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)

Masticatory and tongue muscle activity was examined polysomnographically in 14 patients with sleep apnea syndrome and six snorers. The all-night polysomnographic recordings included electromyograms (EMG) of the genioglossal, the masseter and the inferior head of the lateral pterygoid muscles, nasal airflow and thoracoabdominal respiratory effort. The apneas were defined and classified into three types (obstructive, central and mixed). EMG amplitudes of each muscle were measured before, during and after the obstructive and central apneas. In the apnea patients the three muscles showed significantly lower EMG amplitudes during the obstructive apnea than before the apnea, and then significantly higher amplitudes after the apnea. These findings indicate that the hypotonia of the muscles during sleep can result in obstructive apnea. There was no significant difference in the pattern of muscle activity during obstructive apnea between the apnea patients and the snorers. On the other hand, a decrease in the mean EMG amplitude during the central apnea was not observed. It is suggested that central apnea occurs independently of masticatory and tongue muscle activity.
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PMID:A polysomnographic study on masticatory and tongue muscle activity during obstructive and central sleep apnea. 978 63

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

The sleep apnoea/hypopnoea syndrome (SAHS) is characterized by repeated upper airway narrowing or collapse during sleep. The obstruction is caused by the soft palate and/or base of tongue collapsing against the pharyngeal walls because of decreased muscle tone. These episodes are accompanied by hypoxaemia, surges in blood pressure, brief arousal from sleep and pronounced snoring. Individuals with occult disease are at heightened risk of motorway accidents because of excessive sleepiness, sustained hypertension, myocardial infarction, and stroke. The signs and symptoms of SAHS may be recognisable in the dental practice. Common findings in the medical history include daytime sleepiness, snoring, hypertension, and type 2 diabetes mellitus. Common clinical findings include male gender, obesity, increased neck circumference, excessive fat deposition in the palate, tongue (macroglossia) and pharynx, a long soft palate, a small recessive mandible and maxilla, and calcified carotid artery atheromas on panoramic and lateral cephalometric radiographs. Dentists who recognise these signs and symptoms have an opportunity to diagnose patients with occult SAHS. After confirmation of the diagnosis by a physician, dentists can participate in the management of the disorder by fabricating mandibular advancement appliances that enlarge the retroglossal space by anterior displacement of the tongue and performing corrective upper airway surgery that prevents recurrent airway obstruction.
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PMID:Dentistry's role in the diagnosis and co-management of patients with sleep apnoea/hypopnoea syndrome. 1097 58

Experimental and clinical evidences indicate that endocrine mechanisms, particularly involving the pineal gland, exert a role in the development of postural deficits leading to the occurrence of idiopatic scoliosis (IS). In particular, experiments performed in bipedal animals have shown that removal of the pineal gland, which secretes melatonin (M), induced a scoliosis, and that in such preparations, administration of this hormone prevented the development of this deformity (cf. 131). It appears also that adolescents with IS showed a reduced level of serum M with respect to age-related control subjects. The possible mechanisms involved in the M regulation of the tonic contraction of the axial musculature have been discussed. It is known that the pineal gland is implicated in the control of circadian rhythms, including the sleep-waking cycle, and that during this cycle there are prominent changes in postural activity, which affect not only the limbs, but also the axial musculature. These changes are characterized by a decrease followed by a suppression of postural activity, which occur particularly during transition from wakefulness to synchronized sleep and, more prominently, to rapid eye movement (REM) sleep. Episodes of postural atonia may also occur during the cataplectic episodes, which are typical of narcolepsy. Cholinergic and/or cholinoceptive neurons located in the dorsal pontine reticular formation (pRF) and the related medullary inhibitory reticulospinal (RS) system, intervene in the suppression of posture during REM sleep, as well as during the cataplectic episodes which occur in narcolepsy. These structures are under the modulatory (inhibitory) influence of the dorsomedial and the dorsolateral pontine tegmentum, where serotoninergic raphe nuclei (RN) neurons and noradrenergic locus coeruleus (LC) neurons are located. We postulated that M may act not only on the circadian pacemaker, but also directly on the pontine tegmental structures involved in the regulation of posture during the animal states indicated above. This hypothesis is supported by the facts that: 1) the dorsal pRF may contain specific binding sites for M; 2) this structure is particularly sensitive to M in adolescents, as well as in adult subjects affected by narcoleptic disturbances leading to cataplexy; 3) M increases the release of serotonin (5-HT), a neurotransmitter which enhances the postural tone by acting on the dorsal pRF: on the other hand, deficits in M levels may lower the activity of the serotoninergic raphe system, thus leading to a decrease or suppression of postural activity similar to that occurring either during REM sleep or during the cataplectic episodes typical of narcoleptic patients; 4) IS patients may show episodes of sleep apnea, a phenomenon which has been attibuted to a reduced tonic contraction of primary and accessory respiratory muscles during REM, resulting from a reduced release of 5-HT at dorsal pontine level. It has been postulated that, if the reduced M and 5-HT levels are subliminal to produce a complete suppression of posture under the conditions reported above, the reduced postural tone, which results from this condition may lead to the development of IS, due to hypotonia which affects the axial musculature. M secretion could be regulated not only by the activity of the serotoninergic raphe neurons projecting to the pineal gland, but probably also by the activity of noradrenergic LC neurons. It is likely that the development of IS, which results from a reduced level of M and 5-HT, may occur provided that the noradrenergic LC inhibition of the pontine structures is impaired. Such impairment could depend upon genetic factors, similar to those postulated to play a role in narcolepsy. In conclusion, the possibility exists that an impaired activity of brain monoaminergic systems may lead to disfunction in the production of M, which is apparently an important factor in the etiopathogenesis of IS.
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PMID:Pineal gland hormone and idiopathic scoliosis: possible effect of melatonin on sleep-related postural mechanisms. 1200 44

