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AIM: This study aims to incorporate alginate microparticles containing berberine and fluconazole into two different types of pharmaceutical formulations, to subsequently evaluate the antifungal activity against Candida albicans. METHODS AND RESULTS: Alginate microparticles containing BBR (berberine) and FLU (fluconazole) were produced by the spray-drying technique, characterized and incorporated in two pharmaceutical formulations, a vaginal cream and artificial saliva. Broth microdilution, checkerboard, time-kill curve, and scanning electron microscopy were carried out to determine the antifungal effects of BBR and FLU against C. albicans. The minimum inhibitory concentration (MIC) and minimum fungicidal concentration (MFC) values of free BBR were 125 µg ml-1. Synergism between BBR and FLU was demonstrated by a fractional inhibitory concentration index (FICI) = 0.0762. The time-kill curve for the combination BBR + FLU showed a more pronounced decrease in fungal growth in comparison to free drugs, and an antibiofilm effect of BBR occurred in the formation and preformed biofilm. CONCLUSION: Alginate microparticles containing BBR and FLU were obtained and incorporated in a vaginal cream and artificial saliva. Both formulations showed good stability, antifungal effects, and organoleptic characteristics, which suggest that BBR-FLU microparticles in formulations have potential as antifungal therapy.
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Berberina , Candidiasis , Humanos , Femenino , Fluconazol/farmacología , Antifúngicos/farmacología , Antifúngicos/uso terapéutico , Berberina/farmacología , Saliva Artificial/farmacología , Saliva Artificial/uso terapéutico , Cremas, Espumas y Geles Vaginales/farmacología , Cremas, Espumas y Geles Vaginales/uso terapéutico , Candidiasis/microbiología , Candida albicans , Pruebas de Sensibilidad Microbiana , Alginatos/farmacología , Sinergismo Farmacológico , Farmacorresistencia FúngicaRESUMEN
BACKGROUND: Suicide is a significant cause of death worldwide. Various purposes can explain why people choose to attempt or commit suicide such as mental-health disorders, income-related-factors, quality of life or issues related to social context. This study aims to identify an updated association between 'isolation' and suicides. METHODS: In this regard, we had made a systematic review of the most recent papers, published from January 2016 to March 2022, thought the most acknowledged databases. This review was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for systematic reviews. To the best of our knowledge, this issue is very important due to the indirect relationship between COVID-19 and suicides. RESULTS: Our analysis demonstrates that suicide and -social isolation and loneliness- have a positive and direct relationship although these findings varied slightly by areas. Moreover, most of the attention is focused on the youth during the most recent period and this is a real problem because economies cannot afford losing (young) population. CONCLUSIONS: In order to prevent suicides, public policies should prevent suicidal thoughts that it could induce to terminate the lives of individuals in their most productive years and harmful outcomes to their families and friends.
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COVID-19 , Suicidio , Adolescente , Humanos , Soledad , Calidad de Vida , COVID-19/epidemiología , Aislamiento SocialRESUMEN
The Roma Diaspora-traditionally known as Gypsies-remains among the least explored population migratory events in historical times. It involved the migration of Roma ancestors out-of-India through the plateaus of Western Asia ultimately reaching Europe. The demographic effects of the Diaspora-bottlenecks, endogamy, and gene flow-might have left marked molecular traces in the Roma genomes. Here, we analyze the whole-genome sequence of 46 Roma individuals pertaining to four migrant groups in six European countries. Our analyses revealed a strong, early founder effect followed by a drastic reduction of â¼44% in effective population size. The Roma common ancestors split from the Punjabi population, from Northwest India, some generations before the Diaspora started, <2,000 years ago. The initial bottleneck and subsequent endogamy are revealed by the occurrence of extensive runs of homozygosity and identity-by-descent segments in all Roma populations. Furthermore, we provide evidence of gene flow from Armenian and Anatolian groups in present-day Roma, although the primary contribution to Roma gene pool comes from non-Roma Europeans, which accounts for >50% of their genomes. The linguistic and historical differentiation of Roma in migrant groups is confirmed by the differential proportion, but not a differential source, of European admixture in the Roma groups, which shows a westward cline. In the present study, we found that despite the strong admixture Roma had in their diaspora, the signature of the initial bottleneck and the subsequent endogamy is still present in Roma genomes.
