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Biomedical subjects

R Herva

Publications and source records attributed to R Herva.

At least 91 records · Page 5Linked to original sources
PubMed1982

Combined use of ultrasound and computed tomography in the evaluation of fetal intracranial abnormality.

Antenatal ultrasonic findings in two pregnancies with fetal intracranial abnormality were completed by taking a restricted number of computed tomography (CT) scans under ultrasonic control. General information achieved by CT was not greater compared with ultrasonography. CT demonstrated better than ultrasound the calcified areas in the intracranial teratoma of the fetus. In the case of fetal hydrocephaly the existence of a dilated, but otherwise intact cerebral ventricular system was established by CT after a somewhat controversial ultrasonic finding. CT can be used as a complementary examination when there are specific problems to be evaluated after antenatal ultrasonic scanning. CT should be used in these cases under ultrasonic control and the information of the both methods must be combined for the clinical decisions.

Adult↗
PubMed1981

A deletion in chromosome 22 can cause DiGeorge syndrome.

An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.

Child, Preschool↗
PubMed1981

Clinical features of pregnancies with fatal fetal abnormality.

Obstetrical features and antenatal findings in 68 pregnancies with fatal fetal abnormalities are evaluated. The course of the pregnancy was complicated in 81% of these cases, the most common complication being intrauterine fetal growth retardation (IUGR) which was typical for 18-trisomies and multimalformed fetuses. The retardation in symphyseal-fundal growth was manifested on the average on the 25th gestational week. Low-profile type biparietal growth retardation was associated with 43% of the IUGR cases, and the brain-sparing effect in growth was found in 29%. Polyhydramnios was a complication in 30% of the series. Premature labor was associated with 60% of the spontaneously initiated deliveries in the series, and was not due to the polyhydramniotic tendency only. Antenatal evaluation of the fetoplacental unit function revealed a normal capacity of 62% of the cases. The fatality of the fetal abnormality was not manifested in any special feature of the complications of the pregnancy. Antenatal etiological evaluation and search for fetal anomalies in all pregnancies complicated by early IUGR, polyhydramnios and imminent premature labor is stressed for the adequate assessment of perinatal care.

Chromosomes, Human, 16-18↗
PubMed1981

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys. Polyhydramnios and stillbirth or neonatal death were the rule. Autosomal recessive inheritance is evident. This syndrome is another in the group of rare recessive disorders which are found in Finland. Because of the 25% recurrence risk and possibilities for prenatal diagnosis, this syndrome should be recognized by paediatricians and, because of the frequent stillbirths, also by obstetricians and pathologists. The name hydrolethalus syndrome (hydramnios, hydrocephalus, lethality) may be of help in this.

Abnormalities, Multiple↗
PubMed1981

Immunodeficiency associated with a deletion in the short arm of the X-chromosome.

The immunocapacity of a 28-year-old mentally retarded proband and her clinically normal mother and sister, all having a deletion of the short arm of one of the X-chromosomes [46, X, del (X) (pter to 22: :p11 to qter)], was evaluated. The concentrations of immunoglobulin IgA (0 . 4 g/l), IgG (4 . 4 g/l) and IgM (0 . 2 g/l) were low in the proband. The serum IgA (0 . 9 g/l) concentration of her mother was also at the lower normal limit. The serum concentration of complement component C4 was low both in the proband (0 . 17g/l) and in her mother (0 . 18 g/l). Phagocytosis and killing of bacteria by granulocytes were normal in all of them. However, the chemotactic response of granulocytes was at the lower normal level in the patient. The in vitro responses of peripheral blood lymphocytes to the polyclonal T-clonal mitogens, PHA and Con A, were about half normal in the patient and were also decreased in her mother. The response was also decreased against PWM, to about one-sixth of the normal value in the patient and to one-half in her mother. The Con A response was decreased in the sister, while her PHA and PWM responses were normal. In contrast to these findings, the responses against the antigen-specific stimulators, PPD and oidiomycin, were normal in all subjects. Natural killer cell activity against the K-562 cell line was decreased in the patient but normal in her mother and sister. The number of B cells was at the normal limit in all subjects. The amount of E rosette-forming T lymphocytes was normal but the amount of ANAE-positive cells was decreased, especially in the proband (31%). Our results describe a new human immunodeficiency state, probably associated with X-chromosome deletion. We suggest that the short arm of the X-chromosome exerts its effect on regulatory T cells. Whether the humoral defect is connected with suppressor T cells remains to be established.

