Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A series of 235 consecutive patients refferred to the Stanford University Sleep Disorders Clinic with the complaint of excessive daytime sleepiness (EDS) were investigated extensively. A satisfactory final diagnosis involving a consistent syndrome or pathogenic process was made in all but 7 patients. In the course of this work a variety of tests, including prolonged polygraphic monitoring of multiple variables and CSF measurements before and after probenecid ingestion, were utilized. Different syndromes were confirmed (harmonious hypersomnia, subwakefulness syndrome); the definitions of others were clarified and extended (narcolepsy, drug dependency, periodic hypersomnia associated with menstruation, upper airway sleep apnea in children). Two new entities were tentatively identified (narcolepsy with sleep apnea, the neutral state syndrome). Narcolepsy and upper airway sleep apnea accounted for the majority of the cases (199). A strategic schema utilizing specific categories and frequency of occurrence in the case series is presented to improve the diagnosis of the complaint of excessive daytime sleepiness by the practicing physician. This case series was analysed in order to develop tentatively a meaningful nosology.
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PMID:235 cases of excessive daytime sleepiness. Diagnosis and tentative classification. 18 92

The CSF pressure was measured continuously at the lumbar level during nocturnal sleep in 3 patients with sleep apnea hypersomnia syndrome. Nocturnal sleep was very unstable with frequent episodes of obstructive sleep apnea. When the patients were awake and relaxed in the supine position, their CSF pressure was stable and within the normal range. Episodic marked elevations of CSF pressure occurred frequently during sleep, and each elevation was preceded and accompanied by an episode of sleep apnea or hypopnea. Significant correlations were found between the duration of apneic episodes and increase of CSF pressure, and between decrease of SaO2 or TcPO2 and increase of CSF pressure. The duration of sleep apnea was longer, increase of CSF pressure was greater, and decreases of SaO2 and TcPO2 were more marked during REM sleep than during NREM sleep. It is suggested that the frequent marked episodic elevations of CSF pressure are caused by an increase in the intracranial vascular volume occurring mainly in response to transient hypercapnia and hypoxia, which are induced by pulmonary hypoventilation during the episodes of sleep apnea.
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PMID:Marked episodic elevation of cerebrospinal fluid pressure during nocturnal sleep in patients with sleep apnea hypersomnia syndrome. 257 29

Vasoactive intestinal polypeptide (VIP) is a neurotransmitter of the non-adrenergic and non-cholinergic system (NANC). It has been detected in many organs, including the airways, central and peripheral nervous system, the blood, and CSF. As a result of neuronal overflow, vagal stimulation leads to an elevation of VIP levels in the plasma. VIP leads to the activation of adenyl-cyclase, and thus to elevated cAMP in cells bearing VIP receptors. In 25 patients (24 males, 1 female) with a mean age of 50.3 +/- 9.9 years, and a Broca Index of 134.5 +/- 27.0%, plasma VIP was measured in the morning under conditions of fasting with the aid of an RIA assay (Incstar). Eleven patients (mean age: 49.4 +/- 10.1 years, Broca: 130 +/- 27.0%) had fewer than 100 episodes of apnea during nocturnal sleep (apnea/hypoapnea index 4.4 +/- 4.8). At 6.3 +/- 1.6 pcmoll-1, plasma VIP was markedly lower than that measured in 14 patients (mean age: 51.0 +/- 10.0 years, Broca: 138 +/- 28%) with the sleep apnea syndrome (apnea/hypopnea index 58.5 +/- 24.7 (means = 11.0 +/- 3.0 pcmoll-1, p less than 0.001). A significant correlation was found between the apnea episode occurring every night, and the VIP values (r = 0.64; y = -133 + 40 x VIP) measured in the plasma. The VIP measured in the plasma would appear to be a highly sensitive and highly specific indicator of the appearance of episodes of apnea during nocturnal sleep.
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PMID:[The significance of vasoactive intestinal polypeptide (VIP) in diagnosis of sleep apnea syndrome]. 260 48

