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Normal Outcome (normal + outcome)
Selected AbstractsOutcome of severe unilateral cerebellar hypoplasiaDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 8 2010ANDREA PORETTI Aim, Complete or subtotal absence of one cerebellar hemisphere is exceptional; only single cases have been described. We aimed to assess the long-term outcome in children with severe unilateral cerebellar hypoplasia (UCH). Method, As part of a retrospective study we describe neuroimaging features, clinical findings, and cognitive outcomes of seven children with UCH (five males, two females; age at first magnetic resonance imaging [MRI]: median 1y 3mo, range 9d,8y 10mo; age at latest follow-up: median 6y 6mo, range 2y 3mo,14y 11mo). Results, One child had abnormalities on prenatal MRI at 21 weeks' gestation. The left cerebellar hemisphere was affected in five children, and the right hemisphere in two children. The vermis was involved in five children. The volume of the posterior fossa was variable. At the latest follow-up, neurological findings included truncal ataxia and muscular hypotonia in five children, limb ataxia in three patients, and head nodding in two patients. Three children had learning disability*, five had speech and language disorders, and one had a severe behavioural disorder. Interpretation, Severe UCH is a residual change after a disruptive prenatal cerebellar insult, most likely haemorrhagic. The outcome is variable, ranging from almost normal development to marked developmental impairment. Ataxia is a frequent but not a leading sign. It seems that involvement of the cerebellar vermis is often, but not consistently, associated with a poorer cognitive outcome, whereas an intact vermis is associated with normal outcome and no truncal ataxia. [source] Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese familiesPRENATAL DIAGNOSIS, Issue 6 2007Li Hongyi Abstract Objective The prenatal genetic diagnosis and counseling of oculocutaneous albinism type II (OCA2) by detecting mutations in the OCA2 gene Methods DNA samples were extracted from peripheral whole blood and amniocentesis-derived cells. Polymerase chain reaction and automatic sequence analysis were used to screen the OCA2 gene. Results Case 1: Two novel heterozygous mutations (p.N476D and p.Y827H) in the P gene were detected in the proband. Molecular prenatal diagnosis on fetal DNA revealed N476D. The pregnancy progressed uneventfully to a normal outcome. Case 2: Mutation analysis of the DNA of family 2 revealed compound heterozygosities for two novel P gene mutations (p.N476D and p.G775R). The pregnant female and the fetus each presented with a single P gene mutation (p.V443I and G775R, respectively). The pregnancy was continued. Conclusion This is the first report of prenatal diagnosis performed in families with oculocutaneous albinism type II (OCA2). Also, this report reveals three novel mutations of the P gene. Copyright © 2007 John Wiley & Sons, Ltd. [source] Pregnancy and postnatal outcome of mosaic isochromosome 20qPRENATAL DIAGNOSIS, Issue 2 2007W. P. Robinson Abstract Prenatally diagnosed mosaicism for isochromosome 20q is generally reported in association with a normal outcome at birth and is rarely confirmed postnatally. However, the origin of these abnormal cells is unclear and there are few reports of long-term outcomes. We present an additional case of prenatally detected isochromosome 20q, with normal outcome up to age 3.6 years. The abnormal cells, while present at high levels in the amniotic fluid, could not be confirmed in placenta or fetal blood. Nonetheless, based on a review of the literature, the level of isochromosome 20q cells found is associated with risk of abnormal outcome, suggesting a possible effect in some cases. Copyright © 2006 John Wiley & Sons, Ltd. [source] Fetal supraventricular tachycardia: a role for amiodarone as second-line therapy?PRENATAL DIAGNOSIS, Issue 2 2003Jean-Marie Jouannic Abstract Objective The aim of this study was to evaluate the role of amiodarone for the prenatal treatment of hydropic fetuses with supraventricular tachycardia. Methods A group of 26 hydropic fetuses with supraventricular tachycardia was studied retrospectively. Results Twenty-five fetuses received transplacental treatment. The overall prenatal conversion rate was 60%. Nine fetuses were converted to sinus rhythm using either flecainide (n = 7) or amiodarone (n = 2) as first line therapy, whilst digoxin alone or in association with sotalol failed to restore sinus rhythm in all cases. After first-line therapy, supraventricular tachycardia persisted in 10 fetuses. Nine fetuses received amiodarone alone or in association with digoxin as second-line therapy, five of whom were converted to sinus rhythm. Among the 11 live neonates treated by amiodarone in utero, 2 (17%) presented an elevated thyroid stimulating hormone at day 3,4. These two infants received thyroid hormone substitution therapy and had a normal outcome. Conclusion When first-line therapy fails to restore sinus rhythm in hydropic fetuses with supraventricular tachycardia, amiodarone therapy should be considered as it allows a substantial number of fetuses to be converted prenatally. Copyright © 2003 John Wiley & Sons, Ltd. [source] Host plant effects on the development and survivorship of the galling insect Neopelma baccharidis (Homoptera: Psyllidae)AUSTRAL ECOLOGY, Issue 3 2002M. M. Espírito-Santo Abstract In this study, the mortality factors acting upon the galling psyllid Neopelma baccharidis Burckhardt (Homoptera) caused by its host plant, Baccharis dracunculifolia De Candole (Asteraceae) were analysed. In March 1999, 982 galls of the same cohort were randomly marked on 109 individuals of B. dracunculifolia in the field. Galls were censused each month during their development, from April to August, and dead galls were collected and analysed for mortality factors. Gall dehiscence rates were calculated for each month. The major mortality source of N. baccharidis was gall dropping (13.2% of the original