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Kinds of Centile Terms modified by Centile Selected AbstractsLong-term use of the ketogenic diet in the treatment of epilepsyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 12 2006Darcy K Groesbeck BS Long-term outcomes of the ketogenic diet in the treatment of epilepsy have not previously been reported. A retrospective chart review of children treated with the ketogenic diet for more than 6 years at the Johns Hopkins Hospital was performed. The response was documented at clinic visits and by telephone contacts; laboratory studies were obtained approximately every 6 to 12 months. Satisfaction and tolerability were assessed by means of a brief parental telephone questionnaire. In all, 28 patients (15 males, 13 females), currently aged 7 to 23 years, were identified. The median baseline seizure frequency per week at diet onset was 630 (range 1,1400). Diet duration ranged from 6 to 12 years; 19 remain on the diet currently. After 6 years or more, 24 children experienced a more than 90% decrease in seizures, and 22 parents reported satisfaction with the diet's efficacy. Ten children were at less than the 10th centile for height at diet initiation; this number increased to 23 at the most recent follow-up (p=0.001). Kidney stones occurred in seven children and skeletal fractures in six. After 6 years or more the mean cholesterol level was 201mg/dl, high-density lipoprotein was 54mg/dl, low-density lipoprotein was 129mg/dl, and triglycerides were 97mg/dl. Efficacy and overall tolerability for children are maintained after prolonged use of the ketogenic diet. However, side effects, such as slowed growth, kidney stones, and fractures, should be monitored closely. [source] Corrected head circumference centiles as a possible predictor of developmental performance in high-risk neonatal intensive care unit survivorsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2005François V Bolduc MD FRCPC The aim of this study was to evaluate the predictive value of corrected head circumference (HC) centiles at 2 years of age with respect to developmental performance in a series of high-risk neonatal intensive care unit (NICU) survivors with microcephaly. The study used a retrospective review of the clinical files of children seen in a clinic devoted to the follow-up of all high-risk survivors of a hospital's level III NICU. All children with microcephaly (occipital-frontal circumference below the 2nd centile for sex) at 2 years of age were identified. The HC obtained at 2 years was corrected to the ages for which the absolute HC corresponded to either the 50th or 2nd centile for the child's sex. Of 312 high-risk patients followed, 38 (12.2%) were microcephalic. Fifteen performed below the 50th age-corrected HC centile (severe developmental delay), 12 performed between the 50th and 2nd age-corrected HC centile (moderate developmental delay), and 11 performed above the 2nd age-corrected HC centile (mild developmental delay). The absolute value of HC measurement was not a predictor of developmental performance. Of all clinical factors evaluated, only coexisting epilepsy was found to be a significant predictor of less than the 50th age-corrected HC centile developmental performance (Chi2=6.134, p=0.01). We conclude that in a high-risk population, the presence of microcephaly implies developmental impairment, though neither the absolute HC measurement nor the corrected HC centile is predictive. Coexisting epilepsy in this context appears to worsen developmental outcome. [source] Factors associated with microcephaly at school age in a very-low-birthweight populationDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 12 2003Claudia A Chiriboga MD MPH The neonatal predictors of microcephaly, defined as a head circumference <5th centile in children born preterm, has not been systematically assessed. Children were drawn from the Developmental Epidemiology Network (DEN) cohort of very low-birth weight children (VLBW: 500,1500g) born from 1991 to 1993 at three sites in the USA. Neurological assessments were carried out among 198 singleton children (mean age 6 years 8 months, SD 0.5 years). Ninety-six children (48.5%) were male. Microcephaly was observed in 30 children (15%) and, using multivariate analysis, it was found to be associated with gestational age <26 weeks and bronchopulmonary dysplasia (BPD). Sonography-defined white-matter damage (WMD, i.e. echolucency or echodensities) was not associated with increased odds of microcephaly, while occurrence of intraventricular hemorrhage (IVH) was in univariate but not multivariate analysis. In analyses that excluded children with IVH/WMD, odds of microcephaly increased in dose-related fashion according to number of days on ventilator: >5 days, OR=4.5; 95%CI=1.4 to 15; >10 days, OR=5.7; 95%CI=1.7 to 19; >15 days OR=8.3; 95% CI=2.3 to 29.2. Among children without BPD, microcephaly was not associated with differences in IQ, while IQ scores among children with BPD or any ventilation were disproportionately lower among those with microcephaly. In multivariate analyses predicting IQ at age 7 years, microcephaly was found to modify the association between neonatal lung disease and IQ. [source] Hearing loss in Fabry disease: data from the Fabry Outcome SurveyEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 9 2006S. Hegemann Abstract Background, Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological description of hearing impairment in patients in the Fabry Outcome Survey (FOS), which is the largest available database of Fabry patients. Materials and methods, Questionnaires were completed by 566 Fabry patients, of whom 316 reported ear-related symptoms. Pure-tone audiograms from 86 patients, performed before starting enzyme replacement therapy, were analysed and compared with age- and sex-specific normal values (International Organization for Standardization, ISO 7029). Results, When compared to an age-matched population (ISO 7029), 74% of patients had a threshold elevated above the 95th centile in at least one tested frequency. All frequencies were affected to a similar degree. However, only 14 patients (16%) were clinically affected by hearing impairment according to the age-independent World Health Organization (WHO) classification (mean threshold at 0·5, 