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)

Our experience with a cheap contrast medium, which we prepare ourselves, is described, stretching over a period of 18 months. It is based on the bubbly barium first described by Op den Orth and is made by means of carbon dioxide in a soda water syphon. It is better for detailed contrast examination of the stomach than the commercially available contrast media. It is thought that this is due to optimal viscosity for wetting of the mucosa, optimal size of the barium sulphate particles, which are larger than one micron, and greater distension of the stomach due to greater quantities of CO2. The use of bubbly barium for routine examination of the stomach, using double contrast and hypotonia with graded compression, almost always results in demonstration of the areae gastricae in large parts of the stomach. We regard this as a sign of a good examination, since we are then able to demonstrate small lesions such as complete or incomplete erosions, ulcer scars or flat ulcers.
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PMID:[Improved radiological diagnosis in the stomach by means of an improved contrast material (author's transl)]. 15 49

A 29-year-old obese man had marked tonsillar hypertrophy, somnolence, hypoxemia, and hypercapnia. Endotracheal intubation followed by tracheostomy relieved the hypoventilation. Weight loss improved the arterial blood gas levels. Sequential upright and supine flow-volume loops were compatible with a fixed upper-airway obstruction (such as would occur) with enlarged tonsils) prior to tonsillectomy. Following surgery, the expiratory flow-volume curve was abnormal in the supine position, consistent with the additional diagnosis of posterior pharyngeal hypotonia. Thus, in this patient the unique combination of tonsillar hypertrophy, posterior pharyngeal hypotonia, obesity, and a depressed respiratory center led to retention of carbon dioxide.
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PMID:Tonsillar hypertrophy in an adult with obesity-hypoventilation syndrome. The use of the flow-volume loop. 97 91

Ondine's syndrome is a rare condition characterised by alveolar hypoventilation during sleep on account of an abnormality in the automatic control of respiration. The respiration centre does not react adequately to the carbon dioxide tension in the blood required to maintain normal ventilation. We present a description of the course in an infant with congenital Ondine's syndrome because a therapeutic possibility is now available, viz, implantation of a phrenic nerve pacemaker. The infants showed respiratory insufficiency shortly after delivery. This disappeared on tactile stimulation. The infant had generalised hypotonia with absent patellar reflexes and weak sucking reflexes and, at the age of one week, seizures developed. The infant was treated with assisted ventilation but this could be reduced to use only during the period when the infant slept. The infant was in good health with normal psychomotor development until the age of two years. Plans had been made to implant a phrenic nerve pacemaker. Unfortunately, the infant developed Syncytial-virus pneumonia complicated by bacterial superinfection and developed severe anoxic brain damage which subsequently proved fatal.
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PMID:[Ondine's syndrome (alveolar hypoventilation)]. 150 98

The diagnosis, management, and long-term outcome of 32 patients with congenital central hypoventilation syndrome are summarized. Sleep hypoventilation was severe in all cases, resulting in an alveolar carbon dioxide pressure (mean +/- SEM) of 62 +/- 2.5 mm Hg and a hemoglobin saturation of 65% +/- 3.3% without ventilatory or arousal response. Awake hypoventilation on initial assessment was present in 12 of the 32 patients, resulting in an alveolar carbon dioxide pressure of 58 +/- 2.2 mm Hg and a hemoglobin saturation of 59% +/- 7%. Associated conditions included pulmonary hypertension or cor pulmonale or both (78%), heart block and sick sinus syndrome requiring a cardiac pacemaker (two patients), mild atrophy by cranial imaging evidence (40%), seizures (72%), normal brain-stem auditory evoked responses in all but one patient tested, ganglioneuroblastomas (one patient), Hirschsprung disease (16%), and ophthalmologic abnormalities (60%). Growth was deficient in 44% of patients; hypotonia or major motor delay or both were apparent in all. Twenty-two patients are living; 12 of them require continuous ventilatory support and 10 breathe spontaneously while awake and require ventilatory support while asleep. Ten patients have died. Autopsy performed in six cases indicated diffuse central nervous system astrocytosis, gliosis, and atrophy but no primary brain-stem abnormality. Although these data support a diffuse central nervous system process, the specific cause and the mode of inheritance remain unclear. With early diagnosis and careful ventilatory management, the sequelae of hypoxia and morbidity should be minimized and long-term outcome improved.
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PMID:Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. 153 84

We presented a 3-year-old boy, a product of consanguineous parents, with periodic apnea during waking and sleep states, severe psychomotor retardation and hypotonia. According to polysomnographical recordings, he exhibited frequent central apneas which decreased in frequency and regularity in the stage REM. He showed abnormal background EEG, undifferentiated sleep stage and very short duration of stage REM. The initiation of breathing after apnea was often accompanied with generalized muscles contraction like a startle response. In the waking state the apnea induced generalized muscular hypotonicity and the decline of wakefulness. Arterial CO2 and O2 saturation was within normal limits. It was suggested that the malfunction of the brain stem responsible for the control of breathing, sleep-wakefulness cycle and determination of sleep stages was closely connected with the pathogenesis of abnormal breathing patterns.
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PMID:[A case of three-year-old boy with periodic apnea during waking and sleep, severe psychomotor retardation and hypotonia]. 240 Jun 15

