bluuebunny/crossref_metadata_2025 huggingface dataset:
The Response of Distant Uninvolved Psoriatic Skin to Standardised Injury Is Not Different from That in Normal Skin
Authors: van Rossum M.M. , Mommers J.M. , van Hooijdonk C.A.E.M. , van Erp P.E.J. , van de Kerkhof P.C.M.
Published: April 2003

The epidermis of uninvolved psoriatic skin is characterised by a slight hyperproliferation and an increase in inflammatory parameters, whereas no differentiation abnormalities are seen. Data with respect to the response of distant uninvolved psoriatic skin to standardised injury are not uniform. In this study, a recently developed multiparameter flow cytometric assay was used to compare the response to tape stripping of uninvolved psoriatic and normal skin. With this method, a parameter for proliferation, differentiation and inflammation was measured simultaneously. Concerning these parameters, no statistically significant differences were found between uninvolved psoriatic skin and normal skin. The mechanism that underlies hyperproliferation in distant uninvolved psoriatic skin does not indicate an intrinsic abnormality in keratinocytes. Inflammatory signals might play a role in this process.
The Effect of the Base on the Kinetics of Action of the Capsaicinoid Nonivamide: Evaluation with a Hyperemic Test
Authors: Stücker M. , Reuther T. , Hoffmann K. , Aicher B. , Altmeyer P.
Published: April 2003

Because of their selective receptor-mediated action on cutaneous nociceptive C-fibers, the interest in capsaicinoids as topical analgetic drugs has been constantly growing over the past years. Knowledge of the pharmacokinetics seems particularly important for potential future clinical applications. Therefore, the aim of the present study was to investigate the influence of the type of preparation on the time course of action of the capsaicinoid nonivamide monitored by the axon-reflex-induced hyperemic action and area of erythema. Sixteen healthy subjects were included in the study. The hyperemic responses after application of nonivamide in an oil-in-water (O/W) emulsion and in a water-free ointment were assessed both by laser Doppler perfusion imaging and planimetry after 0, 15, 30, 45, 60, 120 and 240 min. They were compared with the reaction after application of the nicotinic ester nicoboxil and a combination of nonivamide and nicoboxil in the same preparations. Applied as a water-free ointment, nonivamide showed a slow onset of hyperemic action, reaching its maximum 45 min after application. When applied as an O/W emulsion, however, the increase in effect was high, reaching its maximum already after 30 min. Application of the nicoboxil preparations revealed a clearly lesser influence of the base regarding the onset of maximum effect. The combination of both substances showed an additive effect for both bases, and a maximum effect was found already after 15 min with both the water-free ointment and the O/W emulsion base. In conclusion, the results of the present study show that there appears to be a strong influence of the vehicle on the kinetics of action of capsaicinoids, and that the hyperemic test used in this paper is very useful for the quantitative determination of the pharmacokinetic properties of capsaicinoids. Moreover, the C-fiber-stimulating effect of capsaicinoids can, at least in part, be enhanced by combination with a nicotinic ester, even though these substances have no direct effect on the C-fibers.
Long-Term Effects of Growth Hormone Therapy on Bone Mineral Density, Body Composition, and Serum Lipid Levels in Growth Hormone Deficient Children: A 6-Year Follow-Up Study
Authors: van der Sluis Inge M. , Boot Annemieke M. , Hop Wim C. , de Rijke Yolanda B. , Krenning Eric P. , de Muinck Keizer-Schrama Sabine M.P.F.
Published: April 2003

Aim: To study the effects of growth hormone (GH) deficiency (GHD) and GH replacement therapy (GHRx) on bone mineral density (BMD) and body composition. Methods: 59 GHD children participated (age range 0.4–16.9 years); the follow-up period was 6 years. Lumbar spine BMD (BMDLS), total-body BMD (BMDTB), and body composition were measured prospectively using dual-energy X-ray absorptiometry. Results: Mean BMDLS and BMDTB were significantly reduced at the time of the diagnosis. The bone mineral apparent density of the lumbar spine (BMADLS) was reduced to a lesser degree. The BMADLS increased to normal values after 1 year; BMDLS and BMDTB normalized 1 year later. At the time of the diagnosis, the lean body mass was reduced and steadily increased during GHRx. Percentage of body fat was increased at baseline and normalized within 6 months. The severity of GHD was not associated with the BMD at diagnosis or the response to GHRx. Conclusion: Areal BMDLS and BMDTB and, to a lesser extent, BMADLS are decreased in GHD children, but normalize within 1–2 years.
European Audit of Current Practice in Diagnosis and Treatment of Childhood Growth Hormone Deficiency
Authors: Juul Anders , Bernasconi Sergio , Clayton Peter E. , Kiess Wieland , DeMuinck-Keizer Schrama Sabine
Published: April 2003

