Search Results
Results 351 - 400 of 473
< 1 2 3 4 5 6 7 8 9 10 >
Girino M - - 1989
A 32-year-old Sicilian man had marked erythrocytosis (Hb = 23.0 g/dl, RBC = 10.5 x 10(12)/l, MCV = 71 fl, Hct = 84-92%, a 4.5 times increase in total erythropoies) and saphenous system varices, without other clinical abnormalities. By Hb electrophoresis, an abnormal Hb migrating slightly more anodally than Hb ...
Morgan B P - - 1989
Immunological investigation of a patient presenting with candidiasis and toxoplasmosis revealed a combined deficiency of C6 and C7. Deficiency of C6 was total, but small amounts (less than 1 microgram/ml) of apparently normal C7 were present in the serum. All family members (three sibs and both parents) were heterozygous for ...
Shaw L - - 1989
Two case reports are presented of boys, who were found to have pituitary and thyroid dysfunction respectively. This was treated in childhood with replacement therapy. These deficiences are known to affect normal skeletal and dental development, but the cases described also showed marked effects on the dental tissues themselves with ...
Konagaya M - - 1989
A case of partial sphingomylinase deficiency with supranuclear vertical ophthalmoplegia, perceptive hearing loss and renal failure is reported. Extensive studies revealed sea-blue histiocytosis in bone marrow, delayed peripheral nerve conduction velocity, selective IgG and IgM deficiency, mild hepatosplenomegaly and testicular hypotrophy and retention. Although renal failure, perceptive deafness, immunoglobulin deficiency ...
Schmitt R J - - 1988
Glossitis and glossodynia are commonly seen by the dental practitioner. The awareness that these symptoms in conjunction with other oral signs indicate pernicious anemia is important for the clinician. Correct diagnosis can be made, and neurological complications avoided. Two case reports are presented and typical oral and systemic features of ...
Willem P - - 1988
Three white patients, two with myelofibrosis and one with refractory anemia, presented with a t(1;7). The clinical and cytogenetic findings are discussed in the context of 45 cases already published. Rather than the specific association of t(1;7) with a particular hematologic disorder, a review of the literature strongly suggests correlation ...
Ephros H D - - 1988
Iron deficiency anemia may be associated with dietary practices such as amylophagia, which is seen frequently in women of certain ethnic origins. Starch eating may be a direct or indirect cause or symptom of iron deficiency anemia. Orofacial symptoms of amylophagia and iron deficiency anemia are discussed. A case in ...
Schulz P E - - 1988
Biotinidase deficiency leads to a biotin-deficient state, with cardinal symptoms of ataxia, alopecia, and skin rash presenting in infancy. Previous reports of head CTs in patients with biotinidase deficiency did not note basal ganglia calcifications. We report the first case of biotinidase deficiency with basal ganglia calcifications. There were no ...
Williams C K - - 1988
Five cases of haemolytic anaemia occurring in male Nigerians following the ingestion of spiced barbecued meat (suya) are described. Although suya is a popular food item in various parts of Nigeria, all five patients described in this report had consumed a special brand, called red suya, purchased from vendors at ...
Ogden G R - - 1988
A case of dyskeratosis congenita in a 10-year-old white boy is reported. The triad of oral leukoplakia, nail dystrophy, and skin pigmentation was present. Other associated anomalies included dysphagia and varied immunoglobulin levels, although there was no evidence of anemia, pancytopenia, and ocular involvement. Since it may be associated with ...
Moraes C T - - 1988
It was reported before that cells of the trypanosomatid Leptomonas samueli incubated with [14C]glucose synthesized dolichol-P-P-linked Man9GlcNAc2 as the main and largest derivative. It is now reported that this protozoan is deficient in dolichol-P-Glc synthesis as judged from results obtained in a cell-free assay. We have structurally characterized several endo-beta-N-acetylglucosaminidase ...
