Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.

Background: Genetic diagnosis of inborn errors of immunity (IEI) is complex due to the large number of genes involved and their molecular features. Missense variants have been reported as the most common cause of IEI. However, the frequency of copy number variants (CNVs) may be underestimated since their detection requires specific quantitative techniques.

Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia.

Familial hypobetalipoproteinaemia is a disorder of lipid metabolism characterized by low levels of total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B. ApoB-related familial hypolipoproteinemia is an autosomal condition with a codominance inheritance pattern. Non-classical congenital adrenal hyperplasia is an autosomal recessive disorder due to mutations in the CYP21A2, a gene encoding for the enzyme 21-hydroxylase, which results in an androgen excess production from adrenal source.

Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells.

Background: The diagnosis of cystic fibrosis (CF) is established when characteristic clinical signs are coupled with biallelic CFTR pathogenic variants. No previously reported non-canonical splice site variants have to be considered as variants of uncertain significance unless their effect on splicing has been validated.

Methods: Two variants identified by next-generation sequencing were evaluated.

MiR-151a: a robust endogenous control for normalizing small extracellular vesicle cargo in human cancer.

Small extracellular vesicles (sEVs) in the blood of cancer patients contain higher amounts of tumor markers than those identified as free-circulating. miRNAs have significant biomedical relevance due to their high stability and feasible detection. However, there is no reliable endogenous control available to measure sEVs-miRNA content, impairing the acquisition of standardized consistent measurements in cancer liquid biopsy.

Identification and Functional Analysis of Variants in a Cohort of Hypercholesterolemic Patients.

Mutations in are the second most frequent cause of familial hypercholesterolemia (FH). is highly polymorphic, and many variants are benign or of uncertain significance, so functional analysis is necessary to ascertain their pathogenicity. Our aim was to identify and characterize variants in patients with hypercholesterolemia.

[Analysis of cardiovascular risk factors in the stroke code. An approach in advanced ages.].

Objective: The purpose of this study was to analyze the effect of cardiovascular risk factors (CVRF) in 153 patients who had suffered a stroke in the province of Ourense and where the stroke code had been activated.Its realization is part of the purpose of the authors to influence chronic pathology to prevent this specific event.

Methods: A longitudinal, retrospective and observational study was applied to 153 patients with a mean age of 76±12 years who had presented some type of stroke.

Impact of COVID-19 on University Students: An Analysis of Its Influence on Psychological and Academic Factors.

The irruption of COVID-19 has had different consequences on mental health in the youth population. Specifically, the sector made up of university students has suffered an abrupt change of teaching modality because of the pandemic. As such, this paper aims to analyze the impact that COVID-19 has had on different personal factors of students: (i) satisfaction with life; (ii) lived uncertainty; (iii) depression, anxiety, and stress, as well as factors related to academic development; (iv) motivation and the creation of teaching and learning strategies during this period; and (v) the perception of the degree of adaptability to the new scenario brought about by the university system.

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.

Pathogenic variants in the AP4B1 gene lead to a rare form of hereditary spastic paraplegia (HSP) known as SPG47. We report on a patient with a clinical suspicion of complicated HSP of the lower limbs with intellectual disability, as well as a novel homozygous noncanonical splice site variant in the AP4B1 gene, in which the effect on splicing was validated by RNA analysis. We sequenced 152 genes associated with HSP using Next-Generation Sequencing (NGS).

Novel SLC12A2-ROS1 Fusion in Non-Small Cell Lung Cancer with a Significant Response to Crizotinib: The Importance of Choosing the Appropriate Next-Generation Sequencing Assay.

Identifying the druggable target is crucial for patients with nonsquamous advanced non-small cell lung cancer (NSCLC). This article adds to the spectrum of ROS1 fusion cases described in NSCLC. We describe a novel SLC12A2-ROS1 rearrangement that has not been previously reported in other cancers: a fusion that has clinical and radiological sensitivity to crizotinib.

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.

