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Trisomy X is the most frequent sex chromosome anomaly in women, but it is often underdiagnosed postnatally because most patients do not show any clinical manifestation. It is estimated that only 10% of patients with trisomy X are diagnosed by clinical findings. Thus, it has been proposed that the clinical spectrum is not yet fully delimited, and additional uncommon or atypical clinical manifestations could be related to this entity. The present report describes a female carrying trisomy X but presenting atypical manifestations, including severe intellectual disability, short stature, thymus hypoplasia, and congenital hypothyroidism (CH). These clinical findings were initially attributed to trisomy X. However, chromosome microarray analysis (CMA) subsequently revealed that the patient also bears a heterozygous 304-kb deletion at 16p11.2. This pathogenic copy-number variant (CNV) encompasses 13 genes, including TUFM. Some authors recommend that when a phenotype differs from that described for an identified microdeletion, the presence of pathogenic variants in the non-deleted allele should be considered to assess for an autosomal recessive disorder; thus, we used a panel of 697 genes to rule out a pathogenic variant in the non-deleted TUFM allele. We discuss the possible phenotypic modifications that might be related to an additional CNV in individuals with sex chromosome aneuploidy (SCA), as seen in our patient. The presence of karyotype-demonstrated trisomy X and CMA-identified 16p11.2 deletion highlights the importance of always correlating a patient's clinical phenotype with the results of genetic studies. When the phenotype includes unusual manifestations and/or exhibits discrepancies with that described in the literature, as exemplified by our patient, a more extensive analysis should be undertaken to enable a correct diagnosis that will support proper management, genetic counseling, and medical follow-up.
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Aberrações dos Cromossomos Sexuais, Trissomia, Humanos, Feminino, Trissomia/diagnóstico, Trissomia/genética, Deleção Cromossômica, Fenótipo, CariótipoRESUMO
The blood-brain barrier is the interface through which the brain interacts with the milieu and consists mainly of a sophisticated network of brain endothelial cells that forms blood vessels and selectively moves molecules inside and outside the brain through multiple mechanisms of transport. Although brain endothelial cell function is crucial for brain homeostasis, their role in neurodegenerative diseases has historically not been considered with the same importance as other brain cells such as microglia, astroglia, neurons, or even molecules such as amyloid beta, Tau, or alpha-synuclein. Alzheimer's disease is the most common neurodegenerative disease, and brain endothelial cell dysfunction has been reported by several groups. However, its impairment has barely been considered as a potential therapeutic target. Here we review the most recent advances in the relationship between Alzheimer's disease and brain endothelial cells commitment and analyze the possible mechanisms through which their alterations contribute to this neurodegenerative disease, highlighting their inflammatory phenotype and the possibility of an impaired secretory pattern of brain endothelial cells that could contribute to the progression of this ailment. Finally, we discuss why shall brain endothelial cells be appreciated as a therapeutic target instead of solely an obstacle for delivering treatments to the injured brain in Alzheimer's disease.
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Dopamine (DA) and dopamine agonists (DA-Ag) have shown antiangiogenic potential through the vascular endothelial growth factor (VEGF) pathway. They inhibit VEGF and VEGF receptor 2 (VEGFR 2) functions through the dopamine receptor D2 (D2R), preventing important angiogenesis-related processes such as proliferation, migration, and vascular permeability. However, few studies have demonstrated the antiangiogenic mechanism and efficacy of DA and DA-Ag in diseases such as cancer, endometriosis, and osteoarthritis (OA). Therefore, the objective of this review was to describe the mechanisms of the antiangiogenic action of the DA-D2R/VEGF-VEGFR 2 system and to compile related findings from experimental studies and clinical trials on cancer, endometriosis, and OA. Advanced searches were performed in PubMed, Web of Science, SciFinder, ProQuest, EBSCO, Scopus, Science Direct, Google Scholar, PubChem, NCBI Bookshelf, DrugBank, livertox, and Clinical Trials. Articles explaining the antiangiogenic effect of DA and DA-Ag in research articles, meta-analyses, books, reviews, databases, and clinical trials were considered. DA and DA-Ag have an antiangiogenic effect that could reinforce the treatment of diseases that do not yet have a fully curative treatment, such as cancer, endometriosis, and OA. In addition, DA and DA-Ag could present advantages over other angiogenic inhibitors, such as monoclonal antibodies.
