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)

Clinical investigations of infants hospitalized with botulism demonstrate a remarkable uniformity of complaints and physical findings. Constipation precedes a course of progressive weakness and cranial nerve dysfunction. Examination reveals hypotonia, hyporeflexia, and a variable pattern of involvement of the motor cranial nerves. Initial laboratory investigations should include electrodiagnostic tests, because findings of an incremental response to rapid, repetitive nerve stimulation and of brief, small-amplitude motor units on electromyography are virtually pathognomonic of botulism in the infant. Differential diagnosis includes disorders that may produce generalized depression of the central nervous system, such as septicemia, meningitis, metabolic disturbances, and intoxications. Specific involvement of the neuromuscular system includes acute polyneuropathies, diseases of the anterior horn cell, congenital myopathies or muscular dystrophy, and neonatal myasthenia gravis. Recent studies have expanded the clinical spectrum of infant botulism to include some cases of sudden infant death syndrome and otherwise nonspecific constipation.
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PMID:Differential diagnosis of infant botulism. 23 67

Fifty-eight children with laryngotracheobronchitis (LTB) were studied. Many were malnourished, or in the post-measles state, or had some lower respiratory tract or cardiac involvement. In these patients, factors helpful in assessing the need for relief of airway obstruction by tracheal intubation have been evaluated. A set of indications for intubation, which includes clinical and arterial blood gas features of LTB is suggested. Cognisance of complications of disease, where present, has also been taken. If cyanosis or muscular hypotonia or unawareness is present, intubation is urgently needed. When two of the following occur together, the need for intubation has arisen: (a) pulse rate greater than 170/min and respiratory rate greater than 55/min; (b) paCO2 greater than 37 mmHg; (c) paO2 less than 50 mmHg; and (d) a complication (cardiac failure or severe lower respiratory tract infection).
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PMID:Indications for intubation in laryngotracheobronchitis in black children. 23 52

An infant previously reported to have psychomotor retardation and multiple congenital anomalies including hypotonia, failure to thrive, peculiar facies, low-set ears, micrognathia, and cryptorchidism in association with monosomy due to a D/E (13-15/17-18) translocation has been reexamined. Further cytogenetic studies, using fluorescent techniques, indicate the translocation involves chromosomes 15 and 17. Only two other patients with partial monosomy due to grossly similar D/E translocations have been reported. On reexamination, the translocation in one has recently been found to involve chromosomes 15 and 18 and that in the other has not been further defined.
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PMID:Further identification of a D/E translocation. 24 Feb 70

A 9 month old boy with acute lymphoblastic leukaemia developed signs compatible with an extrapyramidal lesion (rough tremor of the skeletal muscles, more pronounced on the left side, with hypotonia and reduced cutaneous reflexes). This problem started 4 days after the second weekly course of chemotherapy with Vincristine (1.5 mg/m2) and Adriamycin (25 mg/m2) and lasted with varying intensity until death 4 weeks later. Toxicity of either drug (or both) to the central nervous system was invoked as a likely explanation and Vincristine was considered to be more likely condidate for that effect.
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PMID:A Parkinson-like syndrome as side effect of chemotherapy with vincristine and adriamycin in a child with acute leukaemia. 29 57

In 77,9 +/- 3,5% of the children with an active phase of rheumatic fever, developing with a prevalent lesion of the heart and joints, symptoms of animal and vegetative nervous system lesions were found. The neurological symptoms correlated with changes of the brain bioelectrical activity. The authors point to some dynamics of symptoms under the influence of anti-rheumatic treatment. Normalization of the brain bioelectrical activity, a regress of symptoms of the vegetative nervous system and muscular hypotonia are somewhat behind the clinical recovery. The existence of pathological activity on the EEG in children after an arrest of clinical symptoms of rheumatic fever may indicate to the possible subsequent development of chorea, the diencephalic syndrome, cerebrasthenic syndrome in these children.
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PMID:[Diagnosis of formes frustes of a rheumatic lesion of the nervous system in children]. 30 54

The outflow system was studied in seven human traumatised eyes in which there was a hyphaema (injury-enucleation periods 7h to 35 days). Extracellular lysis of red cells was present, but lysed red cells were not found in the outer part of the meshwork. Exogenous macrophages and endogenous endothelial cells contained red cells and their breakdown products and evidence was obtained to indicate intracellular haemolysis as the cells passed through the meshwork. Penetration of the lining endothelium of Schlemm's canal by red cells and macrophages was a rare observation and this was attributed to the presence of a co-existing hypotonia.
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PMID:Further observations on the process of haemophagocytosis in the human outflow system. 31 Feb 63

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.
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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.
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PMID:[Effect of nootropil and contvykal on the structural changes in the central nervous system in hypoxic brain edema]. 31 39

The mosaicism 46,XX/46,XX,del(10)(p13)/47,XX, +r/47,XX,del(10)(p13), +r was found in the lymphocytes and the fibroblasts of a patient with the following : profound mental retardation; craniofacial dysmorphism with frontal bossing, fine eyebrows, a large hypoplastic nasal bridge, prognathism of the upper jaw, thick lips; a long and thin neck; congenital heart disease; skeletal malformations, with club feet; and hypotonia and lax ligaments. These malformations, compatible with the trisomy 10p syndrome, suggest that the supernumerary ring chromosome was composed of 10p material. An increase of HK1 and GOT1 activities was found. This is in favour of a partial trisomy of chromosome 10. The relative frequencies of the clones constituting the mosaic vary from tissue to tissue and with time.
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PMID:[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)]. 31 77

In a newborn with multiple malformations, deletion 4q32.1 leads to 4qter was observed after BrdU incorporation and staining with acridine orange. The patient's phenotype and that of five children monosomic for 4qter reported in the literature define a syndrome with a high rate of mortality due to major respiratory difficulties, laryngeal hypotonia and oedema, and complex congenital heart malformations.
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PMID:[De novo monosomy 4q32.1 leads to 4qter in a newborn with multiple malformations (author's transl)]. 31 83


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