ABSTRACT
Fechtner syndrome, a variant of Alport syndrome, was first reported by Peterson et al. [1985]. It is characterized by nephritis, hearing loss, eye abnormalities, macrothrombocytopenia, and leucocyte inclusions, present in varying combinations in several members of the same family. This is the second family reported; 16 relatives are affected. The clinical manifestations of the syndrome are delineated. The pattern of inheritance is autosomal dominant. The hematologic abnormalities are similar to those detected in May Hegglin anomaly. They are present in every affected relative and may be present at birth. The feasibility of prenatal diagnosis is discussed.
Subject(s)
Abnormalities, Multiple/genetics , Nephritis, Hereditary/genetics , Abnormalities, Multiple/blood , Adolescent , Adult , Blood Platelets/ultrastructure , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Nephritis, Hereditary/blood , Neutrophils/ultrastructure , Pedigree , Thrombocytopenia/blood , Thrombocytopenia/geneticsABSTRACT
Plasma lipid and lipoprotein pattern and platelet activity were studied in blood samples derived from veins and arteries of 10 healthy male subjects. A significant reduction in plasma high-density lipoprotein (HDL) cholesterol, triglyceride and protein levels, as well as in plasma apolipoprotein A-I, was found when lipoproteins were derived from arterial blood in comparison to venous blood. All other lipoproteins were not significantly changed. Platelet activity measured as plasma beta-thromboglobulin levels and as collagen-induced platelet aggregation and 14C-serotonin release in platelet-rich plasma was markedly elevated when platelets were derived from arterial blood. Since reduced plasma HDL concentration and platelet activation are known risk factors for atherosclerosis, our study may suggest a further explanation for the presence of atherosclerotic lesions in arteries but not in veins.
Subject(s)
Arteries , Blood Platelets/physiology , Lipoproteins, HDL/blood , Veins , Blood Platelets/metabolism , Humans , Lipids/blood , Lipoproteins, LDL/blood , Lipoproteins, VLDL/bloodABSTRACT
Concomitant occurrence of meningeal involvement and thoracic plasmacytoma was observed in a patient with IgA lambda myeloma. Cerebrospinal fluid analysis revealed IgA-lambda paraprotein and pathological plasma cells. CT scan of the chest and lumbar myelogram excluded spinal cord compression. The patient partially responded to craniospinal irradiation but succumbed to rapidly progressive myeloma 20 weeks following diagnosis of meningeal involvement.
Subject(s)
Meningeal Neoplasms/radiotherapy , Multiple Myeloma/radiotherapy , Aged , Bone Marrow/pathology , Combined Modality Therapy , Female , Humans , Hypergammaglobulinemia/immunology , Immunoglobulin A/analysis , Immunoglobulin lambda-Chains/analysis , Meningeal Neoplasms/cerebrospinal fluid , Meningeal Neoplasms/secondary , Multiple Myeloma/cerebrospinal fluid , Multiple Myeloma/pathologyABSTRACT
Hemodialysis patients suffer from premature atherosclerosis and various thrombotic and thromboembolic phenomena. Despite enhanced in vivo platelet activity, it is unclear whether in vitro platelet aggregation is increased or reduced in this population. We studied platelet aggregation in response to adenosine diphosphate and to epinephrine in 20 chronic hemodialysis patients and 21 controls. In the patient group the in vitro platelet aggregation was significantly enhanced in response to both aggregating agents. Our study demonstrated that in vitro platelet aggregation is enhanced in patients with chronic renal failure undergoing hemodialysis.
Subject(s)
Kidney Failure, Chronic/blood , Platelet Aggregation , Renal Dialysis , Adenosine Diphosphate/pharmacology , Adult , Epinephrine/pharmacology , Female , Humans , In Vitro Techniques , Kidney Failure, Chronic/therapy , Lipoproteins/blood , Male , Middle Aged , Platelet Aggregation/drug effectsABSTRACT
Increased platelet activation has been shown to be a feature of patients with familial hypercholesterolaemia. Plasma lipoprotein concentration and composition were studied in eleven male patients with familial hypercholesterolaemia and in ten age-matched healthy controls. Increased levels of cholesterol were found in very-low- and low-density lipoproteins (53 and 275%, respectively), whereas in high-density lipoprotein, both cholesterol and apolipoprotein A-I were decreased by 21 and 26%, respectively. On incubation of gel-filtered platelets derived from normolipidaemic controls with identical concentrations of lipoproteins derived from either nomolipidaemic controls or hypercholesterolaemic patients very-low- and low-density lipoproteins from the patients caused significantly greater thrombin-induced platelet aggregation (P less than 0.01). High-density lipoprotein from normal subjects reduced platelet release by 22%, whereas the patients' high-density lipoprotein had no significant effect on platelet release. Lipoprotein-deficient plasma from both groups augmented platelet function to a similar extent. Lipoprotein composition has an important effect on platelet function in vitro. The abnormal lipid and protein composition of the lipoproteins derived from hypercholesterolaemic patients appears to be the cause of platelet hyperactivity observed in these patients.
Subject(s)
Hyperlipoproteinemia Type II/blood , Lipoproteins/blood , Platelet Aggregation , Adult , Apolipoproteins/blood , Blood Platelets/metabolism , Carbon Radioisotopes , Cholesterol/blood , Cholesterol, HDL , Cholesterol, LDL , Cholesterol, VLDL , Humans , Isoelectric Focusing , Lipoproteins, HDL/blood , Lipoproteins, LDL/blood , Lipoproteins, VLDL/blood , Male , Middle Aged , Serotonin/metabolismABSTRACT
High-density lipoprotein (HDL) levels were studied in 10 male patients with severe coronary atherosclerosis and in 10 well-matched controls. All subjects were normolipidemic, and the presence of a disease or other factor influencing HDL levels were excluded. Very low density lipoprotein and low-density lipoprotein levels were similar in both groups, but HDL concentration was significantly lower in the patient group. Analysis of HDL subfractions revealed that both HDL2 and HDL3 concentrations were significantly lower in the patient group. The composition of both HDL subfractions was also altered in the patient group: an increased cholesterol-to-protein ratio was found. These data strengthen the evidence in support of an important and independent role for HDL in the pathogenesis of coronary atherosclerosis. It appears that both HDL2 and HDL3 are implicated and that both the concentration and composition of HDL are important.
Subject(s)
Coronary Disease/blood , Lipoproteins, HDL/blood , Adult , Aged , Humans , Lipoproteins, HDL2 , Lipoproteins, HDL3 , Lipoproteins, LDL/blood , Lipoproteins, VLDL/blood , Male , Middle AgedABSTRACT
The case of a 74-year-old woman with toxic thyroid adenoma, presenting as complete heart block, is described. Upon admission the patient was in a state of circulatory collapse with metabolic acidosis and hyperkalemia. After initiation of right ventricular pacing the circulatory and metabolic disorders rapidly normalized without any other specific therapy. Since treatment and attainment of the euthyroid state the patient has had no conduction delays or arrhythmias. Complete heart block in thyrotoxicosis is uncommon and previous reports relate to its occurrence in Graves' disease, usually complicated by infectious disorders. This is the only case known to us of complete heart block in toxic thyroid adenoma.