Background: The present survey among members of the ESPE on current practice in diagnosis and treatment of growth hormone (GH) deficiency (GHD) is of great clinical relevance and importance in the light of the recently published guidelines for diagnosis and treatment of GHD by the Growth Hormone Research Society. We have found much conformity but also numerous discrepancies between the recommendations of the Growth Hormone Research Society and the current practice in Europe. Results: We found that 80% of the pediatric endocrinologists included insulin-like growth factor I (IGF-I) in their initial evaluation of a short child suspected of having GHD, whereas only 22% used GH provocative testing alone in the initial evaluation of a short child. Sixty-eight percent confirmed the diagnosis of GHD using two separate provocative tests. In the present survey cutoff values for GH provocative testing clustered around two values; 10 ng/ml and 20 mU/l. Interestingly, these two values, differing by a factor of 2, were also the most prevalent cutoff values among those who reported their assay to be calibrated against the WHO International Reference Preparation 80/505 where the conversion factor between milligrams and milliunits is 2.6. This suggests that the selection of cutoff values is based on tradition rather than on specific GH assay characteristics. In addition, only 63% of the respondents actually knew what GH assay they were using, and only 57% knew how their GH assay was calibrated. Dosing of GH at the start of treatment was reported according to body surface by 39%, whereas 59% were dosing according to body weight. GH dose adjustment was primarily based on growth response and height during auxological assessment every 3–4 months (height velocity, change in height velocity or change in height standard deviation scores) as indicated by almost 70% of the respondents. However, dose adjustment according to body surface (38%) and body weight (44%) was also quite common. Sixty-five percent measures IGF-I regularly (at least once a year) during GH therapy in children, and to our surprise 17% reported that they adjust the GH dose according to the IGF-I levels. Summary: In summary, we have found large heterogeneity in the current practice of diagnosis and treatment of childhood GHD among European pediatric endocrinologists. Especially standardizations of GH assays and cutoff values are urgently required to ensure a uniform and correct diagnosis and therapy of GHD in the future.
Pretreatment for Ovarian Endometrial Cyst before in vitro Fertilization
Authors: Suganuma Nobuhiko , Wakahara Yasunori , Ishida Daisuke , Asano Miyuki , Kitagawa Takeshi , Katsumata Yoshinori , Moriwaki Takayuki , Furuhashi Madoka
Published: April 2003

Assisted reproductive technology is a widely accepted treatment for infertile women with endometriosis. The presence of an ovarian endometrial cyst reduces the quality of oocytes, while surgical resection of endometrioma may reduce the ovarian reserve for ovarian stimulation by exogenous gonadotropins. To determine what pretreatment should be performed for ovarian endometrial cyst before IVF-ET, we analyzed IVF outcomes with or without pretreatment in patients with endometrioma. Infertile women with endometrioma who underwent IVF-ET were divided into 3 groups, including patients who had received laparotomy or laparoscopy, patients for whom the endometrioma content had been aspirated and treated with or without alcohol fixation, and patients who did not undergo pretreatment. The number of retrieved oocytes, rate of mature oocytes, and fertilization rate were compared among groups. The results showed that pretreatment for endometrioma reduces the number of retrieved oocytes. Although oocyte quality as a rate of mature oocytes was not affected by the presence of an ovarian endometrial cyst, the fertilization rate was improved by cyst aspiration. We propose that surgical pretreatment is not necessary for ovarian endometrial cyst before IVF-ET, but cyst aspiration may be beneficial after several failed attempts of IVF.
Diagnosis and Imaging of Adenomyotic Disease of the Retroperitoneal Space
Authors: Squifflet Jean , Feger Chantal , Donnez Jacques
Published: April 2003

This manuscript discusses the diagnosis and imaging of adenomyotic disease of the retroperitoneal space, a pathology that we have defined as retroperitoneal adenomyotic disease (RAD). By prospective analysis, comparing barium enema, magnetic resonance imaging (MRI) and transrectal ultrasonography, we distinguished three types of retroperitoneal adenomyotic lesions. The most frequently encountered types were posterior vaginal fornix lesions, followed by hourglass-shaped or diabolo-like lesions, and then by rectovaginal septum lesions. This anatomical classification based on clinical examination and imaging will allow us in the future to define the most appropriate treatment for each entity.
Renal and Intestinal Handling of Oxalate following Oxalate Loading in Rats
Authors: Hatch Marguerite , Freel Robert W.
Published: April 2003

Background: The enteric excretion of oxalate has been established in rats with chronic renal failure induced by 5/6 nephrectomy [Hatch et al.: Regulatory aspects of oxalate secretion in enteric oxalate elimination. JASN 1999;10:S324] and this response is mediated by angiotensin II receptor activation. However, the renal and intestinal handling of oxalate has not been evaluated for other common models of hyperoxaluria that simulate primary hyperoxaluria or oxalate stone disease. Methods: We assessed the renal clearances of creatinine, oxalate and calcium in three rat models: chronic hyperoxaluria (CH), chronic hyperoxaluria with hyperoxalemia (CHH) and acute hyperoxaluria (AH), and evaluated the transepithelial transport of oxalate and chloride in large intestinal segments of these models and their sensitivity to angiotensin II antagonism. Results: Hyperoxaluria alone (CH) was not associated with changes in colonic oxalate transport, whereas changes in net oxalate transport in distal colon from absorption to net secretion was observed in models with hyperoxalemia (CHH and AH). Angiotensin II receptor antagonism with losartan reduced net colonic oxalate secretion in AH but not CHH. Conclusions: Colonic secretion of oxalate is stimulated in rat models exhibiting hyperoxalemia suggesting a contribution of this extrarenal pathway to regulation of oxalate mass balance in clinical conditions manifesting hyperoxalemia. The transport avenues and regulatory mechanisms may not be identical to those observed during adaptive enteric oxalate secretion in chronic renal failure models.
Assessment of Continuous Intracranial Pressure Recordings in Childhood Craniosynostosis
Authors: Eide Per Kristian , Helseth Eirik , Due-Tønnessen Bernt , Lundar Tryggve
Published: April 2003

