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Sample records for neurological birth defects

  1. Birth Defects (For Parents)

    Science.gov (United States)

    ... mother has certain infections (such as toxoplasmosis ) during pregnancy, her baby can have a birth defect. Other conditions that cause defects include rubella and chickenpox (varicella). Fortunately, many people get vaccinated ...

  2. Birth Defects Data and Statistics

    Science.gov (United States)

    ... Submit" /> Information For… Media Policy Makers Data & Statistics Recommend on Facebook Tweet Share Compartir On This ... and critical. Read below for the latest national statistics on the occurrence of birth defects in the ...

  3. Birth defects surveillance·

    African Journals Online (AJOL)

    1989-07-01

    Jul 1, 1989 ... number of population- and hospital-based birth defect surveil- lance systems in operation throughout the ... on the PMNS summary sheet are classified according to anatomical systems rather than specific ... taxonomy; they were then coded in the Department of Com- munity Health. The coding system used ...

  4. March of Dimes Birth Defects Foundation

    Science.gov (United States)

    ... premature birth The newborn intensive care unit (NICU) Birth defects & other health conditions Loss & grief Tools & Resources Frequently asked health questions Ask our health experts Calculating your due date Ovulation calendar Order bereavement materials News Moms Need Blog News & Media ...

  5. When Your Baby Has a Birth Defect

    Science.gov (United States)

    ... bifida, and lung problems. These procedures can be controversial, though, because they sometimes cause premature labor. And ... Teens For Kids For Parents MORE ON THIS TOPIC Birth Defects Congenital Heart Defects Cleft Lip and ...

  6. Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study.

    NARCIS (Netherlands)

    Desrosiers, T.A.; Herring, A.H.; Shapira, S.K.; Hooiveld, M.; Luben, T.J.; Herdt-Losavio, M.L.; Lin, S.; Olshan, A.F.

    2012-01-01

    Objectives: Several epidemiological studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, the authors investigated the association between paternal occupation

  7. Birth defects in children with newborn encephalopathy

    NARCIS (Netherlands)

    Felix, JF; Badawi, N; Kurinczuk, JJ; Bower, C; Keogh, JM; Pemberton, PJ

    2000-01-01

    This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association

  8. Agricultural Compounds in Water and Birth Defects.

    Science.gov (United States)

    Brender, Jean D; Weyer, Peter J

    2016-06-01

    Agricultural compounds have been detected in drinking water, some of which are teratogens in animal models. The most commonly detected agricultural compounds in drinking water include nitrate, atrazine, and desethylatrazine. Arsenic can also be an agricultural contaminant, although arsenic often originates from geologic sources. Nitrate has been the most studied agricultural compound in relation to prenatal exposure and birth defects. In several case-control studies published since 2000, women giving birth to babies with neural tube defects, oral clefts, and limb deficiencies were more likely than control mothers to be exposed to higher concentrations of drinking water nitrate during pregnancy. Higher concentrations of atrazine in drinking water have been associated with abdominal defects, gastroschisis, and other defects. Elevated arsenic in drinking water has also been associated with birth defects. Since these compounds often occur as mixtures, it is suggested that future research focus on the impact of mixtures, such as nitrate and atrazine, on birth defects.

  9. Birth Defects Research and Tracking

    Science.gov (United States)

    ... Network provides the prevalence of these defects and publishes updated data every year. The Tracking Network’s Data ... type="submit" value="Submit" /> Information For… Media Policy Makers File Formats Help: How do I view ...

  10. Screening Tests for Birth Defects

    Science.gov (United States)

    ... Rate Combined first-trimester screening Blood test for PAPP-A and hCG, plus an ultrasound exam Down syndrome ... tube defects 81% Integrated screening Blood test for PAPP-A and an ultrasound exam in the first trimester, ...

  11. Maternal autoimmune disease and birth defects in the National Birth Defects Prevention Study.

    Science.gov (United States)

    Howley, Meredith M; Browne, Marilyn L; Van Zutphen, Alissa R; Richardson, Sandra D; Blossom, Sarah J; Broussard, Cheryl S; Carmichael, Suzan L; Druschel, Charlotte M

    2016-11-01

    Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases. Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95-11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37-24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16-7.80). Our findings suggest maternal autoimmune disease and treatment are not associated with the majority of birth defects, but may be associated with some defects, particularly encephalocele. Given the low prevalence of individual autoimmune diseases and the rare use of specific medications, we were unable to examine associations of specific autoimmune diseases and medications with birth defects. Other studies are needed to confirm these findings. Birth Defects Research (Part A) 106:950-962, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. Fluconazole use and birth defects in the National Birth Defects Prevention Study.

    Science.gov (United States)

    Howley, Meredith M; Carter, Tonia C; Browne, Marilyn L; Romitti, Paul A; Cunniff, Christopher M; Druschel, Charlotte M

    2016-05-01

    Low-dose fluconazole is used commonly to treat vulvovaginal candidiasis, a condition occurring frequently during pregnancy. Conflicting information exists on the association between low-dose fluconazole use among pregnant women and the risk of major birth defects. We used data from the National Birth Defects Prevention Study to examine this association. The National Birth Defects Prevention Study is a multisite, population-based, case-control study that includes pregnancies with estimated delivery dates from 1997 to 2011. Information on fluconazole use in early pregnancy was collected by self-report from 31,645 mothers of birth defect cases and 11,612 mothers of unaffected controls. Adjusted odds ratios and 95% confidence intervals were estimated for birth defects with 5 or more exposed cases; crude odds ratios and exact 95% confidence intervals were estimated for birth defects with 3-4 exposed cases. Of the 43,257 mothers analyzed, 44 case mothers and 6 control mothers reported using fluconazole. Six exposed infants had cleft lip with cleft palate, 4 had an atrial septal defect, and each of the following defects had 3 exposed cases: hypospadias, tetralogy of Fallot, d-transposition of the great arteries, and pulmonary valve stenosis. Fluconazole use was associated with cleft lip with cleft palate (odds ratio = 5.53; confidence interval = 1.68-18.24) and d-transposition of the great arteries (odds ratio = 7.56; confidence interval = 1.22-35.45). The associations between fluconazole and both cleft lip with cleft palate and d-transposition of the great arteries are consistent with earlier published case reports but not recent epidemiologic studies. Despite the larger sample size of the National Birth Defects Prevention Study, fluconazole use was rare. Further investigation is needed in large studies, with particular emphasis on oral clefts and conotruncal heart defects. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. A population-based study of birth defects in Malaysia.

