bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antenatal Therapy of Smith-Lemli-Opitz Syndrome
Authors: Irons Mira B. , Nores Jose , Stewart Theresa L. , Craigo Sabrina D. , Bianchi Diana W. , D’Alton Mary E. , Tint G. Stephen , Salen Gerald , Bradley Linda A. 
Published: April 2003

<i>Objectives:</i> Smith-Lemli-Opitz syndrome (SLOS) is a recessively inherited disorder caused by an inborn error of cholesterol metabolism that results in deficiency of cholesterol and accumulation of the cholesterol precursor, 7-dehydrocholesterol (DHC) and its epimer, 8-DHC. Affected patients present with congenital anomalies, growth restriction, and mental retardation. Postnatal treatment with cholesterol supplementation has been shown to improve plasma sterol levels and has resulted in improved growth and development in many patients. We hypothesized that prenatal supplementation of cholesterol could potentially arrest some of the adverse consequences of cholesterol deficiency at an earlier stage of development. <i>Methods:</i> SLOS was diagnosed in the third trimester in a fetus initially identified by sonography with intrauterine growth restriction and ambiguous genitalia and confirmed by elevated levels of 7- and 8-DHC in amniotic fluid. Antenatal supplementation of cholesterol was provided by fetal intravenous and intraperitoneal transfusions of fresh frozen plasma (cholesterol level = 219 mg/dl). <i>Results:</i> The in utero transfusions resulted in increased levels of fetal cholesterol, as measured in blood samples obtained by cordocentesis. In addition, fetal red cell mean corpuscular volume rose, which further indicated that the exogenous cholesterol was incorporated into the fetal erythrocytes. <i>Conclusions:</i> Antenatal treatment of SLOS by cholesterol supplementation is feasible and results in improvement in fetal plasma cholesterol levels and fetal red cell volume. SLOS may be added to the growing list of human genetic disorders for which prenatal diagnosis is available and therapeutic intervention may be possible.
Preterm Premature Rupture of Membranes in a Patient with the Hypermobility Type of the Ehlers-Danlos Syndrome
Authors: De Vos M. , Nuytinck L. , Verellen C. , De Paepe A. 
Published: April 2003

<i>Objectives:</i> This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the Ehlers-Danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the severe complications in patients with the vascular type of EDS, including uterine and arterial rupture. Pregnancy outcome in patients presenting the hypermobility type of EDS is poorly documented. <i>Case:</i> A 33-year-old nullipara was referred for preconceptual genetic counseling with a history of easy bruising, generalized joint hypermobility and chronic arthralgia and myalgia. The diagnosis of the hypermobility type of EDS was confirmed on clinical examination. During her first pregnancy, she underwent a prophylactic McDonald cerclage at 14 weeks’ gestation. Premature rupture of membranes occurred at 23 weeks’ gestation. A female infant was delivered at 26 weeks and died 3 h after birth. Electron-microscopic examination showed collagen fibre abnormalities in the fetus’ skin, which were compatible with the diagnosis of EDS. <i>Conclusions:</i> Patients with the hypermobility type of EDS can have an increased risk for pregnancy complications, including prematurity due to cervical incompetence and to premature rupture of membranes. We therefore demand the clinician’s alertness for possible signs of this underdiagnosed type of EDS and recommend the collaboration between the obstetrician and the medical geneticist in the obstetrical management of these patients.
Failure of Amniotic Septostomy in the Management of 3 Subsequent Cases of Severe Previable Twin-Twin Transfusion Syndrome
Authors: Pistorius Lourens R. , Howarth Graham R. 
Published: April 2003

<i>Introduction:</i> Amniotic septostomy has been described as a method to treat twin-twin transfusion syndrome. A case report of 3 patients treated in this way is described. <i>Case report:</i> Three subsequent patients, who presented with twin-twin transfusion syndrome, were treated by amniotic septostomy. All 3 showed initial improvement in the amniotic fluid volume and mobility of the donor fetus. However, all three pregnancies were lost within 5 days of the amniotic septostomy due to ruptured membranes and premature labour. <i>Conclusion:</i> In our experience, amniotic septostomy did not improve the pregnancy outcome in twin-twin transfusion syndrome. Possible reasons for this are discussed.
Continuous Observation of Nitric Oxide Production in the Fetal Rat Brain during Uteroplacental Ischemia
Authors: Asakura Hirobumi , Nakai Akihito , Yokota Akishige , Sekiguchi Atsuko , Koshino Tatsuo , Araki Tsutomu 
Published: April 2003

