Showing papers by "Masaaki Nakayama published in 1995"
TL;DR: Clinical evidence is shown of a possible common mechanism responsible for a progressive hypothalamo-pituitary and cerebellar impairment of late onset in two sisters presenting with Holmes type cerebellare ataxia and retinochoroidal degeneration recently diagnosed as Boucher-Neuhäuser syndrome.
Abstract: The association of familial hypogonadism with progressive cerebellar ataxia is only rarely encountered, and the exact link between the symptoms remains unknown. We report here two sisters presenting with Holmes type cerebellar ataxia, hypogonadotropic hypogonadism and retinochoroidal degeneration recently diagnosed as Boucher-Neuhauser syndrome. There was consanguinity between the parents of the affected individuals and the condition seemed to be inherited as an autosomal recessive defect. On endocrinological examinations, in both cases, the responses of LH and FSH to LH-RH (100 micrograms) were impaired even after repetitive stimulation with LH-RH (400 micrograms, 7 days), suggesting that the hypogonadism was due to a primary pituitary disturbance. Impaired GH responses to GRF (100 micrograms) and insulin-induced hypoglycemia (0.1 U/kg) were also noted. The two sisters shared an almost identical clinical and endocrinological picture. Their karyotypes were 46, XX. They had been treated for primary and secondary amenorrhea at the age of 20 years and neurological problems had started at the age of 30 years. This unique family displays clinical evidence of a possible common mechanism responsible for a progressive hypothalamo-pituitary and cerebellar impairment of late onset.
26 citations
TL;DR: In peripheral vasculature and kidney, an enhanced sensitivity of vascular smooth muscle to NO is present in early NIDDM and glomerular hyperfiltration by DDAVP and GTN infusions and EDR seems to change with the development of NID DM.
Abstract: Desmopressin (DDAVP), an AVP·V 2 -receptor agonist, evokes endothelium-dependent relaxation (EDR) due to nitric oxide (NO), EDR factor (EDRF) in the systemic vasculature, and glomerular afferent arterioles via AVP receptor(s). Glyceryl trinitrate (GTN) causes endothelium-independent (nonreceptor-mediated) vasodilation. We elucidated the possible involvement of EDRF in early non-insulin-dependent diabetes mellitus (NIDDM) and glomerular hyperfiltration (GHF) by DDAVP and GTN infusions. Patients with advanced DM nephropathy (DM · Np) ( n = 7) were also examined. DDAVP and GTN decreased the mean blood pressure in DM with GHF (DM + GHF) and without GHF (DM-GHF) greater than that in normal subjects (N), without any difference in the heart rate changes in any group. Plasma levels of cGMP, a cellular messenger of NO, were significantly increased by DDAVP and GTN with a similar increment in each group. DDAVP caused a significant increase in urinary cGMP excretion in each group with a similar increment in each group. However, it caused a transient increase in creatinine clearance only in DM + GHF although GTN did not, and an exaggerated excretion of urinary albumin in early NIDDM, especially in DM + GHF, without a change in β 2 -microglobulin excretion. In contrast, in DM · Np GTN caused a decrease in blood pressure and an increase in plasma cGMP levels, but DDAVP did not. In conclusion, in peripheral vasculature and kidney, an enhanced sensitivity of vascular smooth muscle to NO is present in early NIDDM. The exaggerated dilation of glomerular afferent arterioles by preferentially produced NO in in situ, which causes a rise in P GC , might be partly responsible for the glomerular hyperfiltration and subsequently the increase in the glomerular protein permeation of DM + GHF. However, in peripheral blood vessels of DM · Np EDR is impaired. Thus, EDR seems to change with the development of NIDDM.
19 citations
TL;DR: The overall median technical survival of chronic continuous ambulatory peritoneal dialysis patients and treatment in the 6 years since the commencement of CAPD at the Jikei University Hospital is concerns.
