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1.
ACS Bio Med Chem Au ; 4(3): 165-177, 2024 Jun 19.
Artículo en Inglés | MEDLINE | ID: mdl-38911911

RESUMEN

Carbohydrate recognition is imperative for the induction of sperm acrosomal exocytosis (AE), an essential phenomenon in mammalian fertilization. In mouse sperm, polynorbornene 100-mers displaying fucose or mannose moieties were effective at inducing AE. In contrast, glycopolymers exhibiting glucose sugars resulted in no AE activation. To further elucidate the role of ligand density on the activation of AE in mouse sperm, a triple-stain flow cytometry assay was employed to determine the efficacy of polynorbornene block copolymers with barbell-like sequences as initiators of AE. Triblock (ABA or ABC) copolymers were synthesized by ring-opening metathesis polymerization (ROMP) with one or two activating sugars, mannose or fucose, and one nonactivating sugar, glucose. The active ligand fractions in the polymers varied from 10, 20, or 40%. Simultaneously, random copolymers comprising 20% activating ligands were prepared to confirm the importance of ligand positionality in AE activation in mouse sperm. Polynorbornene 100-mers possessing two 10-mer blocks of activating sugars were the most effective copolymers at inducing AE with levels of AE comparable to their homopolymer counterparts and more effective than their random analogues. Small-angle X-ray scattering (SAXS) was then performed to verify that there were no differences in the conformations of the glycopolymers contributing to their varying AE activity. SAXS data analysis confirmed that all of the glycopolymers assumed semiflexible cylindrical structures with similar radii and Kuhn lengths. These findings suggest that the overall ligand density of the sugar moieties in the polymer is less important than the positionality of short blocks of high-density ligands for AE activation in mouse sperm.

2.
Biol Trace Elem Res ; 2024 Apr 27.
Artículo en Inglés | MEDLINE | ID: mdl-38676876

RESUMEN

The presence of arsenic (As) and fluoride (F-) in drinking water is of concern due to the enormous number of individuals exposed to this condition worldwide. Studies in cultured cells and animal models have shown that As- or F-induced hepatotoxicity is primarily associated with redox disturbance and altered mitochondrial homeostasis. To explore the hepatotoxic effects of chronic combined exposure to As and F- in drinking water, pregnant CD-1 mice were exposed to 2 mg/L As (sodium arsenite) and/or 25 mg/L F- (sodium fluoride). The male offspring continued the exposure treatment up to 30 (P30) or 90 (P90) postnatal days. GSH levels, cysteine synthesis enzyme activities, and cysteine transporter levels were investigated in liver homogenates, as well as the expression of biomarkers of ferroptosis and mitochondrial biogenesis-related proteins. Serum transaminase levels and Hematoxylin-Eosin and Masson trichrome-stained liver tissue slices were examined. Combined exposure at P30 significantly reduced GSH levels and the mitochondrial transcription factor A (TFAM) expression while increasing lipid peroxidation, free Fe 2+, p53 expression, and serum ALT activity. At P90, the upregulation of cysteine uptake and synthesis was associated with a recovery of GSH levels. Nevertheless, the downregulation of TFAM continued and was now associated with a downstream inhibition of the expression of MT-CO2 and reduced levels of mtDNA and fibrotic liver damage. Our experimental approach using human-relevant doses gives evidence of the increased risk for early liver damage associated with elevated levels of As and F- in the diet during intrauterine and postnatal period.

