBHP)-induced cells were treated with different concentrations of EPO. Furthermore, 40 patients with LIRI and healthy controls were enrolled in the study.

Results

It was observed that lung tissue damage, cell apoptosis and the expression of BAX and caspase-3 were higher in the LIRI model in vivo and in vitro than in the control group, nevertheless, the Bcl-2, FGF23 and FGFR4 expression level was lower than in the control group. EPO administration significantly reduced lung tissue damage and cell apoptosis while also up-regulating the expression of FGF23 and FGFR4. Rescue experiments indicated that EPO exerted a protective role associated with the FGF23/FGFR4/p-ERK1/2 signal pathway. Notably, the expression of serum EPO, FGF23, FGFR4 and Bcl-2 was decreased in patients with LIRI, while the expression of caspase-3 and BAX was higher.

Conclusion

EPO could effectively improve LIRI, which might be related to the activation of the FGF23/FGFR4/p-ERK1/2 signaling pathway.
Comprehensive analysis of the microbiome in Apis cerana honey highlights honey as a potential source for the isolation of beneficial bacterial strains
Authors: Lanh Pham T. , Duong Bui T.T. , Thu Ha T. , Hoa Nguyen T. , Quyen Dong Van
Published: March 2024

Background

Honey is a nutritious food made by bees from nectar and sweet deposits of flowering plants and has been used for centuries as a natural remedy for wound healing and other bacterial infections due to its antibacterial properties. Honey contains a diverse community of bacteria, especially probiotic bacteria, that greatly affect the health of bees and their consumers. Therefore, understanding the microorganisms in honey can help to ensure the quality of honey and lead to the identification of potential probiotic bacteria.

Methods

Herein, the bacteria community in honey produced by Apis cerana was investigated by applying the next-generation sequencing (NGS) method for the V3–V4 hypervariable regions of the bacterial 16S rRNA gene. In addition, lactic acid bacteria (LAB) in the honey sample were also isolated and screened for in vitro antimicrobial activity.

Results

The results showed that the microbiota of A. cerana honey consisted of two major bacterial phyla, Firmicutes (50%; Clostridia, 48.2%) and Proteobacteria (49%; Gammaproteobacteria, 47.7%). Among the 67 identified bacterial genera, the three most predominant genera were beneficial obligate anaerobic bacteria, Lachnospiraceae (48.14%), followed by Gilliamella (26.80%), and Enterobacter (10.16%). Remarkably, among the identified LAB, Lactobacillus kunkeei was found to be the most abundant species. Interestingly, the isolated L. kunkeei strains exhibited antimicrobial activity against some pathogenic bacteria in honeybees, including Klebsiella spp., Escherichia coli, Enterococcus faecalis, Pseudomonas aeruginosa and Staphylococcus aureus. This underscores the potential candidacy of L. kunkeei for developing probiotics for medical use. Taken together, our results provided new insights into the microbiota community in the A. cerana honey in Hanoi, Vietnam, highlighting evidence that honey can be an unexplored source for isolating bacterial strains with potential probiotic applications in honeybees and humans.
An Investigation of the Elementary School 2nd Grade Values Education Set with Stories in Terms of Root Values
Authors: BAY Yalçın , KARAÇAY Zehra
Published: March 2024

Değerlerin tanımını genellemek mümkün olmasa da birey ve toplum üzerindeki etkileri bakımından belirli özelliklere sahip oldukları söylenebilir. Toplumun varlığı, bütünlüğü için değerler, toplum tarafından benimsenen, bireyin olaylara
yaklaşımını yöneten, kişilerarası ilişkileri düzenleyen kurallar olarak görülür ve toplumun temelini oluşturur. Bu çalışmanın amacı, Sevda Müjgan Yüksel’in İlkokul 2. Sınıf Öykülerle Değerler Eğitimi Seti’ndeki hikâyeleri kök değerler
açısından incelemek ve bu değerlerin neler olduğunu ve hangi sıklıkta örneklendirildiğini tespit etmektir. Araştırmanın veri kaynağını setin içindeki 10 hikâye kitabı oluşturmaktadır. Bu çalışma, nitel araştırma yöntemi kullanılarak
gerçekleştirilmiş ve verilerin toplanmasında doküman incelemesi tekniği kullanılmıştır. Hikâye kitapları betimsel analiz yöntemiyle çözümlenmiştir. 2019 Türkçe Dersi Öğretim Programında yer verilen 10 kök değerin öykülere göre
dağılım oranları ve frekansları tablolar şeklinde gösterilmiş ve ilgili olduğu kök değerlerin altında kodlanıp yorumlanarak açıklanmıştır. İncelemeler sonucunda hikâye kitaplarının tamamında toplam 450 kez kök değerlere yer verilerek,
en çok sevgi değerine rastlanılmıştır. Vatanseverlik değerine hiç yer verilmezken, en az rastlanılan kök değerin saygı değeri olduğu tespit edilmiştir. Öykü kitapları belirlenen kök değerleri yansıtması ve içerik açısından zengin
olması bu değerlerin öğrencilere aktarılırken kaynak olarak kullanılması hem okulda hem de okul dışında öykülerin okunarak öğrenciler tarafından içselleştirilmesi önerilmektedir. Amaç, önem, yöntem, veri kaynağı, bulgular ve bu
araştırmanın alana katkı sağlaması beklenmektedir.
Study on Smartphone Vision Syndrome in Smartphone Users: A Prospective Randomised Controlled Study
Authors: Bhat B Vishnu
Published: March 2024

