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Biomedical subjects

A Okuno

Publications and source records attributed to A Okuno.

At least 19 recordsLinked to original sources
PubMed1992

[Athyreotic congenital hypothyroidism in two sisters].

Two sisters with athyreotic congenital hypothyroidism are described. This is the fifth report on athyreotic congenital hypothyroidism in siblings. The elder sister is 14 years old and the younger one is 12. The parents have no consanguinity or family history of thyroid disease. Both of the patients were born before the start of neonatal screening tests for congenital hypothyroidism. After birth, they had jaundice, abdominal distention and constipation, which are typical symptoms of congenital hypothyroidism. Serum T4 levels were decreased, and the serum TSH levels were markedly increased. Therefore we diagnosed them as having congenital hypothyroidism. They have received replacement therapy with thyroxine since diagnosis and have shown normal development physically and psychologically. They were tested for thyroid scintigram when the elder sister was 9 years old and the younger one was 7. 123I thyroid uptakes were 0.69% and 0.64%, respectively. The thyroid scans demonstrated no focus of accumulation of 123I. They do not have trapping defect of iodine, because 123I ratio of saliva and serum were 41.3 and 46.3, respectively. From these results, we diagnosed them as having athyreotic congenital hypothyroidism. They and their mother do not have any antithyroid antibodies. We suppose that some genetic factor is responsible for the athyreotic congenital hypothyroidism.

Child↗
PubMed1992

Sonographic imaging of the thyroid gland in congenital hypothyroidism.

We have attempted to facilitate differential diagnosis of etiological types of congenital hypothyroidism using real-time ultrasonography. Sonography of the thyroid gland was performed on 418 normal children, and 23 patients with congenital hypothyroidism and hyperthyrotropinemia. The thyroid gland was imaged by transverse scanning at the neck; the maximum thickness and the maximum width of the right and left lobe were measured. On the basis of the normal thyroid gland size obtained from normal children, the thyroid gland image of the patients were classified into 4 types: large image, normal image, small image, and no image of the thyroid gland at the neck: no image of the thyroid gland indicated agenesis or ectopia; large thyroid gland image indicated goitorous hypothyroidism. On the other hand, normal or small thyroid gland image probably included mild or transient forms of hypothyroidism, and transient hyperthyrotropinemia; these 2 types required further examination to complete the diagnosis. We concluded that real-time ultrasonography of the thyroid gland was a useful diagnostic imaging technic for patients who revealed elevated serum thyrotropin on neonatal mass-screening.

Adolescent↗
PubMed1992

Cytochrome b positive X-linked chronic granulomatous disease: a normal cell surface expression of cytochrome b.

The polymorphonuclear (PMN) cells from a patient with cytochrome b positive X-linked chronic granulomatous disease (Xb+ CGD) were studied using flow cytometry. Both the cell surface expression of monoclonal antibody defined cytochrome b and the superoxide production (intracellular 2',7'-Dichlorofluorescin Diacetate oxidation) were investigated at a single cell level. Flow cytometry clearly demonstrated the complete absence of superoxide production in the patient's PMN cells, the mosaicism in his mother's PMN cells and also indicated the normal cell surface expression of cytochrome b. The results obtained by Western blot analysis and reduced-minus-oxidized spectra confirmed the presence of functional and normal amounts of cytochrome b. We concluded that this is a case of Xb+ CGD with a normal cell surface expression of cytochrome b.

Adolescent↗
PubMed1992

Growth hormone secretory status in patients with Turner syndrome.

The growth hormone (GH) secretory capacities in patients with Turner syndrome aged 5.1-15.9 years and those with constitutional short stature (CSS) aged 5.2-14.2 years were evaluated by pharmacological and physiological means. The GH response to hypoglycemia in the patients with Turner syndrome was lower than that in the patients with CSS. However, the GH response to arginine was not significantly different between the two patient groups. For the physiological test, the integrated concentration of GH (ICGH), the number of episodic peaks and their mean height were evaluated using blood obtained from the patients every 20 minutes for a period of 24 hours. The ICGH and the mean height of the episodic peaks in the patients with Turner syndrome were significantly lower than those in the CSS patients during the night but not during the day. Negative correlation between the bone age and the night-time values of ICGH was observed in the patients with Turner syndrome. Such correlation was not observed in the CSS patients. The patients with CSS showed a significant day-night difference in the ICGH and the mean height of the episodic peaks, but the patients with Turner syndrome did not show any significant day-night difference in either the ICGH or the mean height of episodic peaks. In conclusion, the GH secretory capacity in patients with Turner syndrome is lower than that in CSS patients.

Adolescent↗
PubMed1992

Pharmacokinetics of high-dose methylprednisolone in children.

