RESUMEN
We report a rare presentation of an anteromedial thalamic infarct in a 50-year-old woman with acute onset left eye ptosis, vertical gaze paresis and confusion. MRI identified an acute left anteromedial thalamic infarct with a severe left P1 stenosis. Thalamic infarcts are associated with marked neurobehavioural disturbances with dominant thalamic lesions causing language deficits, verbal perseveration, memory disturbances, abulia and disorientation. Ocular movement deficits can also be present and typically accompany paramedian lesions. Rarely, patients can develop an ipsilateral ptosis. We discuss these symptoms and review the literature.
Asunto(s)
Infarto Cerebral/diagnóstico por imagen , Tálamo/irrigación sanguínea , Aspirina/uso terapéutico , Blefaroptosis/etiología , Infarto Cerebral/complicaciones , Confusión/etiología , Diplopía/etiología , Femenino , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Imagen por Resonancia Magnética , Persona de Mediana Edad , Trastornos de la Motilidad Ocular/etiología , Tálamo/diagnóstico por imagen , Tálamo/fisiopatologíaRESUMEN
We report a rare presentation of an anterior inferior cerebellar artery (AICA) infarct in a 74-year-old woman with acute-onset nausea, vomiting, vertigo and gait instability long before the full onset of symptoms and a negative MRI on admission. Over the next several days the patient developed left facial weakness, numbness, hypoacusis, and limb and gait ataxia, and was found to have acute infarcts of the left pons and cerebellar peduncle consistent with an AICA syndrome. We discuss this rare stepwise presentation in AICA syndrome and possible underlying pathophysiology. Such patients at risk for cerebrovascular disease should undergo a careful history, exam and follow-up, even with negative MRI findings, as their symptoms may precede a serious vascular event.
Asunto(s)
Ataxia de la Marcha/etiología , Infarto de la Arteria Cerebral Anterior/patología , Náusea/etiología , Vómitos/etiología , Anciano , Pedúnculo Cerebral/patología , Femenino , Humanos , Infarto de la Arteria Cerebral Anterior/complicaciones , Puente/patología , SíndromeRESUMEN
Nucleotide excision repair disorders display a wide range of clinical syndromes and presentations, all associated at the molecular level by dysfunction of genes participating in the nucleotide excision repair pathway. Genotype-phenotype relationships are remarkably complex and not well understood. This article outlines neurodegenerative symptoms seen in nucleotide excision repair disorders and explores the role that nucleotide excision repair dysfunction can play in the pathogenesis of chronic neurodegenerative diseases.
Asunto(s)
Reparación del ADN , Enfermedades Neurodegenerativas/genética , Enfermedades Neurodegenerativas/metabolismo , Enfermedades Raras/genética , Enfermedades Raras/metabolismo , Niño , Epidermólisis Ampollosa Simple/genética , Epidermólisis Ampollosa Simple/metabolismo , Humanos , Síndromes de Tricotiodistrofia/genética , Síndromes de Tricotiodistrofia/metabolismo , Xerodermia Pigmentosa/genética , Xerodermia Pigmentosa/metabolismoRESUMEN
PURPOSE: The medical student-run Einstein Community Health Outreach Clinic provides free healthcare to the uninsured adult population of New York, the United States. During the summer, prehealth student volunteers are recruited to assist with clinic operations. METHODS: We designed a survey study to identify the baseline characteristics of the volunteers between June and August of 2013 and 2014 in order to evaluate the influence of working in a medical student-run free clinic on their education, impressions, and career goals. RESULTS: A total of 38 volunteers (response rate, 83%) participated in the study. The volunteers were demographically diverse and interested in primary care specialties and community service. CONCLUSION: After the Einstein Community Health Outreach program, the volunteers showed an improved understanding of the healthcare process and issues relevant to uninsured patients. They also developed favorable attitudes towards primary care medicine and an increased level of interest in pursuing careers in primary care.
RESUMEN
Clinical research traditionally relies on measures of statistical significance to assess the strength of evidence while less attention is paid to the practical import of the results. The objective of this study was to provide a critical overview of the current approaches to measuring clinical significance in dementia research and to provide suggestions for future research. A systematic search was conducted of Medline and Embase for original, English-language, peer-reviewed articles published before July 2012. A total of 18 articles met the inclusion criteria, of which 13 used multiple approaches to measure clinical significance. In all, 5 articles used expert opinion as anchors; 4 also used distribution-based approaches. In all, 8 articles used Goal Attainment Scaling; 7 of these also relied on clinician-based impressions of change. Another 3 articles used only clinical global impressions of change, 1 article used changes in symptomatology, and another used the value from literature.