3.
World Neurosurg ; 184: e554-e576, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38336210

RESUMEN

BACKGROUND: Intracranial dural arteriovenous fistulas (IDAVFs) are abnormal vascular connections between dural arteries and various venous structures within the brain. IDAVFs, rarely present with parkinsonism and dementia concurrently, making this a unique and underexplored clinical scenario. To the best of our knowledge, this is the first systematic review to comprehensively analyze cases of IDAVFs manifesting as both parkinsonism and dementia. METHODS: We assessed databases from inception to September 18, 2023. We identified studies describing patients with IDAVFs initially presenting with dementia or parkinsonism. Inclusion criteria encompassed case reports and case series, while excluding review articles, guidelines, technical notes, comments, conference abstracts, and editorials. RESULTS: The systematic search resulted in the initial screening of 383 studies, with 33 articles meeting the inclusion criteria. Among these, 29 were case reports, often describing 3 or fewer patients. From the remaining 4 case series, data pertinent to patients presenting both parkinsonism and dementia were selectively extracted, yielding a total study population of 43 patients. The anatomical distribution of IDAVFs within this cohort was diverse, with the transverse and sigmoid sinuses being the most common locations. Although most of these patients received endovascular therapy, a few underwent microsurgical occlusion or combined surgical and endovascular treatment. CONCLUSIONS: IDAVFs presenting with both parkinsonism and dementia represent a rare clinical entity. This systematic review provides valuable insights into the clinical characteristics, treatment options, and outcomes for such cases. However, additional research involving larger cohorts is essential to better comprehend the underlying mechanisms and establish standardized therapeutic guidelines.

4.
Biol Trace Elem Res ; 202(4): 1594-1602, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37450204

RESUMEN

Inorganic arsenic (iAs) and fluoride (iF) are ubiquitous elements whose coexistence is frequent in several regions of the world due to the natural contamination of water sources destined for human consumption. It has been reported that coexposure to these two elements in water can cause toxic effects on health, which are controversial since antagonistic and synergistic effects have been reported. However, there is little information on the possible toxicological interaction between concurrent exposure to iAs and iF on the iAs metabolism profile.The goal of this study was to determine the effect of iF exposure on iAs methylation patterns in the urine and the tissues of female mice of the C57BL/6 strain, which were divided into four groups and exposed daily for 10 days through drinking water as follows: purified water (control); arsenite 1 mg/L, fluoride 50 mg/L and arsenite & fluoride 1:50 mg/L.To characterize the iAs methylation pattern in concomitant iF exposure, iAs and its methylated metabolites (MAs and DMAs) were quantified in the tissues and the urine of mice was exposed to iAs alone or in combination. Our results showed a statistically significant decrease in the arsenic species concentrations and altered relative proportions of arsenic species in tissues and urine in the As-iF coexposure group compared to the iAs-exposed group. These findings show that iF exposure decreases arsenic disposition and alters methylation capacity.Nevertheless, additional studies are required to elucidate the mechanisms involved in the iAs-iF interaction through iF exposure affecting iAs disposition and metabolism.


Asunto(s)
Arsénico , Arsenicales , Arsenitos , Humanos , Ratones , Femenino , Animales , Arsénico/toxicidad , Arsénico/metabolismo , Arsenitos/toxicidad , Fluoruros/toxicidad , Ratones Endogámicos C57BL , Metaboloma , Agua
5.
Arch Toxicol ; 97(9): 2371-2383, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37482551

RESUMEN

Exposure to toxic elements in drinking water, such as arsenic (As) and fluoride (F), starts at gestation and has been associated with memory and learning deficits in children. Studies in which rodents underwent mechanistic single exposure to As or F showed that the neurotoxic effects are associated with their capacity to disrupt redox balance, mainly by diminishing glutathione (GSH) levels, altering glutamate disposal, and altering glutamate receptor expression, which disrupts synaptic transmission. Elevated levels of As and F are common in groundwater worldwide. To explore the neurotoxicity of chronic exposure to As and F in drinking water, pregnant CD-1 mice were exposed to 2 mg/L As (sodium arsenite) and 25 mg/L F (sodium fluoride) alone or in combination. The male litter continued to receive exposure up to 30 or 90 days after birth. The effects of chronic exposure on GSH levels, transsulfuration pathway enzymatic activity, expression of cysteine/cystine transporters, glutamate transporters, and ionotropic glutamate receptor subunits as well as behavioral performance in the object recognition memory task were assessed. Combined exposure resulted in a significant reduction in GSH levels in the cortex and hippocampus at different times, decreased transsulfuration pathway enzyme activity, as well as diminished xCT protein expression. Altered glutamate receptor expression in the cortex and hippocampus and decreased transaminase enzyme activity were observed. These molecular alterations were associated with memory impairment in the object recognition task, which relies on these brain regions.


