19 results on '"Ojeda, MM"'
Search Results
2. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
- Author
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Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, Messiaen, LM, Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, and Messiaen, LM
- Abstract
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% of unrelated NF1 individuals. About 25% (95% confidence interval: 20.5-31.2%) of individuals heterozygous for a pathogenic NF1 p.Met1149, p.Arg1276, or p.Lys1423 missense variant had a Noonan-like phenotype, which is significantly more compared with the "classic" NF1-affected cohorts (all p < .0001). Furthermore, p.Arg1276 and p.Lys1423 pathogenic missense variants were associated with a high prevalence of cardiovascular abnormalities, including pulmonic stenosis (all p < .0001), while p.Arg1276 variants had a high prevalence of symptomatic spinal neurofibromas (p < .0001) compared with "classic" NF1-affected cohorts. However, p.Met1149-positive individuals had a mild phenotype, characterized mainly by pigmentary manifestations without externally visible plexiform neurofibromas, symptomatic spinal neurofibromas or symptomatic optic pathway gliomas. As up to 0.4% of unrelated individuals in the UAB cohort carries a p.Met1149 missense variant, this finding will contribute to more accurate stratification of a significant number of NF1 individuals. Although clinically relevant genotype-phenotype correlations are rare in NF1, each affecting only a small percentage of individuals, together they impact counseling and management of a significant number of the NF1 population.
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- 2020
3. Treatment of Trochanteric Hip Fractures with Cephalomedullary Nails: Single Head Screw vs. Dual Integrated Compression Screw Systems.
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Méndez-Ojeda MM, Herrera-Rodríguez A, Álvarez-Benito N, González-Pacheco H, García-Bello MA, Álvarez-de la Cruz J, and Pais-Brito JL
- Abstract
Extracapsular hip fractures are very common in the elderly. They are mainly treated surgically with an intramedullary nail. Nowadays, both endomedullary hip nails with single cephalic screw systems and interlocking double screw systems are available on the market. The latter are supposed to increase rotational stability and therefore decrease the risk of collapse and cut-out. A retrospective cohort study was carried out, in which 387 patients with extracapsular hip fracture undergoing internal fixation with an intramedullary nail were included to study the occurrence of complications and reoperations. Of the 387 patients, 69% received a single head screw nail and 31% received a dual integrated compression screw nail. The median follow-up was 1.1 years, and in that time, a total of 17 reoperations were performed (4.2%; 2.1% for single head screw nails vs. 8.7% for double head screws). According to the multivariate logistic regression model adjusted for age, sex and basicervical fracture, the adjusted hazard risk of reoperation required was 3.6 times greater when using double interlocking screw systems ( p = 0.017). A propensity scores analysis confirmed this finding. In conclusion, despite the potential benefits of using two interlocking head screw systems and the increased risk of reoperation in our single center, we encourage to other researchers to explore this question in a wider multicenter study.
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- 2023
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4. Diabetes Mellitus and Obesity as Prognostic Factors in Arthroscopic Repair of Chronic Rotator Cuff Tears.
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Álvarez de la Cruz J, Méndez Ojeda MM, Álvarez Benito N, Herrera Rodríguez A, Pais Brito JL, and Márquez Marfil FJ
- Abstract
Metabolic diseases such as obesity and diabetes mellitus seem to have an influence on reoperation and long-term functional outcomes after arthroscopic repair of chronic rotator cuff tears. High prevalence of these pathologies can be found in the Canary Islands. A retrospective cohort study was carried out, in which 80 patients undergoing shoulder arthroscopic surgery for the repair of chronic rotator cuff tears were included, with a minimum follow up of 5 years, to study the occurrence of complications, reoperation, and functional outcomes. Functionality after surgery improved in 75% of patients with diabetes and remained the same or worsened in 25% (OR = 1.444). In the group of non-diabetic patients, 83.9% had improved function after surgery while it remained the same or worsened in 16.1% (OR = 0.830). Functionality after surgery improved in 76.6% of obese patients and remained the same or worsened in 23.4% (OR = 1.324). In the non-obese group, 87.9% had improved function after surgery, while it remained the same or worsened in 12.1% (OR = 0.598). Despite not obtaining statistically significant differences, the analysis of the results obtained suggests that obesity and diabetes could act by decreasing the subjective improvement in functionality after surgery, and, in the case of obesity, also increase the risk of reoperation.
