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

Among 51 patients referred for investigation of possible organic solvent encephalopathy 20 (39%) had pathological sleep apnoea [apnoea index (AI) greater than 5], compared with 5 of 16 house painters exposed to solvents (31%) who were screened for the disorder, and 1 of 18 (6%) age-matched controls. Twelve of the patients with AI greater than 5 were retested after 2 or more weeks without exposure to solvents, and showed a significant drop in AI. Likewise, significantly lower AI was seen in patients who were no longer exposed to solvents, compared with recently exposed patients. The implications of these findings for diagnostic evaluation of solvent encephalopathy and sleep apnoea are discussed.
...
PMID:The clinical significance of sleep apnoea in workers exposed to organic solvents: implications for the diagnosis of organic solvent encephalopathy. 159 86

Fifteen patients referred for the evaluation of possible organic solvent encephalopathy were studied by clinical polysomnography. Seven had more than 30 apnoeas per night and an apnoea index of higher than 5, thus fulfilling the commonly used criteria of the sleep apnoea syndrome. Another group of eight workers exposed to trichlorethane, examined without prior knowledge of their individual symptoms, showed a significantly elevated number of sleep apnoeas compared with nine controls. The results indicate that organic solvent exposure can cause sleep apnoea.
...
PMID:Sleep apnoea and organic solvent exposure. 358 22

Patients with mitochondrial disease may present to the Intensive Care Unit (ICU) with a variety of neurological and general medical disorders. Eleven patients were admitted to a neurological ICU between 1970 and 1992 because of respiratory insufficiency, status epilepticus and/or metabolic encephalopathy associated with mitochondrial disease. Respiratory impairment occurred in eight patients and was associated with nocturnal hypoventilation due to respiratory muscle weakness, aspiration due to bulbar weakness and abnormalities of central control leading to a reduced CO2 drive, irregular respiratory patterns and sleep apnoea. Seven patients received continuous respiratory support during the acute illness; three were subsequently weaned to domiciliary ventilation, and four died. Five patients had stroke-like episodes, which in two were recurrent. Four patients developed tonic-clonic grand mal epilepsy associated with myoclonic fits (2 patients), absences (2), focal fits (1) and status epilepticus (2). Encephalopathy was associated with recurrent lactic acidosis (2 patients), cardiac failure (2), hyponatraemia (2), renal abnormalities (3) and complete heart block (1). Although rare, mitochondrial disease should be considered in any patient with unexplained respiratory failure, intractable epilepsy, lactic acidosis or recurrent stroke.
...
PMID:Management of mitochondrial disease on an intensive care unit. 776 70

A high prevalence of sleep apnoea was found in a group of men occupationally exposed to organic solvents. Workers with long term exposure to organic solvents often report symptoms such as fatigue, forgetfulness, and concentration difficulties. These symptoms are strikingly similar to those reported by patients with obstructive sleep apnoea syndrome (OSAS). This is a frequently diagnosed disorder characterised by disturbed sleep causing psychic or somatic complications and daytime sleepiness. A study was undertaken to evaluate whether people with long term occupational exposure to organic solvents have a higher prevalence of sleep apnoea than the general population. Patients exposed to solvents (66 men) were invited to participate in a screening for sleep apnoea. A static charge sensitive bed was used for the monitoring of respiration movements and pulse oximetry during one night. A classical sleep apnoea was diagnosed if periodic respiration movement exceeded 45% of estimated sleep time and the oxygen desaturation index exceeded 6. The prevalence of sleep apnoea among the men exposed to solvents was compared with the prevalence in the general population (1.4%). The prevalence among the participating exposed men was 19.7% which gave a conservative relative risk estimate of 14.1 (95% confidence interval (95% CI) 7.5-24.2). The results indicate that exposure to organic solvents causes sleep apnoea. An alternative possibility is that people with sleep apnoea are misdiagnosed as cases of solvent induced toxic encephalopathy. The interpretation has importance for the caring of the patient.
...
PMID:Occupational exposure to organic solvents as a cause of sleep apnoea. 845 96