1 and 2 kHz worse than 25 dB). Hearing loss was sensorineural in 63 patients (73%) of whom 7 patients (8%) had also a conductive component. One patient had a purely conductive hearing loss. Episodes of sudden hearing loss seemed to occur more frequently than in the general population. Men were affected earlier and more severely than women. Conclusions, Hearing in Fabry disease is significantly worse than in an age-matched general population but leads to clinically relevant hearing impairment in only 16% of cases. It resembles accelerated presbycusis with an additional Fabry-specific strial-type hearing loss. [source] Impact of inter-individual differences in drug metabolism and pharmacokinetics on safety evaluationFUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 6 2004J.L.C.M. Dorne Abstract Safety evaluation aims to assess the dose,response relationship to determine a dose/level of exposure for food contaminants below which no deleterious effect is measurable that is ,without appreciable health risk' when consumed daily over a lifetime. These safe levels, such as the acceptable daily intake (ADI) have been derived from animal studies using surrogates for the threshold such as the no-observed-adverse-effect-level (NOAEL). The extrapolation from the NOAEL to the human safe intake uses a 100-fold uncertainty factor, defined as the product of two 10-fold factors allowing for human variability and interspecies differences. The 10-fold factor for human variability has been further subdivided into two factors of 100.5 (3.16) to cover toxicokinetics and toxicodynamics and this subdivsion allows for the replacement of an uncertainty factor with a chemical-specific adjustment factor (CSAF) when compound-specific data are available. Recently, an analysis of human variability in pharmacokinetics for phase I metabolism (CYP1A2, CYP2A6, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, hydrolysis, alcohol dehydrogenase), phase II metabolism (N-acetyltransferase, glucuronidation, glycine conjugation, sulphation) and renal excretion was used to derive pathway-related uncertainty factors in subgroups of the human population (healthy adults, effects of ethnicity and age). Overall, the pathway-related uncertainty factors (99th centile) were above the toxicokinetic uncertainty factor for healthy adults exposed to xenobiotics handled by polymorphic metabolic pathways (and assuming the parent compound was the proximate toxicant) such as CYP2D6 poor metabolizers (26), CYP2C19 poor metabolizers (52) and NAT-2 slow acetylators (5.2). Neonates were the most susceptible subgroup of the population for pathways with available data [CYP1A2 and glucuronidation (12), CYP3A4 (14), glycine conjugation (28)]. Data for polymorphic pathways were not available in neonates but uncertainty factors of up to 45 and 9 would allow for the variability observed in children for CYP2D6 and CYP2C19 metabolism, respectively. This review presents an overview on the history of uncertainty factors, the main conclusions drawn from the analysis of inter-individual differences in metabolism and pharmacokinetics, the development of pathway-related uncertainty factors and their use in chemical risk assessment. [source] Genotype-phenotype analysis in childhood-onset Crohn's disease: NOD2/CARD15 variants consistently predict phenotypic characteristics of severe diseaseINFLAMMATORY BOWEL DISEASES, Issue 11 2005Richard K Russell Abstract Introduction: The incidence of early-onset CD in Scotland is among the highest worldwide. Three single nucleotide polymorphisms (SNPs) R702W, G908R and Leu1007finsC in the NOD2/CARD15 gene predispose to adult CD. We investigated the contribution of these variants to disease susceptibility and phenotype in the Scottish early-onset IBD population. Patients and Methods: 906 individuals including 247 Scottish IBD patients aged <16 years at diagnosis, 414 parents and 245 controls were genotyped. Transmission disequilibrium testing (TDT), case-control analysis and detailed genotype-phenotype analysis were performed. Results: The Leu1007finsC variant was associated with susceptibility to CD by case-control (4.2% versus. 1.4%, P = 0.01) and TDT analysis (P = 0.006). The Population Attributable Risk (PAR) for the 3 NOD2/CARD15 mutations was 7.9%. Carriage of NOD2/CARD15 variants was associated with, at diagnosis: decreased albumin (31.0% versus. 9.0%, P = 0.001) and raised CRP (25% versus. 9.5%, P = 0.04) and at follow up: need for surgery (39.5% versus. 12.8%, P = 0.0002) jejunal involvement (50% versus. 18.4%, P = 0.01) jejunal and ileal involvement (50% versus. 10.7%, P = 0.009), raised CRP (57.1% and 12.8%, P = 0.0009), lower weight/height centile (75.0% versus. 20.2%, P = 0.03, 50.0% versus. 16.0%, P = 0.001 respectively) and stricturing disease (45.5% versus. 19.4%, P < 0.05). Multifactorial analysis demonstrated carriage was associated with need for surgery (P = 0.004, OR 4.9 [1.5-14.7]). Conclusions: These NOD2/CARD 15 variants in the Scottish early onset CD population have a definite, albeit relatively small contribution to CD susceptibility (PAR 7.9%) but a major impact on phenotype. In particular NOD2/CARD15 variants are strongly associated with several markers of disease severity in pediatric CD, notably need for surgery. [source] Foetal haemoglobin in homozygous sickle cell disease: a study of patients with low HBF levels*INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 5 2001A. Donaldson High foetal haemoglobin (HbF) levels are believed to ameliorate the manifestations of homozygous sickle cell (SS) disease. The corollary implies that patients with low HbF levels should have more severe clinical courses. We investigated this in a retrospective study of 50 Jamaican patients with steady-state HbF levels below 1% compared with a control group (A) of 54 subjects with steady-state HbF levels between 2.5 and 3.4% (around the 25th centile for our population), and a second control group (B) of 60 patients with steady-state HbF levels between 4.6 and 5.2% (around the 50th centile). Comparisons across the groups indicated significantly fewer females in the study group (16, 50 and 57%, respectively). Examination for haematological trends across the groups showed positive linear trends for haemoglobin (Hb) (P=0.004), packed cell volume (PCV) (P=0.01), mean