Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of Prader-Willi syndrome who later developed hepatoblastoma is reported. Prader-Willi syndrome was suspected because of hypotonia, hypopigmentation, and undescended testes when he was a newborn infant. The diagnosis was confirmed by chromosome analysis, which showed 46XY del(15)(q11, q13). When he was 1 year 4 months old, a liver tumor and high serum AFP were found. At operation a large tumor arising from the caudate lobe was found and the tumor was totally resected. After completion of the hepatectomy, he developed circulatory collapse of unknown cause and died shortly after the operation. Histopathologic examination revealed that the tumor was composed of two components, well differentiated cells and poorly differentiated cells. The well differentiated part did not dominate the poorly differentiated part, so it was diagnosed as poorly differentiated hepatoblastoma. This is the first reported case of Prader-Willi syndrome with a pediatric malignant tumor.
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PMID:Prader-Willi syndrome with del(15)(q11,q13) associated with hepatoblastoma. 166 44

Hypotonia and ex vacuo hemorrhages are the most grave complications of vitreoretinal surgery; the known methods of their prevention are altogether inadequate. The authors have developed extra-scleral ballooning (ESB) methods that improve the efficacy of surgery and reduce the rate and severity of complications in subretinal fluid draining during surgery for detachment of the retina and in arresting intraocular hemorrhages during closed vitrectomy. ESB application helped elevate intraocular pressure in the patients with drastic hypotonia, permitting a reliable and easy-to-perform monitoring of intraocular pressure over the course of surgery. This was conducive to complete evacuation of subretinal fluid, thus preventing the development of hypotonia and its complications, as well as to a rapid arrest of intraocular hemorrhage due to rapid elevation of intraocular pressure up to the values essential for the bleeding vessel collapse. Surgical methods are described and their results analyzed in 65 cases. The developed ESB methods for the prevention of hypotonia and intraocular hemorrhages in vitreoretinal surgery are effective, low traumatic, and may be recommended as alternative ones.
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PMID:[Extra-scleral balloon catheterization. Report 3. New ways of its use--prevention of hypotonia and intraocular hemorrhages in vitreo- retinal surgery]. 175 63

A case of neonatal hemochromatosis in a 3-hour-old male is described. He presented with hypotonia, mild jaundice, and respiratory difficulty immediately after birth. He had no evidence of congenital infection, immune-related hemolysis or exogenous iron uptake. Postmortem examination revealed abnormal facial features. The organs were of normal weight for his age except a small liver and lungs, and a large spleen. The most prominent changes were in the liver and pancreas. The liver was coarsely nodular and fibrotic. The lobular architecture was totally distorted by innumerable multinucleated giant cells, loss or collapse of the hepatocytes, and diffuse fibrosis. A large amount of hemosiderin was seen in the liver, pancreatic acini and thyroid follicular cells. Scanty amount of hemosiderin was also found in the myocardial fibers and renal tubular cells. The pancreas showed hyperplasia and hypertrophy of the islets. The spleen showed severe congestion and a moderate extramedullary hemopoiesis but no deposits of hemosiderin. This patient had three siblings died in neonatal period, one of which had clinical features of neonatal hemochromatosis.
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PMID:Neonatal hemochromatosis--report of an autopsy case. 177 32

This study is the first attempt to characterize neurological and behavioural consequences of fluid-percussion concussive head injury in the cat. Both animals initially anaesthetized by N2O as well as unanaesthetized, chronically prepared animals were subjected to injury. Injury with a fluid-pressure wave of 1.9-2.5 atm (duration 21-24 ms) produced a brief generalized areflexia. Following this initial response, injury greater than 2.1 atm frequently produced a period associated with hypotonia of postural muscles and suppression of postural motor responses (flaccidity). A close association between flaccidity and other indices of coma such as absence of eye-opening responses was noted. These consequences of injury can occur without fatal apnoae, circulatory collapse or overt intraparenchymal haemorrhages. This result suggests that mechanical stress predominantly restricted to the brain stem in fluid percussion may be sufficient, at least in the cat, to produce coma associated with flaccidity which has been previously documented for acceleration concussion. There was no evidence that fluid percussion produced EEG depression similar to the effects of lesions in the mesencephalic reticular activating system (RAS). Thus, depression of general levels of brain activity including those within the RAS seems not be necessary for production of this form of reversible coma.
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PMID:Coma associated with flaccidity produced by fluid-percussion concussion in the cat. I: Is it due to depression of activity within the brainstem reticular formation? 316 67

Snoring usually is trivial and unimportant, but it can turn into a social or medical problem. Obesity, hypertension and heart disease are more frequent among snorers than among nonsnorers, and especially snorers with hypersomnia during the day are at risk. Hypersomnia in association with snoring usually signifies obstructive sleep apnea. Increased resistance in the upper airways, together with negative inspiratory pharyngeal pressure and muscular hypotonia during deep non-REM and REM sleep, lead to collapse of the pharynx, hypoxia and hypercapnia. Only after arousal from sleep does muscle tone return, pharyngeal obstruction reopen and airflow resume. Since this process can occur 300 or 400 times a night, repetitive alveolar hypoventilation leads to pulmonary-arterial hypertension and cor pulmonale, and the repetitive sympathetic activations can cause systemic hypertension or serious cardiac arrhythmias. The countless arousals deprive the sufferer of deep non-REM and REM sleep and their consequence is sleep fragmentation. The symptoms are excessive daytime sleepiness, intellectual deterioration and personality and behavioral changes. Oronasomaxillofacial, endocrine and neuromuscular anomalies and diseases predispose to sleep apnea, and alcohol or CNS-depressant drugs can favour its occurrence. Diagnosis is made by nighttime oxymetry, and if this is abnormal, by polysomnography. After polysomnography it is possible to distinguish between obstructive and nonobstructive sleep apnea, and the decisions for an adequate treatment can be made.
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PMID:[Dangerous snoring. Sleep-apnea syndrome]. 331 92