<i>Objectives:</i> To demonstrate real-time changes in nitric oxide (NO) production within fetal rat brain during uteroplacental ischemia and subsequent reperfusion. <i>Methods:</i> Using a selective microsensor for NO, changes in NO electrocurrent in the brains of 10 fetal rats at gestational day 20 were observed during and after 30 min occlusion of uterine vessels in anesthetized pregnant rats. <i>Results:</i> The NO electrocurrent reached 397 ± 71.0% of the control level 30 min after occlusion and increased throughout the observation (p < 0.05) until placental administration of 1 <i>M</i> of <i>L</i>-NAME. In contrast, no significant changes in NO electrocurrent were found in 7 sham operated rats. <i>Conclusion:</i> An NO-specific microelectric sensor detected excessive NO production by fetal rat brains in response to uteroplacental ischemia.
Multifetal Pregnancy Reduction and Selective Termination: The Canadian Experience
Authors: von Dadelszen Peter , Johnson Jo-Ann M. , Farquharson Duncan F. , Wilson R. Douglas , Seaward P. Gareth R. 
Published: April 2003

<i>Objective:</i> To describe the experience of two Canadian referral centres with multifetal pregnancy reduction (MFPR) and selective termination (ST). <i>Methods:</i> Retrospective chart review of all MFPR and ST procedures during the periods from January 1, 1990, to December 31, 1997 (Vancouver), and from September 1, 1995, to December 31, 1997 (Toronto). Outstanding outcome data were obtained by telephone. All women were managed according to standard protocols. Non-parametric analysis of continuous variables and Fisher’s exact test for categorical variables were used. <i>Results:</i> 61 women underwent transabdominal MFPR (n = 44) or ST (n = 17). Median maternal age: MFPR and ST 33.0 years; gestational age at reduction: MFPR 11.4, ST 20.2 weeks; procedure duration: MFPR 4, ST 10 min. 89% MFPR and 12% ST cases followed assisted reproduction. 7% MFPR and 18% ST pregnancies lost <24 weeks (n.s.). 97% MFPR and 83% ST non-reduced fetuses delivered alive. Median delivery gestational age: MFPR and ST 37 weeks. <i>Conclusions:</i> The results are similar to published series. This procedure has increased options for Canadian couples, offering the procedure ‘close to home’, reducing costs and, more importantly, the significant psychological morbidity following these procedures.
Treatment of Heterotopic Cervical and Intrauterine Pregnancy
Authors: Carreno Carlos A. , King Mary , Johnson Mark P. , Yaron Yuval , Diamond Michael P. , Bush Dana , Evans Mark I. 
Published: April 2003

<i>Objective:</i> To find a suitable technique to selectively terminate a cervically implanted embryo while maintaining viability of a concomitant intrauterine pregnancy. <i>Methods:</i> A 34-year-old patient achieved a twin pregnancy after 4 IVF attempts. Ultrasound revealed a viable intrauterine and cervical pregnancy. Given our experience with KCl injection for fetal reduction, we offered the patient an attempt to reduce the cervical pregnancy. <i>Results:</i> Best visualization in this case was obtained by transabdominal scanning. A 6-inch 20-gauge spinal needle was inserted transcervically and maneuvered into the thorax of the embryo. Fetal heart rate ceased even before KCl could be injected. Then 3 cm<sup>3</sup> of saline were injected to provide better visualization of the cervical fetus, and to confirm absence of heart beat. The patient had minor vaginal bleeding for several days. The intrauterine pregnancy progressed uneventfully through 36<sup>1</sup>/<sub>2</sub> weeks with delivery of a healthy, 2,700-gram newborn. <i>Conclusion:</i> Cervical pregnancy is usually considered a life-threatening event. Other factors such as concomitant intrauterine pregnancy and the patient’s infertility history generally would be secondary concerns. In this case, we were able to selectively terminate the cervical pregnancy, while preserving the intrauterine one, allowing this couple to have a healthy newborn. Further cases will be necessary to appropriately define risk rates for such an approach.
Percutaneous Laser Ablation of Fetal Congenital Cystic Adenomatoid Malformation: Too Little, Too Late?
Authors: Bruner Joseph P. , Jarnagin Barry K. , Reinisch Lou 
Published: April 2003