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Endometriose, Neoplasias, Osteoartrite, Feminino, Humanos, Agonistas de Dopamina/farmacologia, Dopamina/metabolismo, Receptor 2 de Fatores de Crescimento do Endotélio Vascular/metabolismo, Endometriose/tratamento farmacológico, Fator A de Crescimento do Endotélio Vascular/metabolismo, Inibidores da Angiogênese/farmacologia, Inibidores da Angiogênese/uso terapêutico, Neoplasias/metabolismo, Adjuvantes Imunológicos/uso terapêutico, Osteoartrite/tratamento farmacológico, Neovascularização Patológica/tratamento farmacológico, Neovascularização Patológica/metabolismoRESUMO
Dopamine (DA), its derivatives, and dopaminergic drugs are compounds widely used in the management of diseases related to the nervous system. However, DA receptors have been identified in nonneuronal tissues, which has been related to their therapeutic potential in pathologies such as sepsis or septic shock, blood pressure, renal failure, diabetes, and obesity, among others. In addition, DA and dopaminergic drugs have shown anti-inflammatory and antioxidant properties in different kinds of cells. AIM: To compile the mechanism of action of DA and the main dopaminergic drugs and show the findings that support the therapeutic potential of these molecules for the treatment of neurological and non-neurological diseases considering their antioxidant and anti-inflammatory actions. METHOD: We performed a review article. An exhaustive search for information was carried out in specialized databases such as PubMed, PubChem, ProQuest, EBSCO, Scopus, Science Direct, Web of Science, Bookshelf, DrugBank, Livertox, and Clinical Trials. RESULTS: We showed that DA and dopaminergic drugs have emerged for the management of neuronal and nonneuronal diseases with important therapeutic potential as anti-inflammatories and antioxidants. CONCLUSIONS: DA and DA derivatives can be an attractive treatment strategy and a promising approach to slowing the progression of disorders through repositioning.
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The present article examines the impact of intellectual property (IP) utilization and concentration on economic growth in Mexico. The findings presented center on the use of different forms of IP by researchers in the National System of Researchers (SNI in Spanish) of Mexico. We focus especially on the externalities associated with the use of IP by researchers, as well as on understanding how knowledge about, and utilization of IP relates to economic growth, as measured by gross domestic product (GDP). The results of our analyses indicate that in the context of the Mexican SNI, the utilization of certain forms of IP, specifically patents and industrial designs, had a positive impact on economic growth, while the use of utility models was negatively linked to drivers of growth. Policies based on these results could seek to foster awareness and utilization of particular forms of IP by SNI researchers, which in turn could result in greater economic growth in Mexico.
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Propriedade Intelectual, Conhecimento, Pesquisadores, Humanos, MéxicoRESUMO
BACKGROUND: Stroke is a worldwide leading cause of mortality and disability, and there are substantial economic costs for poststroke care. Disadvantaged populations show increased incidence, severity, and unfavorable outcomes. This study aimed to report the survival, functional outcome, and caregiver satisfaction of low-income patients diagnosed with a large hemispheric infarction (LHI) who underwent decompressive craniectomy (DC). METHODS: A retrospective analysis was conducted in consecutive adult patients with an LHI who underwent DC at a single center between October 2015 and September 2019. Demographic, clinical, and radiologic data were reviewed. The primary outcomes were 1-year survival and favorable functional outcome. RESULTS: Forty-nine patients were included; those <60 years of age showed a higher proportion of favorable functional outcomes (76% vs. 33%; P = 0.031) but similar survival (52% vs. 56%; P = 0.645) than older patients, respectively. Performing the craniectomy in <48 hours from stroke onset compared with ≥48 hours showed no statistically significant differences in survival (59% vs. 46%; P = 0.352) and favorable functional outcomes (56% vs. 70%; P = 0.683), respectively. In retrospective thinking, 79% of caregivers would decide to perform the surgery again. CONCLUSIONS: Age group and time from stroke onset to craniectomy were not associated with survival; notwithstanding, a higher proportion of patients <60 years of age were associated with a favorable functional outcome compared with older patients. Additionally, if given the option, most caregivers would decide to perform the surgery again, independently of the grade of disability of the patient.