Asunto(s)
Arsénico , Agua Potable , Embarazo , Femenino , Ratones , Animales , Masculino , Fluoruros/toxicidad , Ácido Glutámico/metabolismo , Arsénico/toxicidad , Receptores de Glutamato/metabolismo , Oxidación-Reducción , Encéfalo/metabolismo , Trastornos de la Memoria/inducido químicamente , Glutatión/metabolismo
6.
Genet Med ; 25(10): 100918, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37330696

RESUMEN

PURPOSE: Orofacial clefts (OFCs) are common birth defects including cleft lip, cleft lip and palate, and cleft palate. OFCs have heterogeneous etiologies, complicating clinical diagnostics because it is not always apparent if the cause is Mendelian, environmental, or multifactorial. Sequencing is not currently performed for isolated or sporadic OFCs; therefore, we estimated the diagnostic yield for 418 genes in 841 cases and 294 controls. METHODS: We evaluated 418 genes using genome sequencing and curated variants to assess their pathogenicity using American College of Medical Genetics criteria. RESULTS: 9.04% of cases and 1.02% of controls had "likely pathogenic" variants (P < .0001), which was almost exclusively driven by heterozygous variants in autosomal genes. Cleft palate (17.6%) and cleft lip and palate (9.09%) cases had the highest yield, whereas cleft lip cases had a 2.80% yield. Out of 39 genes with likely pathogenic variants, 9 genes, including CTNND1 and IRF6, accounted for more than half of the yield (4.64% of cases). Most variants (61.8%) were "variants of uncertain significance", occurring more frequently in cases (P = .004), but no individual gene showed a significant excess of variants of uncertain significance. CONCLUSION: These results underscore the etiological heterogeneity of OFCs and suggest sequencing could reduce the diagnostic gap in OFCs.


Asunto(s)
Labio Leporino , Fisura del Paladar , Humanos , Labio Leporino/diagnóstico , Labio Leporino/genética , Fisura del Paladar/diagnóstico , Fisura del Paladar/genética , Alelos , Mapeo Cromosómico , Factores Reguladores del Interferón/genética
7.
Can Geriatr J ; 26(1): 187-199, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36865404

RESUMEN

Background: Older adults are a particularly vulnerable group to drug use and self-medication. The aim of the study was to evaluate self-medication as a factor associated with the purchase of brand-name and over-the-counter (OTC) drugs in older adults in Peru. Methods: A secondary analysis was performed using an analytical cross-sectional design of data from a nationally representative survey from 2014 to 2016. The exposure variable was self-medication, defined as the purchase of medicines without a prescription. The dependent variables were purchases of brand-name and OTC drugs, both as a dichotomous response (yes/no). Information of sociodemographic variables, health insurance, and the types of drugs purchased by the participants was collected. Crude prevalence ratios (PR) were calculated and adjusted using generalized linear models of the Poisson family, considering the complex sample of the survey. Results: In this study, 1,115 respondents were evaluated, with a mean age of 63.8 years and a male proportion of 48.2%. The prevalence of self-medication was 66.6%, while the proportions of purchases of brand-name and OTC drugs were 62.4% and 23.6%, respectively. The adjusted Poisson regression analysis revealed an association between self-medication and the purchase of brand-name drugs (adjusted PR [aPR]=1.09; 95% confidence interval [CI]: 1.01-1.19). Likewise, self-medication was associated with the purchase of OTC medications (aPR=1.97; 95%CI: 1.55-2.51). Conclusions: This study evidenced a high prevalence of self-medication in Peruvian older adults. Two-thirds of the surveyed people bought brand-name drugs, whereas one-quarter bought OTC drugs. Self-medication was associated with a greater likelihood of buying brand-name and OTC drugs.