The effects of intravenous injections of the opiate antagonist naloxone (0.005-0.4 mg/kg body weight) on respiratory pattern, apnoea duration and frequency were investigated in six infants with severe sleep apnoea syndrome. Since several authors found elevated plasma- and CSF-levels of endogenous opioids (endorphines) in infants with sleep apnoea syndrome, we wanted to determine whether the impairment of the control mechanisms of respiration during sleep is due to an effect of endogenous opioids. Independent of the dose, naloxone did not exert any effect on respiratory pattern and occurrence of periodic apnoea. We were unable to prove that endorphines play a major role in pathogenesis of sleep apnoea syndrome in infancy and possibly in sudden infant death syndrome (SIDS). We speculate that elevated levels of endorphines reported by some investigators rather seem to be a consequence of hypoxic stress than a cause for sleep apnoeas.
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PMID:Effects of naloxone on apnoea duration during sleep in infants at risk for SIDS. 379 80

Acute autonomic and sensory neuropathy (AASN) is a rare neuropathy characterized by acute autonomic dysfunction and objective sensory disturbances. A 26-year-old pregnant woman with severe autonomic and sensory dysfunction is reported. This patient suddenly developed marked nausea and vomitting in about 2 days after having a sore throat. She then developed signs of autonomic dysfunction including dilated non-reactive pupils, dryness of the eyes and oral mucous membranes, generalized anhidrosis, paralytic ileus, orthostatic hypotension, and continuous tachycardia. She also had severe generalized sensory impairments of all modalities, and all deep tendon reflexes were absent. Sensation was almost totally lost for all modalities below the neck. There was marked pseudoathetosis and sensory ataxia in all extremities. Motor examination was normal. She had inability to urinate. At this time she was 38 weeks pregnant, and when she showed signs of fetal distress, a Caesarean section was performed. Albumino-cytological dissociation was seen in the CSF. Serum noradrenaline was reduced, no sensory nerve action potentials could be elicited, and reduced coefficient of variation of the R-R interval on electrocardiography was observed. Plasma exchange was performed every other day for 3 days for about 3 weeks after the onset of the illness, but no favorable effects. Seven months after the onset, her autonomic dysfunction slightly improved, but there was no recovery from the sensory disturbances. Many symptoms and signs that characterize AASN occurred in this patient, and each was severe. The patient developed SIADH, sleep apnea, personality change, and amenorrhea in the course of the disease. We suggest that AASN patients might have both peripheral and central nervous system manifestations including seizures and personality changes.
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PMID:[A severe case of acute autonomic and sensory neuropathy]. 986 13

Ischemic or hemorrhagic cerebrovascular disease (CVD) produces injury of brain regions important for executive function, behavior, and memory leading to decline in cognitive functions and vascular dementia (VaD). Cardiovascular disease may cause VaD from hypoperfusion of susceptible brain areas. CVD may worsen degenerative dementias such as Alzheimer disease (AD). Currently, the global diagnostic category for cognitive impairment of vascular origin is vascular cognitive disorder (VCD). VCD ranges from vascular cognitive impairment (VCI) to VaD. The term VCI is limited to cases of cognitive impairment of vascular etiology, without dementia; VCI is equivalent to vascular mild cognitive impairment (MCI). Risk factors for VaD include age, hypertension, diabetes, smoking, cardiovascular disease (coronary heart disease, congestive heart failure, peripheral vascular disease), atrial fibrillation, left ventricular hypertrophy, hyperhomocysteinemia, orthostatic hypotension, cardiac arrhythmias, hyperfibrinogenemia, sleep apnea, infection, and high C-reactive protein. Research on biomarkers revealed increased CSF-NFL levels in VaD, whereas CSF-tau was normal. CSF-TNF-alpha, VEGF, and TGF-beta were increased in both AD and VaD. VaD shows low CSF acetylcholinesterase levels. This condition responds to acetylcholinesterase inhibitors, confirming the central role of cholinergic deficit in its pathogenesis. Evidence strongly suggests that control of vascular risk factors, in particular hypertension, could prevent VaD.
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PMID:Vascular dementia. Advances in nosology, diagnosis, treatment and prevention. 1587 77

