Search PubMed⌕ Search

Biomedical subjects

J Rapola

Publications and source records attributed to J Rapola.

At least 127 records · Page 7Linked to original sources
PubMed1984

Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment.

We present 14 familial cases from five Finnish families affected with a life-threatening congenital diaphragmatic defect (CDD) and review data on 53 previously published familial cases. CDD occurred in three sibs and their half brother's son, and probably in all four offspring of parents consanguineous as both first and second cousins. In the remaining three Finnish families and in the vast majority of the previously reported familial cases, only two sibs were affected. Two thirds of those affected were males both in the Finnish and the overall series. Pedigree data, delayed fusion of the diaphragm as the primary pathogenetic mechanism, varying anatomical structure of the defective hemidiaphragm, association with other congenital anomalies, and data on animal experiments are more in accordance with multifactorial determination than with recessive inheritance. This does not exclude other genetic causes in some familial cases. The recurrence risk for sibs after one affected sib is about 2%. As the prognosis, especially in familial cases of CDD has remained grave, the development of fetal surgical treatment is desirable. This emphasizes the future role of prenatal diagnosis by ultrasound.

Consanguinity↗
PubMed1984

Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.

The prenatal diagnosis of aspartylglucosaminuria (AGU), a lysosomal storage disorder of glycoprotein degradation, was made by demonstrating the deficiency of N-aspartylglucosaminidase on cultured cells from a midterm amniotic fluid sample. Four other amniotic fluid studies from at-risk pregnancies gave a normal or a heterozygote level of enzyme activity. These pregnancies have gone to term and the delivery of healthy babies. The pregnancy with the affected fetus was terminated and the prenatal diagnosis was verified by enzyme assays on cord blood lymphocytes, cultured cells from skin biopsy, and from placental villi. Electron microscopic evidence of lysosomal storage was seen in several organs of the fetus with the notable exception of the central nervous system. The undifferentiated mesenchymal fibroblasts particularly were heavily loaded with cytoplasmic inclusions in skin, liver, kidney, and placenta.

Acetylglucosamine↗
PubMed1984

Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses.

Rectal mucosa obtained by suction biopsy from 17 patients with infantile-type neuronal ceroid lipofuscinosis (NCL) and from 31 patients with juvenile-type NCL was studied histologically and electron microscopically. In specimens from both types of NCL the lamina propria of the mucosa contained abundant large macrophages, demonstrating positive histochemical reactions for ceroid and lipofuscin. On electron microscopy the macrophages were shown to be filled with cytosomes containing the storage material. In infantile NCL the storage material was amorphous and granular, with only occasional short membranous structures. In juvenile NCL the storage material formed approximately equal amounts of curvilinear profiles and fingerprint profiles. Typical inclusions were found in the capillary endothelial cells, Schwann cells, and smooth cells as well as in macrophages in both types of NCL. In two patients juvenile NCL was diagnosed from the biopsy before the appearance of any neurologic symptoms. It is concluded that morphologic investigation of the easily obtained rectal suction biopsy specimen is a reliable diagnostic method in these types of NCL. It is also useful in screening non-symptomatic patients at risk for NCL and in follow-up studies, when necessary.

Age Factors↗
PubMed1984

Pathology of fetal congenital nephrosis: immunohistochemical and ultrastructural studies.

The kidneys of four human fetuses aged 18 to 20 weeks of gestation with congenital nephrosis of the Finnish type (CNF) were studied by immunohistochemistry and electron microscopy to elucidate the pathogenesis of the disease. The immunohistochemical stainings for laminin, type IV collagen, fibronectin, brushborder antigens (BBA), Tamm-Horsfall protein (TH), and binding of wheat germ agglutinin (WGA) did not reveal changes as compared to the age-matched control kidneys. Proximal tubules of the CNF kidneys showed excessive accumulation of coarse granular alpha fetoprotein (AFP) and large absorption droplets with paracrystalline and membraneous structures were seen in electron microscopy. The dilated tubules were both of proximal and distal origin as judged from the BBA and TH stainings. It is suggested that the formation of the dilated tubules results from degeneration caused by obstruction and excessive protein loading of the tubular epithelium. Demonstration of the coarse granular AFP in the proximal tubular epithelium and lumina indicates heavy fetal proteinuria and serves as an additional diagnostic marker for prenatal CNF.

Female↗
PubMed1984

Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients.

A total of 16 children with Shwachman's syndrome were studied over a period of 17 years. Eight cases were detected in autopsy at 6 to 15 months; all had died of cardiac failure due to myocardial lesions. The left ventricles showed necrosis of myofibres in large areas and the pancreas was atrophic and replaced by adipose tissue. The other eight patients included two siblings of deceased cases. Only one of these showed transient cardiac failure and no significant nutritional deficiencies were found. They had steatorrhoea due to failure of the exocrine pancreas and either constant (6 cases) or cyclic (2 cases) neutropenia. The steatorrhoea improved with age. Pyogenic infections, mainly otitis media were frequent during the first three years of life. Measurements of humoral and cell-mediated immunity were normal, but in addition to low numbers of neutrophils, the neutrophilic chemotaxis was depressed in all seven patients tested. Skin lesions, hepatic inflammation, and growth tended to improve with age. The family data of the patients is consistent with an autosomal recessive trait inheritance.

