The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

OBJECTIVE: to report the first case series of Brazilian children diagnosed with Kleefstra syndrome, present a possible phenotype expansion to the syndrome and to raise physicians' awareness for this rare disease. RESULTS: seven patients with confirmed KS were evaluated, including 5 males and 2 females. Abnormal prenatal findings were observed in 4 patients. Most patients were born at term, with normal birth measurements. All patients had neurodevelopmental delay and 6 evolved with intellectual disability. Hearing loss was present in 57.1% of patients and 28.7% had congenital heart disease. In males, cryptorchidism was present in 75%. Despite the facial dysmorphisms, only 2 out of 7 patients had a pre-test clinical suspicion of KS. One specific patient presented bilateral agenesis of the semicircular canals, a very rare ear manifestation in Kleefstra syndrome, representing a possible phenotype expansion of the syndrome. CONCLUSION: this report aims to promote awareness among physicians evaluating patients in a context of neurodevelopmental delay or congenital malformations, especially congenital heart defects. We also highlight a possible phenotype expansion of the syndrome, with a case of semicircular anomaly, not reported in this syndrome so far.

[20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report]. / Síndrome de microdeleción 20q11.2: ampliación del espectro fenotípico. Reporte de un caso.

Background: 20q11.2 microdeletion syndrome [ORPHA: 444051] is a rare disease, since 16 patients have been reported in literature worldwide. Prevalence ratio is < 1:1,000,000 individuals. Haploinsufficiency on GDF5, SAMHD1 and EPB41L1 genes is important due to phenotypic manifestations in patients. Clinical features can be grouped into craniofacial abnormalities, limb abnormalities, neurological and perinatal disorders. The aim of this report is to present a clinical case of 20q11.21-q11.23 microdeletion, to describe clinical manifestations found, to compare them with features reported in literature, and to contribute to the phenotypic spectrum expansion. Clinical case: 5-year-old female patient who presented hypotonia, psychomotor retardation, microcephaly, facial dysmorphia, pectus excavatum, thoracolumbar scoliosis, right hip subluxation, camptodactyly and clinodactyly. Karyotype test was normal and SNP microarray test reported deletion of chromosomal region 20q11.21-q11.23. Conclusions: It was presented a 20q11.2 microdeletion syndrome confirmed case that shares the features reported in literature, in addition to previously unreported features, such as blepharoptosis, pectus excavatum, scoliosis and hip dysplasia. Interdisciplinary management is important to improve the patient's condition (in her 3 spheres), in order to achieve her best possible health status.

Introducción: el síndrome de microdeleción 20q11.2 [ORPHA: 444051] es una enfermedad rara, pues se han reportado 16 casos a nivel mundial. Su prevalencia se estima en < 1:1,000,000 de nacidos vivos. Induce haploinsuficiencia en los genes GDF5, SAMHD1 y EPB41L1, los cuales son de importancia clínica por las manifestaciones fenotípicas. Se caracteriza por anomalías craneofaciales, anomalías de extremidades, alteraciones neurológicas y perinatales. El objetivo de este reporte es presentar un caso de microdeleción 20q11.21-q11.23, describir las manifestaciones clínicas encontradas, compararlo con lo reportado en la literatura y colaborar en la ampliación del espectro fenotípico. Caso clínico: paciente del sexo femenino de 5 años que presentó hipotonía, retraso psicomotor, microcefalia, dismorfias faciales, pectus excavatum, escoliosis toracolumbar, subluxación de cadera derecha, camptodactilia y clinodactilia. La prueba de cariotipo se reportó sin alteraciones y el ensayo de microarreglo de polimorfismos de un nucleótido (SNP) reportó deleción de la región cromosómica 20q11.21-q11.23. Conclusiones: se presentó un caso confirmado de síndrome de microdeleción 20q11.2 que comparte las características reportadas en la literatura, además de características no reportadas previamente, como ptosis palpebral, pectus excavatum, escoliosis y displasia del desarrollo de cadera. Es importante el manejo interdisciplinario para buscar mejoría en la condición de la paciente (en sus 3 esferas), a fin de alcanzar el mejor estado de salud posible.

The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach.