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- 2023
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5. Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.
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Wojcik MH, Bresnahan M, Del Rosario MC, Ojeda MM, Kritzer A, and Fraiman YS
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- Humans, Retrospective Studies, Referral and Consultation, Healthcare Disparities, Rare Diseases diagnosis, Rare Diseases genetics, Limited English Proficiency
- Abstract
Background: Identifying a precise genetic diagnosis can improve outcomes for individuals with rare disease, though the resources required to do so may impede access and exacerbate healthcare disparities leading to inequitable care. Our objective was therefore to determine the effect of multiple sociodemographic factors on the yield of the diagnostic evaluation for genetics outpatients., Methods: This is a retrospective cohort study from 2017 to 2019 of outpatient genetics referrals at a pediatric academic tertiary care center. Exposures included: primary language, insurance type, and neighborhood resources (via the Childhood Opportunity Index, COI). The primary outcome was identification of a genetic diagnosis within 2 years of the initial clinic visit., Results: COI quintile was not significantly associated with the odds of diagnosis but was significantly associated with clinic attendance, with lower neighborhood resources leading to incomplete referrals. Limited English proficiency was associated with a higher odds of diagnosis, though at an older age. Public insurance was associated with increased access to genetic testing., Conclusions: Lower neighborhood resources are negatively associated with clinic attendance. Our findings further suggest delays in care and a referral bias for more severe phenotypes among families with limited English proficiency. Improved access to clinical genetics is needed to improve diagnostic equity., Impact: The resources required to identify a genetic diagnosis may impede access and exacerbate healthcare disparities leading to inequitable care. In an analysis of pediatric outpatient genetics referrals, we observed a significant association between neighborhood resources and clinic attendance but not diagnostic yield for those attending, and a higher diagnostic yield for families with limited English proficiency, suggesting referral bias for more severe phenotypes. Thus, the primary barrier to finding a genetic diagnosis was initiation of care, not the ensuing diagnostic odyssey. Further research efforts should be directed at increasing access to clinical genetics evaluations for children with rare disease., (© 2022. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.)
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- 2023
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6. The Experience of Women With Opioid Use Disorder Accessing Methadone Treatment.
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Keenan LC, Ojeda MM, and Valdez A
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- Female, Humans, Canada, Health Personnel, Self Care, Methadone, Opioid-Related Disorders
- Abstract
Abstract: The number of women experiencing opioid use disorder (OUD) in Canada has increased exponentially. In Canada, healthcare is socialized and free for all citizens and, often, medications like methadone are free as well, yet few individuals with OUD access treatment services. The purpose of this study was to describe the lived experiences of Canadian women with OUD who were receiving methadone treatment. Interpretive phenomenology was used to investigate the treatment experiences of seven women with OUD. The conceptual framework of self-care of chronic illness was used to examine this phenomenon. Data were analyzed using a seven-step process of interpretive phenomenological analysis. Four major themes emerged: learning how to be you again, reaching out for help, finding your way to methadone, and going down the path of methadone. Women's experiences were influenced by family, friends, and healthcare providers. Accessibility and self-determination were important factors in entering and sustaining treatment. This study contributes to the discipline of nursing by providing accurate information regarding women's experiences with OUD and uncovering practice changes that can attract and retain women in treatment., Competing Interests: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article., (Copyright © 2023 International Nurses Society on Addictions.)