    Science.gov (United States)

    Thong, M K; Ho, J J; Khatijah, N N

    2005-01-01

    Birth defects are one of the leading causes of paediatric disability and mortality in developed and developing countries. Data on birth defects from population-based studies originating from developing countries are lacking. One of the objectives of this study was to determine the epidemiology of major birth defects in births during the perinatal period in Kinta district, Perak, Malaysia over a 14-month period, using a population-based birth defect register. There were 253 babies with major birth defects in 17,720 births, giving an incidence of 14.3/1000 births, a birth prevalence of 1 in 70. There were 80 babies with multiple birth defects and 173 with isolated birth defects. The exact syndromic diagnosis of the babies with multiple birth defects could not be identified in 18 (22.5%) babies. The main organ systems involved in the isolated birth defects were cardiovascular (13.8%), cleft lip and palate (11.9%), clubfeet (9.1%), central nervous system (CNS) (including neural tube defects) (7.9%), musculoskeletal (5.5%) and gastrointestinal systems (4.7%), and hydrops fetalis (4.3%). The babies with major birth defects were associated with lower birth weights, premature deliveries, higher Caesarean section rates, prolonged hospitalization and increased specialist care. Among the cohort of babies with major birth defects, the mortality rate was 25.2% during the perinatal period. Mothers with affected babies were associated with advanced maternal age, birth defects themselves or their relatives but not in their other offspring, and significantly higher rates of previous abortions. The consanguinity rate of 2.4% was twice that of the control population. It is concluded that a birth defects register is needed to monitor these developments and future interventional trials are needed to reduce birth defects in Malaysia.

  14. Maternal occupation and the risk of birth defects: an overview from the National Birth Defects Prevention Study.

    NARCIS (Netherlands)

    Herdt-Losavio, M.L.; Lin, S.; Chapman, B.R.; Hooiveld, M.; Olshan, A.; Liu, X.; DePersis, R.D.; Zhu, J.; Druschel, C.M.

    2010-01-01

    OBJECTIVES: To examine the association between a spectrum of 24 maternal occupations and 45 birth defects for hypothesis generating purposes. METHODS: Cases of isolated and multiple birth defects (n = 8977) and all non-malformed live-born control births (n = 3833) included in the National Birth

  15. The spatial evaluation of neighborhood clusters of birth defects

    Energy Technology Data Exchange (ETDEWEB)

    Frisch, J.D.

    1990-04-16

    Spatial statistics have recently been applied in epidemiology to evaluate clusters of cancer and birth defects. Their use requires a comparison population, drawn from the population at risk for disease, that may not always be readily available. In this dissertation the plausibility of using data on all birth defects, available from birth defects registries, as a surrogate for the spatial distribution of all live births in the analysis of clusters is assessed. Three spatial statistics that have been applied in epidemiologic investigations of clusters, nearest neighbor distance, average interpoint distance, and average distance to a fixed point, were evaluated by computer simulation for their properties in a unit square, and in a zip code region. Comparison of spatial distributions of live births and birth defects was performed by drawing samples of live births and birth defects from Santa Clara County, determining the street address at birth, geocoding this address and evaluating the resultant maps using various statistical techniques. The proposed method was then demonstrated on a previously confirmed cluster of oral cleft cases. All live births for the neighborhood were geocoded, as were all birth defects. Evaluation of this cluster using the nearest neighbor and average interpoint distance statistics was performed using randomization techniques with both the live births population and the birth defect population as comparison groups. 113 refs., 36 figs., 16 tabs.

  16. Asphyxia, Neurologic Morbidity, and Perinatal Mortality in Early-Term and Postterm Birth.

    Science.gov (United States)

    Seikku, Laura; Gissler, Mika; Andersson, Sture; Rahkonen, Petri; Stefanovic, Vedran; Tikkanen, Minna; Paavonen, Jorma; Rahkonen, Leena

    2016-06-01

    Neonatal outcomes vary by gestational age. We evaluated the association of early-term, full-term, and postterm birth with asphyxia, neurologic morbidity, and perinatal mortality. Our register-based study used retrospective data on 214 465 early-term (37(+0)-38(+6) gestational weeks), 859 827 full-term (39(+0)-41(+6)), and 55 189 postterm (≥42(+0)) live-born singletons during 1989-2008 in Finland. Asphyxia parameters were umbilical cord pH and Apgar score at 1 and 5 minutes. Neurologic morbidity outcome measures were cerebral palsy (CP), epilepsy, intellectual disability, and sensorineural defects diagnosed by the age of 4 years. Newborns with major congenital anomalies were excluded from perinatal deaths. Multivariate analysis showed that, compared with full-term pregnancies, early-term birth increased the risk for low Apgar score (Postterm birth increased the risk for low Apgar score (postterm births, but general neurologic morbidity and perinatal mortality were not increased. Copyright © 2016 by the American Academy of Pediatrics.

  17. Beating Birth Defects (A Cup of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    2013-01-17

    Each year in the U.S., one in 33 babies is affected by a major birth defect. Women can greatly improve their chances of giving birth to a healthy baby by avoiding some of the risk factors for birth defects before and during pregnancy. In this podcast, Dr. Stuart Shapira discusses ways to improve the chances of giving birth to a healthy baby.  Created: 1/17/2013 by MMWR.   Date Released: 1/17/2013.