Introduction: Recent International reports on ocular health shared that diplopia and dry eye are the prevalent ocular disorders caused by overuse of smartphone in young adults. Studies on smartphone usage in young adult’s reports that the smartphone use begins at the age group ranges from 12-18 years old, were the minimum duration of smartphone use per day is 4-6 hours. The association between smartphone use and prevalence of ocular manifestations has recommended the need of health education programs on smartphone use and its ocular impacts. Increasing use of smart devices also can cause acute acquired comitant esotropia in adolescents. Aim: To investigate the influence of smartphone reading on the ocular surface and to compare the influences of smartphone use on ocular symptoms, status of tear film stability and volume assessment. Materials and Methods: This is a prospective randomized controlled study on volunteers who continued reading for 2 hours on different smartphone screens. A total of 100 volunteers above 18 years of age without any ocular diseases had participated in the study. A structured questionnaire was used to collect the details in the present cadaveric case, found that the IMA divided into two terminal branches. The ascending branch emanated the left colic and sigmodal artery whereas the descending branch continued as superior rectal artery. This was similar to type 2 pattern of Yada’s classification. The expert knowledge of normal and variant Anatomy of abdominal aorta is of utmost importance to the interventional Radiologists, laparoscopic Surgeons, and Surgical Oncologist in succeeding surgery with minimal complications. Keywords: Abdominal aorta, Colon, Yada's classification. of smartphone usage and the visual acuity, tear film stability and volume assessment test and Intraocular pressure (IOP) was taken as some of the parameters in the study. Results: The continuous use to smartphone causes various problems, headaches, eye dryness, earache, fatigue, and musculoskeletal manifestations. The visual acuity, tear film stability and tear volume and IOP of both right and left eye was analysed and found to be statistically significant among the control and SPVS group. The ocular manifestations are noted and correlated with the duration of usage. The precautions were recommended further from the results of the study. Conclusion: The prevalence of eye diseases is high in most of the age groups and it is important to educate about the adverse effect of smartphone usage in all categories. The study also suggests about the screen time limitation and usage of smartphones for young adults.
Zero Budget Natural Farming Impact on Tribal Rabi Rice Farming: Economic Analysis
Authors: Prasad Poiba Ravi , Sharma H. O. , Shrivastava Prashant , Rao Puli Nageswara , Bammidi Ujjwala
Published: March 2024

This study examines the economic viability of implementing Zero Budget Natural Farming (ZBNF) interventions in rabi rice cultivation, focusing on cost-effectiveness and productivity outcomes. Data collected before (2014-15) and after (2018-19) ZBNF adoption in a selected tribal area of Visakhapatnam district of Andhra Pradesh, India were analysed. Results reveal a reduction in total variable costs by 10.20 per cent, primarily attributed to decreases in weeding and nutrient supply expenses. Despite a slight increase in operational costs, ZBNF led to a significant drop (51.30 per cent) in input expenditures. Yield experienced a notable 10.25 per cent increase, resulting in a decrease in production costs from ₹1161.23 to ₹934.34 per quintal. The calculated cost-to-benefit ratio of -1:1.17 demonstrates favourable economic outcomes, highlighting the potential of ZBNF to enhance economic viability and sustainability in rabi rice cultivation among tribal farmers.
Magnetic Resonance Imaging (MRI) Insights into Brain Morphology and Connectivity Disruptions in Schizophrenia
Authors: Joshi Samiksha , Pandey Mohit Kumar , Solanki Bhawna , Rajput Pushpendra Kumar , Singh Mame Shalini , Praveen Hina , Gurav Manthan
Published: March 2024

