Título del artículo:

\'Where is the load?\' Revisiting the Strategic Assessment of Risk and Risk Tolerance (StARRT) framework for return to sport by including an athlete\'s sport-specific training capacity?

The Strategic Assessment of Risk and Risk Tolerance (StARRT) framework has been instrumental in the way practitioners view return-to-sport (RTS) decision-making.1 2 According to the framework, RTS decisions should be based on the practitioner\'s risk assessment of outcome, involving an athlete\'s estimated risk compared with their risk tolerance within the particular context. Activity risk assessment is the second step in the StARRT framework, synthesising information relevant to the expected cumulative stresses placed on the injured tissue/structure(s). Several important factors are included in this assessment, but what is not listed is the athlete\'s sports-specific training capacity. This represents an athlete\'s overall ability to cope with diverse demands of training and competition imposed by their ecosystem and perform at the required level. It is perhaps the most ecologically important consideration since it encapsulates the \'actual\' demands and requirements of the athlete\'s sport and their level of participation.3-5 While the importance of monitoring training load in rehabilitation has been established,6 7 we emphasise that sufficient consideration has not been given to the role of the athlete\'s sports-specific training capacity in decision-making throughout the RTS continuum.5 8.

Acerca de la revista donde se publicó este artículo:

British Journal of Sports Medicine

Título del artículo:

Reactivation-dependent amnesia for object recognition memory is contingent on hippocampal theta-gamma coupling during recall

Hippocampal dopamine D1/D5 receptor-dependent destabilization is necessary for object recognition memory (ORM) updating through reconsolidation. Dopamine also regulates hippocampal theta and gamma oscillations, which are involved in novelty and memory processing. We found that, in adult male rats, ORM recall in the presence of a novel object, but not in the presence of a familiar one, triggers hippocampal theta-gamma coupling. Hippocampal theta-gamma coupling (hPAC) does not happen when ORM destabilization is prevented by blocking D1/D5 receptors, but artificial hPAC generation during recall in the presence of a familiar object enables the amnesic effect of reconsolidation inhibitors. Therefore, hPAC controls ORM destabilization, and its modulation could increase reconsolidation-based psychotherapy efficacy.

Acerca de la revista donde se publicó este artículo:

Learning and Memory

Título del artículo:

A small step, a giant leap: Somatic hypermutation of a single amino acid leads to anti-la autoreactivity

The anti-La mab 312B, which was established by hybridoma technology from human-La transgenic mice after adoptive transfer of anti-human La T cells, immunoprecipitates both native eukaryotic human and murine La protein. Therefore, it represents a true anti-La autoantibody. During maturation, the anti-La mab 312B acquired somatic hypermutations (SHMs) which resulted in the replacement of four aa in the complementarity determining regions (CDR) and seven aa in the framework regions. The recombinant derivative of the anti-La mab 312B in which all the SHMs were corrected to the germline sequence failed to recognize the La antigen. We therefore wanted to learn which SHM(s) is (are) responsible for anti-La autoreactivity. Humanization of the 312B ab by grafting its CDR regions to a human Ig backbone confirms that the CDR sequences are mainly responsible for anti-La autoreactivity. Finally, we identified that a single amino acid replacement (D > Y) in the germline sequence of the CDR3 region of the heavy chain of the anti-La mab 312B is sufficient for anti-La autoreactivity.

Acerca de la revista donde se publicó este artículo:

International Journal of Molecular Sciences

Título del artículo:

Associations of unprocessed and processed meat intake with mortality and cardiovascular disease in 21 countries [Prospective Urban Rural Epidemiology (PURE) Study]: a prospective cohort study