Prader-Willi syndrome (PWS) is a genetic disease caused by a loss of paternal genes located in chromosome 15. Children affected by this syndrome often have preterm delivery; during childhood the hallmarks are: severe infantile hypotonia and feeding problems. Afterward, neurologic manifestations, endocrine signs and dysmetabolic abnormalities are usually seen together with craniofacial manifestations and musculoskeletal abnormalities. Obesity causes sleep abnormalities including sleep apnea. The case we present is of a 5 year old child (CA) scheduled for strabismus surgery. The child has a lot of typical (PWS) signs. A number of anaesthesiologic problems are associated with (PWS). Some of them relate to obesity, others to facial dysmorphism. Moreover, the syndrome may give a prolonged and exaggerated response to every sedative drug. P.W.S. is also characterized by thermoregulatory disorders. Sleep apnea occurs often. Considering all these problems, we planned a monopharmacologic anaesthesiologic procedure using sevoflurane.
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PMID:Monopharmacologic general anaesthesia with sevoflurane in paediatric patient with Prader-Willi syndrome. 1249 25

Prader-Willi syndrome (PWS) is a complex condition with many medical and psychological features. In individuals with this syndrome, causes of death were studied. Data of 27 case reports were collected. Ages at death ranged from neonatal to 68 years. None of the individuals were treated with growth hormone (GH). Most cases were not completely documented and autopsy was performed in a minority of cases only. In five cases, death was considered not to be causally related to PWS. Hypotonia with hypoventilation was noted in the babies, and acute respiratory illness with unexpected sudden death was experienced in young children with PWS. Two young children died after a short period of fever and gastroenteritis. Obesity and its complications leading to death were pronounced in the adult group. One (possibly two) adult(s) died from gastric dilatation and shock. Based on these data, some cautious conclusions can be drawn. In babies with PWS hypoventilation is a risk factor; upper airway infection may be more serious than anticipated and any other clinical features pointing to an infection should be taken very seriously. Therefore, young infants with PWS hospitalized with an upper airway infection and/or hypoventilation or gastroenteritis symptoms, should be closely monitored. Early diagnosis and prevention of overweight is a major factor in preventing early causes of death in individuals with PWS. In the adult group, weight reduction is important but difficult to manage. Sleep apnea should be recognized and treated. Pain in the upper stomach and/or vomiting should be taken as a possible sign of acute intestinal dilatation; intravenous support may be life saving.
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PMID:Prader-Willi syndrome: causes of death in an international series of 27 cases. 1473 79

