Miracle-dz/UniFAR-FTUs huggingface dataset:
Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

Purpose: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses.Methods: A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' α-subunit mutations (β-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course.Results: Twenty-one patients (current mean age: 27.0 years; range: 14–47 years) were identified. The pedigree revealed a relative with the “classic” infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the β-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N = 1) or heterozygosity (N = 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N = 18) tested, regardless of disease stage.Conclusions: Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later-onset of expression results from the presence of at least one allele (usually the G269S mutation), associated with residual enzyme (β-hexosaminidase A) activity. A positive family history is a valuable clue, enabling early diagnosis. Nonspecific cerebellar atrophy on brain imaging is another important finding. This entity should be considered among patients presenting with speech, gait, and balance problems, and those with psychiatric disorders even when focal neurologic deficits may be initially absent. Accurate diagnosis will permit appropriate genetic counseling regarding disease prognosis and reproductive risks.
Genome Analysis Gene Discovery and Tissue-Specific Transcriptome Analysis in Chickpea with Massively Parallel Pyrosequencing and Web Resource Development 1

Chickpea (Cicer arietinum) is an important food legume crop but lags in the availability of genomic resources. In this study, we have generated about 2 million high-quality sequences of average length of 372 bp using pyrosequencing technology. The optimization of de novo assembly clearly indicated that hybrid assembly of long-read and short-read primary assemblies gave better results. The hybrid assembly generated a set of 34,760 transcripts with an average length of 1,020 bp representing about 4.8% (35.5 Mb) of the total chickpea genome. We identified more than 4,000 simple sequence repeats, which can be developed as functional molecular markers in chickpea. Putative function and Gene Ontology terms were assigned to at least 73.2% and 71.0% of chickpea transcripts, respectively. We have also identified several chickpea transcripts that showed tissue-specific expression and validated the results using real-time polymerase chain reaction analysis. Based on sequence comparison with other species within the plant kingdom, we identified two sets of lineage-specific genes, including those conserved in the Fabaceae family (legume specific) and those lacking significant similarity with any non chickpea species (chickpea specific). Finally, we have developed a Web resource, Chickpea Transcriptome Database, which provides public access to the data and results reported in this study. The strategy for optimization of de novo assembly presented here may further facilitate the transcriptome sequencing and characterization in other organisms. Most importantly, the data and results reported in this study will help to accelerate research in various areas of genomics and implementing breeding programs in chickpea.
Characteristics of cardiac and vascular structure and function in Prader–Willi syndrome

Objective Prader–Willi syndrome (PWS) is a genetic obesity syndrome characterized by hyperphagia, behavioural disturbance and intellectual disability. PWS appears to be associated with a high incidence of sudden death, suspected to be cardiopulmonary in origin. We therefore sought to provide an assessment of cardiac and vascular structure and function in patients with PWS.
Evaluation of dehulled faba bean ( Vicia faba cv. Fiord) as a protein source for laying hens

Dehulled faba beans were evaluated as an alternative to soybeans as a protein source for laying hens using 240 individually caged birds, 50 weeks of age. Two basal feeds were formulated to the same nutrient specifications but with one containing no faba beans and the other containing 200 g dehulled faba bean meal/kg. The experiment was divided into two parts: a dilution series, and a choice feeding treatment. The dilution series consisted of increasing concentrations of faba beans, the five levels in the series being 0, 50, 100, 150 and 200 g/kg of food. The sixth treatment was a choice between the two basal feeds. Although food intake increased linearly with faba bean inclusion, reflecting a need by the hens to consume more in an attempt to obtain sufficient of some unidentified limiting nutrient, laying performance was the same on all feeds in the dilution series. Hens consumed the same amount of each basal feed when given a choice between the two, suggesting that no anti-nutritional factors were present in the faba beans used in this trial. It can be concluded, from a nutritional point of view, that dehulled faba bean meal may be used successfully as an alternative to soybeans as a source of amino acids for laying hens as long as the levels of antinutritional factors present are very low, as was the case in this trial, and as long as accurate estimates of the AME and the digestible amino acid contents of the ingredient are used when formulating feeds containing faba beans. If faba beans can be grown and then used locally in areas unsuitable for soybean production, the reduced transport cost could make this an attractive alternative to soybeans. Keywords: Anti-nutritional factors, protein sources, choice feeding
Peroxisome Formation Requires the Endoplasmic Reticulum Channel Protein Sec61

In peroxisome formation, models of near‐autonomous peroxisome biogenesis with membrane protein integration directly from the cytosol into the peroxisomal membrane are in direct conflict with models whereby peroxisomes bud from the endoplasmic reticulum and receive their membrane proteins through a branch of the secretory pathway. We therefore reinvestigated the role of the Sec61 complex, the protein‐conducting channel of the endoplasmic reticulum (ER) in peroxisome formation. We found that depletion or partial inactivation of Sec61 in yeast disables peroxisome formation. The ER entry of the early peroxisomal membrane protein Pex3 engineered with a glycosylation tag is reduced in sec61 mutant cells. Moreover, we were able to reconstitute Pex3 import into ER membranes in vitro, and we identified a variant of a signal anchor sequence for ER translocation at the Pex3 N‐terminus. Our findings are consistent with a Sec61 requirement for peroxisome formation and a fundamental role of the ER in peroxisome biogenesis.
Explanations of body image disturbance: a test of maturational status, negative verbal commentary, social comparison, and sociocultural hypotheses.

