mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis. Mutations in different genes in this pathway result in known rare diseases implicated in hemi/megalencephaly with epilepsy, as the tuberous sclerosis complex caused by mutations in TSC1 and TSC2, or the PIK3CA-related overgrowth spectrum (PROS). We here present 4 new cases of SKS, review all clinical and molecular aspects of this disorder, as well as some characteristics of the patients with only brain mTOR somatic mutations.

Increased Nicotiana tabacum fitness through positive regulation of carotenoid, gibberellin and chlorophyll pathways promoted by Daucus carota lycopene ß-cyclase (Dclcyb1) expression.

Carotenoids, chlorophylls and gibberellins are derived from the common precursor geranylgeranyl diphosphate (GGPP). One of the enzymes in carotenoid biosynthesis is lycopene ß-cyclase (LCYB) that catalyzes the conversion of lycopene into ß-carotene. In carrot, Dclcyb1 is essential for carotenoid synthesis in the whole plant. Here we show that when expressed in tobacco, increments in total carotenoids, ß-carotene and chlorophyll levels occur. Furthermore, photosynthetic efficiency is enhanced in transgenic lines. Interestingly, and contrary to previous observations where overexpression of a carotenogenic gene resulted in the inhibition of the synthesis of gibberellins, we found raised levels of active GA4 and the concommitant increases in plant height, leaf size and whole plant biomass, as well as an early flowering phenotype. Moreover, a significant increase in the expression of the key carotenogenic genes, Ntpsy1, Ntpsy2 and Ntlcyb, as well as those involved in the synthesis of chlorophyll (Ntchl), gibberellin (Ntga20ox, Ntcps and Ntks) and isoprenoid precursors (Ntdxs2 and Ntggpps) was observed. These results indicate that the expression of Dclcyb1 induces a positive feedback affecting the expression of isoprenoid gene precursors and genes involved in carotenoid, gibberellin and chlorophyll pathways leading to an enhancement in fitness measured as biomass, photosynthetic efficiency and carotenoid/chlorophyll composition.

Core Content for Undergraduate Medical Education in Spain: Recommendations of the Instructors' Group of the Spanish Academy of Dermatology and Venereology (AEDV).

BACKGROUND: Skin problems are among the most frequent reasons for seeking medical attention in primary care. In recent years, as a result of the process of adapting medical curricula to the requirements of the European Higher Education Area, the amount of time students spend learning the concepts of dermatology has been reduced in many universities. MATERIAL AND METHODS: In order to reach a consensus on core content for undergraduate education in dermatology, we sent a survey to the 57 members of the instructors' group of the Spanish Academy of Dermatology and Venereology (AEDV), asking their opinions on what objectives should be set for a dermatology course in Spain. A total of 131 previously selected objectives were listed. We then applied the Delphi method to achieve consensus on which ones the respondents considered important or very important (score≥4 on a Likert scale). RESULTS: Nineteen responses (33%) were received. On the second round of the Delphi process, 68 objectives achieved average scores of at least 4. The respondents emphasized that graduates should understand the structure and functions of the skin and know about bacterial, viral, and fungal skin infections, the most common sexually transmitted diseases (STDs), and the 4 main inflammatory dermatoses. Students should also learn about common complaints, such as itching and bald patches; the management of dermatologic emergencies; purpura and erythema nodosum as signs of internal disease; and the prevention of STDs and skin cancer. During clinical clerkships students should acquire the communication skills they will need to interview patients, write up a patient's medical history, and refer the patient to a specialist. CONCLUSIONS: The AEDV's group of instructors have defined their recommendations on the core content that medical faculties should adopt for the undergraduate subject of dermatology in Spain.

Design of a high-foot high-adiabat ICF capsule for the national ignition facility.

The National Ignition Campaign's [M. J. Edwards et al., Phys. Plasmas 20, 070501 (2013)] point design implosion has achieved DT neutron yields of 7.5×10(14) neutrons, inferred stagnation pressures of 103 Gbar, and inferred areal densities (ρR) of 0.90 g/cm2 (shot N111215), values that are lower than 1D expectations by factors of 10×, 3.3×, and 1.5×, respectively. In this Letter, we present the design basis for an inertial confinement fusion capsule using an alternate indirect-drive pulse shape that is less sensitive to issues that may be responsible for this lower than expected performance. This new implosion features a higher radiation temperature in the "foot" of the pulse, three-shock pulse shape resulting in an implosion that has less sensitivity to the predicted ionization state of carbon, modestly lower convergence ratio, and significantly lower ablation Rayleigh-Taylor instability growth than that of the NIC point design capsule. The trade-off with this new design is a higher fuel adiabat that limits both fuel compression and theoretical capsule yield. The purpose of designing this capsule is to recover a more ideal one-dimensional implosion that is in closer agreement to simulation predictions. Early experimental results support our assertions since as of this Letter, a high-foot implosion has obtained a record DT yield of 2.4×10(15) neutrons (within ∼70% of 1D simulation) with fuel ρR=0.84 g/cm2 and an estimated ∼1/3 of the yield coming from α-particle self-heating.