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Genoma Humano , Romaní/genética , Europa (Continente) , Flujo Génico , Humanos , Filogeografía , Densidad de PoblaciónRESUMEN
BACKGROUND: This paper analyses the 2008 economic collapse in Spain with its long-lasting effects. Precisely, the ones associated with lifestyles. Thus, the aim of this paper is to examine to what extent economic downturns affect individual's drinking behavior when focusing on unemployed people. METHODS: We use discrete-choice models and matching techniques. Data from the National Health Survey for 2006 and 2011-2012 provides a clear picture before and after the 2008 breakdown in Spain. RESULTS: We find that drinking over the business cycle is a function of individual socio-demographic status. Besides, our empirical findings are consistent with the idea that following the crisis differences between unemployed and non-unemployed fell to at least in accordance with a lower overall consumption of alcoholic beverages. CONCLUSIONS: Public policy design for drinkers would require both prevention and recovery from alcohol use strategies to be met towards health and labour pillars.
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Consumo de Bebidas Alcohólicas/epidemiología , Recesión Económica , Desempleo/psicología , Adolescente , Adulto , Consumo de Bebidas Alcohólicas/psicología , Femenino , Encuestas Epidemiológicas , Humanos , Masculino , Persona de Mediana Edad , Política Pública , Factores Socioeconómicos , España/epidemiología , Desempleo/estadística & datos numéricosRESUMEN
BACKGROUND: The aim of this study is to identify the oral health status and treatment needs of Special Olympics athletes with intellectual disabilities from 181 countries by the assessment of oral health parameters and differences between world regions. MATERIAL AND METHODS: Data were collected through interview and oral examinations within the Healthy Athletes Screening. These data were analysed with descriptive statistics of oral health parameters of athletes from Africa, Asia Pacific, East Asia, Europe/Eurasia, Latin America, Middle East North Africa (MENA) and North America. Mean differences of untreated visible dental caries, gingival signs and missing teeth were tested between regions by one-way ANOVA test and between age groups (8-11, 12-18, 19-39 and 40+) by chi-square tests for multiple comparisons with Hochberg-adjusted p value. The level of significance for all tests was set at a p value < 0.05. RESULTS: A total of 149,272 athletes with intellectual disabilities were screened. More than 80% of the athletes reported that they cleaned their mouths at least once a day. Athletes in Europe/Eurasia, Latin America, and MENA presented higher rates of signs of gingival disease than other regions. The prevalence of untreated dental caries was significantly higher in Latin America and the group of 8-11-year-olds from Latin America, Europe/Eurasia and Asia Pacific. CONCLUSIONS: The data provided by this study demonstrate that continuous efforts for preventive and restorative oral health care are needed for the oral health of these athletes with ID especially in Latin America, MENA and Europe/Eurasia regions.
