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Background: Internet-delivered interventions offer a feasible way to facilitate access to mental healthcare and considerable evidence supports their effectiveness for the treatment of different mental disorders. However, potential users’ attitudes toward these interventions are crucial for their successful implementation. A better understanding of factors related to treatment acceptance and adherence is required to exploit the full potential of internet interventions. Hence, the aim of the present work was to analyze the acceptability of a therapist-guided internet-delivered CBT intervention for adjustment disorder and its impact on treatment outcomes.Methods: The acceptability was estimated from the acceptance to participate in the randomized controlled trial addressed to explore the effectiveness of the internet intervention in question. Other indicators of acceptability were treatment adherence, expectations, satisfaction, and opinion reported by 34 participants from the trial.Results: Willingness to try an internet intervention was observed and 76.5% of participants completed all seven treatment modules. Less positive initial expectations did not reduce treatment effectiveness, yet they might have led to treatment abandonment. Overall, participants were satisfied with the internet intervention and perceived it as a useful, comfortable and attractive way of receiving psychological assistance. Treatment modules aimed at promoting identification with the treatment goals, relapse prevention, and change in the meaning of the stressor were found to be related to posttraumatic growth and increase in positive affect and quality of life. Participants also expressed that the intervention required considerable motivation. In this regard, therapeutic support was perceived as an important adherence facilitator.Conclusion: The findings from this work support the suitability of internet interventions for the treatment of adjustment disorder. However, further research is required in order to develop guidelines for the design of more attractive and engaging internet interventions.

Background: More research is needed in the field of Internet-delivered Cognitive Behavioral Treatments (ICBTs) for specific phobia in order to understand which characteristics are important in online exposure scenarios. The aim of the present work was to conduct a feasibility pilot study to explore participants' opinions, preferences, and acceptability ratings of two types of images (still images vs 360° navigable images) in an ICBT for Flying Phobia (FP). A secondary aim was to test the potential effectiveness of the two active treatment arms compared to a waiting list control group. An exploratory aim was to compare the role of navigable images vs. still images in the level of sense of presence and reality judgment and explore their possible mediation in treatment effectiveness. Methods: Participants were randomly allocated to three conditions: NO-FEAR Airlines with still images (n = 26), NO-FEAR Airlines with still and navigable images (n = 26), and a waiting list group (n = 26). Primary outcome measures were participants' opinions, preferences, satisfaction, and acceptance regarding the images used in the exposure scenarios. Secondary outcome measures included FP symptomatology outcomes and measures of sense of presence and reality judgment. Results: Participants in the study preferred navigable images over still images before and after treatment (over 84%), and they considered them more effective and logical for the treatment of their problem. However, adherence in the experimental conditions was low (42.3% dropout rate), and more participants withdrew from the group that included navigable images compared to the group that only included still images (14 vs. 8), with no statistical differences in attrition between the two conditions. NO-FEAR Airlines proved to be effective in reducing FP symptomatology compared to the control group, with large between-group effect sizes on all FP measures (ranging from 0.76 to 2.79). No significant mediation effect was found for sense of presence or reality judgment in treatment effectiveness. Discussion: The results of the current study suggest that participants prefer more immersive images in exposure scenarios, providing data that can help to design useful exposure scenarios to treat specific phobias in the future. They also provide evidence supporting the effectiveness of an ICBT for FP. Trial registration: Registered at Clinicaltrials.gov (NCT03900559) on April 9, 2019. Retrospectively registered.

Abstract Background The Positive and Negative Affect Schedule (PANAS) is the most widely and frequently used scale to assess positive and negative affect. The PANAS has been validated in several languages, and it has shown excellent psychometric properties in the general population and some clinical samples, such as forensic samples, substance users, and adult women with fibromyalgia. Nevertheless, the psychometric properties of the scale have not yet been examined in clinical samples with anxiety, depressive, and adjustment disorders. In addition, the proliferation of Internet-based treatments has led to the development of a wide range of assessments conducted online with digital versions of pen and paper self-report questionnaires. However, no validations have been carried out to analyze the psychometric properties of the online version of the PANAS. The present study investigates the psychometric properties of the online Spanish version of the PANAS in a clinical sample of individuals with emotional disorders. Methods The sample was composed of 595 Spanish adult volunteers with a diagnosis of depressive disorder (n = 237), anxiety disorder (n = 284), or adjustment disorder (n = 74). Factor structure, construct validity, internal consistency, and sensitivity to change were analyzed. Results Confirmatory factor analysis yielded a latent structure of two independent factors, consistent with previous validations of the instrument. The analyses showed adequate convergent and discriminant validity, good internal consistency as well as sensitivity to change. Conclusions Overall, the results obtained in this study show that the online version of the PANAS has adequate psychometric properties for the assessment of positive and negative affect in a Spanish clinical population.

Internet- and mobile-based interventions (IMIs) are being developed for a wide range of psychological disorders and they showed their effectiveness in multiple studies. Specific phobia (SP) is one of the most common anxiety disorders, and research about IMIs for their treatment has also been conducted in recent years. The aim of this paper was to conduct a systematic review and preliminary meta-analysis exploring IMIs for the treatment of SP. A comprehensive search conducted in five different databases identified 9 studies (4 pre-post studies, 5 randomized controlled trials) with 7 Internet-based interventions and 2 mobile-based interventions. Results showed that exposure was the main component of all interventions, and that animal phobia was the most common subtype. Samples included children, adolescents, and adults. A preliminary meta-analysis of the included studies showed that participants receiving IMIs experienced a significant reduction of SP symptoms from pre- to post-treatment (g = 1.15). This systematic review found that there is already some evidence in the literature supporting the potential benefits of IMIs for SP. However, the number of studies included is small and more research should be carried out in the field.