In this study, we explored two strategies of assessing continuous intracranial pressure (ICP) recordings in children with craniosynostosis, namely either by computation of the mean ICP or by computation of the accurate numbers of ICP elevations of different durations. The ICP recordings of 121 consecutive patients with a tentative diagnosis of craniosynostosis who underwent continuous ICP monitoring were examined. The relationship between mean ICP and numbers of ICP elevations was defined. The distribution of numbers of ICP elevations between patients either undergoing surgery or conservative treatment was also compared, since the choice of treatment was heavily dependent on the results of ICP monitoring. At the time of ICP monitoring, calculation of mean ICP was the main parameter for assessment of ICP curves. After a median observation period of 16 months, the ICP curves were reexamined by means of the software SensometricsTM Pressure Analyser, which presents the ICP curve as a matrix of numbers of ICP elevations of different levels (20–40 mm Hg) and durations (0.5– 20 min). Since the recording period differed between the cases, the numbers were standardized to a given recording time of 10 h, to allow for comparisons between patients. Cases with a borderline mean ICP during sleep (mean ICP 10–15 mm Hg) constituted 40.5% of the 121 patients. In this group, a rather weak relationship between mean ICP and the number of ICP elevations above 20 mm Hg was found, as well as a relatively high number of ICP elevations above 20 mm Hg of various durations. As compared to the patients undergoing surgery, a rather high number of ICP elevations above 20 mm Hg of various durations was found in patients undergoing conservative treatment. The study confirmed our hypothesis that in children with craniosynostosis, calculation of mean ICP does not describe the ICP curve in a reliable way. Decision-making should also include the computation of the distribution of numbers of ICP elevations, since this procedure represents a more sensitive strategy of detecting intracranial hypertension.
Common Psychiatric Diseases and Human Genetic Variation
Authors: Mukherjee O. , Saleem Q. , Purushottam M. , Anand A. , Brahmachari S.K. , Jain S.
Published: April 2003

Objective: A better understanding of human genetic variation is important in assessing disease epidemiology and phenotypic variation, and may be critical in evaluating genetic aspects of common genetic diseases, such as schizophrenia, bipolar disease and Parkinson’s. These diseases are particularly difficult to investigate as there are few peripheral markers, and although a genetic aetiology has long been suspected, robust findings have been hard to establish. Methods: Variations in alleles at 13 tri-nucleotide gene loci expressed in the brain and implicated in several neurodegenerative diseases, as well as certain other loci, were examined in the Indian population for comparison with other major ethnic groups. Results and Conclusion: In the Indian population, the distribution of alleles at the Machado-Joseph disease locus was similar to the Western European pattern of distribution. Analysis of haplotypes at the locus for Huntington’s disease suggested multiple origins, and possible effects of population admixture because of the recent history of the country. At other alleles of neuropsychiatric interest (dopamine receptor, serotonin receptor, serotonin transporter, alcohol dehydrogenase), allele frequencies in the Indian population differed from other populations. Interspecies comparison suggests a gradual expansion in repeat size, with the exception of the Clock gene, which displays a contraction of CAG repeat numbers. World-wide differences in disease phenotypes need to be explored, and an appreciation of their genetic basis may provide a window of opportunity for improving our knowledge of the underlying genetic mechanisms.
Intrarenal Infusion of Angiotensin-(1–7) Modulates Renal Functional Responses to Exogenous Angiotensin II in the Rat
Authors: Bürgelová Marcela , Kramer Herbert J. , Teplan Vladimír , Veličková Gabriela , Vítko Štefan , Heller Jiří , Malý Jan , Červenka Luděk
Published: April 2003

In the present study we investigated the possible role of angiotensin-(1–7) [Ang-(1–7)] in modulating renal functional responses to intrarenal (i.e.) infusion of angiotensin II (ANG II) in normotensive anesthetized rats. ANG II (6 ng/min, n = 14) decreased glomerular filtration rate (GFR), renal plasma flow (RPF), absolute and fractional sodium excretion by –24 ± 5, –25 ± 6, –44 ± 6 and –28 ± 7%, respectively (p < 0.05). i.r. infusion of Ang-(1–7) (50 ng/min, n = 13) did not significantly alter GFR (+6 ± 4%) but reduced RPF by –19 ± 7% (p < 0.05). Ang-(1–7) increased absolute and fractional sodium excretion by +36 ± 6 and +37 ± 8%, respectively (p < 0.05). Infusion of Ang-(1–7) did not prevent the decreases in GFR and RPF but completely blunted the decreases in absolute (–2 ± 2%) and fractional sodium excretion (–4 ± 4%) induced by ANG II (n = 11). Blockade of the Ang-(1–7) receptor by [7-D-Ala]-Ang-(1–7) (5 µg/min, n = 11) significantly decreased GFR, RPF, absolute and fractional sodium excretion by –28 ± 7, –20 ± 5, –32 ± 7 and –24 ± 4%, respectively (p < 0.05), suggesting that the action of endogenous ANG II is unopposed by compensatory effect of endogenous Ang-(1–7). i.r. infusion of Ang-(1–7) (n = 10) did not alter the effect of Ang-(1–7) receptor blockade on RPF (–21 ± 6%) but blunted its effects on GFR (+4 ± 3%) and absolute (+7 ± 5%) and fractional (+6 ± 4%) urinary sodium excretion probably by displacing the receptor blocker. While exogenous ANG II during blockade of the Ang-(1–7) receptor and the AT2 receptor (by PD 123319; 1 µg/min i.r., n = 9) resulted in the same decreases in absolute and fractional sodium excretion (–39 ± 8 and –38 ± 6%, respectively, p < 0.05) as did ANG II in the absence of Ang-(1–7) receptor blockade. These results suggest that in normotensive rats high i.r. Ang-(1–7) concentration attenuates the tubular, i.e. sodium reabsorptive effect, but not the vascular effect of exogenous i.r. ANG II. Results obtained during blockade of Ang-(1–7) and of AT2 receptors imply that AT2 receptors play a role in tubular sodium reabsorption in the presence of high ANG II concentration
Effect of Spironolactone on Impaired Fibrinolysis of Hypertensive Patients
Authors: Yalcin Ahmet Ugur , Dincer Murat , Aslan Vahap , Gulbas Zafer
Published: April 2003

