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)

Hypotonic oesophagography was performed in 149 patients after the intravenous injection of propanthelin bromide (Pro-Banthine). An injection of 0.25-0.50 mug/kg body weight led to hypotonia of the oesophagus in 96% of cases. During hypotonia, it was possible to demonstrate oesophageal varices in 24 out of 27 patients, and small hiatus hernias in 10 out of 23 patients. Conventional examination demonstrated oesophageal varices in only 13 of the 27 cases and hiatus hernias in four out of the 23 cases. Hypotonic oesophagography thus leads to an improvement in the accuracy in the diagnosis of oesophageal varices and small hiatus hernias. Following injections of Pro-Banthine, transient side effects were observed consisting of tachycardia, difficulties in accomodation, reduction in salivary excretion and difficulties in micturition. Pro-Banthine is contra-indicated in the presence of glaucoma, severe cardiac and circulatory diseases and urinary obstruction.
 ...
PMID:[Hypotonic oesophagography using propanthelin bromide (Pro-Banthine) (author's transl)]. 12 97

An infant with karyotype 46,XY,der(8),t(3;8)(q21;p23) is presented. The presence of trisomy 3q21 leads to qter syndrome is suspected on the basis of comparison of the clinical and laboratory findings of this patient with those of cases that have been reported as partial 3q trisomy. The common phenotypic features of this syndrome include growth failure and mental or developmental retardation, hypotonia, persistent lanugo, distorted head, congenital glaucoma, short and upturned nose, prominent maxilla, micrognathia, short, webbed neck, short limbs, retroflexed third and fourth toes, cutaneous syndactyly of the second, third and fourth toes, and elevated galactose-1-phosphate uridyl transferase activity in the red blood cells.
 ...
PMID:A case of trisomy 3q21 leads to qter syndrome. 42 97

The metabolism of ground substance in connective tissue of an 18-year-old boy with oculo-cerebro-renal syndrome was studied. He had characteristic clinical and laboratory findings described by Lowe et al. such as growth retardation, mental deficiency, glaucoma, cataracta, decreased muscle tone, metabolic acidosis, aminoaciduria and osteomalacia. The urinary excretion of acid glycosaminoglycans and of total hydroxyproline were 27 mg/day (as glucuronic acid) and 280 mg/day respectively on admission. Both values decreased to the upper limits of normal level transiently during treatment with alkali and vitamin D2. At that time, an improvement in bone abnormalities, a decrease of serum alkaline phosphatase, and an elevation of serum inorganic phosphate were observed. The therapy prevented him from progressive osteomalacia and cured him of it, but mucopolysacchariduria and hydroxyprolinuria did not disappear. Analytical electrophoresis on cellulose acetate sheets showed that urinary acid glycosaminoglycans were composed of undersulfated chondroitin 4-/6-sulfate and heparan sulfate with a ratio of 6:4, on admission. After oral administration of alkali, the excretion of heparan sulfate decreased and undersulfated chondroitin 4-/6-sulfate was determined as a main component of urinary acid glycosaminoglycans. The clinical and laboratory data in this case suggested that the increased excretion of acid glycosaminoglycans and total hydroxyproline was caused by abnormal metabolism in connective tissues, especially by the bone abnormalities, in this syndrome.
 ...
PMID:Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome. 73 46

General anesthesia in ophthalmological surgery has become a great fashion. However there are still many problems especially in intraocular surgery. The eye with normal intraocular pressure generally needs no special technique. Most of the usual anesthesia produce a slight hypotonia with the exception of Succinylcholine, whose effect is contrary. Unfortunately this is not the case in eyes with pathologically increased intraocular pressure as in the different forms of glaucoma. Eye surgeons and anesthesists therefore look for solutions to this problem which in principle consist in the application of medicaments, which not seldom are rather agressive. The controlled hypotension by ganglion blockers, the curarisation in the state of being awake, the rapid perfusion of solutions with high osmotique effect (isolated or associated) represent such measures. The one has the disadvantage to be applied during so-called subvigile anesthesias where the security that the patient is asleep is rather doubtful; the other has the disadvantage that it requires a rapid perfusion of solutions with highly osmotic effect. It goes without saying that these conditions represent risks especially if one considers that the candidates for this type of intervention very often are senile persons with prearious cardiovascular equilibrium, with insufficient renal function and with insufficient arterial cerebral circulation. These are some of the problems which are to be discussed.
 ...
PMID:[Anesthesia in ophthalmology (author's transl)]. 85 70

A 37 years old woman presented with scleroderma en coup de sabre of the head with chronic homolateral ocular hypertony. Skin disorders appeared in the childhood and extended slowly until the age of 20. Glaucoma, found 5 years earlier, was unimproved by medical treatment; the opposite eye was normal. Two goniotomia in 1974 were uneffective. A trabeculectomy in 1975 was followed by scleral fistula with important ocular hypotonia. A scleral flap was followed by the disappearance of hypotonia with no return to previous hypertony. The connections between scleroderma and glaucoma are discussed; vascular and neurologic mechanisms are suggested. Up to now, glaucoma has been reported in patients with systemic soleroderma and Romberg disease.
 ...
PMID:[Scleroderma en coup de sabre with homolateral chronic glaucoma (author's transl)]. 92 Nov 64