Molecular mechanisms of quinolone, macrolide, and tetracycline resistance among Campylobacter isolates from initial stages of broiler production.

The aim of this study was to investigate the resistance mechanisms of quinolones, macrolides and tetracycline in campylobacter isolates from grandparent and parent broiler breeders in Spain. Twenty-six isolates were investigated for quinolone resistance, three isolates for macrolide resistance and 39 for tetracycline resistance. All of the quinolone-resistant isolates possessed the mutation Thr86Ile in the quinolone resistance-determining region of gyrA and one isolate possessed the mutation Pro104Ser. Only one Campylobacter coli population (defined by restriction fragment length polymorphism-polymerase chain reaction of flaA and pulsed field gel electrophoresis) was resistant to erythromycin, and the mutation A2075G (23S rDNA) was responsible for macrolide resistance. The tetO gene was found in all of the tetracycline-resistant isolates. Twenty-two out of the 39 isolates investigated by Southern blot possessed chromosomic location of tetO and 17 were located on plasmids. Most of the plasmids with tetO were of around 60 kb and conjugation was demonstrated in a selection of them. In conclusion, we showed that Thr86Ile is highly prevalent in quinolone-resistant isolates as well as mutation A2075G in macrolide-resistant isolates of poultry origin. More variability was found for tetO. The possibility of horizontal transmission of tetO among campylobacter isolates is also an issue of concern in public health.

Effectiveness of 23-valent pneumococcal polysaccharide vaccine in adults aged 60 years and over in the Region of Madrid, Spain, 2008-2011.

Invasive pneumococcal disease (IPD) is a notifiable disease in the Region of Madrid. The 23-valent pneumococcal polysaccharide vaccine (PPV23) is recommended for children and adults aged two years or over with a high risk of disease, and for all adults aged 60 and over. We describe the evolution of IPD incidence from 2008 to 2011 in people aged 60 years and over and PPV23 vaccine effectiveness (VE). VE is estimated using both the screening method and indirect cohort method. The incidence of IPD varied from 20.0 in 2008 to 15.2 per 100,000 inhabitants in 2011 (RR: 0.8; 95% CI: 0.6­0.9). Adjusted VE estimated with the screening method was 68.2% (95% CI: 56.2­76.9). VE with the Broome method was 44.5% (95% CI: 23.8­59.6) for all PPV23 serotypes, and 64.4% (95% CI: 45.2­76.8) for PPV23 serotypes not included in conjugate vaccines. VE was lower in patients aged 80 years and older (25.5%; 95% CI:-23.2 to 55.0) and those with highrisk medical conditions (31.7%; 95% CI: -2.2 to -54.4). Adjusted VE was 44.5% (95% CI: 19.4-61.8) within 5 years of vaccination and 32.5% (95% CI: -5.6 to 56.9) after 5 years. These results are compatible with current recommendations for PPV23.

Obesity and psoriasis: inflammatory nature of obesity, relationship between psoriasis and obesity, and therapeutic implications.

Obesity, particularly abdominal obesity, is currently considered a chronic low-grade inflammatory condition that plays an active role in the development of the pathophysiologic phenomena responsible for metabolic syndrome and cardiovascular disease through the secretion of proinflammatory adipokines and cytokines. In recent years clear genetic, pathogenic, and epidemiologic links have been established between psoriasis and obesity, with important implications for health. The relationship between the 2 conditions is probably bidirectional, with obesity predisposing to psoriasis and psoriasis favoring obesity. Obesity also has important implications in the treatment of psoriasis, such as a greater risk of adverse effects with conventional systemic drugs and reduced efficacy and/or increased cost with biologic agents, for which dosage should be adjusted to the patient's weight.

An empirical model of erythemal ultraviolet radiation in the city of Valencia, Spain.