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- 2023
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7. The Effects of Diabetes Self-Management Education on Quality of Life for Persons With Type 1 Diabetes: A Systematic Review of Randomized Controlled Trials.
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Davidson P, LaManna J, Davis J, Ojeda MM, Hyer S, Dickinson JK, Todd A, Hammons TM, Mohammed Fahim S, McDaniel CC, McKee CA, Clements JN, Yehl K, Litchman ML, Blanchette JE, and Kavookjian J
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- Chronic Disease, Humans, Quality of Life, Randomized Controlled Trials as Topic, Diabetes Mellitus, Type 1 therapy, Self-Management education
- Abstract
Purpose: It is well documented that chronic conditions, such as diabetes, impact quality of life (QoL). QoL assessment is essential when developing and evaluating diabetes self-management education support interventions. The aim of this systematic review was to evaluate the evidence and gaps in the research and the impact of diabetes self-management education (DSME) on QoL outcomes in persons with type 1 diabetes mellitus (T1DM)., Methods: A systematic review of English language studies published between January 1, 2007, and March 31, 2020, was conducted using a modified Cochrane review method. Studies were included if they were randomized controlled trials (RCTs), participants had T1DM with or without caregivers, a DSME intervention alone or a component(s) of the ADCES7™ Self-Care Behaviors was described, and QoL was a primary or secondary outcome. A 3-tiered review process was utilized for selecting articles. Retained articles were assessed for risk of bias., Results: Nineteen articles, reporting on 17 RCTs, met inclusion criteria, of which 7 studies reported QoL as the primary outcome and 10 as a secondary outcome. Seven studies detected significant impact of DMSE on QoL outcomes in either the participants or family caregivers, which varied in participant populations, selection of QoL tools (generic vs diabetes-specific), intervention type, intervention length, and type of interventionist., Conclusion: DSME has the potential to influence QoL outcomes in people with T1DM. Research using more standardized methods are needed to delineate impact on a broader range of factors that influence QoL for those living with T1DM across the life span and their caregivers.
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- 2022
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8. Conversion of the OmpF Porin into a Device to Gather Amyloids on the E. coli Outer Membrane.
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Vendrell-Fernández S, Lozano-Picazo P, Cuadros-Sánchez P, Tejero-Ojeda MM, and Giraldo R
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- Amyloid metabolism, Animals, Bacterial Outer Membrane Proteins genetics, Bacterial Outer Membrane Proteins metabolism, Escherichia coli genetics, Escherichia coli metabolism, Mammals metabolism, Peptides metabolism, Porins chemistry, Prions metabolism
- Abstract
Protein amyloids are ubiquitous in natural environments. They typically originate from microbial secretions or spillages from mammals infected by prions, currently raising concerns about their infectivity and toxicity in contexts such as gut microbiota or soils. Exploiting the self-assembly potential of amyloids for their scavenging, here, we report the insertion of an amyloidogenic sequence stretch from a bacterial prion-like protein (RepA-WH1) in one of the extracellular loops (L5) of the abundant Escherichia coli outer membrane porin OmpF. The expression of this grafted porin enables bacterial cells to trap on their envelopes the same amyloidogenic sequence when provided as an extracellular free peptide. Conversely, when immobilized on a surface as bait, the full-length prion-like protein including the amyloidogenic peptide can catch bacteria displaying the L5-grafted OmpF. Polyphenolic molecules known to inhibit amyloid assembly interfere with peptide recognition by the engineered OmpF, indicating that this is compatible with the kind of homotypic interactions expected for amyloid assembly. Our study suggests that synthetic porins may provide suitable scaffolds for engineering biosensor and clearance devices to tackle the threat posed by pathogenic amyloids.
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- 2022
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9. Epithelioma cuniculatum of the sole of the foot mimicking an infection.