Background: Dietary guidelines recommend limiting red meat intake because it is a major source of medium- and long-chain SFAs and is presumed to increase the risk of cardiovascular disease (CVD). Evidence of an association between unprocessed red meat intake and CVD is inconsistent. Objective: The study aimed to assess the association of unprocessed red meat, poultry, and processed meat intake with mortality and major CVD. Methods: The Prospective Urban Rural Epidemiology (PURE) Study is a cohort of 134,297 individuals enrolled from 21 low-, middle-, and high-income countries. Food intake was recorded using country-specific validated FFQs. The primary outcomes were total mortality and major CVD. HRs were estimated using multivariable Cox frailty models with random intercepts. Results: In the PURE study, during 9.5 y of follow-up, we recorded 7789 deaths and 6976 CVD events. Higher unprocessed red meat intake (≥250 g/wk vs. <50 g/wk) was not significantly associated with total mortality (HR: 0.93; 95% CI: 0.85, 1.02; P-trend = 0.14) or major CVD (HR: 1.01; 95% CI: 0.92, 1.11; P-trend = 0.72). Similarly, no association was observed between poultry intake and health outcomes. Higher intake of processed meat (≥150 g/wk vs. 0 g/wk) was associated with higher risk of total mortality (HR: 1.51; 95% CI: 1.08, 2.10; P-trend = 0.009) and major CVD (HR: 1.46; 95% CI: 1.08, 1.98; P-trend = 0.004). Conclusions: In a large multinational prospective study, we did not find significant associations between unprocessed red meat and poultry intake and mortality or major CVD. Conversely, a higher intake of processed meat was associated with a higher risk of mortality and major CVD.

Acerca de la revista donde se publicó este artículo:

American Journal of Clinical Nutrition

Título del artículo:

Post-COVID 19 Neurological Syndrome: A fresh challenge in neurological management

Acerca de la revista donde se publicó este artículo:

Neurologia i Neurochirurgia Polska

Título del artículo:

Epidemiology of hypertension and diabetes mellitus in Latin America

Hypertension and type 2 diabetes mellitus are two important risk factors that contribute to cardiovascular diseases worldwide. In Latin America, hypertension prevalence varies from 30 to 50%. Moreover, the proportion of awareness, treatment and control of hypertension is very low. The prevalence of type 2 diabetes mellitus varies from 8 to 13% and around 40% of patients are un-aware of their condition. In addition, the prevalence of prediabetes varies from 6 to 14% and this condition has also been associated with increased risk of cardiovascular diseases. The principal factors linked to a higher risk of hypertension in Latin America are increased adiposity, low muscle strength, unhealthy diet, low physical activity and low education. Besides being chronic condi-tions, leading causes of cardiovascular mortality, both hypertension and type 2 diabetes mellitus, represent a substantial cost for the weak health systems of Latin American countries. Therefore, it is necessary to implement and reinforce public health programs to improve awareness, treatment and control of hypertension and type 2 diabetes mellitus, in order to reach the mandate of the United Nations to decrease the premature mortality for CVD.

Acerca de la revista donde se publicó este artículo:

Current Hypertension Reviews

Título del artículo:

Comparison of the effects of aerobic and force exercise in patients with heart failure after a cardiovascular rehabilitation program: randomized controlled trial

Introduction and objectives: Cardiovascular diseases are the leading cause of mortality worldwide. Currently, rehabilitation programs are shown as adequate treatments to mitigate the effects of heart failure. The main objective is to compare the effects of aerobic exercise and strength in patients with heart failure after a cardiovascular rehabilitation program. Material and methods: Randomized controlled trial over a period of three years with a sample of 920 patients with heart failure distributed in two groups (aerobic exercise plus upper limb -MMSS- training and aerobic exercise plus training of lower limbs -MMII-). Blood samples were taken to determine blood glucose levels and lipid profile. In addition, tests for aerobic capacity, maximum heart rate, anthropometry, depression, anxiety, clinical and hemodynamic parameters. The tests were performed before and after 24 training sessions, 60 min, three times a week for two months. Results: Comparing the results between the groups, it was possible to show better results in the majority of the variables of group 2 (aerobic exercise + strength training MMII) (p ≤ 0.05%). However, no signifi cant post training diff erences were found in the HDL, LDL and triglyceride variables (p ≤ 0.05%). Conclusions: An aerobic training program combined with strength for patients with heart failure improves aerobic capacity, exercise tolerance, ejection fraction, glycemic indexes, MHR, muscle percentage and decreases body fat percentage and levels of depression and anxiety. These benefi ts stand out to a greater extent in an aerobic workout combined with MMII strength.

