Two rare cases of aplastic anemia after prolonged ingestion of indomethacin are described. One patient recovered spontaneously within several weeks following discontinuation of the drug while the second one died. The aplastic anemia may be related to the inhibitory effect of indomethacin on prostaglandins and cyclic nucleotides which have a ...

A 69-year-old man complaining of syncope was found to have pernicious anemia and orthostatic hypotension due to autonomic neuropathy. Following vitamin B12 replacement with cyanocobalamin, the blood pressure became normal. To our knowledge, this is the first reported case of neurogenic orthostatic hypotension as the initial feature of vitamin B12 ...

Trace metal deficiencies are now a well-documented complication of total parenteral nutrition (TPN). Zinc deficiency may present in a variety of ways including acrodermatitis skin lesions, impaired immunity, poor growth or impaired wound healing, and mental disturbances. Copper deficiency presents a more uniform picture of hematologic abnormalities, usually anemia with ...

A partial deficiency of pyruvate decarboxylase (PDC) was demonstrated in a child with hyperlactatemia and progressive ataxia, bulbar paresis, ophthalmoplegia, and polyneuropathy. Subacute necrotizing encephalomyelopathy (SNE) was found at necropsy. The association of SNE and PDC deficiency has been reported rarely, but a review of the diverse metabolic defects associated ...

A case of autoimmune hemolytic anemia (AIHA) associated with an ovarian dermoid cyst is presented. Early recognition and specific therapy for this entity is stressed for optimal results since conventional forms of therapy of AIHA are ineffectual. Unusual features of the case are discussed. The literature is reviewed and possible ...

From June 1975 through June 1979, acute hemolytic anemia developed in 11 horses from 7 New York farms. Of the 7 horses that died, 6 had methemoglobinemia. In the 4 horses that recovered, methemoglobinemia was not observed. but Heinz body formation was seen in 3 of the 4. On 2 ...

A clinical description of three cases of beta-galactosidase deficiency is presented. Two cases are classical for infant type GM1-gangliosidosis, the third is characterised by dysostosis multiplex with growth retardation and of normal intelligence. Laboratory data revealed mucopolysaccharides in the urine of all described patients in a high level of normal ...

Benign intracranial hypertension occurred in four young women taking tetracycline for acne; two were also taking vitamin A. In a fifth case a 14-year-old boy developed papilloedema after taking a short course of tetracycline for bronchitis. All symptoms disappeared soon after stopping the drugs, though in two cases the papilloedema ...

Allozymic variation for the terrestrial isopod, A. vulgare, is low when compared to that reported for most invertebrates, with the average individual being heterozygous at 3.4 percent of its loci. However, this level of heterozygosity is comparable to that reported in various decapods. A significant heterozygote deficiency occurred in local ...

All barium meal examinations performed, in patients aged greater than 65 years, in one year in one Health District are reviewed. There were 39 cases of duodenal diverticula. One case of osteomalacia and folate deficiency was discovered and this patient had evidence of small bowel bacterial overgrowth. In the remaining ...

A case of mannosidosis with high residual activity of fibroblast acid mannosidase is described. The mutant enzyme was thermostable and has an almost normal Km value. The patient had mild clinical manifestations, but excretion of mannose-rich oligosaccharides was very high. This case of mannosidosis is compared with those reported in ...

The tetracyclines are a group of widely used antibiotics that have been incriminated in causing adverse hematologic problems, including hemolytic anemia. This paper presents the third documented case of acquired hemolytic anemia and the first case of nonimmune-mediated hemolysis resulting from tetracycline hydrochloride. A review of the literature reveals the ...

Carbonic anhydrase inhibitors used in the treatment of glaucoma are rarely associated with blood dyscrasias. Several case reports of aplastic anemia with use of acetazolamide, and two cases with use of methazolamide, have appeared in the literature. This report documents two cases of aplastic anemia, at least one of which ...

Keratotic scabies (KS) (Norwegian scabies) is a rare variant of Sarcoptes scabeii infestation and is characterized by hyperkeratosis and crusting and by the presence of millions of mites in the horny layer of the skin. KS may be associated with underlying diseases, e.g. immune deficiency states and lymphoreticular disorders, or ...

A case of severe methemoglobinemia and hemolytic anemia following ingestion of 5.6 gm of phenazopyridine with suicidal intent by a 16-year-old woman was successfully treated with intravenous methylene blue. Methemoglobinemia was suspected in this patient because of her intense central cyanosis, chocolate-colored blood, and minimal dyspnea. The patient's peripheral blood ...

Acrodermatitis enteropathica, a heritable disease of zinc deficiency, was formerly amenable to treatment only with dihaloquinolinol drugs. A few cases of optic atrophy were reported in surviving patients and were proposed as examples of ocular drug toxicity, principally because of the association between iodochlorhydroxyquin and subacute myelo-optic neuropathy (SMON) in ...

