Serum 25-hydroxy-vitamin D (25-OH-D) was determined in 19 healthy subjects and in76 patients with chronic hemodialysis. Low serum level was found in hemodialysed patients.However, the longer was the period of hemodialysis, the closer was serum 25-OH-D to normallevel. A significant correlation was noted between serum 25-OH-D and protein intakeor serum total protein. Hemodialysed patients in whom daily urinary volume was less than 100ml showed the highest level of serum 25-OH-D. When dialy activities of patients increased, serum 25-OH-D level showed a tendency to become to normal level.

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Negative intradermal tests with PPD were found in 88% of SLE cases, 52% of caseswith other connective tissue diseases and allied conditions and 6% of normal controls.Negative SK-SD tests were in 86% of SLE, 42% of others and 40% of controls. Negative Candida tests were in 36% of SLE, 16% of others and 0% of controls. Positive DNA tests were 40% of SLE, 13% of others and 0% of controls. SLE cases with positive for DNA test appeared clinically active and to have lymphopenia in the peripheral blood.Lymphopenia lower than 1, 500/mm³ was frequently seen in SLE (88%) than in others (42%).There wasno preponderance of negative result of intradermal tests in the aged.

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We present, here, a few thoughts on the mechanisms involved in the development ofsymptoms in rheumatoid arthritis (RA) following a study of cellular and humoral parameters.The PPD skin reaction was used as an in vivo index and was markedly decreased in 11 out of 58 cases tested. The DNCB skin test, however, was positive in 40 of a total58 cases, 12 of these showing hyper-reactivity. T-lymphocytes causing rosette formation of sheep erythrocytes were used as an in vitro index, and were present in decreased numbers, 44.3±15.7 (control 50.6±13.6) . Despite this, there was a slightly increased reaction to PHA.B-lymphocytes indicative of surface immunoglobulin were found in increased numbers (35.9±20.8 ; control 24.6±9.8). There was no correlation between the numbers of B-lymphocytesand RF, but patients with an increased sedimentation rate had an increase in B-lymphocytes.Inhibition of migration was demonstrated with MIT and LIT using both antigenic material from synovial tissue and also heat-denatured IgG. Moreover, it was possible to show thatsensitization to these antigens was present in the patients with RA. There was no correlationbetween LIT, the antigenic material of heat-denatured IgG, and RF. The followingpoints were suggested by our findings : 1. Both qualitative and quantitative abnormalitiesof T- and B-lymphocytes were present in RA ; 2. The abnormalities of cellular immunityhad occurred in response to antigens of synovial tissue and heat-denatured IgG ; 3. There
was no sighificant correlation between cellular and hormonal indices.

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Two siblings with mucolipidosis were reported. The first case was a 22 year-old female.Her chief complaints were tachycardia and unsteadiness of gait, which were gradually progressive.Clinical pictures were characterized by the presence of slightly gargoyle face, angiokeratomas, corneal opacities, macular cherry-red spots, ataxic gait, abnormal movement(probably action myoclonus), anterior beaking of vertebral body, paroxysmal supraventriculartachycardia, vacuolated cells in the fibroblasts of the skin, bone marrow andperipheral lymphocytes. The second case was a 15 year-old boy and the brother of the firstcase. He showed hearing disturbance, distinct myoclonus and generalized seizures but ECGrevealed a normal sinus rhythm. Other features resembled to the first case. Both casesindicated deficiency of β-galactosidase in leukocytes and normal urinary excretion of uronicacid containing mucopolysaccharides. Epileptic pattern in EEG was detected in both cases.They have clinical features of both mucopolysaccharidoses and sphingolipidoses and theymost resemble mucolipidosis I to which Spranger and Wiedemann proposed. But mucolipidosisis a rather equivocal disease entity and therefore it is possible that further heterogeneityexists within the mucolipidosis. However, the name of mucolipidosis is considered to be useful in practice at present, until biochemical identification of an abnormal storagesubstances are detected. The neurological findings of the second case are thought to be atypical case with dyssynergia cerebellaris myoclonica and these of the first case, an atypicalone.

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Two Japanese kindreds of familial hypercholesterolemia, each including a case of homozygote, are presented. The rate of cholesterol synthesis as well as 3-hydroxy-3-methylglutarylcoenzyme A (HMG-CoA) reductase activity of cultured fibroblasts obtained fromthe homozygotes were 8-20 times as much as the control. This elevated activity of HMG-CoA reductasedid not change when lipoproteins were removed from culture medium, suggestingthat the homozygote's cells are resistant to the regulation by lipoproteins. A low-fatdiet lowered the serum concentration of cholesterol of a homozygote from 1000 down to 673mg/dl, whereas the supplementation with vegetable oil, 30g per day, brought it up to 875mg/dl. Intravenous alimentation reduced the serum cholesterol to a level much lower than the one obtained by the dietary therapy. The serum concentration of cholesterol in heterozygotes ranged between 304-351 mg/dl.

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A 25-year-old female complaining of amenorrhoea, loss of body weight, anorexia, polyuria, and polydipsia was evaluated from the endocrinological point of view. Clinical manifestationand basic laboratory data were consistent with hypothyroidism with undetectablethyrotropin (TSH), hypogonadotropic hypogonadism and diabetes insipidus with hypernatremia.Thyrotropin-releasing hormone (TRH) induced a rise in serum TSH with an increase in prolactin (PRL). Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) responded normally to luteinizing-hormone-releasing- hormone (LHRH). Urinary total gonadotropin excretion was low. Growth hormone (GH) response to insulin hypoglycemia was impaired both before and after the replacement therapy of thyroid hormone. Pituitary adrenal axis was demonstrated to be intact. Plasma antidiuretic hormone (ADH) concentration was low and the rise in ADH seen in normal subjects after water deprivation was absent. Pitressin test resulted in a decrease in urinary volume and elevation of its osmolality. Both of plasma renin activity (PRA) and aldosterone concentration were elevated. Judging from these tests, the diagnosis of hypothalamic hypothyroidism, hypogonadism and diabetes insipitus (DI) was made. The absence of polydipsia may be explained by the disturbance of the thirst center located in the hypothalamus. The mechanism of hypernatremia is explained presumably by either thirst center disturbance or/and the activation of renin-angiotensinaldosterone system. Neurological examination, including spinal fluid, X-ray, and brain scintigram so far failes to reveal any organic lesion.

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