cell volume (MCV) (P=< 0.001), mean cell haemoglobin (MCH) (P=< 0.001) and a negative trend for haemoglobin A2 (P=0.03). Clinically, there were no differences in the incidence of painful crises, abdominal crises and the acute chest syndrome, but leg ulcers were significantly less frequent in the study group (P=0.04). Therefore low HbF levels do not appear to increase the clinical severity of SS disease and may be protective against leg ulceration. [source] Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissuesJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2010Vincenzo Mazza Abstract We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16th week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of cord blood during the 20th week of pregnancy showed a normal male karyotype; however, a placental biopsy that was performed at the same time showed 100% and 95% trisomic cells in the chromosomal analysis of direct and long-term cultures, respectively. A follow-up ultrasonographic examination excluded major congenital malformations and the abdominal and cranial circumferences were normal until the 24th week of pregnancy. At this point, a deflection of the growth curve occurred and the values were persistently below the 3rd centile until birth. After birth, karyotypic and fluorescent in situ hybridisation analyses performed on the fibroblasts of the neonate showed that 3,4% of the cell lines were trisomic, and studies using microsatellite markers showed normal allelic segregation, which excluded uniparental disomy. The period of postnatal follow-up was characterised by a significant growth deficit (height and head circumference were less than the 3rd centile) and by mental retardation. The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality. [source] Weight monitoring of breastfed babies in the UK , centile charts, scales and weighing frequencyMATERNAL & CHILD NUTRITION, Issue 2 2005Magda Sachs ba, ma (cantab) Abstract Weighing infants during their first 6 months is an important focus of growth monitoring and a common activity of child health care services worldwide. In these same months, health workers provide support for breastfeeding and promote continued exclusive breastfeeding. The literature on the practice of weighing breastfed babies is reviewed, as it applies to the United Kingdom. The shape of the growth curves for breastfed babies differs from that of formula-fed infants and also from centile charts previously in use. The World Health Organization commitment to the production of a new growth reference has generated discussion of the implications of charts in use. The country-specific charts in use in the UK are examined and the data used to construct them discussed with reference to clinical use for breastfed infants. Recent UK discussions on charts, as well as on the frequency of routine weighing for babies in the community are considered, and the available evidence on the accuracy of weighing in practice is noted. The choices made in constructing different charts; the physical condition of scales and their use in practice have implications for plotted growth. This paper aims to present a wide range of evidence available in this area in order to encourage debate on practice. A companion paper will discuss issues of interpretation, conveying information to parents, and interventions. [source] Prevalence of obesity among schoolchildren in IranOBESITY REVIEWS, Issue 4 2007S. M. T. Ayatollahi Summary The prevalence of overweight and obesity among schoolchildren aged 6.5,11.5 years in Shiraz (southern Iran) are presented in this paper. The body mass index (BMI) percentiles of these children are compared with the Center for Disease Control and Prevention (CDC) reference data and with the Iranian standard. The data are based on a random multistage sample survey of 2397 healthy school attenders (1268 boys, 1129 girls) living in Shiraz, whose heights and weights were measured in the 2002,2003 academic year. Joint height and weight measurements were obtained for 2195 schoolchildren (91.6%), consisting of 1138 boys (89.7%) and 1057 girls (93.6%). A total of 77 boys (6.8%) and 40 girls (3.8%) were overweight, and the difference between them was significant (P = 0.001). However, obesity was significantly less prevalent in boys (3.3%) than in girls (6.1%) (P = 0.001). Our children's median BMI lie almost on the 38th centile of the CDC reference data, whereas that of their counterparts born more than 10 years ago lay on the 20th centile of their American counterparts, showing the development of children's obesity in a period of less than 15 years in Iran. A positive secular trend in BMI has been seen during the past decade in Iran, suggesting policymakers and health professionals should pay special attention to children's health. [source] Is home spirometry useful in diagnosing asthma in children with nonspecific respiratory symptoms?,PEDIATRIC PULMONOLOGY, Issue 4 2010Alwin F.J. Brouwer MD Abstract Background Variation of lung function is considered to be a hallmark of asthma. Although guidelines recommend measuring it as a diagnostic tool for asthma, the usefulness of this approach has not been studied in children. Aim To assess the usefulness of home spirometry in children with nonspecific lower respiratory tract symptoms, to diagnose or exclude asthma. Methods In school-aged children, referred by their general practitioner because of chronic respiratory symptoms of unknown origin, the diagnosis of asthma was made or excluded by a pediatric pulmonologist (gold standard), based on international guidelines and a standardized protocol. Additionally, children measured peak expiratory flow (PEF) and forced expiratory flow in 1,sec (FEV1) twice daily for 2 weeks on a home spirometer, from which diurnal variation was calculated. These results (index test) were not revealed to the pediatric pulmonologist. The value of home spirometry to diagnose asthma was calculated. Results Sixty-one children (27 boys) were included (mean age: 10.4 years; range: 6,16 years). Between asthma and no asthma, the mean difference in PEF variation was 4.4% (95% CI: 0.9,7.9; P,=,0.016) and in FEV1 variation 4.5% (95% CI: 1.6,7.4; P,=,0.003). Sensitivity and specificity, based on the 95th-centile of the reference values for PEF and FEV1 variation (12.3% and 11.8%, respectively) were 50% and 72% for PEF variation and 45% and 92% for FEV1 variation. The likelihood ratio was 1.8 for PEF and 5.6 for FEV1. Conclusions The contribution of home spirometry in the diagnostic process for asthma in schoolchildren with nonspecific respiratory symptoms is limited. Pediatr Pulmonol. 