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Infarto Cerebral/economia, Infarto Cerebral/cirurgia, Craniectomia Descompressiva/economia, Pobreza, Adulto, Idoso, Envelhecimento, Cuidadores, Infarto Cerebral/epidemiologia, Craniectomia Descompressiva/métodos, Feminino, Seguimentos, Humanos, Incidência, Infarto da Artéria Cerebral Média/cirurgia, Masculino, Pessoa de Meia-Idade, Estudos Retrospectivos, Análise de Sobrevida, Tempo para o Tratamento, Resultado do TratamentoRESUMO
PURPOSE: To describe the primary barriers to adequately adhering to a structured nutritional intervention. PATIENTS AND METHODS: A total of 106 participants diagnosed with dyslipidemia and without a medical nutrition therapeutic plan were included in this two-year study conducted at the INCMNSZ dyslipidemia clinic in Mexico City. All patients were treated with the same structured strategies, including three face-to-face visits and two telephone follow-up visits. Diet plan adherence was evaluated at each site visit through a 3-day or 24-h food recall. RESULTS: Barriers to adhere to the nutritional intervention were: lack of time to prepare their meals (23%), eating outside the home (19%), unwillingness to change dietary patterns (14%), and lack of information about a correct diet for dyslipidemias (14%). All barriers decreased significantly at the end of the intervention. Female gender, current smoking, and following a plan of more than 1500 kcal (R2 = 0.18 and p-value = 0.004) were associated with good diet adherence. Participants showed good levels of adherence to total caloric intake at visit 2 and 3, reporting 104.7% and 95.4%, respectively. Adherence to macronutrient intake varied from 65.1% to 126%, with difficulties in adhering to recommended carbohydrate and fat consumption being more notable. CONCLUSION: The study findings confirm that a structured nutritional intervention is effective in reducing barriers and improving dietary adherence and metabolic control in patients with dyslipidemias. Health providers must identify barriers to adherence early on to design interventions that reduce these barriers and improve adherence.
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Dislipidemias/dietoterapia, Dislipidemias/psicologia, Comportamento Alimentar/psicologia, Terapia Nutricional/psicologia, Cooperação do Paciente/psicologia, Adulto, Feminino, Humanos, Masculino, México, Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Diabetes is a worldwide problem with a greater impact in developing countries, where many people are unaware of their risk. In Mexico, women show the greatest risk for T2D. Current risk scores have been developed and validated in predominantly older European cohorts. They are not the best option in Mexican women. The development of a risk model/score in this population would be useful. OBJECTIVE: To develop and validate a risk model and score that incorporates the most relevant risk factors for T2D in Mexican women of reproductive age. METHODS: The study was carried out in two phases, with the first phase being the development of the predictive model and the second phase the validation of the model in a separate independent population. A cohort of Mexican patients of reproductive age ("Derivation Cohort") was used to create the predictive model. It included data on 3161 women. Risk factors for identification were assessed using Cox proportional hazards regression. Finally a score with a range of 0 to 19 points was developed to identify the 2.4 year probability of developing DM2 in Mexican women of reproductive age. RESULTS: 147 new cases of T2D (4.6%) were identified in the Derivation Cohort model, 97 of 925 participants (10.48%) in the validation cohort. The risk factor predictors of T2D were: history of gestational diabetes (HR 2.69, 95% CI 1.10-6.58), BMI (HR 1.03, 95% CI 1.01-1.06), hypertriglyceridemia (HR 1.54, 95% CI 1.11-2.14) and fasting blood glucose (HR 1.06, 95% CI 1.05-1.08), with an AUC of 0.75. The AUC in the validation cohort was 0.91 (95% CI 0.87-0.94). The score had a sensitivity of 73% and specificity of 67% at a cutoff of ≥15. CONCLUSIONS: A predictive model and risk score was developed to detect cases at risk for incident T2D. It was generated using the characteristics of Mexican women of reproductive age. This risk score is a step forward in attempting to address the generational legacy that diabetes in pregnancy could have on women and their children.
