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As the use of teprotumumab for thyroid eye disease (TED) becomes more prolific, there remains a scarcity of literature regarding the associated side effects and adverse events of teprotumumab use. The authors present a single-center retrospective, observational case review of TED patients who received at least a single dose of teprotumumab infusion at the oculofacial plastic surgery service between February 2020 and July 2023. The most predominant recollected side effects were fatigue, brittle nails, dry eye symptoms, hair loss, muscle spasms, and dry mouth. Significant adverse events were limited to two cases of a blood clot and a single case of pulmonary embolism. This is the first retrospective study of patient-reported side effects and adverse events experienced by a cohort of teprotumumab users.
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Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial. These diseases are most often the result of defects in rod and/or cone photoreceptor and retinal pigment epithelium function, development, or both. The genes associated with these diseases, when mutated, produce altered protein products that have downstream effects in pathways critical to vision, including phototransduction, the visual cycle, photoreceptor development, cellular respiration, and retinal homeostasis. The aim of this manuscript is to provide a comprehensive review of the underlying molecular mechanisms of pathogenesis of IRDs by delving into many of the genes associated with IRD development, their protein products, and the pathways interrupted by genetic mutation.
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Distrofias Retinianas , Humanos , Distrofias Retinianas/genética , Distrofias Retinianas/metabolismo , Retina/metabolismo , Células Fotorreceptoras Retinianas Conos , Mutación , Visión OcularRESUMEN
Metabolic systems form the very foundation of life and as such are broadly taught in the molecular life sciences. Here, we describe the biochemistry educator community-based development and use of an assessment instrument designed to evaluate students' ideas about metabolic pathway dynamics and regulation in undergraduate biochemistry courses. Analysis of student responses showed that most students were able to interpret visual representations in an unfamiliar metabolic pathway and that many could make basic predictions about how the system would be expected to respond to changes. However, fewer students generated nuanced responses that accounted for both microscopic changes at the protein level and macroscopic changes in pathway product outputs. These findings identify some of the challenges of meaningfully assessing students' understanding of metabolic pathways and could inform how instructors think about teaching and assessing metabolism in undergraduate biochemistry and beyond. The results also suggest future avenues for biochemistry education research.
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Bioquímica , Estudiantes , Humanos , Redes y Vías MetabólicasRESUMEN
OBJECTIVE: To examine the impact of acute classroom movement break (CMB) and physically active learning (PAL) interventions on physical activity (PA), cognition, academic performance and classroom behaviour. DESIGN: Systematic review. DATA SOURCES: PubMed, EBSCO, Academic Search Complete, Education Resources Information Center, PsycINFO, SPORTDiscus, SCOPUS and Web of Science. ELIGIBILITY CRITERIA FOR SELECTING STUDIES: Studies investigating school-based acute bouts of CMB or PAL on (PA), cognition, academic performance and classroom behaviour. The Downs and Black checklist assessed risk of bias. RESULTS: Ten PAL and eight CMB studies were identified from 2929 potentially relevant articles. Risk of bias scores ranged from 33% to 64.3%. Variation in study designs drove specific, but differing, outcomes. Three studies assessed PA using objective measures. Interventions replaced sedentary time with either light PA or moderate-to-vigorous PA dependent on design characteristics (mode, duration and intensity). Only one study factored individual PA outcomes into analyses. Classroom behaviour improved after longer moderate-to-vigorous (>10 min), or shorter more intense (5 min), CMB/PAL bouts (9 out of 11 interventions). There was no support for enhanced cognition or academic performance due to limited repeated studies. CONCLUSION: Low-to-medium quality designs predominate in investigations of the acute impacts of CMB and PAL on PA, cognition, academic performance and classroom behaviour. Variable quality in experimental designs, outcome measures and intervention characteristics impact outcomes making conclusions problematic. CMB and PAL increased PA and enhanced time on task. To improve confidence in study outcomes, future investigations should combine examples of good practice observed in current studies. PROSPERO REGISTRATION NUMBER: CRD42017070981.
