bluuebunny/crossref_metadata_2025 huggingface dataset:
Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes
Authors: Law H.‐Y. , Stanier P. , Williamson R. , Modell B. , Ward R. H. T. , Petrou M. , Old J. , Farrall M.
Published: March 2007

There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2‐q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We describe here two families seeking prenatal diagnosis for CF which present unusual counselling problems. The first is an extended family in which there is no living affected member with CF; the second, a consanguinous marriage at risk both for cystic fibrosis and β‐thalassaemia. In both cases first trimester chorionic villus sampling and DNA haplotype analysis predicted that the fetus is a carrier for CF, and in the doubly affected family a carrier for β‐thalassaemia as well. Both pregnancies resulted in live births and subsequent immunoreactive trypsin estimations were both in the normal range.
Aryl sulphatase isoenzymes of chorionic villi: Implications for prenatal diagnosis
Authors: Giles L. , Cooper A. , Fowler B. , Sardharwalla I. B. , Donnai P.
Published: March 2007

Prenatal diagnosis of metachromatic leucodystrophy (MLD) is based on demonstrating a deficiency of aryl sulphatase A (ASA) in the fetus. To evaluate the place of chorionic villus sampling for prenatal diagnosis of this condition, the properties of ASA were compared in chorionic villi and cultured skin fibroblasts. Considerable differences with respect to pH optimum, Km values and linearity with incubation time were found. These differences can be explained by the presence of aryl sulphatase C (ASC), a major component in chorionic villi and placenta. This isoenzyme was shown to have activity towards p‐nitrocatechol sulphate (NCS) thereby interfering in the colorimetric assay most often used to detect MLD (Baum et al., 1959).
Use of 4‐methylumbelliferyl‐6‐sulpho‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside for prenatal diagnosis of tay‐sachs disease using chorionic villi
Authors: Grebner Eugene E. , Wenger David A.
Published: March 2007

Prenatal diagnosis of Tay‐Sachs disease was performed using the sulphated substrate 4‐ methylumbelliferyl‐6‐sulpho‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside to detect hexosaminidase A in chorionic villi. The presence or absence of hexosaminidase A in villi was detected by both a quantitative enzyme assay, and by a rapid, novel procedure which permitted visual discrimination between normal and affected villi.
Fetal karyotype following ascertainment of fetal anomalies by ultrasound
Authors: Palmer Catherine G. , Miles Judith H. , Howard‐Peebles Patricia N. , Magenis R. Ellen , Patil Shivanand , Friedman Jan M.
Published: March 2007

Data pooled from contributors to a Registry for Cytogenetic Abnormalities and PKU (ReCAP) shows an unbalanced chromosome abnormality rate of 27 per cent (29 fetuses) for 107 fetuses with ultrasonically diagnosed fetal anomalies. Of the abnormal, 12 were trisomic, 6 were monosomy X and 6 were structural abnormalities, 4 were mosaics and one triploid.
Ultrastructure of first trimester chorionic villi with regard to the prenatal diagnosis of genodermatoses
Authors: Hausser Ingrid , Anton‐Lamprecht Ingrun
Published: March 2007

Hopes are held out for chorion villus sampling, a technique which is gaining more and more importance for the first trimester prenatal diagnosis of chromosomal aberrations and metabolic abnormalities. A variety of inherited skin diseases can be diagnosed postnatally and prenatally (in the second trimester) by ultrastructural diagnostic markers. For evaluation of prenatal diagnosis in the first trimester, we investigated chorionic villi derived from the trophoblast layer of the early pregnancy by light microscopy and conventional electron microscopy. The ultrastructure of the cellular layers covering the villi, i.e., the inner cytotrophoblast and the outer syncytiotrophoblast, as well as that of the connective tissue of the inner extraembryonic mesoderm, are thoroughly described in relation to the ultra‐structural changes in certain genodermatoses including epidermolyses and keratinization disorders. We found that chorionic villi have only a few of the characteristics differentiated in skin, and none of the structures which are relevant to the diagnosis of genodermatoses. In our view, the ultrastructural approach is not suitable for first trimester prenatal diagnosis of genodermatoses in chorionic villi.
Congenital cystic hygroma of the neck diagnosed prenatally: Outcome with normal and abnormal karyotype
Authors: Abramowicz Jacques S. , Warsof Steven L. , Doyle Debra Lochner , Smith Deborah , Levy Donald L.
Published: March 2007

