Surgical correction of talus foot in patients with cerebral palsy

Surgical correction of talus foot in patients with cerebral pals

Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell-Free Fetal DNA: Noninvasive Prenatal Diagnosis

During pregnancy, a percentage of the cell-free DNA circulating in the maternal blood is represented by the cell-free fetal DNA (cffDNA), constituting an accessible source for noninvasive prenatal genetic screening. The coexistence of the maternal DNA, the dominant fraction of cell-free DNA, together with the cffDNA component and the scarcity of the cffDNA itself make applying traditional methods of genetics and molecular biology impossible. Next-generation sequencing methods are widely used to study fetal aneuploidies. However, in monogenic disorders, there have been relatively few studies that analyzed single mutations. We present a method for the analysis of an extended group of gene variants associated with recessive and dominant autosomal disorders using next-generation sequencing. The proposed test should allow a complete analysis of common genetic disorders and pathogen-associated variants for diagnostic use. The analysis of cffDNA for single gene disorders may replace invasive prenatal diagnosis methods, associated with the risk of spontaneous abortion and psychological stress for patients. The proposed test should assess reproductive risk for both genetic family disorders and de novo occurrences of the disease. The application of this method to a case of beta-thalassemia is also discussed

Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

We describe the use of a polymerase chain reaction in conjunction with a DNA enzyme immunoassay for the simultaneous detection of five common cystic fibrosis mutations. The method is specific, sensitive, rapid, and proved effective in Guthrie card-based screening of cystic fibrosis mutations

Detecting SARS-CoV-2 RNA in fecal specimens: The practical challenges

10.1002/jmv.27071JOURNAL OF MEDICAL VIROLOGY9395241-524

Tailored Flux Pinning in Superconductor-Ferromagnet Multilayers with Engineered Magnetic Domain Morphology From Stripes to Skyrmions

International audienc

Proteomic analysis for the study of amniotic fluid protein composition.

Abstract Amniotic fluid (AF), routinely used for prenatal diagnosis, contains large amounts of proteins produced by the amnion epithelial cells, fetal tissues, fetal excretions and placental tissuesAlthough many amniotic fluid proteins have been identified and are currently used to detect potential fetal anomalies, little is known about the functions of these proteins and how they interact with one another. Identification of changes in the protein content of amniotic fluid, therefore, may be used to detect a particular type of pathology, or to ascertain a specific genetic disorder. In the present work we used a proteomic approach, combining 2DE and MS, in order to study the protein composition of AFS

Long-range superconducting proximity effect in YBa2Cu3O7/La0.7Ca0.3MnO3 weak-link arrays

The interplay between ferromagnetism and superconductivity has attracted substantial interest due to its potential for exotic quantum phenomena and advanced electronic devices. Although ferromagnetism and superconductivity are antagonistic phenomena, ferromagnets (F) can host spin-triplet superconductivity induced via proximity with superconductors (S). To date, most of the experimental effort has been focused on single S/F/S junctions. Here, we have found the fingerprints of long-range superconducting proximity effect in micrometric weaklink arrays, formed by embedding YBa2Cu3O7 superconducting islands in a half-metallic ferromagnet La0.7Ca0.3MnO3 film. These arrays show magnetoresistance oscillations that appear at temperatures below the critical temperature of YBa2Cu3O7 for currents below a threshold, indicating their superconducting origin. This realization paves the way for device architectures displaying macroscopic quantum interference effects, which are of interest for field sensing applications, among others.Agencia Estatal de Investigación (España)Ministerio de Ciencia e Innovación (España)Comunidad de MadridHelmholtz Zentrum BerlinEuropean CommissionAgence Nationale de la Recherche (France)Depto. de Física de MaterialesFac. de Ciencias FísicasTRUEpubPagado por el auto

Disentangling photodoping, photoconductivity, and photosuperconductivity in the cuprates

The normal-state conductivity and superconducting critical temperature of oxygen-deficient YBa2Cu3O7-delta can be persistently enhanced by illumination. Strongly debated for years, the origin of those effects-termed persistent photoconductivity and photosuperconductivity (PPS)-has remained an unsolved critical problem, whose comprehension may provide key insights to harness the origin of hightemperature superconductivity itself. Here, we make essential steps toward understanding PPS. While the models proposed so far assume that it is caused by a carrier-density increase (photodoping) observed concomitantly, our experiments contradict such conventional belief: we demonstrate that it is instead linked to a photo-induced decrease of the electronic scattering rate. Furthermore, we find that the latter effect and photodoping are completely disconnected and originate from different microscopic mechanisms, since they present different wavelength and oxygen-content dependences as well as strikingly different relaxation dynamics. Besides helping disentangle photodoping, persistent photoconductivity, and PPS, our results provide new evidence for the intimate relation between critical temperature and scattering rate, a key ingredient in modern theories on high-temperature superconductivity.European Research CouncilEuropean CommissionAgence Natonale de la Recherche (France)Comunidad de MadridAgencia Estatal de Investigación (España)Ministerio de Ciencia e Innovación (España)Depto. de Física de MaterialesFac. de Ciencias FísicasTRUEpu