Miracle-dz/UniFAR-FTUs huggingface dataset:
Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct

Abstract Persistent patency of the arterial duct is one of the most common congenital cardiac malformations. We recently showed that mutations in the MYH11 gene result in a disease combining familial thoracic aortic aneurysm and dissection, along with patency of the arterial duct. It is also known that the smooth muscle myosin heavy chain is involved in the physiological closure of the arterial duct. With this in mind, we investigated whether the MYH11 gene was a susceptibility gene for sporadic occurrence of isolated persistent patency of the arterial duct. We sequenced the entire coding sequence of the MYH11 gene in 60 Caucasian children with persistent patency born after 36 weeks of gestation. The frequencies of rare genetic variants, and single nucleotide polymorphisms, were compared with 192 normal controls. Two possible functional missense mutations were found in two affected individuals. Another rare variant, specifically p.Arg1535Gln, and two coding polymorphisms, namely p.Ala1234Thr and p.Val1289Ala, had allele frequencies similar to those in controls. Haplotype analysis after estimating linkage disequilibrium was carried out using six polymorphisms. Individual genotypes were distributed similarly among cases and controls. Only one of the seven major haplotypes was significantly less frequent among cases, at 0.07, than among controls, when the figure was 0.22 (OR 0.23 [0.08–0.27]). Our findings suggest that the MYH11 gene is involved in only rare instances when persistent patency of the arterial duct occurs in sporadic fashion.
Association Study of PARD3 Gene Polymorphisms With Neural Tube Defects in a Chinese Han Population

Partitioning defective 3 homolog (PARD3) is an attractive candidate gene for screening neural tube defect (NTD) risk. To investigate the role of genetic variants in PARD3 on NTD risk, a case–control study was performed in a region of China with a high prevalence of NTDs. Total 53 single-nucleotide polymorphisms (SNPs) in PARD3 were genotyped in 224 fetuses with NTDs and in 253 normal fetuses. We found that 6 SNPs (rs2496720, rs2252655, rs3851068, rs118153230, rs10827337, and rs12218196) were statistically associated with NTDs (P < .05). After stratifying participants by NTD phenotypes, the significant association only existed in cases with anencephaly rather than spina bifida. Further haplotype analysis confirmed the association between PARD3 polymorphisms and NTD risk (global test P = 3.41e-008). Our results suggested that genetic variants in PARD3 were associated with susceptibility to NTDs in a Chinese Han population, and this association was affected by NTD phenotypes.
Phosphorylated eukaryotic translation initiation factor 4 (eIF4E) is elevated in human cancer tissues

Eukaryotic translation initiation factor 4E (eIF4E) is a rate-limiting factor for cap-dependent protein synthesis and is regulated by PI3 kinase/mTOR and mitogen-activated protein kinase (MAPK)/Mnk signaling pathways. Recent studies have shown that Mnk-mediated eIF4E phosphorylation is absolutely required for eIF4E’s oncogenic function. Overexpression of eIF4E has been reported in many types of cancers; however, the expression of phosphorylated eIF4E (p-eIF4E) in human cancer tissues, particularly solid tumor tissues, has not been reported. The current study focused on evaluating p-eIF4E expression patterns in the tumor tissues obtained from patients with a variety of malignancies. Using three different tissue microarrays consisting of a total of 380 cases of human cancers and 146 cases of adjacent normal tissues, we detected p-eIF4E positive staining in 63.4% (241/380) of cancers, but only in 30.1% (44/146) of adjacent normal tissues. Thus, p-eIF4E expression is significantly higher in cancers than in adjacent normal tissues (P < 0.001). In general, there was no major difference in p-eIF4E staining between cancers with and without lymph node metastasis. In certain types of maligancies such as lung, gastric and colorectal cancers, p-eIF4E staining was significantly higher in the early stage (T1) than in the late stage (T3) disease (P < 0.05). Collectively, these findings suggest that p-eIF4E may play a critical role in cancer development, particularly early stages of tumorigenesis and support p-eIF4E as a good cancer therapeutic target.
The Performance of Methods for Correcting Measurement Error in Case-Control Studies