8.
Plant Foods Hum Nutr ; 78(2): 314-319, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36913108

RESUMEN

Wheat-flour (WF) tortillas are among the popular flatbreads used in northern Mexico to prepare 'burritos', which are widely accepted in the USA and other countries but have low nutritional quality. Therefore, to increase the protein and fiber contents, we replaced 10 or 20% of the WF with coconut (Cocos nucifera, variety Alto Saladita) flour (CF) and evaluated the effects on the dough rheology and quality of the composite tortillas. There were differences in the optimum mixing times among the doughs. The protein, fat, and ash contents of the tortillas increased (p < 0.05) with increasing CF content. The carbohydrate content was unchanged (p > 0.05), but the 20% CF tortillas contained more fiber than the control tortilla. Tortilla firmness increased (p < 0.05) and extensibility decreased (p < 0.05) with increasing CF content. The 80:20 blended tortillas showed the highest firmness (7.9 N), whereas the control and 90:10 blended tortillas did not differ (p > 0.05) in firmness. There were no differences (p > 0.05) in extensibility between the composite tortillas. The physicochemical properties of the tortillas indicated that the 20% CF-containing tortilla was a more nutritious option to the wheat flour tortilla due to its higher dietary fiber and protein contents, in addition to the slight reduction seen in extensibility compared to the WF tortilla.


Asunto(s)
Harina , Triticum , Triticum/química , Cocos , Pan , Reología
9.
Int Ophthalmol ; 43(2): 357-358, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35916990

RESUMEN

A correction about phakic intraocular lens power calculation process, as it was stated by Li, Song & Song, is provided. It is explained that this calculation is based on the Van der Heijde formula and not on biometric formulas. A comment about the mechanisms of late endothelial cell loss following phakic intraocular lenses is done.


Asunto(s)
Lentes Intraoculares , Miopía , Lentes Intraoculares Fáquicas , Humanos , Implantación de Lentes Intraoculares , Células Endoteliales , Miopía/cirugía , Biometría , Lentes Intraoculares/efectos adversos
11.
Bol Med Hosp Infant Mex ; 79(1): 26-32, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35086126

RESUMEN

BACKGROUND: Ocular trauma is one of the leading causes of decreased visual acuity and monocular blindness in the pediatric population. Since its occurrence is potentially preventable, it is essential to understand its demographic characteristics and risk factors to alert and implement prevention and health promotion programs. METHODS: We conducted a retrospective study in which we reviewed 187 clinical records of patients ≤ 15 years old with the diagnosis of severe ocular trauma admitted in 2017 to the Hospital Civil de Guadalajara. We analyzed demographic variables, circumstances of the event, type of treatment, and the evolution of visual acuity and complications. RESULTS: In total, 187 patients and 188 eyes were included; the average age was 6.99 ± 4.1 years. Children of 2 to 5 years of age (41%) were the most affected, and a higher occurrence was observed in males (73%). Open ocular trauma was the most common type of injury (72.7%) caused by sharp objects (45.4%). Most injuries occurred at home (78.1%), without adult supervision (48.1%), and during leisure time (74.9%). Most events were accidental (80.4%), although 12.3% were direct aggression. Surgery was required in 179 patients, in whom corneal injury repair (43.2%) was the most commonly used procedure. Final visual acuity was quantified in 132 eyes, and visual acuity < 20/200 was found in 18.1%. Loss of 4.2% of the eyeballs was recorded. CONCLUSIONS: The highest proportion of cases was identified in male patients ≤5 years old, unsupervised by an adult. Many eye injuries are preventable, so it is necessary to implement socio-educational programs in alliance with pediatric organizations that alert the severity of the problem and promote safe environments.


