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INTRODUCTION: Huntington's disease (HD) is a genetic neurodegenerative disorder with dominant inheritance. Our center in Mexico City has offered presymptomatic testing (PT) since 1995. OBJECTIVE: To describe the main clinical and demographic characteristics of at-risk HD individuals who applied to the PT program, the reasons for seeking it, and the molecular results. METHODS: A cross-sectional study was conducted with sociodemographic and clinical data of all PT applicants from 1995-2023. Reasons for seeking PT were assessed using a modified questionnaire. In addition, anxiety, and depressive symptoms before and after PT were evaluated with Beck's instruments; cognitive impairment (CI) was assessed with the Mini-Mental State Examination (MMSE) and molecular results. RESULTS: 214 people applied for PT (2.1% of the at-risk population identified in our center); 63% were women (mean age of 37.11 years). 204 (95.3%) were accepted and 190 received results. 70% indicated that the main reason for applying for PT was to inform their offspring about the risk of inheriting HD. Significant differences were observed in the reasons for seeking PT by age group. Although some subjects received treatment, Beck's instrument scores did not indicate special attention or pharmacological treatment. The MMSE showed probable CI in 20 subjects. Of those who received results, 37% were carriers of a full penetrance allele. CONCLUSION: Our center has the only formal PT program for HD in Mexico. The reasons for seeking PT are varied and age-related. Although PT is offered to all subjects at risk for HD, uptake remains low.
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Doença de Huntington , Humanos , Doença de Huntington/genética , Doença de Huntington/diagnóstico , Doença de Huntington/epidemiologia , Feminino , Masculino , Adulto , México/epidemiologia , Estudos Transversais , Pessoa de Meia-Idade , Testes Genéticos , Adulto JovemRESUMO
Exposure to heat stress (HS) detrimentally affects pig performance. This study explored whether a dietary phytogenic solution based on Capsicum spp. (PHY) could enhance the thermal tolerance of heat-stressed growing pigs. Forty-two individually housed pigs were randomly assigned to three treatments: thermoneutral pigs on a control diet (TN-C) and pigs subjected to HS fed the control diet either without (HS-C) or with supplemental PHY (HS-PHY). The TN-C group exhibited increased average daily gain (ADG) and feed intake (FI) compared to both HS-C (p < 0.01) and HS-PHY pigs (p < 0.05) and better feed efficiency compared to HS-C pigs only (p < 0.01). However, the HS-PHY pigs showed significantly higher FI (p < 0.01) and ADG (p < 0.05) compared to HS-C pigs. HS pigs displayed higher body temperatures (BTs) than TN pigs (p < 0.01), yet HS-PHY pigs experienced a lesser increase in BT compared to HS-C pigs (p < 0.05). Supplementation with PHY mitigated some effects of HS, increasing serum superoxide dismutase and catalase activity, reducing HSP90 expression in longissimus dorsi muscle, and elevating jejunal villus height compared to HS-C pigs (p < 0.05), reaching levels akin to TN-C pigs. Additionally, PHY supplementation resulted in lower serum urea levels than HS-C pigs (p < 0.01) and similar myosin gene expression to TN-C pigs (p > 0.1), suggesting enhanced amino acid post-absorptive utilization for lean tissue growth. In conclusion, dietary PHY supplementation partially offset the adverse effects of HS on pig performance by improving thermal tolerance.
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Juvenile myoclonic epilepsy (JME) is the most common of the generalized genetic epilepsies, with multiple causal and susceptibility genes; however, its etiopathogenesis is mainly unknown. The toxic effects caused by xenobiotics in cells occur during their metabolic transformation, mainly by enzymes belonging to cytochrome P450. The elimination of these compounds by transporters of the ABC type protects the central nervous system, but their accumulation causes neuronal damage, resulting in neurological diseases. The present study has sought the association between single nucleotide genetic variants of the CYP2C9, CYP2C19, and ABCB1 genes and the development of JME in patients compared to healthy controls. The CC1236 and GG2677 genotypes of ABCB1 in women; allele G 2677, genotypes GG 2677 and CC 3435 in men; the CYP2C19*2A allele, and the CYP2C19*3G/A genotype in both sexes were found to be risk factors for JME. Furthermore, carriers of the TTGGCC genotype combination of the ABCB1 gene (1236/2677/3435) have a 10.5 times higher risk of developing JME than non-carriers. Using the STRING database, we found an interaction between the proteins encoded by these genes and other possible proteins. These findings indicate that the CYP450 system and ABC transporters could interact with other genes in the JME.
