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Biomedical subjects

J Rapola

Publications and source records attributed to J Rapola.

At least 163 records · Page 9Linked to original sources
PubMed1980

Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine.

In lysinuric protein intolerance, a disease resulting from an autosomal recessive disorder of diamino acid transport, citrulline, unlike arginine and lysine, is absorbed normally from the intestine. In 19 patients with LPI, the status after 2 years of treatment with citrulline or citrulline + lysine was compared with that during the preceding period of treatment with arginine. Administration of citrulline led to improved protein nutrition, as indicated by increases in daily protein intake, blood hemoglobin values, and plasma albumin and valine concentrations. Normal excretion of orotic acid indicated adequate urea cycle function. Seven of the nine stunted children had marked catch-up growth. Of four patients biopsied twice and having initially severe fatty degeneration of the liver, two had improved histology. However, hepato- and splenomegaly, and several biochemical abnormalities in the serum remained unchanged. Giving additional lysine did not enhance the favorable effect, but in some patients provoked abdominal cramps and diarrhea. Citrulline is the most valuable agent for treatment of LPI. Although not curative, it corrects the deficiency of the urea cycle intermediates and protects the patients from hyperammonemia and its consequences.

Adolescent↗
PubMed1980

Fetal gonadal histology in XXXXY, XYY and XXX syndromes.

During a 3-year period in which 1500 amniotic fluid samples were studied, six cases of sex chromosome abnoramlity were detected antenatally: two with XXX, three with XYY and one with XXXXY sex chromosome constitution. After careful counselling, the parents in each case chose termination of the pregnancy, which was performed at the 20th week of gestation. All fetuses appeared normal and showed no gross malformations. Histologic investigation of the gonads of the XXXXY, one XYY and one XXX fetus showed a normal overall picture. The number of spermatogonia in the seminiferous tubules of the XXXXY male fetus was markedly reduced and the testes of the XYY fetus also contained less spermatogonia than testes from control fetuses.

Abortion, Induced↗
PubMed1980

Fibromuscular dysplasia in a child: a generalized arterial disease.

After slight prodromal symptoms a fourteen-year-old girl had epileptic convulsions followed by a right-sided hemiplegia. Carotid angiogram showed almost total occlusion of the left arteria cerebri media. Six weeks later she developed elevated blood pressure followed by convulsions and lowered consciousness. Abdominal aortic angiogram showed total occlusion of the left renal artery at its origin. After nephrectomy, the blood pressure returned to normal. Histological examination of the main branches of the renal artery revealed fibromuscular dysplastic changes. Renovascular hypertension and childhood idiopathic cerebral arterial disease might represent different aspects of the same process.

Adolescent↗
PubMed1980

Cell kinetics in the jejunal crypt epithelium in malabsorption syndrome with cow's milk protein intolerance and in coeliac disease of childhood.

Cell kinetics in the proximal jejunal epithelium were studied by the methods of Cairnie et al. and Wright et al. Seventeen children with untreated malabsorption syndrome and cow's milk protein intolerance (CMI) and 12 of these on a cow's milk free diet were compared with 47 children with untreated coeliac disease, with 15 of these on a gluten free diet, and with 15 controls. The total number of cells in the crypts of the patients with CMI was 1.8 times (P less than 0.001) and in patients with coeliac disease 2.4 times (P less than 0.001) that seen in the controls. During the elimination diet the total number of cells in the crypts returned to the level seen in the controls. The mitotic indices, both crude and corrected, were significantly higher (P less than 0.001) in untreated patients with CMI and those with coeliac disease than in the controls. During dietary treatment the indices fell, but not quite to the level of the controls. These small differences between the two groups may be due to the difference in the causative agents or to the different ages of the patients.

Adolescent↗
PubMed1980

Renal pathology in congenital nephrotic syndrome of Finnish type: a quantitative light microscopic study on 50 patients.

The quantitative histopathological analysis was performed on 68 renal specimens of 50 children with congenital nephrotic syndrome of Finnish type (CNF). Thirty five of samples were biopsies and 33 were taken at autopsy. The kidneys of the CNF children were 2-3 times larger by weight than those of normal children. The renal histological picture varied greatly from one patient to another. The glomeruli of the CNF patients showed more often fibrotic lesions and mesangial hypercellularity than those of the normal infants, while immature glomeruli were seen more frequently in the controls than in CNF children. Tubular atrophy and tubular dilatations were also common histological feature in the CNF children. Glomerular fibrosis and tubulo-interstitial changes showed significant progression during the course of the disease while mesangial cell proliferation did not increase with age. The decreased tubular cell mass was replaced by interstitial tissue in the kidneys of older CNF infants. The proportion of the total glomerular volume to the volume of the whole kidney was about the same in CNF as in normal children. Because of the greater kidney size in CNF the absolute volume of the total glomerular mass is increased in this disease.