Introduction Grief is an emotional reaction to the loss of a loved one with a natural recovery. Approximately 10% of people who lose a loved one develop prolonged grief disorder (PGD). Internet-based and computer-based interventions (ie, internet-delivered cognitive–behavioural therapy, iCBT) are a cost-effective alternative that makes it possible to reach more people with PGD. The main aim of this study is to assess the feasibility of a new iCBT—called GROw—for PGD. As a secondary objective, the potential effectiveness of GROw will be explored.Methods and analysis This study is a two-arm feasibility randomised trial. A total of 48 adults with PGD who meet the eligibility criteria will be randomised to the experimental group (iCBT: GROw) or the active control group (face-to-face CBT treatment). The treatment is organised sequentially in eight modules in the iCBT format and 8–10 sessions in the face-to-face format, and both formats have the same therapeutic components. There will be five assessment points with qualitative and quantitative evaluations: screening, baseline, after the intervention, 3-month follow-up and 12-month follow-up. Consistent with the objectives, the measures are related to the feasibility outcomes for the main aim of the study (participant adherence, expectations and satisfaction with the treatment, preferences, alliance and utility) and psychological and mental health outcomes for secondary analyses (symptoms of grief, symptoms of depression, symptoms of anxiety, affectivity, quality of life, work and social adaptation, post-traumatic growth, purpose in life, mindfulness and compassion).Ethics and dissemination The Ethics Committee of the Universitat Jaume I (Castellón, Spain) granted approval for the study (CD/002/2019). Dissemination will include publications and presentations at national and international conferences.Trial registration number NCT04462146.

Abstract Background Internet-based treatments appear to be a promising way to enhance the in vivo exposure approach, specifically in terms of acceptability and access to treatment. However, the literature on specific phobias is scarce, and, as far as we know, there are no studies on Flying Phobia (FP). This study aims to investigate the effectiveness of an Internet-based exposure treatment for FP (NO-FEAR Airlines) that includes exposure scenarios composed of images and sounds, versus a waiting-list control group. A secondary aim is to explore two ways of delivering NO-FEAR Airlines, with and without therapist guidance. Methods A randomized controlled trial (RCT) was conducted in which 69 participants were allocated to: 1) NO-FEAR Airlines totally self-applied, 2) NO-FEAR Airlines with therapist guidance, 3) a waiting-list control group. Primary outcome measures were the Fear of Flying Questionnaire-II and the Fear of Flying Scale. Secondary outcomes included the Fear and Avoidance Scales, Clinician Severity Scale, and Patient’s Improvement scale. Behavioral outcomes (post-treatment flights and safety behaviors) were also included. Mixed-model analyses with no ad hoc imputations were conducted for primary and secondary outcome measures. Results NO-FEAR Airlines (with and without therapist guidance) was significantly effective, compared to the waiting list control group, on all primary and secondary outcomes (all ps

Background: Flying Phobia (FP) is a prevalent disorder that can cause serious interference in a person's life. ICBT interventions have already shown their efficacy in several studies, but studies in the field of specific phobias are still scarce. Moreover, few studies have investigated the feasibility of using different types of images in exposure scenarios in ICBTs and no studies have been carried out on the role of sense of presence and reality judgement. The aim of the present study is to explore the feasibility of an ICBT for FP (NO-FEAR Airlines) using two types of images with different levels of immersion (still and navigable images). A secondary aim is to explore the potential effectiveness of the two experimental conditions using two types of images compared to a waiting list control group. Finally, the role of navigable images compared to the still images in the level of anxiety, sense of presence, and reality judgement will also be explored. This paper presents the study protocol. Methods: This study is a three-armed feasibility pilot study with the following conditions: NO-FEAR Airlines with navigable images, NO-FEAR Airlines with still images, and a waiting list group. A minimum of 60 participants will be recruited. The intervention will have a maximum duration of 6 weeks. Measurements will be taken at four different moments: baseline, post-intervention, and two follow-ups (3- and 12-month). Participants' opinions, preference, satisfaction and acceptance regarding the images used in the exposure scenarios will be assessed. FP symptomatology outcomes will also be considered for secondary analyses. The anxiety, sense of presence, and reality judgement in the exposure scenarios will also be analysed. Discussion: This study will conduct a pilot study on the feasibility of an ICBT for FP and it is the first one to explore the evaluation of patients of the two type of images (still and navigable) and the role of presence and reality judgement in exposure scenarios delivered through the Internet. Research in this field can have an impact on the way these scenarios are designed and developed, as well as helping to explore whether they have any effect on adherence. Trial registration: NCT03900559. Trial Registration date 3 April 2019, retrospectively registered.

Abstract Background Polygenic risk scores (PRS) derived from European individuals have reduced portability across global populations, limiting their clinical implementation at worldwide scale. Here, we investigate the performance of a wide range of PRS models across four ancestry groups (Africans, Europeans, East Asians, and South Asians) for 14 conditions of high-medical interest. Methods To select the best-performing model per trait, we first compared PRS performances for publicly available scores, and constructed new models using different methods (LDpred2, PRS-CSx and SNPnet). We used 285 K European individuals from the UK Biobank (UKBB) for training and 18 K, including diverse ancestries, for testing. We then evaluated PRS portability for the best models in Europeans and compared their accuracies with respect to the best PRS per ancestry. Finally, we validated the selected PRS models using an independent set of 8,417 individuals from Biobank of the Americas-Genomelink (BbofA-GL); and performed a PRS-Phewas. Results We confirmed a decay in PRS performances relative to Europeans when the evaluation was conducted using the best-PRS model for Europeans (51.3% for South Asians, 46.6% for East Asians and 39.4% for Africans). We observed an improvement in the PRS performances when specifically selecting ancestry specific PRS models (phenotype variance increase: 1.62 for Africans, 1.40 for South Asians and 0.96 for East Asians). Additionally, when we selected the optimal model conditional on ancestry for CAD, HDL-C and LDL-C, hypertension, hypothyroidism and T2D, PRS performance for studied populations was more comparable to what was observed in Europeans. Finally, we were able to independently validate tested models for Europeans, and conducted a PRS-Phewas, identifying cross-trait interplay between cardiometabolic conditions, and between immune-mediated components. Conclusion Our work comprehensively evaluated PRS accuracy across a wide range of phenotypes, reducing the uncertainty with respect to which PRS model to choose and in which ancestry group. This evaluation has let us identify specific conditions where implementing risk-prioritization strategies could have practical utility across diverse ancestral groups, contributing to democratizing the implementation of PRS.

Dietary fibre from plant-based sources provides essential nutrients and antioxidants that promote overall health and protect against various chronic conditions. The objective of this study was to review the industrial applications and future aspects of different types of dietary fibre. This review explored the multifaceted nature of dietary fibres, emphasising their impact on digestive health, heart health, weight management, blood sugar control, and their role in preventing chronic diseases. Additionally, it delves into the sustainable aspects of dietary fibre and the promising future prospects they hold in personalised nutrition, gut health, and sustainable food production.