Agranulocytosis↗
PubMed1984

Orbital granulocytic sarcoma as a presenting sign in acute myelogenous leukemia.

A 3-year-old boy presented with a marked right exophthalmos of a few days duration. This was due to a retrobulbar granulocytic sarcoma that was subtotally removed at a lateral orbitotomy. Subsequent studies revealed acute myelogenous leukemia (AML) of FAB-type M2. The orbital tumor disappeared totally after local irradiation and cytostatic treatment. Another granulocytic sarcoma developed 3 months later in the left orbit. It disappeared also during repeated cytostatic induction therapy although only transient hematologic remission was achieved. After 1 month a recurrence of the tumor in the left orbit was noted. The disease progressed without response to treatment and the patient died 11 months after diagnosis.

Child, Preschool↗
PubMed1984

Abnormal collagen fibrils in aspartylglycosaminuria. Altered dermal ultrastructure in a glycoprotein storage disorder.

Patients with aspartylglycosaminuria, a lysosomal storage disorder of glycoprotein degradation, express connective tissue signs that refer to impaired mechanical properties of the tissue. We studied the ultrastructure of the dermis of patients with aspartylglycosaminuria to detect possible alterations in the connective tissue matrix, alterations that could explain the clinical findings. The organization of fiber bundles was studied by light microscopy and scanning electron microscopy, and diameters and volume densities of individual collagen fibrils were measured. The histologic organization of the dermis in patients with aspartylglycosaminuria was normal. However, by scanning electron microscopy a looser organization and more irregular orientation of the fiber bundles were detected. Transmission electron microscopy revealed a strikingly abnormal variation in the diameters of individual collagen fibrils (from 20 to 160 nm) in all layers of the dermis, with slight irregularity of shape especially in the thickest fibrils. Occasional giant fibrils (greater than 200 nm) were observed. The distribution of the ruthenium red-positive material around the fibrils was normal. Ultrastructural changes similar to these have been found in the collagen fibrils of some patients with Ehlers-Danlos syndrome as well as certain other disorders affecting dermal connective tissue. Altered collagen fibril formation offers an explanation for the connective tissue lesions in aspartylglycosaminuria.

Acetylglucosamine↗
PubMed1983

Early prenatal detection of diastrophic dysplasia.

Diastrophic dysplasia, an autosomal recessive disorder, results in severe short-limbed dwarfism, progressive spinal and joint problems, and secondary psychosocial disability. The results of treatments are unsatisfactory. Four pregnant mothers at risk for an affected fetus were studied with an ultrasound scanner at 16 and 19 weeks of gestation. Each mother had a previous child with diastrophic dysplasia. The biparietal distance and the length of the long bones of the extremities were normal in three fetuses, whereas in one fetus there was a 30 per cent shortening of all long bones. The biparietal distance corresponded with the gestational age in all fetuses. In one fetus, diastrophic dysplasia was confirmed by fetoscopy and fetal radiograph at 19 weeks of gestation after the parents had decided to terminate the pregnancy. The skeletal radiograph and autopsy findings of the fetus verified the diagnosis. All other mothers were followed with repeated ultrasound examinations, and they delivered healthy babies. The retrospective follow-up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios. These complications were, however, mild and transient, and they could not be regarded as specific for pregnancies with affected fetuses.

Abnormalities, Multiple↗
PubMed1983

Antenatal screening for congenital nephrosis in Finland by maternal serum alpha-fetoprotein.

In the Kuopio and North-Karelia districts of Finland 10724 pregnancies were screened for congenital nephrosis by maternal serum alpha-fetoprotein (AFP) measurement. Outcome was known for 10504 (98%) pregnancies, of which 509 (4 X 8%) had a serum AFP level greater than or equal to 2 X 5 multiples of the normal median (MoM) at 15-18 weeks gestation. After exclusion of those women who had a normal serum AFP level (less than 2 X 5 MoM) in a second sample, 'wrong dates' or multiple pregnancy, 267 (2 X 5%) remained with a high serum AFP level. Amniocentesis was carried out in 225 (2 X 1%) and 16 women had an amniotic fluid AFP level greater than 10 SD above the normal mean. In this group there were six fetuses with congenital nephrosis (four confirmed and two suspected), six other serious malformations (including an intrauterine death) and four without obvious abnormality. In the 98% pregnancies followed up there were no infants with congenital nephrosis that had been missed. Babies with congenital nephrosis require permanent hospitalization and have a mean survival of 8 months. In Finland, within certain areas, the birth prevalence is as high as 1 in 2600 per year. In such areas maternal serum AFP measurement appears to be a useful method of screening for congenital nephrosis. The service was also well accepted since 94% of the women with raised serum AFP levels wished to be screened again in a future pregnancy.