Background. It is generally agreed that adjustment for measurement error (when feasible) can substantially increase the validity of epidemiologic analyses. Although a broad variety of methods for measurement error correction has been developed, application in practice is rare. One reason may be that little is known about the robustness of these methods against violations of their restrictive assumptions. Methods. We carried out a simulation study to assess the performance of two error correction methods (a regression calibration method and a semiparametric approach) as compared with standard analyses without measurement error correction in case-control studies with internal validation data. Performance was assessed over a wide range of model parameters including varying degrees of violations of assumptions. Results. In nearly all the settings assessed, the semiparametric estimate performed better than all alternatives under investigation. The regression calibration method is sensitive to violations of the assumptions of nondifferential error and small error variance. Conclusions. The semiparametric method is a very robust method to correct for measurement error in case-control studies, but lack of functional software hinders widespread use. If the assumptions for the regression calibration method are fulfilled, application of this method, originally developed for cohort studies, in case-control studies may be a useful alternative that is easy to implement.
Cerebral Hemodynamic Response to Generalized Spike‐Wave Discharges

Summary: Purpose: Data in the literature concerning metabolic demand during generalized spike‐wave activity (gSW) are conflicting. We investigated instantaneous changes in cerebral blood flow velocities (CBFV) in both middle cerebral arteries (MCAs) by transcranial Doppler sonography (TCD) during gSW paroxysms recorded by scalp EEG.
Allogeneic serum eye drops for the treatment of dry eye patients with chronic graft-versus-host disease.

PURPOSE To evaluate the therapeutic effect of allogeneic serum eye drops for the treatment of dry eye in patients with chronic graft-versus-host disease (cGVHD) following bone marrow transplantation. METHODS Sixteen patients with cGVHD following allogeneic hematological stem cell transplantation (allo-SCT) and diagnosed with dry eye syndrome refractory to conventional treatment were prospectively enrolled in this study. Allogeneic serum eye drops were obtained from healthy related donors after serologic testing. Symptom scores, tear breakup time (tBUT), the Schirmer test without anesthesia (Schirmer I test), tear osmolarity, corneal staining score, impression cytology grade, and goblet cell densities were evaluated before and 4 weeks after administration of allogeneic serum eye drops. RESULTS Enrolled patients included 6 females and 10 males between 20 and 61 years of age (mean age, 37.2±11.6 years). After 4 weeks of treatment, the Ocular Surface Disease Index (OSDI) symptom scores decreased significantly (32.5-8.9). Tear osmolarity showed a significant decrease from 311.1 to 285.1 milliosmol. The corneal staining scores significantly decreased from 2.5 to 1.8. Impression cytology grade and goblet cell density improved from 3.4 to 2.4 and from 90.6 to 122.6 cell/mm(2), respectively. tBUT also significantly improved from 2.9 to 4.4 s, and the Schirmer I test results showed improvement, but lacked statistical significance (1.7-2.4 mm). No significant side effects were detected as a result of the allogeneic serum treatment during the follow-up period. CONCLUSIONS Allogeneic serum can be used for the treatment of severe dry eye in patients with cGVHD when autologous serum is unavailable. Care should be taken to avoid the risk of blood-borne diseases.
Chapter XIV Reputation , Reputation System and Reputation Distribution — An Explorative Study in Online Consumer-to-Consumer Auctions

Reputation is an important organization asset, particularly in the era of ecommerce. In an online consumer-to-consumer (C2C) auction market, a trader’s reputation sends an important signal to his trading partners in their decision-making, due to the nature of the anonymous transaction process. While prior research has shown that reputation systems, such as eBay’s
Success Rate of Gingivoperiosteoplasty with and without Secondary Bone Grafts Compared with Secondary Alveolar Bone Grafts Alone

