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1.
Mov Disord ; 38(9): 1625-1635, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37469269

RESUMEN

BACKGROUND: Sex differences in Parkinson's disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear. OBJECTIVE: The objective of this study was to perform the first X-chromosome-wide association study for PD risk in a Latin American cohort. METHODS: We used data from three admixed cohorts: (1) Latin American Research consortium on the Genetics of Parkinson's Disease (n = 1504) as discover cohort, and (2) Latino cohort from International Parkinson Disease Genomics Consortium (n = 155) and (3) Bambui Aging cohort (n = 1442) as replication cohorts. We also developed an X-chromosome framework specifically designed for admixed populations. RESULTS: We identified eight linkage disequilibrium regions associated with PD. We replicated one of these regions (top variant rs525496; discovery odds ratio [95% confidence interval]: 0.60 [0.478-0.77], P = 3.13 × 10-5 replication odds ratio: 0.60 [0.37-0.98], P = 0.04). rs5525496 is associated with multiple expression quantitative trait loci in brain and non-brain tissues, including RAB9B, H2BFM, TSMB15B, and GLRA4, but colocalization analysis suggests that rs5525496 may not mediate risk by expression of these genes. We also replicated a previous X-chromosome-wide association study finding (rs28602900), showing that this variant is associated with PD in non-European populations. CONCLUSIONS: Our results reinforce the importance of including X-chromosome and diverse populations in genetic studies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Cromosomas Humanos X , Enfermedad de Parkinson , Femenino , Humanos , Masculino , Estudio de Asociación del Genoma Completo , Hispánicos o Latinos , América Latina , Enfermedad de Parkinson/genética , Factores Sexuales , Cromosomas Humanos X/genética , Desequilibrio de Ligamiento/genética
2.
Inorg Chem ; 62(22): 8505-8518, 2023 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-37216471

RESUMEN

The mononuclear cobalt hydride complex [HCo(triphos)(PMe3)], in which triphos = PhP(CH2CH2PPh2)2, was synthesized and characterized by X-ray crystallography and by 1H and 31P NMR spectroscopy. The geometry of the compound is a distorted trigonal bipyramid in which the axial positions are occupied by the hydride and the central phosphorus atom of the triphos ligand, while the PMe3 and terminal triphos donor atoms occupy the equatorial positions. Protonation of [HCo(triphos)(PMe3)] generates H2 and the Co(I) cation, [Co(triphos)(PMe3)]+, and this reaction is reversible under an atmosphere of H2 when the proton source is weakly acidic. The thermodynamic hydricity of HCo(triphos)(PMe3) was determined to be 40.3 kcal/mol in MeCN from measurements of these equilibria. The reactivity of the hydride is, therefore, well suited to CO2 hydrogenation catalysis. Density functional theory (DFT) calculations were performed to evaluate the structures and hydricities of a series of analogous cobalt(triphosphine)(monophosphine) hydrides where the phosphine substituents are systematically changed from Ph to Me. The calculated hydricities range from 38.5 to 47.7 kcal/mol. Surprisingly, the hydricities of the complexes are generally insensitive to substitution at the triphosphine ligand, as a result of competing structural and electronic trends. The DFT-calculated geometries of the [Co(triphos)(PMe3)]+ cations are more square planar when the triphosphine ligand possesses bulkier phenyl groups and more tetrahedrally distorted when the triphosphine ligand has smaller methyl substituents, reversing the trend observed for [M(diphosphine)2]+ cations. More distorted structures are associated with an increase in ΔGH-°, and this structural trend counteracts the electronic effect in which methyl substitution at the triphosphine is expected to yield smaller ΔGH-° values. However, the steric influence of the monophosphine follows the normal trend that phenyl substituents give more distorted structures and increased ΔGH-° values.