  18. STUDY OF BIRTH DEFECTS IN A TERTIARY CARE CENTRE

    Directory of Open Access Journals (Sweden)

    Subhra Ghosh

    2016-11-01

    Full Text Available BACKGROUND Birth defects are responsible for increased perinatal mortality and long-term morbidities. To reduce its incidence, which is the need of the hour we should know more about them and possible risk factors, which can be prevented. The aim of the study is to study the overall frequency of birth defects in a tertiary hospital and search for association with certain risk factors. MATERIALS AND METHODS All newborns/stillborns with birth defects during one year were enrolled for the study. Similar number of newborns without birth defect during this period was taken as control. Relevant information was documented in both the groups and analysed. RESULTS Out of 11,008 births, congenital anomaly was found in 130 cases. The prevalence of birth defects was 1.18 percent. Association of occurrence of birth defects with increased paternal age, consanguinity, fever and drug intake in first trimester was found. 57.6% of the newborns with birth defects were stillborn, born at an earlier gestational age (33.6 week v/s. 37.5 weeks. Commonest system to be affected was CNS (49.2%. CONCLUSION Screening for aneuploidy and birth defects should be universal. Routine folic acid supplementation and pregnancy termination of malformed babies will reduce the incidences.

  19. Birth Defects in the Newborn Population: Race and Ethnicity

    Directory of Open Access Journals (Sweden)

    Alexander C. Egbe

    2015-06-01

    Conclusion: This is a comprehensive description of racial differences in the risk of birth defects in the United States. Observed racial differences in the risk of birth defects may be related to genetic susceptibilities, to cultural or social differences that could modify exposures, or to the many potential combinations between susceptibilities and exposures.

  20. Factors associated with major structural birth defects among ...

    African Journals Online (AJOL)

    ebutamanya

    2015-02-18

    Feb 18, 2015 ... Christianson A, Howson CP, Modell B. March of Dimes Global. Report on Birth Defects, '' The Hidden Toll of Dying and. Disabled Children? 2006. New York. Google Scholar. 3. WHO, Joint WHO-March of Dimes meeting on the management of birth defects and haemoglobin disorders. 2006. Geneva.

  1. Severity of Birth Defects After Propylthiouracil Exposure in Early Pregnancy

    Science.gov (United States)

    Olsen, Jørn; Wu, Chun Sen; Laurberg, Peter

    2014-01-01

    Background: Propylthiouracil (PTU) used in the treatment of maternal hyperthyroidism in early pregnancy may be associated with a higher prevalence of birth defects in the face and neck region and in the urinary system but the severity of these complications remains to be elucidated. Methods: Review of hospital-registered cases of birth defects in the face and neck region and in the urinary system after PTU exposure in early pregnancy. We obtained information on maternal redeemed prescription of PTU and child diagnosis of birth defect from nationwide registers for all children born in Denmark between 1996 and 2008 (n=817,093). The children were followed until December 31, 2010 (median age, 8.3 years) and the Cox proportional hazards model was used to estimate adjusted hazard ratio (HR) with 95% confidence interval (CI) for having a birth defect after PTU exposure versus nonexposed children (n=811,730). Results: Fourteen cases of birth defects were identified in the face and neck region and in the urinary system after PTU exposure in early pregnancy; 11 children were exposed to PTU only (n=564), whereas 3 children were born to mothers who switched from methimazole (MMI)/carbimazole (CMZ) to PTU in early pregnancy (n=159). Among children exposed to PTU only, the adjusted HR for having a birth defect in the face and neck region was 4.92 (95% CI 2.04–11.86) and in the urinary system 2.73 (1.22–6.07). Looking into details of the 14 cases, 7 children were diagnosed with a birth defect in the face and neck region (preauricular and branchial sinus/fistula/cyst) and 7 children had a birth defect in the urinary system (single cyst of kidney and hydronephrosis). Surgical treatment was registered in 6 of the cases with a birth defect in the face and neck region and 3 of the cases with a birth defect in the urinary system. Two of the children with a birth defect in the urinary system also had other birth defects (genital organs). Conclusions: We report details on possible

  2. Birth Defects in India: Magnitude, Public Health Impact and Prevention

    Directory of Open Access Journals (Sweden)

    Anita Kar

    2014-07-01

    Full Text Available Birth defects refer to a group of diverse congenital conditions, which are responsible for stillbirths, neonatal deaths, chronic medical conditions and disability. Due to their low prevalence and high mortality, birth defects are not considered to be a significant health problem in India. Various data however identify that India may harbour a significant burden of birth defects, and that these conditions may be responsible for a considerable proportion of neonatal deaths in India. Although it is widely assumed that survival of patients with birth defects is low, data suggests that in 2002, there were nearly six million Indians living with impairments arising at birth. These data urge the need for implementation of a national birth defects programme in India, with a strong component of prevention. The need for significant research investments to understand the epidemiology and public health impact of birth defects in India is identified. Translation research, transcending the disciplines of medicine, public health and genetics is required to develop a low cost birth defects service as a component of the existing maternal and child health programme.

  3. Dietary Glycemic Index and the Risk of Birth Defects

    Science.gov (United States)

    Parker, Samantha E.; Werler, Martha M.; Shaw, Gary M.; Anderka, Marlene; Yazdy, Mahsa M.

