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)

Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome No. 22. The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post-natal growth retardation, mental retardation with further severe deterioration at 3-5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low-set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
Clin Genet 1978 Sep
PMID:Complete trisomy 22. 56 44

The binding of vital anionic phthalocyanine dye Heliogen blue K (HBK) by crab axons has been studied cytophotometrically. HBK koes not penetrate the cell but stains membranes selectively. The removal of Ca-ions from the surrounding artificial sea water (a.s.w.) leads to an obvious desorption of an ion-bound fraction of HBK from the fibre, provided the removal of Ca-ions from a.s.w. is combinded with slight hypotonia or with addition of EDTA. The hypotonia, which has no effect on sorption, causes swelling of fibres facilitating the removal of Ca-ions from membrane, i.e. the effect similar to that of EDTA. In the Ca-ions devoid hypotonic solution, the decrease of sorbed dye makes up 1.4% per minute of the initial concentration, and in the hypotonic solution with EDTA - this decrease reaches 0.95%. It is suggested that the withdrawal of Ca-ions from the membrane results in conformational changes of the membrane protein component. These changes are expressed as redistribution of changes, detected with the aid of the HBK anion.
Tsitologiia 1976 Sep
PMID:[Effect of calcium ions on sorption of phthalocyanin dye by membranes of individual nerve fibers]. 82 34

A case of centronuclear or myotubular myopathy in a 13-year-old boy who was admitted with hypotonia and congenital ptosis is reported. Clinical, electromyographic and pathologic studies are discussed. A review of the electron microscopic features and comparison with out findings is included. Review of the literature disclosed near 50 cases of centronuclear myopathy. The diferential diagnosis is discussed.
Arq Neuropsiquiatr 1977 Sep
PMID:[Myotubular or centronuclear myopathy; report of a case and review of the literature]. 90 Dec 63

Experiments with the guinea pig ileum, trachea, and vas deferens, the rat fundal strip, the rabbit jejunum and aortic strip, and the toad heart indicated that 2-amino-1-p-nitrophenylpropane-1,3-diol, the hydrolytic product of chloramphenicol, inhibited smooth muscles. Its action was direct and not through any mediators. After intravenous administration, the compound produced vasodepression followed by an overshooting rise of blood pressure. Vasodepression was not mediated by adrenergic, cholinergic, or histaminergic mechanisms. Hypertension was a sympathomimetic effect. Muscle relaxant and cardiovascular effects of the compound were similar to those of chloramphenicol, although it had no antibacterial effect.
J Pharm Sci 1977 Sep
PMID:Smooth muscle relaxant properties and vasomotor actions of 2-amino-1-p-nitrophenylpropane-1,3-diol. 90 58

This communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(Q27;Q25)]. Three generations of the patient's family were karyotyped and her mother and brother were found to be balanced translocation carriers. From the patient's clinical examination and from review of 13 similar cases reported in the literature, the following phenotype emerged: constant features were psychomotor retardation, muscle hypotonia at birth, undescended testes in all males and abnormal auricles, typically with a prominent antitragus. Anomalies of kidneys and other structures of the urinary system were present consistently as probably the most characteristic feature of the syndrome. Over 200 structural anomalies of other systems were reported, many of the common to other autosomal chromosomal syndromes.
Hum Genet 1976 Sep 10
PMID:Partial trisomy 4q syndrome: case report and review. 96 97

A previously well infant developed severe muscle weakness and hypotonia at 6 months of age. This was reversed by anticholinesterase medication. However, she had subsequent further weakness and died at 10 months after an acute respiratory arrest. The clinical pattern was that of the 'juvenile' form of myasthenia gravis rather than the 'congenital' forms which have previously been described in early infancy.
Arch Dis Child 1976 Sep
PMID:'Juvenile' myasthenia gravis in early infancy. 99 29

The comparison of nine examples of trisomy for the distal segment of 11q permits definition of a clinical syndrome which includes the following: axial hypotonia with hypertonia of the limbs; an old-looking wrinkled face; a large beaked nose; microretrognathia with malformation of the palate; low-set ears; a prominent anterior helix; a prominent anthelix; a short neck; a narrow chest with nipples set widely apart; micropenis in the boys; congenital heart disease; renal agenesis or malformations of the urinary tract; agenesis of the thoracic girdle; dysplasia of the acetabulum; clubfeet.
Ann Genet 1975 Sep
PMID:[Trisomy 11q. Individualization of a new syndrome]. 108 Sep 82

It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p.
Humangenetik 1975 Sep 10
PMID:Partial trisomy 10p. 117 36

Two patients with a virtually identical physical examination syndrome are reported. Both had severe microbrachycephaly, profound mental retardation and athetoid cerebral palsy. The anomalies include prominence of forehead, hypoplastic midface, mandibular prognathism, apparent midline "cleft" of mandible with absence of lower central incisors, ear and eye anomalies, growth failure, and various similar secondary anomalies due to hypotonia, cerebral palsy and immobilisation. The patients probably represent a "new" MCA/MR syndrome, the etiology of which is still unknown. A genetic cause, i.e., a gene mutation with pleiotropic effects, is suggested. This may involve an autosomal recessive trait, an autosomal dominant new mutation, or an X-linked dominant-hemizygous lethal trait.
Z Kinderheilkd 1975 Sep 11
PMID:Studies of malformation syndromes of man XXXVIII: The BD syndrome. A "new" multiple congenital anomalies/mental retardation syndrome with athetoid cerebral palsy. 117 93

The disease picture of idiopathic orthostatic hypotonia is described from a clinical and histological point of view with reference to a case treated by the present authors. The independent character of this particular ailment may be considered as resulting from the virtually uncontrollable orthostatic decreases in blood pressure in connection with the progressive disorders especially of the motor system. Also, the etiology is not yet fully understood.
Psychiatr Neurol Med Psychol (Leipz) 1975 Sep
PMID:[Idiopathic orthostatic hypotension]. 119 77


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