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1.
J Clin Immunol ; 44(5): 119, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38758228

RESUMO

OBJECTIVES: The study is aimed to evaluate the impact of safety events in the Eurofever registry for Autoinflammatory diseases. METHODS: This was a retrospective and longitudinal observational multicentre study. Data were retrieved from the international registry Eurofever, starting patients' enrolment since 2009. All moderate, severe, or very severe AEs reported by treating physician in Eurofever were analyzed regardless of a possible suspected causal relationship to any therapies and according to the latest release of the Medical Dictionary for Regulatory Activities. RESULTS: Complete information on safety were available in 2464 patients enrolled in the registry. In 1499 of them retrospective data encompassing the period from disease onset to enrolment were available, whereas 965 consecutive patients entered in the longitudinal part of the study. A total of 479 AEs have been reported in 275 patients. Eighty-two AEs were reported as serious and 99 were drug-related according to the physicians. Infections or infestations (94; 19.6%), gastrointestinal disorders (66; 13.8%), nervous system disorders (41; 8.6%) and systemic disorders or administration site reactions (35; 7.3%) were the most frequent reported events. The highest absolute number of drug-related AEs were related to biologic DMARDs (40/99 reports, 40,4%) and colchicine (31/99 reports, 31.3%). CONCLUSIONS: Present study shows the importance of a longitudinal and homogeneous registration of the AEs in rare conditions, with a particular focus on the safety profile of the treatments used in these conditions.


Assuntos
Sistema de Registros , Humanos , Feminino , Masculino , Adulto , Estudos Retrospectivos , Adolescente , Estudos Longitudinais , Adulto Jovem , Pessoa de Meia-Idade , Criança , Pré-Escolar , Idoso , Doenças Hereditárias Autoinflamatórias/epidemiologia , Lactente , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Europa (Continente)/epidemiologia , Sistemas de Notificação de Reações Adversas a Medicamentos/estatística & dados numéricos
2.
J Food Sci ; 89(5): 2974-2990, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38711372

RESUMO

The plant-based meat alternative market is experiencing rapid growth. However, whether this growth extends to mainstream consumers will depend on the sensory profile, emotional profile, and situational appropriateness of these products. This study provides a sensory comparison between two plant-based burgers, one hybrid burger, and a conventional 100% ground beef burger. The sensory evaluation was carried out under blind and informed conditions using a between-subject design. Participants (n = 177) were asked to rate the appearance, flavor, odor, and texture of each product and indicate their overall liking. In addition, 26 sensory terms were evaluated using the rate-all-that-apply technique. The study also measured the emotional profile and the situational appropriateness elicited by each product using the check-all-that-apply technique. The results showed that (a) in the blind condition, there were no significant differences observed in overall liking across the four burgers; (b) the plant-based burger made with pea protein received the lowest overall liking score, and its evaluation was not positively influenced by product information disclosure; (c) providing product information influenced the perceived intensity of the attributes associated with meat; (d) discriminatory ability for emotions was higher in the informed condition; and (e) for the situational appropriateness, when prioritizing healthy eating, participants considered plant-based burgers more suitable than the groundbeef burger. PRACTICAL APPLICATION: Our results demonstrate that product descriptions could have an impact on consumer acceptance of different meat burger alternatives. In order to launch successfull meat alternatives, product developers and communication marketing specialists should consider the extent to which these alternatives resemble regular meat products in terms of their sensory and emotional profiles and context of use.