cohort), which is probably a normal outcome of previous mortality caused by the other factors observed in this study. Unknown factors killed 11.7% of this gall population and were ascribed to plant resistance during gall development. Empty galls represented 7.7% of the observed mortality and may be a consequence of egg retention or egg mortality/abortion related to variations in plant quality. Shoot mortality was high during the dry season and killed 7.5% of the galls, but this impact was minimized after the third month from gall formation due to the ability of nymphs to accelerate development and emerge from galls on dying shoots. However, the size of dehisced galls on dead shoots tended to be smaller, possibly affecting adult performance. Mortality of N. baccharidis attributed to B. dracunculifolia strongly controlled the galling insect population, killing 40.7% of the original cohort of galls. Plant-mediated mortality was caused by often neglected factors acting predominantly during the first 3 months of development, which are critical to gall survivorship. These results reinforce the importance of bottom-up forces in plant-insect systems. [source] Perinatal outcome in fetuses with extremely large nuchal translucency measurementAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2009Fergus SCOTT Background: Studies have suggested that an entirely normal outcome is likely when the nuchal translucency (NT) measurement is very large and the karyotype, morphology and echocardiography scans are normal. Recently this has been questioned as it is based on very small numbers. Aim: Assess the outcome of pregnancies with an NT measurement of 6.5 mm or greater. Methods: Audit of a large first trimester screening program. Results: Over the ten years to 2006, 76 813 patients underwent first trimester screening, with 120 having an extremely large NT. Thirty-one cases had normal karyotypes, of which there were four sets of twins that demised. Six cases miscarried and ten were terminated, some with morphological abnormalities. Eight cases were still alive for the morphology scan, with the only abnormality being mild pyelectasis in one case. At birth, three cases were normal and another three cases had a good outcome. Two cases had coarctation of the aorta and a good outcome. One case had Noonan's syndrome, another had cerebral palsy and the case with pyelectasis had hydronephrosis, dilated ureters and some contractures. Conclusions: When the karyotype and morphology scan are normal, the outcome is often good in spite of an extremely large NT. However, even a subtle ultrasound anomaly can indicate a genetic syndrome and echocardiography cannot exclude mild cardiac abnormalities. [source] First trimester maternal serum free , human chorionic gonadotrophin and pregnancy associated plasma protein A as predictors of pregnancy complicationsBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 10 2000Charas Y. T. Ong Research Fellow (Fetal Medicine) Objective To examine the value of first trimester maternal serum free , human chorionic gonadotrophin (, hCG) and pregnancy associated plasma protein A (PAPP-A) as predictors of pregnancy complications. Design Screening study. Setting Antenatal clinics. Population Singleton pregnancies at 10,14 weeks of gestation. Methods Maternal serum free , hCG and PAPP-A were measured at 10,14 weeks of gestation in 5584 singleton pregnancies. In the 5297 (94.9%) pregnancies with complete follow up free , hCG and PAPP-A were compared between those with normal outcome and those resulting in miscarriage, spontaneous preterm delivery, pregnancy induced hypertension or fetal growth restriction and in those with pre-existing or gestational diabetes. Results Maternal serum PAPP-A increased and , hCG decreased with gestation. The multiple of median maternal serum PAPP-A was significantly lower in those pregnancies resulting in miscarriage, pregnancy induced hypertension, growth restriction and in those with pre-existing or gestational diabetes mellitus, but not in those complicated by spontaneous preterm delivery. The level was < 10th centile of the reference range in about 20% of the pregnancies that subsequently resulted in miscarriage or developed pregnancy induced hypertension or growth restriction, and in 27% of those that developed gestational diabetes. Maternal serum free , hCG was < 10th centile of the reference range in about 15% of the pregnancies that subsequently resulted in miscarriage or developed pregnancy induced hypertension or growth restriction, and in 20% of those that developed gestational diabetes. Conclusion Low maternal serum PAPP-A or , hCG at 10,14 weeks of gestation are associated with subsequent development of pregnancy complications. [source] Likelihood Methods for Treatment Noncompliance and Subsequent Nonresponse in Randomized TrialsBIOMETRICS, Issue 2 2005A. James O'Malley Summary While several new methods that account for noncompliance or missing data in randomized trials have been proposed, the dual effects of noncompliance and nonresponse are rarely dealt with simultaneously. We construct a maximum likelihood estimator (MLE) of the causal effect of treatment assignment for a two-armed randomized trial assuming all-or-none treatment noncompliance and allowing for subsequent nonresponse. The EM algorithm is used for parameter estimation. Our likelihood procedure relies on a latent compliance state covariate that describes the behavior of a subject under all possible treatment assignments and characterizes the missing data mechanism as in Frangakis and Rubin (1999, Biometrika86, 365,379). Using simulated data, we show that the MLE for normal outcomes compares favorably to the method-of-moments (MOM) and the standard intention-to-treat (ITT) estimators under (1) both normal and nonnormal data, and (2) departures from the latent ignorability and compound exclusion restriction assumptions. We illustrate methods using data from a trial to compare the efficacy of two antipsychotics for adults with refractory schizophrenia. [source] | |||||||||||||