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Biomedical subjects

O Nose

Publications and source records attributed to O Nose.

At least 55 records · Page 3Linked to original sources
PubMed1982

Organic acid metabolism in a patient with ornithine transcarbamylase deficiency.

Serum and urinary organic acids in a 9-year-old girl with ornithine transcarbamylase deficiency were investigated. The urinary excretion of alpha-ketoglutarate (alpha-KG) and citrate were abnormally high. An inverse linear correlation was found between the plasma ammonium and alpha-KG levels when the plasma ammonium level was less than 200 micrograms/dl, but not at higher levels, suggesting that on overloading with ammonium, its route of metabolism and compensating mechanism are not functionally normal. After administration of NH4Cl, plasma and urinary levels of alpha-KG, pyruvate and citrate increased, but the urinary succinate level decreased slightly. After oral administration of citrate the plasma alpha-KG level increased and the ammonium level decreased transiently. Our results suggest that administration of citrate or alpha-KG is not effective for reducing hyperammonemia in ornithine transcarbamylase deficiency.

Ammonia↗
PubMed1982

Failure of p-aminobenzoic acid screening test to diagnose pancreatic insufficiency in Shwachman's syndrome.

The 6-h urine recovery of p-aminobenzoic acid (PABA) following the administration of a standard dose of N-benzoyl-L-tyrosyl-p-aminobenzoic acid (BTPABA) was performed in 13 control subjects and two siblings with Shwachman's syndrome. The control subjects showed a recovery of 67 +/- 12.1% (mean +/- 1 SD) of the administered dose, consistent with previously reported values. Unexpectedly, the recovery of PABA in two siblings with Shwachman's syndrome was found to be 67 and 63%, respectively. The values are well within the normal range. In these siblings, fecal chymotrypsin activities were very low when measured with N-acetyl-L-tyrosyl-ethyl ester (ATEE) as substrate, but were normal when BTPABA was the substrate. The duodenal juice of the younger affected child following pancreozymin-secretin stimulation showed very low chymotrypsin activity against ATEE, BTPABA, and N-benzoyl-L-tyrosyl-ethyl ester. These findings suggest that there may be BTPABA-splitting activity in the lower bowel of these siblings with Shwachman's syndrome. This activity might be that of enteric bacteria or of the intestinal mucosa.

4-Aminobenzoic Acid↗
PubMed1982

Radioimmunoassay of "free thyroxin" in dried blood spots on filter paper - preliminary observations on the effective differentiation of subjects with congenital hypothyroidism from those with subnormal thyroxin-binding globulin and normal subjects.

In this sensitive, simple method for measuring "free thyroxin" (FT4) in eluates of dried blood spots on filter paper by use of a radioimmunoassay kit (Amerlex Free T4 RIA), the measurable range of FT4 is 1.8 to 57 ng/L (equivalent to the concentration in serum), or 7 to 237 fg/tube. The mean coefficients of variation for within assay-within spots, within assay-between spots, and between assays were 5.3%, 5.0%, and 6.2%, respectively. FT4 in blood spotted on filter paper is stable for at least a month when dried and kept at either -20 degrees C, 4 degrees C, room temperature (about 25 degrees C), or 37 degrees C. The results for FT4 in dried blood spots correlated closely with the free-T4 concentration in serum (r = 0.99). The method can be used to differentiate cases of primary and secondary hypothyroidism from normal subjects and those with subnormal thyroxin-binding globulin. This method may be useful in screening for congenital hypothyroidism, because sample-retesting is not necessary.

Adolescent↗
PubMed1980

Watery diarrhoea with a vasoactive intestinal peptide-producing ganglioneuroblastoma.

An 8-month-old boy with persistent watery diarrhoea and failure to thrive developed abdominal distension, hypokalaemia, and flushing of the face and trunk. A high concentration of vasoactive intestinal peptide-like immunoreactivity was found in the serum. Soon after resection of a suprarenal mass, the serum level of vasoactive intestinal peptide became normal and the diarrhoea stopped. Histologically the tumour was a ganglioneuroblastoma: the cells showed fluorescence by the indirect immunofluorescence technique with anti-vasoactive intestinal peptide serum. Electron microscopical examination showed abundant secretory granules in the tumour cells. Reports of chronic watery diarrhoea in children due to neural crest tumours are reviewed, with particular respect to the clinical features of the syndrome.

Abdominal Neoplasms↗
PubMed1979

Seasonality of birth in sporadic cretinism.

The seasonal distribution of birth dates of 31 patients with sporadic cretinism due to thyroid dysgenesis was analyzed in Osaka area for 14 years. The incidence was statistically high in the summer months. A hypothesis that some environmental factors such as viral infection may cause the disease is proposed.

Birth Rate↗
PubMed1979

A case of mucolipidosis II: biochemical, nutritional, and immunological studies.

A case of mucolipidosis II was studied biochemically, nutritionally and immunologically. A possible functional deficiency of T cells was observed, but discrepancy between B cells and immunoglobulin content was not reasonably explained at this moment. There was no basic nutritional problem in this case and it is more likely that his growth retardation was due to frequent episodes of severe respiratory infection because he received adequate calorie intake with low normal basal metabolic rate. Results of enzymatic assays were also presented.

Basal Metabolism↗
PubMed1979

Transient infantile hyperthyrotropinaemia. Report of a case.

A case of transient hyperthyrotropinaemia was found by mass screening for neonatal hypothyroidism using the paired TSH assay method. The patient was a baby boy born at term after a normal pregnancy who grew without any abnormal signs or symptoms. For the first 7 months after birth, his serum TSH was abnormally high while his total serum T4, T3, and free T4, T3 were within normal limits, exept for slightly low free T4 level at 7 months. The raised serum TSH decreased spontaneously to within normal limits after he was 9 months old.

Humans↗
PubMed1979

Breath hydrogen test for detecting lactose malabsorption in infants and children. Prevalence of lactose malabsorption in Japanese children and adults.

The breath hydrogen test (BHT) was adapted for use in young infants and children. The diagnostic criterion of sugar malabsorption in the BHT was determined by oral administration of 0.5 g/kg of unabsorbable sugar (lactulose) to 21 healthy infants and children. A maximum increase in breath hydrogen less than 0.05 ml/min per m2 was observed in all subjects. A good correlation between results by the BHT and by the ordinary lactose tolerance test was obtained after oral administration of 2 g/kg lactose to 21 healthy infants and children, 2 congenital lactase-deficient infants, and 7 adults. Using this test, 80 healthy Japanese infants and children (aged between one month and 15 years) and 18 adults were examined for lactose malabsorption after a dose of 1 g/kg lactose. All infants and children under 2-years old absorbed lactose completely. The incidence of lactose malabsorption was 30% in 3-year, 36% in 4-year, 58% in 5-year, and 86% in 6-year-old children, 85% in schoolchildren, and 89% in adults. Thus the incidence of lactase deficiency gradually increases with age from 3 years, and about 90% of all normal Japanese adults are lactase-deficient.

Adolescent↗