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 airway of the young infant is anatomically vulnerable at the oropharyngeal level between the soft palate and the base of the skull. Airway occlusion at this level might occur during the muscle relaxation which occurs during REM sleep, facilitated by a hypermobile mandible, by the hypotonia of infection, perhaps by an enlarged tongue with a strong backwards sucking action which might be the result of the artificial feeding of the infant. It is possible that "cot deaths" (SIDS) may be precipitated by such oropharyngeal airway occlusion, cardiac arrest following variable periods of partial or complete oxygen deprivation.
 ...
PMID:Sudden infant death syndrome: hypothesis of causation. 16 52

Forty-seven healthy parturients undergoing elective Caesarean section were randomly allocated to either general anaesthesia (n = 24) or epidural anaesthesia (n = 23) under standardized anaesthetic and surgical conditions. Seven women of the epidural group required additional systemic analgesia or sedation following delivery of the neonate. Nine of 24 newborns obtained 1-min Apgar scores below 7 after general anaesthesia compared to only 3/23 after epidural anaesthesia. The time period to establish normal colour in the babies was 2.2 min after epidural and 4.9 min after general anaesthesia. Three of the 24 general-anaesthesia newborns demonstrated a tendency to hypotonia compared to only one in the epidural group. Twenty-four hours and 7 days after delivery all infants of both groups were completely normal. At the time of delivery maternal PO2 was higher in the general anaesthesia compared to the epidural group, due to higher inspired oxygen concentrations. Comparable results were obtained in umbilical PO2 venous values; lower pH values, however, were observed in the umbilical artery after general anaesthesia. There were no significant differences in the glucose levels between the groups. A significant correlation was established between uterine incision-delivery interval and 1-min neonatal Apgar scores in the general-anaesthesia group, but not in the epidural group. Our investigation did not show either the incision-delivery interval or the start of operation-delivery interval to play a role in neonatal outcome. Epidural anaesthesia is superior to general anaesthesia in Caesarean section under normal conditions with regard to neonatal outcome. Whether this is also true for critical conditions cannot be concluded from this study.
 ...
PMID:General anaesthesia versus epidural anaesthesia for primary caesarean section--a comparative study. 173 94

The value of vasodilatatory treatment of pulmonary hypertension due to chronic obturative pulmonary disease (c.o.p.d.) is still controversial. However in patients with c.o.p.d. causal treatment as well as chronic domestic oxygen therapy have a wide range of limitations. Among vasodilator alpha-1 blockers show less vasodilator-related adverse effects, and as known from acute trials they exert a potent effect on pulmonary circulation in patients with pulmonary hypertension and c.o.p.d. Prazosin was studied in 11 patients (10 men, 1 women) aged 63 +/- 7 years with advanced c.o.p.d. (FVC 1.8 +/- 0.41, FEV1 0.99 +/- 0.55 l) (s) after their clinical stabilisation. In 4 of them prazosin was added to the maintenance dose of diuretics and digitalis. Subjective status, NYHA functional class, spirometric (FVC, FEV1) and gaseous (PaO2, PCO2) parameters, weight, systemic blood pressure, and heart rate were noted. During Swan-Ganz catheterization mean pulmonary artery pressure (MPAP), right ventricular end-diastolic pressure (RVEDP), pulmonary wedge pressure (PCWP), cardiac output (CO), systemic (SVR) and pulmonary (PVR) vascular resistance were measured. The acute trial with 1 mg prazosin taken orally was followed by 2- and 6-week of 3 mg prazosin treatment assessment. After a single dose of 1 mg prazosin there was a significant decrease in MPAP from 36 +/- 9 to 28 +/- 10 (p = 0.001) and 44% decrease in RVEDP (p = 0.05). CO increased by 16% (p = 0.01). The fall in PVR (30%, p = 0.01) exceeded that in SVR (17%, NS). No adverse effects were observed. During 2-week 3 mg a day prazosin therapy 2 patients were excluded following dyspnea and systemic hypotonia.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Clinical and hemodynamic evaluation of 6-week treatment of pulmonary hypertension in chronic obstructive lung diseases (COLD) with low dose of prazosin]. 208 1