Disposition of methylprednisolone was characterized in 11 children receiving the high-dose therapy (26.0 mg/kg on average). After intravenous infusion, methylprednisolone hemisuccinate was rapidly converted to methylprednisolone with a half-life of about 20 min. Methylprednisolone in serum, eliminated monoexponentially in 8 patients and biexponentially in the remaining three, had the mean residence time of about 3 h, and a terminal half-life of 2.5 h. The volume of distribution at steady state, and the clearance were 1.3 liters/kg and 0.5 liters/kg/h, respectively. Although these average pharmacokinetic parameters were comparable to those determined in other studies with conventional low doses, the clearance values in our data were characterized by 5-fold interindividual difference, suggesting large variations in exposures to methylprednisolone among children on the high-dose pulse therapy.

Adolescent↗
PubMed1992

[Relationship between recurrence of esophageal varices and changes of portal circulation after endoscopic injection sclerotherapy: evaluation by single photon emission CT].

The relationship between recurrence of esophageal varices after endoscopic injection sclerotherapy (EIS) and changes of the blood pool of portosystemic collaterals was studied in 36 patients with liver cirrhosis. Examination of the blood pool of portosystemic collaterals was performed by single photon emission CT (SPECT). Seven hundreds and forty MBq of 99mTc-RBCs, labeled by an in vivo technique, were given intravenously, and tomographic imaging of the intraabdominal vascular blood pool was performed. Before EIS, the blood pool images of the coronary vein were demonstrated in 34 cases (94.4%). According to changes of SPECT images, the patients were divided into 3 groups, that is, the groups showing a disappearance, decrease, and no changes of the blood pool images of the coronary vein. The recurrence rates of esophageal varices after EIS were 11.1% (1 of 9 patients), 40.0% (6 of 15 patients), and 90.0% (9 of 10 patients) in the disappeared, decreased and unchanged groups respectively. These values were significantly different between the disappeared group and the unchanged group (P less than 0.01), and between the decreased group and the unchanged group (P less than 0.05). These results indicate that the abdominal blood pool SPECT is useful for evaluating the therapeutic effectiveness of EIS.

Adult↗
PubMed1992

Aminophylline suppository-induced acute proctitis.

A 9-yr-old boy revealed anal hemorrhage after administration of an aminophylline suppository. Proctosigmoidoscopy demonstrated edema of the rectal mucosa with hyperemia and petechiae. We performed a provocation test and obtained the diagnosis of aminophylline suppository-induced acute hemorrhagic proctitis. One should recognize that acute hemorrhagic proctitis is a rare but important side effect of aminophylline suppositories, because they are commonly used for asthmatic children.

Acute Disease↗
PubMed1991

Extrahepatic portal vein aneurysm associated with a tortuous portal vein.

Portal vein aneurysm is rare and its etiology is controversial. A case of extrahepatic portal vein aneurysm associated with an unusually tortuous portal vein is described. Real-time ultrasonography showed anechoic masslike lesions at the porta hepatis communicating with the superior mesenteric vein and intrahepatic portal branches. This suggested the presence of two saccular portal vein aneurysms, 27 x 21 mm and 21 x 13 mm in size. Magnetic resonance imaging and portal venography confirmed the portal vein aneurysms and an unusually tortuous portal vein curving caudally between them. The liver was histologically normal and there was no evidence of portal hypertension. It is speculated that these portal vein aneurysms may have been congenital and that the associated tortuous portal vein might have been secondary to hemodynamic changes in the portal venous system.

Adult↗
PubMed1991

Hypocalcemic focal seizures in a one-month-old infant of a mother with a low circulating level of vitamin D.

We present a case of a one-month-old infant with hypocalcemia and rickets, with symptoms of focal seizures. The ictal EEG showed left occipital spikes spreading over all of the left hemisphere. From the laboratory studies, we concluded that a low maternal circulating level of vitamin D would cause infantile hypocalcemia and rickets, while immature renal response to parathyroid hormone and transient hypoparathyroidism in infancy would induce hyperphosphatemia. Hypocalcemia may be an important factor in the cause of focal seizures which start even after the age of one month. Further, investigation of maternal vitamin D levels should be done in infantile hypocalcemia.

Adult↗
PubMed1991

Age-related change of pulsatile gonadotropin secretion in Turner syndrome.