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Méndez-Ojeda MM, Corona Pérez-Cardona P, Herrera-Pérez M, and Pais-Brito J
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- Aged, Amputation, Surgical, Child, Preschool, Foot, Humans, Bone Neoplasms, Carcinoma, Verrucous, Foot Diseases diagnosis, Foot Diseases surgery
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Epithelioma cuniculatum is characterized as a slow growing lesion on the sole of the foot. A diagnosis is usually delayed by a low clinical suspicion and misdirection due to its similarity to an infection. This tumor rarely metastasize but a local invasion of adjacent soft tissues is common, requiring ample surgical resection or even amputation in advanced cases. We report a case a 76-year-old patient with a 5-year-old lesion on the sole of the foot, which was originally treated as a wart without improvement while the lesion slowly evolved. The patient was referred to our center with a diagnosis of chronic osteomyelitis. An excisional biopsy revealed an invasive keratinizing squamous carcinoma. In this advanced phase of the disease the only possible treatment was a Syme amputation.
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- 2021
10. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
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Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, and Messiaen LM
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- Adolescent, Adult, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Learning Disabilities physiopathology, Male, Mutation, Missense genetics, Neurofibroma, Plexiform physiopathology, Neurofibromatosis 1 pathology, Sequence Deletion, Young Adult, Learning Disabilities genetics, Neurofibroma, Plexiform genetics, Neurofibromatosis 1 genetics, Neurofibromin 1 genetics
- Abstract
Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors., Methods: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study., Results: None of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_2972del., Conclusion: We demonstrate that individuals with the NF1 p.Met992del pathogenic variant have a mild NF1 phenotype lacking clinically suspected plexiform, cutaneous, or subcutaneous neurofibromas. However, learning difficulties are clearly part of the phenotypic presentation in these individuals and will require specialized care.
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- 2019
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11. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
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Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, and Messiaen LM
- Abstract
A correction has been published to this Article. The PDF and HTML have been updated accordingly.
- Published
- 2019
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12. Experience using the «Shetty test» for initial foot and ankle fracture screening in the Emergency Department.
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Ojeda-Jiménez J, Méndez-Ojeda MM, Martín-Vélez P, Tejero-García S, Pais-Brito JL, and Herrera-Pérez M
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- Adolescent, Adult, Aged, Aged, 80 and over, Cross-Sectional Studies, Female, Foot Bones diagnostic imaging, Humans, Male, Middle Aged, Radiography, Sensitivity and Specificity, Young Adult, Ankle Fractures diagnosis, Emergency Service, Hospital, Foot Bones injuries, Physical Examination methods
- Abstract
Objective: The indiscriminate practice of radiographs for foot and ankle injuries is not justified and numerous studies have corroborated the usefulness of clinical screening tests such as the Ottawa Ankle Rules. The aim of our study is to clinically validate the so-called Shetty Test in our area., Material and Method: A cross-sectional observational study by applying the Shetty test to patients seen in the Emergency Department., Results: We enrolled 100 patients with an average age of 39.25 (16-86). The Shetty test was positive on 14 occasions. Subsequent radiography revealed a fracture in 10 cases: 4 were false positives. The test was negative in the remaining 86 patients and radiography confirmed the absence of fracture (with sensitivity of 100% and specificity of 95.56%, positive predictive value of 71.40%, and negative predictive value of 100%)., Conclusions: The Shetty test is a valid clinical screening tool to decide whether simple radiography is indicated for foot and ankle injuries. It is a simple, quick and reproducible test., (Copyright © 2018 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.)
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- 2018
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13. Increasing RN Perceived Competency With Substance Use Disorder Patients.
