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Biomedical subjects

C Jörgensen

Publications and source records attributed to C Jörgensen.

At least 19 recordsLinked to original sources

[Folic acid protects against neural tube defects. But how many women of reproductive age have been informed about this fact?].

The involvement of folic acid in the aetiology of neural tube defects (NTDs) has been discussed for decades. Both observational and controlled intervention trials have shown periconceptional folic acid supplementation (PFAS) to significantly reduce the incidence both of first-time and recurrent NTDs. PFAS may also be associated with reduction in the incidence of certain other congenital malformations, preterm delivery, and intra-uterine growth retardation. However, the mechanism whereby folic acid exerts its protective effect remains unclear. Thermolabile 5,10-methyl-enetetrahydrofolate reductase was the first folate-related enzyme to be associated with an increased risk of NTDs. This genetic variant may result in increased plasma homocysteine levels, which have been linked to an increased risk of NTDs. The folate-dependent genetic variants known today can explain no more than 30-50 per cent of the observed protective effect of folate. However, available evidence suggests low maternal folate status itself to be the major determinant of NTD risk. Since the vast majority of NTDs are first occurrences, and in Sweden a large proportion of fetuses with spina bifida remain undetected at routine ultrasonography during pregnancy, primary prevention by means of PFAS represents a major potential public health asset, capable of reducing both mortality and morbidity due to NTDs. Accordingly, implementation of a national strategy to reduce the incidence of NTDs, and promote awareness among health care providers and women of reproductive age of the benefits of PFAS is strongly to be recommended. Although supplemental folic acid tablets are the best proven means of improving folate status, compliance may be a problem, which emphasises the importance of considering a nutrient fortification programme as a complementary strategy for reducing the incidence of NTDs.

Female↗

Amniocentesis before the 15th gestational week in single and twin gestations-complications and quality of genetic analysis.

BACKGROUND: Early amniocentesis has been claimed to confer a higher risk of fetal loss than standard amniocentesis after the 15th gestational week. Our experience of early amniocentesis in single and twin gestations from 1990 - 1995 is presented with 99.3% follow-up. METHODS: Amniocentesis was performed between 11 gestational weeks + 5 days and 14 gestational weeks + 6 days. RESULTS: In 1646 pregnancies 1678 amniocenteses were performed. Thirty-two reamniocenteses were done, 17 due to amniocyte culture failure and 15 due to failure to obtain sufficient amount of amniotic fluid on the first occasion. After puncture 1.49% (25/1678) suffered a spontaneous abortion. Twenty twin pregnancies were included. One spontaneous abortion was noted in this group, as well as three cases where one fetus was normal and the other had a severe defect. Selective abortions were performed without complications. CONCLUSIONS: The difference of postprocedure fetal loss in our population between early and standard amniocentesis is 0.8%. A comparison of postprocedure losses is not appropriate when amniocenteses are performed at a different gestational age, as spontaneous loss decreases with increased gestational age. Our results compare well with the only randomized study between early and standard amniocentesis where the fetal loss after early amniocentesis is similar to that in standard amniocentesis.

Abortion, Spontaneous↗

Genetic analysis of the cytochrome P450 CYP2D6 polymorphism in patients with systemic lupus erythematosus.

Previous reports of an association between the polymorphic cytochrome P450 CYP2D6 and systemic lupus erythematosus are conflicting. Following the elucidation of the molecular basis of the CYP2D6 genetic polymorphism, we re-examined the hypothesis of an association of this gene with a susceptibility to system lupus erythematosus by analysing the complete CYP2D6 coding sequence. For this purpose, we studies the occurrence of 16 mutations in genomic DNA from 69 systemic lupus erythematosus patients and a large control group using a previously described polymerase chain reaction-single strand confirmation polymorphism analysis. In addition, we studied the occurrence of 11 alleles and 21 genotypes in the same individuals by the combined use of restriction fragment length polymorphism and allele-specific polymerase chain reaction followed by polymerase chain reaction-single strand confirmation polymorphism analysis. No significant differences in the distribution of overall genotypes and predicted phenotypes were observed between system lupus erythematosus patients and controls. The only new finding of our study is the higher frequency of one non functional allele, namely the CYP2D6*4A, in systemic lupus erythematosus versus control individuals (P = 0.007). This increased frequency was not statistically significant in multiple comparison analysis and was not related to any specific clinical features of systemic lupus erythematosus. These results suggest that CYP2D6 genotype as well as CYP2D6 phenotype are not determinant of susceptibility to systemic lupus erythematosus but the presence of the inactive CYP2D6*4A allele may be a contributory factor.

Adult↗

Fluid characteristics of benign ovarian cysts: correlation with recurrence after puncture.

