ABSTRACT
We present 2 patients with Bernard-Soulier syndrome from two different families. The parents of one of the patients were found to have had common ancestors in the 17th century. The platelet membrane content of glycoprotein (GP)Ib was measured in the patients and their first-degree relatives with an ELISA technique based on monoclonal antibodies. Both patients had very low levels of GPIb. In one of the families the heterozygotes had reduced expression of GPIb but in the other the obligate heterozygotes had normal values, suggesting that the molecular pathology differs between the two families. In both patients, bleeding time was shortened by infusion of DDAVP (1-deamino-8-D-arginine vasopressin), although it was not completely normalised. DDAVP may be of some therapeutic value in cases of Bernard-Soulier syndrome.
Subject(s)
Bernard-Soulier Syndrome/drug therapy , Deamino Arginine Vasopressin/pharmacology , Adult , Aged , Bernard-Soulier Syndrome/genetics , Bleeding Time , Factor VIII/analysis , Female , Humans , Male , Pedigree , Platelet Adhesiveness/drug effects , Platelet Count/drug effects , Platelet Membrane Glycoproteins/analysis , von Willebrand Factor/analysisSubject(s)
Melanoma/diagnosis , Uveal Neoplasms/diagnosis , Humans , Melanoma/therapy , Prognosis , Uveal Neoplasms/therapyABSTRACT
Sixty-four persons with M-components in serum were detected in a health survey of 6995 subjects in 1964. After 20 years, data could be obtained on all 64. The 45 who had died included two cases of myeloma and one of malignant lymphoma. One of the myeloma cases had started as chronic lymphatic leukemia. Three of the 19 persons alive had an increase in the size of the M-component and depression of the background immunoglobulin, but they could not be diagnosed as myeloma cases. One had a rather large but not increasing M-component and an excess of light chains. She could be a third case of myeloma in this series.
Subject(s)
Immunoglobulin Fragments/analysis , Paraproteinemias/blood , Aged , Female , Follow-Up Studies , Humans , Male , Multiple Myeloma/blood , Multiple Myeloma/mortality , Paraproteinemias/mortality , Prognosis , SwedenABSTRACT
HLA-A, B, C and DR typing was performed in healthy IgA deficient donors and in IgA deficient patients with recurrent respiratory tract infections. In healthy donors, a strong association with HLA B8 and DR3 was observed. In the patient group however, no statistically significant association with these antigens could be found. In contrast, an increased frequency of HLA B40 was noted. The preference for HLA B8/DR3 in healthy donors could not be attributed to higher levels of serum immunoglobulins since no major differences in the concentrations of IgM, IgG or the IgG subclasses were seen between the two groups.
Subject(s)
Dysgammaglobulinemia/immunology , HLA Antigens/immunology , Histocompatibility Antigens Class II/immunology , IgA Deficiency , Respiratory Tract Infections/immunology , HLA-DR Antigens , HumansABSTRACT
Analysis of IgA deficient sera revealed impaired hemolysis of sensitized sheep erythrocytes when tested by a hemolysis in gel (HIG) assay developed for detection of complement deficiencies. All sera were normal in a test for the alternative pathway. The impaired hemolysis was not related to complement aberrations but was caused by antibodies to rabbit IgM, demonstrated in 14 of 21 IgA deficient sera, by use of HIG technique and by agglutination. The presence of these antibodies was not related to age, sex or disease. One serum was further examined and the antibodies were shown to be of IgG class.