Pulmonary hypertension without any cardiovascular malformation was diagnosed by heart catheterization in a 4 year old girl with trisomy 21. A suspected obstructive sleep apnea syndrome was confirmed by polysomnography which revealed numerous obstructive apneas and hypopneas (apnea-index 23/h) with marked oxygen desaturation and a disturbed sleep pattern. Three months after adenotonsillectomy the mother reported her daughter having a quiet sleep without snoring. Polysomnography did not show any apnea nor any oxygen desaturation below 90%. A decrease of the pulmonary artery pressure was documented. Facial dysmorphias and muscle hypotonia predispose patients with trisomy 21 to obstructive sleep apnea, especially if hypertrophy of tonsills and adenoids coexist. Frequent arousals and hypoxia during sleep can result in failure to thrive and pulmonary hypertension. These consequences can be prevented by early diagnosis and treatment.
 ...
PMID:[Obstructive sleep apnea syndrome in a child with trisomy 21]. 215 Aug 74

Neurophysiological studies were performed on 8 patients with group A xeroderma pigmentosum during early childhood. EEG, ABR and NCV were normal during this period. In contrast, various sleep parameters detected by polysomnography showed abnormal findings even in the neurologically normal patient. Decreased % sleep REM was seen in a case, and decreased frequency of REMs were seen in another. Body movements were extremely high or low in frequency in 3 cases in whole night sleep. The distribution of body movements were abnormal; in control subjects, the frequency was higher in SREM and stage 1 than in slow wave sleep; in 7 cases, it was higher in slow wave sleep than in stage 1 or 2, or body movements were extremely frequent. Neurological examination revealed soft signs in various systems in early childhood. All cases except one showed hypotonia. Many cases were slow in learning to walk and the gait was unstable. Speech delay and decreased deep tendon reflexes, especially of patella, were seen in most cases. Since the neural deficits in XP may be related to the DNA repair defect, these findings indicate the possibility that some endogenous compounds distributing all over the nervous system might produce the DNA damages. Because the body movements during sleep are controlled by the nigrostriatal dopaminergic system, present data indicate that the basal ganglia might be one of the earliest degenerative systems in the CNS. Recently, some studies have suggested the possibility that oxygen radical mechanisms might be involved in the development of the dopamine neurodegenerative process in Parkinson's disease.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Neurophysiological studies on group A xeroderma pigmentosum in early childhood]. 217 31

A mitochondrial defect was investigated in an infant with fatal congenital lactic acidosis (3-14 mM), high lactate-to-pyruvate ratio, hypotonia, and cardiomyopathy. His sister had died with a similar disorder. Resting oxygen consumption was 150% of controls. Pathological findings included increased numbers of skeletal muscle mitochondria (many with proliferated, concentric cristae), cardiomegaly, fatty infiltration of the viscera, and spongy encephalopathy. Mitochondria from liver and muscle biopsies oxidized NADH-linked substrates at rates 20-50% of controls, whereas succinate oxidation by muscle mitochondria was increased. Mitochondrial NADH dehydrogenase activity (complex I, assayed as rotenone-sensitive NADH oxidase, NADH-duroquinone reductase, and NADH-cytochrome c reductase) was 0-10% of controls, and NADH-ferricyanide reductase activity was 25-50% of controls in the mitochondria and in skin fibroblasts. Activities of other electron transport complexes and related enzymes were normal. Familial deficiency of a component of mitochondrial NADH dehydrogenase (complex I) proximal to the rotenone-sensitive site thus accounts for this disorder.
 ...
PMID:Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. 311 Feb 16