Acerca de la revista donde se publicó este artículo:

Cardiovascular and Metabolic Science

Título del artículo:

Previous injury is associated with heightened countermovement jump force-time asymmetries in professional soccer players

Previous injury is associated with increased risk of future injury. Residual inter-limb deficits are a potential contributing factor leading to compensatory movement patterns on return to sport. The purpose of this study was to examine the effects of previous severe injury on bilateral ground reaction force asymmetries measured during a countermovement jump using a dual force platform. A total of 34 male professional soccer players (age 19 ± 2 years) were subdivided into two groups; previous severe injury (N = 17) or no severe injury (N = 17). Previously injured players showed significantly greater asymmetry in concentric phase variables (P < 0.05) with strong effect sizes (range = 0.99-1.35). These players also showed significantly elevated asymmetry in eccentric phase variables (P < 0.05) and medium to large effect sizes (range = 0.73-1.05), with the exception of eccentric deceleration impulse (P > 0.05; d = 0.33). There were no significant between-group differences in bilateral jump performance parameters (P > 0.05). These data indicate that despite being cleared to return to sport, participating in elite-level training, full competition and exhibiting no decrements in jump performance, significant inter-limb asymmetries persist in the concentric and eccentric phases of the CMJ.

Acerca de la revista donde se publicó este artículo:

Translational Sports Medicine

Título del artículo:

Antifungal activity of Co(II) and Cu(II) complexes containing 1,3-bis(benzotriazol-1-yl)-propan-2-ol on the growth and virulence traits of fluconazole-resistant Candida species: synthesis, DFT calculations, and biological activity

Relevant virulence traits in Candida spp. are associated with dimorphic change and biofilm formation, which became an important target to reduce antifungal resistance. In this work, Co(II) complexes containing a benzotriazole derivative ligand showed a promising capacity of reducing these virulence traits. These complexes exhibited higher antifungal activities than the free ligands against all the Candida albicans and non-albicans strains tested, where compounds 2 and 4 showed minimum inhibitory concentration values between 15.62 and 125 μg mL−1. Moreover, four complexes (2–5) of Co(II) and Cu(II) with benzotriazole ligand were synthesized. These compounds were obtained as air-stable solids and characterized by melting point, thermogravimetric analysis, infrared, Raman and ultraviolet/visible spectroscopy. The analysis of the characterization data allowed us to identify that all the complexes had 1:1 (M:L) stoichiometries. Additionally, Density Functional Theory calculations were carried out for 2 and 3 to propose a probable geometry of both compounds. The conformer Da of 2 was the most stable conformer according to the Energy Decomposition Analysis; while the conformers of 3 have a fluxional behavior in this analysis that did not allow us to determine the most probable conformer. These results provide an important platform for the design of new compounds with antifungal activities and the capacity to attack other target of relevance to reduce antimicrobial resistance.

Acerca de la revista donde se publicó este artículo:

BMC Chemistry

Título del artículo:

Sugar-sweetened beverage intakes among adults between 1990 and 2018 in 185 countries

Sugar-sweetened beverages (SSBs) are associated with cardiometabolic diseases and social inequities. For most nations, recent estimates and trends of intake are not available; nor variation by education or urbanicity. We investigated SSB intakes among adults between 1990 and 2018 in 185 countries, stratified subnationally by age, sex, education, and rural/urban residence, using data from the Global Dietary Database. In 2018, mean global SSB intake was 2.7 (8 oz = 248 grams) servings/week (95% UI 2.5-2.9) (range: 0.7 (0.5-1.1) in South Asia to 7.8 (7.1-8.6) in Latin America/Caribbean). Intakes were higher in male vs. female, younger vs. older, more vs. less educated, and urban vs. rural adults. Variations by education and urbanicity were largest in Sub-Saharan Africa. Between 1990 and 2018, SSB intakes increased by +0.37 (+0.29, +0.47), with the largest increase in Sub-Saharan Africa. These findings inform intervention, surveillance, and policy actions worldwide, highlighting the growing problem of SSBs for public health in Sub-Saharan Africa.