Background: Gingivoperiosteoplasty has been shown to eliminate the need for secondary alveolar bone grafting in 60 percent of patients. The purpose of this study was to compare radiographic alveolar anatomy following infant gingivoperiosteoplasty, secondary alveolar bone grafting, and secondary alveolar bone grafting in patients who had prior infant gingivoperiosteoplasty with inadequate bone formation. Methods: Seventy-four consecutive nonsyndromic patients (complete bilateral cleft lip–cleft palate, n = 12; complete unilateral cleft lip–cleft palate, n = 46; complete unilateral cleft lip and alveolus, n = 14) treated at New York University Medical Center were available for evaluation. Eighty-two complete alveolar cleft sites were assigned to three groups: gingivoperiosteoplasty (n = 30), secondary alveolar bone grafting (n = 41), and secondary alveolar bone grafting following gingivoperiosteoplasty (n = 11). All gingivoperiosteoplasties were performed at the time of primary lip surgery, and secondary alveolar bone grafting (cancellous iliac crest at 7 to 12.5 years of age) was performed before eruption of the permanent canine. Radiographs were measured according to the modified method of Long. Results: Seventy-three percent of gingivoperiosteoplasty cases did not require secondary alveolar bone grafting and none had fistulas. The rate of missing teeth in the total sample, adjacent to the cleft, was within normal limits for the population. Group 1 alone and groups 1 and 3 combined had superior alveolar anatomy compared with group 2 (p < 0.01). No significant differences existed between groups 1 and 3 (p > 0.05). Crest height was best in group 1 (p < 0.01), followed by group 3 and then group 2, with no difference between the latter two groups. Conclusion: Gingivoperiosteoplasty alone or combined with secondary alveolar bone grafting results in superior bone levels when compared with conventional secondary alveolar bone grafting alone.
Wave length scaled scanning of the Solar Orbiter/RPW antennas: First results

In this contribution we outline our newest results in finding the true properties of the RPW antennas aboard Solar Orbiter with emphasis on our near-field measurement campaign and corresponding computer simulation. In the course of the project a scale model of the Solar Orbiter spacecraft was manufactured and placed in an anechoic near-field facility. The measurement campaign includes wave-length scaled illumination and scanning of the scale model antennas for finding individual radiation pattern, as well as measurements of the antenna scattering parameters. Overarching goal of the project was to investigate the possibility of using scale model measurements for verification of E-field instrument sensors in the regime above the quasi-static range, as well as provide useful calibration results for the RPW instrument team, allowing significant improvements of the corresponding scientific data analysis.
Cloning and Characterization of Naringenin 8-Prenyltransferase , a Flavonoid-Specific Prenyltransferase of Sophora flavescens 1 [ W ]

Prenylated flavonoids are natural compounds that often represent the active components in various medicinal plants and exhibit beneficial effects on human health. Prenylated flavonoids are hybrid products composed of a flavonoid core mainly attached to either 5-carbon (dimethylallyl) or 10-carbon (geranyl) prenyl groups derived from isoprenoid (terpenoid) metabolism, and the prenyl groups are crucial for their biological activity. Prenylation reactions in vivo are crucial coupling processes of two major metabolic pathways, the shikimate-acetate and isoprenoid pathways, in which these reactions are also known as a rate-limiting step. However, none of the genes responsible for the prenylation of flavonoids has been identified despite more than 30 years of research in this field. We have isolated a prenyltransferase gene from Sophora flavescens, SfN8DT-1, responsible for the prenylation of the flavonoid naringenin at the 8-position, which is specific for flavanones and dimethylallyl diphosphate as substrates. Phylogenetic analysis shows that SfN8DT-1 has the same evolutionary origin as prenyltransferases for vitamin E and plastoquinone. The gene expression of SfN8DT-1 is strictly limited to the root bark where prenylated flavonoids are solely accumulated in planta. The ectopic expression of SfN8DT-1 in Arabidopsis thaliana resulted in the formation of prenylated apigenin, quercetin, and kaempferol, as well as 8-prenylnaringenin. SfN8DT-1 represents the first flavonoid-specific prenyltransferase identified in plants and paves the way for the identification and characterization of further genes responsible for the production of this large and important class of secondary metabolites.
Diet and Physical Activity Dietary Quality Predicts Adult Weight Gain : Findings from the Framingham Offspring Study

