Assessment of subcutaneous fat using ultrasonography in the Ullrich-Turner syndrome.

Subcutaneous fat was measured using an ultrasonic method (SF-US) in girls with Ullrich-Turner syndrome (UTS) and in height and weight-matched controls. The method is not influenced by changes in cutaneous compressibility, which is frequently abnormal in UTS especially at a younger age. SF-US in the arms was significantly less in UTS patients (ulnar SF-US: P < 0.05; triceps SF-US: P < 0.005) than in the control girls. Results in suprailiac SF-US measurement was also similar (P < 0.05). Though the mean SF-US in the subscapular region was less in UTS patients than the control girls, there was no statistically significant difference. It is demonstrated that subcutaneous fat in UTS patients is less in their arms than in girls without UTS and that trunkal fatness is not increased but rather decreased in the UTS. The ratio of lean body mass to weight seems higher in UTS patients than in girls with similar weight and height.

Synthesis of linear-type chondroitin clusters having a C8 spacer between disaccharide moieties and enzymatic transfer of D-glucuronic acid to the artificial glycans.

Newly designed linear-type glycoclusters were synthesized which involve a chondroitin repeating disaccharide ligand and a hydrophobic octyl ether spacer. The spacer mimics the corresponding disaccharide unit. Repeating elongation of the pseudo-tetrasaccharide that was derived from the common cluster unit [-->8)-octyl-(1-->3)-beta-D-Gal-NAc-(1-->4)-beta-D-GlcA-(1-->] allowed the syntheses of up to the pseudo-decasaccharide analog of chondroitin. An enzymatic D-GlcA transfer at the non-reducing end of the synthesized artificial glycans by GlcATase II was observed.

Effects of pranidipine, a new calcium antagonist, on circulation in the choroid, retina and optic nerve head.

PURPOSE: To study the effects of pranidipine, a newly developed Ca(2+)-antagonist, on tissue circulation in the optic nerve head (ONH), choroid, and retina in rabbits. METHODS: Pranidipine (5 microg/kg) or vehicle solution was injected intravenously in urethane-anesthetized rabbits and the normalized blur value (NB), a quantitative index of in vivo tissue blood velocity, was measured in the choroid and in an area of the ONH and retina free of visible surface vessels before and for 90 min after injection, using the laser speckle method. Measurements in the ONH and choroid were performed in the same albino rabbit eyes (pranidipine group, n = 10; control group, n = 10) and those in the retina in another group of Dutch rabbits (pranidipine group, n = 10; control group, n = 10). RESULTS: Between 30 and 90 min after injection, the NB in the pranidipine group increased by 24% in the ONH, 19% in the choroid, and 17% in the retina on an average compared to baseline, and was significantly different from that in the control group (P < 0.0001, ANOVA). There were no significant inter-group differences in the systemic parameters, except for a transient decrease in blood pressure in the pranidipine groups. CONCLUSIONS: Pranidipine increased blood velocity and probably blood flow in the ONH, choroid, and retina of rabbits.

Effect of continuous intravenous infusion of carteolol chloride on tissue blood flow in rabbit optic nerve head.

PURPOSE: To investigate the effect of an intravenous infusion of carteolol on tissue blood flow in the optic nerve head (ONH) of rabbits. METHODS: Rabbits received either a 3-week topical instillation, or a single intravenous injection (10, 20, 30 microg/kg) or a continuous intravenous injection (2.5, 5, 20, 40, 80 microg/kg per hour) of carteolol. The plasma carteolol level was determined by the gas chromatography negative-ion chemical ionization mass spectrometric method. The ONH blood flow was determined by the hydrogen clearance method. RESULTS: The plasma level of carteolol after a 3-week instillation was 5.55 ng/mL, and a continuous intravenous injection (5 microg/kg per hour) led to approximately the same plasma level. The continuous intravenous infusion of 5 microg/kg per hour of carteolol significantly increased the ONH blood flow compared to the controls from 30 minutes to 2 hours after the beginning of the infusion (n = 10). The mean blood pressure and intraocular pressure (n = 6) were not significantly changed during the continuous intravenous infusion of carteolol. CONCLUSIONS: These results suggest that the plasma carteolol level in rabbits after long-term instillation can increase the ONH blood flow. We conclude that the increase resulted from a reduction in the vascular resistance in the ONH.

[The effect of continuous and intravenous application of carteolol chloride on tissue blood flow in the rabbit optic nerve head].