Abstract: This paper concerns the overall median technical survival of chronic continuous ambulatory peritoneal dialysis (CAPD) patients and treatment in the 6 years since the commencement of CAPD at the Jikei University Hospital. Diabetic end-stage renal disease (ESRD) patients showed 5 years' survival, apparently shorter than that of nondiabetic ESRD which was 7 years. From this fact, the question of whether CAPD is the best dialytic option in diabetic ESRD should be reevaluated. Although a remarkable reduction in the incidence of peritonitis has been seen, generally ranging from 1 episode/40 patient months to 60 patient months or more in Japan, one serious issue still to be addressed is exit site/skin tunnel infection. The incidence is around 1 episode/30 patient months in our hospital. Discovering how to prevent this infection is a matter of some urgency. Peritoneal dialysis is a limiting dialytic modality as far as the biomembrane used. Although the precise mechanisms deteriorating the peritoneal function are still obscure, the treatment of sclerosing encapsulated peritonitis is also an urgent matter. Regarding bone disease and metastatic calcification, adynamic bone disease is frequently observed in ESRD patients: However, the pathogenesis of this morbidity has not been clarified. Treatment of extraosseous calcification in vessels and periarticular, and visceral organs should be developed. New dialytic alternatives to glucose and/or lactate-based solutions have been under experimental study. Until a new solution is delivered commercially, CAPD will remain a transient therapy. Our large study of CAPD patients revealed that 26% were malnourished. The biochemical parameters, amount of daily protein intake, and KT/V did not show significant differences between those patients identified as well nourished versus malnourished. The causes of malnutrition should be considered from other points of view such as endocrinological circumstances. Newer therapeutic approaches to malnutrition are also required.
11 citations
TL;DR: In this article, a 52-year-old woman was diagnosed as having cerebellar ataxia, hypogonadotropic hypogono-morphosis and retinochoroidal degeneration, the so-called Boucher-Neuhauser syndrome.
Abstract: A 52-year-old woman was diagnosed as having cerebellar ataxia, hypogonadotropic hypogonadism and retinochoroidal degeneration, the so-called, "Boucher-Neuhauser" syndrome proposed by Limber et al (Am J Med Genet 33:409, 1989). In addition, laboratory findings showed the elevation of serum calcium (Ca) levels, low urinary Ca excretion, and exaggerated reabsorption of filtrated Ca (FECa: 0.14%), suggesting complication of hypocalciuric hypercalcemia. This is a very rare case of Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia.(Internal Medicine 34: 18-23, 1995)
8 citations
TL;DR: In this article, the femoral vein puncture (FV-method) instead of Arteriovenouos fistula (AVF) was used for long-term hemodialysis treatment.
Abstract: It is well known that blood access is essential for long-term hemodialysis treatment. Arteriovenouos fistula (AVF) is the most widely used method. However, this method of access frequently fails (access failure) as a result of stenosis. We attempt simple femoral vein puncture (FV-method) instead of AVF in such patients and have experienced 12 patients who were undergoing hemodialysis treatment using the FV-method, three times a week for more than one year. We devised special needles (18- and 19-gauge) for the FV-method. Generally, we use a 19-gauge needle with 4 side holes. We discuss here the results of 12 patients consisting of 4 males and 8 females with a mean age of 57.9 years, a mean duration of dialysis of 10.0 years, and a mean duration of FV-method of 3.5 years. Their underlying diseases were chronic glomerulonephritis (9 patients), diabetic nephropathy (2 patients) and nephrosclerosis (1 patient). Before the use of the FV-method, AVFs were attempted a man of 3.8 times and an artificial graft, 4 times in 3 patients. Ten patients were outpatients and 2 were inpatients. As for the indications of the FV-method, 11 patients had access failure and another had suffered from heart failure resulting from an over flow of blood through AVF. KT/V, PCR and TACBUN were measured monthly and were within the normal range in almost all of the patients. Concerning complications of the FV-method, hematoma formation after detachment of the needle at the end of dialysis and pain at needle puncture were sometimes noted.(ABSTRACT TRUNCATED AT 250 WORDS)
1 citations