Tc-99m colloid and In-111 transferrin were used in a semiquantitative scintigraphic study of bone-marrow activity in 76 patients with aplastic anemia, the majority of which were severe cases. The results are compared with other known prognostic parameters and with a predictive index formulated from a prior multi-parametric analysis performed in ...

An analytic review of the literature on HMO performance reveals common limitations that make available evidence inconclusive, at best. Most studies have been more descriptive than analytic; others are characterized by serious deficiencies in methodology. Although several observations about the effects of HMOs appear frequently, the causes are not known. ...

Fibroblasts of four patients affected with mucosulfatidosis (multiple sulfatase deficiency, Austin variant of metachromatic leukodystrophy) were assayed for activities of the five sulfatases known to degrade mucopolysaccharides. These were iduronide 2-sulfate sulfatase, sulfamidase, N-acetyl-galactosamine 6-sulfate sulfatase, arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase), and N-acetylglucosamine 6-sulfate sulfatase. The activities of these five ...

Congenital indifference to pain with anhydrosis (CIPA) is a well-defined entity among a group of sensory deficiency syndromes. Children with this genetic disease are insensitive to pain and temperature and do not sweat and suffer from psychomotor retardation. Self-inflicted trauma may be severe and lead to insoluble orthopedic problems. To ...

A 63-years-old male with pernicious anemia had been treated for 20 years with weekly injections of iron-dextran and cyanocobalamine. Ophthalmological examination revealed the ophthalmoscopic picture of a tapetoretinal degeneration, reduced visual acuity and narrow visual fields. ERG and dark-adaptation test were normal. Hematological examination including liver and bone marrow biopsies ...

A girl of remarkably short stature, referred for investigation with the diagnosis of gonadal dysgenesis and the finding of a male karyotype, proved to be deficient in growth hormone and gonadotrophin secretion, and was treated with growth and sex hormones. It was concluded that this case demonstrates an apparently casual ...

A 57-year-old woman with diabetes mellitus, hypothyroidism, idiopathic thrombocytopenic purpura, myasthenia gravis, systemic lupus erythematosus, atopy, and basal cell cancer of the skin developed a severe Coombs'-positive autoimmune hemolytic anemia which was resistant to treatment with large doses of azathioprine, cytoxan, and prednisone. One year after transcervical thymectomy the hemolytic ...

A case of hyperornithinemia and gyrate atrophy of choroid and retina has been observed in a 3-year and 9-month-old girl. She presented also mild mental retardation, delayed language development and speech defects. The restriction of protein intake to a minimum of 0.8 g/kg/day induced a significant reduction of plasma ornithine ...

In Japan after 1969, 11 cases of aplastic anemia following radiotherapy for malignant disease were detected. The population at risk in irradiated patients was estimated at 674, 664 man-years. The expected cases of aplastic anemia in this population were calculated as 10.1. There is no statistically significant difference between the ...

A 64-year-old male developed severe anaemia during procainamide therapy. At the same time granulocytopenia was found. Discontinuation of procainamide led to complete recovery. Severe anaemia due to the use of procainamide is not well known. The available data indicate a maturation block of the erythropoiesis as the possible cause of ...

Classic hemophilia (hemophilia A. Factor VIII deficiency, antihemophilic factor deficiency) and polycythemia vera were diagnosed in a patient who presented for management of his dental disease. This case report summarizes the history, laboratory findings, and clinical course and discusses the various diagnostic considerations in the management of two rare disorders. ...

A 12-year-old boy being examined for vague chest pains was found to be suffering from acid maltase deficiency. Unlike previously reported cases in which vacuolization was most commonly noted in type I fibers, type II fibers were selectively involved in this patient and were atrophic Type I fibers were spared, ...

We investigated three black women who had anemia and skin hyperpigmentation. They were found to have pernicious anemia (PA) and normal adrenal functions. To our knowledge, this is the first report of skin hyperpigmentation of PA in black patients. This report reemphasizes the similarities in clinical features of PA and ...

A case of chronic hypervitaminosis A is reported in a 57-year-old woman who took vitamin preparations for alopecia. Liver biopsy of the patient showed both an increase in the number and size of fat-storing cells on light microscopy and rapidly fading green autofluorescence of vitamin A. Electron microscopy confirmed the ...

A case is reported of the hemolytic uremic syndrome (HUS) in a woman taking oral contraceptives. She was treated with heparin, dipyridamole and hemodialysis; and after more than three months, her urinary output rose above 500 ml; and six months after the onset of anuria, dialysis treatment was stopped. This ...

A case of hypertriglyceridemia in association with homozygous beta-thalassemia in an 11-month-old female infant is reported. The hypertriglyceridemia proved to be secondary, as it was indicated by clinical features as well as laboratory findings. Attention is called to a possible alteration of lipid metabolism in association with thalassemia major.

