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)

Spike discharges of single cerebellar Purkinje cells were recorded continuously with extracellular microelectrodes in unanesthetized curarized rats. The intravenous injection of diphenylhydantoin in doses between 10 and 100 mg kg-1 did not substantially alter the activity of Purkinje cells within 2--3 h. The two benzodiazepines, diazepam and clonazepam, already in low i.v. doses (0.03--0.1 mg kg-1) consistently and reversibly depressed the firing rate. Our results do not support the previously advanced hypothesis that these drugs reduce epileptiform activities by increasing the output from the cerebellar cortex. They rather point to the possibility that a reduced firing rate of cerebellar Purkinje cells mediates at least in part ataxia and muscular hypotonia observed after the drugs.
Naunyn Schmiedebergs Arch Pharmacol 1976 Dec
PMID:The effect of diphenylhydantoin, diazepam and clonazepam on the activity of Purkinje cells in the rat cerebellum. 101 45

A 3-month-old girl was admitted to the hospital because of hypotonia and frequent vomiting. She had severe metabolic acidosis and her liver function was abnormal. Hepatomegaly and rapidly progressive liver failure developed, and she died at 4 months of age. Two half-siblings from a different mother had died in infancy of an undiagnosed myopathy. The liver was fatty and hepatocytes were filled with large and small lipid droplets. Other tissues were morphologically normal. The respiratory chain enzymes containing subunits encoded by mitochondrial DNA were markedly decreased in liver, partially decreased in muscle, but normal in other tissues. Southern blot analysis showed 90% depletion of mitochondrial DNA in liver, 53% depletion in muscle, and normal amounts in other tissues. This is the second case of fatal infantile liver failure associated with mitochondrial DNA depletion. This pathogenetic mechanism should be considered in infants with multiple respiratory chain defects and variable tissue expression.
J Pediatr 1992 Dec
PMID:Fatal infantile liver failure associated with mitochondrial DNA depletion. 144 52

Three Down syndrome patients for whom karyotypic analysis showed a "mirror" (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region--namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B--by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation.
Am J Hum Genet 1992 Dec
PMID:No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21. 146 8

We describe the maternal and neonatal complications of pregnancy in two patients with myotonic dystrophy. The disease leads to an increased spontaneous abortion rate, hydramnios, prolonged first and second stages of labour, retained placenta, postpartum haemorrhages and anaesthetic sensitivity in the mother. The neonatal problems are caused by the congenital form of the disease. The major clinical features of congenital myotonic dystrophy are bilateral facial weakness, hypotonia, neonatal distress, feeding difficulties, talipes, tent-shaped mouth, mental retardation and delayed motor development. Relatives of a known myotonic dystrophy patient should be advised to let themselves be examined for this disease. If the disease is diagnosed, information should be given regarding possibilities for prenatal diagnosis. Pregnancy in myotonic dystrophy patients should be monitored by a gynaecologist. Labour has to take place in a hospital with intensive care facilities for mother and child.
Ned Tijdschr Geneeskd 1992 Dec 12
PMID:[Dystrophia myotonica and pregnancy]. 146 72

Electromyographic and mechanographic investigations in patients with muscular hypotonia, which is, for instance, a side-effect after stereotactic treatment of tremor syndromes, permit the presumption that in this sensomotor open-loop situation the decreased muscular resistance to stretching during isometric contraction (initial stiffness) is caused by changes of muscular innervation pattern. Probably, the innervation pattern during tonic activity is changed by a shift of a more tonic motoneurone behaviour to motoneurone activities with predominantly phasic characteristics. In 17 controls and 4 patients with muscular hypotonia caused by stereotactic lesions of VIM area (treatment of tremor syndromes) the EMG of right and left side forearm flexors (especially the activity of the M. biceps brachii) was investigated by a sophisticated, topographically oriented 16-channel-surface-EMG-technique ("EMG-Mapping") during slight isometric contraction. EMG-Maps of forearm flexors (especially of M. biceps brachii) in patients with centrally evoked muscular hypotonia demonstrate that in these open-loop conditions the motor control is changed. For this the reason could be a shift of the activated motor units from a predominantly static to a more phasic functional behaviour. The latest results on muscular activation processes in cats support this presumption.
EEG EMG Z Elektroenzephalogr Elektromyogr Verwandte Geb 1992 Dec
PMID:[Control of isometric muscle contraction in muscle hypotonia of central origin: EMG mapping analysis]. 148 21