Twenty‐two cases of cystic hygromas were diagnosed prenatally at Eastern Virginia Medical School and followed through the neonatal period. Our series was combined with 131 cases which have been described in the literature. Karyotypes were obtained in 110 fetuses and 80 (72·7 per cent) were abnormal. Fifty‐one were not terminated: 30 with abnormal and 21 with normal karyotypes. There were no neonatal survivors in the group with abnormal karyotypes. There were five survivors in the 21 with normal karyotypes but only 2/21 without severe medical complications. Combining our series with those previously reported in the literature would suggest only a 2–3 per cent rate of intact survivors when fetal cystic hygromas are diagnosed in utero. This information should be helpful when counselling patients whose pregnancies carry this diagnosis.
Human chorionic gonadotropin levels in pregnancies with aneuploid fetuses
Authors: Bogart Mark H. , Golbus Mitchell S. , Sorg Nancy D. , Jones O. W.
Published: March 2007

Maternal serum human chorionic gonadotropin (hCG) and the free alpha‐hCG subunit were evaluated in 249 women from 9 to 11 weeks gestation who subsequently underwent chorionic villus sampling for determination of fetal karyotype and in 20 women of 18 or more weeks gestation who were ascertained to have an aneuploid fetus by genetic amniocentesis. Seven of the first‐trimester pregnancies were determined to be aneuploid and six had hCG levels in the normal range (one triploid pregnancy had elevated hCG levels) whereas 12 of the 20 secondtrimester cases had abnormal hCG levels and an additional three had elevated levels of alpha‐hCG. This study confirms the previous report of abnormal maternal serum hCG levels in women with an aneuploid fetus at ≥ 18 weeks gestation and demonstrates that hCG evaluation is not useful at 9–11 weeks gestation for selecting pregnancies at risk for fetal aneuploidy.
Non‐ketotic hyperglycinaemia: Glycine/serine ratio in amniotic fluid–an unreliable method for prenatal diagnosis
Authors: Garcia‐Muñoz M. J. , Belloque J. , Merinero B. , Pérez‐Cerdá C. , Sanz P. , Ugarte M.
Published: March 2007

We describe a prenatal diagnosis of a fetus at risk for non‐ketotic hyperglycinaemia based on the glycine/serine ratio in amniotic fluid at 16 weeks of gestation. Although the glycine level and the glycine/serine ratio in amniotic fluid were within the normal range, the fetus was affected and therefore a false‐negative prediction was made. The reliability of this method is questioned.
Prenatal diagnosis of a partial 8p
Authors: Pezzolo Trisomy A. , Bicocchi M. P. , Zampatti C. , Cuoco C. , Gimelli G.
Published: March 2007

The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio‐ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.
First‐trimester maternal serum alphafetoprotein and chorionic gonadotropin in aneuploid pregnancies
Authors: Johnson Anthony , Cowchock F. Susan , Darby Marilyn , Wapner Ronald , Jackson Laird G.
Published: March 2007

First‐trimester maternal serum alpha‐fetoprotein (AFP) and human chorionic gonadotropin (HCG) levels were measured in samples from 29 women with cytogenetically abnormal pregnancies and 145 women with cytogenetically normal pregnancies matched for gestational age, race, and sample storage time. All patients had a risk of fetal aneuploidy greater than or equal to that of a mother 35 years of age. AFP was significantly lower in samples from pregnancies affected with trisomy 21 (0.67 MoM;p <0.05), while HCG values were no different from those of matched controls. Trisomies 13 and 18 could not be distinguished from matched controls by AFP. However, levels of HCG were significantly lower in such pregnancy samples, with median values of 0.65 MoM in trisomy 13 and 0.32 MoM in trisomy 18 (p<0.05). Variations in AFP and HCG levels suggest that expressed differences between autosomal aneuploidies include differences in fetal and placenta! protein production in the first trimester.
Pallister‐Killian syndrome diagnosed by chorionic villus sampling
Authors: Sharland Michael , Hill Lucille , Patel Rashmi , Patton Michael
Published: March 2007

The first prenatal diagnosis of Pallister‐Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.
Future use and development of prenatal diagnosis. Consumers' attitudes
Authors: Sjögren Berit
Published: March 2007

The rapid progress of prenatal diagnosis and genetic tests makes it important to investigate attitudes towards this development. A total of 40 women and 20 men with personal experience of prenatal diagnosis for chromosome aberrations were interviewed about their moral opinion of the development. The majority (88 per cent) considered it certain or probable that all new methods developed will also be used in the future. The majority (62 per cent) were hesitant about testing for common disorders, e.g., diabetes mellitus and rheumatoid arthritis, but regarded it justified in some situations. One‐third of the individuals (31 per cent) wanted some kind of restrictions for the use of the tests, but only 13 per cent recommended legislation for this purpose. The majority (84 per cent) believed that ethical principles are influenced by scientific progress. In most aspects, the women and their partners had similar attitudes. However, 82 per cent of the women but only 20 per cent of the men considered that the couple itself should decide about prenatal diagnosis. The results demonstrated a considerable respect regarding the difficult choices associated with the development of prenatal diagnosis, also among those who have decided in favour of the test. The study indicated a greater need for autonomy among women than among men.
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