Acerca de la revista donde se publicó este artículo:

Nature Communications

Título del artículo:

Metacognition as a factor of empowerment and development of learning skills in students.

The objective of this research article was to analyze the essential characteristics of metacognition in the teaching processes used as a didactic strategy for the development of learning skills in high school students and technical labor education of the Institute for Work and Human Development, Edunorte, Cucuta SAS. It was a mixed study, with field design and descriptive level. We worked with a population of 161 high school students and 25 teachers. The collection techniques were the survey for students and the interview for teachers. Regarding the questionnaire for students, a validated instrument was used, and for the interview, a script was designed and validated by expert judgment, based on the dimensions of reference authors. For the student questionnaire, a Cronbach\'s Alpha of 0.873 was calculated, very comparable with the validated original. The study was divided into two stages: the handling of the elements of metacognition in the learning processes by the students; and the incorporation of metacognition as a strategy for the development of competencies by teachers. In the results, it was found that, from the perspective of the students, there are quantitative results that show weaknesses in learning based on goals and objectives, personal learning planning, and repetition or change of strategy to improve learning. Teachers have a high determination of metacognitive processes, with the contribution of detecting weaknesses that can hinder student metacognition in their teaching processes, being challenges for the improvement of teaching and learning processes based on metacognition.

Acerca de la revista donde se publicó este artículo:

Aibi, Revista de Investigacion Administracion e Ingenierias

Título del artículo:

Including Sustainability Criteria in the Front End of Innovation in Technology Ventures

This study evaluates the presence of sustainability parameters in the product development process, especially in the early stages of innovation, using the Sustainability Technology Readiness Level (STRL) tool. STRL assesses the initial planning of products or product and service systems (PSS) and suggests possibilities for incorporating sustainable features in the short, medium, and long term based on responses from startups (EBTs). The research was conducted in two ecosystems at different maturity levels: Florianópolis (Brazil), a more mature stage, and Santander (Colombia), which is growing, considering their cultural and social differences. To validate the STRL tool, four out of the eighteen winning startups from the MuEBTe SANTANDER public funding project in Colombia were selected. Characteristics of the two researched ecosystems, their actors, strengths, approaches, and expansion possibilities were identified and compared. The innovation lies in establishing a sustainable baseline when applying the tool by acquiring the front-end characteristic matrix. It was observed that sustainability as a variable has relevance and independence from product design in product planning, allowing for the selection of short, medium, and long-term actions throughout the product’s lifecycle. It was concluded that considering sustainability involves context and vision, resulting in significant choices of materials, processes, and production methods that add value and appreciation for the customer.

Acerca de la revista donde se publicó este artículo:

Sustainability (Switzerland)

Título del artículo:

Graphic representations of health: a look from the children on the move in Medellín

Acerca de la revista donde se publicó este artículo:

MedUNAB

Título del artículo:

A global action agenda for turning the tide on fatty liver disease

Background and Aims: Fatty liver disease is a major public health threat due to its very high prevalence and related morbidity and mortality. Focused and dedicated interventions are urgently needed to target disease prevention, treatment, and care. Approach and Results: We developed an aligned, prioritized action agenda for the global fatty liver disease community of practice. Following a Delphi methodology over 2 rounds, a large panel (R1 n = 344, R2 n = 288) reviewed the action priorities using Qualtrics XM, indicating agreement using a 4-point Likert-scale and providing written feedback. Priorities were revised between rounds, and in R2, panelists also ranked the priorities within 6 domains: epidemiology, treatment and care, models of care, education and awareness, patient and community perspectives, and leadership and public health policy. The consensus fatty liver disease action agenda encompasses 29 priorities. In R2, the mean percentage of “agree” responses was 82.4%, with all individual priorities having at least a super-majority of agreement (> 66.7% “agree”). The highest-ranked action priorities included collaboration between liver specialists and primary care doctors on early diagnosis, action to address the needs of people living with multiple morbidities, and the incorporation of fatty liver disease into relevant non-communicable disease strategies and guidance. Conclusions: This consensus-driven multidisciplinary fatty liver disease action agenda developed by care providers, clinical researchers, and public health and policy experts provides a path to reduce fatty liver disease prevalence and improve health outcomes. To implement this agenda, concerted efforts will be needed at the global, regional, and national levels.

