bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha‐fetoprotein, unconjugated oestriol, and human chorionic gonadotropin
Authors: Palomaki Glenn E. , Knight George J. , Haddow James E. , Canick Jacob A. , Saller Devereux N. , Panizza Diane S. 
Published: March 2007

AbstractTwo prenatal centres in New England, routinely using a screening protocol for fetal Down syndrome that included maternal serum alpha‐fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG) measurements in combination with maternal age, adopted a separate screening protocol for trisomy 18. That protocol identified a pregnancy as being at high risk when AFP, uE3, and hCG measurements all fell at or below specified cut‐offs (0.75, 0.60, and 0.55 multiples of the median, respectively), regardless of maternal age. Among the first 19 491 women screened, 98 (0.5 per cent) were found to have values which placed them in the high‐risk category. Four of these women were subsequently found not to be pregnant. In two others, samples from non‐pregnant individuals were found to have been incorrectly submitted for analysis in place of the samples from the pregnant women. All of the remaining 92 women were counselled and offered amniocentesis and fetal karyotyping. Eighty‐eight (96 per cent) accepted. Karyotypes or birth outcomes were available on all 92 pregnancies. Six cases of trisomy 18 and one case of Turner syndrome were identified by karyotype. One case of trisomy 18 was identified for every 14 unaffected pregnancies offered amniocentesis. In the present prospective study, an estimated 85 per cent of the cases of trisomy 18 were identified. However, given the small number ofcases (six), the 95 per cent confidence interval for the detection rate is broad (40–95 per cent).
Normal karyotype in cultured chorionic villus cells, but mosaicism in amniotic and fetal cells
Authors: Birkebæk N. H. , Andreasen E. E. , Ramsings M. , Henriques U. V. , Bruun‐Petersen G. 
Published: March 2007

AbstractA case with a normal male karyotype in cultured chorionic villus cells, but 46,XY/45,X/ 46,X,i(Yq) mosaicism in amniotic and fetal tissue is reported. The fetus was a phenotypic male. Pathological examination revealed discrete features, which might indicate a syndrome, and histological examination showed large, bright cells in the tubules of the testes. Possible explanations for discordance between the karyotype of embryonic and extraembryonic tissue are discussed.
Adjustment formulae for maternal serum alpha‐fetoprotein, human chorionic gonadotropin, and unconjugated oestriol to maternal weight and smoking
Authors: Bartels Iris , Hoppe‐Sievert Barbara , Bockel Barbara , Herold Sabine , Caesar Julius 
Published: March 2007

AbstractSerum levels of alpha‐fetoprotein (AFP), human chorionic gonadotropin (hCG), and un‐conjugated oestriol (uE3) were measured in serum samples of 4131 non‐smoking and 1018 smoking women during the second trimester of pregnancy. The levels of all three analytes decreased with increasing body weight. The AFP median was significantly increased in smokers in a dose‐response association; hCG decreased by 21 per cent and uE3 decreased by 3 per cent in smokers in a non‐dose‐related fashion. Regression functions for adjustment of serum levels for weight and smoking should be considered in risk estimation for Down syndrome in order to give a woman's individual risk more precisely.
Human chorionic gonadotropin and unconjugated oestriol measurements in insulin‐dependent diabetic pregnant women being screened for fetal down syndrome
Authors: Palomaki Glenn E. , Knight George J. , Haddow James E. 
Published: March 2007

AbstractThis prospective study investigates the relationship between insulin‐dependent diabetes and maternal serum levels of alpha‐fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG). It also examines the potential impact on screening for Down syndrome. The population‐based cohort included 20 321 pregnant women in Maine who underwent routine serum screening for Down syndrome in the second trimester. The cohort included 52 women with insulin‐dependent diabetes. Maternal serum AFP levels are now routinely adjusted for insulin‐dependent diabetes. These adjustments, therefore, were made routinely in the diabetic women, but no equivalent adjustments were made for uE3 and hCG values. The initial false‐positive rate (using all three markers) among the women with diabetes was not significantly different from that in the non‐diabetic population (7·7 and 5·4 per cent, respectively). Prior to adjustment for insulin‐dependent diabetes, the median AFP level in the 52 women was 0·73 multiples of the median (MOM); the median levels of uE3 and hCG were 0·93 and 0·98 MOM, respectively. When the uE3 and hCG levels were adjusted, the initial false‐positive rate was unchanged. Median serum levels of uE3 were significantly higher in the 33 women whose onset of diabetes was prior to 19 years of age (0·99 MOM) than in the 19 women whose onset of diabetes was at age 19 or older (0·84 MOM). This is the first population‐based study to investigate the relationship between diabetes and serum levels of AFP, uE3, and hCG, and confirms earlier observations from a case—control study that found only slightly lower uE3 and hCG levels.
Maternal serum free β‐human chorionic gonadotrophin levels in twin pregnancies: Implications for screening for down's syndrome
Authors: Wald N. J. , Densem J. W. 
Published: March 2007