3.
Ann Neurol ; 90(3): 353-365, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34227697

RESUMEN

OBJECTIVE: This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, and to increase the diversity in PD genome-wide association (GWAS) data. METHODS: We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p-value <1 × 10-5 were tested in a replication cohort of 1,234 self-reported Latino PD cases and 439,522 Latino controls from 23andMe, Inc. We also performed an admixture mapping analysis where local ancestry blocks were tested for association with PD status. RESULTS: One locus, SNCA, achieved genome-wide significance (p-value <5 × 10-8 ); rs356182 achieved genome-wide significance in both the discovery and the replication cohorts (discovery, G allele: 1.58 OR, 95% CI 1.35-1.86, p-value 2.48 × 10-8 ; 23andMe, G allele: 1.26 OR, 95% CI 1.16-1.37, p-value 4.55 × 10-8 ). In our admixture mapping analysis, a locus on chromosome 14, containing the gene STXBP6, achieved significance in a joint test of ancestries and in the Native American single-ancestry test (p-value <5 × 10-5 ). A second locus on chromosome 6, containing the gene RPS6KA2, achieved significance in the African single-ancestry test (p-value <5 × 10-5 ). INTERPRETATION: This study demonstrated the importance of the SNCA locus for the etiology of PD in Latinos. By leveraging the demographic history of our cohort via admixture mapping, we identified two potential PD risk loci that merit further study. ANN NEUROL 2021;90:353-365.


Asunto(s)
Sitios Genéticos/genética , Variación Genética/genética , Estudio de Asociación del Genoma Completo/métodos , Hispánicos o Latinos/genética , Enfermedad de Parkinson/etnología , Enfermedad de Parkinson/genética , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Polimorfismo de Nucleótido Simple/genética , América del Sur/etnología
4.
Mov Disord ; 36(2): 434-441, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33150996

RESUMEN

BACKGROUND: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's patients. The objective of this study was to understand the genome-wide burden of copy number variants in Latinos and its association with Parkinson's disease. METHODS: We used genome-wide genotyping data from 747 Parkinson's disease patients and 632 controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. RESULTS: Genome-wide copy number burden analysis showed that patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared with controls (odds ratio, 3.97; 95%CI, 1.69-10.5; P = 0.018). PRKN showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared with patients with other copy number variants (median age at onset, 31 vs 57 years, respectively; P = 7.46 × 10-7 ). CONCLUSIONS: We found that although overall genome-wide copy number variant burden was not significantly different, Parkinson's disease patients were significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that of 250 patients with early-onset disease, 5.6% carried a copy number variant on PRKN in our cohort. Our study is the first to analyze genome-wide copy number variant association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population. © 2020 International Parkinson and Movement Disorder Society.


Asunto(s)
Enfermedad de Parkinson , Edad de Inicio , Variaciones en el Número de Copia de ADN/genética , Estudio de Asociación del Genoma Completo , Hispánicos o Latinos/genética , Humanos , América Latina , Persona de Mediana Edad , Enfermedad de Parkinson/genética
5.
Philos Trans A Math Phys Eng Sci ; 379(2205): 20200302, 2021 Sep 06.
Artículo en Inglés | MEDLINE | ID: mdl-34275360

RESUMEN

In this paper, we study the shear-induced flow of magneto-polymer composites, consisting of dispersions of magnetic particles in solutions of polymers, as a competition between the colloidal forces amid particles and their bulk transport induced by the hydrodynamic forces. For this aim, we analyse the role of different experimental parameters. Firstly, by using only solutions of a well-known anionic polymer (sodium alginate), we provoke a moderate hindering of particle movement, but keeping the liquid-like state of the samples. On the contrary, a gel-like behaviour is conferred to the samples when a cationic polymer (chitosan) is additionally added, which further reduces the particle movement. We analyse the effect of an applied magnetic field, which is opposed to particle transport by hydrodynamic forces, by inducing magnetic attraction between the particles. We perform the analysis under both stationary and oscillatory shear. We show that by using dimensionless numbers the differences between samples and experimental conditions are emphasized. In all cases, as expected, the transport of particles driven by bulk hydrodynamic forces dominates at high values of the shear rate. This article is part of the theme issue 'Transport phenomena in complex systems (part 1)'.