Acerca de la revista donde se publicó este artículo:

Hepatology

Título del artículo:

The Benefits of Polypill: Adherence and Chronotherapy [Response to Letter]

Acerca de la revista donde se publicó este artículo:

Vascular Health and Risk Management

Título del artículo:

Risk of eating disorders associated with the nutritional status of adolescents

Introduction: Eating disorders are described as complex disorders comprising two types of behavioral alterations: some directly related to food and weight and others derived from the relationship with oneself and others. Objective: To describe the risks of eating behaviors associated with the nutritional status of adolescents from public schools in Bucaramanga. Materials and methods: Observational, descriptive, cross-sectional study. The population corresponds to 471 adolescents between 10 and 19 years of age, from 19 educational institutions of the public network of Bucaramanga, multistage probabilistic sampling, the eating attitudes test (EAT26) was used, the perception of body image, comparisons were made according to sex and nutritional status with the X2 test. Results: Discussion and conclusions: Participants with eating behavior disorders have higher percentages in those with altered nutritional status (severe malnutrition, overweight and obesity) and differences were identified regarding body image according to nutritional status.

Acerca de la revista donde se publicó este artículo:

Cultura de los Cuidados

Título del artículo:

Hospital waste management in a Service Provider Institution of the municipality of Los Patios, Norte de Santander, Colombia

Objective To analyze the process of integrated management of hospital and similar waste in a Service Provider Institution in the municipality of Los Patios, Norte de Santander. The established criteria in Decree 351 of 2014 and Resolution 1164 of 2002 were used. Method Mixed research was conducted using a combination of qualitative and quanti-tative paradigms. The study employed a field and bibliographic design at a descriptive level, involving a population of 90 officials assigned to the hospital entity. The data collection techniques utilized were interviews, surveys, and direct observation. Quan-titative data was processed using descriptive statistics, while qualitative information supported the triangulation of observations. Results First, the study revealed that 53.92% of the waste generated was classified as non-hazardous, while 46.08% was categorized as hazardous waste. Among the hazardous waste, a significant proportion of 96.60% was identified as infectious or biohazar-dous waste. Furthermore, the criteria considered for the management and disposal of hospital waste were described. Conclusions The health institution in the municipality of Los Patios has implemented an Integral Management Plan for Hospital and Similar Waste, which is currently in progress. However, there is a need to propose specific improvements to enhance its operations due to the identification of certain weaknesses. These weaknesses primarily pertain to the management of waste itself, as well as the lack of information among some staff members regarding the plan, its signi-ficance, and its proper management.

Acerca de la revista donde se publicó este artículo:

Revista de Salud Publica

Título del artículo:

Desmoplastic infantile ganglioglioma with late presentation: A clinical, radiological and histopathological analysis

Desmoplastic infantile ganglioglioma (DIG) is a rare supratentorial tumor in the central nervous system. Definitive diagnosis of this neoplasm is based on histopathologic analysis evaluating distinctive findings such as the fibroblastic differentiation. Here we present a clinical case of DIG with a long follow-up in an eight-year-old boy with a six-month history of recurrent emesis, psychomotor hyperactivity and generalized tonic-clonic seizures. Computed tomography scan and magnetic resonance imaging (MRI) showed a cystic, heterogeneous, mass on the right temporal uncus. A histopathological diagnosis of late presentation DIG was made. We documented the immunohistochemical expression of a molecular soft tissue / muscle differentiation marker (h-CaD) in addition to a low proliferative index (Ki-67) in this case. After surgical intervention, a control MRI showed changes of right frontal-temporal craniotomy and a persistent mass in the anterior and medial temporal lobe with basal extension. Further surgical intervention was performed, completely removing the tumor, which had the same characteristics. The patient is asymptomatic while receiving anticonvulsant therapy (phenytoin) with no evidence of tumor recurrence on MRI after a follow-up of five years. The low grade and soft tissue appearance in images are correlated with the histopathologic and immunohistochemical profile of this tumor, but the rarity of this tumor makes a presumptive diagnosis by images a challenge. The above-mentioned molecular markers or new ones could be used as molecular targets for molecular imaging studies to increase the probability of a pre-operative diagnosis based on molecular features through images.