    2012-01-01

    Prepregnancy diabetes and obesity have been identified as independent risk factors for several birth defects, providing support for a mechanism that involves hyperglycemia and hyperinsulinemia in the development of malformations. Data from the National Birth Defects Prevention Study from 1997 to 2007 were used to investigate the association between the maternal dietary glycemic index (DGI) and the risk of birth defects among nondiabetic women. DGI was categorized by using spline regression models and quartile distributions. Adjusted odds ratios and 95% confidence intervals were calculated. The joint effect of DGI and obesity was also examined. Among the 53 birth defects analyzed, high DGI, categorized by spline regression, was significantly associated with encephalocele (adjusted odds ratio (aOR) = 2.68), diaphragmatic hernia (aOR = 2.58), small intestinal atresia/stenosis (aOR = 2.97) including duodenal atresia/stenosis (aOR = 2.48), and atrial septal defect (aOR = 1.37). Using quartiles to categorize DGI, the authors identified associations with cleft lip with cleft palate (aOR = 1.23) and anorectal atresia/stenosis (aOR = 1.40). The joint effect of high DGI and obesity provided evidence of a synergistic effect on the risk of selected birth defects. High DGI is associated with an increased risk of a number of birth defects under study. Obesity coupled with high DGI appears to increase the risk further for some birth defects. PMID:23171874

  4. Ambient Air Pollution and Birth Defects in Brisbane, Australia

    Science.gov (United States)

    Hansen, Craig A.; Barnett, Adrian G.; Jalaludin, Bin B.; Morgan, Geoffrey G.

    2009-01-01

    Background Birth defects are a major public health concern as they are the leading cause of neonatal and infant mortality. Observational studies have linked environmental pollution to adverse birth outcomes, including congenital anomalies. This study examined potential associations between ambient air pollution and congenital heart defects and cleft lip or palate among births in Brisbane, Australia (1998–2004). Methods Ambient air pollution levels were averaged over weeks 3–8 of pregnancy among 150,308 births. Using a case–control design, we used conditional logistic regression and matched cases to 5 controls. Analyses were conducted using all births, and then births where the mother resided within 6 and 12 kilometers of an ambient air quality monitor. Findings When analyzing all births there was no indication that ambient air pollution in Brisbane was associated with a higher risk of cardiac defects. Among births where the mother resided within 6 kilometers of an ambient air quality monitor, a 5 ppb increase in O3 was associated with an increased risk of pulmonary artery and valve defects (OR 2.96, 95% CI: 1.34, 7.52) while a 0.6 ppb increase in SO2 was associated with an increased risk of aortic artery and valve defects (OR 10.76, 95% CI: 1.50, 179.8). For oral cleft defects among all births, the only adverse association was between SO2 and cleft lip with or without cleft palate (OR 1.27, 95% CI: 1.01, 1.62). However, various significant inverse associations were also found between air pollutants and birth defects. Conclusions This study found mixed results and it is difficult to conclude whether ambient air pollution in Brisbane has an adverse association with the birth defects examined. Studies using more detailed estimates of air pollution exposure are needed. PMID:19404385

  5. Seasonality in birth defects, agricultural production and urban location.

    Science.gov (United States)

    McKinnish, Terra; Rees, Daniel I; Langlois, Peter H

    2014-12-01

    This paper tests whether the strength of the "spring spike" in birth defects is related to agricultural production and urban location using Texas Birth Defects Registry data for the period 1996-2007. We find evidence of a spike in birth defects among children conceived in the spring and summer, but it is more pronounced in urban non-agricultural counties than in other types of counties. Furthermore, the spike lasts longer in urban non-agricultural counties as compared to other types of counties. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. National Birth Defects Prevention Study (NBDPS)

    Science.gov (United States)

    ... common among mothers of babies born with certain types of congenital heart defects (CHDs). More research is needed to learn what ... known as CCHD. CCHDs are the most serious types of congenital heart defects (CHDs). CCHDs often lead to low levels of ...

  7. Microcephaly and Other Birth Defects: Zika

    Science.gov (United States)

    ... Funding CDC Activities For Healthcare Providers Clinical Evaluation & Disease Sexual Transmission HIV Infection & Zika Virus Testing for Zika Test Specimens – At Time of Birth Diagnostic Tests Understanding Zika Virus Test Results ...

  8. Incidence and Determinants of Birth Defects and Enzyme Deficiencies among Live Births in Oman

    Science.gov (United States)

    Khandekar, Rajiv; Jaffer, Yasmin

    2010-01-01

    Objectives In 2003, the Omani Ministry of Health Child Health Care Program initiated a national Birth Defects (BD) Register. This paper reviews the magnitude and risk factors of birth defects in children born and registered in 2005 using data from the BD Register. Methods Pediatricians and neonatologists examined children with BDs found either during screening at birth or when attending clinics in their first year of their life. Clinical examination, laboratory, sonographic and radiological investigations were carried out. A pre-tested form was used to note personal details, type of birth defect including International Classification of Diseases-10 (ICD-10) codes of BD and selected risk factors. The incidence rates per 100 live births were calculated. Results The annual incidence of BD in Oman was 2.53% (95% CI 2.38–2.68). Males had a significantly higher risk of BD than females (relative risk (RR) = 2.0). The regional variation of BD was also significant (χ2 = 363). The incidence of anaemia due to enzyme disorders was 1.4%. BD of urogenital organs, hands and feet and Down’s syndrome were the main types of anatomical defects. Consanguinity among parents (RR = 0.85) and low birth weight (RR = 0.28) was negatively associated to birth defects. Mothers giving birth at gestational age of Oman. PMID:21509078

  9. The Survey of Birth Defects Rate Based on Birth Registration System

    Directory of Open Access Journals (Sweden)

    Min Yu

    2015-01-01

    Conclusions: A downward trend of birth defects was observed in Xi′an City from 2003 to 2012. NTDs significantly decreased after large-scale supplemental folic acid intervention, while the incidence rate of CHD significantly increased.