INTRODUCCIÓN: El trauma ocular es una de las principales causas de disminución de la agudeza visual y de ceguera monocular en la población pediátrica. Su ocurrencia es potencialmente prevenible, por lo que es importante entender sus características demográficas y riesgos para alertar e implementar programas enfocados hacia la prevención y la promoción de la salud. MÉTODOS: Estudio retrospectivo en el que se analizaron 187 expedientes de pacientes ≤ 15 años con diagnóstico de trauma ocular grave ingresados en 2017 al Hospital Civil de Guadalajara. Se analizaron variables demográficas, circunstancias del evento y tipo de tratamiento, así como la evolución de la agudeza visual y las complicaciones. RESULTADOS: Se incluyeron 187 pacientes y 188 ojos; el promedio de edad en el momento del trauma fue de 6.99 ± 4.1 años. Los niños de 2-5 años (41%) fueron los más afectados y se observó una mayor ocurrencia en el sexo masculino (73%). El trauma ocular abierto fue el tipo de lesión más común (72.7%), causado por objetos punzantes (45.4%). La mayoría de las lesiones ocurrieron en casa (78.1%), sin supervisión de un adulto (48.1%) y durante el tiempo libre (74.9%). La mayoría de los sucesos fueron accidentales (80.4%), aunque el 12.3% fue por agresiones directas. Se requirió cirugía en 179 pacientes, en quienes la reparación de lesión corneal (43.2%) fue el procedimiento más utilizado. La agudeza visual final se cuantificó en 132 ojos y se encontró < 20/200 en el 18.1%. Se registró la pérdida del 4.2% de los globos oculares. CONCLUSIONES: La proporción más alta de casos se identificó en pacientes de sexo masculino ≤ 5 años, que se encontraban sin supervisión. Una gran proporción de las lesiones oculares son prevenibles, por lo que es necesario implementar programas educativos sociales en coordinación con organizaciones pediátricas que alerten de la gravedad del problema y promuevan entornos seguros.


Asunto(s)
Lesiones Oculares , Adolescente , Adulto , Niño , Preescolar , Lesiones Oculares/complicaciones , Lesiones Oculares/diagnóstico , Lesiones Oculares/epidemiología , Hospitales , Humanos , Masculino , México/epidemiología , Estudios Retrospectivos , Agudeza Visual
13.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-972122

RESUMEN

Background@#The local health center (LHC) is the locus of public health service delivery in the barangays of Makati City. It should be the first-line for consultation and should be able to address most health concerns of the community. Considering the many services offered in the LHC, one must study the reasons why constituents opt to consult in the city hospital or in private institutions rather than the LHC. @*Objective@#This study sought to determine the correlation between community perception of the LHC and utilization of the LHC in Barangay Rizal and Barangay Southside, and the correlation between demographic variables and the utilization of the LHC in Barangay Rizal and Barangay Southside. @*Methods@#This is an observational study that utilized a cross-sectional survey. Utilization of the Local Health Center was operationally defined as any consultation in the local health center in the past year, regardless of occurrence of illness. The survey questionnaire had a 5-point Likert Scale and utilized the Patient Satisfaction Questionnaire-18 and added other possible factors affecting utilization based on related literature. @*Results@#Utilization of the LHC had a weak correlation with barangay (Rizal versus Southside), older age, and having more co-morbid illnesses. Community perception of General Satisfaction, Availability of doctors, and Availability of free medications had a weak correlation with consulting in the LHC and had good community perception ratings.@*Conclusion@#Patient-Doctor Relationship also showed a weak correlation with consulting in the LHC but merits attention because it had a somewhat low community perception rating.


Asunto(s)
Estudios Transversales , Centros Comunitarios de Salud
14.
Public Health ; 189: 14-19, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33126117

RESUMEN

OBJECTIVES: The aim of the study was to understand the role of household variables on the percentage of physical activity (%PA) during the coronavirus disease 2019 (COVID-19) confinement in Portugal. STUDY DESIGN: A cross-sectional study design using an anonymous online survey was launched to assess how Portuguese families with children aged younger than 13 years adjusted their daily routines to the confinement. METHODS: Separate analyses of variance were performed to investigate how factors such as the number of children, age, sex, the housing characteristics, and the adults' job situation can affect the percentage of time for PA (%PA). RESULTS: Findings, based on data from 2159 children, indicate that (1) boys and girls did not differ in the %PA on any of the age-groups; (2) children with an outdoor space and who had other children in the household were significantly more active (P < .001); (3) children from families with all adults working from home showed lower levels of %PA; and (4) being younger, having a big outdoor space, having other children in the household, and having at least one adult free from working from home were significant positive predictors of children's %PA, explaining 21% of the overall variance. CONCLUSION: Time allocated for PA during this period is reduced compared with what is usually reported on normal days. It is necessary to find strategies to increase children's PA, especially in families in which both parents are working and have no outdoor space.