Background/Aims: Angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonists have beneficial effects on impaired fibrinolytic activity of hypertensive patients. The aim of the study was to evaluate the effect of antialdosterone treatment on impaired fibrinolysis of hypertensive patients. Methods: Fourteen hypertensive outpatients and 14 normotensive healthy volunteers participated in this study. Blood samples for plasminogen activator inhibitor-1 (PAI-1) antigen and tissue plasminogen activator (t-PA) antigen were obtained at baseline in all patients and control subjects. Then all hypertensive patients used spironolactone 50 mg/day for a week. Blood samples were again obtained after a week of spironolactone treatment. Results: The mean basal plasma level of PAI-1 of hypertensive patients was higher than those of the normotensive control group (60.98 ± 4.2 vs. 24.09 ± 1.61 ng/ml, p < 0.01) The mean basal t-PA level was similar in the hypertensive and control subjects (7.49 ± 0.65 vs. 8.78 ± 0.92 ng/ml, p > 0.05). The mean PAI-1 level decreased after a week of spironolactone treatment (60.98 ± 4.2 vs. 42.99 ± 7.98 ng/ml, p < 0.05). The mean plasma t-PA level of hypertensive patients increased after spironolactone treatment (7.49 ± 0.65 vs. 11.09 ± 1.33 ng/ml, p < 0.05). Conclusion: This study shows that spironolactone improves impaired fibrinolysis in systemic hypertension. It provides evidence for a direct link between aldosterone and the fibrinolytic system in humans.
Some Aspects of Hemostasis in CAPD Patients Treated with Erythropoietin
Authors: Małyszko Jolanta , Suchowierska Ewa , Małyszko Jacek S. , Myśliwiec Michał
Published: April 2003

Background: Bleeding diathesis and simultaneous thrombotic complications may be seen in dialyzed patients. Erythropoietin may shift the precarious balance of the hemostatic system towards thrombosis. Thrombin activatable fibrinolysis inhibitor (TAFI) is a key protein linking coagulation and fibrinolysis. Methods: The effects of 3-month erythropoietin treatment on some hemostatic parameters – TAFI, fibrinolytic activity index (FAI), markers of ongoing coagulation (thrombin-antithrombin complexes and prothrombin fragments 1 + 2), marker of ongoing fibrinolysis (plasmin-antiplasmin complexes) and marker of endothelial cell injury (thrombomodulin) – were studied in 17 patients on continuous ambulatory peritoneal dialysis (CAPD). Patients on CAPD not treated with rHuEPO were also studied. Healthy volunteers served as a control group. 2,000 U erythropoietin was given subcutaneously three times a week. Commercially available kits were used to determine hemostatic parameters. Results: All the hemostatic parameters studied were significantly higher in CAPD patients when compared to the control group. All these hemostatic parameters except the plasmin-antiplasmin complexes did not differ significantly between patients before rHuEPO therapy and patients without rHuEPO. Erythropoietin therapy resulted in a significant decrease in plasmin-antiplasmin complexes, a significant rise in FAI after 3 months of drug administration, and a tendency to decrease the TAFI concentration and activity (after 1 month, p = 0.11 and p = 0.10, respectively; after 3 months p = 0.07 and p = 0.06, respectively). Treatment with erythropoietin did not affect platelet count, prothrombin time, activated partial thromboplastin time, cholesterol, triglycerides, fibrinogen, total protein, albumin, serum iron, ferritin, fibronectin, pH, bicarbonates, creatinine, and urea. Hemoglobin and hematocrit increased significantly after 1 month of the therapy. Conclusion: Short-term treatment with erythropoietin seems to minimally affect hemostasis in CAPD patients.
Heterotopic Pregnancy: Successful Management with Aspiration of Cornual/Interstitial Gestational Sac and Instillation of Small Dose of Methotrexate
Authors: Oyawoye Seye , Chander Bina , Pavlovic Biserka , Hunter Jocelyn , Abdel Gadir Ahmed
Published: April 2003

Objectives: Terminating a corneal pregnancy without jeopardizing a coexistent intrauterine pregnancy. Methods: A 29-year-old woman with a 4-year history of primary infertility became pregnant after in-vitro fertilization and embryo transfer. A heterotopic pregnancy with a left cornual and intrauterine sacs was confirmed by early transvaginal scan examinations. The ectopic sac was aspirated under ultrasound guidance followed by local injection of 12.5 mg methotrexate. This was followed by serial ultrasound scans and serum βhCG assays. Results: The fetal pole in the ectopic pregnancy disappeared following the procedure. She had no significant vaginal bleeding or any other unusual symptoms. The intrauterine pregnancy progressed satisfactorily until spontaneous onset of labour and vacuum extraction delivery at 39 weeks. The baby weighed 2.9 kg. Conclusions: Local injection of low-dose methotrexate following aspiration of a cornual pregnancy proved effective in halting the ectopic trophoblasts’ growth without adversely affecting a coexistent intrauterine pregnancy. The injected ectopic trophoblasts resolved quickly despite the small dose of methotrexate used. This technique avoided a more costly surgical treatment with its associated risks in subsequent pregnancies.
Neural Tube Defects in the Offspring of Thalassemia Carriers
Authors: Ibba Rosa Maria , Zoppi Maria Angelica , Floris Marcella , Manca Fabiola , Axiana Carolina , Cao Antonio , Monni Giovanni
Published: April 2003