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INTRODUCTION: Medical Emergency Response Team (MERT) helicopters fly at altitudes of 3000 m in Afghanistan (9843 ft). Civilian hospitals and disaster-relief surgical teams may have to operate at such altitudes or even higher. Mild hypoxia has been seen to affect the performance of novel tasks at flight levels as low as 5000 ft. Aeromedical teams frequently work in unpressurized environments; it is important to understand the implications of this mild hypoxia and investigate whether supplementary oxygen systems are required for some or all of the team members. METHODS: Ten UK orthopedic surgeons were recruited and in a double blind randomized experimental protocol, were acutely exposed for 45 min to normobaric hypoxia [fraction of inspired oxygen (FIo2) â¼14.1%, equivalent to 3000 m (10,000 ft)] or normobaric normoxia (sea-level). Basic physiological parameters were recorded. Subjects completed validated tests of verbal working memory capacity (VWMC) and also applied an orthopedic external fixator (Hoffmann® 3, Stryker, UK) to a plastic tibia under test conditions. RESULTS: Significant hypoxia was induced with the reduction of FIo2 to â¼14.1% (Spo2 87% vs. 98%). No effect of hypoxia on VWMC was observed. The pin-divergence score (a measure of frame asymmetry) was significantly greater in hypoxic conditions (4.6 mm) compared to sea level (3.0 mm); there was no significant difference in the penetrance depth (16.9 vs. 17.2 mm). One hypoxic frame would have failed early. DISCUSSION: We believe that surgery at an altitude of 3000 m, when unacclimated individuals are acutely exposed to atmospheric hypoxia for 45 min, can likely take place without supplemental oxygen use but further work is required.Parker PJ, Manley AJ, Shand R, O'Hara JP, Mellor A. Working memory capacity and surgical performance while exposed to mild hypoxic hypoxemia. Aerosp Med Hum Perform. 2017; 88(10):918-923.
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Fijadores Externos , Fijación de Fractura , Hipoxia/fisiopatología , Memoria a Corto Plazo/fisiología , Cirujanos Ortopédicos , Análisis y Desempeño de Tareas , Altitud , Método Doble Ciego , Humanos , Reino UnidoRESUMEN
Neuroimaging and genomic analysis greatly aid in the identification of young-onset dementia antemortem. We present the case of a 33-year-old female with a 2-year rapid decline to dementia and immobility marked by personality change, executive deficits including compulsions, attention deficit, apraxia, Parkinsonism, and pyramidal signs. She had unique and dramatic calcifications and confluent white matter changes on imaging and was found to have a novel mutation in the colony stimulating factor 1 receptor gene causing adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Here, we review ALSP and briefly discuss differential diagnoses.
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Demencia/diagnóstico , Lóbulo Frontal/patología , Leucoencefalopatías/diagnóstico , Receptores de Factor Estimulante de Colonias de Granulocitos y Macrófagos/genética , Adulto , Edad de Inicio , Calcinosis/patología , Demencia/genética , Demencia/patología , Demencia/fisiopatología , Femenino , Lóbulo Frontal/diagnóstico por imagen , Humanos , Leucoencefalopatías/genética , Leucoencefalopatías/patología , Leucoencefalopatías/fisiopatologíaRESUMEN
OBJECTIVE: To assess the extent to which the title and font of participant information sheets (PISs) can influence pregnant women's and trainee midwives' perceptions of an antenatal intervention. METHODS: Pregnant women (n=35) and trainee midwives (n=36) were randomly presented with one of four PISs where the title and font of the PIS had been manipulated to create four experimental conditions (i.e., Double Fluent; Double Awkward; Fluent Title-Awkward Font; Awkward Title-Fluent Font). After reading the PIS, participants rated their perceptions of the intervention (i.e., Attractiveness, Complexity, Expected Risk, Required Effort) using five-point Likert scales. RESULTS: A 4×2 factorial multivariate analysis of variance revealed that pregnant women rated the Double Awkward condition as significantly more complex than the Double Fluent (p=.024) and Awkward Title-Fluent Font (p=.021) conditions. CONCLUSION: Font influenced pregnant women's ratings of intervention complexity. PRACTICE IMPLICATIONS: Results have implications for ethical recruitment, and in turn, the optimisation of corresponding interventions.