AbstractFree β‐human chorionic gonadotrophin values are, on average, 1·90 times greater in twin pregnancies than in singleton pregnancies [95 per cent confidence interval (CI) 1·69–2·13]. This information can be used in screening for Down's syndrome, so that twin pregnancies can be interpreted in addition to singleton pregnancies.
First‐trimester maternal serum alpha‐fetoprotein as a marker for fetal chromosomal disorders
Authors: Van Lith Jan M. M. ,   The Dutch Working Party on Prenatal Diagnosis
Published: March 2007

AbstractWe evaluated first‐trimester maternal serum alpha‐fetoprotein (MS‐AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS‐AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal pregnancies. The median multiple of the normal median (MOM) in 32 Down's syndrome pregnancies was 0·83 with a 95 per cent confidence interval ranging from 0·60 to 1·04. The difference between the distributions of first‐trimester MS‐AFP in normal and Down's syndrome pregnancies was statistically significant (t‐test: t = 2·34, P<0·05). Thirty‐one per cent of the Down's syndrome pregnancies were found below the tenth percentile. We found no difference between normal pregnancies and pregnancies with other chromosomal disorders (eight cases with trisomy 18, MOM = 1·26; seven cases with sex chromosome abnormalities, MOM = 1·07; 22 cases with a chromosomal mosaic pattern in chorionic villi, MOM = 1·08). We conclude that first‐trimester MS‐AFP can discriminate between normal and Down's syndrome pregnancies, but is not an effective marker. First‐trimester MS‐AFP has no value as a marker for other fetal chromosomal disorders.
Identification of abnormal chromosomal complement in formalin‐fixed, paraffin‐embedded placental tissue
Authors: Cowles Tracy A. , Elder Frederick F. B. , Taylor Suzanne 
Published: March 2007

AbstractThe objective of this project was to assess the efficacy of fluorescence in situ hybridization (FISH) with chromosome‐specific DNA probes to identify chromosome number in formalin‐fixed, paraffin‐embedded placental specimens. Using this approach, 75 per cent of the karyotypes in 20 formalin‐fixed placental samples (comprising aneuploids, triploids, and normals) were correctly identified. As this technology improves, the ability to obtain information regarding chromosomal abnormalities in formalin‐fixed, paraffin‐embedded placental tissue should improve as well. This technology can potentially provide important cytogenetic information even when fresh tissue is not available for standard karyotypic analysis.
Prenatal diagnosis of spinal muscular atrophy in Russia
Authors: Shagina I. , Dadali H. L. , Sitnikov V. P. , Pugachev V. V. , Malygina N. A. , Evgrafov O. V. 
Published: March 2007

AbstractNinety‐two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non‐radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.
Twin–twin transfusion syndrome—possible roles for doppler ultrasound and amniocentesis
Authors: Donner Catherine , Noel Jean‐Christophe , Rypens Françoise , van Kerkem Jean , Avni Freddy , Rodesch Frédéric 
Published: March 2007

AbstractA 29‐year‐old woman was referred for suspicion of twin‐twin transfusion syndrome (TTTS). Several ultrasonographic and neonatal criteria of TTTS were encountered in this twin pregnancy. The peculiar observations in this case were, firstly, the demonstration of superficial anastomosis by Doppler ultrasound and, secondly, that one single therapeutic amniocentesis could have been sufficient to partially correct the progression of the syndrome, as after amniocentesis it was no longer possible to demonstrate the vascular communication. This observation suggests that superficial anastomoses could also have a role in the genesis of TTTS. Their effect could be monitored by Doppler ultrasound and could be more easily corrected by therapeutic amniocentesis.
Abnormal levels of maternal serum human chorionic gonadotropin and alpha‐fetoprotein in the second trimester: Relation to fetal weight and preterm delivery
Authors: Morssink L. P. , Kornman L. H. , Beekhuis J. R. , de Wolf B. T. H. M. , Mantingh A. 
Published: March 2007

