Miracle-dz/UniFAR-FTUs huggingface dataset:
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.

Cystinuria is an inherited disease characterized by the formation of cystine calculi in the kidneys, ureters, and bladder. Cystinuria is associated with mutation in the SLC3A1 and SLC7A9 genes. These defects prevent appropriate reabsorption of dibasic amino acids lysine, ornithine, and arginine. Cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). In molecular term, cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). This report describes 7 patients with early onset of cystine calculus formation. We are report a new mutation in SLC3A1 gene in exon 1. A novel nucleotide substitution c. -29A>G was found in exon 1 of the SLC3A1 gene, which had not been reported elsewhere previously.
Rib truncations and fusions in the Sp2H mouse reveal a role for Pax3 in specification of the ventro-lateral and posterior parts of the somite.

The splotch (Pax3) mouse mutant serves as a model for developmental defects of several types, including defective migration of dermomyotomal cells to form the limb musculature. Here, we describe abnormalities of the ribs, neural arches, and acromion in Sp2H homozygous embryos, indicating a widespread dependence of lateral somite development on Pax3 function. Moreover, the intercostal and body wall muscles, derivatives of the ventrolateral myotome, are also abnormal in Sp2H homozygotes. Pax3 is expressed in the dermomyotome, but not in either the sclerotome or the myotome, raising the possibility that Pax3-dependent inductive influences from the dermomyotome are necessary for early specification of lateral sclerotome and myotome. Support for this idea comes from analysis of gene expression markers of lateral sclerotome (tenascin-C and scleraxis) and myotome (myogenin, MyoD, and Myf5). All exhibit ventrally truncated domains of expression in Sp2H homozygotes, potentially accounting for the rib and intercostal muscle truncations. In contrast, the medial sclerotomal marker Pax1 is expressed normally in mutant embryos, arguing that Pax3 is not required for development of the medial sclerotome. Most of the somitic markers show ectopic expression in anteroposterior and mediolateral dimensions, suggesting a loss of definition of somite boundaries in splotch and explaining the rib and muscle fusions. An exception is Myf5, which is not ectopically expressed in Sp2H homozygotes, consistent with the previous suggestion that Pax3 and Myf5 function in different pathways of skeletal myogenesis. PDGFalpha and its receptor are candidates for mediating signalling between myotome and sclerotome. We find that both genes are misexpressed in Sp2H embryos, suggesting that PDGFalpha/PDGFRalpha may function downstream of Pax3, accounting for the close similarities between the splotch and Patch mutant phenotypes. Our findings point to additional regulatory functions for the Pax3 transcription factor, apart from those already demonstrated for development of the neural tube, neural crest, and dermomyotome.
QRD based tree search data detection for MIMO communication systems

Due to the capacity achievable, multiple-input/multiple-output (MIMO) systems has gained popularity in recent years. While several data detection algorithms are available for MIMO systems, simple algorithms usually perform unsatisfactorily, while more complex ones are infeasible for hardware implementation. In this paper, we compare two QRD based tree search algorithms which can be likely candidates for implementation purposes due to their relatively low computational complexity. The QRD-M algorithm proposed in (J Yue, et al, 2003) yields near-M L performance while only requiring a fraction of the computational complexity of an ML receiver. The QRD-stack algorithm displays similar performance. The performance of both QRD-M and QRD-stack algorithms are compared and while both algorithms achieve near-ML performance, the QRD-stack algorithm is shown to be more efficient and has a much lower computational complexity as compared to QRD-M.
An event-driven architecture for controlling behaviors of the office conversant mobile robot, Jijo-2

In order for our office conversant robot to take robust actions according to events rising from different kind of sensors, a layered process network architecture based on an event-driven control model is presented. In this architecture, high level modules are freed from time consuming checking of sensors, and are able to follow multiple scenario-driven consistent behaviors, allowing interruption from human and environment. Programs are written as series of event-action pairs, which are also effective to keep reactiveness and modularity high.
A  $\mu $ NMR CMOS Transceiver Using a Butterfly-Coil Input for Integration With a Digital Microfluidic Device Inside a Portable Magnet