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Epilepsia Generalizada , Epilepsia Mioclônica Juvenil , Masculino , Humanos , Feminino , Epilepsia Mioclônica Juvenil/genética , Citocromo P-450 CYP2C9/genética , Citocromo P-450 CYP2C19/genética , Genótipo , Subfamília B de Transportador de Cassetes de Ligação de ATP/genéticaRESUMO
Exposing pigs to heat stress (HS) provokes higher death of intestinal cells, resulting in elevated endogenous intestinal losses (EIL) of amino acids (AA) and damage to intestinal epithelia. Arginine (Arg) is precursor for the synthesis of polyamines, which are involved in proliferation of intestinal cells and restoration of the intestinal epithelia. Thus the effect of adding L-Arg to diets for HS pigs on the EIL of AA was analyzed. Twelve pigs (23.1 ± 1.1 kg body weight) implanted with T-type cannulas at the end of ileum were individually housed and allowed 15-days for surgery recovery under thermoneutral (TN) conditions (22 ± 2 °C). Following, the pigs were randomly assigned to one of three treatments: TN pigs fed a semi-purified, corn starch-3% casein basal diet (TN-B); HS pigs with the basal diet (HS-B); HS pigs consuming the basal diet supplemented with 0.20% L-Arg (HS-Arg). The experiment consisted of two 9-day periods; each period included 7-days of adaptation to their respective diet, followed by a 2-day ileal digesta collection period. Digesta was collected during 12 consecutive hours each day. The pigs were fed twice a-day. Ambient temperature (AT) inside the TN and HS rooms ranged from 18.6 to 27.6 °C and from 29.5 to 40.7 °C, respectively. Body temperature followed a pattern similar to that of AT. The daily EIL of indispensable AA increased (P < 0.01) in the HS-B pigs compared to both the TN-B and the HS-Arg pigs, however, there was no EIL difference between the TN-B and the HS-Arg pigs (P > 0.05). Likewise, with the exception of serine, daily losses of endogenous dispensable AA in the HS-B pigs were higher (P < 0.01) in comparison with those of TN-B and HS-Arg pigs. In summary, HS exposure compared to TN conditions increases the loss of endogenous AA, but dietary supplementation with L-Arg helped to counteract the negative HS effect.
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Aminoácidos , Transtornos de Estresse por Calor , Animais , Aminoácidos/metabolismo , Ração Animal/análise , Arginina/farmacologia , Suplementos Nutricionais , Transtornos de Estresse por Calor/prevenção & controle , Transtornos de Estresse por Calor/veterinária , Transtornos de Estresse por Calor/metabolismo , Resposta ao Choque Térmico , SuínosRESUMO
BACKGROUND: People with epilepsy (PWE) have been subject to stigma throughout history, a factor that could compromise their performance in daily life. In Mexico, little is known about the factors that may be affecting internalized stigma. OBJECTIVE: To evaluate the internalized stigma in adult PWE, its relationship with the quality of life, cognitive and depressive symptomatology, and clinical-demographic characteristics. MATERIAL AND METHODS: We conducted a cross-sectional study with a consecutive sampling approach in patients with epilepsy treated at the National Institute of Neurology and Neurosurgery Manuel Velasco Suárez (NINNMVS). Sociodemographic and clinical data, depressive symptomatology (Beck's depression inventory, DBI), cognition (MoCA test), quality of life (QOLIE-31 scale), and internalized stigma (King's internalized stigma scale, ISS) were evaluated. Correlations were made between the continuous variables and the ISS to select those with statistical significance and include them in a multiple linear regression model, along with the dummy variables, to explain internalized stigma. RESULTS: Of 128 patients, 74 (58%) were women; 38% of the patients had more than 20 years of epilepsy evolution. In addition, 39% presented depressive symptoms, and around 60% manifested a possible cognitive impairment. The variables that showed statistical significance concerning the ISS were selected along with dummy variables for multiple linear regression analysis. The resultant model considers the QOLIE-31 total score (ß = -0.489), the number of anti-seizure drugs (ASD, ß = 0.253), and those patients without caregiver support (ß = -0.166) with an adjusted R2 value of 0.316. CONCLUSIONS: A diminishing quality of life, an increased number of ASD, and patients without caregiver support influence a slight to moderate variation of internalized stigma in Mexican PWE. Therefore, it is necessary to continue studying other possible factors that influence internalized stigma to generate effective strategies to reduce its negative effects on PWE.
