bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994–1999 — the experience of a joint fetal–pediatric cardiology unit
Authors: Paladini Dario , Russo MariaGiovanna , Teodoro Adele , Pacileo Giuseppe , Capozzi Giovanni , Martinelli Pasquale , Nappi Carmine , Calabrò Raffaele 
Published: September 2002

AbstractObjectivesTo analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus.MethodsFrom January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto‐neonatal outcome.ResultsCHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age <25 weeks was 65.2%. Evolutive changes determined progressive prognostic deterioration in 21 cases (5%), consisting of semilunar valve obstructions and development of ventricular hypoplasia.ConclusionsThe high association rate with extracardiac and chromosomal anomalies (29.3% and 25.9%) and the possible progressive prognostic deterioration require a multidisciplinary team for correct management and follow‐up. Survival of fetuses with certain CHD is severely reduced, in comparison with postnatal figures, for the common association with aneuploidies. Copyright © 2002 John Wiley & Sons, Ltd.
Shortened fetal long bones: a possible in utero manifestation of placental function
Authors: Zalel Yaron , Lehavi Ofer , Schiff Eyal , Shalmon Bruria , Cohen Shlomi , Schulman Adrian , Achiron Reuven 
Published: September 2002

AbstractShortened fetal long bones (SFLB) are usually indicative of a skeletal dysplasia. Our aim in this observational retrospective study was to describe a new association between SFLB, small for gestational age (SGA) fetuses and placental abnormalities, and to suggest an aetiologic explanation. During the last decade we have evaluated nine cases in which SFLB (more than 2SD below the mean) was associated with SGA, abnormal maternal serum placental hormones and abnormal placental sonography. Six cases had significantly increased second trimester maternal serum βhCG and four developed toxaemia of pregnancy or had chronic hypertension. On histology, mature placentas with vascular abnormalities, including chorangiosis, large infarcts and slightly increased syncytial knots were noted. The combination of SFLB, SGA fetuses and placental abnormalities (sonographic, as well as histological) suggested a possible common pathway in the aetiology of this association. Copyright © 2002 John Wiley & Sons, Ltd.
Prenatal diagnosis of Niemann–Pick diseases types A, B and C
Authors: Vanier Marie T. 
Published: September 2002

AbstractPrenatal diagnosis of Niemann–Pick disease types A and B is routinely accomplished by sphingomyelinase assay. For Niemann–Pick type C disease, demonstration of an abnormal intracellular cholesterol trafficking is a complex procedure, and mutational analysis (NPC1 or NPC2/HE1 gene), whenever feasible, represents a major advance. Copyright © 2002 John Wiley & Sons, Ltd.
Early prenatal diagnosis of major cardiac anomalies in a high‐risk population
Authors: Comas Gabriel C. , Galindo A. , Martínez J. M. , Carrera J. M. , Gutiérrez‐Larraya F. , de la Fuente P. , Puerto B. , Borrell A. 
Published: September 2002

AbstractObjectiveTo examine the accuracy of early fetal echocardiography performed in a high‐risk population combining transvaginal and transabdominal routes.MethodsA series of 330 high‐risk pregnancies were screened by transvaginal and transabdominal scan at 12–17 weeks' gestation in a prospective multicentre trial in Spain between September 1999 and May 2001. A total of 334 fetal heart examinations were performed, including four twin pregnancies. Maternal age ranged from 17 to 46 years (mean 33 years with 36% of women over 34 years). The median gestational age at scan was 14.2 weeks (range 12–17 weeks). For each fetus, visualization of the four‐chamber view, the origin of the great arteries, aortic and ductal arches and systemic venous return was attempted in a segmental approach. B‐mode and colour/pulsed Doppler flow imaging were used in all cases. The duration of complete heart examination was less than 30 minutes. The examinations were performed by three experienced operators. Reliability was assessed by conventional transabdominal echocardiography at 20–22 weeks, by postnatal follow‐up in the first three months of life, and/or by autopsy in cases of termination of pregnancy.ResultsThe rate of successful visualization of the fetal heart was 94.6% (316/334). In 48 out of 334 (14.4%) fetuses the final diagnosis was abnormal. In 38 out of 48 (79.2%) cases with heart defects the diagnosis was suspected at early echocardiography. In the group with congenital heart defects, 27 cases had an abnormal karyotype (56.3%) and 31 cases showed extracardiac anomalies (64.6%). There were 10 false‐negative cases at early scan. There were no false‐positive diagnoses.ConclusionsThis experience stresses the usefulness of early fetal echocardiography when performed by expert operators on fetuses specifically at risk for cardiac disease. The high rate of successful visualization of the fetal heart provides a reliable diagnosis of major cardiac defects at this early stage of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals†
Authors: M. Marteau Theresa , Nippert Irma , Hall Sue , Limbert Caroline , Reid Margaret , Bobrow Martin , Cameron Alan , Cornel Martina , van Diem Mariet , Eiben Bernd , García‐Miñaur Sixto , Goujard Janine , Kirwan Donna , McIntosh Karen , Soothill Peter , Verschuuren‐Bemelmans Corien , de Vigan Catherine , Walkinshaw Stephen , Abramsky Lenore , Louwen Frank , Miny Peter , Horst Jürgen 
Published: September 2002

