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

The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a recently recognised disorder of unknown biochemical background. Diagnostic features have been found in neuroradiological and neuropathological studies, which show characteristic severe cerebellar atrophy. In combined neuroradiological and ophthalmological studies, 10 out of 21 possible PEHO patients fulfilled the criteria for true PEHO syndrome. All were abnormal at birth showing hypotonia, drowsiness, or poor feeding. Head circumference was normal, but usually dropped to 2 SD below average during the first year of life. Visual fixation was either absent from birth or lost during the first months of life. Nine patients had peripheral oedema in early childhood. The mean age of onset of infantile spasms was 4.9 months. All patients were extremely hypotonic and no motor milestones were reached. Patellar reflexes were brisk. Brain stem and somatosensory evoked potentials were abnormal in each case studied, cortical responses of somatosensory evoked potentials could not be elicited, and motor conduction velocities became delayed with age. Altogether 19 PEHO patients were found in 14 Finnish families. Autosomal recessive inheritance is likely.
 ...
PMID:Diagnostic criteria and genetics of the PEHO syndrome. 830 48

The aim of this study was to determine the efficacy, safety, and cost-effectiveness of intrathecal baclofen delivered by a programmable pump for the chronic treatment of severe spasticity. Sixty-six patients with severe spasticity of spinal cord origin that was refractory to oral baclofen or who experienced intolerable side effects with this form of the drug were screened. The first nine participated in a double-blinded, randomized, placebo (normal saline)-controlled trial to determine response to a bolus dose of intrathecal baclofen. Subsequent patients were enrolled in an open-label treatment protocol without a placebo trial. All passed the screening, and the pump was implanted in 59 patients. Spasticity scores and medical costs before and after surgery were analyzed. In all patients, the mean Ashworth score for rigidity decreased from 4.3 preoperatively to 1.4 (p < 0.0005) with use of intrathecal baclofen. The spasm frequency score decreased from a mean of 3.6 to 0.5 (p < 0.0005). Activities of daily living, sleep, and skin integrity improved, and pain was eradicated in some. Constipation occurred in six patients. A reduction in dosage was necessitated by muscular hypotonia in three ambulatory patients, areflexic bladder and urinary retention in three others, and nausea, dizziness, and drowsiness in one. Catheter-related problems occurred 19 times in 15 patients. One pump was explanted because of infection in the pump pocket, and one was removed after it eroded through the skin. There were no pump failures. The use of intrathecal baclofen resulted in a decrease in the average length of subsequent hospitalizations. It is concluded that intrathecal baclofen delivered by an implanted programmable pump is a safe, effective, and cost-efficient method for treatment of severe intractable spinal spasticity.
 ...
PMID:Chronic intrathecal delivery of baclofen by a programmable pump for the treatment of severe spasticity. 912 19

A 4-year-old girl with bilateral striatal oedema in association with an echovirus type 21 infection is reported. In the course of a prolonged upper respiratory-tract infection, the patient developed muscular hypotonia, resting tremor, ataxia, sleepiness, hyperaesthesia, and indistinct speech. T2-weighted cranial MRI revealed bilateral oedema of the basal ganglia and the cerebellar peduncles. At follow-up after 3 months MRI changes and clinical symptoms had fully resolved.
 ...
PMID:Bilateral oedema of the basal ganglia in an echovirus type 21 infection: complete clinical and radiological normalization. 965 85

A case of acute cerebellar ataxia caused by ECHO virus 30.5-year-old boy admitted to the Clinic of Gastroenterology and Nutrition in Warsaw, in September, 1996, complaining of headache, dizziness, weakness, somnolence, dysarthria and an unsteady walk. On neurological examination he had imparied coordination, rombergism, generalized hypotonia. There was no history of exposure to contagious diseases, ear discharge, convulsions, trauma. Parents suggested that the child could have swallowed an unidentified pill--toxicological tests ruled out poisoning. The diagnosis is based on the clinical examination and amplification ECHO virus from CSF.
 ...
PMID:[Acute cerebellar ataxia in a 5-year-old boy. Clinical warnings]. 974 96

Intrathecal baclofen infusion has demonstrated effectiveness in decreasing spasticity of spinal origin. Oral antispasticity medication is minimally effective or not well tolerated in cerebral palsy. This study assessed the effectiveness of intrathecal baclofen in reducing spasticity in cerebral palsy. Candidates were screened by randomized, double-blind, intrathecal injections of baclofen and placebo. Responders were defined as those who experienced an average reduction of 1.0 in the lower extremities on the Ashworth Scale for spasticity. Responders received intrathecal baclofen via the SynchroMed System and were followed for up to 43 months. Fifty-one patients completed screening and 44 entered open-label trials. Lower-extremity spasticity decreased from an average baseline score of 3.64 to 1.90 at 39 months. A decrease in upper extremity spasticity was evidenced over the same study period. Forty-two patients reported adverse events. Most common reports were hypotonia, seizures (no new onset), somnolence, and nausea or vomiting. Fifty-nine percent of the patients experienced procedural or system-related events. Spasticity in patients with cerebral palsy can be treated effectively by continuous intrathecal baclofen. Adverse events, although common, were manageable.
 ...
PMID:Intrathecal baclofen for management of spastic cerebral palsy: multicenter trial. 1069 88