Assuntos
Comportamento do Consumidor , Emoções , Preferências Alimentares , Produtos da Carne , Paladar , Humanos , Adulto , Masculino , Feminino , Adulto Jovem , Preferências Alimentares/psicologia , Produtos da Carne/análise , Odorantes/análise , Adolescente , Pessoa de Meia-Idade , Animais , Bovinos , Pisum sativum
3.
Neurourol Urodyn ; 43(4): 942-950, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38407345

RESUMO

INTRODUCTION: Despite various studies on the impact of incontinence on patients' lives, the existing literature has not investigated the contribution of nursing care during rehabilitation in terms of quality of life. Fewer data, therefore, exist on the characteristics and perceived impact of the therapeutic relationship as part of the rehabilitation program. AIMS: To investigate the characteristics of the nurse-patient therapeutic relationship and its impact throughout the rehabilitation program; to describe the levels of patient burden on everyday activities. MATERIALS AND METHODS: A monocentric, retrospective, multimethod descriptive study was conducted in the nurse-led continence clinic of a major teaching hospital in Northern Italy. A phenomenological approach with semistructured interviews was adopted after 6 weeks of rehabilitation, following the method of phenomenological enquiry by Giorgi. The short form 12 questionnaire was administered upon admission of patients to the clinic, after 6 weeks, and during the last consultation to investigate the impact of urinary incontinence (UI) on daily activities and physical and psychological quality of life. RESULTS: Ninety-one adult patients of both genders presenting for nonneurogenic nonpostpartum UI were consecutively enrolled. Physical scores (PCS-12) and MCS-12 scores significantly increased over time. Psychological scores showed great variability upon admission, which was reduced halfway through the rehabilitation program. The thematic analysis highlighted four categories based on data saturation: the impact of UI on daily activities, strategies to face the problem, feelings, and the role of nurses. CONCLUSIONS: This mixed-method investigation suggests the importance of therapeutic nursing relationships, clinical expertise, and rehabilitative skills. Quality of life is arguably related to the positive results of the rehabilitation program but also to the environment, patients perceive in terms of support, honesty, and trust.


Assuntos
Qualidade de Vida , Incontinência Urinária , Adulto , Humanos , Masculino , Feminino , Estudos Retrospectivos , Incontinência Urinária/psicologia , Inquéritos e Questionários , Hospitalização
4.
Immunity ; 56(9): 2152-2171.e13, 2023 09 12.
Artigo em Inglês | MEDLINE | ID: mdl-37582369

RESUMO

Microglia phenotypes are highly regulated by the brain environment, but the transcriptional networks that specify the maturation of human microglia are poorly understood. Here, we characterized stage-specific transcriptomes and epigenetic landscapes of fetal and postnatal human microglia and acquired corresponding data in induced pluripotent stem cell (iPSC)-derived microglia, in cerebral organoids, and following engraftment into humanized mice. Parallel development of computational approaches that considered transcription factor (TF) co-occurrence and enhancer activity allowed prediction of shared and state-specific gene regulatory networks associated with fetal and postnatal microglia. Additionally, many features of the human fetal-to-postnatal transition were recapitulated in a time-dependent manner following the engraftment of iPSC cells into humanized mice. These data and accompanying computational approaches will facilitate further efforts to elucidate mechanisms by which human microglia acquire stage- and disease-specific phenotypes.


Assuntos
Células-Tronco Pluripotentes Induzidas , Microglia , Humanos , Camundongos , Animais , Redes Reguladoras de Genes , Encéfalo , Regulação da Expressão Gênica
5.
Pediatr Infect Dis J ; 42(10): e384-e388, 2023 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-37406270

RESUMO

Acute suppurative thyroiditis are infrequent infections, although their early and proper management are needed to reduce complications and recurrences. We review the clinical presentation, etiology, clinical outcome and management of 9 cases of thyroid infections diagnosed in children, and analyze the existence of predisposing factors for these infections.