AbstractThe aim of this prospective descriptive cross‐sectional study was to examine the clinical significance of abnormal maternal serum human chorionic gonadotropin (MShCG) and alpha‐fetoprotein (MSAFP) in the second trimester of pregnancy. The study group comprised 8892 women with a singleton pregnancy, who were screened for a neural tube defect and Down's syndrome. Exclusion criteria were unknown pregnancy outcome, a congenital anomaly, delivery before 25 weeks of amenorrhoea, or known insulin‐dependent diabetes. MSAFP and MShCG were determined between 15 and 20 weeks' amenorrhoea. An abnormal result was defined as (a) MSAFP or MShCG ≥ 2·5 MOM, (b) MSAFP or MShCG ≥ 0·5 MOM, and (c) MSAFP and MShCG ≥ 2·5 MOM. Birth weight percentiles and the duration of amenorrhoea at the time of delivery were employed as outcome parameters. Of the women with an abnormally elevated MSAFP, 9·4 per cent had an extremely small‐for‐gestational age (SGA) infant (<2·3rd percentile; P<0·01, relative risk 4·5), 27·1 per cent had an SGA infant (<tenth percentile; P<0·01, relative risk 2·7), and 14·3 per cent had an appropriate‐for‐gestational age (AGA) infant that was delivered preterm (<259 days; P<0·01, relative risk 2·4). In the cases where the MShCG level was elevated, 4·4 per cent had an extremely SGA infant (P<0·01, relative risk 2·1) and 15·5 per cent had an SGA infant (P<0·01, relative risk 1·5). No significant association was found between an elevated MShCG level and preterm delivery. Low MShCG was significantly associated with SGA infants (P<0·01, relative risk 1·2) but not with extremely SGA or preterm deliveries. In the group whose MSAFP and MShCG levels were both elevated, 23·8 per cent delivered an extremely SGA infant (P<0·01, relative risk 10·9), 38·1 per cent an SGA infant (P<0·01, relative risk 3·7) and 47·6 per cent had a preterm delivery or an SGA infant (P<0·01, relative risk 3·0). Isolated or combined elevation of the MSAFP and MShCG levels in the second trimester of pregnancy is an indication for extra vigilance during further prenatal care. This applies to a lesser extent to a low MShCG level.
Improved parameters for risk estimation in Down's syndrome screening
Authors: Cuckle Howard 
Published: March 2007

AbstractA new method is described for calculating maternal serum marker distribution parameters which will improve risk estimation when screening for Down's syndrome. The approach is to calculate parameters using data from the local screened population and data obtained by meta‐analysis from all published studies. The local data are used to derive the variance and covariance in unaffected pregnancies. The meta‐analysis is used for the mean level in Down's syndrome pregnancies together with the differences in variance and covariance between affected and unaffected pregnancies. Forty‐four published studies were analysed. The mean level for Down's syndrome in multiples of the normal median was 0·73 for alpha‐fetoprotein (AFP) in total of 1140 pregnancies, 0·73 for unconjugated oestriol (uE3) in 613, 2·02 for human chorionic gonadotropin (hCG) in 850, and 2·30 for free β‐hCG in 477. For all four markers, the variance in Down's syndrome was higher than in unaffected pregnancies; for AFP and uE3, the covariances were also higher in Down's syndrome, but for the other markers they were lower. The method was illustrated using data from 6387 pregnancies screened in Leeds.
Unusual presentation of pyogenic meningitis in a diabetic
Authors: McCann J F 
Published: March 2007

AbstractA 53‐year old man with maturity‐onset diabetes mellitus presented with a gram negative septicaemia after a preceding period of 2–3 weeks malaise. There were no localising features to suggest the infective origin on physical examination or investigation and he was treated with intravenous ampicillin, gentamicin and cefuroxime. He died within 48 hours and a post‐mortem demonstrated an unsuspected pyogenic meningitis, shown after culture of cerebrospinal fluid to be due to Klebsiella pneumoniae.
Pneumomediastinum simulating acute pericarditis in diabetic ketoacidosis
Authors: Godden D J 
Published: March 2007