<i>Objective:</i> Congenital cystic adenomatoid malformation, type III (CCAM III) lesions are large, bulky tumors which can cause mediastinal shift, prevent normal pulmonary growth, and compress the esophagus, thus leading to complications of nonimmune hydrops, pulmonary hypoplasia and polyhydramnios. Because the mortality rate of untreated fetuses with CCAM and hydrops is high, early delivery or intrauterine resection of the enlarged pulmonary lobe (lobectomy) is indicated; however, open fetal resection of CCAM at less than 30 weeks is associated with perioperative mortality that approaches 40%, as well as the usual maternal and fetal morbidity of open fetal surgery. As an alternative, percutaneous laser ablation of a CCAM III lesion with hydrops was attempted. <i>Methods:</i> A 30-year-old G3 P1011 with CCAM III in the left fetal hemithorax developed mediastinal shift, hydrops and polyhydramnios at 23 weeks’ gestation. After pregnancy termination and open fetal resection were declined, an 18-gauge needle was placed into the fetal tumor percutaneously under real-time ultrasonographic guidance, using sterile technique with light sedation. A cleaved 400-μm Nd:YAG laser fiber was passed through the needle lumen, and using a power setting of 15 W, a total of 2,943 J of laser energy was delivered in pulses of 1.0 s at 0.2-second intervals over two sessions one week apart. <i>Results:</i> Although tumor size decreased, the hydrops worsened and fetal death occurred. <i>Conclusions:</i> The fetus with CCAM complicated by hydrops is already so compromised by the advanced state of the disease that insufficient time is available for necrotic tissue reabsorption after minimally invasive therapy with laser energy. Until earlier markers for intervention are determined, percutaneous laser debulking of CCAM is unlikely to be successful.
Age-Dependent Changes of the Kidneys: Pharmacological Implications
Authors: Mühlberg W. , Platt D. 
Published: April 2003

About 40% of the intoxications after drug administration occur in the elderly. A significant proportion of the disease states in elderly patients is related to adverse reactions to prescribed drugs. Declining renal function, a reduction in both renal blood flow and glomerular filtration rate, is a major contributor to drug toxicity in the elderly. Therefore, a review (based on newer papers from Medline) of age-dependent changes of the kidneys and their consequences for drug therapy in geriatric patients is presented. Renal changes that occur with aging are: a decrease of renal weight, a thickening of the intrarenal vascular intima, sclerogenous changes of the glomeruli, and infiltration of chronic inflammatory cells and fibrosis in the stroma. Altered renal tubular function, including impaired handling of water, sodium, acid, and glucose, is also frequently present in old age. Impaired ‘endocrinologic’ functioning manifested by changes of the renin-angiotensin system, vitamin D metabolism, and antidiuretic hormone responsiveness has been reported. The aging kidney is constantly exposed to the effects of a variety of potential toxic processes, i.e., drugs and chronic illnesses including hypertension, diabetes, and atherosclerotic disease. Renal changes that occur with aging also consist of impairment in the ability to concentrate urine and to conserve sodium and water. These physiological changes increase the risks of volume depletion and prerenal type of acute renal failure. A frequent cause of acute renal failure in the elderly is drug-induced nephropathy. Nonsteroidal anti-inflammatory drugs, antibiotics, and diuretics are most often involved. Due to the age-dependent decline of renal function, the pharmacokinetics of many drugs are altered in elderly patients. Therefore, the most important renal function to monitor with aging is the creatinine clearance. Changes in pharmacokinetics of many drugs and most decisions on drug dosage can be based on this information alone, as tubular functions of the kidney decrease at rates paralleling the age-dependent decrease in glomerular filtration rate (which is approximately measured by the creatinine clearance). As a conclusion, age-dependent changes of renal function are not only responsible for changes in pharmacokinetics and pharmacodynamics. In many cases, the kidneys are the target organ of adverse drug reactions too.
Péritonite chimique après rupture iatrogène d’un kyste dermoïde de l’ovaire traité par cœlioscopie
Authors: Achtari C. , Genolet P.M. , Bouzourene H. , De Grandi P. 
Published: April 2003