This review explores the transformative impact of Magnetic Resonance Imaging (MRI) on understanding schizophrenia. Structural MRI has unveiled significant alterations in brain regions like the hippocampus and prefrontal cortex, offering detailed insights into anatomical irregularities. Functional MRI studies have shed light on disruptions within the default mode network, providing valuable insights into cognitive deficits associated with the disorder. Additionally, Diffusion Tensor Imaging has highlighted white matter abnormalities, underscoring compromised interregional communication within the brain. Despite persistent challenges such as population heterogeneity and variations in imaging protocols, MRI techniques have significantly advanced our understanding of schizophrenia's neurobiological aspects.
Commercial Culture of Cordyceps militaris from Waste Products of Sericulture in India
Authors: Narzary P. R. , Brahma D. , Sarma J. , Nath I. , Dutta P. L. , Bora N. R.
Published: March 2024

Cordyceps militaris, an entomopathogenic fungi belonging to Ascomycota group are currently in the limelight for its synthesis of Cordycepin, – an anti-cancer component. The host range of Cordyceps is extremely broad, with predominance on the orders Lepidoptera, Coleoptera, and Hymenoptera. Although this fungus is extremely rare in nature, its artificial culture is becoming more and more popular on the global market. However, the commercial culture of this fungus has been hampered by the difficulty in getting seeding material and the complex developmental technique. For ages, the silkworm (Order: Lepidoptera) has played a significant economic role in the food and silk industries of Asian nations. The waste product of the silkworm rearing process is the dead silkworm pupae, which are generated in large quantities after stifling of the cocoons for the purpose of producing raw silk. Waste from Sericulture in India has the potential to be used as a promising culture media for the growth of the Cordyceps-related sector, helping the silk farmers in their quest for future financial gain and the social advancement of the tribal society.
End-to-Side Neurorrhaphy Technique: Exploring Neuronal Regeneration to Restore Nerve Function
Authors: Oliveira Raiza Rafaela Borges de , Maia Júlia Santos , Galvão Ismael Felipe Gonçalves , Leite Davi Rodrigues , Azevedo-Filho Hildo Rocha Cirne , Souza Fernando Henrique Morais de
Published: March 2024

Aims: To report the case of a pediatric patient with total left brachial plexopathy (TLBP), exhibiting partially restored motor function and impaired sensitivity, who was treated with the End-to-Side neurorrhaphy (ETSN) technique.
Presentation of Case: A 13-year-old female was involved in a car accident. After clinical and imaging evaluation, the diagnostic hypothesis was TLBP with partially restored function and loss of protective sensitivity in the pincer region. A surgical intervention was recommended. Due to case characteristics, ETSN appeared to be the most appropriate technique.
Discussion: ETSN is a technique utilized for repairing nerve injuries. It involves suturing the distal end of a transected nerve to the lateral side of a healthy donor nerve, aiming to restore neurons through peripheral plasticity. The regeneration mechanism promoted by this technique shares some similarities with that promoted by standard techniques, with important roles being assigned to Schwann cells (SC), for example.  However, this procedure has its own particularities, which still require further investigation. Generally, ETSN cannot replicate the efficacy of model techniques, but remains valid in select cases, such as instances involving nerve injuries exceeding 3-4 cm or in the absence of donor nerves. Therefore, ETSN stands as a choice and deserves consideration.
Conclusion: The patient progressed with a good prognosis and recovered protective sensitivity in the pincer region. ETSN is efficient for peripheral nerve injuries with inaccessible proximal trunks or long nerve defects. The discussion surrounding ETSN remains controversial, making this study essential for expanding scientific knowledge.
Gene Therapies in the Fight against Liver Disease: A Comprehensive Review
Authors: Leff Phillip , Aboona Majd B. , Choday Silpa , Ali Qumber , Wijarnpreecha Karn , Alkhouri Naim
Published: March 2024

Introduction: The field of hepatology is rapidly evolving, with new treatments being investigated using gene therapy. Gene therapy involves using a patient's genetic code and altering it to create a desired phenotype/genotype.
Methods: Within this emerging domain, there is a multitude of delivery mediums used to alter genes. It is essential to understand the mechanisms of genetic therapies and the risks and benefits associated with them. This review aims to break down the mechanisms of action of gene therapies, describe current research conducted, and discuss future implications for the field of hepatology.
Discussion and Conclusion: Different methods of gene therapy include gene editing, gene silencing, gene transfer, and mRNA therapy. These genetic modulations are achieved through several modalities. Examples include zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), cluster-regulated interspaced short palindromic repeats with associated cast 9 proteins (CRISPR/Cas9), SiRNA particles, antisense oligonucleotides (ASO), and synthetically engineered mRNA. Initially, the method for gene therapy included injecting genetic code, usually in a vector, to create phenotypic production in gene-deficient states. Recently, gene therapy has included more precise editing of the genome with technologies such as CRISPR-Cas9 and silencing of pathogenic genes.
Assessing the Economic Viability of Watermelon Cultivation in Haryana and Karnataka, India: A Comparative Analysis
Authors: Jagadeesh S  , Dhillon Ashok , Bajwan Aarti , Pawar Neeraj , Malik D P
Published: March 2024

