Search Results
Results 401 - 450 of 553
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Yip J - - 1992
Hereditary angioedema is a rare disorder which is associated with an inherited deficiency of the inhibitor of the activated first component of complement. Genetic transmission occurs in an autosomal dominant manner. Affected patients are heterozygotes, and their deficiency is incomplete, many of them having up to 20% of the normal ...
AltintaƟ B - - 1992
A four-month-old boy with beta-ketothiolase deficiency is described in this report. Presenting symptoms and signs were vomiting, irritability and acidotic respiration. Laboratory investigations revealed hyperglycinemia, metabolic acidosis and ketosis. Subsequent urinary GC-MS analysis of the patient's urine sample showed the typical pattern of beta-ketothiolase deficiency. Our experience with this case ...
Arroyo H A - - 1991
The authors report an extremely rare case of monozygotic triplets with globoid cell leukodystrophy (Krabbe disease). Born to healthy, non-related, heterozygous parents, all three girls presented with typical signs of beta-galactocerebrosidase deficiency before one year of age and died within the first 41 months of life. The literature is briefly ...
Yoshida Y - - 1991
We report a case of HAM/TSP presenting with short stature, mental retardation, skin eruptions, uterine and ovarian hypogenesis and nephropathy. Skin erythema was noted since from the age of three years old and spasticity of lower extremities from elementary school age. Serum calcium level showed 4.1 mEq/l. Recombinant human PTH ...
Fairley C K - - 1991
Invasive aspergillosis (IA) is a rare infection in patients with the Acquired Immune Deficiency Syndrome (AIDS). We report the first Australian cases of histologically and microbiologically proven IA diagnosed antemortem in AIDS patients. We also describe the first case of laryngeal involvement and the unusual case of a pneumothorax due ...
Kaikov Y - - 1991
A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively ...
Doxey D L - - 1991
An attempt has been made to assess the diagnostic value of clinical features seen at initial examination of horses with grass sickness, colic cases and cases submitted as possible grass sickness but diagnosed subsequently as some other condition. There appears to be no single pathognomonic sign for grass sickness. A ...
Orme S M - - 1991
Isolated ACTH deficiency is a rare disorder. We report four cases of this disease which presented to the Department of Endocrinology at Leeds General Infirmary over a one-year period. The diagnostic clinical and biochemical features of each case are discussed and the pertinent literature is reviewed. The clinical investigations vary ...
Rush B M - - 1991
A case of amebic anemia in a 53-year-old Louisianian prompted us to report it, in order to create awareness of such cases occurring in the absence of foreign travel. If one is cognizant of amebiasis it will be included in the differential diagnosis when it is proper to do so.
Juangbhanit C - - 1991
An 11-year-old boy who presented with anemia, premature grey hair, hyperpigmented skin, paresthesia, recurrent aphthous ulcers and epistaxis was eventually proved to be a case of vitamin B12 deficiency. Due to the paucity of this deficiency, the diagnosis may easily be delayed and overlooked resulting in unfavorable consequences. Therapeutic response ...
Monafo V - - 1991
No further reports of associated X-linked hypogammaglobulinemia and isolated growth hormone deficiency have appeared in the literature since the description of the first affected family, two brothers and two maternal uncles, by Fleisher et al. in 1980. We report here a 13-year-old boy with X-linked agammaglobulinemia and isolated growth hormone ...
Simioni P - - 1991
Congenital protein C deficiency is described as associated with recurrent thrombotic manifestations. The proband, a fourteen-year-old female, has a history of severe and frequent thrombotic disease, moreover, she presents congenital multiple hemangiomas. Family history was positive for protein C deficiency since the mother of the proposita is also affected and ...
Shindo K - - 1991
Crusted scabies, an unusual clinical variant of human scabies mite infestation, is usually reported in cases of gross debility, mental deficiency, or immunosuppression. We report here the occurrence of crusted scabies in a 40-year-old man with acquired selective IgA deficiency suspected to be caused by long-term medication with phenytoin for ...
Maloisel F - - 1991
Cunninghamella bertholletiae is a fungus of the Zygomycetes class, Mucorales order. Only very few cases of disseminated infection have been reported. We observed a new case in a 19 years old man with severe aplastic anemia, due to pulmonary primoinfection and hematologic dissemination. This aplastic anemia failed to respond first ...
Magli A - - 1991
The authors describe a case of Parinaud's syndrome in a 14-year-old boy with delayed puberty. The neurological examination and the neuroradiological work-up excluded the presence of cerebral pathological processes except for a pituitary microadenoma. As the sole presence of the microadenoma cannot justify gonadotropin deficiency, the authors in this case ...
Rana K S - - 1991
Depending upon the transferrin saturation value, 214 serum samples were divided into three groups--iron overloaded (46 cases), iron deficient (61 cases) and normal (107 cases)--and tested with a micromethod based upon detection of unsaturated iron binding capacity. All the samples with iron overload could be distinguished from the other two ...