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Atletas , Discapacidad Intelectual , Salud Bucal , Adolescente , Adulto , Niño , Caries Dental/epidemiología , Femenino , Salud Global , Humanos , Entrevistas como Asunto , Masculino , Tamizaje Masivo , PrevalenciaRESUMEN
Transcription factors that drive neuron type-specific terminal differentiation programs in the developing nervous system are often expressed in several distinct neuronal cell types, but to what extent they have similar or distinct activities in individual neuronal cell types is generally not well explored. We investigate this problem using, as a starting point, the C. elegans LIM homeodomain transcription factor ttx-3, which acts as a terminal selector to drive the terminal differentiation program of the cholinergic AIY interneuron class. Using a panel of different terminal differentiation markers, including neurotransmitter synthesizing enzymes, neurotransmitter receptors and neuropeptides, we show that ttx-3 also controls the terminal differentiation program of two additional, distinct neuron types, namely the cholinergic AIA interneurons and the serotonergic NSM neurons. We show that the type of differentiation program that is controlled by ttx-3 in different neuron types is specified by a distinct set of collaborating transcription factors. One of the collaborating transcription factors is the POU homeobox gene unc-86, which collaborates with ttx-3 to determine the identity of the serotonergic NSM neurons. unc-86 in turn operates independently of ttx-3 in the anterior ganglion where it collaborates with the ARID-type transcription factor cfi-1 to determine the cholinergic identity of the IL2 sensory and URA motor neurons. In conclusion, transcription factors operate as terminal selectors in distinct combinations in different neuron types, defining neuron type-specific identity features.
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Proteínas de Caenorhabditis elegans/genética , Proteínas de Homeodominio/genética , Neuronas/citología , Neuronas/metabolismo , Neuropéptidos/genética , Factores del Dominio POU/genética , Animales , Caenorhabditis elegans/genética , Caenorhabditis elegans/crecimiento & desarrollo , Caenorhabditis elegans/metabolismo , Proteínas de Caenorhabditis elegans/metabolismo , Diferenciación Celular/genética , Neuronas Colinérgicas/citología , Neuronas Colinérgicas/metabolismo , Regulación del Desarrollo de la Expresión Génica , Genes de Helminto , Proteínas de Homeodominio/metabolismo , Interneuronas/citología , Interneuronas/metabolismo , Larva/citología , Larva/crecimiento & desarrollo , Larva/metabolismo , Neurogénesis/genética , Neuronas/clasificación , Neuropéptidos/metabolismo , Factores del Dominio POU/metabolismo , Neuronas Serotoninérgicas/citología , Neuronas Serotoninérgicas/metabolismo , Factores de Transcripción/genética , Factores de Transcripción/metabolismoRESUMEN
Tetradenia riparia (Lamiaceae) is native to Central Africa popularly known as myrrh, used in folk medicine to treat various diseases like malaria, gastroenteritis, and tropical skin disease. This research was to evaluate the antioxidant and antibacterial activities of the crude extract (CE) and fractions (FR) of the T. riparia by classical chromatography. The CE of T. riparia leaves was submitted to column chromatographic fractionation to obtain four fractions of the interest, which were identified by nuclear magnetic resonance and gas chromatograph coupled to mass spectrum: FR-I (abieta-7,9(11)-dien-13-ß-ol), FR-II (Ibozol), FR-III (8 (14), 15-sandaracopimaradiene-2α, 18-diol and 8 (14), 15-sandaracopimaradiene-7α, 18-diol), and FR-IV (Astragalin, Boronolide and Luteolin). Total phenol content of CE and FR were measured, and antioxidant action by methods of DPPH (2,2-diphenyl-1-picrylhydrazyl), ß-carotene/linoleic acid system, and ferric reducing/antioxidant power (FRAP) and the antibacterial activity was evaluated by the broth microdilution method with the determination of the minimum inhibitory concentration (MIC). The FR-IV presented antioxidant potential with 181.67 µg gallic acid/mg, IC50 of 0.61 µg/mL by DPPH method, 55.61% oxidation protection by ß-carotene/linoleic acid system and 4.59 µM ferrous sulfate/mg of sample by FRAP, and the FR-I showed higher antibacterial potential on the strain Staphylococcus aureus with MIC 0.98 µg/mL, Enterococcus faecalis and Bacillus cereus with MIC 31.2 µg/mL. Thus, the fractionation of CE was extremely important to detect fractions with potential activities, and investigations are necessary regarding the mechanism of action and action in vivo.