OBJECTIVE A number of hypotheses have been offered to explain the development and/or maintenance of body image disturbance. In this study, four factors which have been hypothesized to lead to body image problems were tested: maturational status (early physical development), negative verbal commentary (a history of being teased regarding physical appearance), behavioral social comparison, and awareness/internalization of sociocultural pressures. METHODS One hundred sixty-two college females completed measures designed to index these four influences. Predictors were regressed onto multiple measures of body image and two indices of eating disturbance. RESULTS Even with self-esteem and level of obesity removed as influences, social comparison and societal factors were significant predictors of body dissatisfaction and eating disturbance. Negative verbal commentary also explained a small part of the variance, however, maturational status did not contribute uniquely in any analysis. DISCUSSION The findings offer further support for emerging theories of body image and eating disturbance.
An Overview of the Electromagnetic Simulation-Based Channel Modeling Techniques for Wireless Body Area Network Applications

Electromagnetic simulation-based channel modeling is presently considered as a promising option for wireless body area network (WBAN) channel modeling. The benefits of simulation-based channel modeling are obvious: realistic channel characteristics for required environments and situations are provided flexibly and cheaply. In addition, the use of simulation-based channel modeling may overcome several challenges related to the use of measurement data, such as uncertainties and inaccuracies due to cabling, unintentional changes in the position of the test person or the antennas and so on. There are several numerical methods suitable for simulation based-channel modeling, both full-wave and an asymptotic solutions. The choice of the numerical approach depends on the nature of the communication links of the wireless body network being considered. This paper presents a general overview, including recent progress, of the electromagnetic simulation-based WBAN channel modeling techniques. Advantages, disadvantages, and the most appropriate applications are described. Furthermore, the features of the different techniques are compared.
Antimicrobial Resistance , and Antimicrobial Management of Invasive Salmonella Infections

John A. Crump, Maria Sjölund-Karlsson, Melita A. Gordon, Christopher M. Parry Centre for International Health, University of Otago, Dunedin, Otago, New Zealand; Division of Foodborne, Waterborne, and Environmental Diseases, National Center for Emerging and Zoonotic Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia, USA; Department of Clinical Infection, Microbiology and Immunology, Institute of Infection and Global Health, University of Liverpool, Liverpool, United Kingdom; Malawi-Liverpool-Wellcome Trust Clinical Research Programme, Blantyre, Malawi; School of Tropical Medicine and Global Health, Nagasaki University, Nagasaki, Japan; Department of Clinical Research, London School of Hygiene and Tropical Medicine, London, United Kingdom; Department of Clinical Sciences, Liverpool School of Tropical Medicine, Liverpool, United Kingdom
Anticipatory planning of r-insertion in Australian English

In non-rhotic Australian English, glottalization and ‘r’ insertion are strategies used to separate contiguous heterosyllabic vowels (hiatus). This study examined hiatus breaking strategies to determine whether realisation and incidence differed as a function of prosodic context. We were also interested in whether inserted ‘r’ exhibited preplanning. In an elicited production task, 14 nonrhotic Australian English speakers produced sentences containing two types of coda-less monosyllabic target noun (e.g. paw containing no orthographic ‘r’, and door containing orthographic ‘r’). These were followed by an onset-less preposition (of, under, above) (e.g., ‘This is the paw of the dog’). The incidence of inserted ‘r’ did not vary significantly across prosodically controlled but orthographically different contexts. However, the nature of the following preposition affected the choice of ‘r’ vs. glottalization. Importantly, for those speakers who produced auditorily identified ‘r’, we observed anticipatory F3 lowering in the vowel preceding inserted ‘r’ indicating non-local planning.
Phase II study of topotecan in patients with extensive-stage small-cell carcinoma of the lung: an Eastern Cooperative Oncology Group Trial.