This paper presents an improved empirical model that predicts ultraviolet erythemal radiation (UVER) and considers all aspects of atmospheric conditions in Valencia, Spain. The analyzed model is a potential function whose dependent variable is UVER radiation and independent variables are the clearness index and slant ozone column. A potential regression function with all the information contributed a small coefficient of determination and one chose to use a regression potential-exponential mathematical form which improved the coefficient of similar determination. A study was carried out on the influence of season on the regression parameters. This was found to be considerable due to the clearness index. The convergence between the values calculated by the model and the experimental values was analyzed using the mean bias error (MBE) and mean absolute bias error (MABE) statistical parameters. The clearness index and ozone column intervals were analyzed and found to give an improved prediction of the UVER clearness index using regression analysis. Also, a sensitivity analysis was performed on the regression coefficients and parameters. It is important to study the effects of UVER radiation predicted by the model on human health or on agriculture crop growth and yield.

Risk factors and clinical significance of invasive infections caused by levofloxacin-resistant Streptococcus pneumoniae.

PURPOSE: Fluoroquinolones are recommended for the treatment of pneumonia. The recognition of risk factors for invasive levofloxacin-resistant Streptococcus pneumoniae is important for the design of treatment. METHODS: A retrospective review of cases of invasive pneumococcal infections in adults was undertaken. Epidemiologic data, predisposing factors, clinical variables, and outcome were recorded from previously established protocols. Antimicrobial susceptibility was determined by disk diffusion and the Etest method. Serotyping was performed by latex agglutination and Quellung reaction. RESULTS: Twenty patients with infection caused by levofloxacin-resistant pneumococci [minimum inhibitory concentration (MIC) ≥2 µg/ml] were compared with 102 patients harboring levofloxacin-susceptible strains; 80% of levofloxacin-resistant pneumococci were resistant to ≥3 antibiotics but susceptible to penicillin. Most levofloxacin-resistant strains (80%) belonged to serotype 8. In comparison, only 8% of levofloxacin-susceptible pneumococci belonged to serotype 8. In the multivariate analysis, residence in public shelters [odds ratio (OR) 26.13; p 0.002], previous hospitalization (OR 61.77; p < 0.001), human immunodeficiency virus (HIV) infection (OR 28.14; p = 0.009), and heavy smoking (OR 14.41; p = 0.016) were associated with an increased risk of infection by levofloxacin-resistant pneumococci. Mortality caused by levofloxacin-resistant and levofloxacin-susceptible pneumococci was 35 and 14%, respectively. Among HIV-positive individuals infected with levofloxacin-resistant pneumococci 44% died, but only 12.5% of HIV-positive patients with levofloxacin-susceptible strains died. CONCLUSIONS: We observed the emergence of serotype 8 as the main cause of invasive disease caused by levofloxacin-resistant S. pneumoniae. HIV-positive patients seem to be prone to infection caused by multidrug-resistant serotype 8 and have a high mortality rate.

Differences between objective efficacy and perceived efficacy in patients with palmar hyperhidrosis treated with either botulinum toxin or endoscopic thoracic sympathectomy.

BACKGROUND: Moderate to severe palmar hyperhidrosis can disturb people's work and social and emotional lives. Botulinum toxin and sympathectomy are currently considered the most effective treatment options but few studies have analysed the concordance between efficacy and patient satisfaction in comparisons of these two types of treatments. OBJECTIVE: To assess the relation between efficacy and the satisfaction of patients with palmar hyperhidrosis treated with either botulinum toxin or endoscopic thoracic sympathectomy. MATERIAL AND METHODS: This retrospective, observational study included all patients treated with either botulinum toxin or endoscopic thoracic sympathectomy in a single reference hospital in 2005-2010. Information was obtained from computerized medical records and a telephone survey about patients' educational and socio-economic level, awareness of treatment options, pre- and post-treatment severity of palmar hyperhidrosis, satisfaction and associated side effects. Predictors of efficacy and patient satisfaction with each treatment were analysed with ordinal and multinomial logistic regression models. RESULTS: Patients who underwent sympathectomy had more severe palmar hyperhidrosis but efficacy and patient satisfaction were greater compared with patients given botulinum toxin. The severity of the compensatory palmar hyperhidrosis was predictive of less satisfaction after sympathectomy. In the group treated with botulinum toxin, low socio-economic status, lack of information about treatment options, fewer sessions and a shorter anhidrotic effect were associated with less satisfaction. CONCLUSION: In studies of expectations regarding the outcome of palmar hyperhidrosis treatment, doctors should consider the factors that determine patient satisfaction in relation to the treatment options.