Congenital bronchomalacia is a disease typically associated with infants between 1 and 12 months of age; cases in children less than 1 month of age are rare. Bronchomalacia is commonly associated with tracheomalacia and rarely warrants operative intervention. Three cases of bronchomalacia are presented, including two unusual cases of bronchomalacia associated with neuromuscular disorder, one complicated by hypotonia. These patients required ventilatory support in the form of continuous positive airway pressure to prevent lobar collapse. Following tracheobronchial and neuromuscular maturation, these infants were able to weaned from respiratory assistance without further sequelae. Bronchomalacia is discussed, the literature reviewed, and the standard therapies presented. The results indicate a possible relationship between neuromuscular disorders and respiratory collapse.
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PMID:Bronchomalacia in the neonate. 390 58

Hunter's syndrome is one of a group of heritable metabolic disorders caused by decreased activity of one or more of the lysosomal enzymes responsible for mucopolysaccharide catabolism, resulting in excessive deposition of mucopolysaccharides in skeletal and soft tissues. Pulmonary conditions, such as airway obstruction, sleep apnea syndrome, atalectasis, recurrent pneumonia and difficult endotracheal intubation are known to be associated with these rare disorders and have been reported. We report the findings at laryngotracheobronchoscopy of a patient with Hunter's syndrome with airway symptoms and, supported by analysis of previously reported cases of airway problems associated with the syndrome, suggest that tracheobronchomalacia with classifiable major airway collapse (MAC) may be the pathological correlate for this clinical picture. The endoscopic technique and characteristic findings of tracheobronchomalacia/MAC are discussed, as well as the natural history and pathophysiology of this condition, which is characterized by weakness of the tracheal wall due to softening of the supporting cartilage and hypotonia of the myoelastic elements with reduction in the tracheal lumen.
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PMID:Tracheobronchomalacia in Hunter's syndrome. 850 49

We report a case of total collapse of the upper pharyngeal airway in a slightly premature baby, resulting in a noisy breathing disorder. Primary immaturity of the central nervous system contributing to pharyngeal muscle hypotonia has been implicated in association with the increase in nasal pressure. The infant experienced complete resolution of symptoms a few weeks after the placement of a nasopharyngeal tube. This case report demonstrates the difficulty in diagnosis and management. The developmental spectrum and exploration are reviewed.
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PMID:Primitive pharyngeal dyskinesia associated with upper airway collapse in an infant. 935 Apr 96

The structural properties of the upper airway determine its collapsibility during periods of muscle hypotonia. Both rapid-eye-movement (REM) sleep and increases in nasal pressure (PN) produce hypotonia, which persists even after nasal pressure is abruptly reduced. To determine the factors that influence the collapsibility of the hypotonic airway, the critical pressure (Pcrit) and nasal resistance upstream to the site of pharyngeal collapse (RN) were measured in the first three breaths after abrupt reductions in PN during non-REM and REM sleep. PN was reduced abruptly from 15.2+/-3.2 cm H2O (mean +/- SD) for three breaths in 19 apneic patients. Upper-airway pressure-flow relationships were analyzed to determine Pcrit for each breath in non-REM and REM sleep. We found that Pcrit rose (collapsibility increased, p < 0.001) and RN fell (p = 0.02) between the first and third breath after the decrease in PN, whereas no difference in Pcrit was detected between sleep stages. In six patients, genioglossus-muscle electromyograms (EMGs) were recorded. Peak phasic activity rose between the first and third breath (p = 0.03), but tonic and peak phasic EMG activity fell in REM as compared with non-REM sleep (p < 0.001). We conclude that the hypotonic upper airway becomes most collapsible by the third breath after an abrupt decrease in PN, regardless of sleep stage and despite an increase in genioglossus-muscle activity. Our findings suggest that predominantly mechanical rather than neuromuscular factors modulate the properties of the pharynx after abrupt reductions in nasal pressure.
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PMID:The hypotonic upper airway in obstructive sleep apnea: role of structures and neuromuscular activity. 956 18

About 40% of adults are habitual snorers. 2% of women and 4% of men between 30 and 60 years of age present additional sleep disordered breathing. There is a continuous spectrum from simple to disease-causing snoring ranging from merely disturbing noises to pharyngeal obstructions and breathing pauses. Repetitive episodes of upper airway obstructions lead to frequent arousals from sleep. Sleep fragmentation is responsible for non-refreshing sleep and subsequent excessive daytime sleepiness resulting in reduced performance at work, social problems and a higher risk for accidents. Furthermore there is a correlation between arousals and cardiovascular abnormalities. Anatomic narrowing of the upper airway or hypotonia of the orpharyngeal dilator muscles favour collapse of the oropharyngeal walls. Obstructive sleep apnea syndrome is characterized by repetitive oxyhemoglobin desaturations during sleep recorded by pulseoximetry. Polygraphy quantifies the average number of apneas and hypopneas which occur during one hour of sleep (apnea-hypopnea index = AHI). In upper airway resistance syndrome (= UARS), upper airway resistance is increased, but pharyngeal obstruction is not complete. Saturation doesn't decrease significantly, but arousals with consecutive sleep disruption still occur. Polysomnography is a comprehensive study including EEG-, EOG- and EMG-recordings. Sleep stages and events can be scored to evaluate sleep architecture, sleep efficiency and sleep fragmentation.
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PMID:[From simple snoring to sleep apnea syndrome--clinical spectrum]. 1095 48


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