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Diabetes Mellitus Tipo 2, Estudos de Coortes, Diabetes Mellitus Tipo 2/diagnóstico, Diabetes Gestacional/epidemiologia, Feminino, Humanos, México/epidemiologia, Gravidez, Fatores de RiscoRESUMO
INTRODUCTION: Lifestyle changes in medical nutrition therapy (MNT) are associated to HbA1c decreases ranging from 0.3 to 2%. Evidence shows that people with barriers are less likely to adhere to a long-term nutritional plan. Little information is available on the barriers that prevent the implementation of a healthy nutritional plan, and the strategies used to overcome them. OBJECTIVE: To report the longitudinal changes in perceptions of barriers to adherence to a nutritional plan in T2DM. METHODS: A prospective cohort study with intervention. Follow-up was assessed at two years, and all patients received comprehensive care according to the CAIPaDi model. A questionnaire was used to detect the most common barriers to adherence to a nutritional plan at baseline and at 3 months and 1 and 2 years of follow-up. The analysis included data from 320 patients with complete evaluations from baseline to 2 years. Patients with T2DM aged 53.8±9.1 years (55.9% women), BMI 29.2±4.4kg/m2, and time since the diagnosis 1 (0-5) years were included in the study. RESULTS: At baseline, 78.4% of patients reported any barrier that limited adherence to a nutritional plan. The most common were "Lack of information on an adequate diet" (24.7%), "I eat away from home most of the time" (19.7%), and "Denial or refusal to make changes in my diet" (14.4%). After a structured nutritional intervention including strategies to eliminate each barrier, a 37% reduction (p<0.001) was seen in barriers at 2 years of follow-up. Patients with persistent barriers at two years had a greater proportion of HbA1c values >7% (24.7%) and triglyceride levels >150mg/dL (27.5%) out of the control range as compared to those with no barriers (11.6% and 14.4% respectively, p<0.05). CONCLUSIONS: Identification of barriers to adherence to a nutritional plan may allow healthcare professionals design interventions with the specific behavioral components needed to overcome such barrier, thus improving adherence to the nutritional plan with the resultant long-term changes.
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Diabetes Mellitus Tipo 2/dietoterapia, Cooperação do Paciente/estatística & dados numéricos, Índice de Massa Corporal, Pesos e Medidas Corporais, Diabetes Mellitus Tipo 2/sangue, Dieta para Diabéticos, Feminino, Seguimentos, Hemoglobinas Glicadas/análise, Humanos, Competência em Informação, Masculino, México, Pessoa de Meia-Idade, Cooperação do Paciente/psicologia, Educação de Pacientes como Assunto, Estudos Prospectivos, Inquéritos e Questionários, Fatores de Tempo, Triglicerídeos/sangueRESUMO
The estimation of parameters in biomathematical models is useful to characterize quantitatively the dynamics of biological processes. In this paper, we consider some systems of ordinary differential equations (ODEs) modelling the viral dynamics in a cell culture. These models incorporate the loss of viral particles due to the absorption into target cells. We estimated the parameters of models by least-squares minimization between numerical solution of the system and experimental data of cell cultures. We derived a first integral or conserved quantity, and we proved the use of experimental data in order to test the conservation law. The systems have nonhyperbolic equilibrium points, and the conditions for their stability are obtained by using a Lyapunov function. We complemented these theoretical results with some numerical simulations.