The 22q11.2 deletion syndrome (DS) can have a significant impact on functionality. The purpose was to describe 22q11.2DS children with functioning from a biopsychosocial perspective, focusing on the impact of children's health condition from domains of the International Classification of Functioning, Disability, and Health (ICF). METHODS: A descriptive, cross-sectional case series study with seven 22q11.2DS children. A questionnaire with an ICF checklist for 22q11.2DS was completed using a structured interview. The Wechsler Abbreviated Scale of Intelligence (WASI) was used to determine the Intelligence Quotient (IQ). RESULTS: Seven participants from 7 to 12 years old, presented some level of IQ impairment. It was observed that 22q11.2DS children experience significant intellectual, cognitive, and speech impairments across ICF Body Function domains. Impairments related to nose and pharynx were found in only one patient. The most relevant categories considered limitations in the Activity and Participation components pertained to producing nonverbal messages, communication, handling stress, and social interaction. Family, health professionals, and acquaintances were perceived as facilitators in the component Environmental Factors. CONCLUSION: The sample has its functioning affected by aspects that go beyond impairments in body structure and function. The organization of information from the perspective of the ICF is a different approach that helps clinical reasoning.

Testing an online screening for autism in the COVID-19 pandemic: a psychometric study of the Q-CHAT-24 in Chilean toddlers.

Background: The aim of this study was to examine some psychometric characteristics of the Chilean-adapted version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT-24) (24) in a group of unselected children (community sample). This version was administered remotely through an online version during the pandemic period to caregivers of children, aged 18-24 months, registered in four primary care polyclinics of the Health Service Araucanía Sur, Chile. Methods: An intentional non-probabilistic sampling was used. Three hundred and thirteen toddlers were examined. Participants completed an online version of the Q-CHAT-24 which was disseminated through the REDCap platform. Evidence of reliability through internal consistency and evidence of predictive validity through ROC curve analysis were realized. Results: The mean age of the children evaluated was 21.16 months. The Shapiro-Wilk test revealed that Q-CHAT-24 scores was normally distributed. 71 cases (23.12%) scored 38 points or more on the Q-CHAT-24, qualifying as Autistic Risk. 48 cases (15.63%) were confirmed as autistic through the ADOS-2 Module T. All items were positively correlated with Q-CHAT-24 total score. All items were positively correlated with Q-CHAT-24 total score. Internal consistency was acceptable for the Q-CHAT-24 (Cronbach ´s α=0.78). The internal consistencies were analyzed for the Q-CHAT-24 Factors, and they were good for factor 1 "Communication and Social Interaction" (Cronbach ´s α=0.85) and acceptable for factor 2 "Restrictive and Repetitive Patterns" (Cronbach ´s α=0.74). Receiver operating characteristic (ROC) curve analyses were performed. The AUC values were 0.93 with statistical significance (p<0.01). For the cut-off point of 38, the Sensitivity, Specificity and Youden index values were 0.89, 0.8 and 0.7, respectively. The Positive Predictive Value (PPV) was 86% and the Negative Predictive Value (NPV) was 85%. Conclusions: In accordance with the objectives of this study, evidence of reliability and predictive validity was demonstrated for the Q-CHAT-24 in this Chilean population. More importantly, this study provides Sensitivity and Specificity data for a remote application version of an autism screening tool already validated in Chile. The implications of this have to do with the possibility of establishing a remote assessment system for children at risk of autism on a population scale.

Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.

BACKGROUND: The 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, emphasizing the need to understand and address the distinctive healthcare requirements of those affected. This paper examines the multifaceted issue of health service access and caregivers' quality of life in the context of 22q11.2 DS in Brazil, a condition with diverse signs and symptoms requiring multidisciplinary care. This study employs a comprehensive approach to evaluate health service accessibility and the quality of life of caregivers of individuals with 22q11.2 DS. It utilizes a structured Survey and the WHOQOL-bref questionnaire for data collection. RESULTS: Individuals with 22q11.2 DS continue to receive incomplete clinical management after obtaining the diagnosis, even in the face of socioeconomic status that enabled an average age of diagnosis that precedes that found in sample groups that are more representative of the Brazilian population (mean of 3.2 years versus 10 years, respectively). In turn, caring for individuals with 22q11.2 DS who face difficulty accessing health services impacts the quality of life associated with the caregivers' environment of residence. CONCLUSIONS: Results obtained help bridge the research gap in understanding how caring for individuals with multisystem clinical conditions such as 22q11.2 DS and difficulties in accessing health are intertwined with aspects of quality of life in Brazil. This research paves the way for more inclusive healthcare policies and interventions to enhance the quality of life for families affected by this syndrome.