2010; 45:326,332. © 2010 Wiley-Liss, Inc. [source] Doll-like face: Is it an underestimated clinical presentation of cystic fibrosis?PEDIATRIC PULMONOLOGY, Issue 7 2008Mehmet Kose MD Abstract Cystic fibrosis (CF) is the most prevalant inheritable chronic disease in caucasian children. The clinical syndrome of kwashiorkor is well-recognized complication of CF. The edema of the face can be seen in kwashiorkor. As doll-like face is very rare and underestimated clinical presentation of CF patients complicated with hypoproteinemia we evaluated demographic features and laboratory characteristics of 5 patients diagnosed as CF with doll-like face. Methods: Between June 2005 and January 2008, 115 children were diagnosed as having CF enrolled in our center. Five infants were diagnosed as CF with doll-like face before the age of 6 months participitated in study. Results: The incidence of doll-like face younger than the 6 months of age were 9.4% in our center. 48 infants diagnosed as CF without doll-like face before the age of 6 months participitated in the study as controls (group2). Physical examination revealed doll-like face and pitting edema of lower extremities in group 1. Their weight and length were under the third centile. Laboratory findings of group 1 include: mean hemoglobin 7.6g/dl; mean total protein 4.4 g/dl; albumin 2.3 g/dl. When compared control group in order to; 11.4 g/dl (range 7.6,17.9); 6.2 g/dl (range 4.0,8.8); 4.7 g/dl (range 2.1,5.8). mean hemoglobin, total protein and albumin values were lower in group 1. Conclusion: In a subgroup of patients, doll-like face may be the presenting manifestation of CF. Especially in developing countries clinicians should be aware of in patients with malnutrition and doll-like face and CF should be considered in differential diagnosis. Pediatr Pulmonol. 2008; 43:634,637. © 2008 Wiley-Liss, Inc. [source] Effects of folic acid on preschool children's appetite: Randomized triple-blind clinical trialPEDIATRICS INTERNATIONAL, Issue 5 2007NIKTA HATAMIZADEH Abstract Background: In recent years some Iranian pediatricians have used folic acid empirically as an appetite-enhancing drug in poor-appetite, low-weight children. Many parents have expressed their satisfaction with this treatment but until now no study has been done to confirm or exclude folic acid as an appetite enhancer. Methods: In order to determine if complementary folic acid has any effect on preschool children's appetite, 61 3,5-year-old children (27 girls and 34 boys) whose weight/age and weight/height ratios were below the 25 centile and whose parents regarded them as having poor appetite were randomly assigned to receive either folic acid (1 mg/day) or placebo for 20 days. The primary outcome measures were any appetite changes during and 1 month after the end of the intervention, measured by means of a questionnaire completed by parents on the 20th and 60th days. Secondary measures were mean weight gain on the 30th and 60th days. Results: Children who received folic supplement had a significantly better appetite on the 20th day than those who received placebo (mean difference of appetite score: 1.7; 95% confidence interval: 0.1,3.4; P = 0.04) and significantly more children receiving folic acid were reported to have increased appetite than the placebo group (P = 0.03). But 40 days after the end of the intervention there was no difference between the two groups. Weight gain did not significantly differ between groups. Conclusions: Although folic acid appears to improve preschool children's appetite, further study is necessary to determine whether it has any effect on growth as an adjunctive to management protocols of low appetite for undernourished children. [source] Low PAPP-A in the first trimester is associated with reduced fetal growth rate prior to gestational week 20PRENATAL DIAGNOSIS, Issue 6 2010J. D. Salvig Abstract Objective To evaluate the association between maternal pregnancy-associated plasma protein-A (PAPP-A) and fetal growth from the first to the second trimester. Methods A prospective cohort study including 8347 pregnant women attending prenatal care at Aarhus University Hospital were conducted. PAPP-A was measured during 8 to 14 gestational weeks. Fetal growth between the two scans in the first and second trimesters was estimated by (GA20, GA12)/Dayscalendar, where GA12 reflects gestational age in days calculated from crown-rump length at a 12-week scan, GA20 reflects gestational age in days calculated from biparietal diameter at a 20-week scan, and Dayscalendar reflects the number of calendar days between the two scans. Results Fetal growth rate from the first to the second trimester was correlated with PAPP-A, with a regression coefficient of 0.009 (95% CI, 0.007,0.012, P < 0.001). PAPP-A below 0.30 MoM was associated with a fetal growth rate below the tenth centile, with an adjusted OR of 2.05 (95% CI, 1.24,3.38). Conclusion Low levels of PAPP-A are associated not only with low birth weight at term but also with slower fetal growth prior to 20 weeks of gestation. Copyright © 2010 John Wiley & Sons, Ltd. [source] Detection of maternal serum hCG glycoform variants in the second trimester of pregnancies affected by Down syndrome using a lectin immunoassayPRENATAL DIAGNOSIS, Issue 1 2003J. A. Talbot Abstract Aim To assess whether glycoform variants of human chorionic gonadotrophin (hCG) are present in altered concentrations in the maternal serum in pregnancies affected by Down syndrome. Methods In a series of 50 cases of pregnancies complicated by Down syndrome and 278 unaffected pregnancies, we have examined maternal serum levels of hCG glycoforms (GlyhCG) in samples collected in the second trimester (14 to 21 weeks) using a sialic acid binding lectin immunoassay. We have compared these levels with those of other second trimester serum markers (Free ,-hCG, alpha fetaprotein (AFP) and Total hCG) and modelled detection rates and false positive rates of various biochemical markers in conjunction with maternal