As a tropical fruit, the banana is one of the favorite fruits, and the banana herb only bears fruit once in its lifespan; it is chopped off after harvesting, and only 40% of it is adequately utilized, leaving the remaining 60% as trash rich in cellulose, hemicellulose, and natural fibers. The pseudostem accounts for 75% of the waste, with the rest accounting for 25%. The purpose of this paper is to raise important awareness about the bioactive chemicals found in banana pseudostems hence they can be considered as sustainable foods and their applications as culinary raw materials and in other sectors. Even though bulk waste is biodegradable, it causes many problems in our environment, so sustainable waste usage with proper management and utilization of the residues can not only help in the utilization of the bioactive and nutrient compounds present but also increase the economic and environmental issues associated with the problem. The banana pseudostem is used in various businesses as culinary ingredients, fibers, and hazardous removers. Even when used for heavy metal treatment in wastewater, the fiber in it is strong enough to manufacture cardboard and food packaging materials. Some pseudostem types can even be extracted for pectin and used as food additives. The powdered pseudostem is used to boost the nutritional content of numerous recipes. In summary, the banana pseudostem can be divided into two first the central core part that can be used as food raw material and other outer sheaths in various different industries.

AbstractFlaxseed is a nutritional powerhouse, packed with essential nutrients such as omega-3 fatty acids, notably alpha-linolenic acid, Secoisolariciresinol diglucoside (SDG), lignans, protein, soluble fiber, and an array of phenolic compounds. This holistic nutritional profile makes flaxseed a remarkable dietary addition. A mere serving of flaxseed offers substantial protein, fiber, and omega-3 fatty acids, making it an ally in weight management, blood pressure regulation, and the reduction of cancer risk and inflammation. These health benefits make flaxseed an attractive choice for individuals seeking to improve their overall well-being. Flaxseed’s appeal goes beyond its nutritional advantages. Its mild, nutty flavour and crispy texture make it a versatile ingredient that elevates the taste and consistency of a wide range of recipes. Whether sprinkled on yogurt, blended into smoothies, or used as a binder in baking, flaxseed’s culinary applications are as diverse as they are delightful. Furthermore, flaxseed’s potential uses extend into the food industry, aligning with Sustainable Development Goal 3, which promotes good health and well-being. The current applications of flaxseeds for attaining strategic solutions in areas of textiles, paper production, biofuels and health supplements is considered as an industrial novelty. Flaxseed’s incorporation into food products contributes to the development of health-conscious and sustainable dietary options.

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Abstract Belantamab mafodotin is the first‐in‐class antibody‐drug conjugates targeting B‐cell maturation antigen to have demonstrated effectiveness in triple‐class refractory multiple myeloma (TCR‐MM) patients. We performed a retrospective study including 78 TCR patients, with at least four prior lines of therapy (LOTs), who received belantamab mafodotin within named patient program and expanded access program in Italy between 2020 and 2022. Median age was 65 years (range 42–86 years), ECOG performance status was ≥1 in 45% of patients. Overall, a clinical benefit was obtained in 36 out of 74 evaluable patients (49%), with 43%, 28%, and 13.5% achieving at least partial response, very good partial response, and complete response, respectively. After a median follow‐up of 12 months (range 6–21 months), median duration of response, progression‐free survival (PFS), and overall survival (OS) were 14, 5.5, and 12 months, respectively. Age >70 years, good performance status and response were associated with longer PFS and OS. Keratopathy occurred in 58% of patients (G3 2.5%), corneal symptoms in 32% (G3 1.2%) and a reduction in visual acuity in 14%. Grade 3 thrombocytopenia occurred in 9% of patients. Only 3% of patients discontinued belantamab mafodotin because of side effects. This real‐life study demonstrated significant and durable responses of belantamab in TCR‐MM patients with four prior LOTs, otherwise ineligible for novel immunotherapies.

Nowadays, oilseed cakes are the by-products of oil extraction, have gained significant interest due to their wide range of nutritional, functional, and medicinal properties. The review paper is an overview of the applications of oilseed cakes across due to their nutritional and economic potential. Oilseed cakes present a valuable resource due to rich nutritional profile and potential health advantages. These by-products of oil extraction are not only abundant in proteins, fibres, and essential micronutrients but also possess functional and medicinal properties that can enhance food security and promote overall health. Their utilization in food systems support sustainable agricultural practices, waste reduction, and the development of functional foods, thereby contributing to better health outcomes and a holistic approach to wellbeing aligning with broader sustainable development goals. Overall, this paper underscores the importance of diligent exploration into the multifaceted properties of oilseed cakes, offering valuable insights into their potential applications and avenues for further research and development.

Solitary primary extraosseous plasmacytoma is a rare disease in the gastrointestinal tract, recently classified as an “exceptional” tumor of the colon site. The real incidence (one case/population/year) is unknown but reasonably less than 1/10,000,000 cases/year with very few descriptions in the literature. The rare cases described in the literature are often diagnosed after surgery for perforation and with predominant localization of the left colon. The main endoscopic presentation mimics colon carcinoma with ulcerated mass and obstructing lumen. In this paper, we report a rare case of isolated mass mimicking a submucosal lesion of the ascending colon diagnosed in an older female patient by colonoscopy. The patient was almost asymptomatic; she reported only a history of hematochezia without anemia. This mass was successfully treated by surgery and followed by hematological investigations, including bone marrow biopsy, specific laboratory tests, and CT/PET scan, which confirmed primary isolated plasmacytoma of the colon.

Wheezing is a common condition in childhood, and its prevalence has increased in the last decade. Up to one-third of preschoolers develop recurrent wheezing, significantly impacting their quality of life and healthcare resources. Artificial Intelligence (AI) technologies have recently been applied in paediatric allergology and pulmonology, contributing to disease recognition, risk stratification, and decision support. Additionally, the COVID-19 pandemic has shaped healthcare systems, resulting in an increased workload and the necessity to reduce access to hospital facilities. In this view, AI and Machine Learning (ML) approaches can help address current issues in managing preschool wheezing, from its recognition with AI-augmented stethoscopes and monitoring with smartphone applications, aiming to improve parent-led/self-management and reducing economic and social costs. Moreover, in the last decade, ML algorithms have been applied in wheezing phenotyping, also contributing to identifying specific genes, and have been proven to even predict asthma in preschoolers. This minireview aims to update our knowledge on recent advancements of AI applications in childhood wheezing, summarizing and discussing the current evidence in recognition, diagnosis, phenotyping, and asthma prediction, with an overview of home monitoring and tele-management.

