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)

The authors review the literature on the oculo-mandibulo-facial syndrome and present the case of a six-year-old boy with congenital cataracts, microphthalmos, nystagmus, failure to thrive, dysmorphic features with a tiny pinched nose, mandibular hypoplasia, microstomia, double chin, chronic snoring, recurrent respiratory infections and dental problems. Chronic obstructive sleep apnoea with decreased oxygen saturation was present. Optimal medical management of OMFS-patients is described.
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PMID:A new look at the management of the oculo-mandibulo-facial syndrome. 159 91

A hemimedullary infarction, in which both medial and lateral medullary infarctions occur simultaneously, is a rare cerebrovascular disease. Pontomedullary lesions often cause central respiratory failure, and the majority of central respiratory failures are due to bilateral pontomedullary lesions. We report a 66-year-old man with central respiratory failure due to a hemimedullary infarction detected by magnetic resonance imaging. He was admitted to our hospital on March 7, 1998, because of a sudden onset of dysarthria, and both numbness and weakness on his left side. Soon after arriving at the hospital, his spontaneous respiration ceased. Therefore, he was intubated and artificial ventilation was started. Pertinent neurological abnormalities on admission consisted of dysarthria, dysphagia, right Horner's sign, right gaze evoked horizontal nystagmus, right soft palate palsy, and tongue deviation to the right. In addition, left hemiparesis, left Babinski's sign, sensory impairment on the left side including the face, and central respiratory failure were noted. Although voluntary respiration recovered in 12 days, sleep apnea continued for 5 months, which was considered to be due to the automatic respiratory failure. An important feature of this patient was that the hemimedullary infarction caused the central respiratory failure. To our knowledge, this is the third patient whose central respiratory failure occurred because of a hemimedullary infarction.
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PMID:[A case report of central respiratory failure due to hemimedullary syndrome]. 1118 17

The Rubinstein-Taybi syndrome (RTS) is a rare but well-defined condition characterized by growth and mental retardation, broad thumb-hallux, and distinctive facial features. Ten unrelated Taiwanese children (6 boys and 4 girls) with clinical features suggestive of RTS were evaluated. The associated anomalies included cryptochidism (6/6 males), microcephaly (9/10), congenital heart diseases (8/10), pectus excavatum (5/10), low IGF-I level (4/10), strabismus/nystagmus (4/10), epilepsy (3/10), glaucoma (2/10), cleft palate (2/10), web neck (2/10), limb hypoplasia (2/10), sleep apnea (1/10), and vesico-ureteral reflux (1/10). All of them had normal thyroid function. High-resolution chromosome studies by both G- and R-banding were applied to detect any microscopic chromosomal deletion, particularly over the 16p13 region (responsible for RTS locus). A panel of five cosmids spanning the human cyclic AMP-responsive element binding (CREB) binding protein (CREBBP or CBP) gene in terms of RT100, RT102, RT191, RT203 and RT166 (Leiden, the Netherlands) were used for fluorescence in situ hybridization on the metaphases of those patients. Three cases showed whole or partial deletion of one copy of the CBP gene. Thus, the rate for detecting interstitial submicroscopic deletion of this region by FISH was about 30% in these RTS patients. The disease severity seemed to be correlated with size of the deletion.
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PMID:Rubinstein-Taybi syndrome: clinical and molecular cytogenetic studies. 1623 61

The Chiari type 1 malformation is common. Unlike the Chiari type 2 and 3 malformations, it may remain latent for a long time, becoming symptomatic only in adulthood. The introduction of MRI has resulted in an increased number of diagnoses of this malformation in pediatric patients. It appears to be related to underdevelopment of the posterior cranial fossa. It must be differentiated from acquired tonsillar herniation, particularly when herniation results from intracranial hypotension; these cases are sometimes reported as acquired Chiari I malformation with spontaneous resolution. Tonsillar ectopia may cause symptoms by its direct effect on any or all of the medulla and the cerebellar and upper spinal cord. The most suggestive of the oculomotor disturbances is oscillopsia with downbeat nystagmus. Dysphonia and dysphagia are common. Potentially serious autonomic disturbances are also frequent: sleep apnea, respiratory failure, syncope and even sudden death. Another risk is syrinx formation, resulting from obstruction of CSF circulation in the cisterna magna. Syringomyelia is detected in 32 to 74% of patients with Chiari I malformation. Treatment is surgical. Posterior fossa decompression is achieved by suboccipital craniectomy combined with laminectomy of the upper cervical segments. Surgical intervention is indicated when the malformation is symptomatic and there is no doubt that it is the cause of the symptoms. When a Chiari I malformation is identified fortuitously on MRI, long-term monitoring is essential. The risk of developing symptoms increases over time. Patients should be advised not to participate in contact sports.
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PMID:[Chiari type 1 malformation and magnetic resonance imaging]. 1632 7