The Chiari type 1 malformation is common. Unlike the Chiari type 2 and 3 malformations, it may remain latent for a long time, becoming symptomatic only in adulthood. The introduction of MRI has resulted in an increased number of diagnoses of this malformation in pediatric patients. It appears to be related to underdevelopment of the posterior cranial fossa. It must be differentiated from acquired tonsillar herniation, particularly when herniation results from intracranial hypotension; these cases are sometimes reported as acquired Chiari I malformation with spontaneous resolution. Tonsillar ectopia may cause symptoms by its direct effect on any or all of the medulla and the cerebellar and upper spinal cord. The most suggestive of the oculomotor disturbances is oscillopsia with downbeat nystagmus. Dysphonia and dysphagia are common. Potentially serious autonomic disturbances are also frequent: sleep apnea, respiratory failure, syncope and even sudden death. Another risk is syrinx formation, resulting from obstruction of CSF circulation in the cisterna magna. Syringomyelia is detected in 32 to 74% of patients with Chiari I malformation. Treatment is surgical. Posterior fossa decompression is achieved by suboccipital craniectomy combined with laminectomy of the upper cervical segments. Surgical intervention is indicated when the malformation is symptomatic and there is no doubt that it is the cause of the symptoms. When a Chiari I malformation is identified fortuitously on MRI, long-term monitoring is essential. The risk of developing symptoms increases over time. Patients should be advised not to participate in contact sports.
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PMID:[Chiari type 1 malformation and magnetic resonance imaging]. 1632 7

During 2008, ENT-UK received a number of professional enquiries from colleagues about the management of children with upper airway obstruction and uncomplicated obstructive sleep apnoea (OSA). These children with sleep-related breathing disorders (SRBDs) are usually referred to paediatricians and ENT surgeons. In some district general hospitals, (DGHs) where paediatric intensive care (PICU) facilities to ventilate children were not available, paediatrician and anaesthetist colleagues were expressing concern about children with a clinical diagnosis of OSA having routine tonsillectomy, with or without adenoidectomy. As BAPO President, I was asked by the ENT-UK President, Professor Richard Ramsden, to investigate the issues and rapidly develop a working consensus statement to support safe but local treatment of these children. The Royal Colleges of Anaesthetists and Paediatrics and Child Health and the Association of Paediatric Anaesthetists nominated expert members from both secondary and tertiary care to contribute and develop a consensus statement based on the limited evidence base available. Our terms of reference were to produce a statement that was brief, with a limited number of references, to inform decision-making at the present time. With patient safety as the first priority, the working party wished to support practice that facilitated referral to a tertiary centre of those children who could be expected, on clinical assessment alone, potentially to require PICU facilities. In contrast, the majority of children who could be safely managed in a secondary care setting should be managed closer to home in a DGH. BAPO, ENT-UK, APA, RCS-CSF and RCoA have endorsed the consensus statement; the RCPCH has no mechanism for endorsing consensus statements, but the RCPCH Clinical Effectiveness Committee reviewed the statement, concluding it was a 'concise, accurate and helpful document'. The consensus statement is an interim working tool, based on level-five evidence. It is intended as the starting point to catalyze further development towards a fully structured, evidence-based guideline; to this end, feedback and comment are welcomed. This and the constructive feedback from APA and RCPCH will be incorporated into a future guideline proposal.
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PMID:Tonsillectomy and adenoidectomy in children with sleep-related breathing disorders: consensus statement of a UK multidisciplinary working party. 1962 57