The effect of systemic application of carteolol, which induces almost the same plasma carteolol level as obtained by a long-term instillation on rabbit eyes, on the tissue blood flow in the optic nerve head (ONH) was investigated in rabbits. The plasma carteolol levels in 27 rabbits which received 3-week instillation, intravenous injection (10, 20, 30 micrograms/kg), or continuous intravenous injection (2.5, 5, 20, 40, 80 micrograms/kg/hr) were measured by gas chromatography-negative-ion chemical ionization mass spectrometry. The plasma level with 3-week instillation was determined as 5.55 ng/ml and a continuous intravenous injection (5 micrograms/kg/hr) caused nearly the same plasma level. The intravenous injection of this dose significantly increased the ONH blood flow which was determined by the hydrogen clearance method, compared with controls from 30 minutes to 2 hours after the injection (n = 10). The vascular resistance in ONH was thought to be reduced because mean blood pressure and intraocular pressure (n = 6) were not significantly changed. The results suggest that the plasma carteolol level in rabbits after a long-term instillation can increase ONH blood flow due to a decreased vascular resistance.

Effect of dantrolene on histamine release from rat peritoneal mast cells.

Dantrolene strongly and dose-dependently inhibited histamine release from rat peritoneal mast cells induced by anti-IgE. Dantrolene inhibited Ca(2+)-mobilization from intracellular Ca(2+)-store as well as histamine release in mast cells activated by anti-IgE, the effect on both these phenomena being closely correlated. These results suggested that the effect of dantrolene on histamine release from rat mast cell might be due to the inhibition of Ca(2+)-release from intracellular Ca(2+)-store.

Role of calcium in histamine release from rat mast cells activated by various secretagogues; intracellular calcium mobilization correlates with histamine release.

Anti-IgE, con A or antigen caused an increase in the intracellular calcium concentration, [Ca2+]i, of mast cells. The increase occurred in two stages: a rapid initial rise caused by Ca-mobilization from intracellular Ca-stores and a second sustained rise caused by an influx of extracellular calcium (White, J.R., Pluznik, D.V., Ishizaka, K. & Ishizaka, T. (1985) Proc. Natl. Acad. Sci. U.S.A. 82, 8193-8197). The rapid initial rise was followed by a release of histamine, which seemed to coincide with the second rise. A23187 and compound 48/80 induced a rapid initial rise in [Ca2+]i, followed by a gradual decrease in [Ca2+]i, GMCHA-OPhBut, a specific pH 7 tryptase inhibitor (Muramatu, M., Ito, T., Takei, M. & Endo, K. (1988) Biol. Chem. Hoppe-Seyler 369, 617-625), strongly inhibited both the initial and second rises of [Ca2+]i, as well as histamine release by these secretagogues, and its effects on the initial rise were closely correlated with those on histamine release. Addition of GMCHA-OPhBut immediately after the initial rise strongly inhibited the second rise, thereby decreasing the final [Ca2+]i. These results strongly suggested a possible involvement of pH 7 tryptase, not only in Ca-mobilization leading to the initial rise in [Ca2+]i, but also in the second rise. Trapping of extracellular calcium by 3mM EGTA decreased both the initial rise in [Ca2+]i and histamine secretion induced by anti-IgE or con A; the magnitude of this effect depended on the time between induction and EGTA addition. Histamine release was closely correlated with the initial rise in [Ca2+]i. Similar results were obtained with A23187, but even 5 min after the addition of EGTA an initial rise of [Ca2+]i could still be induced, and histamine (30% of total histamine) was still released. However, A23187 did not induce a rise in [Ca2+]i in mast cells which had been exhaustively washed with Tyrode/Hepes solution containing 3mM EGTA, followed by suspension in the same solution. Even at 20 min after depletion of the extracellular calcium, compound 48/80 still caused an initial rise in [Ca2+]i to above half the maximal value, and histamine secretion was even less affected. The above results indicated that the initial rise in [Ca2+]i, due to Ca-mobilization, correlates with the histamine release promoted by the secretagogues described. On the other hand, isoproterenol strongly induced histamine secretion with no change of [Ca2+]i, while EGTA treatment prior to isoproterenol stimulation had no effect on histamine release, indicating a different secretion mechanism.

Maternal perception of children's weight in relation to eating disorders.

Abnormal perception of body weight in girls has been reported previously (1), and distorted perception of body shape is cited as one of the pathogenetic factors in eating disorders such as anorexia and bulimia nervosa (2,3). Parent-child relationships should also be considered as one of the factors possibly contributing to the onset of the eating disorders (3,4). In the present paper we shall examine whether mothers perceive the weight of their sons and daughters correctly or not, and we shall also compare the results with the perceptions of the children themselves, which we have reported previously in this journal (1). Five outline drawings (-20% to 20% overweight), used in the previous study (1), were shown to the mothers, who were asked to select the drawings which they considered to represent the body weight of their sons (n = 130) and daughters (n = 125), who were aged 6 to 18 years. The mean body weights of the boys and girls in the study sample were 6.0% and 6.6% overweight, respectively. The mothers perceived the weight of their sons to be significantly (P < 0.01) less than the actual weight of these boys. The mean difference between the perceived weight and the actual weight was 10.4%. The mothers' perception of their daughters' weight was also 7.9% less than the actual weight (P < 0.05) (Fig. 1).