Estudio comparativo del dolor abdominal en las culturas maya Tzeltal, maya Tzotzil y maya Q ́eqchi ́y el uso de Ageratina ligustrina para su tratamiento / Comparative study of abdominal pain in the Mayan cultures Tzeltal, Maya Tzotzil and Maya Q ́eqchi´ and use of Ageratina ligustrina for the treatment

El presente estudio es una comparación del dolor abdominal producido por trastornos gastrointestinales, aliviado por Ageratina ligustrina , entre los grupos maya Tzeltal, Tzotzil y Q ́eqchi ́, el cual integró un enfoque etnomédico, etnobotánico y transcultural, comparando estudios previos con el presente trabajo de campo. Para evaluar la eficacia de Ageratina para aliviar el dolor abdominal, se realizó un inventario de las moléculas reportadas en esta especie, así como de su actividad farmacológica, a través de una revisión bibliográfica. Los resultados mostraron que la epidemiología del dolor producido por TGI, su etnobotánica y el modelo explicativo del dolor abdominal fueron similares entre grupos étnicos. Asimismo, se identificaron 27 moléculas con efectos antiinflamatorios y antinociceptivos, lo que podría explicar por qué esta especie es culturalmente importante para los pobladores maya Tzeltal, Tzotzil y Q ́eqch i ́ para el alivio del dolor abdominal, mientras que, desde el punto de vista biomédico, es una especie con potencial para inhibir el dolor visceral.

The current study is a comparison of the abdominal pain conception produced by gastrointestinal disorders, relieved by Ageratina ligustrina , among inhabitants of the Mayan Tzeltal, Tzotzil, and Q'eqchi' groups ethnomedical, ethnobotanical, and cross -cultural approaches were used to compare previous studies with the present field work. To evaluate the efficacy of A. ligustrina to relieve pain, also through a bibliographic review an inventory of the molecules present in this species was performed, as well as their pharmacological activity. The results showed that the epidemiology of pain produced by GID, its ethnobotany, and the explanatory model of abdominal pain are similar among ethnic groups. Likewise, 27 molecules with anti-inflammatory and anti-nociceptive effects were identified, which could explain why this species is culturally important for the Mayan Tzeltal, Tzotzil, and Q'eqchi' groups for the relief of abdominal pain, while, from a biomedical point of view, it is a species with potential to inhibit visceral pain.

Enhancing the Efficiency of a Cybersecurity Operations Center Using Biomimetic Algorithms Empowered by Deep Q-Learning.

In the complex and dynamic landscape of cyber threats, organizations require sophisticated strategies for managing Cybersecurity Operations Centers and deploying Security Information and Event Management systems. Our study enhances these strategies by integrating the precision of well-known biomimetic optimization algorithms-namely Particle Swarm Optimization, the Bat Algorithm, the Gray Wolf Optimizer, and the Orca Predator Algorithm-with the adaptability of Deep Q-Learning, a reinforcement learning technique that leverages deep neural networks to teach algorithms optimal actions through trial and error in complex environments. This hybrid methodology targets the efficient allocation and deployment of network intrusion detection sensors while balancing cost-effectiveness with essential network security imperatives. Comprehensive computational tests show that versions enhanced with Deep Q-Learning significantly outperform their native counterparts, especially in complex infrastructures. These results highlight the efficacy of integrating metaheuristics with reinforcement learning to tackle complex optimization challenges, underscoring Deep Q-Learning's potential to boost cybersecurity measures in rapidly evolving threat environments.

Safety and efficacy indicators of guarana and Brazil nut extract carried in nanoparticles of coenzyme Q10: Evidence from human blood cells and red earthworm experimental model.