Lugo-Somolinos A - - 1990
Several reports have appeared in the literature suggesting that Vitamin D metabolites and analogues may be useful for the treatment of psoriasis. This is a report of an open study in which the efficacy of 1, Alpha-25-dihydroxyvitamin D (Calcitriol) is evaluated in cases of moderate to severe psoriasis. Study of ...
Broun E R - - 1990
Two patients with sideroblastic anemia secondary to zinc-induced copper deficiency absorbed excess zinc secondary to oral ingestion. The source of excess zinc was a zinc supplement in one case; in the other, ingested coins. In each case, the sideroblastic anemia was corrected promptly after removal of the source of excess ...
Gulley M L - - 1990
We report the observation of a high neutrophil myeloperoxidase activity (MPXI) in patients with megaloblastic anemia. MPXI is rapidly measured as part of an automated complete blood count (Technicon H*1, Technicon Instruments Corp, Tarrytown NY). We describe the range of MPXI levels in healthy and patient populations and in 10 ...
Sansone R - - 1990
All the papers of the Italian authors on Fanconi's anemia are carefully listed. In the meantime some data of an epidemiological inquiry on the Italian unpublished cases are notified. They are as follows: i) the frequency of the disease is higher than it could be suspected; ii) the regional distribution ...
Cunha U G - - 1990
A total of 110 unselected demented outpatients aged 60 and over (mean age: 76.2 years), 69 women and 41 men, were prospectively investigated. A potentially reversible cause of dementia was found in 26 patients (normal pressure hydrocephalus 2, cerebral tumor 1, hyperthyroidism 2, hypothyroidism 4, vitamin B12 deficiency 13, pseudodementia ...
Poker I D - - 1990
Factor XI deficiency is a relatively common hereditary coagulation disorder manifested generally as diffuse oozing from a surgical site. Dentists may be the first to discover this deficiency and other coagulopathies after simple tooth extraction. A case is reported which illustrates a typical presentation of this disorder. The need for ...
Eid N S - - 1990
Much has been learned about vitamin A physiology in the last 50 years, yet few changes have been made in therapy. Unfamiliarity with vitamin A bioavailability and distribution may inadvertently result in toxicity. A literature search demonstrates that hypovitaminosis A has rarely been reported in patients with cystic fibrosis, and ...
Itabashi H - - 1990
Relapsing Polychondritis (RPC) is a rare disorder of unknown etiology which affects mucopolysaccharide-rich tissues such as cartilage. A 64-year-old man developed auricular and nasal chondritis with complaints of arthralgia of the hands and cervical pain. The auricular biopsy established the diagnosis of RPC. The hematological data revealed normocytic, slightly hypochromic ...
Mehta B C - - 1989
Iron loading anaemias are characterized by anaemia, high serum iron, transferrin saturation and ferritin values, and haemosiderin deposits in parenchymal cells and reticuloendothelial tissue with or without organ dysfunction. Sideroblastic anaemias and congenital dyserythropoietic anaemias (CDA) are important types of iron loading anaemias. Two cases of sideroblastic anaemia and five ...
Riggs S - - 1989
Abnormal vaginal bleeding in perimenarchal females is usually attributed to immaturity of the hypothalmic/pituitary/gonadal axis (i.e., dysfunctional uterine bleeding). Iron deficiency as a cause for abnormal bleeding has been described, but is poorly understood. This case report describes a 13-year-old Hispanic female with iron deficiency anemia as a presumptive cause ...
Murakami T - - 1989
Extramedullary hematopoiesis (EMH) is observed in people suffering from severe anemia of prolonged duration and appears to be a compensatory mechanism for disturbed medullary hematopoiesis. The hemoglobinopathies (such as thalassemia, spherocytosis, and sickle cell disease), neoplastic diseases such as leukemia and lymphoma, and others, including myelofibrosis and osteitis fibrosa cystica, ...
Abou-Taleb S - - 1989
This study was carried on 60 male patients, 20 have simple intestinal mansoniasis, 20 have simple urinary bilharziasis and 20 have hepatosplenic mansoniasis. Latent iron deficiency anaemia, defined as those having normal Hb content (greater than 13 g/dl) and low serum ferritin (less than 15 ng/mL). Such latent anaemia was ...
Acosta R - - 1989
The present study describes a case of a 38-year-old nurse with asthma and probable sensitivity to sulfites. A double-blind challenge with sulfite and placebo was performed, pulmonary function tests were measured along with plasma levels of sulfites. A deficiency in sulfite-oxidase is suggested as the trigger mechanism of bronchospasm.
Green P - - 1989
Cases of secondary hemochromatosis caused by excessive iron ingestion are very rare. In most instances there are associated factors known to cause iron overload, such as anemia, alcoholism or the presence of the hemochromatosis allele. We report a patient who developed secondary hemochromatosis, apparently due only to excessive iron ingestion.
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 ...
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