AbstractHamman (1937) was the first to describe pneumomediastinum in diabetic ketoacidosis (Ref 1). A variety of electrocardiographic abnormalities may occur in the presence of pneumomediastinum. A case is described in which history, physical findings and electrocardiographic abnormalities led to an incorrect initial diagnosis of pericarditis.
Domiciliary initiation of insulin therapy by community nurses
Authors: Brown K G E , Madams Margeret 
Published: March 2007

AbstractOver a four‐year period, 45 patients commenced insulin therapy and received education in diabetic self‐care in their own homes, under the supervision of community nurses. No major problems were encountered and none required admission to hospital. Consistently good blood sugar control and weight‐gain back to premorbid or ideal body weight was achieved on average in approximately one and three months respectively. A questionnaire revealed that patients had initial reservations but, after going through the procedure, a majority stated a preference for domiciliary over hospital management. A small number of elderly, isolated or very nervous individuals would have been more suited to in‐patient care.
Severe osteoporosis with spontaneous fracture in a young diabetic woman
Authors: Evans D J , Pritchard‐Jones Kathryn , Trotman‐Dickenson Beatrice 
Published: March 2007

AbstractA 35 year‐old woman newly presenting with diabetes was markedly underweight and had severe generalised osteoporosis and extensive tissue damage with retinopathy, peripheral neuropathy and Charcot neuroarthropathy. She subsequently developed a fracture of the tibial head. Severe osteoporosis with spontaneous fracture is unusual in young diabetics and may be due partly to preceding insulin deficiency.
Diabetes in the elderly ‐ an epidemiological perspective
Authors: Petri M P , Gatling Wendy , Petri Linda , Hill R D 
Published: March 2007

AbstractA survey was performed to identify all known diabetics in a defined population whose age distribution was similar to that of the UK. The study population consisted of all 90,660 patients registered with 40 general practitioners. Of these, 15,411 (17%) were elderly, ie aged 65 years or more. Nine hundred and seventeen diabetics were identified from the total population, resulting in a prevalence for all ages of 1.01%. More than half (479) of all the diabetics were aged 65 years or over. Thus the prevalence for diabetes in the elderly was 3.1%. Age‐specific rates for diabetes in the age group 65–74 years were 33.2/1000 for males and 24.8/1000 for females. In those over 75 years the rates increased to 45.7/1000 for males and 29.0/1000 for females.A detailed study of the 50 elderly diabetics from one of the group practices revealed a high prevalence of both cardiovascular disease (96%) and eye disease (40%). In the planning of diabetic services, specific provision must be made for the elderly, who form a substantial part of the diabetic community, associated with a high morbidity.
Proteinuria and retinopathy in patients with diabetes mellitus: A survey of an entire clinic
Authors: St J O'Reilly D , Grey R H B , Morris A , Southgate H J , Frcp N Malcolm 
Published: March 2007

AbstractAll patients attending a Diabetic Clinic, were invited to attend a combined Diabetic/Ophthalmic Clinic. In all, 658 patients out of a total of 684 were studied. Fifty‐six out of 650 patients who brought a urine sample, had proteinuria‐positive Albustix. The prevalence of proteinuria in patients with insulin‐dependent diabetes (IDD) (16 out of 204), was not significantly different from that of those with non‐insulin dependent diabetes (NIDD) (40 out of 446). In IDD, the prevalence of proteinuria in patients with retinopathy (10 out of 94), was not significantly different from that of patients without retinopathy (6 out of 108). This was also true for patients with NIDD (11 out of 104), patients with retinopathy and 28 out of 338 patients without retinopathy. In this study, we were unable to demonstrate any clear relationship between “Albustix‐positive” proteinuria and diabetic retinopathy.
The use of art therapy for diabetics
Authors: Knight Sheila 
Published: March 2007

AbstractDiabetes may bring with it many emotional problems about which many patients may not be able to easily express their feelings. This has been recognised by physicians and some experiments in the use of psychotherapy have been tried.Art therapy is used in the treatment of mental handicap and mental illness and, as a diabetic, I have successfully used art to help me to cope with my condition. Given appropriate facilities such as a diabetes day centre, art therapy could be offered to patients as another means of coping with the problems of their diabetes. The effectiveness of art therapy needs to be properly evaluated.
Perceptions of hypoglycaemia in childhood diabetes mellitus: A questionnaire study
Authors: MacFarlane P I , Smith C S 
Published: March 2007