6.
Philos Trans A Math Phys Eng Sci ; 378(2171): 20190254, 2020 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-32279633

RESUMEN

Even in the absence of cross-linking, at large enough concentration, long polymer strands have a strong influence on the rheology of aqueous systems. In this work, we show that solutions of medium molecular weight (120 000-190 000 g mol-1) alginate polymer retained a liquid-like behaviour even for concentrations as large as 20% w/v. On the contrary, solutions of alginate polymer of larger (and also polydisperse) molecular weight (up to 600 000 g mol-1) presented a gel-like behaviour already at concentrations of 7% w/v. We dispersed micrometre-sized iron particles at a concentration of 5% v/v in these solutions, which resulted in either stable magnetic fluids or gels, depending on the type of alginate polymer employed (medium or large molecular weight, respectively). These magneto-polymer composites presented a shear-thinning behaviour that allowed injection through a syringe and recovery of the original properties afterwards. More interestingly, application of a magnetic field resulted in the formation of particle clusters elongated along the field direction. The presence of these clusters intensely affected the rheology of the systems, allowing a reversible control of their stiffness. We finally developed theoretical modelling for the prediction of the magnetic-sensitive rheological properties of these magneto-polymer colloids. This article is part of the theme issue 'Patterns in soft and biological matters'.

7.
Aerosp Med Hum Perform ; 95(2): 123-131, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38263098

RESUMEN

INTRODUCTION: Human access to space is expanding rapidly in the commercial environment, with various private companies offering commercial flights to spaceflight participants (SFPs). SFPs are more likely than career astronauts to have medical conditions novel to spaceflight and may not have undergone as rigorous a medical screening process as that used for career astronauts, representing new and unstudied risks in the spaceflight environment. We report participation of a subject with recent median sternotomy for aortic valve replacement and atrial septal defect closure in centrifuge-simulated dynamic phases of orbital and suborbital spaceflight.CASE REPORT: A 40-yr-old man with a history of congenital bicuspid aortic valve and atrial septal defect with successful repair 8 mo prior participated in an ongoing human centrifuge research study. The subject had the opportunity to participate in up to five centrifuge runs in an 8-h period, with profiles simulating commercial spaceflight. Maximum exposures included +4.0 Gz, +4.5 Gx, 6.1 G resultant, and maximum onset rate < 0.5 Gz · s-1 and +1 Gx · s-1. Physiological data acquisition included hemodynamics, electrocardiogram, neurovestibular exams, and postrun questionnaires covering motion sickness, disorientation, and similar. The subject tolerated the physiological aspects of hypergravity well, noting progressive sternal pain with increasing +Gx, ultimately leading him to opt out of the final profile.DISCUSSION: Postcardiothoracic surgery risks to SFPs are largely unknown, especially within 12 mo of a significant surgical procedure. This case provides an approach for risk stratification, preparticipation evaluation, and medical management of a postsurgical patient with significant cardiac history in spaceflight and analog environments.Fernandez WL, Blue RS, Harrison MF, Powers W, Shah R, Auñón-Chancellor S. Centrifuge-simulated spaceflight after aortic valve replacement and atrial septal defect repair. Aerosp Med Hum Perform. 2024; 95(2):123-131.