Two 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

A 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

Serum 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

This 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

Free 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

We 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

The 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

Ninety‐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

A 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

The 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

A 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

A 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

Hamman (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

Over 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

A 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

A 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

All 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

Diabetes 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

One 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

The 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

Parents 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

Studies 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.
Facile synthesis of dumbbell‐shaped dendritic‐linear‐dendritic triblock copolymer via reversible addition‐fragmentation chain transfer polymerization
Authors: Ge Zhishen , Chen Daoyong , Zhang Jingyan , Rao Jingyi , Yin Jun , Wang Di , Wan Xuejuan , Shi Wenfang , Liu Shiyong
Published: March 2007

We report the first instance of facile synthesis of dumbbell‐shaped dendritic‐linear‐dendritic triblock copolymer, [G‐3]‐PNIPAM‐[G‐3], consisting of third generation poly(benzyl ether) monodendrons ([G‐3]) and linear poly(N‐isopropylacrylamide) (PNIPAM), via reversible addition‐fragmentation chain transfer (RAFT) polymerization. The key step was the preparation of novel [G‐3]‐based RAFT agent, [G‐3]‐CH2SCSSCH2‐[G‐3] (1), from third‐generation dendritic poly(benzyl ether) bromide, [G‐3]‐CH2Br. Due to the bulky nature of [G‐3]‐CH2Br, its transformation into trithiocarbonate 1 cannot go to completion, a mixture containing ∼80 mol % of 1 and 20 mol % [G‐3]‐CH2Br was obtained. Dumbbell‐shaped [G‐3]‐PNIPAM310‐[G‐3] triblock copolymer was then successfully obtained by the RAFT polymerization of N‐isopropylacylamide (NIPAM) using 1 as the mediating agent, and trace amount of unreacted [G‐3]‐CH2Br was conveniently removed during purification by precipitating the polymer into diethyl ether. The dendritic‐linear‐dendritic triblock structure was further confirmed by aminolysis, and fully characterized by gel permeation chromatography (GPC) and 1H‐NMR. The amphiphilic dumbbell‐shaped triblock copolymer contains a thermoresponsive PNIPAM middle block, in aqueous solution it self‐assembles into spherical nanoparticles with the core consisting of hydrophobic [G‐3] dendritic block and stabilized by the PNIPAM central block, forming loops surrounding the insoluble core. The micellar properties of [G‐3]‐PNIPAM310‐[G‐3] were then fully characterized. © 2006 Wiley Periodicals, Inc. J Polym Sci Part A: Polym Chem 45: 1432–1445, 2007
New highly luminescent cationic polyelectrolytes based on poly(phenylenevinylene‐alt‐fluorenevinylene) or poly(fluorenevinylene) derivatives and their neutral precursors
Authors: Mikroyannidis John A. , Barberis Vasilis P.
Published: March 2007

Poly(phenylenevinylene‐alt‐fluorenevinylene) (PF) or poly(fluorenevinylene) (F) derivatives that carried alkyl chains with terminal tertiary amino groups were successfully synthesized via Heck coupling. They were postquaternized by reacting with bromoethane to the corresponding cationic polyelectrolytes PFQ and FQ. The neutral polymers PF and F as well as the quaternized polymer FQ were soluble in common organic solvents such as THF, chloroform, dichloromethane, and toluene. In contrast, the quaternized polymer PFQ did not dissolve in these solvents but was soluble in environmentally friendlier solvents like water and alcohols. The neutral precursors exhibited higher thermal stability and glass‐transition temperatures than the corresponding quaternized counterparts. All polymers emitted intense blue‐greenish light in solution (462–489 nm) with relatively high photoluminescence (PL) quantum yields 0.32–0.57, and as thin films (475–557 nm) with optical band gaps of 2.48–2.57 eV. The water soluble PFQ could find potential applications as chemo or biosensor. © 2006 Wiley Periodicals, Inc. J Polym Sci Part A: Polym Chem 45: 1481–1491, 2007
The assessment of pulmonary arterial pressures in bronchopulmonary dysplasia by cardiac catheterization and M‐mode echocardiography
Authors: Newth C. J. L. , Gow R. M. , Rowe R. D.
Published: March 2007