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Infectologia/métodos, Viroses/diagnóstico, Viroses/epidemiologia, Algoritmos, Simulação por Computador, Epidemias, Humanos, Técnicas In Vitro, Análise dos Mínimos Quadrados, Informática Médica/métodos, Modelos Biológicos, Modelos Teóricos, Biologia de Sistemas/métodos, Carga Viral, VírusRESUMO
We report here the complete genome sequence of Rhizobium sp. strain ACO-34A, isolated from Agave americana L. rhizosphere. No common nod genes were found, but there were nif genes for nitrogen fixing. A low average nucleotide identity to reported species supports its designation as a novel Rhizobium species that has a complete ribosomal operon in a plasmid.
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Acinetobacter lactucae OTEC-02 was isolated from hydrocarbon-contaminated soils. Whole-genome sequence analysis was performed to learn more about the strain's ability to degrade different types of recalcitrant toxic monoaromatic hydrocarbons. The genome of this bacterium revealed its genomic properties and versatile metabolic features, as well as a complete prophage.
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INTRODUCTION: In teenagers with perennial allergic rhinitis, exposure to tobacco cigarette smoke increases the count of eosinophils in the nasal mucosa; the recruitment of eosinophils arises from the combined action of a number of cellular and molecular signals, including eotaxin. OBJECTIVE: To assess the effect of exposure to tobacco cigarette smoke on the count of immunoreactive cells to eotaxin-1 and eosinophils on the nasal mucosa of children and teenagers with perennial allergic rhinitis. METHODS: In a cross-sectional study, forty-four patients were evaluated (aged 7-19 years old): 22 with and 22 with no exposure to tobacco cigarette smoke. After replying to 2 validated questionnaires, on Asthma and Allergies in Childhood and on the severity of nasal symptoms, nasal mucosal samples were obtained by scraping the middle one-third of the inferior turbinates. Then counts of immunoreactive cells to eotaxin-1 and eosinophils were assessed by immunohistochemistry. RESULTS: Patients with exposure to tobacco cigarette smoke showed higher cell counts of both eotaxin-1 and eosinophils than patients with no exposure to the smoke, with no correlation between the two variables. However, both counts, of eotaxin-1 and eosinophils, were related to the cotinine/creatinine ratio. CONCLUSIONS: Exposure to tobacco cigarette smoke can increase eotaxin-1 and the count of eosinophils in the nasal mucosa of young patients with perennial allergic rhinitis.
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Quimiocina CCL11/imunologia, Eosinófilos/imunologia, Mucosa Nasal/imunologia, Rinite Alérgica Sazonal/imunologia, Poluição por Fumaça de Tabaco/efeitos adversos, Adolescente, Adulto, Contagem de Células, Quimiocina CCL11/análise, Criança, Estudos Transversais, Eosinófilos/citologia, Feminino, Humanos, Imuno-Histoquímica, Masculino, Mucosa Nasal/química, Mucosa Nasal/citologia, Rinite Alérgica Sazonal/patologia, Índice de Gravidade de Doença, Adulto JovemRESUMO
Cervical ectopic pregnancy is a rare condition that occurs in 1 in 2500 to 18,000 pregnancies, is associated with high morbidity and mortality can be reduced by early diagnosis through ultrasound and in this time series of reported cases indicate that the best method of treatment is the drug conservatively with methotrexate. This case is presented to show a failure of conservative treatment and decision making removal of the gravid uterus with subsequent pathology report confirming diagnosis.
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Abortivos não Esteroides/uso terapêutico, Metotrexato/uso terapêutico, Gravidez Ectópica/tratamento farmacológico, Adulto, Feminino, Humanos, Gravidez, Falha de TratamentoRESUMO
OBJECTIVE: To review the literature related to the hysteroscopic techniques such as outpatient diagnostic and therapeutic tools for the extraction of foreign bodies in patients with intrauterine device. METHOD: We searched the main electronic databases were searched for those words: hysteroscopy and intrauterine device in articles related to the removal of intrauterine devices by hysteroscopy. RESULTS: The loss or translocation of IUD is a common problem resulting from the large number of women who have applied. The importance of early diagnosis is to avoid, such as the inappropriate position of the device promotes an unwanted pregnancy, genital bleeding and injury to adjacent organs such as bowel and bladder. The assessment by ultrasound or X-rays, or both, allowing the device to locate and determine the desirability or otherwise of outpatient hysteroscopy (in practice) without anesthesia and with low morbidity for the patient or, well, resorting to other methods, and laparoscopy in the operating room. CONCLUSIONS: Hysteroscopy is an effective procedure for recovering intrauterine foreign bodies or hidden in properly selected patients.