age using a maternal age standardized population. Results Maternal serum GlyhCG in cases of Down syndrome was significantly elevated (Median MoM 1.81) with 15 of 50 (30%) cases above the 95th centile for unaffected pregnancies. Free ,-hCG was also elevated (Median MoM 2.16) with 18 of 50 (36%) cases above the 95th centile. AFP levels were reduced (Median MoM 0.75) with 9 of 50 (18%) cases below the 5th centile. Total hCG levels whilst elevated (Median MoM 1.88) had only 15 of 50 (30%) cases above the 95th centile. Maternal serum GlyhCG levels showed significant correlation with total hCG and free ,-hCG (r = 0.6880 and 0.6922) in the Down group but not with AFP (r = 0.1237). When GlyhCG was combined together with AFP and maternal age, at a 5% false positive rate, the modelled detection rate was 53%, some 13% lower than when free ,-hCG was used and some 7% lower than when total hCG was used. Conclusion Maternal serum GlyhCG, as measured by the sialic acid,binding lectin immunoassay is unlikely to be of additional value when screening for Down syndrome in the second trimester. Copyright © 2002 John Wiley & Sons, Ltd. [source] Perinatal imaging findings of inherited Sotos syndromePRENATAL DIAGNOSIS, Issue 10 2002Chih-Ping Chen Abstract Objectives Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. Case This was the second pregnancy of a 32-year-old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g, length 55 cm, and occipitofrontal head circumference 41 cm (all > 97th centile). The magnetic resonance imaging (MRI) scans demonstrated enlargement of the lateral ventricles, the trigones, and the occipital horns, hypoplasia of the corpus callosum, a persistent cavum septum pellucidum and cavum vergae, and macrocisterna magna. Conclusions Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis. Copyright © 2002 John Wiley & Sons, Ltd. [source] Duplication of chromosome 2 in association with ventriculomegaly , a case reportPRENATAL DIAGNOSIS, Issue 13 2001W. L. Martin Abstract This is a case report of the prenatal diagnosis of a de novo interstitial duplication of chromosome 2 (46,XX,dup(2)(p13p21) de novo) with an associated phenotypic abnormality. This chromosomal duplication is rare, only one has previously been described prenatally. Postnatal reports of similar duplications in this region have described associated dysmorphic features and significant neurodevelopmental delay. In our case, the only ultrasound finding was moderately severe ventriculomegaly. At post-mortem, ventriculomegaly was confirmed and there was associated macrocephaly (head circumference above the 97th centile) with no dysmorphic features seen. Copyright © 2001 John Wiley & Sons, Ltd. [source] Maternal serum levels of dimeric inhibin A in pregnancies affected by trisomy 21 in the first trimesterPRENATAL DIAGNOSIS, Issue 6 2001Kevin Spencer Abstract Dimeric inhibin A was measured in maternal serum samples from 45 pregnancies affected by trisomy 21 and 493 samples from unaffected pregnancies at 10,14 weeks of gestation. Inhibin A levels in affected pregnancies were compared with levels of free ,-hCG and PAPP-A in the same series. In the trisomy 21 group, the median multiple of the median (MoM) inhibin A was not significantly elevated (1.28 vs 1.00) with only 15.5% being above the 95th centile. In contrast, the median MoM free ,-hCG was significantly increased (2.05 vs 1.00) with 36% above the 95th centile and PAPP-A was significantly reduced (0.49 vs 1.00) with 42% below the 5th centile. Inhibin A levels in the trisomy 21 group were significantly correlated with gestational age such that median levels rose from 1.04 at 11 weeks to 1.30 at 12 weeks and 1.67 at 13 weeks. These findings suggest that first trimester biochemical screening for trisomy 21, which is currently optimised using maternal serum free ,-hCG and PAPP-A and fetal nuchal translucency, will not benefit from the inclusion of inhibin A. Copyright © 2001 John Wiley & Sons, Ltd. [source] Mealtime energy intake and feeding behaviour in children who fail to thrive: a population-based case-control studyTHE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 5 2004Kathryn N. Parkinson Background:, The essential link between energy needs and energy intake is feeding behaviour, yet few studies have directly observed feeding behaviour in children who have failed to thrive. A cohort of 961 term infants was screened to identify children with first year weight gain below the 5th centile in order to examine their feeding behaviour and food intake. Methods:, A nested case-control study was used with direct observation at 13,21 months over two lunchtime meals, one consisting of finger foods and the other of ,spoon foods'. Thirty children who failed to thrive and 57 controls were studied. The video-tapes were coded for feeding behaviour using a behavioural coding inventory which distinguishes between children feeding themselves and responding to being fed by their mother. The main outcome measures were counts of five feeding actions (give, accept, feedself, refuse, reject) and measures of energy intake, the weight of food eaten and meal duration. Results:, There were systematic differences in feeding behaviour between meal types, with mothers feeding their child more often at meals comprising spoon foods and children feeding themselves more often at meals comprising finger foods. By weight, more food was consumed at the spoon food meals, but energy intake was no higher, showing that the children compensated for the differing energy yields of the foods. Children who failed to thrive took in less energy than controls, and were less likely to sit in a highchair throughout the meal, but there were no clear differences in other aspects of feeding behaviour. Conclusions:, Food type is an important variable when studying childhood feeding behaviour. Children who fail to thrive take in less energy than controls of the same age, despite there being no major differences in mealtime feeding behaviour. [source] Use of thymosin ,15 as a urinary biomarker in human prostate cancerTHE PROSTATE, Issue 2 2005Lloyd M. Hutchinson Abstract BACKGROUND Additional prostate cancer (CaP) biomarkers are needed to increase the accuracy of diagnosis and to identify patients at risk of recurrence. In tissue-based assays, thymosin ,15 (T,15) has been