Aims: To analyze the costs, returns and profitability of watermelon production in the study area.
Place and Duration of Study: The study was carried out in Haryana and Karnataka state during the year 2021-22.
Methodology: For the study, 120 farmers (60 farmers from each state) were selected from Haryana and Karnataka which are selected purposively. From Haryana state, Sonipat and Jhajjar districts and from Karnataka, Koppal and Chitradurga districts were selected purposively based on highest area under watermelon production. From each district two blocks were selected randomly. Further from each selected block two villages (15 farmers each) were selected.
Results: Farmers of Karnataka investing more on seeds and plant protection chemicals (PPC) compared to farmers of Haryana. The cost of cultivation is higher in the Karnataka state (₹1,70,034.37/ha) compared to Haryana state (₹1,49,450.59/ha) farmers. The variation in cost of cultivation is due to Karnataka farmers were spending more on seeds, neem cake and PPC. The gross and net returns obtained per hectare was more in Karnataka state compared to Haryana state, because Karnataka has the suitable agro-climatic conditions for growing watermelon.
Conclusion: The cost and return analysis revealed that watermelon production in the study area was profitable with returns per rupee of investment (B: C ratio) of 1:51 in Haryana and 1:75 in Karnataka.
An approximate analytical solution of transport model in electrodes for anode‐supported solid oxide fuel cells
Authors: Bao Cheng , Cai Ningsheng
Published: October 2007

On the basis of the one‐dimensional, isothermal mechanistic model in the anode of an anode‐supported solid oxide fuel cell using binary mixture as fuel, two approximate analytical solutions considering both mass and charge transfer were developed in this article. First, by dividing the anode into the inactive and active zones, the regular perturbation method was used to approximate the distribution of the fuel concentration and overpotential. Then the approximate solution using the singular perturbation method reflects both the boundary‐layer effects of current density at the two boundaries of the anode. Both the two approximate solutions agree well with the numeric solution in the case of medium and low electric load. By introducing the concept of the boundary‐layer thickness at the anode/electrolyte interface, the two approximate solutions can be combined to get an explicit expression in a wide range of operation. The result in this article is useful to system‐level modeling and dynamic analysis. © 2007 American Institute of Chemical Engineers AIChE J, 2007
Influence of pore structure on drying kinetics: A pore network study
Authors: Metzger Thomas , Irawan Anton , Tsotsas Evangelos
Published: October 2007

A pore network model for convective drying is applied to investigate the influence of structure on drying behavior. The isothermal drying model is based on the work of Prat, and uses invasion percolation concepts, neglecting any viscous or gravitational effects. Pore structures of different pore‐size distribution and coordination number are studied in two‐ and three‐dimensions. Results are given as phase distributions or moisture profiles during drying, as well as drying rate curves. Significant differences in drying kinetics are reported for a variation in coordination number of monomodal networks. Bimodal pore structures can produce dramatically higher drying rates, but only for certain spatial correlations of small and large pores. Finally, influence of product thickness and importance of boundary layer modeling are addressed. © 2007 American Institute of Chemical Engineers AIChE J, 2007
Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome
Authors: Utsch Boris , McCabe Colleen D. , Galbraith Kenneth , Gonzalez Ricardo , Born Mark , Dötsch Jörg , Ludwig Michael , Reutter Heiko , Innis Jeffrey W.
Published: October 2007