The acrocallosal syndrome (ACS) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and limb anomalies. It was first described by Schinzel in 1979 and followed by 25 other cases reported in the literature. Neurodevelopmental aspects include hypotonia of prenatal onset, seizures and moderate to severe mental retardation. The condition is probably of autosomal recessive inheritance but is closely resembles the Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominantly inherited disorder mapped to the short arm of chromosome seven. We reviewed the literature for aspects of associated cystic malformations in addition to agenesis of the corpus callosum and report on another patient with ACS. Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limb malformations.
Neuropediatrics 1992 Dec
PMID:Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. 149 47

A 2830 g full-term baby, born by breech delivery, exhibited weak crying and sucking and severe hypotonia of the extremities after birth. Magnetic resonance imaging (MRI) showed marked thinning of the cervical cord at the level of C4 and C5. This lesion evolved into focal syringomyelia by the fourth month after birth. In this patient, MRI was useful in detecting the initial spinal cord injury, which appeared as marked thinning, and the subsequent syringomyelia as well. The role of birth trauma in cervical spinal cord injuries is discussed.
Neuropediatrics 1992 Dec
PMID:Cervical cord birth injury and subsequent development of syringomyelia: a case report. 149 53

A case of Prader-Willi syndrome who later developed hepatoblastoma is reported. Prader-Willi syndrome was suspected because of hypotonia, hypopigmentation, and undescended testes when he was a newborn infant. The diagnosis was confirmed by chromosome analysis, which showed 46XY del(15)(q11, q13). When he was 1 year 4 months old, a liver tumor and high serum AFP were found. At operation a large tumor arising from the caudate lobe was found and the tumor was totally resected. After completion of the hepatectomy, he developed circulatory collapse of unknown cause and died shortly after the operation. Histopathologic examination revealed that the tumor was composed of two components, well differentiated cells and poorly differentiated cells. The well differentiated part did not dominate the poorly differentiated part, so it was diagnosed as poorly differentiated hepatoblastoma. This is the first reported case of Prader-Willi syndrome with a pediatric malignant tumor.
Acta Paediatr Jpn 1991 Dec
PMID:Prader-Willi syndrome with del(15)(q11,q13) associated with hepatoblastoma. 166 44

The clinical manifestations and psychomotor development of five patients with mucolipidosis IV (MLIV) from three Ashkenazi-Jewish families are reported. The presenting symptoms were hypotonia, developmental delay, corneal clouding, and puffy eyelids. Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLIV.
Am J Med Genet 1991 Dec 01
PMID:Mucolipidosis type IV: clinical manifestations and natural history. 178 85

The patient, a 25-year-old male, was admitted with a 2-year history of double vision and recurrent suboccipital headache. Neurological findings on admission revealed nystagmus, double vision in the far field, bilateral abducense palsy, weakness in the bilateral legs, hypalgesia and hypesthesia under the L5 level, gait disturbance and hypotonia of the anal sphincter. Plain skull X-ray showed marked digital impression and disappearance of the posterior clinoid process and the dorsum sella. Myelography disclosed a filling defect dorsal to upper and midcervical cord. Intraventricular injection of metrizamide outline cystic dilatation and caudal migration of the fourth ventricle. Occipital craniectomy and laminectomy from C1 to C6 was performed. Operative findings showed thickened arachnoid membranes and cystic expansion of the fourth ventricle lying dorsal to the cervical cord. Caudal portion of the ventricle was removed, and V-P shunt was placed into the fourth ventricle to maintain decompression of the cystic part of the fourth ventricle. This patient is considered to represent a case of cystic dilatation (or ventricular diverticulum) of the fourth ventricle in Arnold-Chiari malformation. We stress that posterior decompression with V-P shunting procedure is recommended as the treatment of choice for such Arnold-Chiari type II malformation.
No To Shinkei 1991 Dec
PMID:[Cystic dilatation of the fourth ventricle--case report]. 179 25


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