Le kyste dermoïde est la tumeur ovarienne bénigne la plus fréquente. Sa rupture en péritoine libre peut entraîner une réaction de type péritonite chimique. Il s’agit d’une issue rare mais potentiellement dangereuse. Son traitement peut nécessiter une ou plusieurs réinterventions. Nous rapportons ici le cas d’une patiente opérée en urgence pour une torsion de kyste dermoïde, avec dissémination intrapéritonéale de son contenu lors de la cœliochirurgie. Le contact prolongé du matériel sébacé avec le péritoine a entraîné une péritonite chimique. Deux nouvelles interventions, associées à un traitement anti-inflammatoire systémique, ont été nécessaires à la résolution de la symptomatologie. Nous proposons ici une attitude visant à éviter cette complication: 1) ponction du kyste à l’aide d’un trocard et évacuation de son contenu; 2) extraction du kyste dans un endobag et 3) lavage abondant de la cavité péritonéale.
Intervention with Clarithromycin in Patients with Stable Coronary Heart Disease
Authors: Hansen Stig , Als-Nielsen Bodil , Damgaard Morten , Helø Olav H. , Petersen Lars , Jespersen Christian M. 
Published: April 2003

<i>Background:</i> There is a growing body of evidence linking <i>Chlamydia pneumoniae</i> to the progression of coronary heart disease. Smaller studies have indicated that intervention with macrolide antibiotics might reduce coronary events in patients with cardiovascular diseases. <i>Objective:</i> To describe the design of a large-scale intervention study on the effects of a macrolide antibiotic on coronary events in patients with stable coronary heart disease (documented myocardial infarction and/or angina pectoris). <i>Methods: </i>This study is a double-blind, randomised, placebo-controlled, multicentre study with parallel groups. Patients are randomised to 14 days of treatment with clarithromycin (500 mg, once daily) or matching placebo. The follow-up period is 2 years, and the primary end point is a composite end point of death, non-fatal myocardial infarction or unstable angina pectoris, whichever occurs first. Recruitment began in October 1999 and will be completed in 2000. In total, 4,600 patients will be randomised. <i>Prospectives:</i> The study is powered to detect a reduction in coronary events of 20%. Also, the study will examine the question of whether the presence of a <i>C. pneumoniae</i> antibody titre is associated with a significantly increased risk of future coronary events. Finally, in the case of a significant outcome, it will be possible to test whether the effect is restricted to patients with <i>C. pneumoniae</i> antibodies only, or to a universal effect without any coherence to <i>C. pneumoniae</i> antibodies.
The Analysis of Short-Term Growth
Authors: Hermanussen Michael 
Published: April 2003

The analysis of short-term growth needs repetitive measurements of body stature or of segments of the body. When body stature is measured at monthly intervals, an irregular incremental pattern becomes obvious with a number of large-scale components such as series of prepubertal and pubertal growth spurts, seasonal influences on height gain, and influences of the psychosocial and economic background. When measurement intervals decrease, incremental patterns appear even more irregular, and a number of short-scale components become apparent that are distinct from measurement error. The review summarizes the analysis of short-term growth, and presents the current findings supporting different views on how growth progresses at short term. In particular, observations are presented that suggest growth being a pulsatile, a periodic, a saltatory, and a chaotic event. Some recent animal studies and studies in human newborns are added in detail as they illustrate short-term growth on the basis of accurate 24-hour measurements of the lower leg. The latter investigations support the idea of short-term growth being characterized by chaotic series of ‘mini growth spurts’ that occur at intervals of approximately 4–5 days, not only in human neonates, but also in rats. The amplitude of mini growth spurts ranges between 2 and some 10 mm, and growth velocity of each spurt also varies considerably so that one spurt needs between less than 1 and up to several days for completion.
Serum Insulin-Like Growth Factors I and II Are Not Affected by Undernutrition in Children with Nonorganic Failure to Thrive
Authors: Phillip Moshe , Hershkovitz Eli , Rosenblum Hector , Savion Inbal , Segev Yael , Levy Jacob , Frazer Drora 
Published: April 2003

The aim of our study was to determine the serum levels of IGF-I, IGF-II, and their binding proteins IGFBP-1 and IGFBP-3 in young children 3 months to 2 years of age with nonorganic failure to thrive (NOFTT). 29 children with NOFTT and 32 normal controls were recruited and studied for auxologic and hormonal parameters. The NOFTT group had significantly higher serum concentrations of IGFBP-1 than the control group: 57.7 ± 18 vs. 48 ± 19 µg/l (p < 0.05). IGF-I and IGF-II serum levels were highly correlated to serum IGFBP-3 but there were no differences in the serum IGF-I, IGF-II and IGFBP-3 levels between the groups. We conclude that IGF-I, IGF-II, and IGFBP-3 are not useful for the evaluation of nutritional status in children, under the age of 2 years, with NOFTT.
Effects of Long-Term Growth Hormone Therapy on Adrenal Steroidogenesis in Turner Syndrome
Authors: Balducci R. , Toscano V. , Larizza D. , Mangiantini A. , Galasso C. , Municchi G. , Di Rito A. , Picone S. , Boscherini B. 
Published: April 2003

