bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal analysis of the insulin receptor gene in a family with leprechaunism
Authors: Longo Nicola , Langley Sharon D. , Still Maria J. , Elsas Louis J. 
Published: March 2007

AbstractLeprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prenatal diagnosis of leprechaunism in one consanguineous family, Atl‐1, in which two homozygous‐affected siblings died with leprechaunism. The mutation in their insulin receptor impaired insulin binding and altered receptor signalling. Prenatal diagnosis could not be accomplished using insulin binding to cultured amniocytes, but was possible using mutational analysis of the insulin receptor gene in DNA from amniotic cells.
Trisomy 16 fetus surviving into the second trimester
Authors: Cusick William , Bork Michael , Fabri Betsy , Benn Peter , Rodis John F. , Buttino Louis 
Published: March 2007

AbstractA 27‐year‐old gravida 4, para 3 was found to have anhydramnios at 14 weeks' gestation following a size/date discrepancy noted at her routine prenatal visit. A detailed ultrasound revealed multiple fetal anomalies including congenital heart defect, chest hypoplasia, and bilateral dysplastic kidneys. Karyotype revealed trisomy 16 in 15/15 cells from a tissue specimen obtained from the fetal cord insertion site following elective pregnancy termination.
Prenatal identification of i(YP) by molecular cytogenetic analysis
Authors: Wang Boris B. T. , Yu Loh‐Chung , Peng Willow , Falk Rena E. , Williams John 
Published: March 2007

AbstractAn i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y‐specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studies further confirmed the diagnosis. Upon pregnancy termination, external examination of the fetus revealed a generally well‐developed male fetus with slight facial dysmorphism and prominent rocker‐bottom feet. The molecular cytogenetic data in this case proved very useful in genetic counselling and served as a good example illustrating the important role of molecular techniques for accurate identification of marker chromosomes.
Elevated alpha‐fetoprotein and human chorionic gonadotropin as a marker for placental trisomy 16 in the second trimester?
Authors: Zimmermann Roland , Lauper Urs , Streicher Anja , Huch Renate , Hugh Albert 
Published: March 2007

AbstractIn a series of 2961 consecutive cases with second‐trimester biochemical triple screening for Down's syndrome and neural tube defect (NTD), ten (0.3 per cent) showed an apparent increased risk for both conditions. Three cases had chromosomal abnormalities, namely trisomy 16 confined to the placenta. Since placental trisomy 16 as well as cases with increased alpha‐fetoprotein (AFP) and human chorionic gonadotropin (hCG) are associated with (intrauterine growth retardation (IUGR), oligohydramnios, and fetal demise, at least some cases with this atypical biochemical profile could be explained by this chromosomal abnormality. From our results we recommend that in cases with increased risk for both Down's syndrome and NTD, fetal karyotyping should preferably be done on a placental biopsy, especially when ultrasound in the absence of anomalies demonstrates early IUGR.
Repeat maternal serum testing for down's syndrome screening using multiple markers with special reference to free α and free β‐hCG
Authors: Hackshaw A. K. , Densem J. , Wald N. J. 
Published: March 2007

AbstractTo determine the effect of routine repeat testing in serum screening for Down's syndrome, we compared estimates of the detection and false‐positive rates. Five serum markers were measured‐alpha‐fetoprotein (AFP), unconjugated oestriol (uE3), human chorionic gonadotrophin (hCG), and its two subunits, free α and free β‐hCG. First and repeat test marker levels were available from 142 women whose samples had been routinely collected and stored in an antenatal serum bank. Different repeat testing policies were compared for various combinations of the markers. If all women had repeat tests using the four markers AFP, uE3, and free α and free β‐hCG, the detection rate for a 5 per cent false‐positive rate was 69 per cent compared with 65 per cent if no women were repeated. Policies of repeating selected women gave similar results. The small gain in screening performance with repeat testing performed routinely is not worthwhile. If a woman does happen to have a repeat test, her risk estimate should, however, be based on both results, not just the second.
Enhanced twin pregnancy detection within an open neural tube defect and down syndrome screening protocol using free‐beta hCG and AFP
Authors: Barnabei Vanessa M. , Krantz David A. , Macri James N. , Larsen John W. 
Published: March 2007