Biopsy↗
PubMed1979

"Salla disease": a new lysosomal storage disorder.

Severe mental retardation, coarse facial features, clumsiness, and speech failure were common findings in three brothers and one female third-cousin of a family from northern Finland. All the patients had vacuolated lymphocytes in peripheral blood smears, and electron microscopy of fresh skin biopsy specimens showed abundant cytoplasmic inclusions in various types of cells of the skin. Eight lysosomal hydrolases were assayed in peripheral blood lymphocytes and cultured skin fibroblasts, but no enzyme deficiency was detected. Urinary excretion of mucopolysaccharides, amino acids, glycoasparagines, and oligosaccharides was normal. Clinical findings, course of the disease, and the presence of cytoplasmic inclusions, indicating lysosomal storage phenomenon, suggest that the patients suffer from a genetic lysosomal storage disorder not described earlier. The eponym "Salla disease" was introduced, referring to the geographically restricted area where the family resides.

Adult↗
PubMed1979

Microscopic hematuria in school children: epidemiology and clinicopathologic evaluation.

An unselected population of 8,954 children, age 8 to 15 years, was screened for hematuria. Four urine specimens from each were examined; microscopic hematuria was found in one or more specimens in 4.1%, and in two or more specimens in 1.1% of the children. The prevalence was not age or sex dependent. Those with two or more positive samples were re-examined twice during a half-year period: 33 had hematuria of 6 or more RBC/0.9 mm3, or more than 100,000 RBC/hour, on both occasions; renal biopsy performed on 28 of them revealed two cases of IgA-IgG nephropathy, one of focal segmental sclerosis, one of extracapillary glomerulonephritis, and one of possible hereditary nephritis. In 12 patients the biopsy was entirely normal; the rest showed equivocal changes. Co-existing proteinuria and the degree of hematuria correlated well with the severity of the morphologic alterations. Pathologic findings in microscopic hematuria seem to be less frequent than in hematuria in general; in most such patients, renal biopsy is probably not indicated. In some children the low-grade hematuria may merely represent the upper end of physiologic variation.

Adolescent↗
PubMed1979

Diagnosis of Hirschsprung's disease.

A prospective study of the accuracy of various diagnostic methods used in the detection of Hirschsprung's disease (syn. congenital intestinal aganglionosis, CIA) in 60 consecutive infants and children was done during the period 1972--76. Every patient underwent a barium enema, a rectal mucosal biopsy, which was prepared for both the demonstration of ganglia and for the assessment of acetylcholinesterase activity (ACE), and anal manometry was performed. In evaluating the clinical history, special emphasis was placed on signs of neonatal ileus. In the group of 10 patients with a definite diagnosis of CIA the results were almost uniform. In the 'non-CIA' group the search for ganglia in biopsy material proved non-confirmatory in nearly half of the cases studied due to the fact that specimens were taken too superficially. The findings pertaining to ACE, barium enema and the results of manometry were at variance or inconclusive of a final diagnosis in 10, 16 and 22% of the performed studies, respectively. The value given to neonatal history proved to be of the same order, i.e., 20% proved to be falsely positive.

Acetylcholinesterase↗
PubMed1979

Capillary circulation and morphology in Duchenne muscular dystrophy.

Muscle blood flow (MBF) and capillary diffusion capacity (CDC) were determined in 8 patients with Duchenne muscular dystrophy and 5 age-matched control males by measuring the simultaneous clearance of 133Xe and 131I-. MBF was significantly decreased in older patients with severe dystrophy: 35.1 +/- 5.8 ml/100 g/min in 4 advanced Duchenne patients and 45.8 +/- 6.5 ml/100 g/min in controls (p less than 0.005). MBF in 4 early cases did not differ from controls (44.0 +/- 7.9 ml/100 g/min). There was no significant difference in CDC in Duchenne patients and controls. No structural abnormalities in muscle microvasculature were found by light microscopy. In the electron microscope, the Duchenne basement membranes had duplicated or multiple layers of electron-dense material in 63.9% of muscle capillaries while only 6.6% of the control capillaries showed this. These results do not support an ischemic etiology of Duchenne muscular dystrophy.

Adolescent↗
PubMed1979

Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle.

We studied 21 patients with gyrate atrophy of the choroid and retina and hyperornithinemia. Although the patients were not weak, type 2 muscle fibers were almost universally atrophic and had tubular aggregates. Gyrate atrophy is the first disease in which females are shown to have tubular aggregates; the sexes were affected equally. In gyrate atrophy the number of type 2 fibers decreases with age. The muscle and eye changes are probably related to abnormal creatine synthesis, caused, in gyrate atrophy, by the increased body pool of ornithine; muscle abnormalities may also be present in other tapetoretinal dystrophies.

Adolescent↗
PubMed1979

[Muscle biopsy].

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Biopsy↗