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Epilepsia , Qualidade de Vida , Humanos , Adulto , Feminino , Masculino , Qualidade de Vida/psicologia , México , Estudos Transversais , Cuidadores/psicologia , Estigma Social , Epilepsia/psicologiaRESUMO
BACKGROUND AND PURPOSE: Juvenile-onset Huntington disease (JHD) is defined when symptoms initiate before 20 years of age. Mechanisms explaining differences between juvenile and adult onset are not fully understood. Our aim was to analyze the distribution of initial symptoms in a cohort of JHD patients and to explore its relationship with CAG expansion and relative telomere length (RTL). METHODS: A total of 84 JHD patients and 54 neurologically healthy age and sex matched individuals were recruited. CAG length was measured by southern blot or triplet repeat primed polymerase chain reaction. RTL was measured using the Cawthon method. RESULTS: Psychiatric symptoms were most frequent when considering the entire cohort. When divided into onset before or after 10 years, cognitive symptoms were more frequent in the youngest, whilst in the older group psychiatric symptoms prevailed. Motor symptoms were rare in the youngest and epilepsy was observed only in this group as well as a larger CAG expansion. RTL analysis revealed shorter telomeres in JHD patients compared to controls. This difference is not influenced by age, initial symptoms, time of disease or CAG expansion. CONCLUSIONS: To the best of our knowledge this is the largest cohort of JHD patients reported. Psychiatric manifestations deserve special attention when JHD is suspected and epilepsy is especially important in the youngest patients. Initial symptoms seem to be influenced by CAG expansion and therefore age of onset. RTL is significantly reduced in JHD patients which can influence the characteristic neurodegeneration of JHD and contribute to the clinical discrepancy between adult and juvenile forms of Huntington disease.
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Doença de Huntington , Adulto , Humanos , Doença de Huntington/genética , Doença de Huntington/diagnóstico , Repetições de Trinucleotídeos/genética , Telômero , Idade de InícioRESUMO
Introducción: la perfusión miocárdica mediante SPECT gatillado (tomografía computarizada de emisión de fotón único) y análisis de fase permiten evaluar la disincronía mecánica y la fracción de eyección, indicando quienes podrían responder a la terapia de resincronización cardíaca. Objetivo: describir la frecuencia de disincronía miocárdica y su relación con los resultados del SPECT en el Hospital de San José de Bogotá entre mayo 2018 y febrero 2019. Metodología: estudio transversal en mayores de 18 años, con electrocardiograma de no más de 6 meses y SPECT gatillado. Para la información sociodemográfica, antecedentes cardíacos, parámetros de electrocardiograma y resultados del SPECT se empleó estadística descriptiva y análisis de correspondencias múltiples. Resultados: se incluyeron 539 pacientes con edad promedio de 68 años, 59.8% con sobrepeso y obesidad, 47.7% en clase funcional NYHA (New York Heart Association) III y IV, 48.4% fumadores y 26.9% diabéticos; 48.1% tenían cateterismo cardíaco y 45.3% infarto agudo de miocardio; en 31% la fracción de eyección del ventrículo izquierdo < 50%. La disincronía se determinó con un ancho de banda >135°; hubo disincronía en 202 pacientes (37.5%) que se relacionó con: género masculino, sobrepeso, diabetes, tabaquismo, infarto agudo del miocardio, colocación de stent, fracción de eyección del ventrículo izquierdo <40% o entre 40%-50% y dilatación isquémica transitoria (TID) >1.22 o entre 1.12-1.22. Discusión y conclusiones: el uso de la nueva herramienta del análisis de fase de medicina nuclear es factible y útil para determinar los pacientes respondedores a la terapia de resincronización cardíaca.