Objectives: The risk of neural tube defects (NTDs) is negatively correlated with maternal folate levels in early pregnancy. Thalassemia carriers often have reduced red cell folate contents. The aim of this study was to verify whether thalassemia carriers are at increased risk of having offspring with a NTD. Methods: We retrospectively evaluated the prevalence of thalassemia carriers among 75 women who had prenatal diagnoses of NTDs made at our center. Results: The prevalence of β-thalassemia carriers among the affected pregnancies was significantly higher than in the general population (22.5 versus 14%, p < 0.05, χ2 test). Conclusion: Although inconclusive, these data indicate that folate supplementation is mandatory among women with thalassemia who are planning a pregnancy.
Fetal Biophysical Profile and Cerebro-Umbilical Ratio in Assessment of Perinatal Outcome in Growth-Restricted Fetuses
Authors: Habek Dubravko , Hodek Branko , Herman Radoslav , Jugović Domagoj , Čerkez Habek Jasna , Salihagić Aida
Published: April 2003

Aim: To examine the value of the fetal biophysical profile (FBP) and the Doppler cerebro-umbilical ratio (C/U) in the assessment of perinatal outcome in growth-restricted and hypoxic fetuses. Study Design: The prospective clinical study included 87 pregnant women with singleton pregnancies at 28–42 weeks of gestation with clinically verified intrauterine growth restriction (IUGR). After assessment of FBP, flow velocity waveforms from the umbilical and middle cerebral arteries were recorded and the C/U ratio was calculated. The C/U ratio and FBP were assessed twice a week. At delivery, umbilical arterial pH, the occurrence of meconium-stained amniotic fluid (MAF), Apgar score at 5 min and the incidence of cesarean sections were used as outcome parameters. Results: The mean FBP value was 5.5 ± 0.96 in cases with MAF, and 6.88 ± 0.26 in cases without MAF. Also, there was no statistical significance in the relation between the C/U ratio and the appearance of MAF. At pH >7.2, the mean FBP value was 7.11 ± 0.23, while it was 2.83 ± 0.79 in newborns with acidosis. Both FBP and C/U values were statistically correlated with pH (p < 0.01). The mean umbilical arterial pH was 7.31 ± 0.0 at a C/U ratio of ≧1 and 7.21 ± 0.03 at a C/U ratio of <1. In cases with Apgar scores of 8–10, the mean FBP value was 7.28 ± 0.23, at Apgar scores of 5–7 it was 3.9 ± 0.52, while at Apgar scores of 0–4 the mean FBP value was 1.5 ± 0.5. The mean Apgar score at 5 min was 9.54 ± 0.09 at a C/U ratio of ≧1, and 8.12 ± 0.49 at a C/U ratio of <1. The mean FBP value in cases of vaginal delivery was 7.55 ± 0.31. In cesarean section deliveries, the mean FBP value was 5.97 ± 0.37. Also, there was a high frequency of cesarean sections in growth-restricted fetuses with a C/U ratio of <1 (p < 0.05), i.e. slightly less than FBP. Conclusions: FBP and C/U ratio were associated with low arterial pH, low Apgar score and the rate of cesarean sections (p < 0.05), but there was no association between FBP or C/U ratio and the appearance of MAF (p > 0.5). Due to their good predictive value the FBP and C/U ratio could be used in the prenatal monitoring of growth-retarded and hypoxic fetuses. These two methods can be used as important parameters in the decision to end pregnancies with IUGR, when pathological values occur. Thus a reduction in perinatal morbidity, mortality and the incidence of infants with poor neurologic outcome can be expected.
Pre- and Perinatal Relations of Hemophilia A and B
Authors: Beke Artúr , Bán Zoltán , Nagy Bálint , Tóth-Pál Ernő , Papp Csaba , Csaba Ákos , Papp Zoltán
Published: April 2003

Objective: The authors conducted a retrospective study of obstetric and genetic data, obstetric problems, and pregnancy outcome by investigating 149 pregnancies of patients who received genetic counselling because of hemophilia A or B over a 20-year period. Methods: In cases with a heterozygous mother, fetal sex was determined. In 23 of 35 cases with male fetuses, a DNA examination was performed. In cases with hemophilic male fetuses, the couple made a decision on whether or not to continue the pregnancy after thorough counselling regarding genetic risk. Hemophilia A occurred 135 pregnancies (98 pregnancies from 55 heterozygous mothers and 37 pregnancies from 20 hemophilic fathers). Hemophilia B occurred in 14 pregnancies (9 pregnancies from 3 heterozygous mothers and 5 pregnancies from 4 hemophilic fathers). Results: In pregnant women who were carriers of hemophilia A, 32 of the fetuses were male, and DNA examinations were performed in 22 cases. In 16 cases abortions were induced (in 10 cases hemophilia was confirmed by DNA examination), and in 4 of 16 deliveries affected males were born (the disease was confirmed by DNA examination during pregnancy). Of 3 confirmed male fetuses of heterozygous women with hemophilia B, 1 healthy male was born. In 2 cases abortions were induced (in 1 case on the basis of DNA diagnosis). Conclusions: In cases of heterozygous mothers (hemophilia A and B together) the rate of spontaneous abortions was 13.1%. The rates of premature deliveries (8.2%) and cesarean sections (8.2%) were no higher than national average. The rate of bleeding complications during pregnancy was 18.7%, in 2.7% of cases transfusions were necessary. In case of hemophilic fathers (in heterozygous female fetuses the hemostasis may change from the fetal side) the rate of bleeding complications during pregnancy was 18.2%. In terms of deliveries, obstetrical bleeding complications occurred in 12.2%, atonia in 2%, curettage after delivery in 4.1%, and transfusion in 10.2% of the heterozygous mothers with hemophilia A and B combined. Neonatal complications were cerebral hemorrhage in 1 case and bleeding from the umbilical stump in another case (both newborns were hemophilic males). In connection with delivery, there was no sign of hematoma development on the skull of the newborns, nor were transfusions necessary. In cases of paternal disease the rate of curettage was 6.7% and there were no neonatal or other obstetrical complications.
Prenatal Diagnosis of Double Autosomal Mosaicism (47,XX,+8/47,XX,+14): Phenotype and Molecular Cytogenetic Analysis on Different Tissues
Authors: Matheson Jolie K.B. , Matheson Victor A. , McCorquodale Maureen , Santolaya-Forgas Joaquin
Published: April 2003