We report on a father and daughter with hand–foot–genital syndrome (HFGS) with typical skeletal and genitourinary anomalies due to a 14‐residue polyalanine expansion in HOXA13. This is the largest (32 residues) polyalanine tract so far described for any polyalanine mutant protein. Polyalanine expansion results in protein misfolding, cytoplasmic aggregation and degradation; however, HOXA13 polyalanine expansions appear to act as loss of function mutations in contrast to gain of function for HOXD13 polyalanine expansions. To address this paradox we examined the cellular consequences of polyalanine expansions on HOXA13 protein using COS cell transfection and immunocytochemistry. HOXA13 polyalanine expansion proteins form cytoplasmic aggregates, and distribution between cytoplasmic aggregates or the nucleus is polyalanine tract size‐dependent. Geldanamycin, an Hsp90 inhibitor, reduces the steady‐state abundance of all polyalanine‐expanded proteins in transfected cells. We also found that wild‐type HOXA13 or HOXD13 proteins are sequestered in HOXA13 polyalanine expansion cytoplasmic aggregates. Thus, the difference between HOXA13 polyalanine expansion loss‐of‐function and HOXD13 polyalanine expansion dominant‐negative effect is not the ability to aggregate wild‐type group 13 paralogs but perhaps to variation in activities associated with refolding, aggregation or degradation of the proteins. © 2007 Wiley‐Liss, Inc.
Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia
Authors: Aldave Anthony J. , Yellore Vivek S. , Yu Fei , Bourla Nirit , Sonmez Baris , Salem Andrew K. , Rayner Sylvia A. , Sampat Kapil M. , Krafchak Charles M. , Richards Julia E.
Published: October 2007

Mutations in the two‐handed zinc‐finger homeodomain transcription factor gene (TCF8) have been associated with posterior polymorphous corneal dystrophy (PPCD) and extraocular developmental abnormalities. We performed screening of TCF8 in 32 affected, unrelated probands, affected and unaffected family members of probands identified with a TCF8 mutation, and in 100 control individuals. Eight different pathogenic mutations were identified in eight probands: four frameshift (c.953_954insA, c.1506dupA, c.1592delA, and c.3012_3013delAG); three nonsense (Gln12X, Gln214X, Arg325X); and one missense (Met1Arg). Screening of TCF8 in affected and unaffected family members in six families demonstrated that each identified mutation segregated with the disease phenotype in each family; two probands did not have additional family members available for analysis. None of the eight TCF8 mutations was identified in 200 control chromosomes. The prevalence of hernias of the abdominal region in affected individuals with PPCD associated with TCF8 mutations was significantly higher than the prevalence in both individuals with PPCD not associated with a TCF8 mutation and in unaffected individuals. Therefore, PPCD is associated with TCF8 mutations in one quarter of affected families in this study, or about one third of all PPCD families that have been screened thus far. In these families, the presence of apparently causative TCF8 mutations is associated with abdominal and inguinal hernias. © 2007 Wiley‐Liss, Inc.
Somatic and gonadal mosaicism in X‐linked retinitis pigmentosa
Authors: Jin Zi‐Bing , Gu Feng , Matsuda Hirokazu , Yukawa Nobuhiro , Ma Xu , Nao‐i Nobuhisa
Published: October 2007

The g.ORF15 + 652–653delAG mutation in the RPGR gene is the most frequent mutation in X‐linked retinitis pigmentosa (XLRP). The objective of this study was to investigate the possibility of mosaicism in an XLRP family. Eight subjects in the RP family were recruited. Blood samples were collected for DNA extraction. Haplotype analysis and mutational screening on the RPGR gene were performed. Additionally, samples of hair follicles and buccal cells from the mother of the proband were acquired for DNA extraction and molecular analysis. Phenotype was characterized with routine ophthalmic examination, Goldmann perimetry, electroretinography, and color fundus photography. A g.ORF15 + 652–653delAG mutation was identified in second‐ and third‐generation patients/carriers. A first‐generation female, who was considered to be an obligate carrier, demonstrated a normal phenotype as well as a normal genotype in lymphocytic DNA, indicating the gonadal mosaicism; however, a heterozygous AG‐deletion at nucleotide 652 and 653 was identified in the genomic DNA of hair follicles, hair shaft, and buccal cells, indicating that the mutation is somatic. In conclusion, we reported on a family in which an asymptomatic woman with somatic–gonadal mosaicism for a RPGR gene mutation transmitted the mutation to an asymptomatic daughter and to a son with XLRP. Gonadal mosaicism may be responsible for a proportion of multiplex or simplex RP families, in which more than 50% of all cases of RP are found. © 2007 Wiley‐Liss, Inc.
Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: Results of a pilot study in Israel
Authors: Grisaru‐Granovsky Sorina , Tevet Aharon , Bar‐Shavit Rachel , Salah Zaidoun , Elstein Deborah , Samueloff Arnon , Altarescu Gheona
Published: October 2007

