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Biomedical subjects

J Rapola

Publications and source records attributed to J Rapola.

At least 91 records · Page 5Linked to original sources
PubMed1989

Kidneys in Meckel's syndrome as a model of abnormal renal differentiation.

Kidneys of nine human fetuses of 16-22 weeks of gestational age with Meckel's syndrome were studied. All kidneys were grossly enlarged and cystic. The morphological picture is appreciably different form the kidneys of full term infants with the same syndrome. All kidneys showed distinct subcapsular nephrogenic zone from which the cysts arise. The cyst wall retains characteristics that recall its origins from preformed nephrons and collecting ducts, as can be demonstrated histologically and with lectin and antibody markers. Studies on abnormal fetal kidneys when combined with segment-specific molecular markers of the nephron are invaluable in unraveling the pathogenesis of the various types of human cystic renal diseases.

Biomarkers↗
PubMed1989

Congenital and infantile nephrotic syndromes.

A nephrotic syndrome which appears during the first few months of life always provides a diagnostic challenge. Congenital nephrosis of the Finnish type (CNF) is a distinct, recessively inherited entity provided that the diagnostic criteria are kept strict. Very important but often forgotten is the presence of a large placenta. Among other alterations tubular dilatations are typical histological findings, even if not pathognomonic. Greatly elevated AFP concentration in the amniotic fluid, due to intrauterine proteinuria, offers an unfailing prenatal diagnosis in CNF but is seldom useful in other types. Renal transplantation has radically changed the prognosis of this otherwise lethal disorder. The histopathological diagnosis diffuse mesangial sclerosis (DMS) was supposed to represent another etiological entity, probably also autosomal recessive. It, however, seems to be heterogenous. The Drash syndrome (nephrotic syndrome, male pseudohermaphroditism and Wilms' tumor) has interesting connections with this group. The number of cases of congenital, infantile and/or familial nephrotic syndromes other than CNF and DMS seems to be surprisingly large. Their exact classification is still not possible. Even if late, "infantile" onset rules out the diagnosis of CNF, many etiological alternatives remain for the "congenital" cases.

Child, Preschool↗
PubMed1989

Gene deletions in X-linked muscular dystrophy.

Of the approximately 170 families with X-linked muscular dystrophy of the Duchenne (DMD) and Becker (BMD) type in Finland, we have studied 90 unrelated patients for intragenic deletions by using the cDNA probes described by Koenig et al. Forty-five patients (50%) had molecular deletions of one or several of the 65 exon-containing HindIII fragments. In six deletion cases junction fragments of altered size were seen. Thirty-eight (84%) of the 45 deletions were detected using only two (1-2a and 8) of the six cDNA subclones. Using a wheelchair age of 12 years to distinguish between DMD and BMD, we found that the proportions of patients with deletions were similar. Deletions were equally common in familial and sporadic disease. BMD was more commonly caused by deletions in the 5' end of the gene than was DMD. In at least three instances deletions of similar type resulted in diseases of similar severity. Of 14 patients with mental retardation seven had deletions; six of these comprised exons contained in probe 8. We conclude that cDNA hybridization studies provide a powerful diagnostic tool in DMD and BMD and that they promise to produce better insights into molecular-clinical correlations.

Chromosome Deletion↗
PubMed1988

Chronic osteomyelitislike disease with negative bacterial cultures.

During a seven-year period we observed 14 children who had chronic osteomyelitislike disease. The bacterial cultures from the bone lesions were negative. In eight patients the findings were compatible with chronic recurrent multifocal osteomyelitis (CRMO), in four the findings were compatible with chronic sclerosing osteomyelitis of Garré, and two had osteomyelitis of the clavicle. In patients with CRMO, lymphocyte subpopulations, the responses to mitogens, and the chemotactic and chemokinetic responses showed no consistent abnormalities. After a mean follow-up of 4.5 years (range, one to ten years), all four patients with osteomyelitis of Garré were symptomatic, and two had complications. Only two of the eight patients with CRMO had active disease. The course had been complicated by growth disturbances in one patient and by thoracic outlet syndrome in another. Wegener's granulomatosis later developed in a patient with CRMO.