Assuntos
Tireoidite Supurativa , Humanos , Criança , Tireoidite Supurativa/diagnóstico , Tireoidite Supurativa/terapia , Tireoidite Supurativa/complicações , Diagnóstico Diferencial , Tomada de Decisão Clínica , Doença Aguda
6.
Food Res Int ; 169: 112813, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37254388

RESUMO

The food sector has witnessed a surge in the production of plant-based meat alternatives that aim to mimic various attributes of traditional animal products. However, overall sensory appreciation remains low. This study employed open-ended questions, preference ranking, and an identification question to analyze sensory drivers and barriers to liking four burger patties, i.e., two plant-based (one referred to as pea protein burger and one referred to as animal-like protein burger), one hybrid meat-mushroom, and one 100 % beef burger. Untrained participants (n = 175) were randomly assigned to blind or informed conditions in a between-subject study. The main objective was to evaluate the impact of providing information about the animal/plant-based protein source/type, and to obtain product descriptors and liking/disliking levels from consumers. Results from the ranking tests for blind and informed treatments showed that the animal-like protein was the most preferred product, followed by the 100 % beef burger. Moreover, in the blind condition, there was no significant difference in preferences between the beef burger and the hybrid and pea protein burgers. In the blind tasting, people preferred the pea protein burger over the hybrid one, contrary to the results of the informed tasting, which implies the existence of affecting factors other than pure hedonistic enjoyment. In the identification question, although consumers correctly identified the beef burger under the blind condition, they still preferred the plant-based 'animal-like' burger.


Assuntos
Produtos da Carne , Proteínas de Ervilha , Animais , Bovinos , Carne/análise , Produtos da Carne/análise , Proteínas de Plantas , Plantas , Humanos
7.
J Clin Invest ; 133(6)2023 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-36602862

RESUMO

Mutations in the human progranulin (GRN) gene are a leading cause of frontotemporal lobar degeneration (FTLD). While previous studies implicate aberrant microglial activation as a disease-driving factor in neurodegeneration in the thalamocortical circuit in Grn-/- mice, the exact mechanism for neurodegeneration in FTLD-GRN remains unclear. By performing comparative single-cell transcriptomics in the thalamus and frontal cortex of Grn-/- mice and patients with FTLD-GRN, we have uncovered a highly conserved astroglial pathology characterized by upregulation of gap junction protein GJA1, water channel AQP4, and lipid-binding protein APOE, and downregulation of glutamate transporter SLC1A2 that promoted profound synaptic degeneration across the two species. This astroglial toxicity could be recapitulated in mouse astrocyte-neuron cocultures and by transplanting induced pluripotent stem cell-derived astrocytes to cortical organoids, where progranulin-deficient astrocytes promoted synaptic degeneration, neuronal stress, and TDP-43 proteinopathy. Together, these results reveal a previously unappreciated astroglial pathology as a potential key mechanism in neurodegeneration in FTLD-GRN.


Assuntos
Demência Frontotemporal , Degeneração Lobar Frontotemporal , Humanos , Animais , Camundongos , Progranulinas/genética , Demência Frontotemporal/genética , Astrócitos/metabolismo , Peptídeos e Proteínas de Sinalização Intercelular/genética , Mutação , Degeneração Lobar Frontotemporal/genética , Degeneração Lobar Frontotemporal/metabolismo , Degeneração Lobar Frontotemporal/patologia
8.
Neurourol Urodyn ; 42(3): 631-640, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36701176

RESUMO

BACKGROUND: Neuromodulation (NM) is a family of therapies based on electrical stimulation to target specific nerves that control LUTS (Lower Urinary Tract Symptoms) and pain. The aim is to modulate what is happening within the nervous system to achieve therapeutic effects. A particular type of neuromodulation, called TENS (Transcutaneous Electrical Nerve Stimulation), has proven effective for treating pelvic pain. The available evidence provides indications regarding the many aspects of TENS that influence therapeutic effects, but a comprehensive review has yet to be conducted. METHODS: Scoping review on Pubmed, CINAHL, Embase, Scopus, and Web of Science, including clinical trials, reviews, case studies or series, and other descriptive studies, according to the Joanna Briggs and PRISMA methodology. RESULTS: The 31 papers retrieved allowed the formulation of precise indications about the DOs and DON'Ts of electrode placement, waveform, pulse duration, pulse frequency, amplitude, session duration, and frequency of sessions. This paper also discusses the biochemical and neuro urological mechanisms of TENS. CONCLUSION: TENS effectiveness is influenced by many factors, some self-evident, others subtle, which this paper elucidates. Pelvic pain requires a multimodal approach, of which TENS is just a part. TENS should therefore be viewed as one of the components of the rehabilitation program in the frame of thorough and continuous patient assessment.