Systemic light-chain (AL) amyloidosis is a monoclonal plasma cell disease characterized by the deposition of amyloidogenic monoclonal light-chain fragments in organs, causing their dysfunction. Clinical manifestations could be very aspecific, but the most frequent ones are proteinuria with or without renal failure or heart failure, with the kidney and the heart being the first two involved organs. Histological diagnosis with Congo red staining is the gold standard, but typing the amyloid with immunohistochemistry or mass spectrometry of the Congo red positive tissue is necessary to establish if an AL or ATTR amyloidosis could be diagnosed. Staging AL amyloidosis before treatment could help physicians to prognosticate the disease. Recently, staging systems were set separately for different involved organs, using biomarkers. Autologous stem cell transplant after a daratumumab-based induction treatment is the cornerstone of therapy in younger and fit patients, with the goal of reaching a deep and rapid disease hematological and organ response. Novel therapies, borrowed from a therapeutical model of multiple myeloma, are studied to optimize AL amyloidosis outcomes. In this review, we make an overview of diagnostic procedures, staging system, and therapies of AL amyloidosis.

Summary: Background: Neuroimaging studies often quantify tau burden in standardized brain regions to assess Alzheimer disease (AD) progression. However, this method ignores another key biological process in which tau spreads to additional brain regions. We have developed a metric for calculating the extent tau pathology has spread throughout the brain and evaluate the relationship between this metric and tau burden across early stages of AD. Methods: 445 cross-sectional participants (aged ≥ 50) who had MRI, amyloid PET, tau PET, and clinical testing were separated into disease-stage groups based on amyloid positivity and cognitive status (older cognitively normal control, preclinical AD, and symptomatic AD). Tau burden and tau spatial spread were calculated for all participants. Findings: We found both tau metrics significantly elevated across increasing disease stages (p

Introdução: O eritema nodoso é uma doença rara cuja fisiopatologia assenta numa resposta de hipersensibilidade tardia do tipo 4 e o seu modo de apresentação mais comum é sob a forma de nódulos e placas cutâneas bilaterais e simétricas, afetando predominantemente a região pré-tibial. Apesar da etiologia idiopática ainda ser bastante frequente, perto de metade dos casos são de etiologia secundária, estando os anticoncecionais orais entre os fármacos mais associados a esta entidade e sendo descrita esta relação causal para um número crescente de associações estroprogestativas. Descreve-se um caso raro de eritema nodoso secundário à associação de etinilestradiol 0,03mg + levonorgestrel 0,15mg. Descrição do caso: Relata-se o caso de uma mulher de 20 anos, que desenvolveu nódulos dolorosos na região pré-tibial do membro inferior direito, relacionando com o início da toma da associação de etinilestradiol 0,03mg e levonorgestrel 0,15mg. A utente descreve as lesões como sendo já crónicas, embora nunca tenha procurado cuidados médicos no passado. Após investigação mais aprofundada da história clínica e suspeição da relação causal entre o fármaco e o aparecimento das lesões compatíveis com um eritema nodoso optou-se por suspender o mesmo e iniciar prednisolona 20mg/dia, tendo a utente evoluído no sentido da resolução clínica. Após discussão das opções terapêuticas existentes, a utente optou pela colocação de ImplanonÒ. Conclusão: Na literatura é cada vez mais relatada a relação causal entre a toma de contracetivos orais, não só do tipo combinado como também do tipo isolado, e o aparecimento de eritema nodoso. Esta relação é rara e complexa. Perante um quadro de nódulos dolorosos dever-se-á considerar a hipótese de se tratar de um caso de eritema nodoso, estando atentos a potenciais triggers – caso dos contracetivos orais combinados. Nestes casos dever-se-á explicar à utente quais as suas opções, não sendo a suspensão terapêutica o único caminho a seguir.

The food control of tropane and pyrrolizidine alkaloids has become in recent years in Europe one of the main priorities within the food safety field due to the exponential increase in food alerts related to the concerning levels of these natural toxins in foods. This awareness has led to increasing progress in the research and determination of these compounds. Hence, this mini-review provides a brief and comprehensive overview of the evolution of these food alerts, highlighting the main food products frequently contaminated with these alkaloids and reviewing the analytical advances in their determination within the las 3 years (from 2020 to 2023).

The Water Quality Index (WQI) was used to evaluate the ecological health and status of Owalla Reservoir and the implications on fish species distribution and biological diversity of the reservoir. Water quality and fish species were collected from three sampling zones (A, B, and C) from September 2019 to August 2020 and biological diversity indices such as dominance, Shannon-Weiner, Evenness, Brillouin, Menhinick, Margalef, Equitability, and Fishers index were calculated. The mean values measured for the temperature (25.9 ± 0.48 oC), dissolved oxygen (4.14 ± 0.10 mg/L), pH (7.0 ± 0.01), and nitrate (0.68 ± 0.25 mg/L) of Owalla Reservoir were within the recommended range; while ammonia (0.13 ± 0.20 mg/L), nitrite (0.14 ± 0.21 mg/L) were high and above the recommended limits. The WQI was highest in zone A (155.97) with an overall index value of 152.73 for the reservoir. Zone A recorded the highest relative fish abundance (49.95%) and was more diversified than other sampling zones. In terms of fish biodiversity indices, zone A had the highest richness (9), number of individuals (136), Shannon (1.84), and Brillouin (1.62) index values. Zones B and C were highest in terms of Dominance (1.0), and Evenness (1.0). Zones A and C were highest in terms of Simpson (0.83); zone B was highest in terms of Menhinick (1.58), and Fisher_alpha index (3.98) while zone C was highest in terms of Margalef (2.0), and Equitability (0.99) indices. The elevated levels of WQI, ammonia, and nitrite pose a danger to fish species and watershed systems. It is important to maintain the quality of water within Owalla Reservoir by ensuring best human practices and averting inappropriate human wastes as well as sewage disposal and agricultural activities. These should be checked for the sustainability of fish species.

ABSTRACTCyanobacteria capable of oxygenic photosynthesis uses multiple pigments to efficiently convert light radiation energy to chemical energy in the form of ATP (Adenosine Tri-phosphate). A crucial pigment protein from its photosynthetic machinery called phycocyanin has been extensively studied for its immense application in fluorescent probe, food additives, nutraceutical applications, and silver-nanoparticles production. The present review provides a narrative amalgamation of the said applications and technologies to grow, extract, and purify the phycocyanin from various algal cultures. The expression of phycocyanin protein gene at the molecular level has been discussed for its potential to enhance the yield and stability. Furthermore, advantageous methods for the extraction and purification of phycocyanin from possible host cyanobacterial strains (Spirulina platensis, Cyanidium caldarium, Synechococcus vulcanus, Gracilaria chilensis, Polysiphonia urceolata, Thermosynechcoccus vulcanus, and Galdieria sulphuraria) such as physical, chemical and enzymatic methods are also compared to find the most efficient strategy in subsequent scientific applications. The comparative study also expects to ways to achieve sustainable development goal 3 i.e. good health & wellbeing.