Introduction: Myocardial perfusion gated SPECT (simple photon emission computed tomography) with phase analysis allows the assessment of mechanical dyssynchrony and ejection fraction, for prediction of response to cardiac resynchronization therapy. Objective: to describe myocardial dyssynchrony frequency and its relationship with SPECT results at Hospital de San José de Bogotá between May 2018 and February 2019. Methodology: cross-sectional study in patients aged over 18 years, with a less than 6 months electrocardiogram and gated SPECT. Sociodemographic data, cardiovascular history, electrocardiogram parameters and SPECT results were evaluated using descriptive statistics and multiple correspondence analysis. Results: five-hundred-thirty-nine patients with a mean age of 68 years were included, 59.8% had overweight and obesity, 47.7% were NYHA (New York Heart Association) functional class III and IV, 48.4% smokers and 26.9% diabetics; 48.1% received cardiac catheterization and 45.3% had history of acute myocardial infarction; left ventricular ejection fraction was < 50% in 31%. Dyssynchrony was determined with a >135° bandwidth; dyssynchrony was evidenced in 202 patients (37.5%) and was related to male gender, overweight, diabetes, smoking, acute myocardial infarction, stent placement, left ventricular ejection fraction <40% or 40%-50% and transient ischemic dilation (TID) >1.22 or 1.12-1.22. Discussion and conclusions: the new nuclear medicine phase analysis tool is feasible and useful to identify cardiac resynchronization therapy responders.
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HumanosRESUMO
The effect of short- and long-term exposure to heat stress (HS) was analyzed on blood components, performance, and intestinal epithelium integrity of pigs. Eighteen pigs (36.0 ± 3.5 kg BW) were assigned to three groups: thermo-neutral (TN); 2 d exposure to HS (2dHS); and 7 d exposure to HS (7dHS). Blood chemistry and hemogram analyses were performed; small intestine samples were analyzed for mRNA expression and histology. Compared to TN, 2dHS and 7dHS pigs reduced weight gain and feed intake; weight gain was higher in 7dHS than in 2dHS pigs (p < 0.05). White blood cells, platelet, and hematocrit were affected in 2dHS and 7dHS compared to TN pigs (p < 0.05). Short- and long-term exposure to HS affected blood concentration of triglycerides, urea, total protein, and albumin (p ≤ 0.05). Villi-height and crypt-depth decreased in HS pigs (p < 0.01). Mucin-producing and apoptotic cell number increased in 7dHS compared to TN pigs (p < 0.05). Expression of tight-junction-proteins decreased in 2dHS pigs compared to TN and 7dHS pigs (p < 0.05). Short-term exposure of pigs to HS dramatically affects performance, blood components, and integrity of the small intestine epithelia; nevertheless, pigs show signs of recovery at 7 d of HS exposure.
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INTRODUCTION: There are reports of different clinical statuses in carriers of intermediate alleles (IAs) of CAG trinucleotide repeats in the HTT gene, from individuals affected by a clinical picture indistinguishable from Huntington's disease (HD) to those without manifestations. Therefore, the possible clinical significance of these alleles has been widely debated. OBJECTIVES: The aim of this study was to describe general and clinical features and discard HD phenocopies by molecular assessment in a case series of IA carriers on the HTT gene of a laboratory sample from a neurological center in Mexico. METHODS: We selected individuals who had previously been tested for the HTT gene expansion, which resulted in IAs. Clinical information was obtained from medical records, and molecular analysis of the JPH3, PRNP, and TBP genes was performed only in IA carriers with clinical manifestations. In addition, two patients with IA and acanthocytes were evaluated by whole-exome sequencing. The scientific and ethical committees of the National Institute of Neurology and Neurosurgery Manuel Velasco Suárez (NINNMVS) approved this study. RESULTS: From 1994 to 2019, the Genetics Department of the NINNMVS confirmed 34 individuals with IAs, 15 of whom belonged to 11 families with HD (IA-HD) and 19 of whom had no family history of HD (IA-non-HD). We found a high proportion of manifestations of the HD phenotypic spectrum in the IA-non-HD subgroup. In addition, among the 20 samples of IA carriers with manifestations molecularly evaluated, we identified two unrelated subjects with CAG/CTG repeat expansions on the JPH3 gene, confirming HD-like 2 (HDL2), and one patient with the homozygous pathogenic c.3232G>T variant (p.Glu1078Ter) in the VPS13A gene, demonstrating choreoacanthocytosis. DISCUSSION/CONCLUSION: Our results show the most extensive series of subjects with IAs and clinical manifestations. In addition, we identify three HD phenocopies, two HDL2 cases, and one choreoacanthocytosis case. Therefore, we emphasize evaluating other HD phenocopies in IA carriers with clinical manifestations whose family background is not associated with HD.