Assuntos
Sintomas do Trato Urinário Inferior , Estimulação Elétrica Nervosa Transcutânea , Humanos , Estimulação Elétrica Nervosa Transcutânea/métodos , Dor Pélvica/terapia , Sintomas do Trato Urinário Inferior/terapia , Estimulação Elétrica , Protocolos Clínicos , Revisões Sistemáticas como Assunto
9.
Int J Epidemiol ; 52(2): 386-402, 2023 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-35690959

RESUMO

BACKGROUND: Attention deficit/hyperactivity disorder (ADHD) is a highly prevalent neurodevelopmental disorder caused by a combination of genetic and environmental factors and is often thought as an entry point into a negative life trajectory, including risk for comorbid disorders, poor educational achievement or low income. In the present study, we aimed to clarify the causal relationship between ADHD and a comprehensive range of related traits. METHODS: We used genome-wide association study (GWAS) summary statistics for ADHD (n = 53 293) and 124 traits related to anthropometry, cognitive function and intelligence, early life exposures, education and employment, lifestyle and environment, longevity, neurological, and psychiatric and mental health or personality and psychosocial factors available in the MR-Base database (16 067 ≤n ≤766 345). To investigate their causal relationship with ADHD, we used two-sample Mendelian randomization (MR) with a range of sensitivity analyses, and validated MR findings using causal analysis using summary effect estimates (CAUSE), aiming to avoid potential false-positive results. RESULTS: Our findings strengthen previous evidence of a causal effect of ADHD liability on smoking and major depression, and are consistent with a causal effect on odds of decreased average total household income [odds ratio (OR) = 0.966, 95% credible interval (CrI) = (0.954, 0.979)] and increased lifetime number of sexual partners [OR = 1.023, 95% CrI = (1.013, 1.033)]. We also found evidence for a causal effect on ADHD for liability of arm predicted mass and weight [OR = 1.452, 95% CrI = (1.307, 1.614) and OR = 1.430, 95% CrI = (1.326, 1.539), respectively] and time spent watching television [OR = 1.862, 95% CrI = (1.545, 2.246)], and evidence for a bidirectional effect for age of first sexual intercourse [beta = -0.058, 95% CrI = (-0.072, -0.044) and OR = 0.413, 95% CrI = (0.372, 0.457), respectively], odds of decreased age completed full-time education [OR = 0.972, 95% CrI = (0.962, 0.981) and OR = 0.435, 95% CrI = (0.356, 0.533), respectively] and years of schooling [beta = -0.036, 95% CrI = (-0.048, -0.024) and OR = 0.458, 95% CrI = (0.411, 0.511), respectively]. CONCLUSIONS: Our results may contribute to explain part of the widespread co-occurring traits and comorbid disorders across the lifespan of individuals with ADHD and may open new opportunities for developing preventive strategies for ADHD and for negative ADHD trajectories.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno Depressivo Maior , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/genética , Análise da Randomização Mendeliana/métodos , Estudo de Associação Genômica Ampla , Causalidade
10.
Neurourol Urodyn ; 42(1): 13-22, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36183384