This study characterized a nanosupplement based on coenzyme Q10 containing guarana (Paullinia cupana) and Brazil nuts oil (Bertholetia excelsa) (G-Nut). Determined cytotoxic and oxi-immunomodulatory effects on human peripheral blood mononuclear cells (PBMCs) and its effect on mortality of red Californian earthworms (Eisenia fetida) and on the immune efficiency of its coelomocytes immune by in vitro exposure to yeast dead microorganism. The cytotoxic and immunomodulatory effects of G-Nut and the GN-Free extract (0.25-3 mg/mL) were determined in PBMC cultures. Apoptotic, oxidative, and inflammatory markers were determined using biochemical, immunological, and molecular protocols. The effects of G-Nut and GN-Free extracts on mortality and immune efficiency were investigated in earthworms. G-Nut and GN-Free did not induce cytotoxic events in PBMCs, triggering the decrease in apoptotic (caspases 3 and 8) gene expression, lipid and protein oxidation levels, or pro-inflammatory cytokine levels. G-Nut and GN-Free did not trigger earthworm mortality and improved coelomocyte immune efficiency by increasing Eisenia neutrophil extracellular DNA traps and brown body formation when exposed to dead yeasts. The G-Nut nanoformulation is safe and can be used as a new form of food supplement by oral or transdermal delivery.

Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p.

BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with highly variable phenotypic manifestations, even though most patients present the typical 3 Mb microdeletion, usually affecting the same ~ 106 genes. One of the genes affected by this deletion is DGCR8, which plays a crucial role in miRNA biogenesis. Therefore, the haploinsufficiency of DGCR8 due to this microdeletion can alter the modulation of the expression of several miRNAs involved in a range of biological processes. RESULTS: In this study, we used next-generation sequencing to evaluate the miRNAs profiles in the peripheral blood of 12 individuals with typical 22q11DS compared to 12 healthy matched controls. We used the DESeq2 package for differential gene expression analysis and the DIANA-miTED dataset to verify the expression of differentially expressed miRNAs in other tissues. We used miRWalk to predict the target genes of differentially expressed miRNAs. Here, we described two differentially expressed miRNAs in patients compared to controls: hsa-miR-1304-3p, located outside the 22q11.2 region, upregulated in patients, and hsa-miR-185-5p, located in the 22q11.2 region, which showed downregulation. Expression of miR-185-5p is observed in tissues frequently affected in patients with 22q11DS, and previous studies have reported its downregulation in individuals with 22q11DS. hsa-miR-1304-3p has low expression in blood and, thus, needs more validation, though using a sensitive technology allowed us to identify differences in expression between patients and controls. CONCLUSIONS: Thus, lower expression of miR-185-5p can be related to the 22q11.2 deletion and DGCR8 haploinsufficiency, leading to phenotypic consequences in 22q11.2DS patients, while higher expression of hsa-miR-1304-3p might be related to individual genomic variances due to the heterogeneous background of the Brazilian population.

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables.

The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, aged 7 to 32 years, with a typical ≈3 Mb 22q11.2 deletion, considering intellectual, adaptive, and neuropsychological functioning. Univariate linear regression analysis explored the influence of socioeconomic variables on intellectual quotient (IQ) and global adaptive behavior. Associations with relevant clinical conditions such as seizures, recurrent infections, and heart diseases were also considered. Results showed IQ scores ranging from 42 to 104. Communication, executive functions, attention, and visuoconstructive skills were the most impaired in the sample. The study found effects of access to quality education, family socioeconomic status (SES), and caregiver education level on IQ. Conversely, age at diagnosis and language delay were associated with outcomes in adaptive behavior. This characterization may be useful for better understanding the influence of social-environmental factors on the development of patients with 22q11.2 deletion syndrome, as well as for intervention processes aimed at improving their quality of life.

The effect of coenzyme Q10 on cryotolerance of in vivo-derived mouse embryos.

