Search Results
Results 451 - 473 of 473
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Joki P - - 1977
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 ...
Suzuki Y - - 1977
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 ...
Molina C - - 1977
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 ...
Rubins J - - 1977
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 ...
MacDonald C M - - 1977
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 ...
Shashaty G G - - 1977
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. ...
Harrison K L - - 1976
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.
Burnier E - - 1976
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 ...
Ben-Bassat I - - 1976
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 ...
Garreau H - - 1976
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 ...
Douglass M C - - 1976
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 ...
Kass L - - 1976
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, ...
Hough A J - - 1976
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 ...
Lombaert A - - 1976
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 ...
Diamond L K - - 1976
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 ...
Sansone G - - 1975
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 ...
Moo-Penn W - - 1975
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 ...
Sweeney E C - - 1975
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 ...
Said A - - 1975
Haematological as well as biochemical parameters assessing anaemia associating protein energy malnutrition PEM were estimated. Data revealed that controls studied have a relatively lower Hb, Ht, and R.B.C.S. count than European standards. Hypochromic anaemia was predominant in 83.3% of moderate Kwashiorkor being normocytic in 50% and microcytic in 33.3%. In ...
Saary M - - 1975
The case histories and blood pictures of two patients who had cardiac lesions, septicaemia, and renal failure and terminally developed a leucoerythroblastic anaemia with megloblastic features associated with multinucleate erythroblasts, are described. Though folate deficiency may have made a minor contribution to the blood abnormalities, it is considered that some ...
Weinstein L - - 1975
A case of hemolytic disease secondary to anti-Fya in a neonate requiring exchange transfusion is presented. A review of the literature reveals 18 previous cases, with 32 per cent requiring exchange transfusion and a 16 per Fya-b- or Fya-b+ blood can be obtained for exchange transfusion if indicated.
Jones, K.
Initial reports of patients with laminin α2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic white matter hypodensity on cerebral magnetic resonance imaging. We report a series of ...
JACOBS A - - 1960
The histological features of the buccal mucosa have been examined in 50 cases of iron-deficiency anaemia, 14 cases of megaloblastic anaemia, and 50 normal subjects. Differences between the anaemic and normal groups have been found and in some anaemic patients striking morphological changes have been seen. These might be due ...
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