AbstractWe have applied our multimarker approach of maternal serum alpha‐fetoprotein (AFP) and free‐beta human chorionic gonadotropin (hCG) for Down syndrome screening to multiple gestations to assess its efficacy for improved detection of twin and triplet pregnancies. This study matched 225 cases of twin pregnancy and 39 cases of triplet pregnancy each with ten singleton pregnancies based on gestational week, race, time to receive sample, time of year of sample, and geographical area. The ratios of the MOM for each group at the tenth, 50th, and 90th percentiles were compared by the Wilcoxon test. Risks for twins were calculated using Bayes' rule, the age‐related incidence of twins, and the levels of AFP and free‐beta hCG. The tenth, 50th, and 90th percentiles of free‐beta hCG MOMs in twin and triplet cases were 0.85, 1.99, and 4.51, and 1.38, 2.78, and 4.07, respectively. For AFP, the MOMs at these percentiles were 1.26, 1.91, and 2.99, and 2.02, 2.68, and 5.30, respectively. The twin and triplet distributions for each marker were statistically significantly different from the singleton distributions (P<0.0001) and from each other (P=0.0012). At a twin risk cut‐off of 1 in 50, 77.4 per cent of all twin gestations can be detected in a second‐trimester AFP and free‐beta hCG screening protocol with 5.1 per cent of singleton pregnancies falsely identified as at risk for twins. Our dual marker protocol for mid‐trimester pregnancy screening combining AFP and free‐beta hCG can identify over 77 per cent of twin pregnancies in women less than 35 years of age. This benefit may contribute to an improved outcome of pregnancy by early detection of multiple gestation.
Confined placental mosaicism in term placentae: Analysis of 125 cases
Authors: Artan S. , Başaran N. , Hassa H. , Özalp S. , Şener T. , Şayli B. S. , Cengiz C. , Özdemi̊ M. , Durak T. , Dölen I. , Özgünen T. , Tuna M. 
Published: March 2007

AbstractIn order to determine the incidence of confined placental mosaicism (CPM) in term placentae and to show the presence of specific sites and the effect on fetal development, 125 placentae from uneventful pregnancies were analysed by cytogenetic methods. The incidence was at least 4.8 per cent and there were no specific sites on the placenta. Although the number of cases is still too small, we found CPM to be associated with intrauterine growth retardation in six cases.
First‐trimester diagnosis of Meckel–Gruber syndrome by transabdominal sonography in a low‐risk case
Authors: Braithwaite Jeffrey M. , Economides Demetrios L. 
Published: March 2007

AbstractMeckel–Gruber syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and earlier diagnosis has been mainly confined to high recurrence risk pregnancies. We describe the earliest non‐invasive diagnosis of this condition at 12+2 weeks' gestation in a patient with no previous history using transabdominal ultrasound. Pregnancy termination was declined. Subsequent development of anhydramnios in the mid‐trimester resulted in poor fetal visualization. We propose that first‐trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy.
Recurrent congenital toxoplasmosis in a woman with lupus erythematosus
Authors: D'Ercole Claude , Boubli Léon , Franck Jacqueline , Casta Michel , Harle Jean‐Robert , Chagnon Catherine , Cravello Ludovic , Leclaire Michèle , Blanc Bernard 
Published: March 2007

AbstractWe describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in utero with a combination of sulfadoxine and pyrimethamine, administered to the mother, and is now well. The increasing number of immunocompromised pregnant patients with immunity to Toxoplasma gondii may lead to a higher risk of reactivation of maternal toxoplasmosis and congenital infection.
Detection of low‐grade mosaicism in fetal cells isolated from maternal blood
Authors: Bischoff Farideh Z. , Lewis Dorothy E. , Simpson Joe Leigh , Nguyen Dianne D. , Scott Jeffrey , Schober Wendy , Murrell Sarah , Elias Sherman 
Published: March 2007