A case report of an outstanding college football halfback with partial factor XI deficiency, recurrent ecchymosis, and myositis ossificans is reviewed. The association of multiple areas of myositis ossificans and partial clotting-factor deficiency has not been noted in the past. The importance of considering this diagnosis in participants in contact ...

Six juvenile and adult patients with progressive neurological diseases and beta-galactosidase deficiency were reported. Any diseases known to date were denied. These cases together with ten case reports in the literature were reviewed and were classified into three groups from clinical and biochemical points. Group 1 patients were characterized by ...

Six patients in a family with a history of hereditary angioedema reported swelling of the extremities and recurrent abdominal pain occurring spontaneously or after trauma. Attacks of oedema involving the airways, the greatest danger with this disorder, were present only in one case. This autosomal dominant disease is due to ...

The first reported case of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase deficiency in a black is presented. The recent literature is reviewed, with emphasis on the frequency of multiple inherited RBC defects in this ethnic group. Despite a coexisting hemoglobinopathy or enzyme deficiency, HS can be diagnosed in most cases ...

1. The transcobalamins from normal serum were obtained in two fractions. One contained transcobalamin I and transcobalamin III: the other contained transcobalamin II. The forms of vitamin B12 in the two fractions were then examined. 2. Methylcobalamin and adenosylcobalamin were found in both fractions. Hydroxocobalamin was found in the fraction ...

Three patients are reported in whom autoimmune hemolytic anemia developed during the course of ulcerative colitis. A review of the literature yielded 11 additional cases, and the clinical, immunologic, and therapeutic characteristics are summarized. The results of steroid therapy and splenectomy are similar to those for idiopathic autoimmune hemolytic anemia. ...

The case described demonstrates the development of elliptical stomatocytosis in a neonate and the appearance of elliptical stomatocytes in her mother whose blood film, before delivery, showed elliptocytosis. Further investigations on both individuals indicated a mild haemolytic anaemia. To our knowledge this is the second reported case of elliptical stomatocytosis.

Congenital hemolytic anemia associated with pyrimidine 5'-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it ...

The association of an autoimmune disease with a monoclonal immunoglobulin is not exceptional and most probably results from a dysfunction of the immunologic apparatus. This study describes two patients with monoclonal immunoglobulin A (IgA) and M (IgM) gammopathy, respectively, in whom pernicious anemia and finally gastric carcinoma developed. One patient ...

The molecular heterogeneity of congenital pyruvate kinase deficiencies becomes apparent from the results of immunological studies. In one case, a quantitative defect is plausible; in the second case, the most likely hypothesis is a molecular alteration of the binding site for the activator, with preservation of the antigenic specificity; in ...

Several cases of isolated C2 deficiency in man have been reported in the medical literature. The earliest cases did not seem to be associated with known diseases or syndromes; more recently, reports of C2 deficiency associated with systemic lupus erythematosus; anaphylactoid purpura, recurrent infections, and dermatomyositis have appeared. We report ...

Utilizing a bacterial-agar overlay technic incorporating the methionine-requiring bacterium Leukonostoc mesenteroides, little or no bacterial growth was seen surrounding the megaloblasts and proerythroblasts of eight patients who had severe untreated pernicious anemia. Similarly, scant bacterial growth was observed in five cases of chronic erythremic myelosis (DiGuglielmo syndrome). Heavy bacterial growth, ...

The presence of iron in articular cartilage was investigated in five human and two canine cases of factor VIII-deficiency hemophilic arthropathy. The lesions were mild in three cases. Advanced destruction of the cartilage was present in four cases, in one of which sufficient cartilage was preserved to permit recognition of ...

Three new cases of chronic vitamin A intoxication are reported and a review of the literature with special reference to chronic intoxication in adolescents and adults is presented. The most prominent features are intracranial hypertension, skin and hair deviations, pain in the musculoskeletal system, and fatigue. Intracranial hypertension occurs in ...

CHA, a rare failure of erythrogenesis in infancy and childhood, has been re-examined on the basis of a review of 42 cases of our own and 133 others. Although the disease may have its onset late in gestation, severe anemia usually is not found at birth but, in 75% of ...

Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, Italy. Two groups of subjects with hyperbilirubinaemia of non-immunological origin were examined: (a) 302 newborn babies of Sardinian extraction (on cord blood) and (b) 201 newborn babies of south Italian ancestry (on ...

The first reported case of hemoglobin S and C Harlem in an individual is described. The patient, a 35-yr-old female, had numerous crises during adolescence and early adulthood, but these occurred more infrequently as she grew older. Chemical evidence is presented for the characterization of both variant hemoglobins. The clinical ...

Three adults with alpha 1-antitrypsin deficiency are described. In two of the cases the deficiency was genetically determined (cases 1 and 2), and each demonstrated unusual features of the disease. The liver in case 1 (homozygous) showed cholangiolar hyperplasia which has been recorded only once before. Case 2 (heterozygous) had ...