RESUMO

BACKGROUND: Pelvic pain has cognitive, behavioral, sexual, and emotional consequences. Nurses involved in pelvic floor rehabilitation clinics have contacts with patients reporting chronic pain and should know the most appropriate service for patient referral, to submit the problem to professionals capable of correctly assessing and managing the condition. Furthermore, in some countries nurses can use conservative methods to treat the painful symptoms inside a multidisciplinary team such as breathing retraining, biofeedback, and noninvasive neuromodulation. This paper aims to provide an overview of the literature regarding the role of rehabilitation nurses in dealing with patients suffering from chronic urogenital pelvic pain or urogenital painful syndromes, inside a multidisciplinary team. METHODS: Scoping review on Pubmed, CINAHL, Embase, Scopus, Web of Science including trials, reviews, case studies or series, and other descriptive studies regarding the role of nurses inside the multidisciplinary team in the management of males and females presenting chronic pelvic pain (CPP) or chronic pelvic pain syndrome (CPPS). RESULTS: The 36 papers included in this review allowed answering research questions in four areas of nursing: collecting basic information, referring the person to appropriate services, evidence-based nursing interventions for CPP and CPPS, and proper documentation. Clinical history and assessment of breathing pattern, Muscular assessment and research of trigger points are the main points of data collection. Techniques for muscular relaxation and breathing retraining are important aspects of treatment, as well as biofeedback and noninvasive neuromodulation where the law allows nurses to practice such techniques. The McGill pain questionnaire and the pain inventory of the International Pain Society allow systematic data collection and handover. CONCLUSION: Rehabilitation nurses work inside multidisciplinary teams when dealing with persons suffering from pelvic pain; further research is needed as our comprehension of the underlying pathophysiological mechanisms of CPP and CPPS evolve.


Assuntos
Dor Crônica , Papel do Profissional de Enfermagem , Masculino , Feminino , Humanos , Síndrome , Dor Pélvica , Sistema Urogenital
11.
BMC Psychiatry ; 22(1): 665, 2022 10 27.
Artigo em Inglês | MEDLINE | ID: mdl-36303132

RESUMO

BACKGROUND: Bipolar Disorder (BD) is a complex mental disease characterized by recurrent episodes of mania and depression. Lithium (Li) represents the mainstay of BD pharmacotherapy, despite the narrow therapeutic index and the high variability in treatment response. However, although several studies have been conducted, the molecular mechanisms underlying Li therapeutic effects remain unclear. METHODS: In order to identify molecular signatures and biological pathways associated with Li treatment response, we conducted transcriptome and miRNome microarray analyses on lymphoblastoid cell lines (LCLs) from 20 patients diagnosed with BD classified as Li responders (n = 11) or non-responders (n = 9). RESULTS: We found 335 mRNAs and 77 microRNAs (miRNAs) significantly modulated in BD responders versus non-responders. Interestingly, pathway and network analyses on these differentially expressed molecules suggested a modulatory effect of Li on several immune-related functions. Indeed, among the functional molecular nodes, we found NF-κB and TNF. Moreover, networks related to these molecules resulted overall inhibited in BD responder patients, suggesting anti-inflammatory properties of Li. From the integrative analysis between transcriptomics and miRNomics data carried out using miRComb R package on the same samples from patients diagnosed with BD, we found 97 significantly and negatively correlated mRNA-miRNA pairs, mainly involved in inflammatory/immune response. CONCLUSIONS: Our results highlight that Li exerts modulatory effects on immune-related functions and that epigenetic mechanisms, especially miRNAs, can influence the modulation of different genes and pathways involved in Li response. Moreover, our data suggest the potentiality to integrate data coming from different high-throughput approaches as a tool to prioritize genes and pathways.


Assuntos
Transtorno Bipolar , MicroRNAs , Humanos , Lítio/uso terapêutico , Transtorno Bipolar/tratamento farmacológico , Transtorno Bipolar/genética , Transcriptoma , Compostos de Lítio/uso terapêutico , MicroRNAs/genética , MicroRNAs/uso terapêutico , RNA Mensageiro/genética
12.
Br J Nurs ; 31(19): 984-988, 2022 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-36306230

RESUMO

BACKGROUND: Constipation is a common condition. Although numerous articles emphasise the importance of conservative interventions, none have set out a complete educational programme. AIMS: To describe the results of an evidence-based, nurse-led educational intervention for functional constipation in adults. METHODS: A retrospective study of patient records with an analysis of Wexner constipation scores and Bristol stool charts was carried out before and after a nurse-led educational programme on nutrition and bowel habits. FINDINGS: Twenty-nine patients were enrolled (19 women and 10 men), with a median age of 61 (53-71) years, a mean BMI of 24.4±3.88 kg/m2 and comparable baseline Wexner and Bristol scores. A statistically significant improvement in Wexner scores (P<0.001) and a clinically relevant but not statistically significant (P=0.682) improvement in Bristol scores were observed. CONCLUSION: The results suggest this investigation should be repeated on a larger scale. An educational intervention could be included in all consultations on any issue that could affect bowel activity.