This work focuses on the development of a hybrid material based on SBA-15 silica with a molecularly imprinted polymer (MIP), using spiramycin (SPI) as a template, for use as sorbent in solid-phase extraction (SPE). Characterization techniques such as nitrogen gas adsorption–desorption isotherms, infrared spectroscopy and scanning electron microscopy confirmed the structure and properties of the SBA-15@MIP-SPI material. SPE conditions using SBA-15@MIP-SPI as sorbent were optimized, which allowed us to demonstrate the high selectivity and adsorption capacity of SPI on the synthesized material. The best conditions were 50 mg of sorbent, loading with 1 mL of standard solution or sample of cow milk previously extracted in acetonitrile and eluting with 3 mL of methanol with 1% acetic acid. After the optimization process, the material demonstrated recovery percentages of 81 ± 3% in SPI standard solutions and showed its potential in cow milk samples (71 ± 6%). The novelty of the research consists of the combination of MIPs with SBA-15, which could offer important advantages in terms of specific surface area and porous structure, thus improving performance and reducing the amount of sorbent compared to other traditional methods.

This manuscript reviews two decades of projects funded by the Kirkhouse Trust (KT), a charity registered in the UK. KT was established to improve the productivity of legume crops important in African countries and in India. KT’s requirements for support are: (1) the research must be conducted by national scientists in their home institution, either a publicly funded agricultural research institute or a university; (2) the projects need to include a molecular biology component, which to date has mostly comprised the use of molecular markers for the selection of one or more target traits in a crop improvement programme; (3) the projects funded are included in consortia, to foster the creation of scientific communities and the sharing of knowledge and breeding resources. This account relates to the key achievements and challenges, reflects on the lessons learned and outlines future research priorities.

ABSTRACTPeople usually waste or discard the numerous benefits of banana peel due to a lack of awareness. Banana peel is a rich source of many bioactive compounds like carotenoids, biogenic amines, polyphenols, phytosterols, and antioxidants. It also contains minerals like iron, calcium, sodium, phosphorus, magnesium, and good levels of dietary fiber. The use of antioxidants present in banana peels can help reduce the risk of diseases like cancer. Antioxidants play a crucial role in the removal of toxins from the human body. One complete banana comprises about 30–40% peel, and the rest is the pulp portion. Banana peels are used in a wide range of industries like cosmetics, medicine, food processing, beverages, textiles, energy resources, paper manufacture, bio-absorbents, biofuel production, and the agricultural sector. An epic transformation in different industrial sectors can be seen because of the versatile nature of banana peel. In agricultural sectors, banana peel can be used as fertilizer to enhance the soil's physical properties, crop quality, and yield due to potassium. Even fiber-rich banana peels can be used to treat constipation problems. Banana peel carries anti-inflammatory properties that can be used in daily life as a first-aid at home to control, reduce, and cure inflammation and infections. Banana is commonly available in our homes, and thus it can be known as a zero-budget organic cosmetic product. Industrial products like paper, fiber, and textiles can be manufactured from banana peels.

The objective of the present study is to evaluate the psychometric properties of the Scale of Attitudes toward Gender Equality in Football in the Context of Schools (SAGEFS) in the international context. This sample was formed by N = 6,101 students. The study was conducted by applying the SAGEFS. The model of the three factors correlated in the complete sample and for each country was correlated using AFC. The structural model was appraised by employing eight indices: the relative Chi-squared index; the goodness of fit index and its adjusted formula; the normal fit index; the comparative fit index; the standardized Quadratic Mean; and the Quadratic Mean Error of Approximation. To conclude, the results evidence the presence of psychometric properties that are indispensable for the measurement of attitudes toward gender equality in the context of schools.

Whey, a component of milk and a useful by-product of the dairy industry’s casein and cheese-making, has been used for generations to augment animal feed. It contains a range of proteins, including α-lactalbumin, β-lactoglobulin, bovine serum albumin, heavy and light chain immunoglobulins, lactoferrin, glycomacropeptide, and lactoperoxidase. Whey proteins exhibit great potential as biopolymers for creating bioactive delivery systems owing to their distinct health-enhancing characteristics and the presence of numerous amino acid groups within their structures. Whey has considerable factors such as antitumor, anti-inflammatory, antihypertensive, hypolipidemic, antiviral, and antibacterial properties in addition to chelating. The global market of whey protein stood at USD 5.33 billion in 2021, with a projected compound annual growth rate of 10.48% spanning the interval from 2022 to 2030. The escalating demand for whey protein is intrinsically linked to the amplifying consciousness surrounding healthy lifestyles. Notably, protein supplements are recurrently endorsed by fitness and sports establishments, thereby accentuating the focal point of customers toward whey protein. This review focuses on nutritional composition, whey bioactives, and their bioavailability with potential health benefits.

Culinary aromatic herbs (CAHs), used worldwide for culinary and industrial purposes, are recognized for their wide range of beneficial health effects including antimicrobial, antioxidant, anti-hyperlipidemic, anti-inflammatory, anti-type 2 diabetes mellitus, antitumorigenic and anticarcinogenic, and anti-hypertensive properties, in addition to glucose- and cholesterol-lowering activities as well as properties that affect mental health and cognition via their phytochemical constituents, such as polyphenols (flavonoids and non-flavonoids), sulfur- and nitrogen-containing compounds, alkaloids, minerals, and vitamins. Moreover, the volatile organic metabolites (VOMs) found in CAHs offer unique analytical biosignatures linked to their sensory qualities and organoleptic characteristics. This study aimed to establish the volatilomic pattern of CAHs commonly used in Europe and in the Mediterranean region, oregano (Origanum vulgare L.) and two savory species: savory (Satureja hortensis L.) and lemon savory (Satureja montana L. var. citriodora). The volatilomic pattern of CAHs was established using headspace solid-phase microextraction (HS-SPME) followed by gas chromatography–mass spectrometry (GC-MS) determination. This is a powerful strategy to unravel the potential health benefits related to the most important VOMs identified in each aromatic herb. This comprehensive understanding will aid in establishing the authenticity of these herbs, while also safeguarding against possible fraudulent activities and adulterations. A total of 112 VOMs from different chemical families were identified. Terpenoids amounted to the major chemical family in the investigated aromatic herbs accounting for 96.0, 95.1, and 79.7% of the total volatile composition for savory, lemon savory, and oregano, respectively. Apart from contributing to flavor profiles, certain identified VOMs also possess bioactive properties, opening interesting avenues for potential application in the food, pharmaceutical, and cosmetic sectors. The volatilomic pattern combined with unsupervised principal component analysis facilitated the differentiation of the aromatic herbs under investigation, revealing the most related VOMs in each sample, which can be used as markers for the authentication of these valuable aromatic herbs, such as caryophyllene oxide (103), camphene (6), p-cymene (23), and borneol (74), among others. In addition, some VOMs have a high influence on the aromatic herb’s bioactive potential, helping to prevent certain diseases including cancer, inflammatory-related diseases, diabetes, and cardiovascular diseases.