A female fetus with multiple congenital anomalies was found to have double autosomal mosaicism, 47,XX,+8/ 47,XX,+14 on chromosome analysis via amniocentesis. At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects. Fluorescence in situ hybridization demonstrated a marked discrepancy in cell line populations in the tissues examined.
Prenatal Diagnosis of a Vein of Galen Aneurysm
Authors: Has Recep , Günay Secil , Ibrahimoglu Lemi
Published: April 2003

We present the prenatal diagnosis of a vein of Galen aneurysm in a 34-week fetus. The aneurysm was 8 × 3.5 × 3 cm in dimension, and located posterior to the third ventricle. Color flow examination revealed a turbulent flow in the lesion. There was significant cardiomegaly. Prenatal ultra-fast magnetic resonance imaging was used to view the malformation in three dimensions. Although the pregnancy continued uneventfully, the fetus died of congestive heart failure on the 3rd day postpartum. The value of antenatal sonography and magnetic resonance imaging in the prediction of prognosis is discussed.
Impaired Cerebral Glucose Metabolism in Eclampsia: A New Finding in Two Cases
Authors: Zunker Peter , Georgiadis Alex L. , Czech Norbert , Golombeck Kirstin , Brossmann Joachim , Deuschl Günther
Published: April 2003

The pathophysiology of the reversible neurological manifestation in eclamptic women remains unclear. We report on 2 women with eclampsia who were repetitively examined by (1) transcranial Doppler (TCD), (2) magnetic resonance imaging (MRI) including T1- and T2-weighted images, fluid attenuated inversion recovery sequence, dynamic susceptibility-weighted perfusion imaging and magnetic resonance angiography (MRA), and (3) 18fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET). In both cases repetitive TCD revealed no signs of vasospasm; the same was true for MRA. MRI perfusion imaging showed completely homogenous cerebral blood flow in both cases. In the initial phase T2-weighted images revealed hyperintensities in both patients (predominantly bilateral frontal and parietal in 1 and in the temporo-occipital subcortex and the basal ganglia in the other). FDG-PET showed inhomogeneous glucose metabolism (GM) in both patients. Primary increased glucose utilization in the hyperintense T2-weighted areas as well as an attenuated GM parieto-occipital were observed in the 1st case; a high GM was found bilaterally in the basal ganglia and an attenuated one in the occipital cortex in the 2nd. In both cases MRI, and FDG-PET normalized within 3 weeks. These case reports document an altered cerebral GM in the presence of homogenous perfusion in eclamptic women. The high GM may be explained by a decoupling of cerebral perfusion and GM, possibly indicating an increased neuronal activity. The attenuation of the GM is most probably due to a deafferentation of cortical neurons.
Sonographic Measurement of the Fetal Iliac Angle in Trisomy 21, 18 and 13
Authors: Belics Zoran , Beke Artur , Csabay László , Szabó István , Papp Zoltán
Published: April 2003

Objective: To determine whether iliac wing angle measurement in second trimester fetuses is a useful sonographic marker for the detection of trisomy 21, 18 and 13. Methods: During the period between September 1998 and September 2001, 406 fetal iliac angle measurements were performed in women in the second trimester of their pregnancies. The iliac angle measurements in fetuses with trisomy 21 (n = 25), trisomy 18 (n = 10) and trisomy 13 (n = 5) were compared with iliac angle measurement in fetuses with normal karyotypes (n = 333). Results: The mean iliac wing angle in the fetuses with trisomy 21 was 92.67 and 79.35° and 74° in fetuses with trisomy 18 and 13 (the mean iliac wing angle in the healthy fetuses was 70.09°). Conclusion: The proven larger iliac wing angle in neonates with Down’s syndrome can be demonstrated sonographically during the pregnancy, especially during the second trimester, and may be useful in prenatal screening of trisomy 21. The sonographic measurement of the fetal iliac angle cannot be used as a marker for trisomy 18 and 13. We have shown that fetuses with trisomy 18 and 13, on average, have iliac angles only a few degrees larger than healthy fetuses.
Major Depression with Ischemic Heart Disease: Effects of Paroxetine and Nortriptyline on Measures of Nonlinearity and Chaos of Heart Rate
Authors: Yeragani Vikram K. , Roose Steven , Mallavarapu Mallika , Radhakrishna R.K.A. , Pesce Vanessa
Published: April 2003