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Antibacterianos/farmacología , Antioxidantes/farmacología , Lamiaceae/química , Extractos Vegetales/farmacología , África Central , Antibacterianos/aislamiento & purificación , Antioxidantes/aislamiento & purificación , Bacillus cereus/efectos de los fármacos , Brasil , Cromatografía Liquida , Bacterias Gramnegativas/efectos de los fármacos , Bacterias Grampositivas/efectos de los fármacos , Concentración 50 Inhibidora , Espectroscopía de Resonancia Magnética , Espectrometría de Masas , Pruebas de Sensibilidad Microbiana , Extractos Vegetales/aislamiento & purificación , Hojas de la Planta/químicaRESUMEN
BACKGROUND: A 24-h-stay in the post-anesthesia care unit (PACU) is a common postoperative procedure after deep brain stimulation surgery (DBS). OBJECTIVE: We evaluated the impact of a fast-track (FT) postoperative care protocol. METHODS: An analysis was performed on all patients who underwent DBS in 2 periods: 2006, overnight monitored care (OMC group), and 2007-2013, FT care (FT group). RESULTS: The study included 19 patients in OMC and 95 patients in FT. Intraoperative complications occurred in 26.3% patients in OMC vs. 35.8% in FT. Post-operatively, one patient in OMC developed hemiparesis, and agitation in 2 patients. In FT, two patients with intraoperative hemiparesis were transferred to the ICU. While on the ward, 3 patients from the FT developed hemiparesis, two of them 48h after the procedure. Thirty eight percent of FT had an MRI scan, while the remaining 62% and all patients of OMC had a CT-scan performed on their transfer to the ward. One patient in OMC had a subthalamic hematoma. Two patients in FT had a pallidal hematoma, and 3 a bleeding along the electrode. CONCLUSIONS: A FT discharge protocol is a safe postoperative care after DBS. There are a small percentage of complications after DBS, which mainly occur within the first 6h.
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Estimulación Encefálica Profunda , Cuidados Posoperatorios , Humanos , Imagen por Resonancia Magnética , Enfermedad de Parkinson , Complicaciones Posoperatorias , Núcleo Subtalámico , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
AIM: To determine the knowledge and attitudes of nurses in Primary Care as regards gender violence and their relationship with socio-demographic factors and cases detected. DESIGN: Cross-sectional, descriptive study. LOCATION: Urban health centres. PARTICIPANTS: A total of 167 nurses working in Primary Care. MAIN MEASUREMENTS: A questionnaire was used that included questions related to knowledge, knowledge perception and attitudes to gender violence attitudes. Variables such as age, gender, marital status, work place and health area were also analysed. RESULTS: The response rate was 114 (68.26%). The percentage of correct responses in the knowledge questions was 62.2%, with a medium level of knowledge being observed. Married nurses or couples living in a stable relationship obtained a higher score (95.2%, P=.077). The low detection (29%) is associated with marital status (P=.004), low knowledge (P=0,008), low knowledge perception (P=.001), lack of training (P=.03) and non-implementation of the gender violence protocol (P=.001). Nurses with low self-perception of their knowledge implement the protocol less often (OR=0.26; 95% CI: 0.1-0.7), and they consider that the lack of training is the main problem in determining the diagnosis (OR=11.24; 95% CI: 1.5-81.1). CONCLUSIONS: The level of knowledge was adequate. Nurses have a lack of confidence in terms of their knowledge about gender violence. The detection and diagnosis attitudes are more related to self-perception of levels of knowledge than their real knowledge. Marital status influences the level of knowledge. Professionals state that the lack of training is the main problem to give an efficient healthcare response.