OBJECTIVE: Cryopreservation has some adverse effects on embryos including cell metabolism reduction, mitochondria and plasma membrane damage, excess production of 'Reactive Oxygen Species' and damage to DNA. In the present study. In this study we assessed the effect of coenzyme Q10 as an exogenous antioxidant on mouse embryos following cryopreservation. METHODS: We collected mice embryos at the morula stage from uterine horns on the third day of gestation. The morulae were divided into 9 groups (1 control, 2 vehicles and 6 experimental), then vitrified. The culture and/or vitrification media of the experimental groups were supplemented by 10 or 30 µM of CoQ10. After one week, the embryos were warmed and then cultured. After 48 hours of embryo culture, the blastocyst rate, total cell number, viability; and after 72 hours of embryo culture, we assessed the hatching rate. RESULTS: Blastocyst rate and hatching rate were significantly reduced in the groups containing 30 µM CoQ10 supplemented culture media compared to other groups (p<0.05). The hatching rate in the groups containing 10 µM CoQ10 supplemented in both culture and vitrification media was significantly higher than in the other groups (p<0.05). In groups containing 10 µM CoQ10 supplemented culture media, the viability was higher than that in the other groups (p<0.05). CONCLUSIONS: It seems that CoQ10 in a dose-dependent manner is able to improve hatching rate and viability following cryopreservation through its antioxidant and anti-apoptotic properties, and through the production of ATP.

Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.

Juvenile idiopathic arthritis is a heterogeneous group of diseases characterized by arthritis with poorly known causes, including monogenic disorders and multifactorial etiology. 22q11.2 proximal deletion syndrome is a multisystemic disease with over 180 manifestations already described. In this report, the authors describe a patient presenting with a short stature, neurodevelopmental delay, and dysmorphisms, who had an episode of polyarticular arthritis at the age of three years and eight months, resulting in severe joint limitations, and was later diagnosed with 22q11.2 deletion syndrome. Investigation through Whole Genome Sequencing revealed that he had no pathogenic or likely-pathogenic variants in both alleles of the MIF gene or in genes associated with monogenic arthritis (LACC1, LPIN2, MAFB, NFIL3, NOD2, PRG4, PRF1, STX11, TNFAIP3, TRHR, UNC13DI). However, the patient presented 41 risk polymorphisms for juvenile idiopathic arthritis. Thus, in the present case, arthritis seems coincidental to 22q11.2 deletion syndrome, probably caused by a multifactorial etiology. The association of the MIF gene in individuals previously described with juvenile idiopathic arthritis and 22q11.2 deletion seems unlikely since it is located in the distal and less-frequently deleted region of 22q11.2 deletion syndrome.

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However, Truncus arteriosus, pulmonary atresia, seizures, and scoliosis were only found in patients with deletions of maternal origin. Also, a slight difference in the frequency of other clinical features between groups of maternal or paternal origin was noted, including congenital heart disease, endocrinological alterations, and genitourinary abnormalities, all of them more common in patients with deletions of maternal origin. Although parental origin of the deletion does not seem to contribute to the phenotypic variability of most clinical signs observed in 22q11.2DS, these findings suggest that patients with deletions of maternal origin could have a more severe phenotype. Further studies with larger samples focusing on these specific features could corroborate these findings.

Exposure of small ruminants and humans to Coxiella burnetii in the semi-arid region of Northeastern Brazil.

Q fever is a zoonotic disease caused by the obligate intracellular pathogen Coxiella burnetii, for which domestic ruminants are the primary source of infection in humans. Herein, we investigated the presence of C. burnetii in humans, sheep, and goats in the semi-arid region of northeastern Brazil. The presence of anti-C. burnetii antibodies was surveyed using indirect immunofluorescence assay, and detection of C. burnetii DNA was performed by polymerase chain reaction (PCR). Anti-C. burnetii antibodies were detected in 60% of farms, 4.8% of goats, 1.5% of sheep, and 4.5% of human samples. PCR was positive in 18.9% of blood samples, 7.7% of milk samples, and 7.7% of vaginal mucus samples. A DNA sequence of a C. burnetii DNA sample extracted from the goat vaginal mucus showed 99.2-99.4% nucleotide identity with other strains previously reported in Brazil. These results indicate that C. burnetii is present in the surveyed area, where it poses a risk to both public and animal health. These findings indicate an urgent need for educative actions to protect population, as well as better training of veterinarians to detect and report Q fever.

Serosurvey of Coxiella burnetii in Police Officers and Working Dogs in Brazil: Case Report and One Health Implications.