Asunto(s)
COVID-19/psicología , Ejercicio Físico/psicología , Conductas Relacionadas con la Salud/fisiología , SARS-CoV-2 , Aislamiento Social/psicología , COVID-19/epidemiología , Niño , Salud Infantil , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Portugal/epidemiología , Características de la Residencia , Conducta Sedentaria , Encuestas y Cuestionarios
15.
Toxicol Appl Pharmacol ; 403: 115164, 2020 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-32738329

RESUMEN

BACKGROUND: Arsenic exposure is associated with cardiovascular risk in adults; however, few epidemiologic studies have evaluated biomarkers of cardiovascular risk in children who are environmentally exposed to arsenic. OBJECTIVE: The aim of this study was to assess the associations between urinary arsenic, plasma natriuretic peptides and echocardiographic parameters in Mexican children exposed to arsenic through the drinking water. METHODS: We conducted a cross-sectional study with 192 children (3-8 years old) from Zimapan, Hidalgo, Mexico. B-type natriuretic peptide (BNP), NT-proBNP and atrial natriuretic peptide (ANP) were measured by ELISA, urinary arsenic concentration (UAs) were measured via by hydride generation-cryotrapping-atomic absorption spectrometry, and cardiac parameters were measured by echocardiography. RESULTS: The median plasma concentrations of ANP, BNP and NT-proBNP were 36.9 ng/mL, 49.7 pg/mL, and 226.1 pg/mL, respectively. Using multivariable models, a dose-response relationship was observed between BNP concentrations and UAs tertiles (<47 ng/mL: reference, 47-72 ng/mL: 48.7 pg/mL, >72 ng/mL: 52.2 pg/mL, P-trend = 0.020). BNP concentrations also increased with increasing U-tAs as continuous variables (0.43 pg/mL increase per 1 ng/mL increase of U-tAs; P-Value = 0.008). Additionally, BNP was positively associated with arsenic methylated metabolites (U-MAs and U-DMAs). On the other hand, BNP was inversely related to relative wall thickness (RWT). No associations were found for other cardiac parameters. Finally, neither ANP nor NT-proBNP were significantly related to arsenic exposure or echocardiographic parameters. CONCLUSIONS: In this study, we showed associations between plasma BNP and arsenic exposure. Our results support the importance of reducing childhood arsenic exposure, which may have cardiovascular effects early in life.


Asunto(s)
Arsénico/toxicidad , Corazón/efectos de los fármacos , Corazón/diagnóstico por imagen , Péptidos Natriuréticos/metabolismo , Niño , Preescolar , Estudios Transversales , Ecocardiografía , Exposición a Riesgos Ambientales , Contaminantes Ambientales/toxicidad , Femenino , Humanos , Masculino , México
16.
J Dairy Sci ; 103(7): 5906-5915, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32389480

RESUMEN

Nowadays, there is an increasing concern regarding the shelf life of food products, leading producers to research natural antimicrobial agents to use in food preparation. In this study, we evaluated the antifungal activity of Lactobacillus plantarum fermented whey and then added the whey during preparation of pita bread to study shelf-life improvement. The fermented whey showed a satisfactory inhibitory (antifungal) effect against Penicillium expansum and Penicillium brevicompactum strains: the minimum inhibitory and minimum fungicidal concentrations ranged from 3.9 to 39.0 g/L and from 62.5 to 250 g/L, respectively. Addition of fermented whey increased the shelf life of the pita bread. After inoculation of the bread surface with Penicillium, an increase in shelf life until d 8 was achieved compared with the positive control, whereas under natural contamination conditions, an extension of shelf life until d 19 was observed. In terms of antimicrobial activity, the greatest reduction (100%) in fungal growth was achieved when all of the water in the dough was replaced with fermented whey. An untrained sensory panel could not identify differences between bread produced with fermented whey and control pita breads. These results suggest the possibility of using fermented whey in food preservation.