This paper describes a 20 MHz micro-nuclear magnetic resonance (μNMR) transceiver (TRX) featuring a butterfly-coil input for chemical/biological assays. It enables integration with a 2D multi-electrode digital microfluidic (DMF) device inside a space-limited portable magnet (0.46 T, 1.25 kg), making multi-sample management compatible with μNMR measurements, and supporting electronic automation. The transmitter (TX) incorporates a pulse-sequence synthesizer followed by an inverter-based power amplifier (PA), to emit the exciting pulses for magnetizing the protons of the samples. For the receiver (RX), it is headed by a multi-stage low-noise amplifier (LNA) using NMOS-PMOS-complementary differential pairs, achieving a sub-nV/√Hz input-referred noise at low power. Sixth-order Butterworth low-pass filters constitute the core of the RX I/Q baseband. Their source-follower-based topology allows fast and coherent scaling of all poles by the bias current, reducing the dead-time of the RX for better sensitivity. Fabricated in 0.18 μm CMOS, the TRX occupies a die area of 2.1 mm2, consumes 6.6/23.7 mW of power in the TX/RX mode, and demonstrates the feasibility of electronic-automated biological (avidin) and chemical (CuSO4) assays achieving a detection limit on avidin of 0.2 pmol.
Detection of Circulating Tumour Cells and Survival of Patients with Non-small Cell Lung Cancer.

BACKGROUND Detection of circulating tumour cells (CTCs) in the peripheral blood of lung cancer patients may predict survival. Various platforms exist that allow capture of these cells for further analysis; little work however, has been done with the ScreenCell device, an antibody-independent CTC platform. The aim of our study was to evaluate the ScreenCell device for detection of CTCs in lung cancer patients and to establish correlations of these findings with survival. MATERIALS AND METHODS Twenty-three patients, nine males, and fourteen females, underwent surgical treatment from February to May 2014 for non-small cell lung cancer. Thirteen patients had adenocarcinoma and ten squamous cell carcinoma, while eight were at an early stage (I-II) and five at a later stage (III-IV). Blood samples were obtained prior to surgery and following filtration through the ScreenCell device, were independently reviewed by 2 consultant pathologists. RESULTS The pathologists were able to independently identify CTCs in 78.3% (N=18) and 73.9% (N=17) of the cases examined, with overall 80.6% in early stages compared to 60.0% in late stages. The median survival times of positive vs. negative for CTC patients were 1011 and 711 days respectively, with a survival percentage rate of 77.8% and 60% in positive and negative CTC cohorts respectively. CONCLUSION The results of this study suggest that the presence of CTCs analyzed by ScreenCell did not necessarily lead to a poorer prognosis in patients with lung cancer after curative surgery.
The history and meaning of the journal impact factor.

IFIRST MENTIONED THE IDEA OF AN IMPACT FACTOR IN Science in 1955. With support from the National Institutes of Health, the experimental Genetics Citation Index was published, and that led to the 1961 publication of the Science Citation Index. Irving H. Sher and I created the journal impact factor to help select additional source journals. To do this we simply re-sorted the author citation index into the journal citation index. From this simple exercise, we learned that initially a core group of large and highly cited journals needed to be covered in the new Science Citation Index (SCI). Consider that, in 2004, the Journal of Biological Chemistry published 6500 articles, whereas articles from the Proceedings of the National Academy of Sciences were cited more than 300 000 times that year. Smaller journals might not be selected if we rely solely on publication count, so we created the journal impact factor (JIF). The TABLE provides a selective list of journals ranked by impact factor for 2004. The Table also includes the total number of articles published in 2004, the total number of articles published in 2002 plus 2003 (the JIF denominator), the citations to everything published in 2002 plus 2003 (the JIF numerator), and the total citations in 2004 for all articles ever published in a given journal. Sorting by impact factor allows for the inclusion of many small (in terms of total number of articles published) but influential journals. Obviously, sorting by total citations or other provided data would result in a different ranking. The term “impact factor” has gradually evolved to describe both journal and author impact. Journal impact factors generally involve relatively large populations of articles and citations. Individual authors generally produce smaller numbers of articles, although some have published a phenomenal number. For example, transplant surgeon Tom Starzl has coauthored more than 2000 articles, while Carl Djerassi, inventor of the modern oral contraceptive, has published more than 1300. Even before the Journal Citation Reports (JCR) appeared, we sampled the 1969 SCI to create the first published ranking by impact factor. Today, the JCR includes every journal citation in more than 5000 journals—about 15 million citations from 1 million source items per year. The precision of impact factors is questionable, but reporting to 3 decimal places reduces the number of journals with the identical impact rank. However, it matters very little whether, for example, the impact of JAMA is quoted as 24.8 rather than 24.831. A journal’s impact factor is based on 2 elements: the numerator, which is the number of citations in the current year to items published in the previous 2 years, and the denominator, which is the number of substantive articles and reviews published in the same 2 years. The impact factor could just as easily be based on the previous year’s articles alone, which would give even greater weight to rapidly changing fields. An impact factor could also take into account longer periods of citations and sources, but then the measure would be less current.
Oogenesis in the suppressor of hairy-wing mutant of Drosophila melanogaster. I. Phenotypic characterization and transplantation experiments.