Non-ketotic hyperglycinemia is one of inborn metabolic errors that manifest by epileptic seizures of difficult control from the first days of life in hypotonic newborn children. The lack of enzyme that catalyzes the conversion of glycine to hydroxymethyltetrahydrofolic acid, carbon dioxide and ammonia, in liver and brain, results in increased concentration of glycine in blood. It is reported in this study a case of non-ketotic hyperglycinemia diagnosed in neonatal period and characterized by hypotonia and non-controlled multiple seizures. The clinical and electroencephalographic findings, treatment as well as anatomopathologic study are discussed.
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PMID:[Non-ketotic hyperglycinemia. Study of a case]. 360 38

Three children from unrelated families presented in early childhood with hypoglycemia and cardiorespiratory arrests associated with fasting. Significant hepatomegaly, cardiomegaly, and hypotonia were present at the time of initial presentation. Ketones were not present in the urine at the time of hypoglycemia in any patient; however, dicarboxylic aciduria was documented in one patient at the time of the acute episode and in two patients during fasting studies. Total plasma carnitine concentration was low with an increased esterified carnitine fraction. These findings suggested a defect in mitochondrial fatty acid oxidation, and specific assays were performed for the acyl coenzyme A (CoA) dehydrogenases. These analyses showed that the activity of the long-chain acyl CoA dehydrogenase was less than 10% of control values in fibroblasts, leukocytes, and liver tissue. Activities of the medium-chain, short-chain, and isovaleryl CoA dehydrogenases were not different from control values. With cultured fibroblasts, CO2 evolution from long-chain fatty acids was significantly reduced, while CO2 evolution from medium-chain and short-chain fatty acids was comparable to control values--findings consistent with a defect early in the beta-oxidation sequence. Studies of acyl CoA dehydrogenase activities in fibroblasts and leukocytes from parents of the patients showed levels of long-chain acyl CoA dehydrogenase activity intermediate between affected and control values and indicated an autosomal recessive form of inheritance of this enzymatic defect.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. 402 72

Four children were found to have clinically significant obstructive sleepapnea. Hypertrophy of the nasopharyngeal lymphoid tissue, specifically the adenoid and tonsils causing obstructive sleepapnea in children, is a well defined clinical entity with nocturnal CO2 retention, retarded growth and impaired physical and psychological status. A small number of these children may develop pulmonary hypertension, cor pulmonale and ultimately death. Children with only moderately enlarged tonsils in association with neuromuscular hypotonia and anatomical defects may also develop this syndrome. Polysomnographic monitoring during natural sleep proved useful in confirming the diagnosis. All patients had improved after surgical relief of airway obstruction. The subjective impressions were documented by objective improvement: normalization of growth curves, ECG improvement of cor pulmonale and improvement of bloodgasses. Increased awareness of obstructive sleepapnea and examination of the sleeping patient and polysomnographic monitoring should result in earlier treatment and less morbidity for children with obstructive sleepapnea.
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PMID:[Obstructive sleep apnea syndrome]. 652 17

An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for this defect. Histological and ultrastructural examination of muscle biopsy specimens showed several necrotic fibres. GALT activity was undetectable in skeletal muscle and muscle tissue cultures; myotubes converted galactose to CO2 at a lower rate than controls. Galactose-1-phosphate was increased in the patient's red cells and muscle tissue. GALT deficiency, not previously described in muscle, may be of pathogenic relevance in determining the myopathic features present in GALT deficiency syndrome.
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PMID:Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency. 832 30

Benzodiazepines are known to cause muscle hypotonia, but their effects on respiratory muscle function, particularly on diaphragm, have not yet been studied. Our aim was to look for any effect of lorazepam on respiratory muscle function in patients with chronic obstructive pulmonary disease (COPD). Nine stable COPD patients (mean +/- SD forced expiratory volume in one second (FEV1) 0.91 +/- 0.31 l) were included in the study. The following measurements were performed before and 1 hour after lorazepam administration (doses: 1.5 to 2 mg) by sublingual route: forced vital capacity (FVC), FEV1, maximal voluntary ventilation (MVV), arterial oxygen tension (PaO2), arterial carbon dioxide tension (PaCO2), minute ventilation (Ve), tidal volume (Vt), respiratory rate (f), inspiratory time/inspiratory plus expiratory time (Ti/Ttot)-, mean inspiratory flow (Vi), maximal inspiratory (MIP) and expiratory (MEP) pressures, maximal pleural pressure (Pplmax), transdiaphragmatic pressures (Pdi) and skeletal muscle strength and endurance. As expected, no change was noted in FVC, FEV1, FEV1/FVC (Table-1). Besides stability of expiratory flows, this denotes no change in collaboration in spite of the sedative effects of lorazepam. There was a 20% decrease in Ve, due to a Vt reduction and a small increase in PaCO2. These could be explained by the central effects of benzodiazepines. Skeletal muscle strength and endurance decreased significantly (22 and 50% respectively-Table 2), in accordance with the previously reported muscular actions of this pharmacological group. Respiratory muscle function parameters, MIP, MEP, MVV and Ppl showed significant reductions (10 to 20 per cent), as was the case with diaphragmatic function measured by Pdi (Muller maneuver with abdominal protrussion and maximal open-glottis expulsive maneuver) (Table 3). This study demonstrates that a single lorazepam dose reduces strength and endurance of respiratory muscle in chronic stable COPD patients.
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PMID:[Acute effect of lorazepam on respiratory muscles in stable patients with chronic obstructive pulmonary disease]. 964 Jul 77


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