Asunto(s)
Antifúngicos/farmacología , Pan/análisis , Fermentación , Conservación de Alimentos/métodos , Lactobacillus plantarum/fisiología , Penicillium/efectos de los fármacos , Suero Lácteo/química , Penicillium/crecimiento & desarrollo
17.
Clin Microbiol Infect ; 26(10): 1291-1299, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32061798

RESUMEN

BACKGROUND: Machine learning (ML) is increasingly being used in many areas of health care. Its use in infection management is catching up as identified in a recent review in this journal. We present here a complementary review to this work. OBJECTIVES: To support clinicians and researchers in navigating through the methodological aspects of ML approaches in the field of infection management. SOURCES: A Medline search was performed with the keywords artificial intelligence, machine learning, infection∗, and infectious disease∗ for the years 2014-2019. Studies using routinely available electronic hospital record data from an inpatient setting with a focus on bacterial and fungal infections were included. CONTENT: Fifty-two studies were included and divided into six groups based on their focus. These studies covered detection/prediction of sepsis (n = 19), hospital-acquired infections (n = 11), surgical site infections and other postoperative infections (n = 11), microbiological test results (n = 4), infections in general (n = 2), musculoskeletal infections (n = 2), and other topics (urinary tract infections, deep fungal infections, antimicrobial prescriptions; n = 1 each). In total, 35 different ML techniques were used. Logistic regression was applied in 18 studies followed by random forest, support vector machines, and artificial neural networks in 18, 12, and seven studies, respectively. Overall, the studies were very heterogeneous in their approach and their reporting. Detailed information on data handling and software code was often missing. Validation on new datasets and/or in other institutions was rarely done. Clinical studies on the impact of ML in infection management were lacking. IMPLICATIONS: Promising approaches for ML use in infectious diseases were identified. But building trust in these new technologies will require improved reporting. Explainability and interpretability of the models used were rarely addressed and should be further explored. Independent model validation and clinical studies evaluating the added value of ML approaches are needed.


Asunto(s)
Sistemas de Apoyo a Decisiones Clínicas , Registros Electrónicos de Salud , Aprendizaje Automático , Sepsis/diagnóstico , Sepsis/terapia , Algoritmos , Infección Hospitalaria/diagnóstico , Infección Hospitalaria/terapia , Humanos , Pronóstico , Infección de la Herida Quirúrgica/diagnóstico , Infección de la Herida Quirúrgica/terapia , Infecciones Urinarias/diagnóstico , Infecciones Urinarias/terapia
18.
Am J Med Genet A ; 182(5): 1223-1229, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32022998

RESUMEN

We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein truncation. From our review, we found at least 39 published CFNS patients with extracranial midline defects, comprising congenital diaphragmatic hernia, congenital heart defects, umbilical hernia, hypospadias, and less frequently, sacrococcygeal teratomas, and internal genital anomalies in females. These findings support that the EFNB1 mutations have systemic consequences disrupting morphogenetic events at the extracranial midline. Though these are not rigorously included as midline defects, we found at least 10 CFNS patients with congenital anomalies of the kidney and urinary tract, all females. Additionally, uterus didelphys and ocular melanocytosis observed in our patient are proposed also as a previously unreported EFNB1-related midline defects. In addition, this case may be useful for considering the intentional search for genitourinary anomalies in future patients with CFNS, which will be helpful to define their frequency in this entity.