A miniaturized solid-phase extraction of two tropane alkaloids (TAs) and twenty-one pyrrolizidine alkaloids (PAs) from infusions of dry edible flowers using optimized µSPEed® technique was developed. The optimization of the µSPEed® methodology involved testing different cartridges and comparing various volumes and numbers of loading cycles. The final conditions allowed for a rapid extraction, taking only 3.5 min. This was achieved using a C18-ODS cartridge, conditioning with 100 µL of methanol (two cycles), loading 100 µL of the infusion sample (seven cycles), and eluting the analytes with 100 µL of methanol (two cycles). Prior to their analysis by UHPLC-IT-MS/MS, the extracts were evaporated and reconstituted in 100 µL of water (0.2% formic acid)/methanol (0.2% ammonia) 95:5 (v/v), allowing for a preconcentration factor of seven times. The methodology was successfully validated obtaining recoveries ranging between 87 and 97%, RSD of less than 12%, and MQL between 0.09 and 0.2 µg/L. The validated methodology was applied to twenty samples of edible flower infusions to evaluate the safety of these products. Two infusion samples obtained from Acmella oleracea and Viola tricolor were contaminated with 0.16 and 0.2 µg/L of scopolamine (TA), respectively, while the infusion of Citrus aurantium was contaminated with intermedine and lycopsamine (PAs) below the MQL.

This work aimed to develop high-quality gluten-free bread based on maize and buckwheat with good palatability and texture properties. Different aromatic herbs and spices were incorporated as ingredients to evaluate whether their addition could influence the acceptability of consumers by improving the sensory properties of the final product. The bread formulation was first optimized through a response surface methodology. Accordingly, high specific volume, high springiness, and low hardness provided the best theoretical bread quality. However, when developing the product, some sensory defects were detected. Therefore, the addition of other ingredients (e.g., oil, sugar, and yeast) was tested. Finally, five different gluten-free bread with different combinations of aromatic herbs and spices were obtained. They were nutritionally characterized and subjected to sensory analysis by a panel of 140 consumers. The chemical composition of all bread was very similar, with only slight differences among them. Likewise, all of them received acceptable sensory scores (>5) from consumers, and some combinations of herbs and spices obtained scores higher than in the control bread (without herbs and spices). Overall, the gluten-free bread formulated with the combination of basil and oregano was the one that consumers significantly liked the most.

Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical manifestations include a nonspecific set of gastrointestinal, neuropsychiatric, and/or cutaneous symptoms. Effective diagnostic methods are widely available, but due to their clinical heterogeneity and non-specificity, many years often elapse from symptom onset to diagnosis of acute porphyrias, delaying the treatment and increasing morbidity. Therefore, increased awareness of acute porphyrias among healthcare professionals is paramount to reducing disease burden. Treatment of acute porphyrias is centered on eliminating the potential precipitants, symptomatic treatment, and suppressing the hepatic heme pathway, through the administration of hemin or givosiran. Moreover, properly monitoring patients with acute porphyrias and their relatives is fundamental to preventing acute attacks, hospitalization, and long-term complications. Considering this, a multidisciplinary panel elaborated a consensus paper, aiming to provide guidance for an efficient and timely diagnosis of acute porphyrias, and evidence-based recommendations for treating and monitoring patients and their families in Portugal. To this end, all authors exhaustively reviewed and discussed the current scientific evidence on acute porphyrias available in the literature, between November 2022 and May 2023.

Eosinophils are bone marrow-derived granulocytes that, under homeostatic conditions, account for as much as 1-3% of peripheral blood leukocytes. During inflammation, eosinophils can rapidly expand and infiltrate inflamed tissues, guided by cytokines and alarmins (such as IL-33), adhesion molecules and chemokines. Eosinophils play a prominent role in allergic asthma and parasitic infections. Nonetheless, they participate in the immune response against respiratory viruses such as respiratory syncytial virus and influenza. Notably, respiratory viruses are associated with asthma exacerbation. Eosinophils release several molecules endowed with antiviral activity, including cationic proteins, RNases and reactive oxygen and nitrogen species. On the other hand, eosinophils release several cytokines involved in homeostasis maintenance and Th2-related inflammation. In the context of SARS-CoV-2 infection, emerging evidence indicates that eosinophils can represent possible blood-based biomarkers for diagnosis, prognosis, and severity prediction of disease. In particular, eosinopenia seems to be an indicator of severity among patients with COVID-19, whereas an increased eosinophil count is associated with a better prognosis, including a lower incidence of complications and mortality. In the present review, we provide an overview of the role and plasticity of eosinophils focusing on various respiratory viral infections and in the context of viral and allergic disease comorbidities. We will discuss the potential utility of eosinophils as prognostic/predictive immune biomarkers in emerging respiratory viral diseases, particularly COVID-19. Finally, we will revisit some of the relevant methods and tools that have contributed to the advances in the dissection of various eosinophil subsets in different pathological settings for future biomarker definition.

El aprendizaje-servicio (ApS) se ha integrado en los procesos enseñanza-aprendizaje a todos los niveles. Su aplicación, acercándose a la realidad sin tamices, contrasta con lo equidistante de una educación neutra, al margen de toda ideología. No obstante, este oxímoron conlleva un aprendizaje limitante para repensar nuestras creencias personales, que son a su vez las carencias sociales de nuestro tiempo. Particularmente, cuando la innovación se promueve con aprendizaje-servicio y enfoque geográfico se posibilita que desde lo local se reconozca la perversidad manifiesta en la globalización. Este es el objetivo del proyecto de sensibilización desarrollado: reformular el sentido de la educación. ¿El servicio? Dar voz a quién se le oprime. Sin necesidad de eludir el currículo establecido, a través del método epistémico, o método humano, queda demostrado el potencial de la escuela para sensibilizar sobre problemáticas sociales, actuando en este caso desde el entorno más inmediato en la opinión pública, a nivel comunitario y social, en concreto, sobre la cuestión migratoria.