  10. Parental mental illness and fatal birth defects in a national birth cohort

    DEFF Research Database (Denmark)

    Webb, Roger; Pickles, A.R.; King-Hele, Sarah

    2007-01-01

    BACKGROUND: Few large studies describe links between maternal mental illness and risk of major birth defect in offspring. Evidence is sparser still for how effects vary between maternal diagnoses and no previous study has assessed risk with paternal illnesses.MethodA population-based birth cohort...... was created by linking Danish national registers. We identified all singleton live births during 1973-1998 (n=1.45 m), all parental psychiatric admissions from 1969 onwards, and all fatal birth defects until 1 January 1999. Linkage and case ascertainment were almost complete. Relative risks were estimated...... using Poisson regression. RESULTS: Risk of fatal birth defect was elevated in relation to history of any maternal admission and also with affective disorders specifically, although the strongest effect found was with maternal schizophrenia. The rate was more than doubled in this group compared...

  11. Maternal injuries during the periconceptional period and the risk of birth defects, National Birth Defects Prevention Study, 1997-2005.

    Science.gov (United States)

    Tinker, Sarah C; Reefhuis, Jennita; Dellinger, Ann M; Jamieson, Denise J

    2011-09-01

    Maternal injuries during pregnancy are common (∼7% prevalence). However, few studies have examined the association between maternal injuries and birth defects. The National Birth Defects Prevention Study is a population-based case-control study of birth defects in 10 U.S. states. Cases were ascertained through surveillance; controls were randomly selected from infants delivered without major birth defects in the study regions. Mothers completed a telephone interview on exposures before and during pregnancy, including injuries. We assessed associations between periconceptional (month before until the end of the third month of pregnancy) maternal injuries and birth defects. We used logistic regression to estimate adjusted odds ratios (AORs) and 95% confidence intervals (CI). Periconceptional injuries were associated with interrupted aortic arch type B [AOR = 5.2, 95% CI 1.2, 23.2]; atrioventricular septal defect [AOR = 2.2, 95% CI 1.1, 4.4]; pulmonary atresia [AOR = 3.2, 95% CI 1.6, 6.4]; tricuspid atresia [AOR = 2.8, 95% CI 1.2, 6.7]; hypoplastic left heart syndrome [AOR = 2.0, 95% CI 1.1, 3.4]; anorectal atresia/stenosis [AOR = 1.7, 95% CI 1.0, 2.7]; longitudinal limb deficiency [AOR = 2.1, 95% CI 1.1, 3.9]; and gastroschisis [AOR = 1.8, 95% CI 1.2, 2.8]. Associations with longitudinal limb deficiency, gastroschisis and hypoplastic left heart syndrome were stronger for intentional injuries. Our results suggest maternal injury during the periconceptional period, particularly those inflicted intentionally, may be associated with select birth defects. This analysis was hypothesis-generating, with many associations tested. Further research is warranted. Published 2011. This article is a US Government work and is in the public domain in the USA.

  12. Factors associated with major structural birth defects among ...

    African Journals Online (AJOL)

    A case was defined as any newborn of a Dar es salaam resident with a neural tube defect, orofacial clefts ... odds of SBD. Antimalarial use during pregnancy was associated with lower odds of SBD. Early screening of pregnant mothers for hypertension and other causes of low birth weight may reduce SBD in Dar Es Salaam.

  13. Attaining human dignity for people with birth defects: A historical ...

    African Journals Online (AJOL)

    People with birth defects have been stigmatised, marginalised and discriminated against for millennia, diminishing their human dignity and abrogating their human rights. Beginning with the United Nations Universal Declaration of Human Rights, promulgated in 1947, the circumstances in which human dignity in healthcare ...

  14. Antihistamines and birth defects: a systematic review of the literature.

    Science.gov (United States)

    Gilboa, Suzanne M; Ailes, Elizabeth C; Rai, Ramona P; Anderson, Jaynia A; Honein, Margaret A

    2014-12-01

    Approximately 10 - 15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion. Antihistamines include histamine H1-receptor and H2-receptor antagonists. This is a systematic evaluation of the peer-reviewed epidemiologic literature published through February 2014 on the association between prenatal exposure to antihistamines and birth defects. Papers addressing histamine H1- or H2-receptor antagonists are included. Papers addressing pyridoxine plus doxylamine (Bendectin in the United States, Debendox in the United Kingdom, Diclectin in Canada, Lenotan and Merbental in other countries) prior to the year 2001 were excluded post hoc because of several previously published meta-analyses and commentaries on this medication. The literature on the safety of antihistamine use during pregnancy with respect to birth defects is generally reassuring though the positive findings from a few large studies warrant corroboration in other populations. The findings in the literature are considered in light of three critical methodological issues: i) selection of appropriate study population; ii) ascertainment of antihistamine exposures; and iii) ascertainment of birth defect outcomes. Selected antihistamines have been very well studied (e.g., loratadine); others, especially H2-receptor antagonists, require additional study before an assessment of safety with respect to birth defect risk could be made.

  15. 1 in 20 Pregnant Women Infected with Zika Have Babies with Birth Defects: CDC

    Science.gov (United States)

    ... html 1 in 20 Pregnant Women Infected With Zika Have Babies With Birth Defects: CDC Report from ... in the U.S. territories who were infected with Zika during pregnancy had babies with serious birth defects, ...

  16. Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia.

    Science.gov (United States)

    Al Bu Ali, Waleed Hamad; Balaha, Magdy Hassan; Al Moghannum, Mohammed Saleh; Hashim, Ibrahim

    2011-01-01

    Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern Province of Saudi Arabia. This retrospective case control study was done from April 2006 to 2009. Children with any birth defect or metabolic errors of metabolism at birth or in the neonatology section were our sample for study. Control group was randomly selected from the cases with normal live births. Blood tests were performed for children suspected to suffer from genetic blood disorders. The principal BD as per the International Classification of Diseases-10 (ICD-10) code was also noted. Out of 38001 live births, birth defects were found in 1.14% and errors of metabolism were detected in 0.17%. The most common birth defects were craniofacial malformations. The 3-methylcrotonyl-CoA carboxylase deficiency was the most common inborn errors of metabolism. Consanguinity, rural residence and prematurity were associated with significant rise in birth defects. On the other hand, consanguinity and low birth weight were associated with significant rise in metabolic errors. First cousins consanguinity represented the most significant risk factor for birth defects and inborn errors of metabolism. High degree of inbreeding, consanguinity may exacerbate underlying recessive genetic risk factors.

