Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain.

Introduction: Genetic myopathies constitute a collection of rare diseases that significantly impact patient functionality and quality of life. Early diagnosis of genetic myopathies can prevent future complications and provide families with genetic counselling. Despite the substantial impact of genetic myopathies on the adult population, the global epidemiology of these disorders is inadequately addressed in the literature.

Detection and distribution of two dominant alleles associated with the sweet kernel phenotype in almond cultivated germplasm.

Almond [ Miller (D. A. Webb), syn.

Patterns of Differentially Expressed circRNAs in Human Thymocytes.

Circular RNAs (circRNAs) are suggested to play a discriminative role between some stages of thymocyte differentiation. However, differential aspects of the stage of mature single-positive thymocytes remain to be explored. The purpose of this study is to investigate the differential expression pattern of circRNAs in three different development stages of human thymocytes, including mature single-positive cells, and perform predictions in silico regarding the ability of specific circRNAs when controlling the expression of genes involved in thymocyte differentiation.

Differential molecular response in mice and human thymocytes exposed to a combined-dose radiation regime.

In the quest for more effective radiation treatment options that can improve both cell killing and healthy tissue recovery, combined radiation therapies are lately in the spotlight. The molecular response to a combined radiation regime where exposure to an initial low dose (priming dose) of ionizing radiation is administered prior to a subsequent higher radiation dose (challenging dose) after a given latency period have not been thoroughly explored. In this study we report on the differential response to either a combined radiation regime or a single challenging dose both in mouse in vivo and in human ex vivo thymocytes.

Advancing Endodormancy Release in Temperate Fruit Trees Using Agrochemical Treatments.

Endodormancy in temperate fruit trees like is a protector state that allows the trees to survive in the adverse conditions of autumn and winter. During this process, plants accumulate chill hours. Flower buds require a certain number of chill hours to release from endodormancy, known as chilling requirements.

Almond diversity and homozygosity define structure, kinship, inbreeding, and linkage disequilibrium in cultivated germplasm, and reveal genomic associations with nut and seed weight.

Almond [Prunus dulcis Miller (D.A. Webb)] is the main tree nut species worldwide.

Ascorbic acid and prunasin, two candidate biomarkers for endodormancy release in almond flower buds identified by a nontargeted metabolomic study.

Temperate fruit trees belonging to Prunus species have the ability to suspend (induce dormancy) and resume growth periodically in response to environmental and seasonal conditions. Endodormancy release requires the long-term accumulation of chill. Upon accumulation of cultivar-specific chill requirements, plants enter the state of ecodormancy, which means the ability to grow has been restored, depending on the fulfilment of heat requirements.

Identification of early and late flowering time candidate genes in endodormant and ecodormant almond flower buds.

Flower bud dormancy in temperate fruit tree species, such as almond [Prunus dulcis (Mill.) D.A.

[Drug exposure associated with exacerbation of symptoms in patients with myasthenia gravis].

Introduction: Numerous drugs have been related to exacerbation of myasthenia gravis. So far there are no studies examining the extent of use of drugs related to exacerbation of myasthenia gravis.

Aims: We sought to assess the extent of use of drugs related to exacerbations and the annual incidence rate of exacerbations in a cohort of myasthenia gravis patients.

[Neurological changes and outcomes of paediatric surgery of the aortic arch using selective cerebral perfusion].

Introduction: The aims of this article are to analyse the neuropsychological changes in the medium-term in children subjected to aortic arch surgery using selective cerebral perfusion (SCP), as well as to detect any modifiable factors in the surgical technique that may contribute to minimising the subsequent neurological involvement.

Material And Methods: Inclusion criteria were established as: aortic arch disease operated on using SCP during the first year of life, between 10 August 2004 and 24 May 2016, biventricular physiology, and gestational age greater than 31 weeks. In the absence of a chromosomal disease, they were classified, from a neurological point of view, using the Rankin score.

The use of PanDrugs to prioritize anticancer drug treatments in a case of T-ALL based on individual genomic data.

Background: Acute T-cell lymphoblastic leukaemia (T-ALL) is an aggressive disorder derived from immature thymocytes. The variability observed in clinical responses on this type of tumours to treatments, the high toxicity of current protocols and the poor prognosis of patients with relapse or refractory make it urgent to find less toxic and more effective therapies in the context of a personalized medicine of precision.