Amniocentesis↗
PubMed1983

Causes of stillbirth: a clinicopathological study of 243 patients.

The clinical and autopsy findings in all stillbirths during the years 1974-1979 at the Helsinki University Central Hospital were analysed. There were 243 stillborn infants of whom 200 died before labour. According to the autopsy findings asphyxia accounted for 38% and major malformations for 17% of the deaths, but because of fetal maceration no diagnosis could be made at autopsy in 43%. The cause of death suggested by the clinical findings was placental failure in 57%, cord complication in 12% and major malformations in 17%. The cause of death remained unsolved in 9%. The importance of routine ultrasound and alpha-fetoprotein screening for the detection of unrecognized risk patients is emphasized.

Asphyxia Neonatorum↗
PubMed1983

Causes of neonatal deaths in a pediatric hospital neonatal unit. An autopsy study of a ten-year period.

A study is presented of 1020 consecutive autopsies on newborn infants who died during the first 28 days of life at the Children's Hospital, University of Helsinki, during 1969-1978. The infants were grouped into four categories according to their weight at birth and into early (0-7 days) and late (8-28 days) neonatal groups according to their age at death. 77.5% of the cases fell into the early neonatal group. The most common causes of death were hyaline membrane disease (HMD) and cerebral haemorrhage (CH), which together accounted for 41.9% of all the deaths. Congenital anomaly was the second most common group of causes, comprising 35.3% of the cases. A gradual fall in the total number of deaths was conspicuous during the ten-year period. There was a statistically significant decrease in the number of deaths from HMD and CH in the weight categories 1001-1500 g and 1501-2500 g. The fall is considered to reflect improvement in both obstetrics and neonatal medicine.

Autopsy↗
PubMed1983

Renal cysts in pediatric autopsy material.

In a series of 6,521 consecutive autopsies of infants and children, renal cysts were found in 136 cases (2%). Of these, 71 were females and 65 males; 103 patients had died in their first month of life. The different types of cystic disease represented were as follows: renal cystic dysplasia 65, cortical cysts in syndromes of multiple malformations 42, polycystic disease 16, simple cortical cysts 7, renal cysts in hereditary syndromes 3, and renal medullary cystic disorders 3. Extrarenal malformations were encountered in 102 of the 136 cases with renal cysts. Gastrointestinal malformations and in particular esophageal atresia very often appeared to be associated with renal disease. Esophageal atresia was found in 29 (21%) cases, 20 in cases with renal cystic dysplasia and 9 in cases with cortical cysts in syndromes of multiple malformations. The possibility of renal cystic disease should therefore be kept in mind in infants with congenital malformation(s), especially those with esophageal atresia.

Abnormalities, Multiple↗
PubMed1983

The thickness of the glomerular basement membrane in congenital nephrotic syndrome of the Finnish type.

Electron microscopic examination was carried out on 10 glomeruli from 4 infants with congenital nephrotic syndrome of the Finnish type (CNF) and 5 glomeruli from 1 control. The thickness of the peripheral glomerular basement membrane (GBM) and lamina densa were measured. The width of the GBM was thinner in CNF than in the control but still within normal limits for the age and the width of the lamina densa was thinner in CNF compared to the control. This study supports earlier findings that the basic defect in CNF could be a faulty synthesis of the lamina densa.

Basement Membrane↗
PubMed1983

Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.

Salla disease is a lysosomal storage disorder associated with increased urinary excretion of free sialic acid. The main clinical features in 34 patients were severe psychomotor retardation of early onset, ataxia, athetosis, rigidity, spasticity, and impaired speech. Growth retardation, thick calvarium, and exotropia were present in about half the patients. The amplitude of EEG decreased progressively with increasing age. Life span appears to be normal; the age range of the patients was 3 to 63 years. Genealogic studies suggest an autosomal mode of inheritance. A thin-layer method is described for the detection of increased urinary free sialic acid excretion. The basic defect is so far unknown.

Adolescent↗
PubMed1982

Demonstration of laminin, a basement membrane glycoprotein, in routinely processed formalin-fixed human tissues.

Laminin was demonstrated by immunoperoxidase and immunofluorescence staining in sections of normal human tissues fixed in formalin and routinely processed in paraffin. Exposure of the sections to a solution of pepsin (Burns et al. (1980) Histochemistry 67:73-78) revealed the antigenicity of this basement membrane glycoprotein. Sections from paraffin blocks stored for years at room temperature could be stained with this procedure. Normal human tissues, developing fetal tissues and tumors could be stained with this method. The staining patterns were similar to those seen in unfixed frozen sections. It thus appears that basement membrane components can be detected by immunohistological means from routinely processed histological samples, once the sections are pretreated with proteases. Staining for laminin could be used in embryonic studies and in histopathology to study the relation of cells to basement membranes and for the visualization of normal and abnormal vascularization.

Antigens↗