Asunto(s)
Defectos del Tabique Interatrial , Hipergravedad , Vuelo Espacial , Humanos , Masculino , Válvula Aórtica , Astronautas
8.
Microorganisms ; 12(2)2024 Feb 04.
Artículo en Inglés | MEDLINE | ID: mdl-38399728

RESUMEN

Parkinson's disease (PD) is a chronic and progressive neurodegenerative disease with the major symptoms comprising loss of movement coordination (motor dysfunction) and non-motor dysfunction, including gastrointestinal symptoms. Alterations in the gut microbiota composition have been reported in PD patients vs. controls. However, it is still unclear how these compositional changes contribute to disease etiology and progression. Furthermore, most of the available studies have focused on European, Asian, and North American cohorts, but the microbiomes of PD patients in Latin America have not been characterized. To address this problem, we obtained fecal samples from Colombian participants (n = 25 controls, n = 25 PD idiopathic cases) to characterize the taxonomical community changes during disease via 16S rRNA gene sequencing. An analysis of differential composition, diversity, and personalized computational modeling was carried out, given the fecal bacterial composition and diet of each participant. We found three metabolites that differed in dietary habits between PD patients and controls: carbohydrates, trans fatty acids, and potassium. We identified six genera that changed significantly in their relative abundance between PD patients and controls, belonging to the families Lachnospiraceae, Lactobacillaceae, Verrucomicrobioaceae, Peptostreptococcaceae, and Streptococcaceae. Furthermore, personalized metabolic modeling of the gut microbiome revealed changes in the predicted production of seven metabolites (Indole, tryptophan, fructose, phenylacetic acid, myristic acid, 3-Methyl-2-oxovaleric acid, and N-Acetylneuraminic acid). These metabolites are associated with the metabolism of aromatic amino acids and their consumption in the diet. Therefore, this research suggests that each individual's diet and intestinal composition could affect host metabolism. Furthermore, these findings open the door to the study of microbiome-host interactions and allow us to contribute to personalized medicine.

9.
Biochemistry ; 52(50): 8969-71, 2013 Dec 17.
Artículo en Inglés | MEDLINE | ID: mdl-24295216

RESUMEN

MitoNEET is a protein that was identified as a drug target for diabetes, but its cellular function as well as its role in diabetes remains elusive. Protein pull-down experiments identified glutamate dehydrogenase 1 (GDH1) as a potential binding partner. GDH1 is a key metabolic enzyme with emerging roles in insulin regulation. MitoNEET forms a covalent complex with GDH1 through disulfide bond formation and acts as an activator. Proteomic analysis identified the specific cysteine residues that participate in the disulfide bond. This is the first report that effectively links mitoNEET to activation of the insulin regulator GDH1.


Asunto(s)
Disulfuros/metabolismo , Glutamato Deshidrogenasa/metabolismo , Proteínas de Unión a Hierro/metabolismo , Proteínas de la Membrana/metabolismo , Proteínas Mitocondriales/metabolismo , Receptores de Glutamato/metabolismo , Animales , Disulfuros/química , Glutamato Deshidrogenasa/química , Células Hep G2 , Humanos , Proteínas de Unión a Hierro/química , Hígado/química , Proteínas de la Membrana/química , Ratones , Proteínas Mitocondriales/química , Modelos Moleculares , Receptores de Glutamato/química
10.
Ann Emerg Med ; 62(2): 145-50, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23562776

RESUMEN

STUDY OBJECTIVE: Current methods of measuring hospital readmissions capture only inpatient-to-inpatient hospitalization and ignore return visits to the emergency department (ED) that do not result in an admission. The relative importance of the return ED visit is currently not well established. We conduct this study to characterize the frequency of ED utilization within 30 days of inpatient hospital discharge. METHODS: This was a retrospective cohort study conducted with administrative data from an urban academic center from January 1 to June 30, 2010. We included patient-level and visit-level data from both inpatient and ED databases. All inpatient discharges from January 1 to May 31, 2010, were followed forward to determine whether any ED visits occurred within the subsequent 30 days. Each time a patient was admitted, the 30-day clock was reset on subsequent discharge. RESULTS: There were 15,519 inpatient discharges during the study period, which included 11,976 unique patients. Nearly one quarter (n=3,695; 23.8%) of these discharges resulted in at least 1 ED visit within the subsequent 30 days (total return ED visits=4,077), and more than half of the subsequent ED visits (n=2,204; 54%) did not lead to hospital readmission. CONCLUSION: Excluding a return to the ED misses more than 50% of all returns to the acute level of care after discharge. Inclusion of ED visits as a return to the acute care setting may enhance providers' efforts to identify opportunities to improve care transitions and intervene in a cycle of frequent rehospitalizations.