Methods: Whole exome sequencing and RNAseq were performed on DNA and RNA respectively, extracted of a bone marrow sample from a patient diagnosed with tumour primary T-ALL and double negative thymocytes from thymus control samples.

Mutation of a bHLH transcription factor allowed almond domestication.

Wild almond species accumulate the bitter and toxic cyanogenic diglucoside amygdalin. Almond domestication was enabled by the selection of genotypes harboring sweet kernels. We report the completion of the almond reference genome.

Elucidation of the Amygdalin Pathway Reveals the Metabolic Basis of Bitter and Sweet Almonds ().

Almond () is the principal species in which the consumed and thus commercially important part of the fruit is the kernel. As a result of continued selection, the vast majority of almonds have a nonbitter kernel. However, in the field, there are trees carrying bitter kernels, which are toxic to humans and, consequently, need to be removed.

Synteny-Based Development of CAPS Markers Linked to the Sweet kernel LOCUS, Controlling Amygdalin Accumulation in Almond (Prunus dulcis (Mill.) D.A.Webb).

The bitterness and toxicity of wild-type seeds of is due to the cyanogenic glucoside amygdalin. In cultivated almond ( (Mill.) D.

β-Glucosidase activity in almond seeds.

Almond bitterness is the most important trait for breeding programs since bitter-kernelled seedlings are usually discarded. Amygdalin and its precursor prunasin are hydrolyzed by specific enzymes called β-glucosidases. In order to better understand the genetic control of almond bitterness, some studies have shown differences in the location of prunasin hydrolases (PH, the β-glucosidase that degrades prunasin) in sweet and bitter genotypes.

Transcriptome and Metabolite Changes during Hydrogen Cyanamide-Induced Floral Bud Break in Sweet Cherry.

Release of bud dormancy in perennial woody plants is a temperature-dependent process and thus flowering in these species is heavily affected by climate change. The lack of cold winters in temperate growing regions often results in reduced flowering and low fruit yields. This is likely to decrease the availability of fruits and nuts of the spp.

Cyanogenic Glucosides and Derivatives in Almond and Sweet Cherry Flower Buds from Dormancy to Flowering.

Almond and sweet cherry are two economically important species of the genus. They both produce the cyanogenic glucosides prunasin and amygdalin. As part of a two-component defense system, prunasin and amygdalin release toxic hydrogen cyanide upon cell disruption.

Bottom-Up Elucidation of Glycosidic Bond Stereochemistry.

The lack of robust, high-throughput, and sensitive analytical strategies that can conclusively map the structure of glycans has significantly hampered progress in fundamental and applied aspects of glycoscience. Resolution of the anomeric α/β glycan linkage within oligosaccharides remains a particular challenge. Here, we show that "memory" of anomeric configuration is retained following gas-phase glycosidic bond fragmentation during tandem mass spectrometry (MS).

Chemical control of flowering time.

Flowering at the right time is of great importance; it secures seed production and therefore species survival and crop yield. In addition to the genetic network controlling flowering time, there are a number of much less studied metabolites and exogenously applied chemicals that may influence the transition to flowering as well as flower opening. Increased emphasis on research within this area has the potential to counteract the negative effects of global warming on flowering time, especially in perennial crop plants.

[Fingolimod: effectiveness and safety in routine clinical practice. An observational, retrospective, multi-centre study in the province of Alicante].

Introduction: Post-authorisation studies are important to confirm whether the outcomes of clinical trials are reproduced in usual clinical practice.

Aims: To evaluate the effectiveness and safety of fingolimod in clinical practice in the province of Alicante.

Patients And Methods: A retrospective multi-centre study was conducted with remitting multiple sclerosis patients treated with fingolimod.

Rescue Therapy Using Rituximab for Multiple Sclerosis.

Objectives: The aim of the study was to describe the effectiveness and safety data of rituximab in a group of patients with relapsing-remitting multiple sclerosis (MS) treated with rituximab due to failure of previous treatments or concomitant autoimmune diseases.

Methods: This is an observational study. Rituximab was considered in case of failure of the second-line therapy, failure of the first-line therapy and a contraindication to second-line therapies, or concomitant autoimmune disease.