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Actitud del Personal de Salud , Violencia Doméstica , Conocimientos, Actitudes y Práctica en Salud , Enfermería de Atención Primaria , Adulto , Anciano , Estudios Transversales , Femenino , Humanos , Relaciones Interpersonales , Masculino , Persona de Mediana Edad , Autoimagen , Autoinforme , Adulto JovenRESUMEN
Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. To gain further insights into the molecular mechanisms of the disease, we evaluated at the molecular level, the perturbation linked to the FSHD genotype with no a priori on disease onset, severity or penetrance and prior to any infiltration by fibrotic or adipose tissue in biopsies from fetuses carrying a short pathogenic D4Z4 array (n = 6) compared with fetuses with a non-pathogenic D4Z4 array (n = 21). By measuring expression of several muscle-specific markers and 4q35 genes including the DUX4 retrogene by an RT-PCR and western blotting, we observed a global dysregulation of genes involved in myogenesis including MYOD1 in samples with <11 D4Z4. The DUX4-fl pathogenic transcript was detected in FSHD biopsies but also in controls. Importantly, in FSHD fetuses, we mainly detected the non-spliced DUX4-fl isoform. In addition, several other genes clustered at the 4q35 locus are upregulated in FSHD fetuses. Our study is the first to examine fetuses carrying an FSHD-linked genotype and reveals an extensive dysregulation of several muscle-specific and 4q35 genes at early development stage at a distance from any muscle defect. Overall, our work suggests that even if FSHD is an adult-onset muscular dystrophy, the disease might also involve early molecular defects arising during myogenesis or early differentiation.
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Cromosomas Humanos Par 4/genética , Feto/metabolismo , Proteínas de Homeodominio/genética , Desarrollo de Músculos/genética , Distrofia Muscular Facioescapulohumeral/genética , Distrofia Muscular Facioescapulohumeral/fisiopatología , Estudios de Casos y Controles , Diferenciación Celular/genética , Feto/patología , Regulación del Desarrollo de la Expresión Génica , Humanos , Distrofia Muscular Facioescapulohumeral/embriología , Proteína MioD/genética , Especificidad de Órganos , Penetrancia , Secuencias Repetitivas de Ácidos NucleicosRESUMEN
Identification of new drugs and predicting drug response are major challenges in oncology, especially for brain tumors, because total surgical resection is difficult and radiation therapy or chemotherapy is often ineffective. With the aim of developing a culture system close to in vivo conditions for testing new drugs, we characterized an ex vivo three-dimensional culture system based on a hyaluronic acid-rich hydrogel and compared it with classical two-dimensional culture conditions. U87-MG glioblastoma cells and seven primary cell cultures of human glioblastomas were subjected to radiation therapy and chemotherapy drugs. It appears that 3D hydrogel preserves the original cancer growth behavior and enables assessment of the sensitivity of malignant gliomas to radiation and drugs with regard to inter-tumoral heterogeneity of therapeutic response. It could be used for preclinical assessment of new therapies.
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Proliferación Celular , Evaluación Preclínica de Medicamentos/métodos , Glioblastoma/patología , Hidrogel de Polietilenoglicol-Dimetacrilato/química , Cultivo Primario de Células/métodos , Tolerancia a Radiación , Andamios del Tejido , Animales , Forma de la Célula , Humanos , Ratones , Ratones Desnudos , Andamios del Tejido/química , Células Tumorales Cultivadas , Ensayos Antitumor por Modelo de Xenoinjerto/métodosRESUMEN
BACKGROUND: Special Olympics athletes, as part of the population with intellectual disabilities, are reported to be more vulnerable to dental injuries due to poor lip closure, slow response to environmental obstacles, oral pathologic reflexes, or dental features. The aim of this study was to assess the prevalence of dental trauma among Special Olympics athletes in countries of Europe and Eurasia. MATERIAL AND METHODS: A retrospective longitudinal study was performed with data collected through standardized Special Smiles screening forms and procedures from consenting 15,941 athletes participating in the annual Special Olympics held in 49 countries from Europe and Eurasia between 2007 and 2012. The data was compiled in an Excel worksheet and transferred to an SPSS data file in order to be analyzed. RESULTS: A total of 2190 athletes presented dental injury (13.02%) with a std. deviation of 5.02%, and there were no significant differences (p = 0.136) in mean dental injury between age groups (one-way ANOVA test). CONCLUSIONS: The present data suggest that dental trauma is an actual problem among individuals with special needs. The distribution of prevalence among the different countries had a remarkable variability, but it is evident that a relatively high proportion of this population is in need of dental trauma preventive programs.
