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)

A dysmorphic retarded fourteen-mont-old female with partial deletion of the long arm of chromosome 6 is presented. The breakpoint in 6q was in region 2, probably at band 5. Eight other infants with a deletion involving the long arm of chromosome 6, including five with a ring chromosome 6, have been reported. The affected individuals have in common microcephaly, micrognathia, hypotonia and psychomotor retardation, but do not appear to have a distinctive phenotype.
Ann Genet 1978 Dec
PMID:Chromosome 6q- and associated malformations. 31 59

The brain cortex of rabbits exposed to 15-minute ishemia in the presence of monitored hypotonia was studied in 27 experiments in order to verify the efficacy of nootropil and contrykal as agents intended for the treatment of posthypoxic edema of the brain. The therapeutic efficacy was assessed on the basis of the evidence obtained with the aid of light and electron microscopy. It was found that nootropil exerts a favourable action on the ultrastructure of intracellular organella of the neuron: mitochondria, lysosomes, ribosomal apparatus, nuclear envelope, etc. Under the effect of nootropil and contrykal the posthypoxic microcirculatory changes showed signs of compensation and proved reversible. Manifestations of posthypoxic edema of the brain were less pronounced. It is suggested that the efficacy of the treatment regimen offered is related to the normalizing effect of nootropil on metabolic and repair processes in neurons and cellular elements pertaining to the microcirculatory system as well as with a direct action of contrykal on the local factors of capillary permeability.
Biull Eksp Biol Med 1979 Dec
PMID:[Effect of nootropil and contvykal on the structural changes in the central nervous system in hypoxic brain edema]. 31 39

Eight cases of late infantile neuroaxonal dystrophy are reported. In all cases, the diagnosis was made during life on the basis of the clinical picture and course, the results of neurophysiological studies and the finding of typical spheroids in cortical or peripheral (skin and conjunctival) biopsies. A review of 76 previously published cases revealed that 42 displayed a stereotyped clinical picture identical to that exhibited by our 8 patients. The most important clinical features, as they emerge from the study of these 50 cases, are those of a progressive disorder starting at the end of the first or beginning of the second year of life, progressive motor and mental deterioration bilateral pyramidal tract signs, marked hypotonia and early visual disturbances without epileptic seizures. The presence of high voltage, fast rhythms in the EEG and signs of denervation of an anterior horn-cell type at EMG, with normal nerve conduction velocities, is frequent additional evidence in favour of infantile neuroaxonal dystrophy. The finding of spheroid bodies in axonal endings seems to be constant and is necessary for an in vivo diagnosis. Spheroids can be found in peripheral tissues, for example, skin and conjunctiva, and cortical biopsy is no longer required. The spheroids, however, are not specific and both clinical and pathological features are necessary to establish a firm diagnosis. Since infantile neuroaxonal dystrophy is a recessively inherited disorder its recognition is imperative even though the nosology of the disease remains uncertain.
Brain 1979 Dec
PMID:Infantile neuroaxonal dystrophy. 50 95

The authors report three patients suffering since infancy from transient attacks of paresis. The flaccid pareses most frequently affect the extremities in a hemiplegic fashion, but occasionally there is monoparesis or quadriparesis. The laterality and degree of the paresis are variable. Conciousness is always preserved, and in two cases attacks were preceded by ocular motor disturbances (skew deviation, nystagmoid jerks and conjugate deviations). Exceptionally, the transient hemiparesis may be preceded by a grand mal epileptic fit, though they are more likely to appear sporadically and independently of the paretic changes. In the interparoxysmal periods the children showed pronounced hypotonia, hyperkinetic extrapyramidal features and oligophrenia. Neuroradiological procedures have excluded brain anomalies of vascular or other aetiology and simple biochemical analyses were negative. EMG during paretic periods have revealed central motor neuron lesions, while EEG demonstrated non-specific paroxysmal features. A brain-stem dysfunction in the aetiology is postulated.
Dev Med Child Neurol 1979 Dec
PMID:Paroxysmal hemipareses in childhood. 52 Jul 18

