Search PubMed⌕ Search

Biomedical subjects

S Saarikoski

Publications and source records attributed to S Saarikoski.

At least 73 records · Page 4Linked to original sources
PubMed1996

Deletion in the FMR1 gene in a fragile-X male.

The pathogenesis of Fragile-X syndrome is a consequence of absence of the FMR1 gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 bp proximal to the CGG repeat located at exon 1 in the FMR1 gene. While this is usually the case, some suspected Fragile-X syndrome patients have been described with a mutation other than CGG expansion. We describe here an affected Fragile-X male, who was found to be mosaic of a full mutation of the CGG expansion and a deletion in the FMR1 gene. The patient's phenotype is probably mainly due to the effect of the full mutation of the repeat sequence. Thus, the influence of the deletion is difficult to evaluate.

Base Sequence↗
PubMed1996

Detection of cytochrome P450 gene expression in human placenta in first trimester of pregnancy.

Human first-trimester placentas were screened for the expression of xenobiotic-metabolizing cytochrome P450 (CYP) genes. mRNAs of CYP1A1, CYP1A2, CYP2C, CYP2D6, CYP2E1, CYP2F1, CYP3A4, CYP3A5, CYP3A7, and CYP4B1 were identified by reverse transcriptase-polymearse chain reaction (RT-PCR) in at least some of the six placental samples studied. CYP2A and CYP2B message were absent in all samples. The level of all of these CYP mRNAs was lower compared to the corresponding levels in liver or lung. the catalytic activity marker (7-ethoxyresorufin O-deethylase) was inducible in the placentas by maternal cigarette smoking. Thus, the regulatory system of placental CYP1A1, mediated by the Ah-receptor, appears to be developed as early as the first trimester of pregnancy. Three immunoreactive bands from placental microsomes were detected by an antihuman CYP3A4 antibody, but no functional activity of CYP3A enzymes could be detected. These results show that placental tissue during the first trimester of pregnancy has the potential of expressing several CYP genes, and forms a basis for subsequent analysis of these forms at the protein and functional level.

Base Sequence↗
PubMed1996

Prenatal screening for congenital nephrosis in east Finland: results and impact on the birth prevalence of the disease.

Congenital nephrosis of the Finnish type (CNF) is inherited as an autosomal recessive trait which maps to the long arm of chromosome 19. The disease causes massive proteinuria, and renal transplantation in early neonatal life is the only effective treatment. Prenatal diagnosis, usually in high-risk families, depends on the analysis of alpha-fetoprotein (AFP) levels in maternal serum (MS) or amniotic fluid (AF). We studied the effectiveness of MSAFP measurement as a method of screening all pregnant women for congenital nephrosis. Between 1 January 1979 and 31 December 1992, all pregnant women (N = 110,858) attending maternity care units in East Finland were offered serum AFP measurement as part of a screening programme. All patients whose MSAFP value was > or = 2.5 multiples of the median (MOM) at 15-18 weeks' gestation were given an ultrasound examination and if no morphological abnormality was found, they were then offered amniocentesis. Altogether, 105,880 pregnant women (96 per cent) in East Finland participated in the screening for CNF. A total of 47 cases of CNF were diagnosed during the study period. Elevated AFP concentrations in maternal serum and amniotic fluid (> or = 2.5 MOM) were found in all screened (44/105,880) affected pregnancies except one. The most typical feature of a CNF pregnancy was a very high AFP concentration in the amniotic fluid. As a result of the screening, the prevalence at birth of CNF decreased from 1:2600 to 1:11,086. The possibility of CNF has to be taken into account in pregnancies with a ¿false-positive' elevated AFP result (normal ultrasound and no detectable acetyl cholinesterase).

Amniocentesis↗
PubMed1996

Uterine malformation: a cause of elevated maternal serum alpha-fetoprotein concentrations.