Asunto(s)
Servicio de Urgencia en Hospital/estadística & datos numéricos , Alta del Paciente , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Boston , Niño , Preescolar , Estudios de Cohortes , Femenino , Encuestas de Atención de la Salud , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Alta del Paciente/normas , Alta del Paciente/estadística & datos numéricos , Garantía de la Calidad de Atención de Salud , Estudios Retrospectivos , Adulto Joven
11.
medRxiv ; 2023 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-36778409

RESUMEN

Sex differences in Parkinson Disease (PD) risk are well-known. However, it is still unclear the role of sex chromosomes in the development and progression of PD. We performed the first X-chromosome Wide Association Study (XWAS) for PD risk in Latin American individuals. We used data from three admixed cohorts: (i) Latin American Research consortium on the GEnetics of Parkinson's Disease (n=1,504) as discover cohort and (ii) Latino cohort from International Parkinson Disease Genomics Consortium (n = 155) and (iii) Bambui Aging cohort (n= 1,442) as replication cohorts. After developing a X-chromosome framework specifically designed for admixed populations, we identified eight linkage disequilibrium regions associated with PD. We fully replicated one of these regions (top variant rs525496; discovery OR [95%CI]: 0.60 [0.478 - 0.77], p = 3.13 × 10 -5 ; replication OR: 0.60 [0.37-0.98], p = 0.04). rs525496 is an expression quantitative trait loci for several genes expressed in brain tissues, including RAB9B, H2BFM, TSMB15B and GLRA4 . We also replicated a previous XWAS finding (rs28602900), showing that this variant is associated with PD in non-European populations. Our results reinforce the importance of including X-chromosome and diverse populations in genetic studies.

12.
Prehosp Emerg Care ; 16(1): 53-8, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22128907

RESUMEN

BACKGROUND: Occupational injuries are an important source of morbidity for emergency medical services (EMS) providers. Previous work has shown that employee perceptions of an organization's commitment to safety (i.e., safety climate) correlate with adherence to safe practices. OBJECTIVE: To assess the association between perceived safety climate and compliance with safety procedures in an urban EMS system with >100,000 calls/year. METHODS: EMS providers were issued a self-administered survey that included questions on demographics, years of experience, perceived safety climate, and adherence to safety procedures. Safety climate was assessed with a 20-item validated instrument. Adherence to safety procedures was assessed with a nine-item list of safety behaviors. Strict adherence to safety procedures was defined as endorsing "agree" or "strongly agree" on 80% of items. The effect of safety climate on compliance with safe practices was estimated using multiple logistic regression. RESULTS: One hundred ninety-six of 221 providers (89%) completed surveys; 74% were male; the median age was 36-40 years; and the median amount of experience was 8 years. One hundred twenty-seven of 196 respondents (65%) reported strict adherence to safe work practice. Factor analysis confirmed the original six-factor grouping of questions; frequent safety-related feedback/training was significantly associated with safe practices (odds ratio [OR] = 2.14, 95% confidence interval [CI] = 1.01-4.51). CONCLUSION: EMS workers perceiving a high degree of perceived safety climate was associated with twofold greater odds of self-reported level of strict adherence to safe work practices. Frequent safety-related feedback/training was the one dimension of safety climate that had the strongest association with adherence to safe workplace behaviors.