linked to an aggressive CaP phenotype and correlated with future tumor recurrence. We hypothesized that T,15 may have clinical utility in biological fluids. METHODS T,15 was measured in urine from CaP patients; untreated (N,=,61), prostatectomy (RP, N,=,46), androgen deprivation therapy (ADT, N,=,14) and control groups; normal (N,=,52), genitourinary carcinoma (N,=,15), non-malignant prostate disease (N,=,81), and other urology (N,=,73). We evaluated the utility of urinary T,15 for CaP diagnosis, alone or in combination with prostate-specific antigen (PSA), and the relationship to CaP progression. RESULTS A normal threshold of 40 (ng/dl)/(,g_protein/mg_creatinine) was defined using receiver operating characteristic analysis and marked the 19th centile for age-matched controls. The proportion of untreated CaP patients with urinary T,15 above the threshold was significantly higher than normal and genitourinary disease controls (P,<,0.001). RP caused urinary T,15 to drop significantly (P,=,0.005). Pre-surgery T,15 concentrations greater than the normal threshold may confer greater risk of CaP recurrence. Relative to normal controls, patients receiving ADT for aggressive CaP were 12 times more likely to have elevated urinary T,15 (P,=,0.001, 95% CI,=,2.8, 51.8). Combining PSA and T,15 (PSA,>,4, or PSA,>,2.5, T,15,>,40, or PSA,=,2.5, T,15,>,90) provided the same sensitivity as a 2.5 ng/ml PSA cutoff, but markedly improved diagnostic specificity. CONCLUSIONS We report that T,15 is a urinary biomarker for CaP and suggest that T,15, in combination with PSA, can be used to improve both the sensitivity and specificity of CaP diagnosis. © 2005 Wiley-Liss, Inc. [source] Appropriate laryngeal mask airway size for overweight and underweight childrenANAESTHESIA, Issue 1 2010H. J. Kim Summary The aim of this study was to compare conventional laryngeal mask airway sizing by weight with sizing by age in over- or underweight children. We studied 26 overweight (body mass index > 85th centile) and 26 underweight (body mass index < 15th centile) children. After general anaesthesia was induced, laryngeal mask airways sized by the patient's weight and by an ideal weight (estimated from the patient's age according to standardised tables) were inserted consecutively. In overweight children, oropharyngeal leak pressure was significantly greater when the laryngeal mask was sized by the patient's actual weight. On the other hand in underweight children, it was significantly greater when sized by the ideal weight. In conclusion, laryngeal mask airway sizing according to the manufacturer's weight-based recommendation is to be preferred in overweight children, but laryngeal mask airway size by an ideal weight estimated from the patient's age is a better choice in underweight children. [source] Clinical characteristics and outcome analysis of pediatric B-cell non-Hodgkin's lymphoma.ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, Issue 1 2010Experience with FAB-LMB 9, UKCCSG B-cell NHL guidelines in a developing country Abstract Aim: To analyze the clinical characteristics of B-cell non-Hodgkin's lymphoma (NHL) patients and the therapeutic efficacy of French-American-British Lymphoma Malins de Burkitt 96 and the recent United Kingdom Children's Cancer Study Group B-cell NHL guidelines in the tertiary care hospital of a developing country. Methods: Patients aged ,18 years registered at our hospital between January 1995 and December 2006 with histologically proved B-Cell NHL were selected for retrospective analysis. Results: Of the total of 131 patients registered, 122 patients were eligible for evaluation. Of these 95 had Burkitt's lymphoma, 22 diffuse large B-cell lymphoma and five had B-cell NHL not otherwise specified. The mean age was 8.4 years. Overall 42 children had a baseline weight less than the 10th centile. A total of 37 had uric acid >10 mg/dl and 55 had a lactate dehydrogenase level >500; 73 had stage III and 31 had stage IV while only four presented at stage I and 14 at stage II. The abdomen was the commonest site of disease. A total of 45 patients died; 28 due to infection, nine due to tumor lysis syndrome and six of uncontrolled disease. All deaths occurred within an average of 35 days from starting treatment. Our 5-year overall survival rate was 68 percent and our event-free survival was 55 percent. Conclusion: Late presentation with advanced disease, poor nutritional status and high risk of exposure to infective agents all contribute to the high mortality in patients treated with intensive protocols in resource-poor countries. [source] A comparison of the Perinatal Society of Australia and New Zealand-Perinatal Death Classification system and relevant condition at death stillbirth classification systemsAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 5 2009Jye Ru LU Background: Stillbirths comprise two-thirds of all perinatal mortality. A classification system with low ,unexplained' stillbirth rates is important when developing prevention strategies. Aims:, This study aims to (i) determine whether the proportion of stillbirths classified as ,unexplained' is reduced, by using the relevant condition at death (ReCoDe) stillbirth classification system, compared with the Perinatal Society of Australia and New Zealand , Perinatal Death Classification (PSANZ-PDC) system; and (ii) compare the proportion of stillbirths attributed to fetal growth restriction and other causes by each system. Methods:, The ReCoDe stillbirth classification system was applied to the National Women's Health's stillbirth database for years 2004,2007. The proportion of stillbirths classified as ,unexplained' and as a result of fetal growth restriction was compared between the ReCoDe and the PSANZ-PDC systems using the ,2 test. Results:, The proportion of stillbirths classified as unexplained was less with ReCoDe compared with PSANZ-PDC (8.5% (n = 26) vs 14.1% (n = 43) P = 0.04). The proportion with the primary cause attributed to fetal growth restriction was increased with ReCoDe compared with PSANZ-PDC (23.2% (n = 71) vs 8.2% (n = 25) P < 0.0001). However, 44.8% (n = 137) of all stillbirths were small for gestational age (birthweight < 10th customised centile). The most common primary cause or condition at death by both systems was congenital abnormalities. Conclusion:, The