QUATROMONI, PAULA A. , MICHAEL PENCINA, MARK R. COBAIN, PAUL F. JACQUES, AND RALPH B. D’AGOSTINO. Dietary quality predicts adult weight gain: findings from the Framingham Offspring Study. Obesity. 2006;14:1383–1391. Objective: We tested the hypothesis that dietary quality, measured by adherence to the Dietary Guidelines, was related to weight change in adults. Research Methods and Procedures: Dietary intake was assessed among 2245 adult men and women (average age, 49 to 56 years) in the Framingham Offspring cohort. Threeday dietary records were collected in 1984 to 1988 and again in 1991 to 1996. Weight change was measured over 8 years after each assessment. A five-point diet quality index (DQI) was computed based on mean nutrient intake levels from each set of diet records. One DQI point was contributed for each of five nutrients if intake met Dietary Guidelines for total and saturated fat, cholesterol, sodium, and carbohydrate. Gender-specific generalized estimating equations pooled data across the two assessments to relate DQI to 8-year weight gain. Results: Men and women with higher DQI scores gained less weight during follow-up (p 0.05). Average gain over 8 years was 3 pounds among those with highest scores, compared with 5 to 8 pounds among those with lower scores. Smoking cessation was an important predictor of weight gain, accounting for about a 5to 9-pound difference in weight gain. Discussion: A high-quality diet, one that is consistent with the Dietary Guidelines, may help curb rising rates of obesity at the population level. Poor compliance with the Guidelines, rather than the guidelines themselves, is likely responsible for the weight gain observed in the American population. Adoption of an eating pattern consistent with the Dietary Guidelines should facilitate population weight control if sustained long term.
Measuring Collocation Tendency of Words

Abstract In all natural languages, some words collocate with other words to create multi-worded blocks of meaning – the collocations. Since identification of collocations is vital for information retrieval, language learning, psycholinguistics, authorship determination and translation, collocation extraction is an important issue in natural language processing. In this paper we present a method which is designed to improve current statistical methods that generate ranked lists of collocation candidates. Due to meaning integrity, any word in a collocation must suggest or at least imply the subsequent words composing the collocation. As a result, we may state that the words in a random text differ in the tendency to facilitate the prediction of the next word. If a word helps the prediction then it tends to collocate, otherwise it does not. In this paper, an attempt has been made to extract collocations by measuring collocation tendency of words and word combinations. The method used is to filter out free word pairs (the words that do not facilitate the prediction of the next word or those in which meaning integrity has not been completed yet) in the lists of candidate pairs. Collocation tendency method is tested on a base data set extracted by some statistical collocation extraction techniques (frequency of occurrence, point-wise mutual information, the t-test, chi-square techniques) and is evaluated by precision and recall measures. We have found that collocation tendency method brings a remarkable improvement on frequency of occurrence and the t-test techniques.
Falx Cerebri Giant Chondroma — Case Report

Intracranial chondromas are rare skull base tumors, but those arising from the falx cerebri are extremely rare. Of our knowledge, there have been reported no more than seventeen cases. Surgical gross removal of falx chondroma is associated with good outcome. We bring into focus the case of a large falcine chondroma and discuss its diagnosis, surgical management and prognosis.
Identification of human herpesvirus 6 variants A and B by amplimer hybridization with variant-specific oligonucleotides and amplification with variant-specific primers

Two distinct PCR-based procedures were evaluated for the detection and identification of human herpesvirus 6 (HHV-6) variants A and B in uncultured human samples. Variant-specific oligonucleotide hybridization (VSOH) is based on the amplification of two distinct regions of the HHV-6 genome, followed by hybridization of amplimers with variant-specific oligonucleotide probes. Variant-specific primer PCR (VSPP) is based on the amplification of each variant by using variant-specific primers. The study of 10 well-characterized HHV-6 strains allowed us to demonstrate the high sensitivity and specificity of both methods. With variant mixtures, however, some limitations of VSOH were evidenced and VSPP was required to obtain unambiguous results. The combination of VSOH and VSPP was applied to the direct study of 300 peripheral blood mononuclear cell samples from French subjects. HHV-6 was detected in 15 samples: 11 corresponded to variant B, 3 corresponded to variant A, and 1 corresponded to a mixture of both variants.
Fundamental differences between the thalamocortical recipient layers of the cat auditory and visual cortices