Depression is associated with increased cardiovascular mortality in patients with preexisting cardiac illness. A decrease in cardiac vagal function as suggested by a decrease in heart rate variability (HRV) or heart period variability has been linked to sudden death in patients with cardiac disease as well as in normal controls. Recent studies have shown decreased vagal function in cardiac patients with depression as well as in depressed patients without cardiac illness. In this study, we compared 20 h awake and sleep heart period nonlinear measures using quantification of nonlinearity and chaos in two groups of patients with major depression and ischemic heart disease (mean age 59–60 years) before and after 6 weeks of treatment with paroxetine or nortriptyline. Patients received paroxetine, 20–30 mg/day or nortriptyline targeted to 190–570 nmol/l for 6 weeks. For HRV analysis, 24 patients were included in the paroxetine treatment study and 20 patients in the nortriptyline study who had at least 20,000 s of awake data. The ages of these groups were 60.4 ± 10.5 years for paroxetine and 60.8 ± 13.4 years for nortriptyline. There was a significant decrease in the largest Lyapunov exponent (LLE) after treatment with nortriptyline but not paroxetine. There were also significant decreases in nonlinearity scores on SnetPR and SnetGS after nortriptyline, which may be due to a decrease in cardiac vagal modulation of HRV. SnetGS and awake LLE were the most significant variables that contributed to the discrimination of postparoxetine and postnortriptyline groups even with the inclusion of time and frequency domain measures. These findings suggest that nortriptyline decreases the measures of chaos probably through its stronger vagolytic effects on cardiac autonomic function compared with paroxetine, which is in agreement with previous clinical and preclinical reports. Nortriptyline was also associated with a significant decrease in nonlinearity scores, which may be due to anticholinergic and/or sympatholytic effects. As depression is associated with a strong risk factor for cardiovascular mortality, one should be careful about using any drug that adversely affects cardiac vagal function.
Diabetic Dyslipidaemia in Kuwait
Authors: Akanji Abayomi O.
Published: April 2003

About 15% of the adult Kuwaiti population has type 2 diabetes and over 50% are hyperlipidaemic by current diagnostic criteria. Not surprisingly, coronary heart disease (CHD) is the leading cause of death in Kuwait. Reports from coronary care units in Kuwait suggest that 40–80% of the CHD patients were diabetic and 50–80% hyperlipidaemic. The pattern worldwide is similar. International guidelines have therefore consistently recognised diabetes as a major risk factor for CHD. In our Lipid Clinic population in Kuwait, about 30% are diabetic. The commonest lipid abnormalities seen in Kuwaiti diabetic patients, as elsewhere, are hypertriglyceridaemia with low HDL levels and variable LDL levels. About 75% of the subjects had either mixed hyperlipidaemia or predominant hypertriglyceridaemia. There are possibly some compositional changes in LDL in the diabetic subjects in that there were important differences in the statistical relationships between LDL and HDL and their respective apolipoproteins – apo B and apo A-1 in diabetic as compared to non-diabetic subjects. Other important observations made in diabetic subjects in Kuwait are: (i) similar serum Lp (a) levels and pattern of apo(a) polymorphism with non-diabetic subjects, with no demonstrable relationship between serum levels of Lp(a) and insulin/insulin sensitivity, although with CHD, Lp(a) levels were increased; (ii) diabetic hyperlipidaemic subjects had elevated PAI-1 levels with significant correlations between blood PAI-1 and insulin levels suggesting underlying insulin resistance (syndrome X). Various landmark trials of cholesterol-lowering therapies in the prevention of CHD have consistently demonstrated near-normalization of the increased CHD risk in diabetes. Our experience in Kuwait suggests that diabetic patients and others with mixed hyperlipidaemia benefit from tight glycaemic control, appropriate advice on diet and exercise with regular reinforcement by continuing contact with professional dietitians and regular availability of drugs where prescribed. Often, it is the regular compliance with medication that is important, rather than the specific medication used particularly where HMG CoA reductase inhibitors (statin drugs) are not always available. A useful guideline for management of dyslipidaemia in diabetes is suggested.
Angiographic Comparison of Coronary Artery Disease in Arab Women with and without Type II Diabetes mellitus
Authors: Thomas Christus S. , Cherian George , Hayat Nasser J. , Varma Latha K.
Published: April 2003

Objective: To compare angiographic features in women with and without type II diabetes mellitus. Subjects and Methods: One hundred and six consecutive women who underwent diagnostic coronary angiography in the Chest Diseases Hospital, Kuwait, were chosen for the study. Quantitative coronary angiography was performed and the angiographic features were assessed. Results: Eighty-two patients had coronary artery disease. Of these, 59 (72%) had type II diabetes mellitus and 23 (28%) were non-diabetics. Segmental disease involving the mid and distal left anterior descending artery was more common in diabetics than non-diabetics. Diabetics had a greater number of long lesions and more distal coronary artery disease. However, the caliber and suitability of the distal vessels for grafting was similar. Conclusion: Angiographic severity of coronary artery disease in this selective group of mostly Arab women was more in those with type II diabetes mellitus than non-diabetics. However, the distal luminal diameter was similar in both groups.
The Global Epidemic of Atherosclerotic Cardiovascular Disease
Authors: Yusuf Salim , Ôunpuu Stephanie , Anand Sonia
Published: April 2003