Cytological studies of ovaries from Drosophila melanogaster homozygous for the female sterile gene, su2-Hw, demonstrate that the nurse cell components of the egg chambers are primarily affected. The chromosomes of these endopolyploid cells remain condensed, whereas the normal polytene chromosomes of wild type nurse cells uncoil and fall apart prior to vitellogenesis. Vitellogenesis is greatly inhibited in the mutant, and the egg chambers eventually degenerate. Reciprocal transplantation experiments show autonomous behavior of + and su2-Hw ovaries. Therefore the ovarian phenotype is due to the action of the mutant gene in the ovarian cells themselves.
Circulating Leukocyte-Derived Microparticles Predict Subclinical Atherosclerosis Burden in Asymptomatic Subjects

Objective—To clarify circulating microparticles (MP) relationships with preclinical atherosclerosis. Methods and Results—In 216 subjects without cardiovascular disease, we assessed: (1) annexin V-positive, platelet-derived, endothelium-derived and leukocyte-derived circulating MP by capture on annexin V, anti-GPIb, anti-CD105, and anti-CD11a antibody-coated wells, respectively; (2) Framingham risk, metabolic syndrome, and low-grade inflammation by risk factors measurement including hsCRP; and (3) subclinical atherosclerosis by ultrasound examination of carotid, abdominal aorta, and femoral arteries. Number of sites with plaque ranged from 0 to 3 and plaque burden was classified into 0 to 1 or 2 to 3 sites disease. Leukocyte-derived MP level was higher in the presence than in the absence of moderate to high Framingham risk (P<0.05), metabolic syndrome (P<0.01), high C-reactive protein (CRP) (P<0.05), or 2- to 3-sites disease (P<0.01), and correlated positively with number of metabolic syndrome components (P<0.001), tertiles of fibrinogen (P<0.001), and number of diseased sites (P<0.01). In multivariate analysis, 2- to 3-sites disease was independently associated with leukocyte-derived MP level (P<0.05), Framingham risk (P<0.001), and metabolic syndrome (P<0.01). None of the other MP types correlated with risk markers or atherosclerosis. Conclusions—Leukocyte-derived MP, identified by affinity for CD11a, are increased in subjects with ultrasound evidence of subclinical atherosclerosis, unveiling new directions for atherosclerosis research.
[The Fifth World Symposium on Pulmonary Hypertension].

u he 4th World Symposium on Pulmonary Hypertension PH) took place in Dana Point, California, in February 008. This 4-day summit of international experts in PH, hich highlighted the findings of 11 scientific working roups, was an occasion for looking backward and for ooking ahead. Thirty years ago, adults diagnosed with ulmonary arterial hypertension (PAH) could expect to live ess than 3 years, and the therapeutic armamentarium was imited to nonselective vasodilators. By 2003, however, hen the 3rd World Symposium was held in Venice, Italy, uch more was known about the pathologic changes seen in AH and PH, and several important therapies had been hown to be effective. Today, our selection of therapeutic odalities is broader still, and more than 15 large randomzed clinical trials have provided reliable evidence for their enefit. The purpose of the 4th World Symposium was to eview the progress we have made in diagnosing and reating PH and PAH; redefine and, when appropriate, eclassify the disease itself; better understand the rationale or ongoing research; and formulate proposals for new nvestigative paths that may translate into a brighter future or our patients. The Dana Point meeting opened with an update on the atural history of PH. We learned that the vascular remodling characteristic of PH may have its origins in disruptions r alterations that take place in lung circulation as early as mbryonic and fetal development and certainly plays a role n pediatric lung disease. These early alterations in develpmental physiology may determine the likelihood of deeloping PH in adult life. We now understand that inflamatory processes also contribute to PH, particularly in onnective tissue diseases and chronic obstructive pulmoary disease, and inflammation is involved in all of the echanisms of vascular remodeling.
Societal Influences on Body Image Dissatisfaction in Younger and Older Women