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Doença de Huntington , Neuroacantocitose , Humanos , Proteína Huntingtina/genética , Alelos , Expansão das Repetições de Trinucleotídeos/genética , Neuroacantocitose/genética , México , Doença de Huntington/genética , Doença de Huntington/epidemiologiaRESUMO
The neotropical region ranks third in the number of termites and includes five different families. Of these, Termitidae is the most diverse and includes the species Nasutitermes ephratae, which is widespread in the neotropics. To date, only one study has been published about phylogeography in neotropical termites (N. corniger). Here, we explored the population genetic patterns of N. ephratae and also evaluated the phylogeographical processes involved in the evolutionary history of the species. We used the mitochondrial genes 16S rRNA and COII as molecular markers: these were sequenced for 128 samples of N. ephratae. We estimated the genetic diversity and divergence time as well as the demography and genetic structure. We also performed an ancestral area reconstruction and a haplotype network. The results showed high genetic variability, recent demographic expansion, and strong genetic structure. A dispersal route for the species, that occurred in both directions between South and Central America, was inferred. The results emphasize a temporary separation between the South and Central America populations that affected the origin of the current Central America populations. These populations were formed from different phylogeographic histories.
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Isópteros , Animais , Evolução Biológica , DNA Mitocondrial/genética , Variação Genética , Genética Populacional , Humanos , Isópteros/genética , Filogenia , Filogeografia , RNA Ribossômico 16S/genéticaRESUMO
Currently, there is limited insight on the role that scientific diasporas can play in STEAM education in Latin America. Here, we present the Science Clubs Colombia (Clubes de Ciencia Colombia-SCC) program, a pioneering STEAM capacity-building initiative led by volunteer scientists to engage youth and children from underserved communities in science. The program brings together researchers based in Colombia and abroad to lead intensive project-based learning workshops for young students in urban and rural areas. These projects focus on channeling the students' technical and cognitive scientific aptitudes to tackle challenges of both local and global relevance. The program provides high-quality STEAM education adapted to communities' needs and articulates long-lasting international collaborations using the mobility of the Colombian diaspora. The program's success is tangible via its sustained growth and adaptability. Since its first version in 2015, 722 volunteer scientists living abroad or in Colombia have collaborated to create 364 clubs with the participation of 9,295 students. We describe elements of the SCC program that lead to a scalable and reproducible outcome to engage science diasporas in STEAM education. Additionally, we discuss the involvement of multiple stakeholders and the generation of international networks as potential science diplomacy outcomes. The SCC program strengthens the involvement of Latin American youth in science, demonstrates the potential of engaging scientific diasporas in science education, and enriches connections between the Global South and the Global North.
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Background: Pachygenium embraces a group of terrestrial species formerly placed in Pelexia sensu lato. The genus currently comprises some 60 species, most of which are known from the southern parts of Brazil and Paraguay, with few species distributed in the Andean countries-only four species have been recorded from Argentina so far. In Jujuy Province, Argentina a new species of Pachygenium was found during our fieldwork. The aim of this article was to provide morphological and molecular evidence for its membership in this genus. Methods: Materials from specimens were collected in the field and examined by classical taxonomic and molecular biological techniques, e.g., PCR and sequencing DNA. Phylogenetic reconstruction was performed by maximum-likelihood and Bayesian inference. Results: Pachygenium laurense from Argentina is described and illustrated based on morphological evidence and its taxonomic position was confirmed by phylogenetic analyses. A new combination for Pachygenium gutturosa is also proposed. A key for identification is provided for the Pachygenium species occurring in Argentina. Conclusion: Pachygenium laurense is the fifth species of the genus recorded from Argentina.