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Folletos , Selección de Paciente , Mujeres Embarazadas/psicología , Lectura , Adulto , Femenino , Humanos , Partería , Análisis Multivariante , Embarazo , Atención Prenatal/métodosRESUMEN
BACKGROUND AND PURPOSE: By pareidolically recognizing specific patterns indicative of particular diseases, neuroimagers reinforce their mnemonic strategies and improve their neuroimaging diagnostic skills. Joubert Syndrome (JS) is an autosomal recessive disorder characterized clinically by mental retardation, episodes of abnormal deep and rapid breathing, abnormal eye movements, and ataxia. Many neuroimaging signs characteristic of JS have been reported. METHODS: In retrospective case study, two consanguineous neonates diagnosed with JS were evaluated with brain magnetic resonance imaging (MRI), computed tomography (CT), and neurosonography. RESULTS: Both cranial ultrasound and MRI of the brain showed the characteristic molar tooth sign. There was a shepherd's crook in the sagittal views of the posterior fossa where the shaft of the crook is made by the brainstem and the pons. The arc of the crook is made by the abnormal superior cerebellar peduncle and cerebellar hemisphere. By ultrasound, the shepherd's crook sign was seen through the posterior fontanelle only. CT imaging also showed the shepherd's crook sign. CONCLUSIONS: Neuroimaging diagnosis of JS, which already involves the pareidolical recognition of specific patterns indicative of the disease, can be improved by recognition of the shepherd's crook sign on MRI, CT, and cranial ultrasound.
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Encéfalo/patología , Cerebelo/anomalías , Neuroimagen/métodos , Retina/anomalías , Anomalías Múltiples/diagnóstico , Ecoencefalografía/métodos , Anomalías del Ojo/diagnóstico , Femenino , Humanos , Recién Nacido , Enfermedades Renales Quísticas/diagnóstico , Imagen por Resonancia Magnética/métodos , MasculinoRESUMEN
OBJECTIVES: To compare the erosion protection efficacy of a stabilised, stannous fluoride (SnF2 ) dentifrice versus a sodium fluoride (NaF) dentifrice using a modified in situ clinical model. METHODS: This study, a randomised parallel group in situ design with in vivo product use and ex vivo acid challenge, compared: A, a dentifrice containing 1,450 ppm F as NaF; B, a dentifrice containing 1,450 ppm F (1,100 ppm F as SnF2 + 350 ppm F as NaF); and T, tap water. Sample size was n = 4 per group (total of 12 subjects) and within each subject appliances were placed on each side of the mouth (left and right). Enamel specimens were placed in different positions of the mouth (front, mid-front, mid-rear, rear) in each appliance (total = 8 specimens per subject). Product treatment was twice per day (lingual brushing for 30 seconds followed by swishing for 90 seconds with the resultant product/saliva slurry) in vivo for 15 days, and ex vivo acid treatment (0.02 m citric acid 5 minutes four times per day; total exposure time = 300 minutes). Data were analysed using a general linear repeated measures model with treatment, side and position as fixed effects. Within subjects, correlations were modelled assuming a different correlation and variance for treatment B relative to the other groups. Pairwise treatment differences were performed using a 5% two-sided significance level. RESULTS: Enamel loss (in µm) was significantly lower (P < 0.005) for treatment B versus treatments A and T. Treatment B reduced enamel surface loss by 86.9% relative to treatment A. There was no statistical difference in mean enamel loss (P = 0.51) between treatments A and T. Enamel loss was not statistically different for side (left vs. right; P = 0.44) or position (front, mid-front, mid-rear, rear; P = 0.36). CONCLUSION: This modified in situ erosion model confirmed the enhanced erosion protection benefits of a stabilised SnF2 dentifrice versus a conventional NaF dentifrice, validating the ability of the model to safely and effectively demonstrate differences in the erosion protection potential of oral care products.