Asunto(s)
Agenesia del Cuerpo Calloso/genética , Anomalías Craneofaciales/genética , Efrina-B1/genética , Hernias Diafragmáticas Congénitas/genética , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Agenesia del Cuerpo Calloso/patología , Niño , Preescolar , Anomalías Craneofaciales/diagnóstico por imagen , Anomalías Craneofaciales/patología , Exones/genética , Femenino , Hernias Diafragmáticas Congénitas/diagnóstico por imagen , Hernias Diafragmáticas Congénitas/patología , Heterocigoto , Humanos , Lactante , Masculino , Mutación/genética , Cráneo/diagnóstico por imagen , Cráneo/patología
19.
Sci Total Environ ; 684: 621-628, 2019 Sep 20.
Artículo en Inglés | MEDLINE | ID: mdl-31158625

RESUMEN

Arsenic (As) and fluoride (F) are two common groundwater toxicants. The toxicity of As is closely related to As metabolism, and several biological and environmental factors have been associated with As modification. However, limited information about the effect of F exposure on the modification of the As metabolism profile has been described. The aim of this study was to assess the interaction effect of AsF coexposure on the As metabolism profile in an adult population environmentally exposed to low-moderate As levels. A cross-sectional study was conducted in 236 adults from three Mexican communities. F and As concentrations were quantified in water samples. The concentrations of urinary F and As species [inorganic arsenic (iAs), monomethylated arsenic (MAs) and dimethylated arsenic (DMAs)] were also determined and used as exposure biomarkers. As species percentages and methylation indices were estimated to evaluate the As methylation profile. Our results showed a relationship between the water and urine concentrations of both contaminants and, a significant correlation between the As and F concentrations in water and urine samples. A statistically significant interaction of F and As exposure on the increase in MAs% (ß = 0.16, p = 0.018) and the decrease in DMAs% (ß = -0.3, p = 0.034), PMI (ß = -0.07, p = 0.052) and SMI (ß = -0.13, p = 0.097) was observed. These findings indicate that drinking water is the main source of AsF coexposure and suggest that F exposure decreases As methylation capacity. However, additional large and prospective studies are required to confirm our findings, and to elucidate the involved mechanisms of interaction and their implications in adverse health effects.


Asunto(s)
Arsénico/metabolismo , Arsenicales/metabolismo , Exposición a Riesgos Ambientales/efectos adversos , Fluoruros/efectos adversos , Contaminantes Químicos del Agua/efectos adversos , Adulto , Biomarcadores/análisis , Estudios Transversales , Femenino , Agua Subterránea/química , Humanos , Masculino , Persona de Mediana Edad , Contaminantes Químicos del Agua/metabolismo
20.
Muscle Nerve ; 60(1): 90-95, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-30994189

RESUMEN

INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized mainly by skeletal muscle alterations. Although oropharyngeal dysphagia is a prominent clinical feature of DM1, it remains poorly studied in its early disease stages. METHODS: Dysphagia was investigated in 11 presymptomatic DM1 carriers, 14 patients with DM1 and 12 age-matched healthy controls, by using fiberoptic endoscopic evaluation of swallowing (FEES) and clinical scores. RESULTS: Scores for the FEES variables, delayed pharyngeal reflex, posterior pooling, and postswallow residue were significantly greater in patients with DM1 and in presymptomatic DM1 carriers than in healthy controls (P < 0.05); oropharyngeal dysfunction was more severe in patients than in presymptomatic carriers. Penetration/aspiration was found altered exclusively in patients with DM1 (P < 0.05). DISCUSSION: Swallowing dysfunction occurs in presymptomatic DM1 carriers. Timely diagnosis of dysphagia in preclinical stages of the disease will aid in the timely management of presymptomatic carriers, potentially preventing medical complications. Muscle Nerve, 2019.


Asunto(s)
Enfermedades Asintomáticas , Trastornos de Deglución/fisiopatología , Distrofia Miotónica/fisiopatología , Adolescente , Adulto , Anciano , Estudios de Casos y Controles , Trastornos de Deglución/etiología , Endoscopía del Sistema Digestivo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Distrofia Miotónica/complicaciones , Distrofia Miotónica/genética , Proteína Quinasa de Distrofia Miotónica/genética , Adulto Joven
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