Severe (Stage IV) bronchopulmonary dysplasia (BPD) has been associated with pulmonary hypertension and right heart failure, with a mortality rate of 39%. Recently, M‐mode echocardiography has been used to measure right‐sided systolic time intervals (the ratio of right ventricular pre‐ejection period to ejection time; RVPEP/RVET), with a value > 0.35 predicting pulmonary hypertension. This measurement has also been used to predict outcome of BPD and response to oxygen therapy. A retrospective study of six infants with Stage IV BPD who had had cardiac catheterizations and M‐mode echocardiography is reported. By catheterization criteria, four of the six had pulmonary hypertension. By echocardiographic criteria, only two of the six had unequivocally prolonged RVPEP/RVET ratios, and correlations with mean or diastolic pulmonary arterial pressures were poor (0.069 and 0.255, respectively). The validity of M‐mode echocardiography in the assessment of the pulmonary vascular bed in Stage IV BPD is open to debate, and its role in predicting outcome and response to therapy is unknown.
Refractoriness to bronchoconstriction following hyperventilation with cold dry air
Authors: Soto Manuel E. , Schnall Robert , Landau Louis I.
Published: March 2007

Fifteen subjects undertook repeated periods of hyperventilation of cold dry air and hyperventilation of warm humidified air followed by cold dry air. Hyperventilation of cold dry air induced a biphasic response with initial bronchodilatation followed by bronchoconstriction. However, exercise produced a greater rise in forced expiratory volume in 1 second (FEV1) than hyperventilation alone. Hyperventilation of cold dry air resulted in a period of refractoriness to a second stress of the same type. Refractoriness induced by exercise or hyperventilation of cold dry air may be the result of refractoriness of the trigger site in the large airways.
The role of piperacillin therapy in pulmonary exacerbations of cystic fibrosis: A controlled study
Authors: Macfarlane P. I. , Hughes D. M. , Landau L. I. , Olinsky A.
Published: March 2007

Piperacillin was evaluated as an antipseudomonas antibiotic in a double‐blind controlled trial involving 18 pulmonary exacerbations of cystic fibrosis. Standard antibiotic treatment (flucloxacillin plus tobramycin) was compared with standard treatment plus intravenous piperacillin administered according to two regimens. No added benefit from piperacillin was demonstrable on the basis of improvement in symptoms, physical signs, weight gain, pulmonary function tests, radiologic signs, or sputum Pseudomonas bacterial counts. Some patients experienced sensitivity reactions to piperacillin. In vitro, piperacillin was a potent antibiotic against all β‐lactamase‐producing mucoid strains of Pseudomonas aeruginosa; however, in spite of the fact that adequate serum antibiotic concentrations were achieved, sputum bacterial counts did not correlate with either the clinical status or the use of piperacillin therapy. (Key words: combined parenteral antibiotics;cystic fibrosis; dosage intervals; /3‐lactamase‐pos. mucoid ps. a.; piperacillin effectiveness;piperacillin with probenicid.) Pediatr Pulmonol 1985; 7:249‐255.
The value and safety of percutaneous lung aspiration for children with serious pulmonary infections
Authors: Berge Rolando , Arango Leon
Published: March 2007

It is often difficult to establish the etiology of pulmonary infections in children. The diagnostic value and safety of percutaneous needle aspiration of the lung were investigated in 98 children who were suspected of having a bacterial pulmonary infection and who were seriously ill or had failed to respond to apparently adequate empiric antimicrobial therapy. The etiology of the pulmonary infection was established in 60 patients (61%); in the remaining 38 cases (39%) no bacterial microorganisms were recovered from the lung aspirate. Twenty‐four (40%) patients in whom the pathogen(s) were identified were already receiving empiric antimicrobial therapy, and in 18 (66%) the original therapeutic regimen had to be changed to optimally treat the isolated microorganism(s). A total of 11 complications occurred in 10 children (10%): 9 pneumothoraces and two instances of mild, self‐limited hemoptysis. Six of the pneumothoraces (66%) required treatment by either a thoracostomy and chest‐tube or simple percutaneous aspiration. There were no deaths related to the procedures. It was concluded that percutaneous needle aspiration of the lung in children is a potentially useful and reasonably safe technique for the diagnosis of pulmonary infection in carefully selected cases when an exact etiologic diagnosis is needed.
Aerosol delivery to the rabbit lung with an infant ventilator
Authors: Flavin M. , Macdonald M. , Dolovich M. , Coates G. , O'Brodovich H.
Published: March 2007