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.
 ...
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.
 ...
PMID:Dentistry's role in the diagnosis and co-management of patients with sleep apnoea/hypopnoea syndrome. 1097 58

Prader-Willi syndrome (PWS) is a genetic disorder, with hypotonia being the predominant feature in infancy, and developmental delay, obesity, and behavioral problems becoming more prominent in childhood and adolescence. Children with this disorder frequently suffer from excessive daytime sleepiness and have a primary abnormality of the circadian rhythm of rapid eye movement sleep. They also have primary abnormal ventilatory responses to hypoxia and hypercapnia, and these abnormalities may be exacerbated by obesity. Children with PWS are at risk of a variety of abnormalities of breathing during sleep, including obstructive sleep apnea and sleep-related alveolar hypoventilation. Clinical evaluation should include a careful history of sleep-related symptoms and assessment of the upper airway and lung function. Polysomnography should be considered for those with symptoms suggestive of sleep-disordered breathing. Treatment options depend on the underlying problem, but may include behavioral interventions, weight control, adenotonsillectomy, and nocturnal ventilation.
 ...
PMID:Sleep and breathing in Prader-Willi syndrome. 1220 50

Three infants with documented mitochondrial fatty acid oxidation disorders are described in this report. Case 1. Carnitine/acylcarnitine translocase deficiency. (CACT) (OMIM 212138) A two-day-old male developed sudden cardiac arrest 48 hours postpartum, with a previous history of early death (day 2) in siblings with a history of parental consanguinity; somnolence, inactivity, refusal to suck within 24 h, hepatomegaly, persistent hypoglycemia, hypocalcemia, hyperkalemia and severe metabolic acidosis prior to cardiac arrest. Dried blood spots by tandem mass spectrometry demonstrated 10 x elevation of palmitoylcarnitine, moderate elevation of oleylcarnitine, steroylcarnitine and myristoylcarnitine. Case 2. Medium chain acyl CoA dehydrogenase (MCAD) deficiency. (OMIM 212139) A six-week-old male infant, developed sudden cardiac arrest after contacting a viral illness, resuscitated successfully in the first episode, only to succumb during the second episode, 2 weeks apart. Plasma acylcarnitine via tandem mass spectrometry was reported normal; however, urine organic acids via gas liquid chromatography and mass spectrometry demonstrated characteristic metabolites consistent with MCADD. Case 3. Carnitine deficiency, systemic primary. (CDSP) (OMIM 212140) A one-year-old girl with progressive dyspnea since birth and a history of parental consanguinity. Severe dilated cardiomyopathy with episodes of cardiac decompensations, hepatomegaly, anemia, generalized hypotonia, but no hypoglycemia were demonstrated prior to cardiac arrest. Extremely low carnitine level noted in dried blood spots via tandem mass spectrometry.
 ...
PMID:Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases. 1240 51

Obstructive sleep apnea (OSA) is a common disorder characterized by disordered breathing and associated with increased mortality and cardiovascular morbidity. A factor in the pathogenesis of OSA is hypotonia of the upper airway muscles during sleep, resulting in occlusion of the upper airway. Nicotine may be a suitable drug because it is a stimulant of breathing and activity of oropharyngeal muscles. A novel delivery system, a nicotine tooth patch (NTP) that releases nicotine continuously, has been developed by Perio Products (Jerusalem, Israel). A 2-mg NTP achieved low plasma levels of nicotine with high saliva levels (62 microg/mL), presumably resulting in high nicotine levels in the oropharynx. The aim of this study was to evaluate the effect of two doses of NTP, 2 mg and 4 mg, on the clinical features in OSA. Ten subjects with OSA were admitted overnight and monitored by polysomnography at baseline and during two treatments. The treatments were blind and in a randomized order. After a 4.3-mg NTP, T(max) was 40 +/- 16 minutes, C(max) was 123 +/- 43 microg/mL, and terminal T(1/2) was 29 +/- 11 minutes in saliva. Substantial nicotine levels persisted in saliva for approximately 4 hours. There was no effect of nicotine on the apnea-hypopnea index, even during the first 4 hours when there were high levels of nicotine in saliva (26.4 +/- 11.6, 26.8 +/- 19.5, and 26.8 +/- 23), or on sleep stages. Eppworth Sleepiness Scale scores were lower with a 4.3-mg NTP (9.1 +/- 4.5, 9.1 +/- 7.7, and 5.9 +/- 6.5). Locally delivered nicotine at the doses used had no significant effect on OSA.
 ...
PMID:Clinical effects of locally delivered nicotine in obstructive sleep apnea syndrome. 1275 24


<< Previous 1 2 3 4 5 6 Next >>