A 3-year 8-month-old girl died after 14 months of illness characterized by episodes of intermittent ataxia associated with oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness. In the last 4 months of life, there were signs of liver dysfunction. Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase activities were normal in autopsy brain specimens and in cultured fibroblasts from the patient. Carnitine acetyltransferase was deficient in liver, brain, kidney, and cultured fibroblasts. Medium- and long-chain carnitine acyltransferase activities were normal. It is proposed that a functional defect of acetyl-coenzyme A (acetyl-CoA) utilization in brain mitochondria accompanies the carnitine acetyltransferase deficiency.
Neurology 1979 Dec
PMID:Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: a functional defect of pyruvate oxidation? 57 20

Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and hyperextensibility of distal joints, contractures of proximal joints, high-arched palate, hyperhidrosis, posterior protrusion of calcaneus, and no progression. Muscle biopsies revealed dystrophic changes. Ullrich suggested that this condition was a new entity, but the disease has received little attention. In the present cases superior intelligence and tendency to recurrent upper respiratory tract infections were stressed as characteristics of this disorder. Insufficient cellular immunity was suspected and this may contribute to the recurrent upper respiratory tract infections and pneumonia often observed. This disease is considered a distinct entity of multisystemic involvement inherited as an autosomal recessive trait.
J Med Genet 1977 Dec
PMID:Congenital, hypotonic-sclerotic muscular dystrophy. 60 94

The double-contrast method, mucosal-relief study and compression technique associated with pharmacological hypotonia were retrospectively compared for accuracy in diagnosing 13 proved cases of shallow gastric ulcers. The double-contrast method was significantly more accurate than the other two.
Radiology 1978 Dec
PMID:Radiographic diagnosis of shallow gastric ulcers: a comparative study of technique. 72 31

Ultramicroscopic changes of subsarcolemmal fingerprints in the muscle of children with infantile hypotonia and weakness may represent a specific congenital entity. Four children have been reported so far. The two children reported in the present paper are the first full siblings to be described and, in addition, are identical twins. Four of these six children also had mental retardation, which suggests that this disorder may carry with it a significant risk of central nervous system abnormality.
Dev Med Child Neurol 1978 Dec
PMID:Fingerprint body myopathy: a report of twins. 72 32

The incidence of bacteriuria and cystoscopic changes in 200 women using oral contraceptives from 1 month to 2 years and 150 users of IUD were compared with 50 women using neither method. Bacteriuria in midstrean urine samples of all subjects were identified qualitatively and quantitatively by the method of Stamey et al. Cystoscopy was performed on all subjects. Positive bacteriuria were found in 40.5% of patients on oral contraceptives, 20% of IUD users, and 16% of the control group. Positive pathogenic bacterial cultures in women using oral contraceptives were proportional to the length of time the pill had been used: 27% for 1 year users, 35% for 2 year users, and 50% for longer users. The potency and dosage is correlated with the pathogenic effects observed. Bladder trabeculations were found in 50.5% of oral contraceptive users, 8.7% of IUD users, and 8% of control subjects. The highest incidence was in subjects using pills for 2 years or more, and is correlated with the dosage used. Bladder trigone congestion was observed in 24.6% of IUD users; 56% of users from 1 to 3 months, 35% of users more than 2 years, and no users between these time extremes. The high incidence of bladder trabeculations might be explained by the effect of progestogens and estrogens on bladder tone; progestogens producing hypotonia and estrogens hypertonia. The IUD should not be used more than 2-3 years continuously to avoid urinary bladder effects and inflammatory pelvic disease.
Urology 1976 Dec
PMID:Effects of contraceptive pills and intrauterine devices on urinary bladder. 79 41

Three siblings suffering from recurrent vomiting, hypotonia, hyperpnea, dehydration, and ketoacidosis were diagnosed as having ketotic hyperglycinemia secondary to propionic acidemia. They also had leukopenia and thrombocytopenia, and two of them had anorectal malformations, one an imperforate anus with rectoperineal fistula, and the other an ectopic anus. The occurrence of propionic acidemia and anorectal anomalies in three siblings out of eight children in a consanguineous marriage suggests an autosomal recessive genetic inheritance.
Am J Dis Child 1977 Dec
PMID:Propionic acidemia and anorectal anomalies in three siblings. 93 Aug 88


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