This study was undertaken to investigate the association between uterine anomalies and unexplained elevated maternal serum alpha-fetoprotein (MSAFP) concentrations during the early second trimester. The incidence of uterine anomalies was retrospectively evaluated among pregnant women showing elevated (> 2.5 multiples of the median) mid-trimester maternal serum AFP (N = 312) concentrations in otherwise normal singleton pregnancies and then compared with that amongst patients from the same clinic showing normal serum AFP results (N = 28410). Basic clinical data of the study group were also analysed. The rate of diagnosed developmental uterine malformations in patients showing elevated MSAFP levels was 1 in 31, whereas the rate in the control group was 1 in 710 (3.2 per cent vs. 0.14 per cent). The relative risk was 22.1 [95 per cent confidence interval (CI) 11.1-43.7]. Amniotic fluid (AF) concentrations of AFP were normal in the study group. Our preliminary observations suggest that elevated MSAFP in the second trimester may in some cases be explained as being solely a result of uterine anomaly. The fetal to maternal transfer of AFP occurs by a transplacental, not a transamniotic, route, since AFAFP concentrations were normal. Consequently, obstetricians taking care of these patients should take this possibility into account.

Adolescent↗
PubMed1996

Management of stage-I borderline ovarian tumors.

OBJECTIVE: To evaluate the surgical management and outcome of stage-I borderline ovarian tumors. METHODS: A series of 95 cases of FIGO stage-I borderline ovarian tumors was retrospectively reviewed. RESULTS: The age of the patients ranged from 17.6 to 88.9 years (mean 52.7 years). Serous and mucinous tumors were equally represented (47.5% and 47.4%, respectively), endometrioid and clear cell tumors comprising the remaining three (3.2%) and two (2.1% cases. Extirpative primary surgery was performed on all patients. Three patients received postoperative chemotherapy. Nineteen of the 28 patients (67.9%) who were younger than 40 years underwent conservative surgery in which ovarian tissue and the uterus were preserved in order to maintain reproductive potential, and nine of them had successful pregnancies later. Ninety patients were followed regularly for 0.75-21.3 years (average 7.3 years). Seven patients suffered a tumor relapse (7.8%) within 0.6-4.3 years, and four (57.1%) of them (three with mucinous tumors, one with clear cell tumor) died of the disease within 1-10.8 years. The 5- and 10-year overall survival rates were 97.0% and 86.3%, respectively, and the disease-free survival rates were 90.8% in both 5- and 10-year follow-ups. CONCLUSIONS: Even though the prognosis of surgically treated stage-I borderline ovarian tumors is excellent, mucinous and clear cell subtypes are associated with potential mortality.

Adolescent↗
PubMed1996

Perinatal diagnostic evaluation of velamentous umbilical cord insertion: clinical, Doppler, and ultrasonic findings.

OBJECTIVE: To evaluate the association between velamentous cord insertion and adverse pregnancy outcome in singleton pregnancies, and to assess the diagnostic usefulness of nonstress testing (NST) and Doppler ultrasound in this condition. METHODS: We retrospectively reviewed 12,750 consecutive singleton, chromosomally normal pregnancies from July 1989 through December 1993 at the University Hospital of Kuopio, Finland. Of these, 216 were complicated by velamentous umbilical cord insertion, whereas the remaining 12,534 were normal controls. Using multiple regression analysis, we evaluated the risks by noting adverse infant outcomes: low birth weight (LBW), small for gestational age (SGA), preterm delivery, fetal death, admission to a specific infant care unit, low Apgar scores, neonatal acidemia, and abnormal intrapartum fetal heart rate (FHR) patterns. At prenatal visits, NST and Doppler ultrasound examinations were carried out as a routine part of obstetric care. RESULTS: Even after we controlled for confounding factors, velamentous umbilical cord insertion was associated with higher risk of LBW (odds ratio [OR] 2.32), SGA (OR 1.54), preterm delivery (OR 2.12), low Apgar scores at 1 and 5 minutes (ORs 1.76 and 2.47, respectively), and abnormal intrapartum FHR pattern (OR 1.59). Only 5% of the patients with abnormal insertion showed pathologic NST results at prenatal visits. Ultrasonographic examination was carried out on 80 patients with velamentous umbilical cord insertion as a routine part of obstetric care, and in only one case was direct visualization of the abnormal insertion successful. After we excluded pregnancies with preeclampsia, abnormal umbilical artery Doppler velocimetry was found in none of the cases examined (n = 48). CONCLUSION: There were substantial differences in pregnancy outcome measures between the subjects with velamentous umbilical cord insertion and controls. Current antepartum methods of tracing uteroplacental problems are not effective in the prenatal detection of abnormal insertion. Therefore, in future studies, the use of other diagnostic tools, such as color Doppler imaging of cord insertion, should be evaluated in high-risk pregnancies followed-up because of fetal growth restriction.