Assuntos
Constipação Intestinal , Papel do Profissional de Enfermagem , Adulto , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Constipação Intestinal/terapia
13.
Cell ; 185(20): 3753-3769.e18, 2022 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-36179668

RESUMO

Interactions between angiogenesis and neurogenesis regulate embryonic brain development. However, a comprehensive understanding of the stages of vascular cell maturation is lacking, especially in the prenatal human brain. Using fluorescence-activated cell sorting, single-cell transcriptomics, and histological and ultrastructural analyses, we show that an ensemble of endothelial and mural cell subtypes tile the brain vasculature during the second trimester. These vascular cells follow distinct developmental trajectories and utilize diverse signaling mechanisms, including collagen, laminin, and midkine, to facilitate cell-cell communication and maturation. Interestingly, our results reveal that tip cells, a subtype of endothelial cells, are highly enriched near the ventricular zone, the site of active neurogenesis. Consistent with these observations, prenatal vascular cells transplanted into cortical organoids exhibit restricted lineage potential that favors tip cells, promotes neurogenesis, and reduces cellular stress. Together, our results uncover important mechanisms into vascular maturation during this critical period of human brain development.


Assuntos
Células Endoteliais , Neovascularização Fisiológica , Encéfalo , Colágeno , Humanos , Laminina , Midkina , Neovascularização Patológica/patologia , Neovascularização Fisiológica/fisiologia , Pericitos
14.
Front Nutr ; 9: 821016, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35187039

RESUMO

INTRODUCTION: The years spent at university are critical in terms of altering people's dietary patterns. This study aimed to: (1) understand the main dietary changes that students experience after starting university; (2) determine the personal and objective factors that hinder healthy eating, and (3) define possible strategies to facilitate healthier diets among university students. METHODS: The nominal group technique (NGT) was used to elicit ideas from 39 students from the University of Parma, Italy. The sample comprised 16 freshmen and 23 non-freshmen. Participants prioritized and weighed their top five ideas regarding dietary changes, barriers to healthy eating, and possible strategies to maintain a healthy diet. A thematic analysis was conducted to compare the priorities across groups. RESULTS: Forty-three themes were elected as the most significant changes related to diet, 39 themes related to personal barriers, 43 themes related to objective barriers, and 55 themes related to strategies. A lack of time for cooking, low financial availability, consumption of unvaried food or junk food, and gaining knowledge about food were identified as the main changes. Personal barriers to eating healthy were intrinsic (i.e., lack of willpower, personal gluttony, and little effort in cooking preparation), poor dietary information, and a busy lifestyle. Market and financial factors (i.e., the high price of healthy products and low financial availability), as well as social factors (i.e., the negative influence of social networks, childhood food education, and origin/tradition), emerged as objective barriers. Possible strategies that could encourage students to adopt a healthy diet include varying the food products offered in university canteens, including organizing spaces where students who prepare meals from home can warm up and eat their food. Student discounts at supermarkets and information on nutrition and a healthy diet were also identified as important ways of supporting students. CONCLUSION AND IMPLICATION FOR PRACTICE: In order to make students part of the solution, the NGT provided them with the opportunity to equally contribute their ideas and opinions about having a healthy diet in a university context. This could potentially lead to tailor-made solutions for policymakers, educators, and foodservice providers in promoting healthy eating habits.