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Russell R, Ojeda MM, and Ames B
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- Adult, Curriculum, Female, Health Knowledge, Attitudes, Practice, Humans, Male, Middle Aged, Surveys and Questionnaires, Attitude of Health Personnel, Clinical Competence, Education, Nursing, Continuing organization & administration, Nursing Staff education, Nursing Staff psychology, Psychiatric Nursing education, Substance-Related Disorders nursing
- Abstract
Background: Although behavioral health and substance use disorder patients visit hospitals in significant numbers, nurses are often ill-prepared to care for them., Method: The purpose of this quasi-experimental preclass-postclass design was to determine the effects of an educational intervention on the perceived competency of 57 nurses who care for patients with behavioral and substance abuse disorders. The nurses who chose to participate were asked to respond to a demographic questionnaire and a survey designed to measure perceived competency. Survey data were analyzed to determine whether any differences (alpha = .05) existed between participants' attitudes and knowledge preclass and postclass., Results: Immediately following the educational intervention, a statistically significant increase was found in perceived competency related to self-confidence, attitudes, communication, and knowledge of resource availability among participating nurses., Conclusion: Nurses working in acute care hospitals, particularly those without addiction and psychiatric services, may benefit from continuing education on this important topic. J Contin Nurs Educ. 2017;48(4):175-183., (Copyright 2017, SLACK Incorporated.)
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- 2017
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14. An assessment of palliative care beliefs and knowledge: the healthcare provider's perspective.
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Patten YA, Ojeda MM, and Lindgren CL
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- Florida, Humans, Surveys and Questionnaires, Attitude of Health Personnel, Clinical Competence, Inservice Training, Palliative Care
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Research shows that healthcare providers' palliative care training and their misconceptions impact the delivery of care. As a result, the need for continuing education with adequate training is paramount to improve their knowledge and confidence in addressing the needs of patients and families facing serious illnesses. A pre-experimental static-group comparison design was used to determine if there was a significant difference in perceived competency and knowledge between healthcare providers who participated in a palliative care training programme and those who did not. A non-randomised sample of healthcare providers were administered a questionnaire to assess perceived competence and knowledge. Responses from 388 participants revealed a significant association between perceived competency and knowledge scores. The authors concluded that participation in a palliative care programme makes a significant difference in the healthcare provider's knowledge. However, further exploration is necessary to deduce the underlying reason for the negative association between perceived competency and knowledge.
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- 2016
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15. Carbohydrate Counting in the Acute Care Setting: Development of an Educational Program Based on Cognitive Load Theory.
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Ojeda MM
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- Diabetes Mellitus diet therapy, Diabetes Mellitus nursing, Dietary Carbohydrates administration & dosage, Female, Humans, Learning, Middle Aged, Models, Educational, Nursing Assistants education, Nursing Staff, Hospital education, Psychological Theory
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The care of noncritically ill hospitalized patients with diabetes mellitus requiring insulin administration is multidisciplinary and complex. Evidence indicates that staff nurses may benefit from additional training in the nutritional management of patients with diabetes. In addition, unlicensed assistive personnel may be involved in the feeding and point-of-care testing of diabetic patients and thus play an important role in nursing care of such patients. Cognitive load theory assists educators in the identification of specific cognitive challenges that learners may face when presented with new material, but it also presents solutions to such challenges by way of specific instructional design methods to help overcome them. An educational program was piloted on a mixed audience of registered nurses and unlicensed assistive personnel at a community hospital; satisfaction with the program was found to be high.
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- 2016
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16. A novel mutation in the POLE2 gene causing combined immunodeficiency.
