Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Motility of sperm flagella as well as of cilia is mechanically based on the principle of 9 + 2-tubules. It functions essentially by coordinated action between microtubules and the adenosine-triphosphatase dynein and was already present at the beginning of the evolution of the eucaryotes. Experimentally induced mutations in algae have resulted in numerous variations of the flagellar 9 + 2-structure. A mutation of this kind is also found in man, as immotile cilia syndrome (ICS) where anomalies in spermatozoa and in cilia (e.g. of the respiratory tract) are observed. Clinical manifestations of the syndrome have long been known (chronic bronchitis, bronchiectasis, sinusitis and male sterility). In addition, half of the patients exhibit situs inversus viscerum, known as Kartagener's syndrome, a subgroup of ICS. Electron microscopy was used to investigate sperm flagella with reduced motility from 9 patients (one with ICS) with primary infertility. Cilia of the respiratory tract from 7 patients (several with ICS) with chronic bronchial problems were analyzed for motility (using video techniques) and ultrastructure. Reduced motility or immotility of spermatozoa and immotile or dyskinetic cilia were always accompanied by ultrastructural anomalies. In spermatozoa, lack of dynein arms, 9 + 0-configuration and extratubuli were most frequently observed. The fibrous sheath was always asymmetrical. Structural ciliary defects resulted in non-parallel arrangements, electron dense matrix substance, extratubuli and lack of radial spokes. In one case, ciliary microtubuli were found in microvilli. In two patients, cilia as well as spermatozoa were analyzed. In the first, immotile spermatozoa without dynein arms and structurally normal cilia were observed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Sperm flagella and cilia with pathologic motility and ultrastructure]. 650 61

Ankylosing spondylitis, a chronic multisystem inflammatory disorder, can present with articular and extra-articular features. It can affect the tracheobronchial tree and the lung parenchyma, and respiratory complications include chest wall restriction, apical fibrobullous disease with or without secondary pulmonary superinfection, spontaneous pneumothorax, and obstructive sleep apnea. Ankylosing spondylitis is a common cause of pulmonary apical fibrocystic disease; early involvement may be unilateral or asymmetrical, but most cases eventually consist of bilateral apical fibrobullous lesions, many of which are progressive with coalescence of the nodules, formation of cysts and cavities, fibrosis, and bronchiectasis. Mycobacterial or fungal superinfection of the upper lobe cysts and cavities occurs commonly. Aspergillus fumigatus is the most common pathogen isolated, followed by various species of mycobacteria. Prognosis of patients with fibrobullous apical lesions is mainly determined by the presence, extent, and severity of superinfection. Pulmonary function test results are nonspecific and generally parallel the severity of parenchymal involvement. A restrictive ventilatory impairment can develop in patients with ankylosing spondylitis because of either fusion of the costovertebral joints and ankylosis of the thoracic spine or anterior chest wall involvement. Chest radiographic findings may mirror the severity of clinical involvement. Pulmonary parenchymal disease is typically progressive, and cyst formation, cavitation, and fibrosis are seen in advanced cases. No treatment has been shown to alter the clinical course of apical fibrobullous disease. Although several antiinflammatory agents, such as infliximab, etanercept, and adalimumab, are being used to treat ankylosing spondylitis, their effects on pulmonary manifestations are unclear.
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PMID:Pulmonary manifestations of ankylosing spondylitis. 2069 46