Asunto(s)
Actitud del Personal de Salud , Servicios Médicos de Urgencia/organización & administración , Salud Laboral , Cultura Organizacional , Percepción , Administración de la Seguridad/estadística & datos numéricos , Accidentes de Trabajo/prevención & control , Accidentes de Trabajo/estadística & datos numéricos , Adulto , Intervalos de Confianza , Estudios Transversales , Servicios Médicos de Urgencia/estadística & datos numéricos , Femenino , Encuestas de Atención de la Salud , Humanos , Modelos Logísticos , Masculino , Massachusetts , Administración de la Seguridad/métodos , Autoinforme , Estadística como Asunto , Encuestas y Cuestionarios , Estados Unidos , Población Urbana , Lugar de Trabajo/estadística & datos numéricos
13.
Mil Med ; 187(9-10): e1153-e1159, 2022 08 25.
Artículo en Inglés | MEDLINE | ID: mdl-35039866

RESUMEN

BACKGROUND: Emergency departments (EDs) continue to struggle with overcrowding, increasing wait times, and a surge in patients with non-urgent conditions. Patients frequently choose the ED for non-emergent medical issues or injuries that could readily be handled in a primary care setting. We analyzed encounters in the ED at the Brooke Army Medical Center-the largest hospital in the Department of Defense-to determine the percentage of visits that could potentially be managed in a lower cost, appointment-based setting. MATERIALS AND METHODS: We conducted a retrospective chart review of patients within our electronic medical record system from September 2019 to August 2020, which represented equidistance from the start of the COVID-19 pandemic, resulting in a shift in ED used based on previously published data. Our study also compared the number of ED visits pre-covid vs. post-covid. We defined visits to be primary care eligible if they were discharged home and received no computed tomography imaging, ultrasound, magnetic resonance imaging, intravenous medications, or intramuscular-controlled substances. RESULTS: During the 12 month period, we queried data on 75,205 patient charts. We categorized 56.7% (n = 42,647) of visits as primary care eligible within our chart review. Most primary-care-eligible visits were ESI level 4 (59.2%). The largest proportion of primary-care-eligible patients (28.3%) was seen in our fast-track area followed by our pediatric pod (21.9%). The total number of ED visits decreased from 7,477 pre-covid to 5,057 post-covid visits. However, the proportion of patient visits that qualified as primary care eligible was generally consistent. CONCLUSIONS: Over half of all ED visits in our dataset could be primary care eligible. Our findings suggest that our patient population may benefit from other on-demand and appointment-based healthcare delivery to decompress the ED.


Asunto(s)
COVID-19 , Servicio de Urgencia en Hospital , COVID-19/epidemiología , COVID-19/terapia , Niño , Atención a la Salud , Humanos , Pandemias , Estudios Retrospectivos
14.
Parkinsonism Relat Disord ; 102: 7-15, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35917738

RESUMEN

BACKGROUND: Large-scale Parkinson's disease (PD) genome-wide association studies (GWAS) have, until recently, only been conducted on subjects with European-ancestry. Consequently, polygenic risk scores (PRS) constructed using PD GWAS data are likely to be less predictive when applied to non-European cohorts. METHODS: Using GWAS data from the largest study to date, we constructed a PD PRS for a Latino PD cohort (1497 subjects from LARGE-PD) and tested it for association with PD status and age at onset. We validated the PRS performance by testing it in an independent Latino cohort (448 subjects) and by repeating the analysis in LARGE-PD with the addition of 440 external Peruvian controls. We also tested SNCA haplotypes for association with PD risk in LARGE-PD and a European-ancestry PD cohort. RESULTS: The GWAS-significant PD PRS had an area under the receiver-operator curve (AUC) of 0.668 (95% CI: 0.640-0.695) in LARGE-PD. The inclusion of external Peruvian controls mitigated this result, dropping the AUC 0.632 (95% CI: 0.607-0.657). At the SNCA locus, haplotypes differ by ancestry. Ancestry-specific SNCA haplotypes were associated with PD status in both LARGE-PD and the European-ancestry cohort (p-value < 0.05). These haplotypes both include the rs356182 G-allele, but only share 14% of their variants overall. CONCLUSION: The PD PRS has potential for PD risk prediction in Latinos, but variability caused by admixture patterns and bias in a European-ancestry PD PRS data limits its utility. The inclusion of diverse subjects can help elucidate PD risk loci and improve risk prediction in non-European cohorts.