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Atletas , Traumatismos en Atletas/epidemiología , Incisivo/lesiones , Adolescente , Adulto , Asia , Traumatismos en Atletas/etiología , Europa (Continente) , Femenino , Humanos , Masculino , Estudios RetrospectivosRESUMEN
BACKGROUND: Special Olympics athletes, as well as the general population of people with intellectual disabilities, are expected to have poorer gingival health. The aim of the study is to explore the prevalence of gingival signs of inflammation and its relationship to oral cleanliness and age among Special Olympics athletes from Europe and Eurasia. MATERIAL AND METHODS: A retrospective longitudinal study was performed with data collected through standardized oral from 15.941 athletes from annual Special Olympics events held in 49 countries, from Europe and Eurasia between 2007 and 2012. The data was analysed descriptively, with One-Way ANOVA test and Chi-Square test. RESULTS: The level of significance was predetermined at a p value < 0.05. A total of 7,754 athletes presented with gingival signs (48.64%). There were no significant differences (p= 0,095) in mean gingival signs between age groups, however the association between mouth cleaning and age, was statistically significant. CONCLUSIONS: The data suggests that there is a high prevalence of gingival signs among individuals with special needs; over 50% in more than 20 countries. Therefore, there is a serious need for education and preventive programs for the patients, their parents and caregivers.
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Atletas , Personas con Discapacidad , Encía , Salud Bucal , Higiene Bucal , Adolescente , Adulto , Asia , Europa (Continente) , Femenino , Humanos , Internacionalidad , Estudios Longitudinales , Masculino , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Severe leptospirosis occurs mainly in a tropical environment and includes icterus, acute renal failure and hemorrhages. These bleedings, which are mainly a consequence of acute homeostatic disturbances, can also reveal simultaneous diseases. Coinfections with other tropical diseases have been previously reported during leptospirosis. To our knowledge, invasive amebiasis, which can induce gastrointestinal bleedings, has never been described in the course of severe leptospirosis. CASE PRESENTATION: In this report, we describe a case of a 60 year-old man living in Reunion Island (Indian Ocean, France) admitted to our intensive care unit for severe Leptospira interrogans serovar icterohaemorrhagiae infection with neurological, renal, liver and hematological involvement. Two lower gastrointestinal bleedings occurred 7 and 15 days after admission. The first episode was promoted by hemostatic disturbances while the second bleeding occurred during low-dose heparin therapy. Colonoscopy revealed a pseudo-tumoral inflammatory mass of the recto-sigmoid junction. Histological examination found trophozoites inside mucinous exudate suggestive of Entamoeba histolytica. Amoebic serology was strongly positive whereas careful detection of cysts or trophozoites on saline-wet mount was negative in three consecutive samples of stools. Amoxicillin followed by metronidazole therapy, combined with supportive care, led to an improvement in the clinical and biological patient's condition and endoscopic appearances. CONCLUSION: Clinicians should be aware that gastrointestinal bleeding during severe leptospirosis could not solely be the consequences of hemostatic disturbances. Careful endoscopic evaluation that may reveal curable coinfections should also be considered.