Adolescent↗
PubMed1988

Placental pathology and prenatal diagnosis of infantile type of neuronal ceroid-lipofuscinosis.

Five term placentae from pregnancies at risk of infantile neuronal ceroid-lipofuscinosis (INCL) were studied electron-microscopically to determine if diagnostic cytoplasmic inclusions could be detected in this tissue. In 4 placentae no inclusions were found, and the infants born from these pregnancies have developed normally, the shortest observation time being 15 months. In the fifth placenta numerous cytosomes pathognomonic of INCL were found in the amniotic cells and the endothelium of the capillaries of the chorionic villi. The diagnostic significance of this finding was confirmed by the presence of typical inclusions in the autonomic ganglion cells and other cells in a rectal mucosal biopsy specimen of this male infant at the age of 3 months. Electron microscopic study of chorionic villus biopsy specimens appears to be a promising possibility for prenatal diagnosis of INCL.

Chorionic Villi↗
PubMed1988

Effect of repeated endotoxin treatment and hypercholesterolemia on preatherosclerotic lesions in weaned pigs. Part II. Lipid and glycosaminoglycan analysis of intima and inner media.

We compared the effects of mild hypercholesterolemia and repeated endotoxin infusions on the biochemical composition of aortic intima and inner media of 24 piglets divided into 4 groups 5 days after weaning: controls on normal diet (group I); normal diet and endotoxin (group II); fat-supplemented diet (group III); and fat-supplemented diet and endotoxin (group IV). It was found that mild hypercholesterolemia increased the concentration of arterial esterified cholesterol and the relative amount of the fraction containing chondroitin sulphates A and C in total glycosaminoglycans. Endotoxin infusions partly prevented the increase of serum cholesterol caused by the fat-supplemented diet but had no independent effect on the arterial biochemical composition; nor did they affect the biochemical changes caused by hypercholesterolemia. When the results of all groups were combined, chondroitin sulphates A and C showed a significant positive correlation with the concentration of arterial esterified cholesterol and the percentage of linoleic acid in arterial cholesteryl esters. Serum total cholesterol did not correlate with arterial cholesterol fractions, but the ratio of high density lipoprotein-cholesterol to total serum cholesterol showed a negative association with arterial esterified cholesterol. The present findings indicate that (1) mild hypercholesterolemia is atherogenic in young piglets, and (2) changes in arterial glycosaminoglycan composition might be one of the earliest biochemical alterations in atherogenesis.

Animals↗
PubMed1988

Pathology of congenital nemaline myopathy. A follow-up study.

This study was undertaken to review the development over 5-18 years of pathologic changes in 13 patients (4 male and 9 female) with congenital nemaline myopathy. Follow-up biopsies were compared with earlier biopsies and with published normal values as to quantity and location of nemaline bodies, secondary signs of myopathy, and in 6 patients as to muscle fiber type and size. Biopsy findings were correlated with the mobility and muscle power of the patient. The main differences in myofiber maturation in the patients as compared with normal myofiber maturation were: (1) deficient differentiation of type 2 fibers, (2) further increase of variation in fiber size with age, and (3) skewing in early adulthood of fiber size distribution curves toward the atrophic end. In ambulant patients, this skew seemed to be compensated with a population of hypertrophic fibers. The nemaline bodies tended to be located beneath the sarcolemma in the younger patients and inside the muscle fibers in the older patients. The quantity of nemaline bodies seemed to have increased with age. The clinical deterioration and the defective myofiber maturation in the patients together with an increase in internal nuclei and endomysial fat or fibrosis indicate an active disease process. This speaks against the generally held view that congenital nemaline myopathy is static.

