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)

We describe in six men, recurrent episodes recurring over months or years, of sudden, brief complete obstruction to respiration followed by dyspnoea with loud inspiratory stridor lasting two to five minutes. Attacks occurred during wakefulness and/or sleep. In one patient an episode was witnessed endoscopically: the initial obstruction was seen to be caused by complete laryngeal closure. The false vocal cords then opened, but the vocal cords remained adducted and caused inspiratory stridor. The similarity of the attacks described by the other patients suggests that they were all caused by laryngeal closure. Furthermore, they could simulate the episodes by voluntarily adducting their vocal cords. The symptoms were usually preceded by a sensation of throat irritation and in four cases symptoms of upper respiratory infection were present. Associated features present in some of the patients included post-nasal discharge, snoring, sleep apnoea and gastro-oesophageal reflux. None was hypocalcaemic. Although stimulation of laryngeal receptors is known to produce reflex laryngeal closure, cough is the usual response during wakefulness. Treatment aimed at reducing upper airway irritation and voluntary inhibition of coughing appeared successful in reducing the incidence and severity of the episodes. Recognition of the condition is important as it may be confused with other causes of acute dyspnoea and it appears to respond to specific management.
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PMID:Brief upper airway (laryngeal) dysfunction. 228 83

Patients with neuromuscular disorders involving respiratory muscles (upper airway muscles, respiratory accessory muscles, diaphragm, even abdominal muscles that stabilize the chest) have more significant problems with breathing during sleep, especially during REM sleep, than during wakefulness. There are means of appropriately treating sleep disordered breathing and improving the quality of life of these patients. Treatment helps to avoid daytime symptoms and additional autonomic nervous system dysfunction. The treatment involves support of breathing during sleep. It must be adjusted to the severity of the problem during sleep, which implies systematic investigation and treatment based on polygraphic recordings during sleep. Patients, even when stable, need to be monitored during sleep at least once a year and more often if symptomatic, ie, appearance of any daytime symptom or frequent upper respiratory infection or indication of daytime CO(2) retention.
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PMID:Sleep-disordered Breathing in Neuromuscular Disease. 1182 42

Infants and children are patients who are the most susceptible to benefit from a procedure in the ambulatory setting. However, some of these patients are at risk. They include infants, especially if premature, and children with sleep apnea syndrome or with current or recent upper respiratory infection. The present paper gives advices for an optimal anesthesic management of these young patients.
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PMID:[Pediatric anesthesia: little children, big problems]. 2156 Apr 29

The palatine and nasopharyngeal tonsils (adenoids) are lymphoepithelial tissues located in strategic anatomical areas of the oral pharynx and nasopharynx. These immunocompetent tissues represent the first line of defense against ingested or inhaled foreign proteins such as bacteria, viruses, or food antigens. Accompanying the advances being made in the field of medicine today, the role of the tonsils in immunocompetence is becoming extremely important. Upper respiratory tract infections such as acute otitis media, acute rhinosinusitis and acute pharyngo-tonsillitis are diseases that occur with extremely high frequency, and the antimicrobial agents used to treat these diseases account for a large proportion of health care costs. The increasingly refractory nature of upper respiratory tract infections caused by drug-resistant bacteria has become a major worldwide concern. The elucidation of the immune functions of the tonsils and mucosal membranes of the upper respiratory tract is considered to have important significance. The tonsils are also considered to play an important role as one of the causes of sleep apnea syndrome, and have been reported to be intimately involved in the manifestation of IgA nephropathy and palmoplantar pustulosis, a kind of skin disorder. Interest has continued to grow in this symposium with each session ever since it was first held in Kyoto, Japan in 1987. Since then, the symposium has been held every 3-4 years; in Pavia in 1991, in Sapporo in 1995, in Ghent in 1999, in Wakayama in 2003, and in Siena in 2006. Since the 5th symposium in Wakayama, the topics were extended to mucosal barriers of upper airways including the mucosal immune system, innate immunity, and mucosal vaccine. Recent fine technologies and information on molecular biological approaches for upper airways will continue to advance our understanding of epidemiology, etiology, pathogenesis, diagnosis and management of tonsil-related disorders and various upper respiratory tract infections such as otitis media and rhinosinusitis. Moreover, in the era of drug-resistant microbes, we should exert more effort to develop powerful and effective mucosal vaccines against pathogens in upper airways.
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PMID:Moving towards a new era in the research of tonsils and mucosal barriers. 2186 80

Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulation of the GAGs, dermatan sulfate, and heparan sulphate, The disease spectrum includes a disorder with severe involvement and CNS disease Hurler disease (HPS I H) a chronic disease without CNS disease Scheie disease (HPS I S5) and the intermediate Hurler/Scheie disease(HPS I HIS).The urine GAGs pattern. confirmed by Iduronidase enzyme assay is diagnostic. Over 200 mutations exist. Genotype / phenotype correlation is poor but two nonsense mutations results in Hurler disease.The skeletal disease dysostosis multiplex (DM) is seen in severe variants of MPS I. The hypoplastic odontoid putting these patients at high risk of cervical cord damage. MPS IH (Hurler Disease) affected infants develop a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent upper respiratory infection. They have "coarse", facial features, and an enlarged tongue. . Progressive upper airway disease leads to obstructive sleep apnoea. Corneal clouding and cognitive impairment appears, growth ceases. Joint stiffness and contractures limit mobility. Cardiac disease is universal. Death occurs before 10 years. SCHEIE patients are diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding . Prolonged survival with considerable disability without cognitive impairment is usual. MPS IH/S Hurler/Scheie. is diagnosed by 6.5 years, with variable skeletal and visceral manifestations without cognitive involvement. Joint stiffness, corneal clouding, , umbilical hernia, abnormal facies, hepatomegaly, joint contractures, and cervical myelopathy occur. Patients die in their 20s .Haematopoietic stem cell transplantation (HSCT) the standard treatment of MPS IH for 30 years is unpredictable .When performed before 2 years it can stabilize cognitive impairment. Hepatosplenomegaly, urine GAGs excretion, upper airways obstruction and cardiomyopathy improve . The coarse hair and facial features soften and corneas partly clear,but dysostosis multiplex and cervical instability are not improved. Enzyme replacement therapy (ERT) in patients with MPS IH is associated with improved GAG excretion, left ventricular hypertrophy,sleep studies and liver size. The standard treatment of MPS IHIS and MIPS IS is ERT a-L-Iduronidase, laronidase, a life-long therapy. GAG excretion is reduced, respiratory function and physical endurance improve. Joint mobility improves but not dural thickening, cardiac valve lesions or eye changes. MPS I mice have been successfully treated with IDUA-expressing mesenchymaf stem cells . Gene therapy may be developed for MPS I, via an ex vivo approach demonstrated to improve even skeletal outcomes in animal models.
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PMID:Mucopolysaccharidosis type I. 2534 91