Protease activated receptor 1 (PAR1), the thrombin receptor, is implicated in hemostasis, tissue remodeling, and is critical in early placentation. PAR1 polymorphisms that influence coagulation and adhesion molecule expression may compromise formation of a normal placenta, thereby resulting in adverse outcomes. This study is a prospective, case‐control comparison of Israeli mother‐neonate (singletons) pairs of complicated pregnancies: 33 preterm deliveries (PTDs), 20 preeclampsia (PE), and 28 idiopathic small for gestational age neonates (SGA) versus 98 pairs of uncomplicated singleton deliveries. PCR amplification identified polymorphisms in the 5′ regulatory region of the PAR1 gene at [−1426(C/T)], insertion at [−506 (I/D)], and IVS at [−14 (A/T)]. We found that 15.2% mothers with PTD were heterozygous for [−1426] versus 3% in uncomplicated deliveries; however, maternal allele frequency was not significantly different between pregnancies complicated by PE or SGA versus uncomplicated pregnancies. Maternal allele frequencies for [−506] and [−14] polymorphisms were not significantly different between any of the study groups compared to the uncomplicated group. Haplotype analysis recapitulated the genotype pattern. Maternal homozygous allele frequency for each of the polymorphic variants was low (<2%) in all pregnancies, and equally distributed. Neonatal genotypes did not differ between groups and were not associated with adverse outcomes. Maternal heterozygous allele state for PAR1 polymorphism [−1426] and the haplotype with [−506 wild‐type]/[−1426T]/[IVS‐14A] is associated with PTD. © 2007 Wiley‐Liss, Inc.
An unclassifiable short rib‐polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings
Authors: Kannu Peter , McFarlane Jeannette H. , Savarirayan Ravi , Aftimos Salim
Published: October 2007

The short rib‐polydactyly (SRP) group are lethal skeletal dysplasias with an autosomal recessive inheritance pattern that can be distinguished on radiological and histological grounds. We report on two consecutive pregnancies complicated by a SRP syndrome with acromesomelic hypomineralization and campomelia that cannot be definitely categorized, yet possesses features of this group of conditions. The skeletal changes observed in both cases included markedly shortened ribs, shortened humeri and femora, limb bowing, absent ossification of the radii, ulnae, tibiae and fibulae, as well as the bony elements of the hands and feet, hypoplastic scapulae and peritoneal calcifications. In one case, the pancreas was abnormal in shape, without a tail and the spleen was not identified. Ectopic splenic tissue and intestinal malrotation were identified and were suggestive of a laterality disorder. Whether these two cases should be considered an atypical form of SRP cannot be completely resolved at this present time and will need to wait on further progress in molecular testing. © 2007 Wiley‐Liss, Inc.
Long‐term follow‐up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex
Authors: Tho Sandra P. , Jackson Robert , Kulharya Anita S. , Reindollar Richard H. , Layman Lawrence C. , McDonough Paul G.
Published: October 2007

We report on the follow‐up of a set of monozygotic (MZ) twins who were concordant for peripheral blood karyotype 45,X/46,XY but discordant for phenotypic sex. One twin is a phenotypically normal male and the other twin has asymetrical gonadal dysgenesis. The female twin has the mos45,X/46,XY karyotype in all four tissues: left testis, right streak, vas deferens, and clitoral skin. The normal male twin has the normal 46,XY karyotype in all three tissues tested: foreskin, scrotal skin, and testis. Follow‐up of the twins at age 21, revealed persistence of mos45,X/46,XY karyotype in peripheral blood into adult life. However, the male grew up with normal male stature, reaching an adult height of 182 cm. The female twin received low dose estrogen replacement with complete breast development at age 14 years. She reached an adult height of 156 cm. At 21 years of age the male twin had normal testicular endocrine function, but severe oligospermia. The long‐term follow‐up of this set of MZ twins indicate that the male twin has the mosaicism confined to peripheral blood and has the normal 46,XY male constitution. This was further confirmed by his normal male stature and normal testicular endocrine function. The 45X cell line is likely due to his receiving these cells passively from his twin sister via placental anastomoses in utero. The exposure to these 45,X cells during development may have had an impact on his spermatogenesis. © 2007 Wiley‐Liss, Inc.
Trisomy 9 mosaicism and XX sex reversal
Authors: Solomon Benjamin D. , Turner Clesson E. , Klugman Darren , Sparks Susan E.
Published: October 2007

We report on a case of a phenotypic male infant who was referred to the genetics service due to dysmorphic features and congenital cardiac anomalies. Dysmorphic features included low‐set, posteriorly rotated ears with squared, simple helices, midface hypoplasia, a broad nasal root with wide nasal alae, small mouth, micrognathia, short neck, overlapping fingers, rocker‐bottom feet, prominent heels, and hypoplastic toenails. The phallus was normal and no testes were palpable in the scrotal sac. Cardiac anomalies included tricuspid atresia and a ventricular septal defect. The karyotype was 46,XX. Diagnostic microarray demonstrated evidence for trisomy 9 mosaicism, metaphase FISH revealed trisomy 9 on 7% of cultured cells, and interphase FISH analysis of a peripheral blood smear showed trisomy 9 in 78% of the cells examined. This is the first reported case of XX sex reversal in a patient with trisomy 9 mosaicism. © 2007 Wiley‐Liss, Inc.
The timing of eruption of the primary dentition in Nigerian children
Authors: Folayan Morenike , Owotade Foluso , Adejuyigbe Ebun , Sen Saunak , Lawal Biola , Ndukwe Kizito
Published: October 2007