Stuve-Wiedemann syndrome (SWS; MIM 601559) is a rare autosomal recessive disease caused by mutations in the leukemia inhibitor factor receptor gene (LIFR). Common clinical and radiological findings are often observed, and high neonatal mortality occurs due to respiratory distress and hyperthermic episodes. Despite initially considered as a lethal disorder during the newborn period, in recent years, several SWS childhood survivors have been reported.

Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR).

Background And Aims: Familial hypercholesterolemia is most frequently caused by genetic variants in the LDLR gene. Most of LDLR pathogenic variants are missense, followed by splicing and deletion/insertions variants. Mosaicism is a genetic condition in which an individual shows more than one clone of cells with different genotypes.

Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia: A case report.

Rationale: Proprotein convertase subtilisin/kexin 9 or PCSK9 is a protein whose main function is to regulate the number of low-density lipoprotein receptors (LDLR) present on the cell surface. Loss-of-function mutations in PCSK9 have been related to low LDL-cholesterol levels and a decrease in the risk of cardiovascular events.

Patient Concerns: We present the case of a 27-year-old woman, offspring of a patient with familial homozygous hypercholesterolemia, who presented with mild-moderate hypercholesterolemia.

Self and hetero-perception and discrimination in Attention Deficit Hyperactivity Disorder.

This study intends to show the external perception that Primary Education students have of their schoolmates with Attention Deficit Hyperactivity Disorder (ADHD) and the perception of the student who has being diagnosed with ADHD himself/herself in order to analyse the differences between both perceptions. For that purpose, a questionnaire was e elaborated ad hoc, and the main results shown point to the fact that the external perception of the Primary Education student is more positive than the perception of the diagnosed student. Moreveover, the perception of the schoolmates of students diagnosed with ADHD tends to worsen in superior courses.

Effect of the Flipped Classroom and Gamification Methods in the Development of a Didactic Unit on Healthy Habits and Diet in Primary Education.

Currently, there are several methodological models that have broken into different disciplines of knowledge with the aim of making the teaching/learning process more dynamic, active and participatory for students. This is the case of Flipped Classroom, which is based on a mixed approach between e-learning and face-to-face teaching, as well as gamification, which bases its didactic principles on the recreational components of the games. Within this context, the aim of this research is to observe what effect the application of Flipped Classroom and gamification has in the development of motivation, autonomy and self-regulation towards learning through a didactic unit on healthy habits and diet in 202 students of 6th grade of Primary School from four different schools (public and state-subsidized) in the city of Granada (Spain).

Impact of Problematic Smartphone Use and Instagram Use Intensity on Self-Esteem with University Students from Physical Education.

Mobile devices are a revolutionary element that offer many possibilities, although they can also cause problems for users. This is the case with the development of addictive behaviors that can affect personal well-being. The purpose of this paper has been to analyze the influence of smartphone addiction and Instagram use intensity on the self-esteem of Physical Education students.

Use of Instagram by Pre-Service Teacher Education: Smartphone Habits and Dependency Factors.

It is increasingly common to upload photographs on the Internet of sports practices carried out. However, this behavior can be related to smartphone addiction, which has become a global problem. In turn, the intensive use of the Instagram social network has begun to be linked to addictive behaviors on mobile devices.

Internet Addiction in the Web of Science Database: A Review of the Literature with Scientific Mapping.

Information and communication technologies (ICT) is a major element of today's society with great potential that can offer both advantages and disadvantages. Addiction to the Internet and social networks is a growing problem in all age groups. Education is the context in which to work and train in the correct use of these media.

Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.

Familial hypercholesterolemia is an autosomal dominant disease of lipid metabolism caused by defects in the genes LDLR, APOB, and PCSK9. The prevalence of heterozygous familial hypercholesterolemia (HeFH) is estimated between 1/200 and 1/250. Early detection of patients with FH allows initiation of treatment, thus reducing the risk of coronary heart disease.

A new variant in is associated with glycogen storage disease type IXa.

Glucogenosis type IX is caused by pathogenic variants of the gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. , , , and genes were analyzed by Next Generation Sequencing (NGS).