proportion of stillbirths classified as unexplained was less with ReCoDe compared with PSANZ-PDC but rates with either method were low compared with earlier classification systems. Fetal growth restriction was listed as the primary condition more commonly with ReCoDe compared with PSANZ-PDC because of different definitions. [source] Maternal sleep deprivation is a risk factor for small for gestational age: A cohort studyAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 4 2009Chrishantha ABEYSENA Aims: To determine trimester-specific risk factors for small-for-gestational-age (SGA) infants. Methods: A population-based prospective cohort study was conducted in Sri Lanka from May 2001 to April 2002. Pregnant women were recruited on or before 16 weeks of gestation and followed up until delivery. The sample size was 690. Trimester-specific exposure status and potential confounding factors were gathered on average at 12th, 28th and 36th weeks of gestation. SGA was assessed using customised birth centile charts. Multiple logistic regression was applied, and the results were expressed as odds ratios (OR) and 95% confidence intervals (95%CI). Results: The risk factors for SGA less than 5th centile were shift work and exposure to physical and chemical hazards during 2nd and 3rd trimesters (OR 4.20, 95%CI 1.10,16.0), sleeping for less than or equal to 8 h during 2nd or 3rd or both trimesters (OR 2.23, 95%CI 1.08,4.59), walking for less than or equal to 2.5 h per day (OR 2.66, 95%CI 1.12,6.31) and alcohol consumption during the 3rd trimester (OR 14.5, 95%CI 2.23,94.7). Poor weekly gestational weight gain was significantly associated with both SGA < 10th and < 5th centiles. None of the other factors became significant for SGA < 10th centile. Conclusions: Risk factors for SGA less than 5th centile were sleep deprivation and shift work and exposure to physical and chemical hazards during 2nd and 3rd trimesters, less walking hours and alcohol consumption during 3rd trimester. Poor weekly gestational weight gain may be considered as a predictor of delivering an SGA infant. [source] Customised birthweight centiles are useful for identifying small-for-gestational-age babies in women with type 2 diabetesAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 2 2009Janet A. ROWAN Background: Customised birthweight centiles identify small-for-gestational-age (SGA) babies at increased risk of morbidity more accurately than population centiles, but they have not been validated in obese populations. Aims: To compare the rates of SGA by population and customised birthweight centiles in babies of women with type 2 diabetes and examine perinatal outcomes in customised SGA infants. Methods: Data were from a previous retrospective cohort study detailing pregnancy outcomes in 212 women with type 2 diabetes. Customised and population birthweight centiles were calculated; pregnancy details and neonatal outcomes were compared between groups that delivered infants who were SGA (birthweight < 10th customised centile) and appropriate weight for gestational age (AGA) (birthweight 10,90th customised centile). Results: Fifteen (7%) babies were SGA by population centiles and 32 (15%) by customised centiles. Two babies of Indian women were reclassified from SGA to AGA by customised centiles. Nineteen babies were reclassified from AGA to SGA by customised centiles; of these, 15 (79%) were born to Polynesian women, five (26%) were born less than 32 weeks and two (11%) were stillborn. Customised SGA infants, compared with AGA infants, were more likely to be born preterm (19 (59%) vs 20 (16%), P < 0.001) and more likely to be stillborn (4 (13%) vs 0 P = 0.001). After excluding still births, admission to the neonatal unit was also more common (19 of 28 (68%) vs 43 of 127 (34%), P < 0.001). Conclusions: In our population more babies were classified as SGA by customised compared with population centiles. These customised SGA babies have high rates of morbidity. [source] Small for gestational age preterm infants and relationship of abnormal umbilical artery Doppler blood flow to perinatal mortality and neurodevelopmental outcomesAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 1 2009Antonia W. SHAND Aim: To determine the outcomes of preterm small for gestational age (SGA) infants with abnormal umbilical artery (UA) Doppler studies. Methods: A retrospective cohort study of SGA singleton infants delivered between 24 and 32 weeks gestation at King Edward Memorial Hospital, Perth, who had UA Doppler studies performed within seven days of birth. Main outcomes assessed were perinatal mortality and morbidity, and neurodevelopmental outcomes at , 1 year of age. Outcomes were compared by normality of UA blood flow. Results: There were 119 infants in the study: 49 (41%) had normal UA Doppler studies, 31 (26%) had an increased systolic,diastolic ratio , 95th centile, 19 (16%) had absent end diastolic blood flow (AEDF) and 20 (17%) had reversed end-diastolic flow (REDF). Infants in the AEDF and REDF groups were delivered significantly more preterm (P = 0.006) and had lower birthweights (P < 0.001). Ninety four per cent (110 of 117) of live born infants survived. Neurodevelopmental follow-up at 12 months of age or more (median 24 months) was available on 87 of 108 (81%) of live children. Twenty-eight per cent (11 of 39) of fetuses who had had AEDF or REDF died or were classified with moderate or severe disability. There was no significant association between abnormality of UA blood flow, perinatal morbidity, perinatal mortality and neurodevelopmental disability after correction for gestational age. Conclusion: Fetuses that are SGA with abnormal UA Doppler studies remain at significant risk of perinatal death, perinatal morbidity and long-term neurodevelopmental disability, associated with their increased risk of preterm birth. [source] Maternal and neonatal outcomes in 54 triplet pregnancies managed in an Australian tertiary centreAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2004Andrea BARKEHALL-THOMAS Abstract Background:, To provide current data on maternal and neonatal outcomes in triplet pregnancies in an Australian population. Methods:, Retrospective case note review of all triplet pregnancies managed within a single Australian tertiary centre. Results:, Fifty-four sets of triplets