Adolescent↗
PubMed1996

Vertical transmission of human papillomavirus from infected mothers to their newborn babies and persistence of the virus in childhood.

OBJECTIVE: The purpose of this study was to determine the potential for human papillomavirus to be transmitted vertically. STUDY DESIGN: We started a systematic study of children 0.3 to 11.6 years old born to mothers included in the cohort of 530 women prospectively followed up for genital human papillomavirus infections in Kuopio since 1981. So far 98 children have been examined. The examinations included medical history, clinical examination of the oral cavity and hand warts, and cytologic samples from the oral mucosa for detection of human papillomavirus deoxyribonucleic acid with polymerase chain reaction with subsequent Southern blot hybridization. RESULTS: Human papillomavirus deoxyribonucleic acid was found in 31 of the 98 (31.6%) oral scrapings. with MY09 and MY11 human papillomavirus primers, 12 of the 98 were positive for human papillomavirus deoxyribonucleic acid in the electrophoresis gel and in subsequent hybridization. Nineteen of the positive samples were not visible in the gel but become positive when hybridized. At delivery, 5 mothers had genital human papillomavirus infection with the same virus type found in her child. In the additional 11 mothers genital human papillomavirus infection with the same virus type as in the child was diagnosed a few months before or after delivery. Mothers of the 25 children shown to be negative for oral human papillomavirus were also human papillomavirus deoxyribonucleic acid negative at delivery. Minor hyperplastic growths of the oral mucosa were found in 21 of the 98 children (21%). One child had a papilloma where human papillomavirus 16 deoxyribonucleic acid was detected, as was also found in her mother's genital area at delivery. CONCLUSIONS: Our results support the concept that an infected mother can transmit human papillomavirus to her child.

Blotting, Southern↗
PubMed1996

Seminal fluid antisperm antibodies measured by direct flow cytometry do not correlate with those measured by indirect flow cytometry, the indirect immunobead test, and the indirect mixed antiglobulin reaction.

OBJECTIVE: To compare the direct flow cytometric (FCM) measurement of sperm-bound antibodies with the indirect FCM measurement of unbound antisperm antibodies in seminal plasma of the same ejaculates. To compare the FCM measurements with the indirect mixed antiglobulin reaction (MAR) and the indirect immunobead test (IBT) performed on the same seminal plasmas. SETTING: University hospital-based infertility service. PATIENTS: Eleven infertile men with a positive immunoglobulin (Ig) G direct MAR test and antibody positivity on the direct FCM measurements. Four control patients with a negative IgG-direct MAR test. MAIN OUTCOME MEASURES: The proportion of spermatozoa positive for IgG and IgA antibodies as measured by various tests. RESULTS: The direct and indirect FCM measurements for sperm-bound antibodies from seminal plasma did not correlate with each other. In general, IgG antibodies were not detectable by indirect FCM whereas IgA were detected in lower proportions than by direct FCM measurements. Weak correlation was observed between the indirect FCM, indirect MAR, and indirect IBT measurements. CONCLUSION: Nearly all of the IgG and some of the IgA antisperm antibodies in seminal fluid bind to spermatozoa. Thus, indirect tests to measure antisperm antibodies from seminal plasma are likely to miss the presence of antisperm IgG antibodies while detecting some cases of IgA antibodies.