In this report we describe the respiratory patterns of six patients with Leigh syndrome, including two individual cases with accompanying clinical phenotypes of Alpers disease and mitochondrial encephalopathy with ragged red fibers. In five cases where sleep apnea was monitored, each one showed isolated or post-sigh central apnea, hiccup, apneusis-like breathing and obstructive apnea in various combinations. The remaining patient with Alpers/Leigh overlap syndrome showed an apneusis-like pattern of dyspnea. The sleep structure was examined in three patients. Two patients with brainstem lesions showed a decrease in the deep sleep stages and an absence of REM sleep. Medullary lesions were found in four patients by magnetic resonance imaging or at autopsy and involved predominantly the dorsal respiratory group (DRG) of medullary neurons. The role of DRG lesions in the pathophysiology of respiratory symptoms in Leigh syndrome is discussed.
...
PMID:Characteristics of breathing abnormality in Leigh and its overlap syndromes. 1187 May 85

Permanent tracheotomy was the first surgical procedure proposed for the treatment of severe obstructive sleep apnoea syndrome and is still the only surgical option that ensures, even in very severe cases, complete elimination of apnoea and, in turn, clinical remission. Improved knowledge of the causes of obstructive sleep apnoea syndromes and the increasing therapeutic options (instrumental, medical and surgical) have resulted in cases requiring tracheotomy as the only indispensable therapeutic option becoming more rare. At present, the only indications are in very occasional conditions of life-threatening obstructive sleep apnoea syndromes and in patients on whom continuous positive airway pressure is not tolerated or is not effective (severe deoxygenation or hypercapnia, severe respiratory disorder index, severe obstructive sleep apnoea syndrome-related arrhythmias, severe excessive daytime sleepiness, heart diseases or ischaemic encephalopathy exacerbated by obstructive sleep apnoea syndromes, obstructive pneumopathy exacerbated by obstructive sleep apnoea syndromes, severe obstructive sleep apnoea syndromes with few chances of resolution with other surgical procedures or failure of the latter). Moreover, it is the only therapeutic solution in rare nocturnal laryngeal stridor due to multisystemic atrophy (in which obstructive sleep apnoea syndrome is due to nocturnal laryngospasm of neurologic origin). Therapeutic tracheotomy must be permanent (tracheostomy) and, therefore, preferably carried out with a specific technique (skin-lined tracheotomy), able to guarantee greater stability, less risk of granulation tissue, wider opening of the tracheostomy, sufficient reversibility. In our experience, very few patients (10 cases) withsleep disorder breathing have been submitted to skin-lined tracheotomy. Of these, the majority were submitted to surgery for severe apnoea due to nocturnal laryngospasm on account of multisystemic atrophy (n = 7), while only 3 cases of obstructive sleep apnoea syndromes were submitted to skin-lined tracheotomy, i.e., 0.7% of the 424 patients operated on for obstructive sleep apnoea syndrome and 1.7% of the 175 operated on for severe, or very severe, obstructive sleep apnoea syndromes (RDI > 40). Skin-lined tracheotomy was not followed by important complications and expected results were achieved with immediate disappearance of daytime symptoms and considerable improvement in nocturnal apnoea. Besides sleep-related disorders, numerous clinical situations with indications for a permanent tracheotomy may benefit from the skinlined technique, such as severe laryngeal or tracheal stenoses, laryngeal diplegias, miasthenia gravis, lateral amyotrophic sclerosis, intractable aspiration, severe emphysema.
...
PMID:Role of skin-lined tracheotomy in obstructive sleep apnoea syndrome: personal experience. 1546 94

Arnold-Chiari malformation is an occipitocervical malformation where the cerebellar amygdales descend below the occipital foramen. Acute respiratory failure is an exceptional inaugural sign. We report two cases disclosed by alveolar hypoventilation associated with type I Arnold-Chiari malformation. The two patients age 51 and 52 years had an uneventful past history and presented with hypercapnic encephalopathy with acute respiratory failure requiring ventilatory assistance. Respiratory function tests, helicoidal thoracic computed tomographic angiography, electromyogram, cardiac echography, and thyroid and immunological tests were normal. Blood gases and polysomnography were in favor of central hypoventilation without sleep apnea. Magnetic resonance imaging demonstrated type I Arnold-Chiari malformation. The course was complicated by recurrent respiratory failure in both patients. Surgical decompression performed for the first patient provided no improvement. This patient died two months after surgery subsequent to aspiration pneumonia. The second patient was treated with continuous positive pressure noninvasive ventilatory assistance and had a good outcome at 25 months. These two cases illustrate the absence of any neurological sign, acute respiratory failure being the only sign of Arnold-Chiari malformation.
...
PMID:[Acute respiratory failure as the sol inaugural sign of Arnold-Chiari malformation. Two cases]. 1816 35