ABSTRACT Few studies have examined older women's body image. This study compared body image dissatisfaction (BID) and weight control practices; evaluated associations among BID, societal influences and concern for appropriateness (CFA); and identified the most important correlate of BID among younger (19–23) and older women (65–74). Questionnaires obtained information on demographics, weight control practices, societal influences (SATAQ-3), CFA and BID using the Figure Rating Scale. Findings revealed no difference in the prevalence of BID. The number of weight control practices and SATAQ-3 and CFA scores were correlated to BID. Pressure from the media was the most significant correlate of BID.
Tailoring the Response Time of Shape Memory Alloy Wires through Active Cooling and Pre-stress

Application of shape memory alloy (SMA) actuators is limited to low frequencies due to slow cooling time especially in the embedded conditions where heat transfer rate is the controlling factor. In this study, we investigate various active cooling techniques and effect of pre-stress to improve the response time of two commercially available SMAs: Flexinol from Dynalloy Inc. and Biometal fiber from Toki Corporation. Flexinol and Biometal fiber of equal length and diameter were found to exhibit different actuation behavior under pre-stress. Time domain force response of SMA actuators was found to be dependent upon the applied pre-stress, heating rate, and amplitude of applied electrical stimulus. Compared to Biometal fibers, time domain response of Flexinol was found to decrease significantly with increasing pre-stress indicating the difference in transformation behavior. Fluid flow and heat sinking were found to be suitable methods for improving the response time by reducing the cooling cycle from 1.6 s to 0.30—0.45 s. This is a significant improvement in the actuation capability of SMAs.
Association of 1936A > G in AKAP10 (A-kinase anchoring protein 10) and blood pressure in Polish full-term newborns

Abstract Objective. The 1936G AKAP10 allele is associated with increased adult basal heart rate (HR) and decreased variability, markers of low cholinergic/vagus sensitivity associated with hypertension. Blood pressure (BP) values in newborns are important measurable markers of cardiovascular risk later in life. The question was whether decreased vagal function-related 1936A > G AKAP10 is associated with newborn BP. Study design. 114 healthy Polish newborns born after 37th gestational week to healthy women with uncomplicated pregnancies. At birth, newborn cord blood obtained for isolation of genomic DNA. BP and HR measured on days 1 and 3 after delivery. Results. Diastolic BP on day 3 and absolute and relative differences between diastolic BP values, as well as between mean BP values on day 3 and on day 1 after birth, in carriers of 1936G AKAP10 allele, were significantly higher as compared with wild-type homozygotes. Conclusion. Results demonstrate possible association between 1936G AKAP10 variant and BP in Polish newborns.
Undiagnosed depression: An epidemiologic study in three European countries

Resumen Introduccion La depresion representa el trastorno mental mas prevalente, con una alta carga social. No obstante, existe una alta proporcion de personas que no reciben tratamiento, ni siquiera estan formalmente diagnosticadas por los sistemas de salud, a pesar de presentar episodios depresivos. El objetivo de este estudio es la exploracion de la depresion no diagnosticada, su prevalencia y factores asociados. Metodos El estudio Colaborativo de Envejecimiento en Europa (COURAGE en Europa) fue una encuesta transversal, realizada en tres paises europeos: Espana, Finlandia y Polonia. La muestra total se dividio en dos submuestras; la primera submuestra incluia a los sujetos con depresion, ya sean oficialmente diagnosticados por el sistema de salud o identificados por la Entrevista Internacional Diagnostica Compuesta (CIDI) desarrollada por la Organizacion Mundial de la Salud; la segunda submuestra representaba la poblacion formalmente sin depresion, incluyendo aquellos que no sufrian depresion segun los servicios de salud. La depresion no diagnosticada fue estudiada en ambas submuestras como variable dependiente en los modelos de regresion logistica. Las variables independientes incluyeron variables sociodemograficas, economicas, financiacion privada de salud y utilizacion de los servicios de asistencia sanitaria, los comportamientos propios de un estilo de vida saludable, las condiciones clinicas, y variables de bienestar, discapacidad y soledad. Resultados Para la poblacion sin depresion formal, tener entre 18 y 49 anos, ser viudo y tener un nivel educativo inferior estaba relacionado con la presencia de un mayor numero de episodios depresivos no diagnosticados. Los otros factores asociados incluian problemas financieros, mayor frecuencia de visitas de atencion ambulatoria, mayor nivel de discapacidad, soledad mas acuciante, y bajos niveles de bienestar. Para la poblacion con depresion, no estar diagnosticado estuvo asociado con el hecho de ser varon, viudo y empleado, en comparacion con jubilados y desempleados. Otros factores asociados en esta poblacion incluian tener un estilo de vida sedentario y un nivel bajo de discapacidad. Los resultados de cada pais fueron reportados por separado en ambos grupos. Conclusiones La presencia de episodios depresivos no diagnosticados en la submuestra que fue formalmente considerada como sin depresion, estuvo asociada con factores que habian sido estudiados de forma exhaustiva en la literatura, comprendiendo el nivel de educacion, la carga financiera, la discapacidad, el bienestar y la soledad. Sin embargo, las asociaciones variaban al estudiar al grupo con depresion, mostrando diferentes barreras al proceso de buscar ayuda en la asistencia sanitaria, e incluyendo factores de resiliencia tales como los niveles bajos de discapacidad.
Essential oils as "a cry for help"