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Orchidaceae , Filogenia , Orchidaceae/anatomia & histologia , Argentina , Teorema de Bayes , DNA de Plantas/análiseRESUMO
Paraphasma Redtenbacher, 1906 is a genus of fully-winged stick insects occurring in central and northern South America. We carried out a morphology-based taxonomic revision of this genus with emphasis on the phallic organ, a structure that has been poorly explored for taxonomic purposes in Phasmatodea. Additionally, pairwise genetic distances between mitochondrial COI gene sequences were calculated for ten Paraphasma specimens representing six species. We recognize nine valid species in the genus plus one nomen dubium, Paraphasma fasciatum Gray, 1835. We redescribe Paraphasma and the species previously assigned to it, describe Paraphasma indistinctum Chiquetto-Machado sp. nov., Paraphasma sooretama Chiquetto-Machado sp. nov. and Paraphasma spinicauda Chiquetto-Machado sp. nov., and provide a key to the species in the genus. The male of Paraphasma minus Redtenbacher, 1906 is described for the first time, as well as the eggs of six species. We transfer Paraphasma amabile Redtenbacher, 1906 to Pseudophasma Kirby, 1896 (comb. nov.) and synonymize Pseudophasma xanthotaenidium Gnther, 1930 under this species (syn. nov.). In addition, Phasma perspicillaris Stoll, 1813 is removed from the synonymy of Paraphasma laterale (Fabricius, 1775) and synonymized under Parastratocles xanthomela (Olivier, 1792) (syn. nov.). The examination of the phallic organ was essential for species delimitation, as most species of Paraphasma are very similar in the external morphology of both sexes. The analysis of the COI sequences supported the species delimitation, resulting in remarkably lower pairwise distances between conspecific individuals (p-distance 2.0%) than between different species (p-distance 6.917.5%). We hope that this paper will stimulate further studies exploring the taxonomic and phylogenetic potential of the internal male genitalia of stick insects.
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Genes Mitocondriais , Neópteros , Animais , Feminino , Masculino , FilogeniaRESUMO
La evidencia sugiere que la exposición a sustancias psicoactivas se relaciona con alteraciones en la espermatogénesis que afectan la calidad espermática. El objetivo de este trabajo fue determinar los parámetros espermáticos en consumidores habituales de cigarrillos de marihuana. Se analizaron muestras seminales de 42 consumidores activos de cigarrillos de marihuana y de 16 voluntarios no consumidores de marihuana. Mediante un análisis de semen, se determinaron los parámetros seminales convencionales (viabilidad, movilidad, morfología, y concentración de los espermatozoides) siguiendo los lineamientos establecidos por la Organización Mundial de la Salud (OMS). Adicionalmente, se evaluó la capacidad antioxidante del plasma seminal mediante la determinación del porcentaje de inhibición del radical estable 1,1-difenil-2-picril-hidracilo. Los valores de la mediana de los consumidores respecto al grupo control fueron: volumen 2,98 mL versus 3,95 mL (p = 0,0221); concentración total 189 millones/mL versus 291,1 millones/mL (p = 0,0636); movilidad progresiva 50% versus 56,5% (p = 0,0052); viabilidad 65,3% versus 73,1% (p = 0,0732); y morfología normal 5% versus 7% (p = 0,0167), respectivamente. Los resultados obtenidos en este estudio indican que el consumo de cigarrillos de marihuana afecta negativamente la movilidad progresiva, la morfología normal y la concentración total de espermatozoides; además, la concentración total de espermatozoides está afectada por la frecuencia del consumo de cigarrillos de marihuana.