The objectives of this study were to clarify the eruption time and sequence for primary teeth in Nigerian children. It also investigated the effect of sex and socioeconomic status on the timing and sequence of eruption. A random sample of 1,657 children from ages of 3–40 months were examined—921 (55.6%) males and 736 (44.4%) females. The age of eruption of the teeth was estimated using probit regression. The results show that there was no effect of sex, socioeconomic status or breastfeeding status on the timing of eruption and pattern of teeth eruption in Nigerian children. Left and right teeth had similar eruption times. Eruption times of the lateral incisor, canine, and molars were similar for upper and lower teeth. Interpopulation studies however showed that though the sequence of eruption of primary teeth in Nigerian population is similar to that of their peers in other compared populations, there are observable sex differences in the timing of tooth eruption. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Dental caries prevalence as evidence for agriculture and subsistence variation during the Yayoi period in prehistoric Japan: Biocultural interpretations of an economy in transition
Authors: Temple Daniel H. , Larsen Clark Spencer
Published: October 2007

The Yayoi period represents the earliest point of agricultural dependence in Japan, dating from ∼2500 BP to AD 300. Yayoi period people consumed wet‐rice as a primary subsistence base. This article uses dental caries prevalence to interpret the biocultural implications of agriculture among these people by testing the following hypotheses: 1) Yayoi period agriculturalists had greater frequencies of carious teeth than Jomon period foragers, 2) regional variation in carious tooth frequencies will be observed among Yayoi period agriculturalists, while 3) variation in carious tooth frequencies will be observed between male and female agriculturalists. Statistically significant differences in carious teeth were observed between the agriculturalists from Southern Honshu and all other samples. These differences suggest greater reliance on cariogenic plants among farmers from Southern Honshu and are consistent with an agricultural economy. The people of the Yayoi period from Tanegashima Island and Northern Kyushu did not have significantly different carious tooth frequencies compared to Jomon period foragers. This suggests that rice alone was not a more cariogenic dietary substance than those consumed by Jomon period foragers but a cariogenic food nonetheless. Dietary heterogeneity between the prehistoric people of the Yayoi period from Southern Honshu and those from Northern Kyushu and Tanegashima Island is also inferred from these differences. Significantly greater frequencies of carious teeth among older aged Yayoi period females compared with males suggest dietary differences between the sexes. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Getting it done fast, and keeping the fees up: A domain‐name case study on writing a reasoned award quickly, getting reappointed, and preserving your neutrality
Authors: Samuel Adam
Published: October 2007

London neutral Adam Samuel provides tips for profitable neutraling and speedy adjudication–that is, getting awards out the door, and maximizing ADR practice fees. His example is domain name disputes
New Jersey ethics opinion will alter how neutrals operate at mediation centers, highlighting the nature and structure not only of their relationships, but also the parties' obligations
Authors: Isaacs Hanan M. , Katz Jennifer L. B.
Published: October 2007

A New Jersey State Supreme Court committee opinion puts new obligations on consumers of ADR provider services, and neutrals. Hanan M. Isaacs, of Princeton, N.J., and Jennifer L. B. Katz, of Buffalo, N.Y., discuss what to look for in your local rules
Final call: CPR's fall meeting in Boston on Oct. 25‐26
Authors: Bleemer Russ
Published: October 2007

It's last call for three CPR doings: for the Fall Meeting in Boston later this month, for three trainings, and for nominations for the 2007 CPR Awards. Also, CPR member options for signing up for free electronic copies of Alternatives
Follow‐up: One way or another, lawyers vow to change ADR representation rule
Authors: Bleemer Russ
Published: October 2007

More on another New Jersey issue with national implications: the need to register locally to represent your company in ADR
Organische Umsetzungen an metallorganischen σ‐Aryl‐Komplexen
Authors: Gagliardo Marcella , Snelders Dennis J. M. , Chase Preston A. , Klein Gebbink Robertus J. M. , van Klink Gerard P. M. , van Koten Gerard
Published: October 2007