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Remoção de Dispositivo/métodos, Histeroscopia, Dispositivos Intrauterinos, Visita a Consultório Médico, Feminino, HumanosRESUMO
A new lineage of Ensifer nodulating the American legume Acacia angustissima in the tropical forest of Chiapas and Morelos, Mexico is described. Bacteria were identified as Ensifer with ssb or nolR specific primers. Phylogenetic analysis with partial sequences of the five chromosomal genes gyrA, nolR, recA, rpoB and rrs revealed that this new lineage is related to African Ensifer terangae. The results of total DNA-DNA hybridization and selected phenotypic tests among the A. angustissima strains and E. terangae indicated that they belong to different species. The phylogeny with the symbiotic nifH gene also separates this group as a different clade but with close affinities to bacteria belonging to the genus Ensifer isolated from American hosts. ITTG R7(T) (=CFN ER1001, HAMBI 2910, CIP 109033, ATCC BAA-1312, DSM18446) is the type strain of a new species for which the name Ensifer mexicanus sp. nov. is proposed.
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Acacia/microbiologia, Alphaproteobacteria/classificação, Alphaproteobacteria/genética, Alphaproteobacteria/isolamento & purificação, Proteínas de Bactérias/genética, Cromossomos Bacterianos/genética, Genes Bacterianos/genética, México, Fixação de Nitrogênio/genética, Hibridização de Ácido Nucleico, Filogenia, Homologia de Sequência, Sinorhizobium/classificação, Especificidade da Espécie, SimbioseRESUMO
Partial nucleotide sequences of the citrate synthase (gltA) gene from different rhizobia genera were determined. Tree topologies based on this housekeeping gene were similar to that obtained using 16S rRNA sequences. However gltA appeared to be more reliable at determining phylogenetic relationships of closely related taxa. We propose gltA sequences as an additional tool to be used in molecular phylogenetic studies.
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Alphaproteobacteria/classificação, Alphaproteobacteria/genética, Citrato (si)-Sintase/genética, Filogenia, Rhizobiaceae/classificação, Rhizobiaceae/genética, Alphaproteobacteria/enzimologia, DNA Bacteriano/química, DNA Bacteriano/isolamento & purificação, DNA Ribossômico/química, DNA Ribossômico/isolamento & purificação, Genes Bacterianos, Genes de RNAr, Dados de Sequência Molecular, RNA Bacteriano/genética, RNA Ribossômico 16S/genética, Rhizobiaceae/enzimologia, Análise de Sequência de DNARESUMO
In vitro antiplasmodial activities of extracts from Albizia saman, Fabaceae, Calea tenuifolia (C. zacatechichi), Asteraceae, Hymenaea courbaril, Fabaceae, Jatropha curcas, Euphorbiaceae, Momordica charantia, Cucurbitaceae, and Moringa oleifera, Moringaceae were evaluated. From the lipophilic extract of C tenuifolia five active flavones were obtained. 4',5-Dihydroxy-7-methoxyflavone [genkwanin] and 5-hydroxy-4',7-dimethoxyflavone [apigenin 4',7-dimethylether] exhibited the strongest antiplasmodial activity against a chloroquine-sensitive strain (poW) and a chloroquine-resistant strain (Dd2) of Plasmodium falciparum [IC50 values: 17.1-28.5 microM). Furthermore octadeca-9,12-dienoic acid [linoleic acid] [IC50] values of 21.8 microM (poW) and 31.1 microM (Dd2)] and octadeca-9,12,15-trienoic acid (alpha-linolenic acid) were isolated.
