Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.16.3.1 (ceruloplasmin)
 5,074 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To examine the ability of plasma to prevent haemolysis caused by mechanical trauma and by hypotonicity, in-vitro experiments were carried out. Human red blood cells (RBC) were agitated with glass beads at 37 degrees C for 18 h in isotonic tris-buffered saline (TBS) or with additions of test substances to TBS. RBC were incubated for 18 h at 37 degrees C in a stationary water-bath to test effects of hypotonic solutions. Release of haemoglobin was quantitated by measuring optical density of supernates at 412 nm in a spectrophotometer. Agitation of RBC with glass beads in TBS resulted in release of about 30% of haemoglobin, and this haemolysis was inhibited by autologous plasma. Components of plasma that contributed to protection against mechanical haemolysis were albumin, a supernatant of plasma after heating to 100 degrees C that was albumin-free, and a heat-stable extract of fresh frozen plasma (FFP), whereas little or no protection was provided by gamma-globulin, haptoglobin, ceruloplasmin or alpha-2-macroglobulin. Relative viscosity of solutions containing plasma or dextran correlated poorly with protection against mechanical haemolysis. Hypotonic solutions of plasma and addition of the extract of FFP to TBS caused reductions in rates of haemolysis when compared to corresponding osmolalities of solutions of TBS. These results, which showed protective effects of plasma and plasma components against mechanical and hypotonic haemolysis, suggest that a deficiency of protective factors in plasma of patients could contribute to the development of haemolytic anaemia.
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PMID:Plasma components protect erythrocytes against experimental haemolysis caused by mechanical trauma and by hypotonicity. 157 75

Copper can induce acute and chronic intoxications in humans. Copper in tap water has caused a series of severe systemic diseases in Germany in recent years (copper induced liver cirrhosis). Besides cirrhosis, another type of disease with predominantly gastrointestinal symptoms has occurred which likewise appeared to be induced by copper in tap water. - In a retrospective investigation we looked for additional indications and proof that chronic copper poisoning has been the cause of the observed gastrointestinal diseases. All patients suffering from this type of disease had copper plumbing in their houses. - The patients (children and adults) suffered from nausea, vomiting, colic, and diarrhoea. In the group of infants, one refused formula milk (prepared with tap water) and the others suffered from persistent restlessness, unexplainable screaming (especially at night) and/or long lasting diaper rash. - We accept the diagnosis of chronic copper intoxication as the cause of the gastrointestinal symptoms when at least one of the following criteria were fulfilled: 1. first manifestation, remission and relapse of the disease depend on intake and a non-intake of water containing copper, respectively. 2. hypercupric state of the patients (i.e. pathological high concentrations of the non-ceruloplasmin-bound copper in serum and/or elevated copper levels in urine) 3. signs of systemic copper intoxication in the same patient 4. signs of systemic copper intoxication or hypercupric states in members of the patient s family or in his neighbourhood (non-relatives) - We found that the disease can even be caused by copper concentrations below the allowed concentration given by the German Guidelines for Drinking Water (Trinkwasserverordnung). - The data prove that copper in drinking water can cause gastrointestinal diseases and not only the better known systemic diseases (i.e. copper induced liver cirrhosis). Copper poisoning must be considered as a possible cause of chronic gastrointestinal diseases in those countries in which copper plumbing is common.
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PMID:Chronic poisoning by copper in tap water: I. Copper intoxications with predominantly gastointestinal symptoms. 1057 26

An autopsy case with clinically and molecular genetically diagnosed Huntington's disease (HD) accompanied with minimal non-specific neuropathological features was reported. When the patient was 45 years old, he had faulty memory, mood swing, personality change and agitation. Neurological and psychiatric examinations revealed choreoathetoid movements in limbs and trunk, generalized hyperreflexia and mental deterioration. However, cerebellar ataxia and muscle rigidity were not disclosed. Neuroimaging study did not show a definite atrophy of heads of caudate nuclei. Neuroacanthocytosis and Wilson's disease were ruled out by the peripheral blood examination and serum Cu and ceruloplasmin examination. At the age of 55 he died of pneumonia. Post-mortem examination revealed minimal non-specific neuropathological features for HD (Vonsattel's grade 0), that is, no visible fibrillary gliosis in the striatum, and few neuronal loss and only proliferation of astrocytes (astrocytosis) in the striatum. Molecular-genetic study the patient's brain tissues and his youngest son's blood was performed. These studies revealed 40 CAG repeats in the patient, 56 CAG repeats in his youngest son. These results suggest they may be HD. Vonsattel et al. [ 1998] insist that grade 0 comprises 1% of all HD brains, and grade 1 comprises 4% of all HD brains. But we could not find any reports in which the clinical and neuropathological features were described in detail on the cases with clinically and molecular genetically diagnosed HD without specific pathological findings. Therefore, we present in detail the clinical and neuropathological features of such case.
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PMID:An autopsy case with clinically and molecular genetically diagnosed Huntington's disease with only minimal non-specific neuropathological findings. 1074 90

Wilson's disease is an inherited autosomal-recessive disorder of biliary copper excretion. It is characterized by hepatic, neurological and ophthalmic manifestations related to the accumulation of copper in the liver, the lenticular nuclei of brain and cornea. The authors present the case of a 29-year-old female with primarily depression manifestation of Wilson's disease. The patient also reported agitation, difficulties with concentration, slowdown of speech, and stuttering. In magnetic resonance imaging, in putamen, the globus pallidus, claustrum, the heads of caudate nucleus and thalamus areas demonstrated the increased signal in T2. A high copper content was obtained in daily urine collection and reduced level in serum. Similarly, ceruloplasmin level was decreased. Despite the antidepressant treatment with venlafaxine, no improvement was observed. Within a week of psychomotor slowdown, symptoms such as Parkinson's syndrome appeared. Due to the rapid progression of the disease symptoms, the patient was referred for further treatment at a specialistic center. After six month, despite the treatment, the progress of disease was so advanced that patient was transferred to the hospice. Two weeks later patient died. Wilson's disease might be consider in differential diagnosis of depression in young patients, especially if they present additional extrapyramidal symptoms and unspecific changes in magnetic resonance imaging.
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PMID:Primarily depression manifestation of Wilson's disease-Case report. 3189 89