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Entamoeba histolytica/aislamiento & purificación , Entamebiasis/diagnóstico , Leptospirosis/diagnóstico , Lesión Renal Aguda/etiología , Diagnóstico Diferencial , Entamebiasis/complicaciones , Hemorragia Gastrointestinal/etiología , Humanos , Ictericia/etiología , Leptospirosis/complicaciones , Masculino , Persona de Mediana EdadRESUMEN
Insects have recently received much attention as sustainable protein sources due to their nutritional value and eco-friendliness. Unlike conventional livestock, insects require minimal resources and produce fewer greenhouse gas emissions. Moreover, insects offer high-quality protein, essential amino acids, and various vitamins and minerals. This study in Spain, specifically in Castilla y León, investigated insect consumption acceptance across age groups, particularly among older individuals, shedding light on factors influencing adoption. The findings inform strategies to address global protein deficiencies and advocate sustainable food practices, with implications for broader European research amidst challenges like water scarcity. Methods: A survey-based research approach collected data on attitudes, preferences, and motivations regarding insect consumption. Statistical analyses were conducted to identify demographic trends and significant associations. Results: Elderly participants expressed reluctance towards insect consumption but showed openness in survival scenarios. Younger individuals exhibited greater willingness to try insects, influenced by factors such as education and previous experiences. Conclusion: Understanding demographic variations in attitudes towards entomophagy is vital for fostering its acceptance. This study demonstrated that older individuals exhibit greater resistance to incorporating insects into their diets compared with younger individuals. Recommended strategies include incorporating insects discreetly into familiar foods and highlighting their nutritional advantages. Collaboration between researchers and stakeholders is essential for harnessing the potential of insects as a sustainable protein source.
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OBJECTIVE: To design a homogeneous methodology for the registration and analysis of pharmaceutical interventions performed in Spanish critical adults' care units. METHOD: Observational, prospective and multicenter study. In the first stage, a national registry of pharmaceutical interventions will be agreed upon and subsequently all the pharmaceutical interventions performed on adult patients admitted to Spanish CCUs during eight weeks will be recorded. Variables related to the type of CCU, the drug involved in the intervention, type of intervention (indication, effectiveness, safety), recommendation made by the pharmacist and the degree of acceptance will be evaluated. Risk and incidence will be calculated for each of the medication errors detected. The χ2-squared test or Fisher exact test will be used for categorical variables and Mann-Whitney U or Kruskal-Wallis test for continuous variables. All tests will be performed with a significance level αâ¯=â¯0.05 and confidence intervals with confidence 1- α. DISCUSSION: The results obtained from this project will make it possible to obtain a homogeneous classification of the pharmaceutical interventions performed in CCU, a national record and an evaluation of the weak points with the aim of developing strategies for improvement in the pharmaceutical care of the critically ill patient.
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Targeted amplicon sequencing is a powerful and efficient tool to interrogate the P . falciparum genome and generate actionable data from infections to complement traditional malaria epidemiology. For maximum impact, genomic tools should be multi-purpose, robust, sensitive and reproducible. We developed, characterized, and implemented MAD 4 HatTeR, an amplicon sequencing panel based on Multiplex Amplicons for Drug, Diagnostic, Diversity, and Differentiation Haplotypes using Targeted Resequencing, along with a bioinformatic pipeline for data analysis. MAD 4 HatTeR targets 165 highly diverse loci, focusing on multiallelic microhaplotypes; key markers for drug and diagnostic resistance, including duplications and deletions; and csp and potential vaccine targets. In addition, it can detect non- falciparum Plasmodium species. We used laboratory control and field sample data to demonstrate the high sensitivity and robustness of the panel. The successful implementation of this method in five laboratories, including three in malaria-endemic African countries, showcases its feasibility in generating reproducible data across laboratories. Finally, we introduce an analytical approach to detect gene duplications and deletions from amplicon sequencing data. MAD 4 HatTeR is thus a powerful research tool and a robust resource for malaria public health surveillance and control.
