Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four infants with Lues connata, three with the early stage of the disease (patients 1-3), are reported. Diagnosis was made after exclusion of other diseases. Initially an infectious disease was expected, since anemia, leucocytosis, thrombocytopenia, hepatomegaly and/or splenomegaly and a bad condition were found. In two patients bone structure was abnormal. Elevated serum concentrations of liver enzymes (ALAT, ASAT) were the indication for liver biopsy in one patient, in whom an accompanying hepatitis was diagnosed. Treatment was performed with penicillin, no JARISCH-HERXHEIMER reaction was observed. The Lues tests were negative during pregnancy but a displacental transfer of pathogenic agents could be assumed. Patient 4 was diagnosed at 9 months of age. Infection of the mother probably occurred in the last 6 weeks of pregnancy. It can not be decided if the baby has a connatal or acquired Lues. The titer decrease of the CMT-test after the end of the penicillin therapy is a marker for a successful treatment. If treatment was started at 2 years of age a total clinical recovery can be expected. The case reports demonstrate that negative Lues test during pregnancy do not exclude Lues connata in newborns. The Lues diagnosis should be considered if an infectious disease in a newborn can not be diagnosed. A general Lues serodiagnostic test is recommended in all newborns before they leave the obstetrics department.
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PMID:[Congenital syphilis]. 130 79

Changes of the density, MCV, MCHC, RNA-concentration and the activities of the enzyme G6PD and ASAT due to maturation and aging of rbc were investigated by repeated density gradient separation of these cells during a bleeding anaemia of the rabbit. The mean density of reticulocytes and erythrocytes decreases during the course of the anaemia by 14 and 10 g/l respectively. The difference between the density of both cell types increases from 3 to 6 to 12 g/l during the anaemia. Maturation and aging of rbc are characterized by an increase of the MCHC from 200 to 350 g/l cells and the decrease of MCV by 10-25%. The RNA concentration and the ASAT activity show an almost parallel behaviour in cells of different densities during the anaemia. Remarkable differences are observed between the ASAT activity and the G6PD activity: The G6PD activity decreases mainly during the aging process and almost not during the maturation, while the ASAT activity falls constantly during maturation and aging. As observed in former studies we could distinguish and isolate 4 characteristic populations of reticulocytes in certain density fractions during the anaemia: Normal young reticulocytes, line 2 reticulocytes, megaloreticulocytes and reticulocytes of high density.
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PMID:Behaviour of cell physiological and biochemical indicators of maturation and aging of red blood cells in density fractionated red blood cells during a bleeding anaemia of the rabbit. 243 73

Peroral application of iron salts in various types of anemia was previously considered atoxic. The increased use of iron has, however, led to an increasing number of poisoning in children, taking iron tablets for candy. There have only been reported a few number of spontaneous intoxications in animals, but experimentally it has been possible to produce fatal intoxications in various kinds of animal species. The clinical findings are quite similar in the various animals, starting with vomiting, bloody diarrhoea and metabolic acidosis. If the intoxication is severe, shock and coma may develop, and death occurs quite soon. The histological findings are also similar in the various animals, varying from erosions of the tops of the villi to necrosis of the mucosal membrane of the jejunum. Degenerative changes in the liver as well as in the kidney are seen in several cases. The mentioned case was a horse given about 475 g ferro fumarate over a period of 5 days. The horse developed the classic clinical picture and death occurred on day 7. The diagnosis was confirmed by very high levels of iron in the liver, kidney and serum. The blood values of the enzymes ASAT and gamma GT were extremely high as a sign of a severe damage of the liver.
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PMID:Poisoning in animals due to oral application of iron. With description of a case in a horse. 723 49

X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the XLSA/A gene. This gene, ABC7, is an ortholog of the yeast ATM1 gene whose product localizes to the mitochondrial inner membrane and is involved in iron homeostasis. The full-length ABC7 cDNA was cloned and the entire coding region screened for mutations in a kindred in which five male members manifested XLSA/A. An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. The mutation was shown to segregate with the disease in the family and was not detected in at least 600 chromosomes of general population controls. Introduction of the corresponding mutation into the Saccharomyces cerevisiae ATM1 gene resulted in a partial loss of function of the yeast Atm1 protein. In addition, the human wild-type ABC7 protein was able to complement ATM1 deletion in yeast. These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome.
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PMID:Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). 1019 63