The authors treated 53 patients with uncontrolled glaucoma in silicone oil filled eyes with high intensity focused ultrasound. The silicone oil filled eyes present unusually difficult problems in glaucoma management, since the silicone oil rapidly obstructs filtration openings, and laser techniques have not been effective. The mean pretreatment pressure was 34.2 mmHg. The patients were followed for a mean of 17 months. Seventy-five per cent of ultrasound treated eyes had successful reduction of intraocular pressure to below 20 mmHg with or without concomitant medical treatment at two years after treatment. The complication rate was low in this group of eyes. Five eyes developed hypotonia and three eyes had full thickness scleral perforations but were effectively controlled and developed no other complications during two years of follow-up. This technique appears more effective than cyclo-destructive techniques alone.
 ...
PMID:[Ultrasonic treatment of hypertonia caused by intraocular silicone oil]. 129 8

The oculo-cerebral-renal syndrome of Lowe is an X-linked recessive disorder characterized by severe mental retardation, congenital cataracts, renal tubular dysfunction, growth retardation, hypotonia, glaucoma, and rickets. Recently, it has been found that serum concentrations of the muscle enzymes are elevated, providing evidence that there is primary muscle involvement in this disorder. The renal functional abnormalities that occur have also been further delineated. Renal tubular dysfunction presents within the first year of life, followed by a serum creatinine level that increases with age. Renal failure generally occurs in the fourth decade of life. We report two patients with Lowe's syndrome who presented with new onset of acute renal failure (ARF). Workup of their ARF established the diagnosis of acute tubular necrosis with evidence of rhabdomyolysis in one case. These patients were treated aggressively with dialysis and had subsequent recovery of renal function to their baseline state. We suggest that patients with Lowe's syndrome who present with an acute change in their renal function should be treated early with vigorous hydration therapy. If dialysis is indicated, it should be initiated. Furthermore, these patients should be promptly evaluated for evidence of rhabdomyolysis with alkalinization of the urine if possible.
 ...
PMID:Acute tubular necrosis associated with Lowe's syndrome: possible role of rhabdomyolysis. 141 9

In this paper, we describe a baby male born to healthy non-consanguineous parents presenting at birth with hypotonia and seizures. Additional salient clinical features included the development of glaucoma, the absence of significant facial dysmorphism and the absence of liver enlargement or renal cysts. The patient died at the age of 3 months. At autopsy, liver fibrosis and kidney glomerulosclerosis were noted. Neuropathological findings included pachygyria of the olivary nuclei and cerebellar neuronal heterotopias. There was no evidence for a demyelinating process. Biochemically, the patient was found to have elevated plasma levels of very-long-chain fatty acids (VLCFA) and abnormal bile acid intermediates, whereas other indicators of peroxisomal function (plasmalogen biosynthesis and plasma pipecolic acid) were normal. Catalase staining of a liver biopsy specimen revealed peroxisomes to be present in normal numbers, although some were abnormally large. Trilamellar inclusions typical of a peroxisomal fatty acid oxidation defect were present in macrophages. Indeed, beta-oxidation of the very-long-chain fatty acid hexacosanoic acid (C26:0) was found to be strongly deficient. Fatty acyl-CoA oxidase activity in the patient's liver was normal, however. Furthermore immunocytochemical studies using antibodies against acyl-CoA oxidase, bifunctional protein and peroxisomal thiolase, revealed the normal localization of all three enzyme proteins within the peroxisomes. We suggest that our patient has a selective peroxisomal beta-oxidation defect, a recently identified heterogeneous group of early-onset peroxisomal disorders distinct from the Zellweger syndrome and other generalized peroxisomal disorders.
 ...
PMID:Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation. 148 48

Several childhood multisystem disorders with prominent ophthalmological manifestations have been ascribed to the malfunction of the peroxisome, a subcellular organelle. The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease); 2) those that result from multiple enzyme deficiencies (rhizomelic chondrodysplasia punctata); and 3) those that result from a single enzyme deficiency (X-linked adrenoleukodystrophy, primary hyperoxaluria type 1). Zellweger syndrome, the most lethal of the three peroxisomal biogenesis disorders, causes infantile hypotonia, seizures, and death within the first year. Ophthalmic manifestations include corneal opacification, cataract, glaucoma, pigmentary retinopathy and optic atrophy. Neonatal adrenoleukodystrophy and infantile Refsum's disease appear to be genetically distinct, but clinically, biochemically, and pathologically similar to Zellweger syndrome, although milder. Rhizomelic chondrodysplasia punctata, a peroxisomal disorder which results from at least two peroxisomal enzyme deficiencies, presents at birth with skeletal abnormalities and patients rarely survive past one year of age. The most prominent ocular manifestation consists of bilateral cataracts. X-linked (childhood) adrenoleukodystrophy, results from a deficiency of a single peroxisomal enzyme, presents in the latter part of the first decade with behavioral, cognitive and visual deterioration. The vision loss results from demyelination of the entire visual pathway, but the outer retina is spared. Primary hyperoxaluria type 1 manifests parafoveal subretinal pigment proliferation. Classical Refsum's disease may also be a peroxisomal disorder, but definitive evidence is lacking. Early identification of these disorders, which may depend on recognizing the ophthalmological findings, is critical for prenatal diagnosis, treatment, and genetic counselling.
 ...
PMID:The peroxisome and the eye. 171 72

A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral cataracts, glaucoma, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis. There was also severe epileptic activity (Lennox-Gastaut syndrome). The neuropathological examination revealed a marked cerebellar atrophy and central chromatolysis in the cerebral cortex. These observations do not confirm the hypothesis of dysmyelination as formulated in previous studies. The reported case rather suggests the existence of a dynamic process starting as a still-undefined metabolic abnormality that, in turn, causes various and inconsistent lesions at the microscopic level.
 ...
PMID:Lowe syndrome: clinical and neuropathological studies of an adult case. 207 36


1 2 3 4 5 6 Next >>