Relationships between fertility and some parameters in male broiler breeders (body and testicular weight, histology and immunohistochemistry of testes, spermatogenesis and hormonal levels).

In a farm of grandparent broiler breeder chickens, we followed the development of 350 roosters from 6 to 55 weeks of age. Data collected and evaluated from these males included body weight, testicular weight, histologic and immunohistochemistry studies of the testes, hormone levels (testosterone, estradiol and corticosterone) and sperm production. The objective was to understand the factors that affect or influence hatch loss that is commonly observed after 45 weeks of age in breeder flocksare often correlated to broiler breeder male chickens. The results of this study showed that in conjunction with the weight of the rooster, the testicle weight increases quickly after the rooster receives light stimulation. At an older age, the study showed that there is a process of testicular shrinkage, and the same effect is seen in sperm production and testosterone levels in broiler breeder roosters. From the histology evaluation, we defined 5 histologic phases that illustrate the evolution of the testicular tissue: perinatal, infantile, puberty, adult and senile. We observed that the adult males with a body weight <3800 g were infertile or had subfertile levels and also had low levels of testosterone and high levels of corticosterone. In contrast, the heaviest males showed correct testicular vitality, high levels of testosterone and low levels of corticosterone. However, the roosters that had acquired this high body weight were also at risk of having less complete copulations because of their physical mass. The loss of uniformity of the males and the appearance of hierarchies within the flock accompany a decline in the percentages of hatches as a consequence of the poor confirmation of the males for copulation or the restriction to the access to the females. Results of this study show that the decrease in fertility from 45 weeks of age has been associated with a decline in testicular weight, sperm production and the testosterone levels in animals with a sub-par weight. Likewise, decreasing hatch in older flocks may also result from a loss of conformation, and the lack of complete copulations is possible because of animals that are grossly overweight.

Guidelines for the use of acitretin in psoriasis. Psoriasis Group of the Spanish Academy of Dermatology and Venereology.

Phototherapy, classic systemic treatments (methotrexate, acitretin, and ciclosporin), and biologic agents (etanercept, infliximab, adalimumab, and ustekinumab) constitute a broad therapeutic arsenal that increases the likelihood of achieving control of severe and extensive disease in patients with psoriasis. Acitretin continues to be a very valuable tool in both monotherapy, in which it is combined with other systemic treatments (classic or biologic), and in sequential therapy. Thanks to its lack of a direct immunosuppressive effect and its ability to achieve a long-term response, acitretin has an important role in the treatment of psoriasis, although this has not always been acknowledged in relevant treatment guidelines. We present consensus guidelines for the use of acitretin in psoriasis drawn up by the Psoriasis Group of the Spanish Academy of Dermatology and Venereology. These guidelines provide a detailed account of acitretin, including pharmacological properties, indications and contraindications, adverse effects, and factors that should be taken into account to enhance the safe use of this drug. They also propose treatment strategies for use in routine clinical practice. The overall aim of these guidelines is to define the criteria for the use and management of acetretin in psoriasis.

Spanish evidence-based guidelines on the treatment of psoriasis with biologic agents, 2013. Part 1: on efficacy and choice of treatment. Spanish Psoriasis Group of the Spanish Academy of Dermatology and Venereology.

Biologic therapy is a well-established strategy for managing moderate and severe psoriasis. Nevertheless, the high cost of such therapy, the relatively short span of clinical experience with biologics, and the abundance of literature now available on these agents have made evidence-based and consensus-based clinical guidelines necessary. The ideal goal of psoriasis treatment is to achieve complete or nearly complete clearing of lesions and to maintain it over time. Failing that ideal, the goal would be to reduce involvement to localized lesions that can be controlled with topical therapy. Although current evidence allows us to directly or indirectly compare the efficacy or risk of primary or secondary failure of available biologics based on objective outcomes, clinical trial findings cannot be directly translated to routine practice. As a result, the prescribing physician must tailor the treatment regimen to the individual patient. This update of the clinical practice guidelines issued by the Spanish Academy of Dermatology and Venereology (AEDV) on biologic therapy for psoriasis incorporates information from the most recent publications on this topic.

[Evolution of the serotypes causing invasive pneumococcal disease along 2008-2022 in a Level 2 Public Hospital of the Madrid Region, in relation to their inclusion in different conjugate vaccines]. / Evolución de los serotipos causantes de enfermedad neumocócica invasiva aislados durante 2008-2022 en un Hospital Público Madrileño de nivel dos, en relación con su inclusión en diferentes vacunas conjugadas.