Damir H A - - 1988
Clinical cases of both Zn and Cu deficiencies are reported in a cattle farm in Kordofan Region of the Sudan after drought. The animals showed general weakness, stunted growth, infertility, parakeratosis and achromotrichia. There was macrocytic hypochromic anaemia and low Cu and Zn concentrations in sera. The condition was more ...
Morgan-Hughes J A - - 1988
In this paper selected data from 43 patients with histologically defined mitochondrial myopathies who have been investigated biochemically as previously described are presented. The defect was localized to NADH-ubiquinone oxidoreductase (complex I) in 22 cases and to ubiquinol-cytochrome c oxidoreductase (complex III) in a further 10. Two patients had defects ...
Dawod S T - - 1988
Findings are presented on a Pakistani family in Doha, Qatar with hemoglobin D-Los Angeles (alpha 2 beta 3 121 (glutamine----glycine) and thalassemia trait. The propositus, a child, has hemoglobin D-beta(0) thalassemia, and suffers from moderately severe hemolytic anemia. The father has beta-thalassemia trait, and the mother is heterozygous for hemoglobin ...
- - 1987
The incidence of aplastic anemia was estimated in a 4-year study conducted in Israel and seven areas in Europe. Strict definition criteria were used, and all data and bone marrow specimens were reviewed by a panel of experienced hematologists. Complete ascertainment of cases was attempted by establishing a telephone network ...
Krauss J S - - 1987
The glycated hemoglobin (GHb) is lowered by hemolytic anemia. The cation-exchange HbA1 has been shown to be lowered by hereditary spherocytosis (HS). The HbA1, however, can be increased by elevations of fetal hemoglobin (HbF). The affinity GHb, a parameter related to, but not identical with, the HbA1, and unaffected by ...
Jones E - - 1987
We describe a 66-year-old women with CREST variant of scleroderma who developed autoimmune hemolytic anemia responsive to prednisone and demonstrated a deficiency of IgA and the C4 component of complement. This association of clinical, immunologic and genetic findings has not previously been reported. The literature relating to these findings is ...
Tucker G F GF - - 1987
A previously undescribed deficiency of the posterior cricoid at the midline, wherein the mucosa overlying this deficiency is intact, is described. Clinically this presents as a variety of subglottic stenoses wherein the narrowing is primarily in the transverse subglottic diameter; the symptoms are, therefore, those of airway obstruction not laryngeal ...
Morris G E - - 1987
A case of hereditary angioneurotic oedema, which was only diagnosed after presentation to several hospital departments, is reported. It was then discovered that the mother of the patient had the same condition but that, unusually, it appeared to have been in remission for more than 20 years. This disease, due ...
Young I D - - 1987
A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated ...
Ransome O J - - 1987
A newborn baby with acute respiratory distress caused by tension haemothorax is described. An abnormal clotting profile indicated that the haemothorax was possibly due to a clotting deficiency. Ultrasonography was useful in establishing that the cause of the radio-opacity was fluid. The baby's problem was rapidly resolved by drainage and ...
Hawass N E - - 1987
This is the first report of three cases of adult geophagia in Saudi Arabia, two with a history of eating mud, and the third of eating pebbles. The presentation in these patients were of abdominal pains, with the radiographs showing very dense opacities within the intestine, especially the colon. These ...
Berger M - - 1987
Mild-to-moderate thrombocytopenia has been reported as an occasional finding in patients with iron deficiency. The present case describes a multiparous woman who presented with increased menorrhagia, severe anemia (3.0 g/dl) and thrombocytopenia (9,000 platelets/mm3). Her bone marrow examination showed iron deficiency, megakaryocytopenia, and erythroid hypoplasia but no other evidence of ...
Friedman C I - - 1987
A woman with autoimmune oophoritis was found to have luteal phase progesterone levels throughout a six-month period of amenorrhea. The common presentation of amenorrhea or metrorrhagia, despite the presence of a corpus luteum, in women with autoimmune oophoritis might result from this chronic progesterone production. A clinical picture consistent with ...
