EPITHELIAL PLASTICITY IN HEALTH AND DISEASE
Epithelial homeostasis is crucial to maintain tissue architecture and it needs to be tightly regulated in the adult. By contrast, embryonic cells show a high degree of epithelial plasticity required for proper morphogenesis and, in particular, for the implementation of massive cell movements that occur during gastrulation, neural crest delamination, etc. Nieto group was interested in the analysis of cell movements, plasticity, and epithelial to mesenchymal transitions (EMTs), and found that the reactivation of developmental EMT-like programs in adult cells leads to several pathologies (e.g., tumor progression, organ degeneration).17 While the epithelial and mesenchymal cells are considered as extreme phenotypes, intermediate EMT states exist. Under the circumstances, cells depict a hybrid phenotype expressing epithelial and mesenchymal markers, and from which they reverse to the original state or move to a more mesenchymal phenotype. Hybrid transitory states favor coordinated cell migration or wound healing, but they enable the formation of clusters of migratory cancer (circulating tumor) cells (CTCs) with increased metastatic potential. However, in contrast to cancer, the intermediate phenotype holds promise for antifibrotic therapeutic approaches, as inhibiting EMT attenuates established fibrosis. They discussed different scenarios in which the intermediate phenotype is observed in development and disease, and referred to a developmental EMT that they found to be crucial for heart laterality and morphogenesis in vertebrates.
DAY CLINICAL GENETICS AND RARE DISEASES FOR PRIMARY CARE
Navarro et al. organized Day on Clinical Genetics and Rare Diseases for Primary Care. 18
Soria Olivas proposed H on artificial intelligence (AI) opportunities in research in PC.19
H1. (Agrawal et al., 2018). Prediction Machines: The Simple Economics of AI.20
H2. Problems: classification, prediction, clustering, selection of characteristics, detection of outliers.
H3. Algorithm for reinforcement learning.
H4. Generative Adversarial Networks (GAN), 2014.
H5. Google Duplex: An AI system for accomplishing real-world tasks over the phone.
H6. (Topol, 2019). High-performance medicine: The convergence of hitman and AI.21
H7. (Xia, 2019). Evaluation and accurate diagnoses of pediatric diseases using AI.22
ROUND TABLE 1: SOVAMFIC WORKING GROUP
Cuenca Valero proposed questions and H on what a family doctor should know of genetics.23
Ql. What should a family doctor know of genetics?
HI. Change of paradigm. Before: first to get pregnant; now: first genetic analysis.
Q2. How far to go?
H2. Limitation: To know how far to go.
She provided the following conclusion (C).
Cl. We propose a rotation of 1 month for the internal resident physician in family medicine.
Ejarque Domenech proposed hypotheses/Q on Guide of Preconception Advice from PC.24
H3. (Ejarque Domenech, 2018). Guide of Preconception Advice from PC.25
H4. (Ejarque et al., 2007). Family physicians and responsibilities in CG.26 Q3. How is the process of genetic advice earned out?
Domenech Casasus raised a question on web pages of CG for the family physician.27 Q4. Need help?
ROUND TABLE 2: RESEARCH IN PC
Fernandez-Nohales proposed questions and answer on the management of health research.28
Q1. What are institutes for health research?
Q2. How can one research?
A2. Promotion: outside (clinical assays, health services, collaborations); inside (research projects).
Dasi proposed questions/A/H on PC research and a-1 antitrypsin (AAT) deficiency.29 Q3. Can one research in PC of health?
A3. Yes, one can research in PC of health, for example, AAT deficiency. Q4. Why to research in PC of health?
HI. (REDIAPP, 2012). Report 2007-2012,30
H2. RARE x RARE = RARE.2
Q5. Who do I ask?
H3. (Lara, 2017). ATT: Patients 'PC-diagnosed with chronic obstructive pulmonary disease,31
ROUND TABLE 3: RDs IN HOSPITAL
Dasl proposed the following questions, answer, and hypothesis on what
RDs are.32
Q1. However, what are RDs?
HI. I have been diagnosed with an unprofitable disease, I have no salvation.
Q2. RDs: More common than you think?
A2. US: fewer than 200,000; EU: fewer than 1:2000, for example, Einstein (Asperger syndrome).
H2. Problems: infradiagnosis and phenotypic variability.
Q3. Why to research in RDs is so difficult?
A3. Patients are rare.
H3. However, RDs have contributed to metabolic discoveries, for example, drug statin.
Q4. In addition, what to say about phenotypic variability?
A4. For example, CF transmembrane conductance regulator (CFTR) gene.
He provided the following conclusion (C).
С1. The weird is important.
C2. Research in the most RDs has the capacity of benefiting all people.
C3. Together, people are stronger.
C4. Patients-physicians-researchers-science journalists.
Sancho proposed the following hypotheses on amyotrophic lateral sclerosis (ALS).33
H4. Case: Stephen Hawking.
H5. (Ministiy of Health and Consumption, 2007). Guide for ALS in Spain.34
H6. (Sancho, 2010). Noninvasive respiratory muscle aids ALS percutaneous endoscopic gastrostomy,35
H7. (Sancho, 2019). Gina Manejo Problemas Respiratorios de Escle- rosis Lateral Amiotrofica.36
Trenor proposed the following hypotheses and questions on SLE.37
H8. (Kelly, 2009). Getting susceptibility to SLE: Fine mapping and genome-wide association,38
Q5. (Boumpas, 2013). Diagnostic criteria for SLE: Has the time come?
H9. (Bertsias et al., 2013). Diagnostic criteria for SLE.39
H10. (Mankad and Gabriel, 2014). Rheumatoid arthritis (RA): Treating CVD risk in RA.40
Q6. (Deane and El-Gabalawy, 2014). At what site does autoimmunity occur?
Hll. (Deane and El-Gabalawy, 2014). Pathogenesis and prevention of rheumatic diseased1
H12. (Muskardin and Niewold, 2018). Type-I interferon in rheumatic diseases.42
H13. (Eyre et al., 2017). The genetics revolution in rheumatology,43
Q7. (Pisetsky, 2017). Antinuclear antibody testing: Misunderstood or misbegotten?
H14. (Pisetsky, 2017). Antinuclear antibody testing.44
H15. (Schneider and Liang, 2015). Connective tissue diseases: SLE classification.45
HI6. (Jorge et al., 2018). Hydroxychloroquine retinopathy.46
She provided the following conclusion (C).
C5. SLE aetiology is multifactorial and includes: environment, stochastic factors, genetic issues.