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L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiology is incompletely understood. The aim of this study was to report detailed neuropathological data from patients with mutations, to delineate the neuropathological criteria required for L1CAM gene screening in foetuses by characterizing the sensitivity, specificity and positive predictive value of the cardinal signs, and to discuss the main differential diagnoses in non-mutated foetuses in order to delineate closely related conditions without L1CAM mutations. Neuropathological data from 138 cases referred to our genetic laboratory for screening of the L1CAM gene were retrospectively reviewed. Fifty-seven cases had deleterious L1CAM mutations. Of these, 100 % had hydrocephalus, 88 % adducted thumbs, 98 % pyramidal tract agenesis/hypoplasia, 90 % stenosis of the aqueduct of Sylvius and 68 % agenesis/hypoplasia of the corpus callosum. Two foetuses had L1CAM mutations of unknown significance. Seventy-nine cases had no L1CAM mutations; these were subdivided into four groups: (1) hydrocephalus sometimes associated with corpus callosum agenesis (44 %); (2) atresia/forking of the aqueduct of Sylvius/rhombencephalosynapsis spectrum (27 %); (3) syndromic hydrocephalus (9 %), and (4) phenocopies with no mutations in the L1CAM gene (20 %) and in whom family history strongly suggested an autosomal recessive mode of transmission. These data underline the existence of closely related clinical entities whose molecular bases are currently unknown. The identification of the causative genes would greatly improve our knowledge of the defective pathways involved in these cerebral malformations.
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Acueducto del Mesencéfalo/anomalías , Acueducto del Mesencéfalo/patología , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Hidrocefalia/patología , Enfermedades del Sistema Nervioso/patología , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Femenino , Humanos , Recién Nacido , Mutación/genética , Enfermedades del Sistema Nervioso/genética , Molécula L1 de Adhesión de Célula Nerviosa/genética , Linaje , Fenotipo , EmbarazoRESUMEN
Glomus tumours are clinically defined by a triad of symptoms, i.e. paroxysmal pain, pinpoint tenderness and hypersensitivity to cold. These tumours typically affect the upper limbs, are small in size, superficially located and mostly found in adults. During a radiologic assessment of an idiopathic scoliosis in a 13-year-old girl, we found a calcified mass lesion in the soft tissue of the proximal thigh. The child was asymptomatic. Complementary exams permitted the definition of an interfascial calcified tumour with a long axis of 50 mm, with an inferior polar soft-tissue component. After excision, the anatomical pathology analysis confirmed the diagnosis of calcified glomus tumour. This clinical and radiologic presentation is particularly uncommon for a glomus tumour, which enriches the range of differential diagnoses of calcified masses in soft tissue.
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Calcinosis/complicaciones , Calcinosis/diagnóstico , Tumor Glómico/complicaciones , Tumor Glómico/diagnóstico , Neoplasias de los Tejidos Blandos/complicaciones , Neoplasias de los Tejidos Blandos/diagnóstico , Muslo/patología , Diagnóstico por Imagen/métodos , Humanos , Hallazgos Incidentales , Radiografía , Enfermedades Raras/diagnóstico , Muslo/diagnóstico por imagen , UltrasonografíaRESUMEN
OBJECTIVES: Stensen's duct is a very uncommon location for rhabdomyosarcoma. The purpose of this article was to review the clinical history of 2 patients who had rhabdomyosarcoma of Stensen's duct. METHODS: We reviewed the clinical history, imaging studies, histologic analysis, and treatment of 2 patients with rhabdomyosarcoma of Stensen's duct. RESULTS: An 8-year-old boy (case 1) and a 17-year-old boy (case 2) presented with nonspecific facial swelling. In both patients, imaging studies showed a tumor at Stensen's duct, and biopsy showed embryonal rhabdomyosarcoma. Both patients were treated with preoperative chemotherapy, parotidectomy, and resection of Stensen's duct and postoperative chemotherapy and radiation therapy. Follow-up at 9 years (case 1) and 2 years (case 2) after surgery showed that the patients were free of disease. CONCLUSIONS: Stensen's duct rhabdomyosarcoma is rare and may have a better prognosis than rhabdomyosarcoma in other locations in the head and neck.