15.
Meat Sci ; 187: 108745, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35124560

RESUMO

Reduction of meat intake and increase in vegetable consumption have attracted considerable attention from researchers and food businesses. We conducted a field experiment in a university canteen with the aim of investigating the main behavioral factors determining the consumption of a blended meat-mushroom burger. 296 students who consumed the blended burger completed a structured survey including hedonic and attitudinal questions. We then contacted the same sample after 1 month to measure their reported behavior. Our results show that providing information highlighting the sustainability attributes of mushrooms has the most significant and positive impact on acceptability in comparison to information related to nutrition and indulgence. In addition, the participants' beliefs about the health and sustainable benefits of mushrooms positively impact their attitude toward the blended burger. This then significantly influences their behavioral intention to purchase the product, which proves to be a good predictor of the consumption behavior. Our findings suggest marketing opportunities arising from blending plant-based ingredients with meat products.


Assuntos
Agaricales , Produtos da Carne , Dieta/veterinária , Humanos , Carne , Produtos da Carne/análise , América do Norte , Estudantes , Universidades
16.
Science ; 375(6579): eabk2346, 2022 01 28.
Artigo em Inglês | MEDLINE | ID: mdl-35084970

RESUMO

The human cortex contains inhibitory interneurons derived from the medial ganglionic eminence (MGE), a germinal zone in the embryonic ventral forebrain. How this germinal zone generates sufficient interneurons for the human brain remains unclear. We found that the human MGE (hMGE) contains nests of proliferative neuroblasts with ultrastructural and transcriptomic features that distinguish them from other progenitors in the hMGE. When dissociated hMGE cells are transplanted into the neonatal mouse brain, they reform into nests containing proliferating neuroblasts that generate young neurons that migrate extensively into the mouse forebrain and mature into different subtypes of functional interneurons. Together, these results indicate that the nest organization and sustained proliferation of neuroblasts in the hMGE provide a mechanism for the extended production of interneurons for the human forebrain.


Assuntos
Interneurônios/fisiologia , Eminência Mediana/embriologia , Células-Tronco Neurais/fisiologia , Neurogênese , Prosencéfalo/citologia , Animais , Animais Recém-Nascidos , Movimento Celular , Proliferação de Células , Córtex Cerebral/citologia , Córtex Cerebral/embriologia , Córtex Cerebral/crescimento & desenvolvimento , Neurônios GABAérgicos/citologia , Neurônios GABAérgicos/fisiologia , Perfilação da Expressão Gênica , Idade Gestacional , Humanos , Interneurônios/citologia , Eminência Mediana/citologia , Eminência Mediana/crescimento & desenvolvimento , Camundongos , Células-Tronco Neurais/transplante , Prosencéfalo/embriologia , Prosencéfalo/crescimento & desenvolvimento , Transplante Heterólogo
17.
IEEE/ACM Trans Comput Biol Bioinform ; 19(5): 2938-2949, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34181548

RESUMO

With the rise of genome-wide association studies (GWAS), the analysis of typical GWAS data sets with thousands of single-nucleotide polymorphisms (SNPs) has become crucial in biomedicine research. Here, we propose a new method to identify SNPs related to disease in case-control studies. The method, based on genetic distances between individuals, takes into account the possible population substructure, and avoids the issues of multiple testing. The method provides two ordered lists of SNPs; one with SNPs which minor alleles can be considered risk alleles for the disease, and another one with SNPs which minor alleles can be considered as protective. These two lists provide a useful tool to help the researcher to decide where to focus attention in a first stage.


Assuntos
Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Humanos , Alelos , Estudos de Casos e Controles , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Genótipo , Polimorfismo de Nucleotídeo Único/genética
18.
HIV Med ; 23(6): 639-649, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-34964226