Asunto(s)
Estudio de Asociación del Genoma Completo , Enfermedad de Parkinson , Predisposición Genética a la Enfermedad/genética , Haplotipos , Hispánicos o Latinos/genética , Humanos , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , alfa-Sinucleína/genética
15.
Med J (Ft Sam Houst Tex) ; (PB 8-21-04/05/06): 14-19, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34251660

RESUMEN

Airway management is one of the most challenging problems in prehospital combat casualty care. Airway assessment and intervention are second only to hemorrhage control in priority in the initial treatment of trauma patients, and airway compromise continues to account for approximately 1 in 10 preventable battlefield deaths. Combat medics often provide care in no- or low-light conditions, surrounded by the chaos of combat, and with the limited dexterity that accompanies bulky body armor, gloves, and heavy equipment. Far-forward medical care is also limited by available resources, which are often only what a combat medic can fit in the aid bag. Therefore, a procedure such as airway management that currently requires a high degree of skill becomes substantially more complex. Improved airway devices are listed among the top five in a comprehensive list of battlefield research and development priorities by the Defense Health Board, yet the challenge of airway management has received little investment compared to other causes of preventable battlefield death such as exsanguinating hemorrhage and traumatic brain injury.


Asunto(s)
Manejo de la Vía Aérea , Hemorragia , Hemorragia/prevención & control , Humanos
16.
Med J (Ft Sam Houst Tex) ; PB 8-21-04-05-06(PB 8-21-04-05-06): 78-82, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34251670

RESUMEN

BACKGROUND: Academic productivity is a requirement by the Accreditation Council for Graduate Medical Education (ACGME). In addition to the requirements by the ACGME, residency training programs are required to provide education on medical research with the end-goal of teaching physicians how to read, interpret, and apply medical evidence in the form of evidence-based medicine. An understanding of research design, evidencebased medicine, and critical appraisal of available literature is central to practicing medicine and applying new research to clinical practice. However, residency programs vary significantly in research curricula provided to residents. We describe an innovative integrated military-civilian emergency medicine research curriculum that provides foundational knowledge in research design and critical appraisal.


Asunto(s)
Medicina de Emergencia , Internado y Residencia , Médicos , Curriculum , Educación de Postgrado en Medicina , Medicina de Emergencia/educación , Humanos
17.
Med J (Ft Sam Houst Tex) ; (PB 8-21-07/08/09): 74-80, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34449865

RESUMEN

INTRODUCTION: Emergency department (ED) utilization continues to climb nationwide resulting in overcrowding, increasing wait times, and a surge in patients with non-urgent conditions. Patients frequently choose the ED for apparent non-emergent medical issues or injuries that after-the-fact could be cared for in a primary care setting. We seek to better understand the reasons why patients choose the ED over their primary care managers. METHODS: We prospectively surveyed patients that signed into the ED at the Brooke Army Medical Center as an emergency severity index of 4 or 5 (non-emergent triage) regarding their visit. We then linked their survey data to their ED visit including interventions, diagnoses, diagnostics, and disposition by using their electronic medical record. We defined their visit to be non-urgent and more appropriate for primary care, or primary care eligible, if they were discharged home and received no computed tomography (CT) imaging, ultrasound, magnetic resonance imaging (MRI), intravenous (IV) medications, or intramuscular (IM) controlled substances. RESULTS: During the 2-month period, we collected data on 208 participants out of a total of 252 people offered a survey (82.5%). There were 92% (n=191) that were primary care eligible within our respondent pool. Most reported very good (38%) or excellent (21%) health at baseline. On survey assessing why they came, inability to get a timely appointment (n=73), and a self-reported emergency (n=58) were the most common reported reasons. Most would have utilized primary care if they had a next-morning appointment available (n=86), but many reported they would have utilized the ED regardless of primary care availability (n=77). The most common suggestion for improving access to care was more primary care appointment availability (n=96). X-rays were the most frequent study (37%) followed by laboratory studies (20%). Before coming to the ED, 38% (n=78) reported trying to contact their primary care for an appointment. Before coming to the ED, 22% (n=46) reported contacting the nurse advice line. Based on our predefined model, 92% (n=191) of our respondents were primary care eligible within our respondent pool. CONCLUSIONS: Patient perceptions of difficulty obtaining appointments appear to be a major component of the ED use for non-emergent visits. Within our dataset, most patients surveyed stated they had difficulty obtaining a timely appointment or self-reported as an emergency. Data suggests most patients surveyed could be managed in the primary care setting.