OBJECTIVE: To determine whether concentrations of gonadal steroids and fibrinolytic indices in fluid from benign ovarian cysts can discriminate between functional and neoplastic cysts and predict recurrence after ultrasound-guided puncture. METHODS: Concentrations of gonadal steroids and components of the plasminogen-activating system were measured in cyst fluid obtained at ultrasound-guided puncture of 96 ovarian cysts and were related to subsequent cyst recurrence. In 83 patients who had surgery for benign ovarian cysts, components of the plasminogen-activating system in the cyst fluid were correlated with the histopathologic diagnosis. RESULTS: Higher levels of plasminogen activators and lower levels of inhibitors were found in those 54 cysts that recurred after puncture and in cysts with low levels (below 2000 pmol/L) of estradiol (E2). This enzyme-inhibitor balance resulted in high fibrinolytic activity. In contrast, cysts with high E2 levels (above 2000 pmol/L) had lower levels of activators, higher levels of inhibitors, and virtually no fibrinolytic activity. A high E2 concentration in cyst fluid was the single best predictor of no recurrence after puncture. Sixteen of 18 cysts in postmenopausal women recurred, and all had low levels of E2. However, an index based on cyst fluid volume and concentrations of E2 and urokinase predicted recurrence even better. A high concentration of urokinase in the fluid correlated with neoplastic histology of the cysts obtained at laparotomy. CONCLUSION: The fluid content of ovarian steroids and plasminogen activators and inhibitors is related to histopathology and recurrence after puncture of benign ovarian cysts. Puncture and assay of these components may minimize surgery on functional cysts.

Estrogens↗

Insidious urinary retention after vaginal delivery: prevalence and symptoms at follow-up in a population-based study.

The purpose of this study was to investigate the prevalence of postpartum urinary retention in women after vaginal delivery and to determine whether parturients with retention develop voiding problems later. During a 3-month period, all parturients in the catchment area of the University Hospital, Lund, were investigated 3 days after delivery, residual volume being measured by ultrasonography. All those with postpartal retention were contacted 4 years after delivery, when they were reexamined by ultrasonography and asked to fill in a questionnaire regarding urinary problems. In all, 539 women were scanned post partum, and 8 (1.5%) had a residual volume exceeding 150 ml (range 156-320 ml). Retention was more common among primiparae after instrumental delivery or epidural analgesia. The symptoms were normalized spontaneously within a few days in all cases. At follow-up 4 years later, the prevalence of urinary symptoms was not higher than that in the general population. Ultrasonography to detect urinary retention does not seem to have any place in the normal postpartal care. However, extended supervision may be appropriate in parturients receiving epidural analgesia or in those submitted to instrumental deliveries.

Analgesia, Epidural↗

Normal ultrasonic fetal growth ratios evaluated in cases of fetal disproportion.

During a 2-year period, 5476 normal routine obstetrical ultrasound investigations were performed in the 2nd trimester (16th to 20th week). Data on biparietal diameter (BPD), abdominal diameter (AD) and femur length (FL) have been obtained from this material. Ratios between BPD/AD and BPD/FL have been calculated, and from these ratios, graphs were constructed. Only nine normal fetuses (0.2%) were found to be outside mean +/- 3 SD, and none of the normal cases were +/- 4 SD, so this is perhaps a better guideline for those warranting further investigation. To evaluate if these ratios could better reflect disproportional fetal growth, three cases of triploidy and four cases of dwarfism were tested against these ratios. Triploidy was obvious on the BPD/AD graph and dwarfism on the BPD/FL graph. The ratios were not found to be conclusive in the intrauterine diagnosis of trisomy 21 or of trisomy 18, as only 4 of 17 cases were obvious on the graphs.

Embryonic and Fetal Development↗

Pneumothorax in pregnancy.

Since 1957, only 15 cases of isolated spontaneous pneumothorax in pregnancy have to our knowledge been reported in the English literature. The treatment of pneumothorax in pregnancy is more difficult than in non-pregnant patients. A case is reported and therapy discussed.

Adult↗

Intrauterine growth of the fetus at term. A prospective and longitudinal study with real-time ultrasound.

Intrauterine fetal growth was followed in a prospective study of 654 consecutive singleton pregnancies. Ultrasound fetometry was performed in gestational weeks 17, 32, and 39, and then weekly until delivery took place. A total of 408 fetuses were examined in the 39th week and 55 investigations were performed in the postterm period. This enabled us to follow the intrauterine growth of the normal fetus both at term and postterm. We found that the intrauterine rate of growth continued constantly, even postterm, for the biparietal diameter, abdominal diameter, and femur length.

Abdomen↗

A prospective comparison of transabdominal and transvaginal ultrasound with surgical findings in gynecologic disease.

Eighty-five patients underwent transabdominal (TAU) and transvaginal ultrasound (TVU) 24 hours before elective surgery for gynecologic disease. No obstetric cases were included. The diagnostic outcome of TVU was not significantly better than that of TAU in spite of a better image quality. The evaluation of large ovarian cysts and sizeable fibroids was difficult with TVU due to the limited field of view. Endometrial pathology was clearly diagnosed by TVU. We recommend using TVU in combination with TAU, especially in cases of unclear pelvic pathology or when larger masses are present.

Abdomen↗

Cystic lesions in elderly women, diagnosed by ultrasound.