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Frugoni F, Dobbs K, Felgentreff K, Aldhekri H, Al Saud BK, Arnaout R, Ali AA, Abhyankar A, Alroqi F, Giliani S, Ojeda MM, Tsitsikov E, Pai SY, Casanova JL, Notarangelo LD, and Manis JP
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- Child, Preschool, DNA Mutational Analysis, Fatal Outcome, Humans, Lymphocytes immunology, Lymphocytes metabolism, Male, Severe Combined Immunodeficiency diagnosis, DNA Polymerase II genetics, Mutation, Severe Combined Immunodeficiency genetics, Severe Combined Immunodeficiency immunology
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- 2016
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17. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
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Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, and Bayrak-Toydemir P
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- Female, Humans, Male, Marfan Syndrome genetics, Marfan Syndrome pathology, Aortic Diseases pathology, Marfan Syndrome diagnosis, Sequence Analysis, DNA methods
- Abstract
Aortopathy can be defined as aortic dilation, aneurysm, dissection, and tortuosity. Familial aortopathy may occur secondary to fibrillin-1 (FBN1) mutations in the setting of Marfan syndrome, or may occur as a result of other genetic defects with different, but occasionally overlapping, phenotypes. Because of the phenotypic overlap and genetic heterogeneity of disorders featuring aortopathy, we developed a next generation sequencing (NGS) assay and comparative genomic hybridization (CGH) array to detect mutations in 10 genes that cause thoracic aortic aneurysms (TAAs). Here, we report on the clinical and molecular findings in 175 individuals submitted for aortopathy panel testing at ARUP laboratories. Ten genes associated with heritable aortopathies were targeted using hybridization capture prior to sequencing. NGS results were analyzed, and variants were confirmed using Sanger sequencing. Array CGH was used to detect copy-number variation. Of 175 individuals, 18 had a pathogenic mutation and 32 had a variant of uncertain significance (VUS). Most pathogenic mutations (72%) were identified in FBN1. A novel large SMAD3 duplication and FBN1 deletion were identified. Over half who had TAAs or other aortic involvement tested negative for a mutation, suggesting that additional aortopathy genes exist. We anticipate that the clinical sensitivity of at least 10.3% will rise with VUS reclassification and as additional genes are identified and included in the panel. The aortopathy NGS panel aids in the timely molecular diagnosis of individuals with disorders featuring aortopathy and guides proper treatment., (© 2015 Wiley Periodicals, Inc.)
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- 2015
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18. Specialization clines in the pollination systems of agaves (Agavaceae) and columnar cacti (Cactaceae): A phylogenetically controlled meta-analysis.
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Munguía-Rosas MA, Sosa VJ, Ojeda MM, and De-Nova JA
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The biogeography of plant-animal interactions is a novel topic on which many disciplines converge (e.g., reproductive biology, biogeography, and evolutionary biology). Narrative reviews have indicated that tropical columnar cacti and agaves have highly specialized pollination systems, while extratropical species have generalized systems. However, this dichotomy has never been quantitatively tested. We tested this hypothesis using traditional and phylogenetically informed meta-analysis. Three effect sizes were estimated from the literature: diurnal, nocturnal, and hand cross-pollination (an indicator of pollen limitation). Columnar cactus pollination systems ranged from purely bat-pollinated in the tropics to generalized pollination, with diurnal visitors as effective as nocturnal visitors in extratropical regions; even when phylogenetic relatedness among species is taken into account. Metaregressions identified a latitudinal increase in pollen limitation in columnar cacti, but this increase was not significant after correcting for phylogeny. The currently available data for agaves do not support any latitudinal trend. Nectar production of columnar cacti varied with latitude. Although this variation is positively correlated with pollination by diurnal visitors, it is influenced by phylogeny. The degree of specificity in the pollination systems of columnar cacti is heavily influenced by ecological factors and has a predictable geographic pattern.
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- 2009
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19. Picture of the month: diagnosis.
- Author
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Hernandez-Machin B, Reyes CS, Vargas MM, and Hernando LB
- Subjects
- Adult, Antifungal Agents therapeutic use, Candidiasis, Cutaneous drug therapy, Candidiasis, Cutaneous etiology, Female, Humans, Infant, Newborn, Male, Nystatin therapeutic use, Pregnancy, Pregnancy Complications, Infectious, Vulvovaginitis complications, Candidiasis, Cutaneous congenital, Candidiasis, Cutaneous diagnosis
- Published
- 2007
- Full Text
- View/download PDF
Catalog
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