The synthesis of gold(III) and gold(I)–gold(III) complexes with phosphide bridges is still a matter that requires solutions for their marked instability, in spite of the affinity of this metal in both oxidation states for phosphorous donor ligands. In the course of our studies, we realized that the presence of perhalophenyl groups of the type pentafluorophenyl or 3,5-dichlorotrifluorophenyl in the complexes gives rise to an increase in their stability that eases their isolation and structural characterization. In this paper, we describe two new fully characterized neutral compounds of this type to extend the knowledge on this family of compounds, [{Au(C6Cl2F3)2}2(µ-PPh2)2] (1) and [{Au(C6Cl2F3)2(µ-PPh2)2Au}2] (2). In this work, we analyze the role of the perhalophenyl groups in the stability of these complexes by using quantum chemical topology methodologies, specifically employing an analysis of the non-covalent interactions (NCIs) in real space and evaluating the electrostatic potential surfaces (ESP). Our findings reveal the existence of appreciable π-stacking interactions among the perhalophenyl and phenyl groups in both compounds, significantly contributing to the stability of the systems.

α-Solanine and α-chaconine are the two most predominant glycoalkaloids (GAs) present in potato. Potato peel contains a high concentration of GAs, which are especially interesting for application in the pharmaceutical industry due to their different beneficial properties (such as anticarcinogenic, anti-inflammatory, antiallergic, antipyretic, antiviral, fungicide, and antibiotic activities, among others); so, potato peel waste can be valorized by extracting these biologically active compounds. For this, a green, quick, and efficient miniaturized analytical approach based on ultrasound-assisted extraction (UAE) combined with HPLC-DAD was developed to quantify α-solanine and α-chaconine in potato peel. Some parameters of the extraction were optimized, including the extraction method, the type of solvent, and the sample/solvent ratio, by a three-factor, three-level (33) full factorial experimental design. The optimal extraction conditions were obtained with UAE using methanol as a solvent and a sample/solvent ratio of 1:10 (w/v, g/mL). The analytical greenness metric for sample preparation (AGREEprep) tool was used to assess the greenness of the methods used. The tool revealed an acceptable green analysis, with 0.61 points. The method was validated and applied to the evaluation of GAs in the peel of 15 commercial varieties of potato. The amount of glycoalkaloids found in the samples evaluated ranged from 143 to 1273 mg/kg and from 117 to 1742 mg/kg dry weight for α-solanine and α-chaconine, respectively. These results reveal the important variability that exists between potato varieties; so, their analysis is of great importance to select the most suitable ones for biovalorization (e.g., the Amandine and Rudolph varieties, with around 3000 mg/kg, in total, of both GAs). To provide higher stability to the peel during storage, freeze-drying or a medium-temperature drying process resulted preferable to avoid GA degradation. Overall, this study will contribute to the expansion of the future biovalorization of potato peel waste as well as provide a powerful analytical tool for GA analysis.

Asthma is a disease that has been described since the times of Hammurabi. However, it is only since the 1960s that effective therapeutic strategies have been available. Pathogenic mechanisms underlying the disease have been deeply studied, contributing to creating a “patient-specific asthma” definition. Biological drugs have been approved over the last twenty years, improving disease management in patients with severe asthma via a “precision medicine-driven approach”. This article aims to describe the evolution of scientific knowledge in childhood asthma, focusing on the most recent biological therapies and their indications for patients with severe asthma.

Abstract Introduction A major challenge to enabling precision health at a global scale is the bias between those who enroll in state sponsored genomic research and those suffering from chronic disease. More than 30 million people have been genotyped by direct-to-consumer (DTC) companies such as 23andMe, Ancestry DNA, and MyHeritage, providing a potential mechanism for democratizing access to medical interventions and thus catalyzing improvements in patient outcomes as the cost of data acquisition drops. However, much of these data are sequestered in the initial provider network, without the ability for the scientific community to either access or validate. Here, we present a novel geno-pheno platform that integrates heterogeneous data sources and applies learnings to common chronic disease conditions including Type 2 diabetes (T2D) and hypertension. Methods We collected genotyped data from a novel DTC platform where participants upload their genotype data files and were invited to answer general health questionnaires regarding cardiometabolic traits over a period of 6 months. Quality control, imputation, and genome-wide association studies were performed on this dataset, and polygenic risk scores were built in a case–control setting using the BASIL algorithm. Results We collected data on N = 4,550 (389 cases / 4,161 controls) who reported being affected or previously affected for T2D and N = 4,528 (1,027 cases / 3,501 controls) for hypertension. We identified 164 out of 272 variants showing identical effect direction to previously reported genome-significant findings in Europeans. Performance metric of the PRS models was AUC = 0.68, which is comparable to previously published PRS models obtained with larger datasets including clinical biomarkers. Discussion DTC platforms have the potential of inverting research models of genome sequencing and phenotypic data acquisition. Quality control (QC) mechanisms proved to successfully enable traditional GWAS and PRS analyses. The direct participation of individuals has shown the potential to generate rich datasets enabling the creation of PRS cardiometabolic models. More importantly, federated learning of PRS from reuse of DTC data provides a mechanism for scaling precision health care delivery beyond the small number of countries who can afford to finance these efforts directly. Conclusions The genetics of T2D and hypertension have been studied extensively in controlled datasets, and various polygenic risk scores (PRS) have been developed. We developed predictive tools for both phenotypes trained with heterogeneous genotypic and phenotypic data generated outside of the clinical environment and show that our methods can recapitulate prior findings with fidelity. From these observations, we conclude that it is possible to leverage DTC genetic repositories to identify individuals at risk of debilitating diseases based on their unique genetic landscape so that informed, timely clinical interventions can be incorporated.

There is a genetic component to the risk of severe COVID-19, but the genetic effects are difficult to separate from social constructs that covary with genetic ancestry. To address this, the authors identify determinants of COVID-19 severity using admixture mapping, viral phylodynamics, and host immune and metagenomic sequencing.