In an attempt to understand the dynamic change of the gonadotropin-releasing hormone-pituitary axis during the transitional stage from prepuberty to puberty, we investigated gonadotropin secretory patterns using a highly sensitive assay system and frequent blood sampling technique in children with Turner syndrome aged 5-17 y. Blood samples were collected every 20 min for 24 h in 16 cases, or every 30 min for 9 h (daytime 5 h, nighttime 4 h) in nine cases. Serum LH and FSH were measured by time-resolved fluoroimmunoassay. A 24-h profile of LH and FSH was analyzed by a computerized pulse detection program (PC-PULSAR). As early as 5 to 6 y of age, mean daytime LH concentration was significantly higher than nighttime concentration and pulsatile LH secretion existed throughout the day and night. At about 9 to 11 y of age, corresponding to the early stage of puberty, a dramatic increase in LH concentration and amplitude was observed, and both concentration and pulse amplitude were much higher during the night than during the day. However, these day-night differences became less clear at ages corresponding to late pubertal stages. Pulse frequency of LH secretion remained almost constant throughout the day and night at all ages investigated. As for FSH concentration, a trend similar to that of LH was observed, although day-night differences and age-related changes were less remarkable. Furthermore, pulsatile FSH secretion was detected in only a small number of the cases. These findings suggest that in Turner syndrome the hypothalamic gonadotropin-releasing hormone oscillator is functioning actively with constant frequency before the onset of puberty.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1989

Measurement of plasma free and total growth hormone concentrations in patients with growth hormone antibodies developed in response to therapy.

Recombinant human growth hormone is more antigenic than pituitary preparations. Since GH antibodies interfere with radioimmunoassay of GH, we measured plasma free and total GH in patients with pituitary dwarfism with GH antibodies during treatment with a recombinant methionyl GH preparation. Plasma free GH was measured in the supernatant after polyethylene glycol precipitation. Total GH was measured after extracting plasma with acid-ethanol. In normal subjects, both free and total GH levels were similar to those measured in plasma by a direct conventional RIA. Peak free GH levels after administration of 4 IU methionyl GH to 3 normal subjects were 38.0, 30.7 and 13.2 micrograms/1, values similar to those measured in most of the patients with GH antibodies. All values were undetectable in one patient with a very high antibody titre. Total GH levels were similar to free GH levels in normal subjects. In patients with GH antibodies, total GH levels were high compared with their free levels, but similar to those assayed by conventional RIA. The patient with the highest antibody titre had total GH levels which were the lowest of those observed in the patients with GH antibodies in spite of having the highest GH levels measured by conventional RIA. The antibody in this particular case may have a high capacity and a high affinity. A relatively poor growth rate in this patient may be associated with the finding of undetectable free GH levels. Measurement of plasma free and total GH may be of value in examining GH dynamics and their relation to the clinical effectiveness of GH treatment in patients with GH antibodies.

Adolescent↗
PubMed1988

Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.

Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular-genetically. All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency. High-resolution GTG-banded chromosomes showed a microdeletion in the Xp21 region in all four patients examined and in all five mothers. Southern hybridizations, after digestions by restriction endonucleases, with various cloned DNAs (D2, 99-6, B24, C7, L1-4, cDMD13-14, J66-HI, P20, J-Bir, ERT87-30, ERT87-15, ERT87-8, ERT87-1, XJ-1.1, 754, cx5.7, and OTC-1) that are located around Xp21 also showed a deletion in the genome of all patients and mothers. Although the deletion differed in size among patients, a segment commonly absent was located between the genomic sequences corresponding to L1-4 and cDMD13-14. This finding indicated that the gene coding for glycerol kinase (GK) is located within this segment. A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency (GTD). The result of the present study and results of previous studies suggest that genes for ornithine transcarbamylase (OTC), DMD, and GK and putative genes responsible for congenital adrenal hypoplasia (AHC) and GTD are arranged from telomere to centromere as pter--GTD--AHC--GK--DMD--OTC--cen.

Adolescent↗
PubMed1988

Clinical and biochemical studies of Japanese neuronal ceroid-lipofuscinosis.

We studied clinical manifestations of Japanese patients with neuronal ceroid-lipofuscinosis (NCL). The onset of the disease and initial symptoms were almost identical to those reported previously in Caucasians. Japanese patients with NCL were not significantly clinically different from Caucasian cases. An atypical case NCL associated with a deficiency of diaminobenzidine peroxidase activity was also presented. Pathogenesis of NCL was studied on the basis of urine dolichol excretion, autofluorescent compounds in urine, thiol protease activities and protein analysis in tissues of NCL patients. Possible biochemical abnormalities in NCL are discussed.

Adolescent↗
PubMed1988

Treatment of hypopituitarism with recombinant somatropin for 1 year.

Twenty-five hypopituitary patients were treated with recombinant somatropin for 1 year at a dosage of 0.5 IU/kg/week. In previously untreated patients (n = 16), heights increased by between 4.5 and 10.2 cm, with a mean height velocity of 7.7 +/- 1.8 cm/year (mean +/- SD). In previously treated patients (n = 9), heights increased by between 3.9 and 7.6 cm, with a mean height velocity of 5.8 +/- 1.0 cm/year, similar to that observed during previous treatment with pituitary GH. Anti-GH antibodies were observed in two patients at a low titre. The antibodies disappeared in one patient during the treatment. These data indicate that recombinant somatropin has a growth promoting effect and low immunogenicity.

Adolescent↗