Subject(s)
Agammaglobulinemia/immunology , Antibodies, Anti-Idiotypic/analysis , IgA Deficiency , Immunoglobulin M/immunology , Adult , Aged , Animals , Binding, Competitive , Child , Complement Pathway, Alternative , Complement System Proteins/deficiency , Female , Hemolytic Plaque Technique , Humans , Male , Middle Aged , RabbitsSubject(s)
Dysgammaglobulinemia/immunology , IgA Deficiency , IgG Deficiency , Adolescent , Adult , Child , Child, Preschool , Humans , InfantSubject(s)
Eye/drug effects , Intraocular Pressure/drug effects , Parasympatholytics/adverse effects , Accommodation, Ocular/drug effects , Administration, Oral , Adult , Atropine/adverse effects , Benzilates/adverse effects , Clinical Trials as Topic , Double-Blind Method , Female , Humans , Male , Pupil/drug effects , Pyrimidines/adverse effects , Pyrrolidines/adverse effectsABSTRACT
One cynomolgus and three vervet monkeys were treated topicall twice daily in one eye with 63 microgram of echothiophate iodide and 750 microgram of atropine sulfate. The opposite eyes were treated with echothiophate alone. The eyes treated with echothiophate alone all developed posterior and/or anterior subcapsular cataracts within 26 to 66 days. The echothiophate plus atropine-treated cynomolgus eye developed a cataracts of much delayed onset and lesser severity compared to its echothiophate-only-treated fellow. None of the echothiophate plus atropine-treated vervet eyes developed cataracts during the 121 (two eyes) or 231 (one eye) days of treatment. After 121 days of echothiophate plus atropine treatment, two vervet eyes were switched to echothiophate alone. Both eyes developed unequivocal posterior and anterior subcapsular lens opacities, one within 51 and one within 71 days after the switch. We conclude that atropine inhibits echothiophate cataracto-genesis in vervet and cynomolgus monkeys.
Subject(s)
Atropine/pharmacology , Cataract/chemically induced , Cataract/prevention & control , Echothiophate Iodide/antagonists & inhibitors , Administration, Topical , Animals , Atropine/administration & dosage , Atropine/therapeutic use , Chlorocebus aethiops , Female , Haplorhini , Macaca fascicularisABSTRACT
Sixteen eyes of 13 cynomolgus monkeys were treated topically twice daily with echothiophate iodide. The dosages were increased gradually over several weeks to plateau levels ranging from 125 to 500 mug daily. The opposite eyes of the ten unilaterally treated monkeys received a control solution (DILUENT) identical save for the absence of echothiophate. All 16 echothiophate-treated eyes developed posterior subcapsular cataracts and 15 developed anterior subcapsular cataracts. The lenses in all ten DILUENT-treated eyes remained clear. The cataracts in the echothiophate-treated eyes strongly resembled those attributed to cholinesterase inhibitors in humans. They were first noted from 2 1/2 to 14 weeks after beginning echothiophate treatment. Prior total iridectomy caused a more rapid progression and/or greater severity of lens changes. Higher echothiophate dosages caused the cataracts to appear more rapidly.
Subject(s)
Cataract/chemically induced , Echothiophate Iodide , Animals , Dose-Response Relationship, Drug , Female , Haplorhini , Iris/surgery , Macaca fascicularis , MaleABSTRACT
In a medical health survey in 1964 of 6995 subjects, 64 persons with M-components were detected by serum electrophoresis. One had clearcut signs of myelomatosis and one had lymphatic leukemia. Eleven years later 27 persons had died. In the case with lymphatic leukemia the disease had changed after 6 years into a myelomatosis. One person died after 9 years from a malignant lymphoma. Among the 37 persons still alive there seemed to be no clustering of diseases. The whole series represents an observation time of 487 years. No more myelomas or lymphomas were detected. One M-component had disappeared.
Subject(s)
Immunoglobulin Fragments , Leukemia, Lymphoid/immunology , Lymphoma/immunology , Aged , Blood Protein Electrophoresis , Female , Follow-Up Studies , Humans , Immunoglobulin Fragments/analysis , MaleABSTRACT
Four surgically aniridic vervet monkeys with clear lenses received topical echothiophate iodide unilaterally daily for eight weeks. The opposite eyes received a control solution without echothiophate. All the echothiophate-treated eyes developed subcapsular lens opacities sttongly resembling those attributed to echothiophate in humans. The lenses in the control eyes remained clear.