We observed a deficiency of both the mitochondrial and cytosolic forms of fumarase in a male infant with mitochondrial encephalomyopathy who presented at one month of age with failure to thrive, developmental delay, hypotonia, cerebral atrophy, lactic and pyruvic acidemia, and fumaric aciduria. The patient died at eight months of age. Isolated skeletal-muscle mitochondria showed selective defects in the oxidation of glutamate (31 ng atoms of oxygen consumed per minute per milligram of mitochondrial protein, as compared with 94 +/- 19 [mean +/- SD] in five controls) and of succinate (18 vs. 145 +/- 18 ng atoms of oxygen per minute per milligram of protein), whereas isolated liver mitochondria oxidized these and other substrates normally. Fumarase activity was virtually absent in both liver mitochondria (53 vs. 2878 +/- 248 nmol per minute per milligram of protein [5 controls]) and skeletal-muscle mitochondria (23 vs. 1997 +/- 717 nmol per minute per milligram [12 controls]). Seventeen other mitochondrial enzymes had normal activity in both liver and muscle mitochondrial extracts. Fumarase activity was also significantly reduced in homogenates of liver tissue (less than 1 vs. 90 +/- 25 mumol per minute per gram of wet weight [five controls]) and skeletal muscle (less than 1 vs. 21 +/- 4 mumol per minute per gram [five controls]), indicating a deficiency of both mitochondrial and cytosolic fumarases. Organ differences in intramitochondrial accumulation of fumarate may have accounted for the selective oxidative defects observed in the skeletal-muscle mitochondria but not liver mitochondria. All these findings are consistent with a profound combined fumarase deficiency.
 ...
PMID:Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. 373 29

The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia, cirrhosis, iron and lipid storage, and death within 6 months. Correlated electron microscopic, histochemical, and biochemical studies demonstrate defects in two oxidative organelles. Peroxisomes cannot be found in hepatocytes and renal proximal tubules. In hepatocytes and cortical astrocytes, mitochondria are distorted in their appearance and glycogen stores are increased. Oxygen consumnption of brain and liver mitochondrial preparations with succinate and with substrates reducing nicotinamide adenine dinucleotide is markedly diminished, but the consumption is normal with ascorbate and tetramethylphenylenediamine, which suggests a defect in electron transport prior to the cytochromes. Histochemical studies of mitochondrial oxidation point to a defect between the succinate dehydrogenase flavoprotein and coenzyme Q, possibly in the region of nonheme iron protein.
 ...
PMID:Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. 473 55

Polygraphic study in 18 men with the sleep apnoea syndrome showed central, upper airway obstructive, and mixed apnoeas. Fifty per cent of the total apnoea time was central, 33% was obstructive, and 17% was mixed. Apnoeic episodes were accompanied by oxygen desaturation, relative bradycardia and hypotonia of orofacial muscles innervated by ponto-medullary neurons. During regular breathing these muscles revealed tonic and phasic inspiratory EMG activities. The data suggest that the primary sleep apnoea syndrome results from a dysfunction of the central control of breathing.
 ...
PMID:Primary sleep apnoea syndrome. 733 97

The objectives of this study were to determine if infants delivered with severe acidemia (cord umbilical arterial pH < 7.0) had short-term neurologic effects and whether infants with persistent bradycardia who received cardiopulmonary resuscitation (CPR) in the delivery room would be at greatest risk for subsequently developing neonatal seizures. Forty-seven infants (39 term, 8 preterm) delivered with severe fetal acidemia were studied. The mean (+/- S.D.) for pH, PaCO2, and base deficit for the 47 infants was 6.86 +/- 0.11, 97 +/- 22 mm Hg, and -17 +/- 4, respectively. Labor complications were common and included placental abruption in 8, ruptured uterus in 4, cord prolapse in 3, fetal heart rate decelerations in 12, and other (n = 14). Most infants were delivered via emergency cesarean section (n = 29). Delivery room interventions included oxygen and bag/mask ventilation only (n = 20) and intubation and ventilation (n = 22); 7 of 22 infants received CPR and epinephrine for persistent bradycardia (heart rate < 80 beats/min despite ventilatory support). Five infants required no intervention. Eight infants (17%) had seizures; 6 of these infants received CPR in the delivery room. Short-term outcomes were abnormal in 7 of 8 infants (i.e., death in 5, abnormal neurologic examination at discharge in 2). In 39 infants without seizures, 32 had transient neurologic abnormalities (i.e., irritability, hyperreflexia, proximal hypotonia) which resolved by discharge, and 2 had abnormal and 5 normal examinations.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Severe fetal acidemia: neonatal neurologic features and short-term outcome. 821 39


1 2 3 4 5 Next >>