AbstractObjectiveTo describe the association between the outcomes of pregnancies diagnosed with Klinefelter syndrome (KS) and the speciality of the health professional providing pre‐ and post‐diagnostic counselling.MethodData were extracted from the case notes of the 111 cases of KS diagnosed prenatally between 1986 and 1997 in eight geographical regions in five European countries. The data extracted included: outcome of pregnancy, maternal age, social class, parity, gestational age at diagnosis, year of diagnosis and specialities of the health professionals conducting pre‐ and post‐diagnosis consultations.ResultsThe overall termination rate was 44% (49/111: 95% confidence interval: 35 to 54). Using multivariable logistic regression analysis, the only significant predictor of continuation of the pregnancy was the specialities of the health professionals conducting post‐diagnosis counselling: the affected pregnancy was more likely to continue when post‐diagnosis counselling involved only a genetics specialist (relative risk: 2.42 (1.14 to 5.92)).ConclusionThere is an association between whether or not a woman terminates a pregnancy affected by an unfamiliar fetal anomaly and the professional background of the health professional providing post‐diagnostic counselling. The causal nature of this association remains to be determined. Copyright © 2002 John Wiley & Sons, Ltd.
Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination
Authors: Sagi Michal , Meiner Vardiella , Reshef Nurith , Dagan Judith , Zlotogora Joel 
Published: September 2002

AbstractSex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result of a test carried out for another purpose. For most SCAs, the prognosis is milder and less predictable than trisomy 21, and therefore parents are faced with a difficult decision regarding the option of pregnancy termination. While studies from Europe and the USA report a declining trend in termination rates for SCA, our local experience is different. During the period 1989–1998, we diagnosed 60 SCA (including mosaics) in 20 106 amniocenteses (0.29%) and 48 (80%) of these pregnancies were terminated, a significantly higher proportion than has been reported in Europe and the USA. The present study shows that the difference between our experience and others' may be related to differences in cultural norms and values. Thirty women were interviewed, of whom 23 terminated and seven continued the pregnancy. Interview analyses showed that the main reason behind the decision to terminate the pregnancy was associated with the parents' fear of non‐specific abnormality of the child, and concerns about abnormal sexual development. Although genetic counseling practised in our center aims to be non‐directive, 56% of the women reported that the counseling was either directive towards termination, or that they at least felt that the counselor's attitude was pro‐termination. Most women (93%) reported themselves as having come to terms with their decision. Copyright © 2001 John Wiley & Sons, Ltd.
Prenatal diagnosis of mosaicism for triploidy and trisomy 13
Authors: Phelan Mary C. , Curtis Rogers R. , Michaelis Ron C. , Lynn Moore C. , Blackburn Will 
Published: September 2002

AbstractMosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live‐born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.
Embryonic and fetal globins are expressed in adult erythroid progenitor cells and in erythroid cell cultures
Authors: Lau Elizabeth T. , Kwok Yvonne K. , Chui David H. K. , Wong Hong Soo , Luo Hong Yuan , Tang Mary H. Y. 
Published: September 2002

AbstractThe understanding of human hemoglobin ontogeny during development is of biological and clinical importance. Molecular and immunocytological techniques were used to study the expression of embryonic zeta (ζ), epsilon (ε), and fetal gamma (γ) globin genes in newborn cord blood, peripheral blood from men, pregnant and non‐pregnant women, and in vitro mononuclear cell cultures. We have shown that embryonic and fetal globin mRNA and peptides are expressed in cultured erythroid cells and in circulating blood cells from newborns, adult non‐pregnant women and from men. The findings suggest that during erythroid cell differentiation in newborns and adults, there is a transient recapitulation of sequential globin chain expression as found during embryonic and fetal development. Furthermore, these findings underscore the need for caution in using embryonic and fetal globin chains as markers to identify erythroid cells of fetal origin in maternal circulation for prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.
Pulmonary stenosis and reactive right ventricular hypertrophy in the recipient fetus as a consequence of twin‐to‐twin transfusion
Authors: Marton Tamás , Hajdú Júlia , Papp Csaba , Patkós Péter , Hruby Ervin , Papp Zoltán 
Published: September 2002