Evidence suggests that exposure to psychoactive substances is related to spermatogenesis alterations that affect sperm quality. The objective of the present work was to determine sperm parameters in regular users of marijuana cigarettes. Seminal samples from 42 active consumers of marijuana cigarettes and 16 volunteer non-marijuana users were analyzed. Through a semen analysis, we identify conventional seminal parameters (viability, motility, morphology, and sperm concentration) according to the guidelines established by the World Health Organization (WHO). The antioxidant effect of the seminal plasma was evaluated through the determination of the percentage of inhibition of the stable radical 1,1-diphenyl-2-picrylhydrazyl. The median values of consumers with respect to the control group were respectively: volume 2.98 mL versus 3.95 mL (p = 0.0221); total concentration 189 million/mL versus 291.1 million/mL (p = 0.0636); progressive motility 50% versus 56.5% (p = 0.0052); viability 65.3% versus 73.1% (p = 0.0732); and normal morphology 5% versus 7% (p = 0.0167). The results obtained in the present study indicate that the consumption of marijuana cigarettes negatively affects progressive motility, normal morphology, and total sperm concentration. In addition, the total sperm concentration is affected by the frequency of consumption of marijuana cigarettes
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Humanos , Masculino , Espermatozoides , Uso da Maconha , Padrões de Referência , Sêmen , Espermatogênese , Análise do Sêmen , Produtos do Tabaco , AntioxidantesRESUMO
SUMMARY Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors that result in the uncontrolled release of catecholamines and secondary hypertension. They usually manifest with episodic blood pressure fluctuations, headaches and palpitations. In some cases PPGLs may be asymptomatic until they are detected as a diagnostic approach to other diseases. There have been reports that have associated PPGLs with arterial thrombosis, some with the additional finding of intracardiac thrombi. We present the case of a 21-year-old male Hispanic patient with a recurrent para-aortic paraganglioma detected by persistent hypertension, bilateral lower limb artery thrombosis and an intracardiac thrombus.
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Humanos , Masculino , Adulto , Adulto Jovem , Paraganglioma/complicações , Feocromocitoma , Trombose/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais , Recidiva Local de NeoplasiaRESUMO
Huntington disease (HD) is the most common neurogenetic disorder caused by expansion of the CAG repeat in the HTT gene; nevertheless, the molecular bases of the disease are not fully understood. Non-coding RNAs have demonstrated to be involved in the physiopathology of HD. However, the role of circRNAs has not been investigated. The aim of this study was to identify the circRNAs with differential expression in a murine cell line model of HD and to identify the biological pathways regulated by the differentially expressed circRNAs. CircRNA expression was analyzed through a microarray, which specifically detects circular species of RNA. The expression patterns between a murine cell line expressing mutant Huntingtin and cells expressing wild-type Huntingtin were compared. We predicted the miRNAs with binding sites for the differentially expressed circRNAs and the corresponding target genes for those miRNAs. Using the target genes, we performed a function enrichment analysis. We identified 23 circRNAs differentially expressed, 19 downregulated and four upregulated. Most of the downregulated circRNAs derive from the Rere gene. The dopaminergic synapse, MAPK, and long-term depression pathways were significantly enriched. The three identified pathways have been previously associated with the physiopathology of HD. The understanding of the circRNA-miRNA-mRNA network involved in the molecular mechanisms driving HD can lead us to identify novel biomarkers and potential therapeutic targets. To the best of our knowledge, this is the first study analyzing circRNAs in a model of Huntington disease.
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Neurônios Dopaminérgicos/metabolismo , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Doença de Huntington/metabolismo , Depressão Sináptica de Longo Prazo/fisiologia , RNA Circular/metabolismo , Sinapses/metabolismo , Animais , Regulação para Baixo , Perfilação da Expressão Gênica , Doença de Huntington/fisiopatologia , MicroRNAs/metabolismo , Células PC12 , RNA Mensageiro/metabolismo , RatosRESUMO
BACKGROUND: The co-transformation of solid waste of natural and anthropogenic origin can be carried out through solid-state-fermentation systems to obtain bio-products with higher added value and lower environmental impact. METHODS: To evaluate the effect of Pleurotus ostreatus on co-transformation of oxo-degradable low-density polyethylene (LDPEoxo) sheets and lignocellulosic biomass (LCB), were assembled two 0.75 L microcosm systems in vertical (VMS) and horizontal (HMS) position. The pre-treated sheets with luminescent O2 plasma discharges were mixed with pine bark, hydrolyzed brewer's yeast and paper napkin fragments and incubated for 135 days at 20 ± 1.0 °C in the presence of the fungus. With the co-transformation residues, biochar (BC) was produced at 300 ± 1.0 °C (BC300) for 1 h, then used to carry out adsorption studies, using the malachite green dye (MG) at pH 4.0, 7.0 and 9.0 ± 0.2. Finally, the biochar was the substrate for the germination of carnation seeds (Dianthus caryophyllus) and Ray-grass (Lolium sp.) in vitro. RESULTS: For HMS, the decrease in static contact angle (SCA) was 63.63% (p = 0.00824) and for VMS 74.45% (p = 0.00219), concerning the pristine. Plastic roughness in VMS was higher (26%) concerning the control. Throughout the 135 days, there were fungal growth and consequently laccase (Lac), manganese peroxidase (MnP) and lignin peroxidase (LiP) activities. During the first 75 days, CO2 production increased to 4.78 ± 0.01 and 4.98 ± 0.01 mg g-1 for HMS and VMS, respectively. In MG adsorption studies, the highest amount of the colourant adsorbed at both pH 4.0 and 7.0 ± 0.2. CONCLUSIONS: Finally, the biochar or the biochar enriched with low concentrations of plant growth-promoting microorganisms and inorganic fertilizer favours the germination of Dianthus caryophyllus and Lolium sp., seeds.