Multiple system atrophy (MSA) is a progressive neurodegenerative disease that is characterized by varying degrees of parkinsonism and cerebellar, corticospinal, and autonomic dysfunction. Vocal cord abductor paralysis (VCAP) is considered a sign of a poor prognosis in MSA, because it is a life-threatening complication that may cause nocturnal sudden death. This case report presents a patient who was treated for Parkinson's disease, and complained of dizziness and sleep apnea. We examined VCAP using fiberoptic laryngoscopy as the possible cause of sleep apnea. VCAP usually occurs in the advanced stages of MSA and is accompanied by a worsening of other symptoms. Optokinetic nystagmus was severely impaired and the caloric test response was bilaterally absent. Objective findings such as VCAP and abnormal neuro-otological results led to the diagnosis of MSA.
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PMID:Vocal cord abductor paralysis in multiple system atrophy: a case report. 1834 May 90

We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers.
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PMID:Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. 2194 86

There exist a large number of drugs belonging to the benzodiazepine family. These include the 1,4-benzodiazepines such as diazepam, temazepam and oxazepam, the often more potent diazolo- and triazolo-groups represented by alprazolam, midazolam, triazolam etc. These drugs represent a large range of potencies from submilligram doses to over 100 mg and a range of polarities. Consequently, blood or plasma concentrations associated with prescribed use range from sub-nanogram per mL to near-microgram per mL. Their medical use varies, but they are predominantly used as hypnotics and sedatives. Some members are also used in the treatment of post-traumatic stress and obsessive-compulsive disorders, alcohol withdrawal, muscle spasm, and seizures. Recreationally, drug users favor these drugs to reduce the symptoms of withdrawal and unpleasant effects of heroin and cocaine. They are also commonly used as "date-rape" drugs to render a victim incapable of resisting an attack. Benzodiazepines elicit a large number of physiological and psychological responses in humans that often can lead to significant behavioral changes and adverse effects on skills required for safe driving. These include reduced lane control, increased reaction times, reduced hand-eye coordination and cognitive impairment. Impairment can exceed that seen with 0.05 g% ethanol. In high doses benzodiazepines can cause persons to exhibit classical features of CNS-depressant drugs such as nystagmus, ataxia, slurred speech, and impaired divided attention skills. As one would expect with hypnotics and sedatives, any sleep deprivation, or situations involving monotonous driving can lead to a reduced ability to concentrate and maintain vigilance. Adverse effects on REM and NREM sleep patterns will exacerbate fatigue-related components to driving. Persons with sleep abnormalities, e.g., sleep apnea, may be more likely to be affected by benzodiazepines than those with normal sleep patterns. Ethanol and narcotic analgesics also affect sleep patterns and may compound any CNS-depressant effects associated with the use of benzodiazepines.
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PMID:Benzodiazepines - Effects on Human Performance and Behavior. 2625 85

Ventral brainstem compression is an uncommon clinical diagnosis seen by pediatric neurosurgeons and associated with Chiari malformation, type I. Presenting clinical symptoms often include headaches, lower cranial neuropathies, myelopathy, central sleep apnea, ataxia, and nystagmus. When ventral decompression is required, both open and endoscopic transoral/transnasal approaches are highly effective.
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PMID:Ventral Decompression in Chiari Malformation, Basilar Invagination, and Related Disorders. 2640 67

Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transplant years ago without the true diagnosis of the disorder. Brain imaging revealed the classic "molar tooth sign" appearance, and clinical evaluation established the diagnosis for both of the siblings. Imaging should be done to evaluate the neuroradiological findings of Joubert syndrome. With a neonate with Joubert syndrome in a family, antenatal diagnosis by ultrasound is crucial for future siblings.
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PMID:Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review. 2849 78

Background: Fragile-X associated tremor/ataxia syndrome (FXTAS) is commonly associated with T2 hyperintensity in the middle cerebellar peduncles (MCP) on magnetic resonance imaging (MRI). However, ischemic stroke in the MCP in a patient with FXTAS has not previously been described. Case Description: A 61-year-old man with hypertension, sleep apnea, obesity, and FXTAS presented to the emergency department with 2 days of worsening balance and nausea which began 2 days after chiropractic neck manipulation. Examination revealed new nystagmus and worsening dysmetria. Workup revealed an acute infarct in the left MCP, atherosclerotic narrowing of the V4 segment of the left vertebral artery, inadequately controlled hypertension, and a LDL of 127. Conclusion: Isolated MCP infarcts are rare and typically associated with hypoperfusion in the setting of vertebral artery disease and neck manipulation. We suspect that underlying neurodegeneration due to FXTAS with superimposed small vessel disease and neck manipulation may have caused preferential damage to the Purkinje cells in the MCP.
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PMID:Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS. 2988 75


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