In visual and somatosensory cortices of several species, spiny stellate cells in layer 4 are the first elements in signal processing where thalamic information is integrated and emergent receptive field properties are generated and sent on to more superficial cortical layers. In vivo and in vitro experiments have provided important information about how the anatomy and physiology of these cells and this layer fit into the functional cortical circuitry. No such data exist for the auditory cortex but are requisite if we are to understand whether ideas about information processing in one sensory cortical area can be generalized to another. Accordingly, we used in vitro slices from which to record and labeled cells in the middle layers of the cat auditory and visual cortices to compare basic anatomical and physiological features of cells recovered in similar layers using the same methods. Our results demonstrate a striking difference in a basic characteristic of two primary sensory cortical areas. In the visual cortex, spiny stellate cells predominate, receive short‐latency synaptic inputs, and project to supergranular layers. No such spiny stellate population is encountered in the middle layers of the auditory cortex. Spiny cells that are not stellate or pyramidal are occasionally encountered but, as a group, do not display consistent anatomical or physiological features that might allow them to function as auditory cortical versions of the visual spiny stellates. Rather, pyramidal cells in the lower half of layer 3 and layer 4 appear to have assumed this role. J. Comp. Neurol. 436:508–519, 2001. © 2001 Wiley‐Liss, Inc.
Spermatocytic seminoma as compared to classical seminoma: An immunohistochemical and DNA flow cytometric study

Based on immunohistochemistry (IHC) and DNA ploidy, different paths of carcinogenesis have been suggested for spermatocytic seminoma (SS) and classical seminoma (CS). The present study extends current knowledge on the above parameters. Method. Seventeen SSs and twenty‐two CSs were assessed by IHC for placental‐like alkaline phosphatase (PLAP), c‐kit, cytokeratin and adhesion carbohydrate molecyles. All SSs and 11 CSs were also analysed for DNA ploidy. Results. All CSs, but none of the SSs, were positive for PLAP. C‐kit positivity was found in 7 of 17 SSs and in all CSs. The other IHC parameters were similarly distributed among the evaluated SSs and CSs. Fourteen SSs were diploid or polyploid, and three were aneuploid. All CSs were aneuploid. Conclusion. The new observation of c‐kit positivity in about 40% of SSs suggests that at least some of the SSs originate from primordial cells. The predominantly diploid or polyploid DNA pattern indicates that SSs follow a pathogenetic pathway which is most probably different from that of CSs.
Preservation of the Pylorus in Pancreaticoduodenectomy: A Follow‐up Evaluation

We have previously reported our efforts to minimize postgastrectomy symptoms in two patients with benign disease who underwent resection of the head of the pancreas and the duodenum. In these cases the pylorus and first portion of the duodenum were preserved during pancreaticoduodenectomy. Our experience has now been extended to encompass 18 patients, eight of whom were available for comprehensive evaluation an average of six months postoperation. These studies have attempted to differentiate malabsorption of pancreatic insufficiency from possible gastrointestinal dysfunction of the new alimentary connection. Pancreatic insufficiency was evaluated by a 72-hour stool collection and radioactive trioctanoate (RATO) test. Gastrointestinal absorption was evaluated by D-xylose excretion and the Schilling test, as well as serum vitamin A, vitamin B-12, carotene, folate, iron, and total iron binding capacity. Gastrointestinal secretion and motility were assessed by using pyloric fluoroscopy, gastric barium emptying, the Hunt test, and gastric acid analysis. Finally, a questionnaire regarding clinical symptoms of postgastrectomy syndromes and malabsorption was answered. Although every patient exhibited marked pancreatic insufficiency by laboratory tests, 88% described normal formed bowel movements, and weight loss was claimed by only 25%. Other test findings were generally normal. While the follow-up period has been limited to three years, the current data demonstrate that gastrointestinal function subsequent to preservation of the pylorus has not thus far predisposed to postgastrectomy syndromes or marginal ulcers. AH of the patients required intensive pancreatic enzyme replacement.