AbstractRecovering and analysing fetal erythrocytes from maternal blood is being pursued for non‐invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first‐trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.
The ultrasonic detection of an isolated craniosynostosis
Authors: Van Der Ham L. I. , Cohen‐Overbeek T. E. , Paz Geuze H. D. Y , Vermeij‐Keers Chr. 
Published: March 2007

AbstractThe prenatal detection of scaphocephaly, an isolated form of craniosynostosis, is presented. The diagnosis was made at 34 weeks of gestation in a woman with polyhydramnios. The ultrasound appearance and postnatal follow‐up are presented.
Towards informed decisions about prenatal testing: A review
Authors: Marteau Theresa M. 
Published: March 2007

AbstractThere are now several well‐documented psychological problems associated with prenatal testing programmes. These include poor understanding of tests undergone or declined, anxiety following false positive results, and false reassurance in those receiving negative test results. There is, as yet, little evidence concerning how to provide services to circumvent these. The focus of this review is upon just one of these problems: how best to inform women about prenatal testing and their reproductive options following the diagnosis of a fetal abnormality.Possible methods of improving informed decision‐making either about whether to undergo testing or whether to terminate an affected pregnancy are described drawing upon research from antenatal and other health care areas. Future challenges for clinical practice and research in this area concern the range of conditions and predispositions for which prenatal testing with the option of termination should be offered.
First trimester serum screening for down's syndrome
Authors: Wald N. J. , Kennard A. , Hackshaw A. K. 
Published: March 2007

AbstractScreening for Down's Syndrome has been shown to be effective at 10 weeks of pregnancy. A multicentre study (the First trimester serum screening study) has shown that there are two biochemical markers of choice at this time in pregnancy, namely pregnancy associated placental protein A (PAPP‐A) and the free β‐sub‐unit of human chorionic gonadotrophin (free β‐hCG). When used together with maternal age these two biochemical markers have an estimated detection rate of 62% and a 5% false‐positive rate. The results are consistent with those obtained from a systematic review of the world literature. Other markers are less predictive of Down's syndrome though there is still some uncertainty over the value of dimeric inhibin‐A at 10 weeks of pregnancy. Nuchal translucency measurement, from an ultrasound examination performed at about 10 weeks of pregnancy, is associated with Down's syndrome and is emerging as an important potential screening marker. At present there is uncertainty over its quantitative performance and performance when combined with biochemical markers. The resolution of these issues is currently the subject of active research. Ten week screening for Down's syndrome is an advance that is now technically possible though there is still insufficient information to justify its use in routine screening practice.
Ultrasound screening for fetal abnormalities
Authors: Chitty Lyn S. 
Published: March 2007

AbstractUltrasound screening for fetal abnormalities is increasingly becoming part of routine antenatal care in Europe and the UK. However, there has been very little formal evaluation of this practice. In this article reports of routine ultrasound screening are reviewed and the advantages and disadvantages discussed. The majority of routine anomaly scanning is done in the second trimester but there may be a case for screening at other times in pregnancy and alternative anomaly screening policies are discussed.
Early amniocentesis: A clinical review
Authors: Wilson R. Douglas 
Published: March 2007

AbstractEarly amniocentesis at less than 14 weeks gestation is becoming more common in prenatal diagnosis populations. Randomized studies are minimal and have not had the power to determine the accuracy and safety of the procedure compared to chorionic villus sampling or mid‐trimester amniocentesis. Procedures at 11+0‐12+6 weeks should be considered experimental. This clinical review considers the ethics, embryology, and clinical experience (cytogenetics, AFP, AChE, procedure and cytogenetic failures, spontaneous and therapeutic pregnancy losses, congenital anomalies) of early amniocentesis.
The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia
Authors: Frohn‐Mulder I. M. , Stewart P. A. , Witsenburg M. , Den Hollander N. S. , Wladimiroff J. W. , Hess J. 
Published: March 2007

AbstractFetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of flecainide altered obstetric management and fetal outcome. A retrospective analysis took place of 51 singleton pregnancies which were referred to the division of prenatal diagnosis because of fetal tachycardia between 1982 and 1993. SVT was documented in 50 out of 51 fetuses, one of which displayed a combination of extensive rhabdomyomas and severe hydrops and died shortly after referral. In the other fetus ventricular tachycardia was diagnosed. Of the remaining 49 fetuses, 14 did not receive any prenatal treatment, but nine needed postnatal treatment. Transplacental treatment of SVT took place in 35 fetuses, of which 22 presented without hydrops and 13 with hydrops. These subsets differed significantly with respect to restoration of normal sinus rhythm (73% vs. 30%; p<0.001) and mortality (0% vs. 46%; p<0.001). Digoxin was effective in restoring sinus rhythm in 55 per cent of the non‐hydropic fetuses but in only eight per cent of the hydropic fetuses. Flecainide was effective in restoring sinus rhythm in all non‐hydropic fetuses where digoxin treatment failed, and in 43 per cent of hydropic fetuses. Administration of flecainide resulted in a significantly reduced mortality (p<0.001) compared with digoxin treatment. No adverse effects were seen. Postnatal anti‐arrhythmic treatment was necessary in 23 infants. Treatment could be withdrawn within one year in all cases but one.
An assessment of field methods measuring blood and urine glucose levels
Authors: O'Connell M , Cregan D , Keenan P , Callinan M , Drury R , Drury M Ivo 
Published: March 2007

AbstractAll the home monitoring products for blood and urine glucose testing available during the period of study were tested against a laboratory reference method. BM 20–800 was the most accurate of the blood reagent strips. Visidex II was more accurate than Visidex, particularly in the hypoglycaemic range. All the reflectance meters were more accurate than the blood reagent strip. Diabur 5000 was the most accurate field method of assessing glycosuria. However, in assessing metabolic control, quantitation of glycosuria, whether by field or reference method, was a poor substitute for direct blood glucose measurement.
Practical knowledge of diabetes mellitus. A survey of medical and nursing staff
Authors: Knight P V , Cummins A G , Kesson C M 
Published: March 2007

AbstractA recent study of our diabetic outpatients demonstrated major deficiencies in patients' knowledge of their disease. As a result of this work, a survey was carried out among medical and nursing staff at this hospital. A 36‐item multiple‐choice questionnaire was completed, covering aspects of diabetes such as: basic knowledge, insulin, diet, and hypo‐ and hyperglycemia. Deficiencies in knowledge were shown in medical and nursing staff, although there were minimal differences between doctors and nurses and between each subgroup of nurse. Aspects poorly understood included: insulin manipulation during illness, exercise and ketonuria; and basic fundamentals of diet and carbohydrate exchange. The deficiencies shown by staff are similar to those shown by patients.
Insulin injection technique and diabetic control
Authors: Burden A C , Jones G R , Blandford R L 
Published: March 2007

AbstractA major cause of unreliable and variable insulin absorption may be ‘scar’ formation at the site of repeated injection, revealed as lipohypertrophy. 60 patients with poor diabetic control (HbA1, ⪖11%), increased insulin requirements (⪖1u/kg/24 hrs) and poor injection sites were initially studied. Intensive reeducation improved 34 patients within 2 months; 26 patients continued to be poorly controlled. These patients were further studied following re‐instruction in injection technique and prescription of ‘disposable’ injection equipment.Analysis of BM 20–800 readings, HbA1, and insulin dosage was performed at change‐over, 2 months, 6 months and 12 months. Mean daily dosage fell from 83u/24 hrs initially to 51u at 2 months, 53u at 6 months and 47u at 12 months. At the same time intervals, mean HbA1 was 12.0%, 10.4%, 10.7%, 10.1% (P<0.05), frequency of symptomatic hypoglycemia per week was 2.0, 0.5, 0.4, 0.6 (P<0.01) and BM 20‐800 stick readings ⪖22 mmol/l were 5.0, 1.0, 0.0, 0.5 (P< 0.01). Specific instruction on injection technique with disposable equipment produced improved control with less frequent hypoglycemic episodes and reduced insulin requirements. Strict attention to injection sites improved diabetic control.
Painful symptoms due to a spinal tumour in a man with insulin‐dependent diabetes mellitus and spinal muscular ‐atrophy
Authors: Samanta A , Blandford R L , Burden A C 
Published: March 2007