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Liquid waste from biological stains is considered non-domestic wastewater difficult to treat, generating high environmental impact. Therefore, the objective of this work was to carry out secondary and tertiary treatment of these effluents at a pilot scale, using a fungal/bacterial consortium followed by Chorella sp., for 15 days. In addition, to obtain an adsorbent material for Malachite Green dye removal, sludge generated in the plant and pine bark co-pyrolysis was performed. For microalgae isolation and selection of the Chlorophyceae class, Chlorococcales order, and Chorella sp. genus Winogradsky columns were employed. After 15 days of pilot plant treatment, removal percentages of 91 ± 2%, 90 ± 4% and 17 ± 2% were obtained for Colour Units, Chemical Oxygen Demand and Nitrates, respectively. Two types of class II biochar (BC500 and BC700) and one of class III (BC300) were produced. The highest value for Fixed carbon (FC) was obtained at 300 °C (27.3 ± 3%), decreasing as the temperature increased by 25.9 ± 5% and 24.8 ± 2%, for BC500 and BC700, respectively. Biochar yield was 62.1 ± 3%, 46.3 ± 4% and 31.6 ± 3% for BC300, BC500 and BC700, respectively. Finally, BC500 and BC700 biochar efficiently adsorbed Malachite Green obtaining qe values of 0.290 ± 0.032, 0.281 ± 0.015, 0.186 ± 0.009 and 0.191 ± 0.012 mg g-1 at pH values of 4.0 and 8.0 ± 0.2, respectively. Pseudo-second order model demonstrated a chemical adsorption took place, which was influenced by pH. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s13205-021-02780-1.
RESUMO
Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors that result in the uncontrolled release of catecholamines and secondary hypertension. They usually manifest with episodic blood pressure fluctuations, headaches and palpitations. In some cases PPGLs may be asymptomatic until they are detected as a diagnostic approach to other diseases. There have been reports that have associated PPGLs with arterial thrombosis, some with the additional finding of intracardiac thrombi. We present the case of a 21-year-old male Hispanic patient with a recurrent para-aortic paraganglioma detected by persistent hypertension, bilateral lower limb artery thrombosis and an intracardiac thrombus.
Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Trombose , Adulto , Humanos , Masculino , Recidiva Local de Neoplasia , Paraganglioma/complicações , Trombose/diagnóstico por imagem , Adulto JovemRESUMO
Habitat loss is the main threat to biodiversity conservation worldwide. Some species may be particularly susceptible to the effects of fragmentation and the isolation of populations. The impacts of human activity on wild animal populations may be understood through relationships between individual genetic data and spatial landscape variables, particularly when considering local population dynamics influenced by fragmented habitats. Thus, the objective of this study was to analyze the population structure and genetic diversity of the giant anteater (Myrmecophaga tridactyla) using an individual sampling scheme (ISS) on a regional geographic scale. Data were collected from 41 specimens from twenty different locations in São Paulo State, Brazil, and six polymorphic microsatellite loci were genotyped. Our results indicate that barriers to gene flow exist and have segregated individuals of the farther away areas into two spatially structured clusters. The populations were also found to have high genetic diversity. The experimental sampling approach used herein enabled an analysis of the population dynamics of the giant anteater on a regional scale, as well as the identification of priority populations for genetic resource conservation for this species. The results reflect the need for adequate management plans. The efficacy of the sampling scheme may vary based on the study model used, but we argue that the use of an ISS combined with suitable molecular markers and statistical methods may serve as an important tool for initial analyses of threatened or vulnerable species, particularly in anthropized regions where populations are small or hard to characterize.