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Dentífricos/uso terapéutico , Fluoruros de Estaño/uso terapéutico , Erosión de los Dientes/prevención & control , Ácido Cítrico/efectos adversos , Esmalte Dental/efectos de los fármacos , Esmalte Dental/patología , Humanos , Concentración de Iones de Hidrógeno , Proyectos Piloto , Sustancias Protectoras/uso terapéutico , Saliva/fisiología , Método Simple Ciego , Fluoruro de Sodio/uso terapéutico , Factores de Tiempo , Erosión de los Dientes/patología , Cepillado Dental/instrumentación , Cepillado Dental/métodosRESUMEN
Nelson (2002) proposed that ageism occurs as a result of the negative perceptions individuals have of older adults. This study examined whether information about an older person's exercise habits would influence such perceptions. Participants (N = 1,230) from 3 age categories (16-25, 26-55, and 56+ yr) read a description of a 65-year-old man or woman describing 1 of 7 exercise statuses. Participants rated their perceptions of 13 aspects of the target's personality. A 3-way (Target Exercise Status × Target Gender × Participant Age) MANOVA revealed significant main effects for target exercise status. Nonexercisers were perceived less positively than the control target and the exercising targets. The results suggest that there are self-presentational costs associated with being a nonexerciser at an older age, but few self-presentation benefits accrued to older adults who engage in regular exercise.
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Envejecimiento/psicología , Ejercicio Físico/fisiología , Actividad Motora , Prejuicio , Percepción Social , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Análisis de Varianza , Ejercicio Físico/psicología , Tolerancia al Ejercicio/fisiología , Femenino , Estado de Salud , Humanos , Masculino , Persona de Mediana Edad , Estadística como Asunto , Adulto JovenRESUMEN
We examined the influence of order effects on assessments of sporting ability. Club-standard ultimate frisbee players (n = 240) viewed footage of a target player performing a series of ultimate frisbee skills. Participants viewed either a declining (successful to unsuccessful) pattern of performance or an ascending (unsuccessful to successful) pattern. Ratings were made on three descriptors of ultimate frisbee ability. One group of participants made ratings at the end of the sequence of clips, one group updated their ratings after each clip in a step-by-step manner, and one group used an extended step-by-step processing strategy. Finally, a fourth group made end-of-sequence ratings, but a delay condition was used to control for the time taken to make step-by-step ratings. Analyses of covariance (order vs. judgement condition) were conducted on the ratings. Results revealed primacy effects for the ratings of the target player in the end-of-sequence and delay conditions, and in the first step-by-step condition, but no order effects in the second step-by-step condition. Findings indicate order effects can be reduced by using a more thorough step-by-step processing strategy.
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Rendimiento Atlético/psicología , Procesos Mentales , Adolescente , Adulto , Femenino , Humanos , Masculino , Modelos Psicológicos , Enmascaramiento Perceptual , Adulto JovenRESUMEN
This study examined whether information about an older person's exercise habits influences the impressions formed of them by others. British participants (N = 360) from three age categories (16-25 years old, 26-55 years old, and 56+ years old) were asked to read a description of a 65-year-old man or woman described as either an exerciser, a nonexerciser, or a person with no exercise status information. Participants rated the target on 13 personality and 10 physical appearance dimensions. MANOVAs revealed significant main effects for target exercise status and participant age. Exercisers received more favorable ratings than either the nonexercisers or the controls on the majority (15/23) of the personality and physical appearance dimensions (p < 0.05). Participants aged over 56 tended to rate targets more favorably than the other two age categories but only on the physical appearance ratings. The results suggest that there are self-presentational benefits associated with being an exerciser at an older age.