Prader-Willi Syndrome (PWS) is a genetic disorder characterized by hypotonia, mental retardation or learning disability, hyperphagia and compulsive eating due to hypothalamic dysfunction. Obesity is a major cause of increased morbidity and mortality among patients with PWS. Gastric restrictive surgery has been associated with partial breakdown of the staple-line in PWS. We report two patients with PWS associated with morbid obesity and obstructive sleep apnea who underwent biliopancreatic diversion (BPD). A 27-year-old male with BMI 52 kg/m(2) and a 20 year-old female with BMI 64 kg/m(2) underwent BPD. No perioperative complications were observed. After BPD, the male's BMI was 36.7 kg/m(2) at 12 months and the female's BMI was 48.4 kg/m(2) at 28 months, with excess weight loss 58% and 48%, respectively. They developed loose stools associated with eating. These patients have shown a considerable improvement in hypersomnia and respiratory difficulties. BPD proved to be an effective approach to weight loss in PWS, resulting in improvement of sleep apnea, behavior problems and quality of life.
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PMID:Results of biliopancreatic diversion in two patients with Prader-Willi syndrome. 1597 69

Patients with morbid obesity undergoing gastric bypass surgery present many unique challenges to the healthcare team. Obstructive sleep apnea (OSA) is a common comorbidity in the postoperative gastric bypass patient. The complexity in the management of these patients during and after anesthesia is immense. Anesthetic agents and analgesics increase the severity of symptoms of OSA. Systemic opioid administration depresses the respiratory drive and decreases oxygen saturation. In addition, normal muscle hypotonia during rapid eye movement sleep increases the chance of respiratory complications during the initial postoperative period. Continuous positive airway pressure can effectively treat sleep apnea in the postoperative gastric bypass patient. There are concerns that pressurized air can inflate the stomach and intestines and result in the disruption of the anastomoses of the gastric bypass patient. If weight loss is sufficient, it can lead to an improvement or even cure of symptoms of OSA.
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PMID:Potential complications of obstructive sleep apnea in patients undergoing gastric bypass surgery. 1604 Dec 30

The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microdeletion (del(17)(p11.2p11.2)). We previously described seven subjects with dup(17)(p11.2p11.2) and noted their relatively mild phenotype compared with that of individuals with SMS. Here, we molecularly analyzed 28 additional patients, using multiple independent assays, and also report the phenotypic characteristics obtained from extensive multidisciplinary clinical study of a subset of these patients. Whereas the majority of subjects (22 of 35) harbor the homologous recombination reciprocal product of the common SMS microdeletion (~3.7 Mb), 13 subjects (~37%) have nonrecurrent duplications ranging in size from 1.3 to 15.2 Mb. Molecular studies suggest potential mechanistic differences between nonrecurrent duplications and nonrecurrent genomic deletions. Clinical features observed in patients with the common dup(17)(p11.2p11.2) are distinct from those seen with SMS and include infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies. We narrow the critical region to a 1.3-Mb genomic interval that contains the dosage-sensitive RAI1 gene. Our results refine the critical region for Potocki-Lupski syndrome, provide information to assist in clinical diagnosis and management, and lend further support for the concept that genomic architecture incites genomic instability.
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PMID:Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. 1735 70

Achondroplasia is the most common of the heritable skeletal dysplasias. Compression at the cervicomedullary junction can result in myelopathy, hypotonia, sleep apnea, and even sudden death. However, most children with achondroplasia do not suffer from severe neurological symptoms and achieve normal motor and intellectual development without surgical intervention. At the authors' institution, magnetic resonance (MR) imaging and cerebrospinal fluid (CSF) flow studies have been incorporated in the assessment of children with achondroplasia for cervicomedullary junction compression. The authors recently identified four children with achondroplasia who had normal findings on MR imaging and flow studies obtained in the neutral position. On flexion studies, however, three had complete blockage of CSF flow, and more dramatic posterior cervicomedullary compression was demonstrated on extension studies. Some of these patients had severe neurological abnormalities and sleep apnea, while others just developed headaches and/or had apnea episodes when sleeping or in a car seat. Three children underwent decompressive surgery with dramatic improvement or resolution of signs and symptoms. The fourth patient had increased CSF pressure on MR images obtained in the flexed position, possibly due to venous outflow obstruction. Her condition improved dramatically after placement of a ventriculoperitoneal shunt. The increased risk of dynamic cord compression and alterations in CSF dynamics in patients with achondroplasia constitute indications for surgical intervention.
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PMID:Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. 1815 22


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