A retrospective review of an entire clinical series of 152 women over 50 years of age, in whom cystic lesions without solid parts had been diagnosed by ultrasound, found there were no malignancies in 58 completely anechoic lesions less than 5 cm in diameter. Of 10 small lesions (less than 5 cm in diameter) with some echogenicity or septa, one was a borderline tumour. In contrast, in patients with lesions greater than 5 cm in diameter there were three malignancies in the group of 33 totally anechoic cysts, five in the group of 32 cysts with some echogenicity, and as many as eight malignancies in the 18 lesions where several septa were present. Two borderline and one malignant tumour had been missed at previous clinical examination. We conclude that small anechoic lesions are seldom, if ever, malignant in elderly women. Sonography is helpful in patients with a negative clinical examination when pelvic pain or signs of malignancy are present.

Aged↗

Simple adnexal cysts diagnosed by ultrasound in postmenopausal women.

Thirty simple adnexal cysts in postmenopausal women detected by sonography were followed prospectively. The cysts were totally anechoic or with at most two septations. Size varied from 2 cm to 8 cm, but one was as large as 17 cm. Only seven were discovered at the pelvic examination prior to the scan. Fifteen underwent surgery and no malignant tumor was found. The remaining 15 were followed by sonography only. Six lesions had disappeared after one month, altogether 12 had disappeared after seven months. After two years, only two 2-cm cysts remained. The results indicate that surgery on simple adnexal cysts may not be necessary but they should be followed by sonography.

Adult↗

A prospective comparison of clinical ultrasound and operative examination of the female pelvis.

The value and accuracy of ultrasound examination in patients with gynecological disease is still controversial. Patients scheduled for elective surgery participated in a "blind" ultrasound examination the day before. Findings at surgery were compared with those of ultrasound and of manual examination. Ultrasound was superior to clinical examination in terms of sensitivity (83% and 67%, respectively), whereas specificity was similar for both methods (96% and 94%, respectively). Neither ultrasound nor clinical exam was reliable in detecting tubal anomalies, whereas small solid lesions were missed by sonography and larger cystic lesions by manual exam. Ultrasound would seem to be superior in overall performance, and a useful complement to palpatory exam.

Adolescent↗

Ultrasound measurement of the ovarian volume.

The ovaries of 377 women between the age of 40 and 70 years were measured by ultrasound. About one third of the patients were postmenopausal. Mean value, standard deviation and S.E.M. of the ovarian volume were calculated and related to age, parity and menstrual cycle. Ovarian size decreased with age in all women but bore no relation to parity and day of menstrual cycle in the menstruating group of women over 40 years of age. A diagram of the ovarian volume related to age is presented. In postmenopausal women the volume was related to estrogen treatment, age, parity and years since menopause. In the group of women receiving orally administered estrogens for at least a year the p-values for all parameters were greater than 0.005. Furthermore, the ovarian volume of women under hormonal treatment did not decrease with age. On the other hand the most important factor for ovarian size in subjects not receiving estrogen treatment was age (p = 0.0056). The results presented here will serve as a prerequisite for sonar examination of the ovaries in women at high risk for development of ovarian carcinoma.

Adult↗

The diagnosis and course of antenatal urinary tract dilatation.

During 1980-1984 the ultrasound examination (US) performed in the third trimester revealed urinary tract dilatation in 18 foetuses. After delivery all the infants were reexamined within the first weeks with US, intravenous pyelography and micturition urethrocystography to confirm the malformation. Pelvic dilatation was seen in 12 foetuses, 5 bilaterally. The dilatation was caused by pelviureteric obstruction in 6 infants, 4 of which were operated on with dismembered pyeloplasty. In 6 infants the dilatation was caused by distal ureteric stenoses, and 5 of them were operated on. Two foetuses with dilated pelvis and ureter had distal ureteric stenosis and both were operated. Four infants with the diagnosis of unilateral multicystic kidney, confirmed postnatally, were nephrectomised. At the follow-up the kidney function was normal in 15 infants and slightly decreased in 3 infants with bilateral malformations. The antenatal US revealed pelvic dilatation, but the diagnosis of a dilated ureter was inaccurate. Prenatal urinary tract dilatation should be controlled via US shortly after delivery and, if persistent, evaluated further by means of x-ray examinations.

Creatinine↗

Nephrosis and disturbances of neuronal migration in male siblings--a new hereditary disorder?

Two male siblings (a boy aged 2 years 10 months at death and a male fetus aborted in gestational week 22) showed similar brain and kidney malformations, comprising paraventricular heterotopias, central canal abnormalities (including hydrocephalus in the boy), and glomerular kidney disease with proteinuria. There were no known hereditary diseases in the families of the parents, and there was one healthy sibling of either sex. The malformations thus seem to be hereditary in an autosomal or possibly X linked recessive fashion.

Cerebral Ventricle Neoplasms↗

Placental grading with ultrasound in hypertensive and normotensive pregnancies. A prospective, consecutive study.

Placental grading was studied prospectively with real-time ultrasound in 654 consecutive pregnancies. The placental maturation was clearly demonstrated in both unselected and hypertensive pregnancies. No differences in placental grading were found between normotensive and hypertensive pregnancies. Fetal outcome was not associated with different placental grades and a grade III placenta was not predictive of an adverse outcome. The value of antenatal placental grading in unselective and hypertensive pregnancies could not be demonstrated.

Female↗