were managed from January 1996 to October 2002. A total of 59% resulted from the use of assisted reproductive technologies. The median gestation at delivery was 32.5 weeks (range: 21,36 weeks); 14% delivered prior to 28 weeks and 43% delivered before 32 weeks. Preterm labour and preterm rupture of membranes were the most common antenatal complications occurring in 57 and 22% of pregnancies, respectively. A total of 93% of pregnancies were delivered by Caesarean section and 37% of mothers experienced at least one post-partum complication. A total of 96% of neonates were liveborn, with a median birthweight of 1644 g (range: 165,2888 g). The two most common neonatal complications were jaundice and hypoglycaemia in 52 and 43% of liveborn neonates, respectively. A total of 28% of neonates were below the 10th centile for gestational age and sex. A total of 8% of neonates demonstrated congenital anomalies. The perinatal mortality at a gestational age of 20,24 weeks was 100%, 22% at 25,28 weeks and zero for those babies born at 29 weeks or beyond. Conclusion:, Assisted reproductive technologies contribute significantly to the incidence of triplet pregnancies. Gestational age at delivery and perinatal mortality is comparable to published international data. Triplets born in a tertiary centre beyond 28 weeks gestation have a very favourable prognosis in the newborn period. [source] The relationship between dietary supplement use in late pregnancy and birth outcomes: a cohort study in British womenBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 7 2010NA Alwan Please cite this paper as: Alwan N, Greenwood D, Simpson N, McArdle H, Cade J. The relationship between dietary supplement use in late pregnancy and birth outcomes: a cohort study in British women. BJOG 2010;117:821,829. Objective, To examine the relationship between dietary supplement use during pregnancy and birth outcomes. Design, A prospective birth cohort. Setting, Leeds, UK. Sample, One thousand two hundred and seventy-four pregnant women aged 18,45 years. Methods, Dietary supplement intake was ascertained using three questionnaires for the first, second and third trimesters. Dietary intake was reported in a 24-hour dietary recall administered by a research midwife at 8,12 weeks of gestation. Information on delivery details and antenatal pregnancy complications was obtained from the hospital maternity records. Main outcome measures, Birthweight, birth centile and preterm birth. Results, Reported dietary supplement use declined from 82% of women in the first trimester of pregnancy to 22% in the second trimester and 33% in the third trimester. Folic acid was the most commonly reported supplement taken. Taking any type of daily supplement during any trimester was not significantly associated with size at birth taking into account known relevant confounders. Women taking multivitamin-mineral supplements in the third trimester were more likely to experience preterm birth (adjusted OR = 3.4, 95% CI 1.2, 9.6, P = 0.02). Conclusions, Regular multivitamin,mineral supplement use during pregnancy, in a developed country setting, is not associated with size at birth. However, it appears to be associated with preterm birth if taken daily in the third trimester. The mechanism for this is unclear and our study's findings need confirming by other cohorts and/or trials in developed countries. [source] Tetralogy of Fallot: maternal and neonatal outcomesBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 3 2008E Gelson We performed a retrospective cohort study of 26 pregnancies in 16 women with repaired tetralogy of Fallot (rTOF) delivering at the Chelsea and Westminster Hospital and compared them with 104 controls. The rate of antenatal complications was significantly higher in the rTOF group (30 cf. 13%). Use of epidural anaesthesia was higher (67 cf. 25%) in the rTOF group compared with controls, and the length of the second stage was shorter in both spontaneous and assisted deliveries. However, the mode of delivery and neonatal outcomes were similar in both groups. Mean birthweight centile was lower in the tetralogy of Fallot group, 26 versus 58 in the control group (P = 0.000001, Wilcoxon rank sum test). All women whose babies were <10th centile weight for gestational age had moderate to severe pulmonary regurgitation. [source] Cystatin-C and beta trace protein as markers of renal function in pregnancyBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 5 2005Ayub Akbari Objective To assess the validity of Cystatin-C (Cys-C) and beta trace protein (BTP) as clinical markers of glomerular filtration rate (GFR) in pregnant women. Design Prospective cross sectional study. Setting Obstetric unit of a tertiary care hospital. Population One hundred and thirty-seven normal pregnant women and 13 women postpartum. Methods Twenty-four hour creatinine clearance (CrCl), serum creatinine, Cys-C and BTP concentrations were measured on normal pregnant women in the first trimester (n= 5), second trimester (n= 68) and third trimester (n= 64) and in 13 women postpartum. Data are given as median (2.5th centile, 97.5th centile). Main outcome measures Serum concentrations of Cys-C and BTP compared with creatinine clearance and serum creatinine. Results The median serum creatinine throughout gestation was 53 ,mol/L (39, 71), and median CrCl was 143 mL/minute (91 to 216). Postpartum, creatinine rose to 74 ,mol/L (58, 86) and CrCl decreased to 104 mL/minute (71, 159). For Cys-C, the median concentration was 0.70 mg/L (0.46, 1.32), and 0.54 mg/L (0.36, 0.96) for BTP. Comparing the second and third trimesters, there was no significant difference between CrCl (median 145 vs 141 mL/minute) and BTP concentrations (median 0.51 vs 0.55 mg/L), while median Cys-C was significantly higher in the third trimester (0.61 vs 0.88 mg/L; P < 0.001). Unlike creatinine and BTP, Cys-C levels decreased to 0.72 mg/L (0.57, 0.95) postpartum. The only significant relationship of either of these markers to the standard used for GFR was between Cys-C and CrCl in the third trimester, and the correlation was weak (r= 0.27 for 1/Cys-C vs CrCl). Conclusion These data demonstrate that despite claims to the contrary, Cys-C is a poor marker of GFR during pregnancy. Similarly, BTP shows little promise. [source] | |||||||||||||||||||||||||||||||