Little is known about delivery of aerosolized medications to infants undergoing assisted positive pressure ventilation. To assess delivery of medications to the lung with an infant ventilator (Bournes LS104), 27 experiments were performed on anesthetized adult rabbits. Lung deposition was determined by using aerosol radiolabeled with 99m technetium sulfur colloid. Initially a traditional nebulizer was studied and very inefficient delivery to the lung was observed (0.19 ± 0.10 SD% of the initial nebulizer dose). Subsequent experiments using a nebulizer that generates submicronic aerosol particles, at equivalent aerosol output, achieved a highly significant increase in delivery (1.96 ± 1.19 SD%, P < 0.001). Our experiments demonstrated that modifications to traditional nebulizer systems can enhance delivery of aerosolized medication to the lungs of rabbits.
Primary central alveolar hypoventilation in a child: Early diagnosis during acute illness; trials with respiratory stimuli; studies related to endorphins
Authors: Moss Immanuela R. , Cataletto Mary , Winnik Giora E.
Published: March 2007

Primary central alveolar hypoventilation (PCAH) has been described in adults, children, and infants. It is usually diasnosed clinically at an advanced stage when the secondary effects of chronic hypoxia and hypercapnia become evident. We report here PCAH in its early stage in a 7‐year‐old child, whose disease appeared as acute respiratory failure during an acute illness. When the acute illness subsided, the salient features of PCAH remained and were studied in some detail. We also describe the child's response to respiratory stimuli, and some results related to endorphins, including his plasma endorphin levels and response to a trial of naloxone.
Diurnal variation of peak expiratory flow rate in asthmatic children
Authors: Sly Peter D. , Hibbert Marienne E. , Landau Louis I.
Published: March 2007

A diurnal variation in peak expiratory flow rate (PEFR) has been described in normal and asthmatic adults. This variation has been apparent in data reported from children, but the rhythm has not been characterized. Sixty‐eight asthmatic children recorded PEFR three times a day for 4 weeks at home. Data were analyzed using paired t‐tests, cosinor analysis, and spectral analysis. Fifty subjects (73.5%) had significant diurnal variations in PEFR on paired t‐tests. Mean amplitude, derived from cosinor analysis, was 22.6% (SD = 13.2%) of mean PEFR. The troush of the PEFR rhythm occurred at 0345 hours for the sroup. Spectral analysis confirmed that the major component of the variation in PEFR was due to a rhythm with a period of 24 hours. The amplitude of the diurnal variation was not related to the subjects' age, sex, or medications taken but was inversely related to mean lung function (expressed as percentage predicted).
Normocarbic hyperventilation fails to induce pulmonary vasodilation
Authors: Lindenberg Jeffrey A. , Goetzman Boyd W. , Milstein Jay M. , Bennett Stephen H.
Published: March 2007

The pulmonary vasodilator effect of increased rate of mechanical ventilation, with and without respiratory alkalosis, was studied in chronically instrumented newborn lambs. Pulmonary hypertension was first induced by ventilating with a hypoxic gas mixture. Subsequent respiratory alkalosis caused significant decreases in pulmonary arterial pressure and pulmonary vascular resistance. When normocarbia was re‐established by adding carbon dioxide to the inspired gas, with the ventilator rate being held constant, the pressure and resistance returned to the baseline hypertensive state. Therefore, mechanical factors, either direct or indirect, appear to be of minor importance in the mechanism of pulmonary vasodilation secondary to frequency‐induced hyperventilation.
Protective value of BCG vaccination in children in Bangkok, Thailand
Authors: Chavalittamrong Burana , Chearskul Sanay , Tuchinda Montri
Published: March 2007

The protective effect of bacille Calmette‐Guérin (BCG) vaccination asainst tuberculosis is controversial. In a study, 330 patients less than 12 years of age with tuberculosis, 52.1% of whom had had BCG vaccination, were compared with a control group of 1106 patients free of tuberculosis, 81% of whom had BCG vaccination. The occurrence of disseminated forms of tuberculosis, tuberculous meningitis, tuberculous peritonitis, and tuberculosis of bone and joints in BCG‐vaccinated patients was quite low. With BCG vaccination, the incidence of the disseminated form of tuberculosis was significantly lower than that of pulmonary tuberculosis with pulmonary parenchymal lesions, primary pulmonary complexes, and pleural effusion. Tuberculous peritonitis was significantly less frequent than pulmonary tuberculosis with pulmonary parenchymal lesions, enlarged hilar glands, pulmonary primary complex, and pleural effusions. The study demonstrated that BCG gave an overall protective effect of 74% and that a major effect of this immunity was to produce a localized form of tuberculosis.