  17. Birth defects monitoring in underdeveloped countries: an example from Uruguay.

    Science.gov (United States)

    Castilla, E E; Lopez-Camelo, J S; Dutra, G P; Paz, J E

    1991-01-01

    Medical authorities in developing countries are primarily interested in nutritional and infectious diseases. Therefore, activities directed to the prevention and control of low priority illnesses, such as birth defects, need to be particularly effective, simple, and economical. Monitoring of congenital anomalies is one of the preventive activities which can be efficiently performed at very low cost. Guidelines for this are given, and their application exemplified by the case of Uruguay. Uruguay has recently attained an infant mortality rate of 20/1,000, with the congenital anomalies ranking as its second cause. The government of Uruguay, through the Pan American Health Organisation/World Health Organisation (PARO/WHO) called the Estudio Colaborativo Latino Americano de Malformaciones Congenitas (ECLAMC) for advice in order to plan a program for the prevention of birth defects. The recommendations given were based on conclusions drawn from the analysis of data the ECLAMC program has been accumulating, from Uruguay and other Latin-American countries, since 1967. The case of Uruguay clearly indicates that sensible guidelines for birth defects prevention can be provided, after working with this "low priority and uninteresting" group of illnesses for more than twenty years.

  18. Consanguinity and Birth Defects in the Jerusalem Perinatal Study Cohort

    Science.gov (United States)

    Harlap, S.; Kleinhaus, K.; Perrin, M.C.; Calderon-Margalit, R.; Paltiel, O.; Deutsch, L.; Manor, O.; Tiram, E.; Yanetz, R.; Friedlander, Y.

    2008-01-01

    Background While parental consanguinity is known to increase the risk of birth defects in offspring, it is hard to quantify this risk in populations where consanguinity is prevalent. Methods To support ongoing studies of cancer and of psychiatric disease, we studied relationships of consanguinity to 1,053 major birth defects in 29,815 offspring, born in 1964–1976. To adjust for confounding variables (geographic origin, social class and hospital), we constructed logistic regression models, using GEE to take into account correlations between sibs. Odds ratios (ORs) and 95% confidence limits were estimated in comparison to a reference group of offspring with grandfathers born in different countries. Results With 10.1% of offspring having consanguineous parents, the adjusted OR for major birth defect was 1.41 (1.12–1.74). Offspring of marriages between uncles-nieces, first cousins and more distant relatives showed adjusted ORs of 2.36 (0.98–5.68), 1.59 (1.22–2.07) and 1.20 (0.89–1.59) respectively. For descendents of grandfathers born in the same country, but not known to be related, the OR was 1.05 (0.91–1.21); these showed increased risk associated with ancestries in Western Asia (1.27, 1.04–1.55, p consanguinity with poverty and low education points to the need to avoid exposure to environmental hazards in these families. PMID:18493143

  19. Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Waleed Hamad Al Bu Ali

    2011-02-01

    Full Text Available BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern Province of Saudi Arabia. METHODS: This retrospective case control study was done from April 2006 to 2009. Children with any birth defect or metabolic errors of metabolism at birth or in the neonatology section were our sample for study. Control group was randomly selected from the cases with normal live births. Blood tests were performed for children suspected to suffer from genetic blood disorders. The principal BD as per the International Classification of Diseases-10 (ICD-10 code was also noted. RESULTS: Out of 38001 live births, birth defects were found in 1.14% and errors of metabolism were detected in 0.17%. The most common birth defects were craniofacial malformations. The 3-methylcrotonyl-CoA carboxylase deficiency was the most common inborn errors of metabolism. Consanguinity, rural residence and prematurity were associated with significant rise in BDs. On the other hand, consanguinity and low birth weight were associated with significant rise in metabolic errors. CONCLUSION: First cousins consanguinity represented the most significant risk factor for birth defects and inborn errors of metabolism. High degree of inbreeding, consanguinity may exacerbate underlying recessive genetic risk factors.

  20. Epidemiologic aspects of shoulder dystocia-related neurological birth injuries.

    Science.gov (United States)

    Iffy, Leslie; Varadi, Valeria; Papp, Zoltan

    2015-04-01

    The first part of the study involved data collection for the detection of geographic variations and chronologic fluctuations in the rates of shoulder dystocia. The second part of the research evaluated head-to-body delivery times in cases of arrest of the shoulders at birth that had resulted in fetal damage during the last four decades in the USA. The study of geographic and chronologic changes in the rates of shoulder dystocia rested on reported statistics coming from the USA and 11 other countries. These data were obtained by computer search. Evaluation of head-to-body delivery times rested on 104 well-documented cases that resulted in permanent neonatal damage. Literary reports of shoulder dystocia indicate that the incidence of shoulder dystocia has increased in the USA about fourfold since the middle of the twentieth century. No comparable trend has been reported from most other countries. Study of head-to-body delivery times revealed that more than two-thirds of all injured fetuses had been extracted from the birth canal within 2 minutes. Incidents of shoulder dystocia began to escalate in the USA during the 1980s, shortly after the introduction of "active management" of the birthing process. This new technique replaced a conservative philosophy which had recommended abstinence from intervention on the part of the accoucheur. The authors consider the interventionist approach largely responsible for the exponential increase in the rates of shoulder dystocia in the USA. They recommend adherence to the traditional method of delivery on the part of obstetricians in Europe and elsewhere.