OBJECTIVE: The use of conjugate vaccines against Streptococcus pneumoniae originates changes in the invasive pneumococcal disease (IPD). The aim of this study was to in vestigate the evolution of S. pneumoniae serotypes isolated in the Hospital Universitario de Getafe between 2008 and 2022. METHODS: 313 of S. pneumoniae strains were studied. Serotyping was carried out by latex agglutination (Pneumotest-latex) and the Quellung reaction. In addition, the minimal inhibitory concentration (MIC) was determined against penicillin, erythromycin and levofloxacin by the concentration gradient method (E-test) according the EUCAST breakpoints. RESULTS: The most frequent serotypes throughout the study period were 8, 3, 19A, 1, 11A and 22F corresponding to 46.6% of the isolates. Along 2008-2012 the serotypes 3, 1, 19A, 7F, 6C and 11A represented altogether 53.6% of the isolates. Between 2013 and 2017 the serotypes 3, 8, 12F, 19A, 22F and 19F grouped 51% of the isolates. During 2018-2022 the serotypes 8, 3, 11A, 15A, 4 and 6C included the 55.5% of the cases. In total 5 strains (1.6%) were penicillin resistant, 64 (20.4%) erythromycin resistant and 11 (3.5%) levofloxacin resistant. The MIC50 and MIC90 levels maintained stables along the time. CONCLUSIONS: The conjugate vaccines use with different serotype coverage conditioned a decrease of the vaccine-included and an increase of non-covered. Despite these changes, the global antimicrobial susceptibility patterns to erythromycin and levofloxacin maintained relatively stables. The resistance a penicillin was low, not finding this type of resistant strains in the last study period.

Nanoscale investigation of AlGaN/GaN-on-Si high electron mobility transistors.

AlGaN/GaN HEMTs are devices which are strongly influenced by surface properties such as donor states, roughness or any kind of inhomogeneity. The electron gas is only a few nanometers away from the surface and the transistor forward and reverse currents are considerably affected by any variation of surface property within the atomic scale. Consequently, we have used the technique known as conductive AFM (CAFM) to perform electrical characterization at the nanoscale. The AlGaN/GaN HEMT ohmic (drain and source) and Schottky (gate) contacts were investigated by the CAFM technique. The estimated area of these highly conductive pillars (each of them of approximately 20-50 nm radius) represents around 5% of the total contact area. Analogously, the reverse leakage of the gate Schottky contact at the nanoscale seems to correlate somehow with the topography of the narrow AlGaN barrier regions producing larger currents.

Dermatosurgery: total quality management in a dermatology department.

BACKGROUND: Dermatosurgery (DS) is a growing sector in dermatology. Performance measurement is organized worldwide to improve the quality of health care. Clinical audit relies on self-assessment, comparison with guidelines, frames of references and implementation of improvement actions. OBJECTIVE: To assess the efficiency of our DS department. METHODS: A clinical audit focusing on the organization of the DS unit, patient routing, continuing medical education and training for students was conducted by two external auditors. After an initial evaluation, improvements were implemented and reassessed 1 year later by the same auditors. RESULTS: The audit resulted in the implementation of preoperative consultation, improved pre- and postoperative information leaflets for patients, standardizing of surgery reports, earmarking of funds for materials, and patient satisfaction survey. The training of residents was organized. CONCLUSION: This audit was a driving force for communication among the medical and paramedical teams and helped improve patient care and training of residents in DS. It also highlighted areas needing further improvement.

[Dermatology day-care: between official rules and reality]. / Hôpital de jour de dermatologie : entre circulaire frontière et réalité