AbstractThe present study describes an association between adverse outcome in the twin‐to‐twin transfusion syndrome (TTTS) and pulmonary stenosis or reactive right ventricular hypertrophy. Six discordant monozygotic twin pregnancies with TTTS are described. Ventricular hypertrophy and atrioventricular valvular regurgitation occurred in all the recipient twins with pulmonary valvular stenosis in three cases and infundibular stenosis in one case. The recipient twin in one pair and both twins in another pregnancy died as a consequence of immaturity but the remaining twins all survived. Surgical intervention was required in one baby for valvular pulmonary stenosis. Our observations suggest that elevated blood pressure in the transfusion recipient may play an important role in pathogenesis. We hypothesise that both pulmonary stenosis and right chamber hypertrophy are secondary to hemodynamic changes. Although we have found valvular pulmonary stenosis in three recipients and infundibular stenosis in only one, this (obstruction to outflow) could be due to right chamber hypertrophy. Copyright © 2001 John Wiley & Sons, Ltd.
Prenatal evaluation of fetal renal function based on serum beta2‐microglobulin assessment
Authors: Ciardelli Valentina , Rizzo Nicola , Farina Antonio , Vitarelli Marisa , Boni Paola , Bovicelli Luciano 
Published: September 2002

AbstractThe relationship between fetal renal function (FRF) and fetal serum beta2‐microglobulin (B2MG) was investigated by comparing its value in 112 unaffected fetuses with that of 23 fetuses presenting with urinary tract malformations (UTM). Fetal serum level of B2MG was totally unrelated to gestational age; its value increased in cases of severe impairment of FRF but was similar to controls in all mild uropathies (p<0.05). Evaluating serum B2MG could be beneficial in fetuses with severe renal damage, but is of no use in unilateral UTM since only the global FRF is tested and not the function of each single kidney. Copyright © 2001 John Wiley & Sons, Ltd.
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly
Authors: Thauvin‐Robinet Christel , Rousseau Thierry , Durand Christine , Laurent Nicole , Maingueneau Catherine , Faivre Laurence , Sagot Paul , Nivelon‐Chevallier Annie 
Published: September 2002

AbstractPorencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X‐linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd.
Between pregnancy biological variability of first trimester markers of Down syndrome: implications for screening in subsequent pregnancies
Authors: Spencer Kevin 
Published: September 2002

AbstractIn a group of 149 women who had undergone routine first trimester screening using fetal nuchal translucency thickness (NT) and maternal serum free β‐hCG and pregnancy associated plasma protein‐A (PAPP‐A) in two consecutive pregnancies the within person between pregnancy biological variability of these markers has been assessed. For fetal NT there was no correlation between NT MoM in the first and second pregnancy (r=0.0800). For maternal serum free β‐hCG MoM a significant correlation was observed (r=0.4174) as was also found for PAPP‐A MoM (r=0.3270). The implications for such between pregnancy marker association is that women who have an increased risk of Down syndrome in their first pregnancy are 1.5–2 times more likely to repeat this event in their next pregnancy. This observation may be useful in counselling women in the first trimester screening of a subsequent pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.
A survey of diabetes management in nursing homes: the need for whole systems of care
Authors: Douek Isabelle F. , Bowman Clive , Croxson Simon 
Published: September 2002

AbstractA structured questionnaire survey of nurse managers of the 40 nursing homes in the catchment of a district hospital revealed inconsistencies in diabetes care and unsafe capillary blood testing practice. Seven homes had diabetes management policies; in the 33 homes that did not, management was based on information received at admission being incorporated into the care plan. Regarding the management of ill insulin‐dependent residents, nine homes stated that insulin should be withheld although all homes indicated that they would increase the frequency of blood glucose monitoring and seek advice. 18/40 homes had a policy for the management of a hypoglycaemic episode; those without a policy relied on the knowledge of the trained staff present. Sharing of blood sampling equipment within homes, a risk to infection control, was identified as commonplace. A lack of guidance appeared a major cause of inconsistency in patterns of ongoing care for residents with diabetes. Specific guidelines and training are required to assure diabetes care and clinical governance in care homes. Copyright © 2001 John Wiley & Sons, Ltd.
Self‐monitoring of blood glucose; frequency, determinants and self‐adjustment of treatment in an adult Swedish diabetic population
Authors: Hjelm Katarina , Nyberg Per , Apelqvist Jan 
Published: September 2002