Of the 50 million deaths that occur in the world, 40 million occur in developing countries. Already a substantial proportion of these deaths are due to cardiovascular diseases. It is projected that by the year 2025 well over 80–90% of all the cardiovascular diseases in the world will be occurring in low income and middle income countries. This increase in cardiovascular disease is due to a number of causes which include the following: (1) conquest of deaths in childhood and infancy from nutritional deficiencies and infection; (2) urbanization with increasing levels of obesity; (3) increasing longevity of the population so that a higher proportion of individuals reach the age when they are subject to chronic diseases, and (4) increasing use of tobacco worldwide. In most countries in the world other than those in the West, the burden of disease is still due to a combination of infections and nutritional disorders as well as those due to chronic diseases. This double burden of disease poses a challenge that is not only medical and epidemiological, but also social and political. Tackling this projected global epidemic of cardiovascular disease therefore needs policies that combine sound knowledge of prevention, good clinical care, but also deals with the allocation of resources for both individual level and community level preventive strategies. The former involves dealing with high-risk individuals through appropriate medical and therapeutic interventions. The latter involves societal level changes including laws that curb the use of tobacco, and strategies that promote physical activities, and appropriate nutrition.
Generalized Eruptive Keratoacanthoma of Grzybowski: Follow-Up of the Original Description and 50-Year Retrospect
Authors: Schwartz Robert A. , Błaszczyk Maria , Jablonska Stefania
Published: April 2003

We report a follow-up of the original case of eruptive multiple keratoacanthoma (KA) described by Grzybowski in 1950 which did not show malignant transformation within 16 years after the onset of the disease in spite of a very widespread cutaneous involvement. There was no associated internal malignancy or any systemic disease either, and the patient died of a myocardial infarction unrelated to his cutaneous disorder. This case followed up for such a long time provides further confirmation that this variety of KA does not show invasive growth and usually does not progress into squamous cell carcinoma
Darier Disease with Paired Segmental Manifestation of Either Excessive or Absent Involvement: A Further Step in the Concept of Twin Spotting
Authors: Itin Peter H. , Happle Rudolf
Published: April 2003

For the first time, we describe a case of type 2 segmental Darier disease with concomitant band-like areas of healthy skin. This clinical observation gives a further hint for the understanding of type 2 segmental manifestations in autosomal dominant diseases. We had observed a 17-year-old patient with Darier disease since the age of 13 years. On the frontal aspect of his body, the lesions were found to be diffusely and rather symmetrically disseminated. On the back, however, a band-like pattern of pronounced involvement with concomitant streaks of healthy skin, both following the lines of Blaschko, was noted. Type 2 segmental manifestation of autosomal dominant disorders can be explained by the assumption that the individual carries a germline mutation that gives rise to a diffuse, nonsegmental distribution of the disease. In addition, a postzygotic mutation occurring at an early developmental stage would result in loss of heterozygosity and give rise, in a segmental area, to a homozygous or hemizygous state of the mutation. This would explain the enhanced severity of the segmental lesions. Theoretically, an early event of mitotic recombination should give rise, simultaneously, to a clone of cells that are homozygous for the corresponding wild-type allele, and for this reason paired segmental areas of either excessive or absent involvement, in the form of twin spotting, should occur on the background of an ordinary, nonsegmental phenotype, as exemplified by Happle and König in a case of epidermolytic hyperkeratosis of Brocq. These authors stated that, in autosomal dominant skin disorders, segmental areas of healthy skin will usually be difficult to recognize. This may explain why such a twin spot phenomenon has so far not been encountered in Darier disease.
Ivermectin-Responsive Demodex Infestation during Human Immunodeficiency Virus Infection
Authors: Aquilina C. , Viraben R. , Sire S.
Published: April 2003

We report the case of a 56-year-old HIV-seropositive man who presented a facial Demodex infection developed 2 months after initiation of highly active antiretroviral therapy. The Demodex infection was confirmed by scrapings and histopathologic examination and by the dramatic response to antiparasitic treatment with oral ivermectin associated with 5% permethrin cream.
Vitamin-D-Dependent Rickets Type 2
Authors: Hochberg Ze’ev
Published: April 2003

Vitamin-D-dependent rickets type 2 results from autosomal recessive mutations of the vitamin D receptor gene. With congenital total body alopecia and onset of rickets during the second half of the first year of life, patients display rapidly progressing rachitic bone changes, hypocalcemia and secondary hyperparathyroidism. This article describes extensive personal experience with about one third of the world’s reported cases, their clinical course, the physiological consequences, diagnostic steps, molecular findings and therapeutic approach, as they developed over the course of the last 25 years.
Apparent Increase in Type I 5’-Deiodinase Activity Induced by Antiepileptic Medication in Mentally Retarded Subjects
Authors: Premachandra B.N. , Radparvar A. , Burman K. , Williams I.K.
Published: April 2003

Background/Objectives: Thyroid function measurements in 3 mentally retarded patients treated with antiepileptic drugs (phenytoin or carbamazepine) showed normal thyroid-stimulating hormone (TSH) responses in spite of markedly low levels of total thyroxine (T4), triiodothyronine (T3), and free thyroxine (FT4) concentrations; free triiodothyronine (FT3), as well as mean thyroxine-binding globulin (TBG) concentrations were normal. The objective of the present investigations was to determine if antiepileptic medication in these patients contributed to the disparate TSH and thyroid hormone (TH) levels. Methods: Thyroid tests and other laboratory parameters were measured by conventional techniques. Results: Circulating TH changes noted in retarded patients were similar to those observed in control subjects receiving carbamazepine alone. Reverse T3 (rT3) levels in all patients were either undetectable or below the normal range. Conclusions: As type I 5′-deiodinase has a higher affinity for rT3 than T4, an increased activity of this enzyme would enhance rT3 deiodination and reduce serum rT3 concentration whereas enhanced T4 deiodination would aid in normalizing intracellular FT3 concentration. The finding of normal serum FT3 concentration was consistent with normal TSH response and clinical euthyroidism in both retarded and control subjects. While phenytoin-induced increase in type I 5′-deiodinase has been previously noted, the present studies demonstrate a similar effect of carbamazepine on 5′-deiodinase.