BACKGROUND: Although the Coxiella burnetii infection has been investigated in dogs, its role in human transmission remains to be fully established, particularly in close and daily human-dog contact settings, such as in Police K-9 Units. METHODS: Accordingly, this study aimed to assess anti-C. burnetii antibodies in clinically healthy police officers by an in-house indirect immunofluorescence assay (IFA), and working dogs by a commercial IFA Kit, from the State Special Operations Battalion, Paraná, Southern Brazil. RESULTS: Overall, 1/18 (5.5%) police officers and 9/30 (30.0%; CI 95% 16.66-47.88) dogs tested seropositive to anti-C. burnetii IgG antibodies. CONCLUSIONS: To date, this is the highest prevalence of Q fever seropositivity among military dogs worldwide. Despite the low sampling rate, a statistically significant association was found between seropositivity and female dogs (p = 0.0492). Further studies with larger sample sizes should be conducted to establish the prevalence of Q Fever in other Brazilian K-9 Units. In summary, this study is the first to conduct a concomitant serosurvey of police officers and working dogs, and its findings should be considered a warning for cross-exposure and transmission of Coxiella burnetii among Police K-9 Units in Brazil and worldwide.

Influence of Citrus sunki and Poncirus trifoliata Root Extracts on Metabolome of Phytophthora parasitica.

Phytophthora parasitica is an oomycete pathogen that infects a broad range of crops of worldwide economic interest; among them are citrus species. In general, some Citrus and the rootstocks of related genera offer considerable resistance against P. parasitica; therefore, understanding the mechanisms involved in the virulence of this pathogen is crucial. In this work, P. parasitica secondary metabolite production was studied using matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) and ultrahigh-performance liquid chromatography coupled with electrospray ionization quadrupole time-of-flight tandem mass spectrometry (UHPLC/ESI-Q-TOF-MS) combined with chemometric tools, and its metabolic profile was evaluated under the influence of Citrus sunki (a highly susceptible host) and Poncirus trifoliata (a resistant genotype) extracts. The root extracts of Citrus sunki had an influence on the growth and hyphae morphology, and the root extracts of P. trifoliata had an influence on the zoospore behavior. In parallel, the spatial distribution of several metabolites was revealed in P. parasitica colonies using MALDI-MSI, and the metabolite ion of m/z 246 was identified as the protonated molecule of Arg-Ala. The MALDI-MSI showed variations in the surface metabolite profile of P. parasitica under the influence of the P. trifoliata extract. The P. parasitica metabolome analysis using UHPLC-ESI-Q-TOF-MS resulted in the detection of Arg-Gln (m/z 303.1775), as well as L-arginine (m/z 175.1191) and other unidentified metabolites. Significant variations in this metabolome were detected under the influence of the plant extracts when evaluated using UHPLC-ESI-Q-TOF-MS. Both techniques proved to be complementary, offering valuable insights at the molecular level when used to assess the impact of the plant extracts on microbial physiology in vitro. The metabolites identified in this study may play significant roles in the interaction or virulence of P. parasitica, but their functional characterization remains to be analyzed. Overall, these data confirm our initial hypotheses, demonstrating that P. parasitica has the capabilities of (i) recognizing host signals and altering its reproductive programing and (ii) distinguishing between hosts with varying responses in terms of reproduction and the production of secondary metabolites.

The Livestock Frontier in the Paraguayan Chaco: A Local Agent-based Perspective.

Deforestation is one of the most relevant transformations characterizing global environmental change in the tropics at present. There is wide consensus in pointing the context-dependent nature of tropical deforestation. In this sense, a better characterization of the phenomenon considering the social context could provide a more accurate picture of tropical deforestation. With this aim, a Q-methodology discourse analysis was conducted to characterise the different discourses that coexist in the particular region of the Paraguayan Chaco concerning the development of cattle ranching and derived deforestation. Four different discourses were identified as making sense the wide range of interests and values coexisting and clashing in the Paraguayan Chaco, namely: the Environmentalist discourse, the Business discourse, the Resigned discourse, and the Possibilist discourse. The results point that the fundamental differences between the discourses are largely explained by the different positions on three specific domains: (i) the socio-economic benefits the expansion of cattle ranching brings about; (ii) the environmental impacts the expansion of cattle ranching and the derived deforestation brings on; and, finally (iii) the degree to which an active intervention from the side of policy making to regulate the expansion of cattle ranching and to minimize possible detrimental effects is seen as necessary. The position of the different discourses in relation to these domains could help policy makers to make measures and regulations more widely accepted and followed.