AbstractObjectiveTo analyse the utilisation of self‐monitoring of blood glucose (SMBG) among adult diabetic subjects.MethodsA cross‐sectional study with a standardized interview, a physical examination, and an evaluation of medical records comprising all known diabetic subjects living in six defined primary health care districts in southern Sweden. Of 1861 identified subjects aged >25 years, 90.1% participated. Mean age was 66±0.4 yrs; 94% were diagnosed ≥30 yrs, and 70.4% were not gainfully employed.ResultsSMBG was used by 36.3% of all subjects (20.5% regularly, 15.8% sporadically). In 51.8% of cases regularly performing SMBG the results were used for self‐adjustment of treatment (SAT). In multiple logistic regression analysis SMBG was related to awareness of illness (OR [95% CI]; 2.64[1.59–4.40]), treatment with insulin (2.52 [1.92–3.29]), and inversely related to age (50–69 yrs; 0.70[0.50–0.99], >70 yrs; 0.40[0.28–0.59]). The strongest independent influence on SAT based on SMBG results was awareness of illness (3.42[1.74–6.74]), followed by duration >10 yrs (1.74[1.28–2.38]), and there was an inverse relation to a multiple disease pattern in terms of cardiocerebrovascular disease and age. Living conditions, social position, or treatment location were not evidently related to SMBG or SAT.ConclusionsA large proportion of adult individuals does not use SMBG regularly. Regular SMBG performers do not use it for SAT, and thus the use is not optimized for achieving good glycaemic control and especially with regard to awareness of illness. Copyright © 2001 John Wiley & Sons, Ltd.
Electron‐ and X‐ray‐induced electron emissions from insulators
Authors: Cazaux Jacques 
Published: September 2002

AbstractThe electron emission yields of insulators irradiated with ultra‐short pulsed X‐ray and electron beams differ significantly from those of metals. The main experimental results are reviewed and it is shown that the use of simple models for the transport and for the escape of the generated secondary electrons accounts for the role of the temperature and of the crystalline state on these yields (besides the role of the chemical composition of the insulator of interest).When permanent irradiation is used, charging and damaging effects occur and correlated mechanisms are then considered. The present analysis concerns a wide variety of insulators (from oxides and halides to polymers) investigated with a wide variety of techniques (XPS, AES, SEM, etc.) and various practical consequences are also deduced.© 2001 Society of Chemical Industry
Characterization of non‐conducting materials: a promise of quality and productivity improvements in various industrial fields
Authors: Gressus C Le 
Published: September 2002

AbstractAn increase in reliability and a decrease in production cost of systems that include insulators require a better knowledge of the origins of friction, wear, adhesion, fracture and electric breakdown. By doing this, for example, a manufacturer could adapt his fabrication to the user's operational conditions whereas, at present, he only can offer a catalogue of standard specified products.The macroscopic behaviour of a material depends on the defects therein; these in turn determine the electric charge distribution and the internal energy of the material. Seen in this light, many pioneering results can be understood and used to clarify the experiments required for validating new theories of breakdown or wear.Several laboratories have worked together to demonstrate the direct relationships that exist between the microscopic parameters of charge and energy localization or relaxation and macroscopic behaviour. One essential point was to find how to carry out experiments whilst preserving the material's intrinsic defect state during sample preparation and how to characterize defects related to stresses applied to the material. Another point was to investigate the phenomena that occur at the early stage of wear, fracture and breakdown before catastrophic failure. Therefore the use of time‐ and spatially‐resolved measurements has been essential.This work reviews some pioneering results, pointing out the importance of polarization and conduction on apparently different behaviour (wear, adhesion and breakdown). These results have been explained from classical solid state physics and electrostatics backgrounds. When the experiments were carried out, however, characterization techniques for interpretating the results were missing, so that they did not receive the attention they deserved. Surprisingly, and as discussed in the second part, because these new characterization techniques have not been sufficiently disseminated in industry, these pioneering results and theories have not been practically applied. As a consequence, standard insulator specifications still do not reflect our actual knowledge. In the third part, some examples illustrate technological progress that can be made by combining some new characterization techniques with the standard ones.© 2001 Society of Chemical Industry