Carbohydrate-deficient glycoprotein syndrome in a girl with hypogonadism due to inactive follicle stimulating hormone.

We report a very rare case of a girl with hypogonadism probably due to inactive FSH. She had been diagnosed as carbohydrate-deficient glycoprotein syndrome. The 14-year-old patient had no secondary sexual characteristics with the 46,XX karyotype and estradiol (E2) levels were undetectable. Follicle stimulating hormone (FSH) levels were extremely high and responded exaggeratedly to luteinizing hormone-releasing hormone (LH-RH). The E2 levels, on the other hand, were elevated after stimulation with human menopausal gonadotropin (75 units/day) for 5 days, suggesting biologically inactive FSH in the circulation. Abnormal structure in the glycoprotein may be possibly related with hypogonadism.

Excessive food aversion, compulsive exercise and decreased height gain due to fear of obesity in a prepubertal girl.

A case of a 7-year-old girl with a remarkable food aversion and excessive weight reduction caused by fear of obesity, which has been demonstrated in pubertal girls with symptoms partly similar to anorexia nervosa, is reported. Although the patient's weight was reduced to the upper limits of the normal range with diet and exercise, she reduced her food intake more strictly and did not at all eat food consisting of carbohydrates. Exercise was performed longer than before. Her weight continued to decrease and height velocity lowered from 6.0 to 4.1 cm/year (mean +/- SD of the age-matched normal girls: 5.5 +/- 0.74 cm/year). Her eating behavior was normalized without specific psychotherapy for anorexia nervosa. It is suggested that food aversion with weight loss and decrease in height gain due to fear of obesity may occur in prepubertal children as well as in adolescent girls.

Efficacy of bromocriptine administration for selective pituitary resistance to thyroid hormone.

The relation between thyroid-stimulating hormone (TSH) and triiodothyronine (T3) was evaluated in a girl with the selective pituitary type of thyroid hormone resistance for more than 7 years to clarify whether bromocriptine was an effective treatment or not. Levels of T3 (before: 2.44 +/- 0.64 nmol/l, mean +/- SD) and TSH (4.81 +/- 2.52 mU/l) were significantly decreased during therapy (T3: 2.15 +/- 0.44 nmol/l; TSH: 1.59 +/- 0.78 mU/l). T3 x TSH, calculated as one of the indices of pituitary resistance, on bromocriptine therapy (3.229 +/- 1.255 mU/l x nmol/l) was significantly (p < 0.005) smaller than the product before the administration (11.298 +/- 5.891 mU/l x nmol/l). The results suggest that bromocriptine should be one of the agents initially considered for the treatment of pituitary resistance to thyroid hormone.

Long QT syndrome with insulin-dependent diabetes mellitus: contiguous gene syndrome on chromosome 11p.

Long QT syndrome (Romano-Ward syndrome) and insulin-dependent diabetes mellitus (IDDM) have been documented as being linked with gene(s) on chromosome 11p although concurrence of the two disorders has not been reported. Our case is a 13-year-old boy with Romano-Ward syndrome accompanied by IDDM. The long QT syndrome seemed to be transmitted in an autosomal-dominant mode because the Q-T intervals of his father and paternal grandfather were longer than normal. There was no family member with an abnormally high level of blood glucose except the patient. The human leucocyte antigen (HLA) haplotypes of the patient and the father were DR4/DR9 and DR2/DR9, respectively. This study suggests that in our patient IDDM, as well as Romano-Ward syndrome, is linked with chromosome 11p in the presence of HLA-DR4. The results support the previous study that chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility.

An infant with pseudohypoaldosteronism accompanied by cholelithiasis.

A case of an infant with very rare concurrence of pseudohypoaldosteronism and cholelithiasis is described. Aldosterone concentration was extremely high (64.6 nmol/l; normal 0.03-4.4 nmol/l) and fludrocortisone did not have favorable effects on hyperkalemia (7.4 mEq/l) and hyponatremia (124 mEq/l). A gallstone was found using ultrasonography at age 6 months, and it was extirpated surgically. The combination has not been reported previously. The study supports the previous hypothesis that cholelithiasis is found more often in infants with dehydration or electrolyte derangement.

Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26).

We report a case of a boy with a partial deletion of the long arm of chromosome 10 and partial duplication of the long arm of chromosome 9 due to maternal balanced translocation. The karyotype was 46,XY,-10, +der(10)t(9;10)(q32;q26)mat. Our patient had imperforate anus and as this finding is usually not observed in association with trisomy 9q, it suggests that partial monosomy of the long arm of chromosome 10 might be associated with anogenital anomalies.