  1. Treatment of hyperthyroidism in pregnancy and birth defects.

    Science.gov (United States)

    Clementi, Maurizio; Di Gianantonio, Elena; Cassina, Matteo; Leoncini, Emanuele; Botto, Lorenzo D; Mastroiacovo, Pierpaolo

    2010-11-01

    Clinical hyperthyroidism is not uncommon in pregnancy, with a reported prevalence of 0.1 to 0.4%. The available antithyroid drugs are propylthiouracil and methimazole/carbimazole. In this report we examined the association of both drugs with congenital malformations using data from the International Clearinghouse for Birth Defects Surveillance and Research. The study used a case-affected control analysis and included 18,131 cases with malformations and reported first-trimester exposure to medication. A total of 127 subjects were born to mothers with known first-trimester antithyroid drug exposure. Among the 52 groups of malformations that were analyzed, situs inversus ± dextrocardia, isolated unilateral kidney a/dysgenesis, and cardiac outflow tract defects were associated with prenatal exposure to propylthiouracil based on three, two, and five cases, respectively. Prenatal exposure to methimazole/carbimazole was significantly associated with choanal atresia, omphalocele, and total situs inversus ± dextrocardia (P < 0.01). Further studies are required to exhaustively evaluate the associations between propylthiouracil and birth defects because of the low number, the lack of biological plausibility, and the possibility of underdiagnosis. Association between methimazole/carbimazole exposure and omphalocele and choanal atresia is consistent with previous reports and definitely suggests that these malformations could be part of a specific, even if rare, embryopathy.

  2. Fluoxetine and infantile hypertrophic pylorus stenosis : a signal from a birth defects drug exposure surveillance study

    NARCIS (Netherlands)

    Bakker, M.K.; de Walle, H.E.K.; Wilffert, B.; de Jong-van den Berg, L.T.W.

    Purpose We report an association found in a surveillance study which systematically evaluated combinations of specific birth defects and drugs used in the first trimester of pregnancy. Method The database of a population-based birth defects registry (birth years 1997-2007) was systematically

  3. Interaction between epidemiology and laboratory sciences in the study of birth defects: Design of birth defects risk factor surveillance in metropolitan Atlanta

    Energy Technology Data Exchange (ETDEWEB)

    Lynberg, M.C.; Khoury, M.J. (Dept. of Health and Human Services, Atlanta, GA (United States))

    1993-01-01

    Despite years of research, the etiology of most birth defects remains largely unknown. Interview instruments have been the major tools in the search for environmental causes of birth defects. Because of respondents' problems with recognition and recall, interviews are limited in their capacity to measure certain exposures. Laboratory scientists can have a major impact on defining markers of environmental exposure and genetic susceptibility. The Centers for Disease Control is starting a case-control study of serious birth defects on the basis of a population-based surveillance system for birth defects diagnosed during the first year of life in metropolitan Atlanta, Each year, 300 infants with selected birth defects (case subjects) and 100 population-based control subjects (infants without birth defects) will be enrolled in an ongoing study that will supplement surveillance. In addition to conducting extensive maternal interviews, we will collect blood and urine specimens from case and control subjects and their mothers for laboratory testing. Eventually, some environmental sampling may be incorporated. Particular areas of emphasis are (1) nutritional factors, specifically measuring maternal folic acid levels and other micronutrients (e.g., zinc) to explore their role in the etiology of neural tube defects, (2) substance use, specifically measuring cocaine metabolites in the blood and urine to explore their role for specific vascular disruption defects, and (3) environmental factors such as pesticides and aflatoxins, to explore their potential relationships with specific defects. In addition, a DNA bank will be maintained to evaluate the role of specific candidate genes in the etiology of birth defects. The development and testing of these methods could be useful to assess the interaction between environmental exposures and genetic susceptibility in the etiology of birth defects. 15 refs., 1 fig., 1 tab.

  4. Insights from Parents about Caring for a Child with Birth Defects

    Science.gov (United States)

    Lemacks, Jodi; Fowles, Kristin; Mateus, Amanda; Thomas, Kayte

    2013-01-01

    Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to prevent birth defects in the future. Some of the challenges parents face involve communication with healthcare professionals, quality of life issues, creating awareness and advocating for research and funding, finding resources and support, and helping teens transition to appropriate, specialized adult care. This paper addresses these issues and their sub-issues, provides examples, and makes suggestions for improvement and research. PMID:23965922

  5. Insights from Parents about Caring for a Child with Birth Defects

    Directory of Open Access Journals (Sweden)

    Amanda Mateus

    2013-08-01

    Full Text Available Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to prevent birth defects in the future. Some of the challenges parents face involve communication with healthcare professionals, quality of life issues, creating awareness and advocating for research and funding, finding resources and support, and helping teens transition to appropriate, specialized adult care. This paper addresses these issues and their sub-issues, provides examples, and makes suggestions for improvement and research.

  6. The relation between antihistamine medication during early pregnancy & birth defects

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2015-10-01

    Full Text Available Antihistamines are a group of medications which can inhibit various histaminic actions at one of two histamine receptors (H1 or H2. H1 receptor antagonists are used for the relief of allergic dermatological and nondermatological conditions. We will review classes of antihistamines (H1 antagonists and the relationship between specific antihistamines and specific birth defects. Although many findings provide reassurance about the relative safety of many antihistamine drugs and that any malformation reported is most probably caused by chance, studies are still required to assure fetal safety. As pruritus is sometimes troublesome for pregnant women topical medications like emollients should be tried first in the first trimester of pregnancy. Also pregnant women should be advised to consult their health care provider before taking any medication.