PURPOSE To determine the response rate and survival of chemotherapy-naive patients with extensive-stage small-cell lung cancer (SCLC) treated with topotecan, and to determine the relationship of topotecan pharmacokinetics with response and toxicity. PATIENTS AND METHODS Forty-eight patients with previously untreated, extensive-stage SCLC received 2.0 mg/m2 of topotecan daily for 5 days. The first 13 patients were treated without colony-stimulating factor (CSF) support; the next 35 patients received 5 micrograms/kg of granulocyte-colony-stimulating factor (G-CSF) for 10 to 14 days starting on day 6. Cycles were repeated every 3 weeks for a maximum of four cycles. Patients who had a partial response to topotecan after four cycles, stable disease after two cycles, or progressive disease at any time received salvage chemotherapy with cisplatin and etoposide. Topotecan pharmacokinetics were measured using a four-point sampling scheme. RESULTS Of 48 patients, none had a complete response and 19 had a partial response, for an objective response rate of 39% (95% confidence interval [CI], 25.2% to 53.0%). The median response duration was 4.8 months (95% CI, 3.0 to 7.3). After a median follow-up duration of 18.2 months, the overall median survival time was 10.0 months (95% CI, 8.2 to 12.7); the 1-year survival rate was 39% (95% CI, 25.2% to 53.0%). Eight of 34 patients (24%) who received salvage chemotherapy responded. Four of 17 patients who did not respond to first-line therapy with topotecan responded to cisplatin and etoposide. The most common toxicity was hematologic. Ninety-two percent of patients treated without G-CSF developed grade 3 or 4 neutropenia, compared with 29% who received G-CSF. However, the incidence of neutropenic fevers was similar between the two groups (8% and 11%, respectively), and one patient in each group died of neutropenic fevers. There were no differences in objective tumor response, duration of response, time to treatment failure, or survival between the 13 patients who entered the study before G-CSF administration was mandated and the 35 patients who entered after and received G-CSF. There was poor correlation between the WBC count and absolute neutrophil counts (ANCs) and both the area under the curve (AUC) and maximum concentration++ (Cmx) of total topotecan in plasma. There was no correlation between the tumor response and either AUC or Cmx of total topotecan. CONCLUSION The activity of topotecan in extensive-stage SCLC noted in this study warrants further investigation of this agent in phase III clinical trials.
The influence of sex on the haematological values of apparently healthy adult Nigerian Sahel goats

Blood samples were collected from fifty apparently healthy adult Sahel goats, twenty five each of male and female in Maiduguri to assess the influence of sex on their haematology. The red blood cell (RBC) counts, white blood cell (WBC) counts, haemoglobin (Hb) concentration, packed cell volume (PCV), platelet counts, neutrophils, eosinophils, lymphocytes, monocytes and basophils counts were determined. The mean corpuscular volume (MCV), the mean corpuscular haemoglobin (MCH) and mean corpuscular haemoglobin concentration (MCHC) were also determined. The RBC, WBC, MCH and neutrophil values were higher (P 0.05) in both sexes. The variations may be due to breed idiosyncrasies or inherent sex differences among male and female Sahel goats. The haematological values obtained in this study were significant, but did not differ from the normal values for caprine species. In conclusion, sex significantly influenced the RBC, WBC, MCV, MCH, platelet, neutrophil, eosinophil and monocyte values in this study. Keywords : Haemogram, Maiduguri, Nigeria, Sahel Goats, Sex
Upstaging by vessel invasion improves the pathology staging system of non-small cell lung cancer.

BACKGROUND There is a need for a more complete classification system of lung cancer. To address this issue, we assessed whether the new staging could differentiate patients with early-stage cancers who have poorer prognosis and improve the unbalanced patient numbers with overlapping prognoses arising from the current TNM staging system. METHODS The study included 995 patients with pathology stages I and II non-small cell lung cancer (NSCLC) who underwent surgical resection at two institutions. We subclassified patients with stage IA and IB NSCLC based on the presence of vessel invasion (Vi). Stage IA Vi and stage IB non-Vi were combined into new stage IB, as were stages IB Vi and IIA into new stage IIA. RESULTS The numbers of patients of stages IA, IB, IIA, and IIB were 477, 314, 55, and 149, and their 5-year survival rates were 86.0%, 66.2%, 60.7%, and 50.4%, respectively. Vi groups showed significantly poorer prognosis than non-Vi groups at stage IA (p = 0.011) and at stage IB (p = 0.036). The numbers of patients of new stages IA, IB, and IIA were 333, 260, and 253, and their 5-year survival rates were 88.7%, 76.4%, and 61.2%, respectively. Regression analysis indicated that the new staging improved predictability of overall survival according to disease stage, and Akaike information criterion (3023.7) was significantly lower than that for current staging system (3032.5). CONCLUSION Upstaging of Vi groups allows differentiation of patients with early-stage cancers with poor prognosis and improves the unbalanced numbers of patients and prediction of prognosis in cases of lung cancer.
Sincere Social Capital with Material Status Sensitivity: Index and an Inverted U-Shaped Utility-Wealth Theory

