congenital central hypoventilation

  • 文章类型: Journal Article
    我的研究工作的重点在于确定睡眠障碍的神经系统功能失调,并确定克服这些疾病的干预措施。睡眠期间异常的中枢和生理控制会产生严重的后果,包括呼吸中断,电机控制,血压,心情,和认知,在婴儿猝死综合症中起着重要作用,先天性中枢通气不足,癫痫突然意外死亡,在其他问题中。这些破坏可以追溯到大脑结构损伤,导致不适当的结果。故障系统的识别来自对完整单个神经元放电的评估,在多个系统中自由移动和状态变化的人类和动物准备,包括血清素能作用和运动控制部位。化学敏感的光学成像,血压和其他呼吸调节区域,特别是在开发过程中,有助于显示区域细胞作用在修改神经输出中的整合。通过结构和功能磁共振成像程序识别对照和患病人类中受损的神经部位,有助于识别损伤源,以及损害生理系统并导致失败的大脑部位之间相互作用的性质。制定了克服监管程序缺陷的干预措施,并纳入非侵入性神经调节手段,以招募古老的反射或提供外周感觉刺激,以协助呼吸驱动克服呼吸暂停,减少癫痫发作的频率,并在灌注失败可能导致死亡的情况下支持血压。
    The focus of my research efforts rests with determining dysfunctional neural systems underlying disorders of sleep, and identifying interventions to overcome those disorders. Aberrant central and physiological control during sleep exerts serious consequences, including disruptions in breathing, motor control, blood pressure, mood, and cognition, and plays a major role in sudden infant death syndrome, congenital central hypoventilation, and sudden unexpected death in epilepsy, among other concerns. The disruptions can be traced to brain structural injury, leading to inappropriate outcomes. Identification of failing systems arose from the assessment of single neuron discharge in intact, freely moving and state-changing human and animal preparations within multiple systems, including serotonergic action and motor control sites. Optical imaging of chemosensitive, blood pressure and other breathing regulatory areas, especially during development, were useful to show integration of regional cellular action in modifying neural output. Identification of damaged neural sites in control and afflicted humans through structural and functional magnetic resonance imaging procedures helped to identify the sources of injury, and the nature of interactions between brain sites that compromise physiological systems and lead to failure. Interventions to overcome flawed regulatory processes were developed, and incorporate noninvasive neuromodulatory means to recruit ancient reflexes or provide peripheral sensory stimulation to assist breathing drive to overcome apnea, reduce the frequency of seizures, and support blood pressure in conditions where a failure to perfuse can lead to death.
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  • 文章类型: Case Reports
    Congenital central hypoventilation syndrome (CCHS) is characterized by shallow breathing during sleep due to negligible ventilatory sensitivity to hypercarbia and hypoxemia. It is diagnosed using a genetic test for PHOX2B mutation, which is not easily available. Neurally adjusted ventilatory assist (NAVA) is a spontaneous ventilatory mode that was designed basically for better adapting the ventilator to the patient by using electrical activity of diaphragm (EAdi) signals. We report a case of a 6-month-old infant who presented with recurrent apneas, where differential decrease in EAdi discharges during sleep using NAVA served as an early clue to the diagnosis of CCHS. Definitive diagnosis was later confirmed by genetic testing.
    UNASSIGNED: Rauf A, Gupta D, Sachdev A, Gupta N, Gupta S, Kumar P, et al. Neurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome. IJCCM 2019;23(11):536-537.
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  • 文章类型: Journal Article
    Sleep-disordered breathing is accompanied by neural injury that affects a wide range of physiological systems which include processes for sensing chemoreception and airflow, driving respiratory musculature, timing circuitry for coordination of breathing patterning, and integration of blood pressure mechanisms with respiration. The damage also occurs in regions mediating emotion and mood, as well as areas regulating memory and cognitive functioning, and appears in structures that serve significant glycemic control processes. The injured structures include brain areas involved in hormone release and action of major neurotransmitters, including those playing a role in depression. The injury is reflected in a range of structural magnetic resonance procedures, and also appears as functional distortions of evoked activity in brain areas mediating vital autonomic and breathing functions. The damage is preferentially unilateral, and includes axonal projections; the asymmetry of the injury poses unique concerns for sympathetic discharge and potential consequences for arrhythmia. Sleep-disordered breathing should be viewed as a condition that includes central nervous system injury and impaired function; the processes underlying injury remain unclear.
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