It has been shown that growth hormone (GH) and insulin-like growth factor-1 (IGF1) enhance steroidogenesis responsiveness to ACTH in cultured adrenal cells. To investigate the GH effect on adrenal steroidogenesis in non-GH-deficient subjects, we studied 9 girls with Turner syndrome (chronological age 5.5–7.2 years; bone age 5–7 years). In all subjects an ACTH test (Synacthen depot, 0.25 mg i.v. with blood samples at 0 and 60 min) was performed basally at 8–9 a.m. and 6 months after GH therapy (1 IU/kg/week). 17-Hydroxypregnenolone (17PGN), 17-hydroxyprogesterone (17OHP), dehydroepiandrosterone (DHA), its sulfate (DHA-S), androstenedione and cortisol were evaluated by radioimmunoassay. Two groups of normal girls were selected as controls: group A age-matched the patients at the start of the study, and group B age-matched the patients at the end of the study. The responsiveness of each hormone to ACTH was expressed as the difference between stimulated and basal values. A p value of < 0.01 was considered to indicate significance. There were no significant differences between pre- and posttreatment basal values of 17PGN, 17OHP, DHA, androstenedione and cortisol in the Turner syndrome patients, whereas a significant increase was observed for basal DHA-S (1.57 ± 0.31; 1.89 ± 0.43 µmol/l, p < 0.01). Comparison of increments before and after GH treatment showed a significant increase in responsiveness to ACTH after GH therapy DHA (p < 0.01). The increase in 17PGN was evident (p < 0.02), but the established significant p value was not reached. No differences for 17OHP, androstenedione and cortisol were found. The stimulated 17PGN/17OHP ratio was significantly higher (p < 0.01) after GH, whereas the 17OHP/androstenedione ratio was considerably lower, but the p value was < 0.02. No differences between pretreatment values with the control group androstenedione was found, whereas basal and stimulated posttreatment values of DHA and stimulated values of 17PGN were higher in patients after GH therapy than in control group B. No differences between the 2 control groups were found. In conclusion our study showed that adrenal steroid responsiveness to ACTH increases in Turner syndrome after long-term treatment with high GH doses. An increase in the number of ACTH adrenal receptors and/or a modulation of enzyme activities may be suggested. The positive or negative pharmacological implications of these data remain to be determined especially when taking into consideration the wide use of GH therapy in non-GH-deficient subjects.
Serum Insulin-Like Growth Factor-I, IGF Binding Protein-3 and IGFBP-3 Protease Activity after Cranial Irradiation
Authors: Tillmann Vallo , Shalet Stephen M. , Price David A. , Wales Jeremy K.H. , Pennells Louise , Soden Joanne , Gill Matthew S. , Whatmore Andy J. , Clayton Peter E. 
Published: April 2003

The relationship between peak growth hormone (GH), insulin-like growth factor I (IGF-I), IGF-I binding protein 3 (IGFBP-3) and IGFBP-3 protease activity was studied in 28 children and adolescents undergoing investigation of pituitary function 0.4–14.2 years after cranial or craniospinal irradiation for the treatment of CNS tumours distant from the hypothalamic-pituitary axis (n = 16) or prophylaxis against CNS leukaemia (n = 12). Seven out of 15 patients with GH deficiency (GHD) (defined as a peak GH concentration <7.5 ng/ml in a stimulation test) had IGF-I <–2 standard deviation score (SDS). None of the 28 patients had serum IGFBP-3 concentrations measured by radioimmunoassay (RIA) <–1.5 SDS with no difference between those with and without GHD. IGFBP-3 concentrations measured by RIA were strongly correlated to IGFBP-3 band density on Western ligand blot (WLB) (r = 0.71; p < 0.0001). IGFBP-3 protease activity was negatively correlated to IGFBP-3 by RIA (r = –0.55; p < 0.01) and to IGFBP-3 by WLB (r = –0.51; p < 0.01). Twenty-two patients had normal IGFBP-3 protease activity (<30% of the activity in pregnancy serum) indicating that serum IGFBP-3 protease activity does not account for the normal levels of IGFBP-3 in RIA.Low serum IGF-I but normal IGFBP-3 concentrations and in the majority normal IGFBP-3 protease activity was found in patients in the years after CNS irradiation. Neither serum IGF-I nor IGFBP-3 can be used as a reliable index of the development of radiation-induced GHD.