A 66 year-old obese woman with arthrosis, self-medicated with oral nimesulide, 200 mg daily. After 6 weeks she developed nausea, jaundice and dark urine. Two weeks later she had recurrent hematemesis and was hospitalized. Besides obesity and anemia her physical examination was unremarkable. An upper GI endoscopy revealed 3 acute gastric ulcers and a 4th one in the pyloric channel. Abdominal ultrasonogram showed a slightly enlarged liver with diffuse reduction in ecogenicity; the gallbladder and biliary tract were normal. Blood tests demonstrated a conjugated hyperbilirubinemia (maximal total value: 18.4 mg/dl), ALAT 960 U/l, ASAT 850 U/l, GGT 420 U/l, alkaline phosphatases mildly elevated, pro-time 49% and albumin 2.7 mg/dl. Serum markers for hepatitis A, B and C viruses were negative. ANA, AMA, anti-SmA, were negative. Ceruloplasmin was normal. A liver biopsy showed bridging necrosis and other signs of acute toxic liver damage. Gastric ulcers healed after conventional treatment and hepatitis subsided after 2 months leaving no signs of chronic liver damage. The diagnosis of toxic hepatitis due to nimesulide was supported by the time-course of drug usage, sex, age, absence of other causes of liver disease, a compatible liver biopsy and the improvement after drug withdrawal. Peptic ulcers or toxic hepatitis have been previously described as independent adverse reactions in patients taking nimesulide or other NSAIDs but their simultaneous occurrence in a single patient is a unique event that deserves to be reported.
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PMID:[Bleeding gastric ulcers and acute hepatitis: 2 simultaneous adverse reactions due to nimesulide in a case]. 1122 44

Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram showed anemia (hemoglobin: 4.5 g/dL), frankly hypochronic microcytic and a regenerated (mean corpuscular hemoglobin concentration: 26 g/dL, mean cell volume: 53 fl, reticulocytes: 10 x 10(9)/L) with red cells morphologic disorders in smears (anisopoikylocytosis) without attack of the other lineages; white blood cells: 11 x 10(9)/L (neutrophils: 64% and lymphocytes: 35%); platelets: 350 x 10(9)/L. Examination of bone marrow showed an important erythroid hyperplasia (about 69%) with dyserythropoiesis. Perls stain revealed intense siderosis with 90% of ringed sideroblasts and a large number of siderocytes. Exploration of ALAS2 and ABC7 genes on the DNA of the infant was not found abnormalities. Treatment with pyridoxine corrects moderately the anemia. By the way, we proposed to remind that iron deficiency, inflammatory syndrome and thalassemia are the common microcytic anemia. However, it's mandatory to explore other causes if diagnosis is not solved.
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PMID:[Hereditary sideroblastic anemia: a rare diagnosis]. 1521 71

The subchronic toxicity and toxicokinetics of a novel proton pump inhibitor, pymeprazole (LZB), were investigated in beagle dogs by daily oral administration for 13 consecutive weeks. Three test groups received doses of 30, 100 and 300 mg/kg/day of LZB. Rabeprazole of 60 mg/kg/day was used as positive control. The 13-week repeated oral doses of LZB resulted in objective signs of mild gastrointestinal disturbance for high-dose group animals. One individual dog of high-dose group was found to be lethargy and astasia at the last month of administration; for hematology, mild anemia was observed at high-dose females; for clinical chemistry, higher cholest, trigly and gastrin were observed at high-dose females, higher ASAT, ALAT, cholesterol, triglyceride and gastrin at high-dose males were also observed; for histopathology, the primary effects of LZB were related to gastric mucosa of high-dose group seen by H and E or Grimelius stain. Impairment of surface epithelium was observed by SEM. The treat-related effects basically were reversible for a 4-week drug-free period. As for positive control group, 13-week oral administration of rabeprazole resulted in more severe toxicity than high-dose group of LZB although much lower dose was employed. The accumulation of LZB after 13-week oral administration was not notable at the toxic dose of 300 mg/kg/day. The toxic dose was considered to be 100mg/kg/day and the no-observed-adverse-effect level (NOAEL) to be 30 mg/kg/day, which is much higher than other PPIs. The toxicological target could be stomach, liver, hematological system and nervous system.
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PMID:Subchronic toxicity and toxicokinetics of LZB, a new proton pump inhibitor, after 13-week repeated oral administration in dogs. 1803 54