AbstractPain is a well recognised feature of diabetic neuropathy (Ref1). However, not all neuropathic or radiculopathic pains in the diabetic subject occur invariably as a consequence of diabetes and it is important that other correctable causes be ruled out. Our recent experience in this respect leads us to report the following case.
Diabetic amyotrophy: Case reports and review
Authors: Brooks A P 
Published: March 2007

AbstractDiabetic amyotrophy (literally no muscle nourishment in diabetes) is a well‐known, if somewhat uncommon, complication of diabetes mellitus. The main symptoms are muscle weakness and pain, usually in the hips and thighs, leading to difficulty in standing and walking. It usually occurs in patients over 60 years of age and hence its morbidity is increased. However, diabetic amyotrophy (DA) is one complication which seems always to respond to better glycaemic control and if this can be achieved the prognosis is good. This article reviews the clinical features, pathology and management of the condition, comparing the author's own series with others in the literature in the context of modern views.
Rapid improvement in pain of diabetic neuropathy. Using an open‐loop intravenous insulin infusion system
Authors: Samanta A , Burden A C 
Published: March 2007

AbstractUsing a simple open‐loop intravenous insulin infusion regimen, 24 hour euglycaemia (hourly blood sugars <7 mmol/I) was achieved within 1–3 days in 17 diabetic patients with severe painful neuropathy. A marked improvement in symptoms was observed between 2–5 days in 14 out of 17 patients, the reduction in pain ranging from 50–90 on an arbitrary pain analogue scale of 100. Furthermore, this improvement was maintained for up to six months, using multiple daily injections of subcutaneous insulin with home monitoring of blood glucose. Tight control of diabetes produced a rapid and sustained improvement in symptoms in the majority of patients with severe painful neuropathy.
Do frequent clinic visits improve diabetic control?
Authors: Finer N 
Published: March 2007

AbstractIn order to assess the effect of more frequent clinic attendance on diabetic control, 60 non‐insulin‐dependent diabetics were allocated to two treatment groups ‐ one seen monthly for six visits and the other seen at the beginning and end of six months. There was a slight, insignificant fall in fasting blood sugar in the more frequently seen group (8.6 to 8.3 mmol/I), compared to a rise (8.8 to 9.6 mmol/I) in the group seen six‐monthly. HbA1 deteriorated in both groups. No “placebo” effect from more frequent visits was observed.
Single and double voided urine testing: A comparison with blood glucose monitoring in insulin‐dependent diabetics
Authors: Gerlis L S , Cockram C S , Brown P M , Sonksen P H 
Published: March 2007

AbstractIn order to assess the degree of correlation between glycosuria in both single and double voided urine specimens and simultaneous capillary blood glucose measurements, an outpatient study on nine adult insulin‐dependent diabetics collected 778 paired blood and urine measurements. Although low blood glucose readings were usually associated with negative glycosuria, there was considerable variation both within the group and individual patients.Additional data was collected during the routine care of 83 diabetic children at 2 educational holidays. Paired urine and blood measurements were obtained on 1,236 occasions, on 362 of which double voiding was attempted. These data also showed considerable scatter and poor overall correlation between single voided urine and capillary blood glucose, and no improvement with double voiding.In the adults, the correlation was not affected by analysis of morning versus evening results, by once or twice‐daily insulin regimens, or by the method used for urine testing.The conclusions are:

Urine glucose measurements are poor predictors of prevailing blood glucose levels.
Double voiding of urine for urinalysis appears to have no additional advantages over single voiding.
Practical aspects of finger pricking
Authors: Jones Heather , Barman A Deb , Tattersall J , Child D F 
Published: March 2007

AbstractEighty patients completed a questionnaire dealing with the practical aspects of finger‐pricking. Pain was significantly less of a problem amongst those who used Autolets (p < 0.005). The majority of patients re‐used their Monolet lancets without any problems. Only 45% altered their insulin dose independently and 42% were performing insufficient tests. These results emphasize the need for continuing education in this group of patients.