Dieser Bericht ist ein Update einer kurzlich veroffentlichten Arbeit. Es wird immer wieder Bezug auf diese Arbeit genommen und die neuesten Erkenntnisse uber indirekte Abwehrmechanismen der Pflanzen werden hinzugefugt. Herbivor-induzierte Pflanzenduftstoffe (HIPVs) und ihre Wirkungen auf die dritte trophische Ebene, welche Rauber und Parasitoide umfasst, werden in diesem Bericht behandelt. Die Tatsache, dass Pflanzen keine passiven Individuen sind, wird anhand mehrerer Studien bestatigt. Pflanzen konnen Signale in ihrer Umwelt wahrnehmen und auf diese mittels ihrer morphologischen, physiologischen und verhaltensbezogenen Plastizitat reagieren. Plastizitat erlaubt es Pflanzen ihre Abwehrkrafte auf momentane und bevorstehende Gefahren, die von Herbivoren ausgehen, anzupassen. Der „Hilfeschrei“ der Pflanzen wird auch aus der Sicht der carnivoren Insekten betrachtet, welche entscheidende Informationen durch die komplexen fluchtigen Mischungen erhalten. Auserdem werden die wichtigsten Methoden prasentiert, mit denen man das Verhalten der Carnivoren auf HIPVs nicht nur im Labor, sondern auch im Freiland untersuchen kann. Manipulationen der Pflanzen durch Ausschaltung oder ubermasige Expression von Genen konnen dabei helfen, Mechanismen der indirekten Abwehr zu verstehen. Verschiedene Beispiele der indirekten Pflanzenabwehr zeigen, dass HIPVs in der biologischen Schadlingsbekampfung eingesetzt werden konnten. Dadurch kann moglicherweise der Einsatz von synthetischen Pestiziden, welche die Umwelt stark belasten, in Zukunft reduziert werden.
Identification and structural analysis of type I collagen sites in complex with fibronectin fragments

Collagen and fibronectin are major components of vertebrate extracellular matrices. Their association and distribution control the development and properties of diverse tissues, but thus far no structural information has been available for the complex formed. Here, we report binding of a peptide, derived from the α1 chain of type I collagen, to the gelatin-binding domain of human fibronectin and present the crystal structure of this peptide in complex with the 8–9FnI domain pair. Both gelatin-binding domain subfragments, 6FnI1–2FnII7FnI and 8–9FnI, bind the same specific sequence on D-period 4 of collagen I α1, adjacent to the MMP-1 cleavage site. 8–9FnI also binds the equivalent sequence of the α2 chain. The collagen peptide adopts an antiparallel β-strand conformation, similar to structures of proteins from pathogenic bacteria bound to FnI domains. Analysis of the type I collagen sequence suggests multiple putative fibronectin-binding sites compatible with our structural model. We demonstrate, by kinetic unfolding experiments, that the triple-helical collagen state is destabilized by 8–9FnI. This finding suggests a role for fibronectin in collagen proteolysis and tissue remodeling.