Wilson S C - - 1987
Incomplete masculinization due to a deficiency of 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) was investigated in siblings aged 4 years (Case 1) and 12 years (Case 2). Diagnosis was based on increased ratios of androstenedione (A) to testosterone (T) in blood, and impaired reduction of A to T by 17 beta-HSD ...
Matthews S J - - 1986
Two cases of vitamin D deficiency rickets in cerebral palsied children are presented. The problem of diagnosis and possible etiological factors are discussed. This report highlights a problem that is often not recognized in South Africa, particularly because of the abundant sunshine and, therefore, the rarity of vitamin D deficiency ...
Self K G - - 1986
The diagnosis and treatment of anemia in medical inpatients were studied. Anemia was detected from the admitting complete blood cell count, the medical charts were perused for management of anemia by the physicians, and the cases of anemia were classified by the investigators, using the complete blood cell count and ...
Poelmann A M - - 1986
The case-history of a pregnant woman with a life-threatening thrombocytopenia, due to folic acid deficiency, caused by an extremely low dietary intake is described. As folic acid deficiency manifests itself in a variety of ways, its clinical features are not always easily recognized. Timely recognition is important because of the ...
Jones F T - - 1986
Twenty samples were collected before and after pelleting a 454-kg-lot of feed and assayed for vitamin A. Vitamin A assay levels were reduced 6.5% by pelleting at 80 C. The value reported here is one-fifth the value reported in 1958 and 30% lower than the value recently reported.
Davila D G - - 1986
We have described a patient with thymoma, hypogammaglobulinemia, pernicious anemia, and malignant schwannoma. Review of the literature yielded only one other case of the triad of thymoma, hypogammaglobulinemia, and pernicious anemia. We propose that autoimmunity was the common etiology for the coexistence of thymoma, hypogammaglobulinemia, and pernicious anemia in our ...
Castagliuolo P P - - 1986
Five male military recruits were studied for evidence of immunologic deficiencies. Four had recovered recently from a first-episode meningococcal meningitis and one presented with recurrent meningococcemia. A selective decrease in IgG and IgA was found in one of the first-episode patients and a selective IgG2 subclass deficiency in the recurrent ...
Olver J - - 1986
The case is described of a 39-year-old man with previously undiagnosed chronic schizophrenia and with bilateral keratomalacia secondary to his bizarre diet. He presented with a perforation of the right cornea which required an emergency penetrating keratoplasty. The difficulties of clinical management of a patient with an overt psychosis and ...
Park B K - - 1986
The case histories of two patients exposed to the novel anticoagulants brodifacoum and difenacoum are reported. Abnormal vitamin K1 metabolism, as indicated by elevated vitamin K1 2,3-epoxide plasma concentrations after i.v. administration of vitamin K1, could be detected for more than 18 months after exposure to the anticoagulants. There was ...
Carlson D L - - 1986
Sports anemia has been referred to as an anemic or borderline anemic state in physically active individuals, particularly athletes. This paper is a review of literature on sports anemia, including whom it may affect and its effect on performance, and its diagnosis. In general, sports anemia has been found to ...
Bowling F G - - 1986
An infant with a deficiency of the enzyme uridine diphosphate galactose-4-epimerase was detected during galactosaemia screening of the Queensland newborn population. No case of epimerase deficiency has been reported previously in Australia and the incidence in our population is unknown. A deficiency of this enzyme is usually quite benign although ...
Miller N - - 1986
We report on a newly diagnosed family with hereditary antithrombin III deficiency, with thromboembolic complications in the propositus. Both the propositus and his asymptomatic sister had decreased plasma levels of antithrombin III antigen and activity (28-52% of normal with good agreement between functional and immunologic assays). The propositus developed deep ...
Oates C E - - 1986
A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, and ataxia. Partial hexosaminidase A deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms ...
Horne S L - - 1986
In a community survey of 953 adults we identified 40 who reported having had psoriasis. Eight of these cases were subsequently documented from physicians' records. alpha 1-Antitrypsin (alpha 1-AT) phenotyping identified 35 MZ individuals, 4 (11.4%) of whom reported psoriasis. Among the 918 non-MZ individuals 36 (3.9%) reported psoriasis, yielding ...