Dieser Aufsatz gibt einen Überblick über neue Entwicklungen auf dem Gebiet der metallvermittelten organischen Umsetzungen an metallorganischen σ‐Aryl‐Komplexen. Die allgemeine Vorstellung, dass M‐C‐σ‐Bindungen kinetisch labil, hoch reaktiv und unvereinbar mit typischen Reaktionsbedingungen der organischen Synthese sind, hat die Anwendung dieser Synthesestrategien bisher eingeschränkt. Allerdings werden metallvermittelte organische Umsetzungen an metallgebundenen σ‐Aryl‐Fragmenten immer häufiger in industriellen und Laborsynthesen eingesetzt. Die Einfachheit und im Allgemeinen guten Ausbeuten dieser Methoden sind sehr attraktiv für den Aufbau funktionalisierter metallorganischer Bausteine, die als photochemische molekulare Funktionseinheiten, Biosensoren und ‐konjugate sowie molekulare Schalter genutzt werden könnten. Dieser Aufsatz richtet sich daher an eine breitere Leserschaft und soll zum Gebrauch dieser Strategien ermutigen.
Chiralitätsverstärkung in dynamischen supramolekularen Aggregaten
Authors: Palmans Anja R. A. , Meijer E. W.
Published: October 2007

Die Frage nach dem Ursprung der Chiralität in biologischen Systemen löste die Suche nach nichtlinearen Effekten in der Katalyse aus, und man suchte nach Wegen, um ausgehend von minimalen Enantiomerenüberschüssen optisch reine Verbindungen zu erhalten. Intensiv erforscht wurde bereits die Chiralitätsverstärkung in Polymeren als Folge kooperativer Prozesse. Vor zehn Jahren wurde dieser Effekt erstmals auch für nichtkovalente, dynamische supramolekulare Systeme nachgewiesen. Seitdem hat sich gezeigt, dass auch für niedermolekulare Verbindungen eine Chiralitätsverstärkung möglich ist, wenn nichtkovalente Wechselwirkungen wie Wasserstoffbrücken, hydrophobe und π‐π‐Stapelwechselwirkungen aufeinander abgestimmt werden. Wir fassen die Resultate der letzten zehn Jahre zusammen und leiten daraus einige allgemeine Regeln ab. Eine Chiralitätsverstärkung kann zwar immer noch nicht sicher vorhergesagt werden, essenziell sind aber wohl ein ausgewogenes Verhältnis der beteiligten Wechselwirkungen und oftmals die Bildung eines intrinsisch chiralen Objekts sowie kooperative Aggregationsprozesse.
Amplification of Chirality in Dynamic Supramolecular Aggregates
Authors: Palmans Anja R. A. , Meijer E. W.
Published: October 2007

The quest to understand the origin of chirality in biological systems has evoked an intense search for nonlinear effects in catalysis and pathways to amplify slight enantiomeric excesses in racemates to give optically pure molecules. The amplification of chirality in polymeric systems as a result of cooperative processes has been intensely investigated. Ten years ago, this effect was shown for the first time in noncovalent dynamic supramolecular systems. Since then, it has become clear that a subtle interplay of noncovalent interactions such as hydrogen‐bonding, π–π stacking, and hydrophobic interactions is also sufficient to observe amplification of chirality in small molecules. Here we summarize the results obtained over the past decade and the general guidelines we can deduce from them. Predicting amplification of chirality is still impossible, but it appears to be a balance between different types of interactions, the formation of an intrinsically chiral object, and cooperative aggregation processes.
Optimization of combined heat and mass exchanger networks using pinch technology
Authors: Isafiade Adeniyi , Fraser Duncan
Published: October 2007

This article examines the benefits that may be obtained by combining the optimisation of heat and mass exchanger networks. This study uses a Pinch Technology approach to the targeting of Combined Heat and Mass Exchanger Networks (CHAMENs), and illustrates it with application to three examples. The first example has just one external mass separating agent (MSA), the second has both process and external MSAs, and the third is an extension of the second with a heat exchanger network integrated. The major benefits arise when it is possible to cool the process MSA with an excess capacity to remove mass. This reduces the flowrate of the external MSA (since this exists below the pinch) and can even do away entirely with the need for it. This also leads to a reduction in the capital cost requirements of both the process and the external MSAs, as well as a reduction in regeneration costs. The implication of this is that a limitation to the use of the available capacity of process MSAs is their mass exchange temperature. It was also found (in the example in which hot/cold utilities are used to enhance mass exchange) that the mass exchanger network synthesis (MENS) costs generally dominate over the heat exchanger network synthesis (HENS) costs. Other examples presented in this article support these conclusions. Copyright © 2007 Curtin University of Technology and John Wiley & Sons, Ltd.