Asunto(s)
Servicio de Urgencia en Hospital , Triaje , Citas y Horarios , Accesibilidad a los Servicios de Salud , Humanos , Atención Primaria de Salud
18.
Front Genet ; 12: 671079, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34630506

RESUMEN

In adulthood, the ability to digest lactose, the main sugar present in milk of mammals, is a phenotype (lactase persistence) observed in historically herder populations, mainly Northern Europeans, Eastern Africans, and Middle Eastern nomads. As the -13910∗T allele in the MCM6 gene is the most well-characterized allele responsible for the lactase persistence phenotype, the -13910C > T (rs4988235) polymorphism is commonly evaluated in lactase persistence studies. Lactase non-persistent adults may develop symptoms of lactose intolerance when consuming dairy products. In the Americas, there is no evidence of the consumption of these products until the arrival of Europeans. However, several American countries' dietary guidelines recommend consuming dairy for adequate human nutrition and health promotion. Considering the extensive use of dairy and the complex ancestry of Pan-American admixed populations, we studied the distribution of -13910C > T lactase persistence genotypes and its flanking haplotypes of European origin in 7,428 individuals from several Pan-American admixed populations. We found that the -13910∗T allele frequency in Pan-American admixed populations is directly correlated with allele frequency of the European sources. Moreover, we did not observe any overrepresentation of European haplotypes in the -13910C > T flanking region, suggesting no selective pressure after admixture in the Americas. Finally, considering the dominant effect of the -13910∗T allele, our results indicate that Pan-American admixed populations are likely to have higher frequency of lactose intolerance, suggesting that general dietary guidelines deserve further evaluation across the continent.

19.
Mil Med ; 175(8): 622-4, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20731270

RESUMEN

We present the case of a young woman presenting to a military field hospital in Afghanistan with a non-ST-elevation myocardial infarction (NSTEMI) associated with the diet drug sibutramine. We also provide a brief literature review on the association between sibutramine and myocardial infarction.


Asunto(s)
Depresores del Apetito/efectos adversos , Ciclobutanos/efectos adversos , Infarto del Miocardio/inducido químicamente , Adulto , Afganistán , Diagnóstico Diferencial , Electrocardiografía , Femenino , Humanos , Infarto del Miocardio/diagnóstico
20.
Clin Pract Cases Emerg Med ; 4(3): 450-453, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32926710

RESUMEN

INTRODUCTION: Rectal foreign bodies (RFB) pose a challenge to emergency physicians. Patients are not often forthcoming, which can lead to delays to intervention. Thus, RFBs require a heightened clinical suspicion. In the emergency department (ED), extraction may require creative methods to prevent need for surgical intervention. CASE REPORT: The authors present a case of a successful extraction of a RFB in the ED and review of the literature. CONCLUSION: Retained RFBs are an unusually problematic reason for an ED visit. Thus, it is important for emergency physicians to be comfortable managing such cases appropriately.

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