Aubourg P - - 1986
Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa. The clinical course was rapidly progressive in six cases and more protracted in three others. Biological signs of adrenal insufficiency were present in five cases. CT scan showed a ...
Condom E - - 1985
A case of adrenal myelolipoma, which to our knowledge is the first case to be associated with 17-hydroxylase deficiency, is reported. This rare, benign lesion is known to occur in association with other endocrinopathies. Discussion focuses on the possible role of continued stimulation by corticotropin and/or steroids as pathogenic factors. ...
Hopkins J E - - 1985
We describe two female patients aged 31 and 62 y who developed severe aplastic anaemia following the use of hair dye containing para-toluenediamine. One received a bone marrow transplant but died after developing graft versus host disease and severe opportunistic infection. The second responded to treatment with methylprednisolone, oxymetholone and ...
Undevia J V - - 1985
Incidence of haemoglobin variants and G-6-PD deficiency among 1385 males belonging to 12 endogamous Dhangar castes of Maharashtra, India, have been reported. Of the 12 castes studied 11 lacked the allele for G-6-PD deficiency; 2.7% of the Thellaris were found to be deficient. Haemoglobin Hb-D trait is found in 2 ...
Ueda K - - 1985
Hemolytic anemia following postnatally acquired rubella first was reported by Sato et al. in 1977. Thirteen cases of hemolytic anemia (including two cases of hemolytic uremic syndrome) following postnatally acquired rubella infection reported in a nationwide epidemic of rubella in Japan in 1975-1977 are reviewed in this article, and another ...
Drummond J F - - 1985
This report describes the clinical and histologic features of a case of megaloblastic anemia, resulting from a gastric bypass operation, in which oral symptoms were the first significant finding. Although this case appears to be the first of its type reported in the literature, the potential for future cases is ...
Barbeau A - - 1984
We have measured in leukocytes the following lysosomal enzymes in 11 Friedreich disease cases, 11 "atypical" recessive ataxias, 13 neurological controls and 16 normal controls: hexosaminidase A and B; beta-galactosidase and neuraminidase (labile and cold stable, or A and B). The lysosomal enzyme deficiencies known to produce certain forms of ...
- - 1984
In this retrospective investigation into the possible causes of aplastic anemia, the charts of 360 patients with primary or secondary aplastic anemia were analyzed for clinical history, proof of diagnosis, possible etiology, and prognostic criteria. During the period of the study, the proportion of cases of aplastic anemia due to ...
Lever E G - - 1984
Four cases of auto-immune Addison's disease are reported in association with hyperprolactinaemia. Two of the females had galactorrhoea. In three cases complete resolution of hyperprolactinaemia occurred with corticosteroid replacement, but it was only partial in the fourth. We suggest that hyperprolactinaemia was due to cortisol deficiency operating directly or indirectly ...
Trautlein J J - - 1984
Two hundred consecutive cases brought to the attention of a malpractice insurer by evidence of expected legal action were reviewed. Of these cases, 132 (66%) were attributed primarily to misdiagnosis, and 87 of these would have satisfied admission criteria. The most common error was grossly deficient examination relating to the ...
Hiramatsu M - - 1984
The case of a 3 year-old boy with congenital nephrotic syndrome is reported, in whom decreased LCAT activity and hypothyroidism were also present. Renal biopsy confirmed a diffuse proliferative glomerulonephritis with a large number of foam cells in the capillary lumen of the glomerulus and the interstitium, which stained positively ...
Asanuma K - - 1984
This paper concerns with two autopsied cases of siblings who died from cerebral disturbances. In these patients hyperammonemia developed in the neonatal phase due to carbamyl phosphate synthetase I (CPS I) deficiency. The patient in Case 1 was admitted 2 days after birth because of oliguria and vomiting. Hyperammonemia developed ...
< 1 2 3 4 5 6 7 8 9 10 >