Flow Cytometry↗
PubMed1996

Effect of in vitro fertilization on human chorionic gonadotropin serum concentrations and Down's syndrome screening.

OBJECTIVE: To investigate the association between IVF and Down's syndrome screening analytes (alpha-fetoprotein [AFP] and hCG) during the second trimester. DESIGN: Retrospective analysis. SETTING: University-based tertiary care infertility clinic. PATIENTS: Data on 41 consecutive singleton IVF pregnancies and 4,935 naturally occurring singleton pregnancies. RESULTS: Maternal serum hCG concentrations were elevated (mean 1.52 multiples of the median [MoM]) in IVF pregnancies, whereas there were no significant differences in AFP levels (mean 1.02 MoM). The mean maternal age was higher in the subjects than in controls (33.8 compared with 28.7 years). In relation to Down's syndrome risk assessment, the pattern of the two markers, together with maternal age, indicated high risk more often in the study subjects than in the controls. In vitro fertilization patients had a false-positive rate of 26.8% compared with 6.6% in women without fertility problems. CONCLUSION: The increased false-positive rate in Down's syndrome screening is related not only to advanced maternal age but also, in part, to the elevated hCG concentrations observed in pregnancies after assisted reproduction. The mechanism behind increased hCG production remains to be elucidated, but it may be an effect associated with infertility or the procedures by which these women conceive. To provide an objective assessment of an individual patient's risk of fetal abnormality, the impact of IVF on hCG biochemistry should be studied further in larger samples and adjustments made if appropriate.

Adult↗
PubMed1996

HLA types in women with cervical human papillomavirus (HPV) lesions prospectively followed up for 10 years.

Certain genotypes of HPV have been recently implicated in the etiology of carcinoma of the uterine cervix. In order to determine whether HLA antigen-controlled immunoregulatory functions have a role in the pathogenesis of HPV infections, class I and II HLA antigen typing was carried out on a series of 96 randomly selected women who were part of a cohort of 530 women prospectively followed up for cervical HPV infections in our clinic since 1981. The frequency of the DQ3 antigen, which has previously been reported to be increased among cervical cancer patients, was decreased in our HPV patients compared with the control group of Finnish women, but it was slightly increased in HPV16-infected women (P = 0.0812). However, we were able to demonstrate that HLA-DR5 antigen is significantly increased (i) in patients with high grade cervical intraepithelial neoplasia (CIN) (P < 0.02), and (ii) in women harbouring the high risk HPV type 16 (P = 0.0003), thus confirming earlier reports of an association of this HLA antigen and cervical cancer. Such a close association between the high risk HPV type 16 with an HLA antigen might have important implications in the possible immunogenetic basis of the increased risk for squamous cell carcinoma of the uterine cervix.

Cytotoxicity Tests, Immunologic↗
PubMed1996

Elevated midtrimester maternal serum hCG in chromosomally normal pregnancies is associated with preeclampsia and velamentous umbilical cord insertion.

This study was undertaken to determine whether patients with unexplained, elevated second-trimester maternal serum human chorionic gonadotropin (hCG) concentrations are at increased risk of adverse pregnancy outcome. In a retrospective study, perinatal outcomes of 355 patients showing elevated second-trimester maternal serum hCG concentrations (> or = 2.0 multiples of median) were compared with those of patients from the same clinic showing normal values (N = 4935), using multiple regression analysis. The effects of variables such as socioeconomic status on pregnancy outcome were taken into account. Between the study subjects and controls, statistically significant differences were observed as regards low birthweight (odds ratio [OR] 1.56, 95% confidence interval [CI]: 1.00-2.44) and intrauterine growth retardation (OR 1.46, 95% CI: 1.03-2.06). Differences in the frequencies of preterm delivery, fetal/perinatal death, fetal distress, or admission to a specific infant care unit were not statistically significant. Preeclampsia (OR 1.76, 95% CI: 1.16-2.70) and velamentous umbilical cord insertion (OR 2.62, 95% CI: 1.47-4.69) were particularly involved in the pathophysiology. Elevated maternal serum hCG concentrations were associated with an increased risk of adverse pregnancy outcome. This resulted mainly from preeclampsia and velamentous umbilical cord insertion. The optimal perinatal management strategy for patients with unexplained elevated hCG levels is not yet resolved. In view of our results, the possibility of preeclampsia and abnormal insertion should be taken into account. In future studies, increased surveillance should be offered in cases showing abnormal uterine artery velocimetric results or abnormal umbilical cord insertion in color Doppler examination to evaluate whether and to what extent intensive monitoring decreases perinatal morbidity in high-risk pregnancies followed because of unexplained, elevated hCG. Until further data are available, no specific recommendations can be made.