Sample preparation methods tend to be fast, simple, with the use of new adsorbents and with lower amounts of organic solvents to make them more environmentally friendly. In this work, a magnetic solid-phase extraction (MSPE) protocol for the quantification of six opium alkaloids (OAs) in poppy seeds infusions has been optimised followed by analysis with liquid chromatography coupled to tandem mass spectrometry (HPLC-MS/MS). For this purpose, a mesostructured silica magnetic composite with β-CD (Fe3O4@SiO2@mSiO2@β-CD) was synthesised and characterized. To obtain the highest level of functionalisation, three proportions of β-CD monomer/material (12.5, 25 and 100%) were determined, demonstrating that 25% showed the highest level. Adsorption studies were carried out in water at different pH (1, 2, 7, 9 and 11) and times (1, 5, 10 and 20 min), confirming the high adsorption capacity at pH 9 for 1 min. Then, the elution conditions of MSPE procedure were optimised (50 mg material, 2 mL of water/EtOH at 50% with 1% formic acid for 1 min). The methodology was successful validated with low detection and quantification limits, negligible matrix effect and good recovery values (89–94%). The methodology was applied to analysis of home-made infusions with four different poppy seeds, observing in one of them a worrying amount of OAs which imply a content in the seeds of at least four times that of the legislation.

The literary field is a cultural form, an individualized system of practices, characterized by its attributes and the structure that it assumes. Inside the form, the actors formulate discourses about their practices, from which emerge both a set of rules that regulate practices and a structure. Structure, norm, and practitioners compete to give shape to the form. From the different understandings of what belongs (or not) to the literary domain and some (r)evolutions in the field, this article defines the elements of a cultural form and gives an account of its dynamics that, throughout time, explains the fact that some rules may be reformulated and new bearers to be introduced, with the cultural form undergoing some restructuration without losing its identity.

This study evaluated a pharmacist-led telephonic Medication Therapy Management (MTM) program for rural patients in Arizona with poor access to healthcare services. A pharmacist provided telephonic MTM services to eligible adult patients living in rural Arizona communities with a diagnosis of diabetes and/or hypertension. Data were collected and summarized descriptively for demographic and health conditions, clinical values, and medication-related problems (MRPs) at the initial consultation, and follow-up data collected at 1 and 3 months. A total of 33 patients had baseline and one-month follow-up data, while 15 patients also had three-month follow-up data. At the initial consultation, the following MRPs were identified: medication adherence issues, dose-related concerns, adverse drug events (ADE), high-risk medications, and therapeutic duplications. Recommendations were made for patients to have the influenza, herpes zoster, and pneumonia vaccines; and to initiate a statin, angiotensin converting enzyme inhibitor, angiotensin receptor blocker, beta-blocker, and/or rescue inhaler. In conclusion, this study demonstrated that while pharmacists can identify and make clinical recommendations to patients, the value of these interventions is not fully realized due to recommendations not being implemented and difficulties with patient follow-up, which may have been due to the COVID-19 pandemic. Additional efforts to address these shortcomings are therefore required.

An analysis methodology was optimised and validated for the quantification of opium alkaloids (OAs) in ground poppy seeds. This involved ultrasound-assisted extraction (UAE) and solid-phase extraction (SPE) purification before analysis using a high-performance liquid chromatography mass spectrometry detector (HPLC-MS/MS). UAE was optimised through the design of experiments with three factors and a three-level full factorial design. For SPE optimisation, a commercial material was compared with a previously synthesised material of SBA-15 silica functionalised with sulfonic groups (SBA-15-SO3−). The synthesised material demonstrated superior efficiency with only 25 mg and proved to be reusable for up to four cycles. The methodology was properly validated in terms of linearity, limits of detection and quantification, and selectivity. Matrix effects were negligible; adequate recovery values (85–100%) and inter-day and intra-day precision (≤15%) were obtained. The greenness of the method was evaluated with the AGREEprep metric scale, being more environmentally friendly compared to OA analysis methods. Finally, the method was applied to different samples of ground poppy seeds and revealed a concentration of 140 mg/kg of morphine equivalents in one of the samples, surpassing the legislatively established limits by sevenfold. This highlights the need to analyse these types of samples to mitigate potential public health issues.

In multiple myeloma impressive outcomes have improved with the introduction of new therapeutic approaches, mainly those including naked monoclonal antibodies such as daratumumab and isatuximab. However, moving to earlier lines of therapy with effective anti-myeloma drugs led to an increase in the number of patients who developed multi-refractoriness to them early on. Currently, triple- or multi-refractory MM represents an unmet medical need, and their management remains a complicated challenge. The recent approval of new immunotherapeutic approaches such as conjugated monoclonal antibodies, bispecific antibodies, and CAR T cells could be a turning point for these heavily pretreated patients. Nevertheless, several issues regarding their use are unsolved, such as how to select patients for each strategy or how to sequence these therapies within the MM therapeutic landscape. Here we provide an overview of the most recent data about approved conjugated monoclonal antibody belantamab, mafodotin, bispecific antibody teclistamab, and other promising compounds under development, mainly focusing on the ongoing clinical trials with monoclonal antibody combination approaches in advanced and earlier phases of MM treatment.

Abstract Background The Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native Americans, Spanish invaders, and enslaved Africans, all of whom passed through a population bottleneck due to widespread infectious diseases that left small isolated local settlements. As a result, the current population reflects multiple founder effects derived from diverse ancestries. Methods We characterized the role of admixture and founder effects on the origination of the mutational landscape that led to neurodegenerative disorders under these historical circumstances. Genomes from 900 Colombian individuals with Alzheimer’s disease (AD) [n = 376], frontotemporal lobar degeneration-motor neuron disease continuum (FTLD-MND) [n = 197], early-onset dementia not otherwise specified (EOD) [n = 73], and healthy participants [n = 254] were analyzed. We examined their global and local ancestry proportions and screened this cohort for deleterious variants in disease-causing and risk-conferring genes. Results We identified 21 pathogenic variants in AD-FTLD related genes, and PSEN1 harbored the majority (11 pathogenic variants). Variants were identified from all three continental ancestries. TREM2 heterozygous and homozygous variants were the most common among AD risk genes (102 carriers), a point of interest because the disease risk conferred by these variants differed according to ancestry. Several gene variants that have a known association with MND in European populations had FTLD phenotypes on a Native American haplotype. Consistent with founder effects, identity by descent among carriers of the same variant was frequent. Conclusions Colombian demography with multiple mini-bottlenecks probably enhanced the detection of founder events and left a proportionally higher frequency of rare variants derived from the ancestral populations. These findings demonstrate the role of genomically defined ancestry in phenotypic disease expression, a phenotypic range of different rare mutations in the same gene, and further emphasize the importance of inclusiveness in genetic studies.