This paper explores a possible effect of social capital on the relationship between utility and wealth. Material status sensitivity is considered in constructing the individual social-capital index. The incorporation of the index into the individual’s utility function leads to the proposition that if utility is directly increased by wealth but indirectly reduced by diminishing intensity and quality of sincere social interaction as the material-status-gape widens, there exists an inverted U-shaped relationship between utility and wealth. People located in the lower and upper tails of the wealth distribution are less content and hence more vulnerable to depression.
Inhibition of Osteosarcoma Cell Proliferation by the Hedgehog-Inhibitor Cyclopamine

Abstract Osteosarcomas (OS) are the most frequent primary malignant bone tumors in humans. Even though OS are chemosensitive, about 30% of patients must be considered poor responders and consequently have a dismal long term prognosis. The Hedgehog (Hh) gene is crucial in the signalling pathways of proliferation and differentiation during embryonic development. There is evidence that uncontrolled activation of this pathway results in specific types of cancer and that inhibition of Hh signalling is able to suppress tumour growth and to induce apoptosis of neoplastic cells. This study investigates the impact of the steroidal alkaloid and Hh-inhibitor cyclopamine on osteosarcoma cells. Thus we demonstrate the drug's impact on cellular proliferation, cell cycle cell death as well as the cells' metabolism. We here demonstrate that cyclopamine exhibits a high efficacy against the osteosarcoma cell lines HOS, SaOS and OS-KA, a self-established primary osteosarcoma cell line. In particular, cyclopamine is able to inhibit proliferation and to promote cell death. Our results provide evidence for the potency of the Hh-inhibitor cyclopamine as a future treatment of osteosarcomas.
Current controversies in prenatal diagnosis 3: for prenatal diagnosis, should we offer less or more than metaphase karyotyping?

Caroline M. Ogilvie1, Yuval Yaron2*, and Arthur L. Beaudet3 1Cytogenetics Department, Guy’s & St Thomas’ NHS Foundation Trust, 5th Floor, Tower Wing, Great Maze Pond, London SE1 9RT, UK 2Prenatal Genetic Diagnosis Unit, Genetic Institute, Sourasky Medical Center, Tel Aviv, Israel 3Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
Dual sequence current controller without current sequence decomposition implemented on DSRF for unbalanced grid voltage conditions

Dual sequence current control is the key technique for grid-connected voltage source converter to ensure the performance or fulfill grid requirement under unbalanced grid voltage conditions. In this paper, after reviewing and analyzing the existing dual sequence current controller (DSCC), a simple DSCC is proposed based on double synchronous reference frame (DSRF) without the need of current sequence decomposition. The positive-sequence current is controlled in the positive SRF with a PI controller, while the negative-sequence current is controlled in the negative SRF only with an integrator controller. To avoid the ineffectiveness of the inductor current feed-forward (ICFF) decoupling technique in DSRF, only the decoupling components in the positive SRF is performed. This ensures the same performance with the conventional current controller under normal grid voltage conditions. Further, a new decoupling technique with reference current feed-forward can be optionally employed to provide decouple effect for both positive-sequence and negative-sequence current control. Simulation results will demonstrate the validity of the proposed DSCC.
Neurofibrillar long-range amacrine cells in mammalian retinae

A distinct population of wide-field, unistratified amacrine cells are shown to be selectively stained by using neurofibrillar methods in rabbit and cat retinae. Their cell bodies may be located in the inner nuclear, inner plexiform or ganglion cell layers and they branch predominantly in stratum 2 of the inner plexiform layer. Characteristically, each cell has two or more long-range distal processes which extend for 2-3 mm beyond a more symmetrical, proximal dendritic field of 0.6-0.8 mm diameter. Although the neurofibrillar long-range amacrines account for less than 1 amacrine in 500, they achieve effective coverage of the retina by both the proximal and distal dendrites.
Exploring the continuance intentions of consumers for B2C online shopping: perspectives of fairness and trust

Purpose – Like any product purchases, the success of online shopping depends largely on user satisfaction and other factors that further affect customers' intentions to continue shopping online (continuance intentions). This study seeks to integrate fairness theory with the trust concept to construct a model for investigating consumers' continuance intentions toward online shopping.Design/methodology/approach – An online survey collected data from 226 users with online shopping experience to empirically validate the hypothesised model.Findings – The results indicate that distributive fairness and interactional fairness exert significant positive effects on customers' satisfaction and trust in vendors. Satisfaction is a strong predictor of the continuance intentions of consumers. However the fact that the relationship between trust in vendors and consumers' continuance intentions is insignificant offers insight into trust: consumers continue shopping online with certain levels of misgiving.Originality/valu.