Adolescent↗
PubMed1996

High and unchanged sperm counts of Finnish men.

Several recent reports have suggested that the sperm counts of normal men are declining in most countries. In this study the sperm counts of Finnish men, and their possible changes during the past 28 years, were investigated. The material consisted of semen samples from 238 normal healthy men of unknown fertility and 5481 men from infertile couples. The means (medians) of semen volume, sperm density and total sperm count in normal men were 3.3 (3.0) ml, 133.9 (94.0) x 10(6)/ml and 396.6 (309.0) x 10(6), respectively. These parameters and the relative frequency distribution of the sperm density were similar to those reported elsewhere in the 1940s. Multiple linear regression analysis revealed a significant decrease in semen volume, whereas sperm density and total sperm count of infertile men had not changed significantly during the past 28 years. In addition, no change in sperm counts was associated with the year of men's birth.

Adult↗
PubMed1996

A placebo-controlled flow cytometric study of the effect of low-dose prednisolone treatment on sperm-bound antibody levels.

In this placebo-controlled study the effect of short term, low-dose prednisolone treatment on sperm-bound antibody levels was investigated using an objective flow cytometric (FCM) measurement. Twenty infertile men, positive for antisperm antibodies by the mixed antiglobulin reaction (MAR) test, were treated with either 20 mg/day prednisolone (n = 10) or placebo (n = 10) for 3 weeks. The two groups were similar with respect to sperm count, motility and antibody levels. The proportion of spermatozoa positive for IgG and IgA antibodies and the antibody load, expressed as the number of IgG and IgA antibody molecules bound per spermatozoa were measured by FCM. The study showed that, overall, the antibody levels measured before and after treatment with low-dose prednisolone or with placebo were not statistically different. However, in the prednisolone group a marked decrease in the proportion of spermatozoa positive for IgG and IgA antibodies was observed in two of the patients. An examination of the FCM data of these two patients revealed that, in their ejaculates, only the spermatozoa with low to moderate amounts of sperm-bound antibodies had responded to prednisolone treatment, while spermatozoa with high levels of sperm antibodies had remained resistant to prednisolone. These results point to the existence of an as-yet-undefined subset of prednisolone-responsive, antibody--positive spermatozoa.

Antibodies↗
PubMed1996

Velamentous umbilical cord insertion may be suspected from maternal serum alpha-fetoprotein and hCG.