Acerca de la revista donde se publicó este artículo:

Neuroradiology Journal

Título del artículo:

Primary gliosarcoma of the brain: Radiologic and histopathologic features

Gliosarcoma is a rare central nervous system (CNS) neoplasm with biphasic glial and non-glial malignant components. Here we describe the radiologic and histopathologic features observed in five cases of primary gliosarcoma. The mean age at diagnosis in the studied patients was 54.2 years; these patients were predominantly males (male: female ratio = 4:1). At diagnosis all patients had several clinical deterioration. The most common symptoms of presentation were: headache (5/5 cases), seizures (4/5 cases) and hemiparesis (1/5 cases). All the tumors were large (mean major diameter= 4.12±1.64 cm) at diagnosis as evidenced in computer tomography (CT) scans and magnetic resonance images (MRIs), with preferential involvement of the temporal lobe and frequent associated deviation of the midline structures. Other common characteristics identified on CT scans and MRIs were partial contrast medium uptake with annular pattern (5/5 cases), peripheral edema (5/5 cases), and central calcification (3/5 cases). In additional a peak of dye uptake was observed (4/5 cases) on MRI spectrometry. In the histopathology, the glial component showed malignant astrocytes, with high Ki67 (>60%) and p53 positivity; the sarcomatous components displayed pleomorphic spindle cells similarly with p53 positivity and high Ki67 (75-90%) in all cases. Dedifferentiation to pleomorphic sarcoma (two cases), fibrosarcoma (one case), leiomyosarcoma (one case) and MPNST (one case) were documented. All patients received radiotherapy/chemotherapy and had a median overall survival of ten months. The study of radiologic and histopathologic features in primary gliosarcomas of the brain is a priority to achieve early diagnosis that can be translated to better outcomes. Here we describe the radiologic and histopathologic features observed in a group of gliosarcoma patients with variable histopathologic dedifferentiation.

Acerca de la revista donde se publicó este artículo:

Neuroradiology Journal

Título del artículo:

Ambulatory monitoring of blood pressure versus measurement in the office what is better: The ideal or the possible well done?

Acerca de la revista donde se publicó este artículo:

Revista Colombiana de Cardiologia

Título del artículo:

Characterization of the disability in a sample of children with Cerebral Palsy from Bucaramanga and its metropolitan area, Colombia

Background: The occurrence of CP in industrialized countries ranges from 2 to 2.5 cases for every 1,000 live births, the prevalence of low birth weight, maternal conditions, obstetric and inbreeding have been decisive. This condition leads to limitations and restrictions in different roles an individual can play in society which can be facilitated or inhibited according to the different factors of the context in which it operates, therefore the condition of physical harm has to a disability. Objective. To determine the sociodemographic, neonatal history, disability status and level of gross motor function in children with cerebral palsy 2-12 years of Bucaramanga and its metropolitan area. Material and methods. We performed a cross-sectional study with a sample of 60 participants selected for convenience. The level of gross motor function was assessed using the classification system of the gross motor function (GMFCS). The analysis calculated absolute and relative frequencies. Results. The largest age group was between 6 and 12 years 61.6%, 50% were female and the majority belonged to the socioeconomic stratum 2 (43.3%), representing the lower class stratification as in Colombia; 56, 7% of children lived with both parents, found that 55% of households had >1 y <2 Current legal minimum monthly wage and the health system was the most common tax (65%). According to the classification with GMFCS, we found that 38.3% of children were at level V, 25.0% in Level I, Level IV 16.7%, 13.3% in level III and level II 6.7%. Body structures most affected were the central nervous system with 78.3%, followed by deficiencies in the structures for movement (upper and lower limbs) with 20.0%. Conclusion. It is found that the severity of gross motor function is directly related to functional abilities, the need for elements of support and caregiver.