Long-Term Satisfaction with Breast Augmentation and Augmentation Mastopexy in the Latin American Population.

OBJECTIVE: The primary objective of this study was to determine the long-term satisfaction levels of women who have undergone breast augmentation and augmentation mastopexy procedures, while identifying the factors influencing patient satisfaction. METHODS: A self-reported retrospective case study design was used to collect data from women with breast implants. The study employed a survey that included demographic information, preoperative diagnosis, implant details, and patient-reported outcomes measured using the Breast-Q Instrument, which evaluates satisfaction with breasts, self-esteem, sexual well-being, and physical symptoms. Statistical analyses were conducted to identify correlations and differences in outcomes between the different variables. RESULTS: The survey was completed by 1022 women from 19 countries, with Chile, Mexico, and Colombia being the most represented. Augmentation was performed on 72.2% of the patients, while 27.7% underwent augmentation mastopexy. Patient satisfaction with breast size and shape varied significantly between the two procedures, with patients undergoing augmentation mastopexy showing less satisfaction. In addition, patients who were unaware of their implant shape or placement reported lower satisfaction scores. The study also found that patient satisfaction decreased over time in the augmentation mastopexy cases and that patients with high body mass index had lower satisfaction. CONCLUSION: Augmentation mastopexy in patients with breast ptosis yields lower satisfaction than augmentation alone. Dissatisfaction escalates with overweight/obesity (BMI), post-surgery time, and misinformation. Implant pocket (pre-vs. subpectoral), shape (round vs. anatomical), and size did not impact satisfaction. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

The landscape of 8q24 cytoband in gastric cancer (Review).

Worldwide, gastric cancer (GC) is estimated to be the fifth most common type of cancer type in both sexes, ranking sixth for new cases, with >640,850 cases per year, and fourth in terms of mortality rate. Cancer presents numerical and structural alterations in chromosomes, often through gains and losses of regions. In GC, there are multiple genetic alterations, in which those located in cytoband 8q24 have been frequently described; essential genes are present in this cytoband, regulating the homeostasis of crucial biological processes, such as the MYC gene, which induces expression of selective genes to promote cell growth and proliferation. Conversely, DNA sequence variations can also occur when a single nucleotide in the genome sequence is altered, and this is termed a single nucleotide polymorphism (SNP). These alterations, which can serve as a biological marker, are present in at least 1% of the population and assist in identifying genes associated with GC. In the present review, 12 genes present in cytoband 8q24 related to GC (NSMCE2, PCAT1, CASC19, CASC8, CCAT2, PRNCR1, POU5F1B, PSCA, JRK, MYC, PVT1 and PTK2) are discussed. The PSCA gene was cited more frequently than others; it has four known SNPs associated with GC (rs2978980, rs2294008, rs2976392 and rs9297976). Thus, these SNPs should be further studied in different populations to determine their risk value in patients with GC.

Novel approach over template molecule elimination in molecularly imprinted polymers by using heat activated persulfate.

This study proposes a new alternative for template removal from molecularly imprinted polymers by heat activated persulfate. It is known that trace amounts of template molecule remains in the polymer network after extraction by current methodologies leading to bleeding and incomplete removal of template which could compromise final determination of target analytes especially in trace analysis. A previously developed molecularly imprinted polymer specially designed for Coenzyme Q10 (CoQ10) extraction was employed as a model to test this template elimination approach. This polymer is based on methacrylic acid and ethylene glycol dimethylacrylate as monomers and Coenzyme Q0 as template. This coenzyme has the same quinone group as the CoQ10. Selectivity was analyzed comparing the recovery of CoQ10 and ubichromenol, a CoQ10 related substance. Chemical degradation using heat-activated persulfate allows the elimination of the template molecule with a high level of efficiency, being a simple and ecological methodology, yielding a polymer that exhibits comparable selectivity and imprinting effect with respect to traditional extraction methods.