OBJECTIVE: Patients with unexplained elevations in second trimester maternal serum alpha-fetoprotein or human chorionic gonadotrophin (hCG) concentrations are at increased risk as regards a variety of pregnancy complications and adverse perinatal outcomes. Evidence suggests that elevated alpha-fetoprotein and hCG concentrations may, in some case, be sensitive indicators of underlying placental pathology, either vascular or inflammatory in nature. The present study was carried out to compare these biochemical markers in pregnancies complicated by velamentous umbilical cord insertion (VCI) with normal pregnancies. DESIGN: An observational study. PARTICIPANTS: Maternal serum hCG and alpha-fetoprotein concentrations were measured in samples from 76 singleton pregnancies complicated by VCI and from 5200 chromosomally normal controls at 15 weeks of gestation. RESULTS: Maternal serum hCG concentrations were elevated (mean 1.47 multiples of median (MoM)) in affected pregnancies, whereas alpha-fetoprotein levels were lower (mean 0.88 MoM) in the subjects than in the controls. In relation to Down's syndrome risk assessment, the pattern of the two markers indicated high risk more often in VCI than in pregnancies with normal umbilical insertion. Accordingly, the increased false positive rate (26.3% compared with 6.6%) resulted in a higher rate of invasive techniques for fetal karyotyping in these pregnancies. CONCLUSIONS: In obstetric practice, elevated maternal serum hCG concentrations may in some cases be explained as being solely the result of abnormal insertion, which provides a link between unexplained hCG elevation and adverse pregnancy outcome. We suggest colour flow Doppler imaging of cord insertion in pregnancies followed because of unexplained hCG elevation or a false positive result in Down's syndrome screening.

Adult↗
PubMed1996

Endometrial and fetoplacental markers in pregnancies with fetal congenital nephrosis.

OBJECTIVE: Congenital nephrotic syndrome of the Finnish type [CNF] is an autosomal recessive disorder leading to death in early childhood, if treated conservatively without early renal transplantation. Prenatal screening at midtrimester is feasible by measuring maternal serum alpha-fetoprotein [MSAFP], elevated amniotic fluid [AF] AFP being the only diagnostic test in population screening. We studied whether concentrations of other pregnancy-related markers offer any ancillary procedure for screening. METHODS: In a prospective case-control study, the concentrations of maternal serum human chorionic gonadotropin [hCG], unconjugated estriol [uE3], human placental lactogen [hPL] and placental protein 14 [pp14] were measured in samples from six singleton pregnancies associated with fetal CNF and from 18 matched controls at 15 weeks of gestation. RESULTS: In the CNF group, mean hCG and pp 14 concentrations were slightly elevated, whereas uE3 and hPL concentrations were within the lower normal range. None of these differences were statistically significant and the distribution of these values was too wide to use them for screening. CONCLUSIONS: Low unconjugated E3 and elevated hCG concentrations were expected, since newborns with CNF are growth-retarded and have large placentas. The extent of these alterations was not sufficient to identify high risk pregnancies. Substantial differences in the maternal serum concentrations of hPL and pp 14 were not observed. Hence, MSAFP screening at midtrimester is the strategy of choice for prenatal detection of CNF.

Amniotic Fluid↗
PubMed1995

Prediction of fracture risk using axial bone mineral density in a perimenopausal population: a prospective study.

Several prospective studies have shown that the bone mineral density (BMD) measured in the appendicular or axial skeleton has an inverse relationship with the risk of subsequent fractures. However, most of these studies have concentrated on relatively old age groups, and the usefulness of measuring BMD at the time of menopause has not been established. In the present study, BMD was measured at the lumbar spine and femoral neck by dual X-ray absorptiometry (DXA) in a random stratified population sample of 3222 perimenopausal women (mean age 53.4 years, range 47-59 years). These women were followed for fractures over a period of 2 years. The fractures reported by a postal inquiry were verified from medical records. Fractures sustained in motor vehicle accidents were excluded from the analyses. During a mean follow-up of 2.4 years, 183 fractures occurred in 168 women. Wrist (n = 47), ankle (n = 31), and rib (n = 28) were the most common sites of a fracture. Women in the lowest quartile of spinal BMD had a 2.9 times greater risk of fracture than those in the highest quartile. The respective risk increased 2.2 times from the lowest to the highest quartile of femoral BMD, respectively. The relative risk for suffering from any fracture per one SD decrease in BMD was 1.50 (95% CI; 1.27-1.76) for the spine and 1.41 (1.21-1.64) for the femoral neck. The present study demonstrates that bone mass is important in the pathogenesis of fractures even in perimenopausal women. We conclude that the axial BMD measurement at the time of menopause can be of use in predicting subsequent fracture risk.

Absorptiometry, Photon↗