AbstractOne hundred diabetic children and their parents completed a questionnaire about their hypoglycaemic episodes. The median frequency of episode was once every two months, but 23% of children were experiencing one or more each week. Episode frequency did not correlate with age, insulin dose or glycosylated haemoglobin. In most instances hypoglycaemia occurred at no regular time but 11% were usually nocturnal. The commonest identified daytime cause was exercise. Only half the children could always confidently recognize their hypoglycaemic episodes. Symptoms sometimes varied markedly between each episode. Children of 6.5 years and younger were frequently thought to feign symptoms of hypoglycaemia.Parents recognized hypoglycaemia in their child most commonly by first noticing facial pallor, changes in their children's behaviour (eg irritability, aggression, disobedience, confusion) and sweating late in the episode. Children themselves most commonly reported feeling tremulous or experiencing sudden involuntary muscle jerks and sweating as the first recognizable symptoms. A wide range of other signs and symptoms were described. Children reported bizarre feelings and experiences during hypoglycaemia. Sixteen percent of parents had, at some stage, used glucagon to treat severe hypoglycaemia in their child.This study provides important basic information about how parents, children and health professionals can recognize hypoglycaemia and has modified the advice which we give to diabetic children and their parents.
Compliance in diabetes mellitus: A self‐assessment study
Authors: Davis T M E , Strong J A , Bloom S R 
Published: March 2007

AbstractThe self‐assessed compliance of 100 randomly‐selected diabetics (42 males, 58 females: age range 14–83 years) attending the Hammersmith Hospital outpatient department was examined using a short, anonymous, multiple‐choice questionnaire. Over three‐quarters of the sample admitted to a significant degree of dietary non‐compliance, especially those under the age of 60 years (p<0.05). Although 96% of those on insulin or oral hypoglycaemics stated that they took medication exactly as prescribed, over half the sample admitted to being non‐compliant when performing home blood glucose monitoring. Almost a quarter of the sample said they had, at some time, fabricated results of blood or urine glucose testing, and eight subjects indicated that they had deliberately omitted to bring record books to clinic in the past.The vast majority (94%) of the diabetics said they would report diabetes‐related problems (such as hypoglycaemia) even if they had to be asked directly, but a small percentage would not report such problems at all. Almost all (96%) patients considered at least some of their fellow diabetics to be dishonest during an outpatient consultation, while only 25% thought that the clinic doctors believed everything their diabetic patients reported. These results suggest that, although compliance is poor, diabetic patients will usually admit to it in confidence. Thus, direct questioning remains a key tool in the management of diabetics of all ages.
Support for families with diabetic children: Parents' views
Authors: Challen A H , Davies A G , Williams R J W , Baum J D 
Published: March 2007

AbstractParents of 86 children (aged 10–17 years) with diabetes, were asked about the support they had received since their child's diagnosis. The major source of support cited was from hospital paediatricians and diabetes health visitors. Sixty‐six per cent of parents felt they had received sufficient support.In comparison, the 34% of parents who were unsatisfied with support services, had a less cohesive family environment (p < 0.05); their children had diabetes of longer duration (p=0.01) and were younger at diagnosis (p < 0.05).The unsatisfied group were less likely to have had contact with a diabetes health visitor (P < 0.05). There were no differences between the two groups in socioeconomic status or their children's age, sex or psychological function. Parents' suggestions for improving services included easy access to professionals, and consistency of advice.The results of this study have potential implications for the delivery of medical care for children with diabetes.
Captopril therapy and pseudoketonuria: A clinical assessment
Authors: Williams E R , Young Lilian , Mahon Barbara 
Published: March 2007

AbstractStudies have suggested that the angiotensin converting enzyme inhibitor captopril may cause false positive urine tests for acetone. The phenomenon of misinterpretation of urinary ketone‐test strip results in patients taking captopril was investigated in 25 diabetic and 25 non‐diabetic patients over a period of 28 days. Four of the 50 patients had a weak positive test with Ketostix and one of these also showed a weak positive Ketur test. Although the incidence of false positive results was relatively low, it should be borne in mind when advising diabetics on self testing for ketones.