BACKGROUND: Official rules published in 2006 and 2010 concerning ambulatory care rates in France led to artificial redistribution of this activity from day-care hospitalization to consultations. In our dermatological day-care establishment, we compared the financial costs engendered for patients admitted for day-care hospitalization and those seen at consultations. PATIENTS AND METHODS: From 2011/01/10 to 2011/02/04, for each patient, we prospectively analyzed the following data: day-care hospitalization or consultation, age, sex, diagnosis, laboratory and radiological examination, non-dermatological consultations, time spent with the patient by doctors (interns, senior doctors) and nurses, with timing by a stop-watch. The hospital cost was the total for medical examinations (official nomenclature), non-dermatological consultations, physicians' and nurses' salaries and establishment overheads (216 €). The hospital revenue regarding the consultation group consisted of the sum of reimbursement for medical examination, dermatological and non-dermatological consultations, and regarding the day-care hospitalization group, the dermatology rate (670 €) or chemotherapy sessions (380 €). Results were compared using a Chi(2) test and a Student's t-test (P ≤ 0.05). RESULTS: One hundred and twenty-seven patients were included: 67 in the day-care hospitalization group and 60 in the consultation group. Patients in the day-care hospitalization group were older and had significantly more radiological examinations and non-dermatological consultations, but the number of laboratory examinations and skin biopsies did not differ between the two groups. The mean time spent by doctors was similar in both groups but the time spent by senior doctors without the help of interns was significantly greater and longer than the time for a standard consultation. Nurses spent a mean 72 minutes with each hospitalized patient and 35 minutes with consultation patients (P = 0.007). Hospital costs were identical in both groups at around 415 €. The hospital showed a profit for day-care hospitalization patients (252 €) and a loss (244 €) for consultation patients. DISCUSSION: Half of the patients studied were in day-care hospitalization and half were seen in consultations. The high number of bed-ridden patients with bullous pemphigoid accounts for the fact that day-care patients were older. The reasons for the significantly longer time spent by nurses with day-care hospitalized patients were administration and supervision of chemotherapy, skin care and nursing of bed-ridden patients. However, nurses spent 35 min with each consultation patient, justifying the need to maintain the posts of these staff in such day-care units. The availability of physicians for patients with severe dermatoses and the organization of medical examinations in the same place in the same day underscore the need for medical structures like day-care hospitalization. At present, time spent on intellectual work involving reflection is regrettably not taken into account, which is detrimental to this specialty. The hospital was in profit for day hospitalizations while consultations resulted in losses, in particular because of the absence of social security reimbursement of the establishment's overheads. CONCLUSION: Rules are in need of modification in order to allow the treatment of patients with more complicated conditions.

Pericapsular nerve group block in hip surgery. An alternative that goes beyond what we know?

Hip fracture is a pathology usually observed in older patients, prone to complications and increased morbidity and mortality during hospital admission. The PENG (Pericapsular Nerve Group) block has recently been described to provide higher quality analgesia, favoring early ambulation. The literature search was carried out from November 2018 to July 2021 with the following keywords: pericapsular nerve group block and PENG block. Studies conducted in the pediatric population or in adults with an indication other than hip surgery were excluded; obtaining 18 articles to read in full text. The analyzed studies had positive results in favor of performing the PENG block in hip surgery. Unfortunately, the current evidence is insufficient to be able to integrate the results obtained and draw conclusions about the effectiveness and safety of the PENG block.

[SARS-CoV-2 variants, a still unfinished story]. / Variantes de SARS-CoV-2, una historia todavía inacabada.

Mutations in the SARS-CoV-2 genome can affect the gene encoding the Spike (S) antigen, which interacts with the host cell specific receptor, selecting mutant variants with changes in their infective capacity, pathogenic potential and resistance to neutralizing antibodies. The nomenclature to design the variants uses a colloquial form referred to the country or place of detection, a code from the "Pangolin" database and one from the "Nextstrain" page. New variants that have spread include the British B.1.1.7 (20I/501Y.V1), the South African B.1.351 (20H/501.V2), the Brazilian P.1 (20J/501Y.V3), the Californians B.1.427 B.1.429 (20C/S:452R) and the most recent, the Indian B.1.617 (VUI-21APR-01).The gold standard for the identification of the variants is whole genome sequencing. However, real-time PCR techniques have already been developed for the detection of specific mutations that can facilitate their presumptive identification.The impact of these variants on global vaccination programs has raised concern. It is generally thought that, since the response evoked by the vaccine against the S antigen is directed at the entire protein and the mutations only affect specific regions, the escape effect of the vaccine antibodies will be limited. Among the future strategies proposed for immuno-protection, the increase in the number of doses, the alternation of vaccines and the development of specific vaccines against different variants has been suggested.

Approach to COVID-19 pandemic management in Madrid. Chronic of a year.

After more than a year of pandemic, the international medical community has changed the perception of fear to one of respect for SARS-COV-2. This has been the consequence of the integral study of all the dimensions of the disease, from viral recombinant capacity to transmissibility, diagnosis, care and prevention. This document summarizes the main strategic lines of study and approach to the pandemic in Madrid.