Adult↗
PubMed1980

Dicentric Y chromosome arising via tandem translocation.

We describe a 22-year-old woman with primary amenorrhea, bilateral gonadoblastomas, and short stature (148.0 cm), but no other signs of the Ullrich-Turner syndrome. There were three cell lines identified in peripheral blood lymphocytes - 45,X (30%), 46,XY (60%), and 46,X,tan dic(Y) (10%). Cells cultured from gonadal biopsies showed only the 45,X karyotype. However, frozen sections of the biopsies showed frequent single and rare double-Y-chromatin bodies. Lymphocytes were H-Y antigen-negative. This previously undescribed structurally abnormal chromosome probably consists of two Y chromosomes attached end-to-end in a tandem translocation. One of the centromeres forms the primary (functional) constriction, the other being detectable only as C-positive material on each chromatid, so presumably inactive. The discrepancy between the presence of Y-chromatin in frozen sections of the gonads and its absence from karyotype in gonadal cultures is indicative of cell selection in tissue culture. Finally, the case confirms the high risk of gonadoblastoma in women with a Y chromosome, even in the absence of H-Y antigen.

Adult↗
PubMed1980

Study of blighted ovum by ultrasonic and histopathologic methods.

The value of histopathologic examination was estimated in 60 abortions at 8 to 16 weeks' gestation. The diagnosis of blighted ovum had previously been made by careful ultrasonic examination. In the histopathologic examination of the villous tissue the criteria of pathologic or probably pathologic ovum were fulfilled in 55% of the cases. The evaluated retention time of the uterine contents was 1 week or more in 73%. The practical value of histopathologic and ultrasonic examination in the diagnosis of blighted ovum has been discussed.

Abortion, Spontaneous↗
PubMed1980

Multicystic kidney. A clinical and histological study of 13 patients.

Multicystic kidney (MK) was diagnosed in 13 patients at the University Central Hospital of Oulu during the 9 year period 1970--78. In the district of the hospital the evaluated incidence of MK was 0.3 per 1000 live-born children. 12 of the patients were infants aged under one year. Two of these died soon after birth; one had severe extraurinary anomalies and the other had bilateral MK. The removal of MK was performed in ten cases. In ten operated and two autopsied patients the cystic dysplasia involved the kidney entirely. There was no discernible normal renal parenchyma and the ipsilateral ureter was always abnormal. On the opposite side one patient had a severe ureteric stenosis with hydronephrosis, and 4 patients had vesicoureteral reflux. Extraurinary anomalies were also common. Three patients had a significant cardiovascular abnormality. The accurate diagnosis could usually be obtained preoperatively. It was found that typical findings of physical examination, plain films, intravenous urography and B-mode ultrasound give sufficient information for accurate diagnosis to be made in most cases. Mictiocystography and endoscopy were required for associated urinary anomalies. Following the diagnosis, the removal of MK should be performed at the correct time, and also if asymptomatic, because these can become symptomatic later in life.

Adolescent↗
PubMed1980

Twin pregnancy in woman with 45,X/47,XXX karyotype.

A successful twin pregnancy in a woman with a 45,X/47,XXX karyotype is described. This report demonstrates that in patients with a mosaic genotype with a 45,X/47,XXX chromosome constitution, somatic defects may be absent or milder than in those with a typical Turner's phenotype, and the women may even be fertile.

Adult↗