Acerca de la revista donde se publicó este artículo:

Revista Facultad de Medicina

Título del artículo:

Physical–Chemical and Metataxonomic Characterization of the Microbial Communities Present during the Fermentation of Three Varieties of Coffee from Colombia and Their Sensory Qualities

The microbial composition and physical-chemical characteristics were studied during the coffee fermentation of three Coffea arabica L. varieties, Var. Tabi, Var. Castillo General® and Var. Colombia. Mucilage and washed coffee seeds samples were collected at different stages of fermentation. Mucilage microbiology characterization and metataxonomic analysis were performed using 16S rDNA sequencing to determine bacterial diversity and ITS sequencing for fungal diversity. Additionally, the microorganisms were isolated into pure cultures. The molecular diversity analyses showed similarities in microorganisms present during the fermentation of Var. Castillo General and Var. Colombia, which are genetically closely related; mixed-acid bacteria (Enterobacteriaceae, Tatumella sp.) and lactic acid bacteria (Leuconostoc sp., Weissella sp. and Lactobacillaceae) were common and predominant, while in Var. Tabi, acetic acid bacteria (Gluconobacter sp. and Acetobacter sp.) and Leuconostoc sp. were predominant. At the end of the fermentation period, the fungi Saccharomycodaceae, Pichia and Wickerhamomyces were found in Var. Castillo General and Var. Colombia, while in Var. Tabi, Saccharomycodaceae, Pichia and Candida were recorded. Sensory analyses of the coffee beverages were carried out (SCA methodology) for all samples. Var. Tabi had the highest SCA score, between 82.7 and 83.2, while for Var. Colombia, the score ranged between 82.1 and 82.5. These three coffee varieties showed potential for the production of specialty coffees influenced by spontaneous fermentation processes that depend on microbial consortia rather than a single microorganism.

Acerca de la revista donde se publicó este artículo:

Agriculture (Switzerland)

Título del artículo:

Mutación autosómica recesiva en el gen NCF 2 que codifica para P67 PHOX, primera descripción de este tipo de mutación en la literatura de un grupo familiar con enfermedad granulomatosa crónica en Suramérica

Acerca de la revista donde se publicó este artículo:

Iatreia

Título del artículo:

Mutation in the KCNA2 Gene, Heterozygous Variant of Uncertain Clinical Significance, First Case Description in the Scientific Medical Literature

Introduction: Pathogenic variants in the KCNA2 gene (OMIM *176262) are associated with developmental and epileptic encephalopathy 32 (MIM #616366) with autosomal dominant inheritance. Objectives: To present the first case in the scientific medical literature concerning a heterozygous variant of uncertain clinical significance (VUS) in the KCNA2 gene. Methods: This involves a 17-year-old female patient with diffuse sensory motor axonal polyneuropathy and drug-resistant epilepsy, referred for evaluation, leading to a genetic assessment. Results: A heterozygous variant of uncertain clinical significance (VUS) in the KCNA2 gene has been identified, involving the change of an adenine to a guanine at position 925 of the cDNA, in exon 3 of the gene (c.925A>G), resulting in a missense change from arginine to glycine at amino acid 309 (p.Arg309Gly) in the protein, an evolutionarily conserved amino acid. This variant is reported in the ClinVar database (Variant ID: 1313559) and classified as VUS. It is not listed in databases such as the Human Gene Mutation Data Base (HGMD), Leiden Open Variation Data Base (LOVD), or in the consulted scientific literature. The allelic frequency is unknown in the control population (gnomAD). In silico predictors (SFIT, Polyhen-2, LRT, MutationTaster, MutationAssesor, FATHHM, MetaSMV) classify this variant as deleterious. Conclusions: This case is anecdotal and demonstrates our limited knowledge about the genetic correlation and neurological disorders. We hope that genetic research in this field will continue to develop.

Acerca de la revista donde se publicó este artículo:

Iatreia

Título del artículo:

Genética como determinante de estado de hipercoagulabilidad por mutación C677T MTHFR, presentación de 1 caso clínico en Colombia

Acerca de la revista donde se publicó este artículo:

Iatreia