Adolescent↗
PubMed1988

High-frequency ultrasonography of skeletal muscle in children with neuromuscular disease.

Ultrasonography of the thigh and calf was performed in 24 children who had primary neuromuscular disease and in 20 healthy children. The ultrasound image was clearly abnormal in all patients with progressive muscular dystrophy, and in the majority of children with benign myopathic disorders; the principal changes were increased muscular echogenicity and increased attenuation of ultrasound with a reduced bone surface echo. In 13 patients, the ultrasound findings were correlated with pathologic changes seen in muscle biopsy specimens: a clear correlation (r = .85) was found. Muscular dystrophies had a higher score of abnormal ultrasonographic and microscopic findings, while the more benign muscular diseases had a lower score.

Adolescent↗
PubMed1988

Haemodynamic effects of atenolol and bopindolol at rest and during isometric exercise. A non-invasive study in healthy volunteers.

Circulatory effects of bopindolol, a new nonselective beta blocking agent with intrinsic sympathomimetic activity and atenolol were compared. After baseline and first dose measurements atenolol 25 mg twice daily and bopindolol 1 mg daily were given to 10 healthy young subjects. Haemodynamic measurements were made noninvasively using echocardiography and systolic time intervals. Clinical and circulatory indices were measured at baseline, after initial dose and after one week of regular treatment at rest and at isometric handgrip exercise (IE) (HG). Atenol reduced the heart rate from 62 bpm to 49 and blunted totally the HR increase during IE (p less than 0.01). Bopindolol caused a 10% fall in heart rate (NS) at rest and a 15% fall (p less than 0.05) during IE. BP fell by 6% after atenol administration and 4% after bopindolol (NS) at rest and similarly during IE. In contrast to bopindolol, atenolol caused small increases initially in left ventricular end-diastolic dimension (LVEDD) and left ventricular end-systolic dimension (LVESD). A 10% increase in FS was seen at rest after bopindolol administration (NS). With the fall in heart rate the estimated cardiac output (CO) also fell from 3.66 to 3.151/min (P less than 0.05) after atenolol but rose from 3.87 to 3.93 after bopindolol (NS) during chronic treatment. Consecutively the total peripheral resistance (TPR) was increased to some extent by atenolol, whereas bopindolol reduced it at rest and during IE. A similar response was also found in systolic time intervals PEP/LVET which were reduced during bopindolol administration.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenergic beta-Antagonists↗
PubMed1988

Polycystic kidney disease. Morphological diagnosis of recessive and dominant polycystic kidney disease in infancy and childhood.

Histological findings in 75 children with polycystic kidney disease were analysed. The patients had been divided into recessive (RPKD), dominant (DPKD), and sporadic cases on the basis of family investigations. The histological findings in the patients with RPKD and DPKD were compared with each other in order to define criteria for classification of the sporadic patients. The kidneys of the neonatally-deceased patients with RPKD (26 patients) and DPKD (4 patients) were macroscopically very similar. On histological investigation, all patients with RPKD (32 patients) showed cysts derived from the collecting ducts. In DPKD, the cyst epithelium was more variable, and the presence of glomerular cysts served as a useful histological marker of this disorder. In RPKD there was diffuse biliary dysgenesis, in contrast to the normal liver in the neonatally-deceased DPKD patients. However, one DPKD patient who survived also had biliary dysgenesis. Using the observed differences between RPKD and DPKD as criteria, all sporadic patients with satisfactory histological material could be classified as RPKD. We conclude that the differential diagnosis between RPKD and DPKD can be based on kidney and liver histology.

Adolescent↗
PubMed1987

Non-Hodgkin's lymphomas in childhood. A clinicopathologic and epidemiologic study in Finland.