We recently reported a novel neurological syndrome characterized by a unique NREM and REM parasomnia with sleep apnea and stridor, accompanied by bulbar dysfunction and specific association with antibodies against the neuronal cell-adhesion protein IgLON5. All patients had the HLA-DRB1*1001 and HLA-DQB1*0501 alleles. Neuropathological findings in two patients revealed a novel tauopathy restricted to neurons and predominantly involving the hypothalamus and tegmentum of the brainstem. The aim of the current study is to describe the neuropathological features of the anti-IgLON5 syndrome and to provide diagnostic levels of certainty based on the presence of associated clinical and immunological data. The brains of six patients were examined and the features required for the neuropathological diagnosis were established by consensus. Additional clinical and immunological criteria were used to define "definite", "probable" and "possible" diagnostic categories. The brains of all patients showed remarkably similar features consistent with a neurodegenerative disease with neuronal loss and gliosis and absence of inflammatory infiltrates. The most relevant finding was the neuronal accumulation of hyperphosphorylated tau composed of both three-repeat (3R) and four-repeat (4R) tau isoforms, preferentially involving the hypothalamus, and more severely the tegmental nuclei of the brainstem with a cranio-caudal gradient of severity until the upper cervical cord. A "definite" diagnosis of anti-IgLON5-related tauopathy is established when these neuropathological features are present along with the detection of serum or CSF IgLON5 antibodies. When the antibody status is unknown, a "probable" diagnosis requires neuropathological findings along with a compatible clinical history or confirmation of possession of HLA-DRB1*1001 and HLA-DQB1*0501 alleles. A "possible" diagnosis should be considered in cases with compatible neuropathology but without information about a relevant clinical presentation and immunological status. These criteria should help to identify undiagnosed cases among archival tissue, and will assist future clinicopathological studies of this novel disorder.
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PMID:Neuropathological criteria of anti-IgLON5-related tauopathy. 2735 64

Earlier observers have speculated on the causal relationships between abnormal CSF circulation and a variety of neurological dysfunctions. Such speculations have been at least partially validated by recent evidence and inquiries contravening the traditional static viewpoint of CSF circulation. More contemporary inquiries establish a number of factors which influence both CSF production and absorption (sleep disturbance, neck position, cerebral metabolism, brain atrophy, medications, etc.). Thus, transient periods of abnormality are possibly mingled with periods of normality. Such episodic alterations suggest that the physiological arrangements which underpin CSF circulation may be in some ways likened to blood pressure alterations, in that long-standing CSF abnormalities may be both unappreciated and gradual, though virulent enough to cause substantial neurological injury. We suggest that cervical stenosis (blocking an important CSF decompressive pathway into the vertebral canal) is among the largely unappreciated causes of abnormal CSF circulation and may play a role in cephalad neuronal dysfunction. Such a blockage is correlated with age and easily assessed by cine MRI study. Indeed, episodic disturbances can diminish CSF cerebral flow circulation increasing deposition in cerebral parenchyma of contrary metabolic products (e.g. beta Amyloid), possibly having a causal influence on senile dementia. Additionally, cervical stenosis, by increasing posterior fossa cerebral pressure, could play a causal role in a number of afflictions, among them sleep apnea, concomitant respiratory and circulatory dysfunction, hypertension, chronic occipital headaches, tinnitus, etc. We further suggest that among those patients with substantial cervical stenosis (extensive enough to block CSF circulation in the cervical area as identified by cine MRI) appropriate comparative clinical studies could be undertaken to demarcate associations with presenile dementia, sleep disturbance and posterior fossa dysfunction. Additionally, we suggest that an intracranial monitoring implant be perfected to chronically monitor both intracranial pressure and CSF flow - a monitoring device comparable to the rather less invasive sphygmometric evaluation of blood pressure. If such speculations prove correct, different therapeutic regimens which might improve outcome could be imagined. Among them better sleep hygiene (to by position maximize CSF flow) and possibly more aggressive operative decompressive intervention to diminish cervical obstruction.
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PMID:The possible impact of cervical stenosis on cephalad neuronal dysfunction. 3003 1


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