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Background/Objective: Wolfram syndrome (WS) is a rare genetic disorder, in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, which has no specific treatment available. Here, we report 2 brothers treated with an insulin pump to manage the alterations of the glycemic levels due to the DM. Case Report: We present the case of 2 siblings diagnosed with Wolfram syndrome 1, they presented with typical endocrinological and neurodegenerative early manifestations, one brother was treated with a sensor-augmented insulin infusion system, and the other with an insulin pump. Both reached a better metabolic state and had improved quality of life. Discussion: The management of WS is still a challenge; however, the use of a sensor-augmented insulin infusion system and the information that it provides may offer better care to patients who require frequent monitoring and adjustments in their treatment. It has been reported that the neurodegenerative progression of WS is also associated with high glucose peaks; therefore, it is necessary to control it, even when it is hard due to the difficult-to-manage DM. There is only 1 previous case report of WS with insulin pump that describes the benefits of continuous subcutaneous insulin infusion and tight metabolic control during pregnancy. Conclusion: The use of insulin pumps may be an effective treatment for DM in WS patients, mainly in terms of improving the prognosis of difficult-to-manage DM.
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Introducción: La escala de coma de Glasgow (ECG) es una escala mundialmente reconocida para la clasificación de pacientes con trauma craneoencefálico de acuerdo a su compromiso neurológico. Esta escala evalúa la apertura ocular, la respuesta verbal y la respuesta motora. La neuroanatomía funcional representa un compromiso secuencial para el descenso en el puntaje de cada uno de estos ítems. El objetivo de esta revisión es describir la anatomía del sistema reticular activador ascendente (SRAA), la anatomía funcional del lenguaje, la anatomía del tallo cerebral y de las vías motoras que representan cada ítem evaluado por la ECG. Materiales y métodos: Se hizo una revisión narrativa bibliográfica de las principales vías para cada ítem de la ECG. Resultados: Las principales vías en relación con la apertura ocular se concentran en las vías del SRAA, las vías de la respuesta verbal incluyen las vías del lenguaje y las vías que provienen del putamen y del cerebelo que regulan la emisión del lenguaje, mientras que las vías que regulan la respuesta motora principalmente se relacionan con la vía piramidal, el sistema rubro-espinal y vestíbulo-espinal. Conclusiones: El descenso del puntaje en los tres ítems que evalúa la ECG se relacionan con vías específicas que predominan en los ganglios basales y en el tallo cerebral.
Introduction: The Glasgow Coma Scale (GCS) is a globally recognized scale for the classification of patients with traumatic brain injury according to their neurological impairment. This scale evaluates the ocular opening, the verbal response and the motor response. Functional neuroanatomy represents a sequential decrease in the score of each of these items. The objective of this review is to describe the anatomy of the ascending reticular activating system (ARAS), the functional anatomy of the language, and the anatomy of the brainstem and the motor pathways that represent each item evaluated by the GCS. Materials and methods: A narrative literature review of the main routes for each item of the scale was performed. Results: The main pathways in relation to the ocular opening are concentrated in the ARAS, the verbal response pathways include the language pathways and the connections that come from the putamen and the cerebellum that regulate the production of the language, while the pathways that regulate the motor response mainly relate to the pyramidal tract, the rubro-spinal and vestibulo-spinal systems. Conclusions: The decline of the score in the three items that evaluates the GCS is related to specific pathways that predominate in the basal ganglia and in the brainstem.