All cases diagnosed in Finland as non-Hodgkin's lymphoma (NHL), Hodgkin's disease or histiocytosis X in children younger than 15 years in 1953 to 1973, according to the Finnish Cancer Registry, were reexamined histologically. Only 55% of the cases originally diagnosed as NHL were regarded as such at reexamination. The others were mainly malignant nonlymphatic tumors such as neuroblastoma and different kinds of sarcomas. Seventy-two NHLs were diagnosed in 50 boys and 22 girls. The corrected age-specific incidence rate was 0.32/10(5). The most common histologic types were Burkitt's lymphoma (BL) (30 cases), lymphoblastic lymphoma (LBL) (26), large cell lymphomas (LCL) (six), and non-Burkitt's lymphoma (n-BL) (three). There were marked differences between BL and LBL in the course of the disease: BL was extranodal in 83%, LBL only in 4% (mediastinum was regarded as nodal); BL showed initial abdominal or pelvic involvement in 60% whereas LBL showed none; BL had initial mediastinal involvement in 7%, and LBL had it in 62%; all patients with LBL died whereas 23% of those with BL survived. Other types of NHL resembled BL in their course of disease. Patients with initial tonsillary involvement appeared to have the best prognosis and patients with mediastinal involvement the poorest. The importance of accurate histologic classification is emphasized. It appears to be most important to differentiate LBL from other types of NHL.

Actuarial Analysis↗
PubMed1987

Congenital nephrotic syndrome.

Congenital nephrotic syndrome (CNS) is an uncommon disorder. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The problems associated with nephrotic syndrome in early infancy are divided into three parts: diagnosis, treatment and prenatal diagnosis. Accurate diagnosis is essential for the treatment, genetic counselling and prenatal diagnosis. The ultimate curative treatment of CNS is renal transplantation. The supportive treatment before the transplantation is of utmost importance in order to maintain a reasonable clinical condition and prepare the child for the dialysis and renal transplantation. Prenatal diagnosis is possible in some types of CNS by determination of the maternal serum and amniotic fluid alpha-fetoprotein (AFP). Increased AFP indicates fetal proteinuria, and thereby nephrotic syndrome before birth. In some cases with the onset of proteinuria after birth prenatal AFP measurement does not detect the disease.

Female↗
PubMed1987

Effect of repeated endotoxin treatment and hypercholesterolemia on preatherosclerotic lesions in weaned pigs. Part 1. Scanning and transmission electron microscopic study.

Endothelial cell damage is considered to be the primary event in atherogenesis. In this study we compared the effects of mild hypercholesterolemia and repeated E. coli endotoxin infusions on the endothelial cells of the coronary arteries of the pig. We divided 24 pigs into 4 groups: I: controls on normal diet; II: normal diet and endotoxin treatment; III: fat-supplemented diet; IV: fat-supplemented diet and endotoxin treatment. The animals on a fat-supplemented diet showed the most frequent and most severe endothelial cell damage. The damage was less when this diet was combined with endotoxin treatment. Endotoxin reduced the serum total cholesterol level (P less than 0.01). The cholesterol level correlated very significantly (P less than 0.001) with endothelial damage of the coronary arteries. Mild hypercholesterolemia (s-cholesterol 5.68 mmol/l, controls 2.28 mmol/l) was thus associated with toxic effects in the endothelial cells. The E. coli endotoxin infusions did not have any cumulative effect on the lesions.

Animals↗
PubMed1987

Synaptophysin--an immuno-histochemical marker for childhood neuroblastoma.

Synaptophysin, an integral membrane glycoprotein of presynaptic vesicles, was tested as an immuno-histochemical marker for childhood neuroblastoma. Synaptophysin immuno-reactivity was found in all neuroblastomas (6/6), but not in the other small round-cell tumors to be considered in its differential diagnosis. Thus, rhabdomyosarcomas (0/5), lymphomas (0/4), or Ewing's sarcomas (0/2) were negative for synaptophysin. The results suggest that synaptophysin is a useful marker for neuroblastoma, and it should belong to the marker panel used for the differential diagnosis of small round-cell tumors of childhood.

Adult↗