Sleep disorders are common in dialysis patients. Insomnia is reported in almost 70% of the dialysed. Old age, presence of common sleep disorders, such as sleep apnea syndrome (SAS) and restless legs syndrome (RLS), comorbid clinical conditions, metabolic parameters and characteristics of dialysis, represent the main risk factors for insomnia. RLS is independently associated with uremia, affecting almost 30% of Caucasians dialysed. Pathophysiology of uremic RLS is still unclear. Although the exact pathogenetic mechanism remains unknown, the efficacy of kidney transplantation on RLS symptoms supports the involvement of renal function in this disturbance. SAS affects 30-80% of dialysis patients. The use of neurophysiological measures is necessary to diagnose SAS. This approach is not applicable in all dialysis patients; consequently, validated questionnaires might be useful to screen patients with a high risk of apnea. Risk of obstructive and central respiratory events are increased by renal failure and dialysis therapy. Excessive daytime sleepiness (EDS) is often reported by the dialysed population. Direct effects of uremic encephalopathy and of somnogenic cytokines have been suggested as the cause of EDS, in addition to the sleep disturbances that increase daytime sleepiness by impairing nocturnal sleep efficiency. Although less frequent, the presence of other sleep disturbances (such as nightmares and narcolepsy) should be carefully evaluated in the uremic population. Several sleep disturbances may potentially be treated but, if left untreated, may impair health status and increase the risk of mortality. However, literature and personal data suggest that undertreatment is common, calling to higher awareness of sleep disturbances among nephrologists.
...
PMID:Sleep disturbances in dialysis patients. 1844 35

A solvent can be defined as "a liquid that has the ability to dissolve, suspend or extract other materials, without chemical change to the material or solvent". Numerous chemical or technical processes rely on these specific properties of organic solvents in industry. Occupational exposure to solvents is not rare and some activities may cause substantial exposure to these substances in the workforce. Short-term or acute exposures cause a prenarcotic syndrome, and long lasting exposure conditions have been associated with various neurological and neuropsychiatric disorders, e.g., anosmia, hearing loss, colour vision dysfunctions, peripheral polyneuropathy and depression, but most significantly with the gradual development of an irreversible toxic encephalopathy. For the last 3 decades reports and epidemiological studies have been published reporting sleep disturbances among other complaints, related to long-term exposure to these compounds. In addition, the question has been posed if solvents can be the cause of a sleep apnoea syndrome in exposed workers, or on the contrary, if these workers are misdiagnosed and 'common' sleep apnoea syndromes are the cause of their chronic symptoms of fatigue and memory and attentional disturbances.
...
PMID:Sleep disturbances and occupational exposure to solvents. 1920 Dec 27

This review considers the 250+ papers concerning the association of the angiotensin converting enzyme (ACE) gene insertion/deletion polymorphism (rs1799752) and various disease conditions published in 2009. The deletion allele occurs in approximately 55% of the population and is associated with increased activity of the ACE enzyme. It might be predicted that the D allele, therefore, might be associated with pathologies involving increased activity of the renin-angiotensin system. The D allele was seen to be associated with an increased risk of hypertension, pre-eclampsia, heart failure, cerebral infarct, diabetic nephropathy, encephalopathy, asthma, severe hypoglycaemia in diabetes, gastric cancer (in Caucasians) and poor prognosis following kidney transplant. On the positive side, the D allele appears to offer protection against schizophrenia and chronic periodontitis and confers greater up-per-body strength in old age. The I allele, meanwhile, offers improved endurance/athletic performance and aerobic capacity as determined by lung function tests, although it does increase the risk of oral squamous cell carcinoma and obstructive sleep apnoea in hypertensives.
...
PMID:Implications of the angiotensin converting enzyme gene insertion/deletion polymorphism in health and disease: a snapshot review. 2153 87


1 2 Next >>