RESUMO

OBJECTIVES: HIV outcomes centre primarily around clinical markers with limited focus on patient-reported outcomes. With a global trend towards capturing the outcomes that matter most to patients, there is agreement that standardizing the definition of value in HIV care is key to their incorporation. This study aims to address the lack of routine, standardized data in HIV care. METHODS: An international working group (WG) of 37 experts and patients, and a steering group (SG) of 18 experts were convened from 14 countries. The project team (PT) identified outcomes by conducting a literature review, screening 1979 articles and reviewing the full texts of 547 of these articles. Semi-structured interviews and advisory groups were performed with the WG, SG and people living with HIV to add to the list of potentially relevant outcomes. The WG voted via a modified Delphi process - informed by six Zoom calls - to establish a core set of outcomes for use in clinical practice. RESULTS: From 156 identified outcomes, consensus was reached to include three patient-reported outcomes, four clinician-reported measures and one administratively reported outcome; standardized measures were included. The WG also reached agreement to measure 22 risk-adjustment variables. This outcome set can be applied to any person living with HIV aged > 18 years. CONCLUSIONS: Adoption of the HIV360 outcome set will enable healthcare providers to record, compare and integrate standardized metrics across treatment sites to drive quality improvement in HIV care.


Assuntos
Infecções por HIV , Adulto , Consenso , Infecções por HIV/terapia , Pessoal de Saúde , Humanos , Avaliação de Resultados em Cuidados de Saúde , Medidas de Resultados Relatados pelo Paciente , Resultado do Tratamento
19.
Transl Psychiatry ; 11(1): 413, 2021 07 30.
Artigo em Inglês | MEDLINE | ID: mdl-34330890

RESUMO

Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three significant genes: ST3GAL3 (P = 1.6E-06), PCDH7 (P = 2.0E-06), and IPO13 (P = 2.5E-06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout sample of children (variance explained = 0.44%) and in retrospectively assessed childhood aggression (variance explained = 0.20%). Genetic correlations (rg) among rater-specific assessment of AGG ranged from rg = 0.46 between self- and teacher-assessment to rg = 0.81 between mother- and teacher-assessment. We obtained moderate-to-strong rgs with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range [Formula: see text]: 0.19-1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation (rg = ~-0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range [Formula: see text]: 0.46-0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- and self-reported AGG. The current GWAMA of childhood aggression provides a powerful tool to interrogate the rater-specific genetic etiology of AGG.


Assuntos
Agressão , Transtornos Mentais , Adolescente , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética , Estudo de Associação Genômica Ampla , Humanos , Lactente , Estudos Retrospectivos
20.
Transl Psychiatry ; 11(1): 382, 2021 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-34238926

RESUMO

Compelling evidence supports alterations in gut microbial diversity, bacterial composition, and/or relative abundance of several bacterial taxa in attention-deficit/hyperactivity disorder (ADHD). However, findings for ADHD are inconsistent among studies, and specific gut microbiome signatures for the disorder remain unknown. Given that previous studies have mainly focused on the pediatric form of the disorder and involved small sample sizes, we conducted the largest study to date to compare the gastrointestinal microbiome composition in 100 medication-naïve adults with ADHD and 100 sex-matched healthy controls. We found evidence that ADHD subjects have differences in the relative abundance of several microbial taxa. At the family level, our data support a lower relative abundance of Gracilibacteraceae and higher levels of Selenomonadaceae and Veillonellaceae in adults with ADHD. In addition, the ADHD group showed higher levels of Dialister and Megamonas and lower abundance of Anaerotaenia and Gracilibacter at the genus level. All four selected genera explained 15% of the variance of ADHD, and this microbial signature achieved an overall sensitivity of 74% and a specificity of 71% for distinguishing between ADHD patients and healthy controls. We also tested whether the selected genera correlate with age, body mass index (BMI), or scores of the ADHD rating scale but found no evidence of correlation between genera relative abundance and any of the selected traits. These results are in line with recent studies supporting gut microbiome alterations in neurodevelopment disorders, but further studies are needed to elucidate the role of the gut microbiota on the ADHD across the lifespan and its contribution to the persistence of the disorder from childhood to adulthood.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Microbioma Gastrointestinal , Transtornos do Neurodesenvolvimento , Adolescente , Adulto , Atenção , Índice de Massa Corporal , Criança , Humanos , Adulto Jovem
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