  7. Epidemiology of Birth Defects Based on a Birth Defect Surveillance System from 2005 to 2014 in Hunan Province, China.

    Directory of Open Access Journals (Sweden)

    Donghua Xie

    Full Text Available To describe the epidemiology of birth defects (BDs in perinatal infants in Hunan Province, China, between 2005 and 2014.The BD surveillance data of perinatal infants (for stillbirth, dead fetus or live birth between 28 weeks of gestation and 7 days after birth were collected from 52 registered hospitals of Hunan between 2005 and 2014. The prevalence rates of BDs with 95% confidence interval (CI and crude odds ratio (ORs were calculated to examine the associations of infant gender, maternal age, and region (urban vs rural with BDs.From 2005 to 2014, there were a total of 925413 perinatal infants of which 17753 had BDs, with the average prevalence of 191.84 per 10000 PIs (perinatal infants, showing a significant uptrend. The risks of BDs are higher in urban areas versus rural areas (OR = 1.20, in male infants versus female infants (OR = 1.19, and in mothers above age 35 versus those below age 35 (OR = 1.24. The main five types of BDs are Congenital heart defects (CHD, Other malformation of external ear (OMEE, Polydactyly, Congenital malformation of kidney (CMK, and Congenital talipes equinovarus (CTE. From 2005 to 2014, the prevalence rates (per 10000 PIs of CHD and CMK increased significantly from 22.56 to 74 (OR = 3.29, 95%CI: 2.65-4.11 and from 7.61 to 14.62 (OR = 1.92, 95%CI:1.30-2.84, respectively; the prevalence rates of congenital hydrocephalus and neural tube defects (NTDs decreased significantly from 11.8 to 5.29 (OR = 0.45, 95%CI: 0.31-0.65 and from 7.87 to 1.74 (OR = 0.22, 95%CI: 0.13-0.38, respectively.The prevalence rates of specific BDs in perinatal infants in Hunan have changed in the last decade. Urban pregnant women, male perinatal infants, and mothers above age 35 present different prevalence rates of BDs. Wider use of new diagnosis technology, improving the ability of monitoring, strengthening the publicity and education are important to reduce the prevalence of BDs.

  8. Are Children Born with Birth Defects at Increased Risk of Injuries in Early Childhood?

    Science.gov (United States)

    Rutkowski, Rachel E; Salemi, Jason L; Tanner, Jean Paul; Anjohrin, Suzanne; Cavicchia, Philip; Lake-Burger, Heather; Kirby, Russell S

    2017-09-01

    To investigate the extent to which children with birth defects experience differential likelihood of various injuries and injury-related hospitalizations in early childhood. The Florida Birth Defects Registry was used to identify infants born 2006-2010 with select birth defects. Injury matrices were used to detect injuries in inpatient, ambulatory, and emergency department admissions for each infant up to their third birthday. χ2tests were used to compare sociodemographic and perinatal characteristics of children, by presence of an injury-related hospital admission. Adjusted multivariable logistic and zero-inflated negative binomial regression models were used to investigate birth defect and injury associations and related hospital use. We observed a 21% (99% CI: 1.16-1.27) increased odds of injury in children with birth defects. All birth defect subgroups had a statistically significantly increased odds of injury (excluding chromosomal defects), with adjusted ORs ranging from 1.19 to 1.40. The combination of birth defects and injuries resulted in 40% (99% CI: 1.36-1.44) more frequent injury-related hospital visits and a 3-fold (99% CI: 2.76-2.96) increase in time spent receiving inpatient medical care. Over 30% of children with critical congenital heart defects had an injury-related hospital admission. Children born with specific birth defects are at increased likelihood of various injuries during early life. Although the magnitude of this increased likelihood varied by the mechanism by which the injury occurred, the location of the injury, and the type of birth defect, our study findings support a direct association between birth defects and injuries in early life. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Maternal residential exposure to agricultural pesticides and birth defects in a 2003 to 2005 North Carolina birth cohort.

    Science.gov (United States)

    Rappazzo, Kristen M; Warren, Joshua L; Meyer, Robert E; Herring, Amy H; Sanders, Alison P; Brownstein, Naomi C; Luben, Thomas J

    2016-04-01

    Birth defects are responsible for a large proportion of disability and infant mortality. Exposure to a variety of pesticides have been linked to increased risk of birth defects. We conducted a case-control study to estimate the associations between a residence-based metric of agricultural pesticide exposure and birth defects. We linked singleton live birth records for 2003 to 2005 from the North Carolina (NC) State Center for Health Statistics to data from the NC Birth Defects Monitoring Program. Included women had residence at delivery inside NC and infants with gestational ages from 20 to 44 weeks (n = 304,906). Pesticide exposure was assigned using a previously constructed metric, estimating total chemical exposure (pounds of active ingredient) based on crops within 500 meters of maternal residence, specific dates of pregnancy, and chemical application dates based on the planting/harvesting dates of each crop. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals for four categories of exposure (90(th) percentiles) compared with unexposed. Models were adjusted for maternal race, age at delivery, education, marital status, and smoking status. We observed elevated ORs for congenital heart defects and certain structural defects affecting the gastrointestinal, genitourinary and musculoskeletal systems (e.g., OR [95% confidence interval] [highest exposure vs. unexposed] for tracheal esophageal fistula/esophageal atresia = 1.98 [0.69, 5.66], and OR for atrial septal defects: 1.70 [1.34, 2.14]). Our results provide some evidence of associations between residential exposure to agricultural pesticides and several birth defects phenotypes. Birth Defects Research (Part A) 106:240-249, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Prenatal nitrate intake from drinking water and selected birth defects in offspring of participants in the national birth defects prevention study.

    Science.gov (United States)

    Brender, Jean D; Weyer, Peter J; Romitti, Paul A; Mohanty, Binayak P; Shinde, Mayura U; Vuong, Ann M; Sharkey, Joseph R; Dwivedi, Dipankar; Horel, Scott A; Kantamneni, Jiji; Huber, John C; Zheng, Qi; Werler, Martha M; Kelley, Katherine E; Griesenbeck, John S; Zhan, F Benjamin; Langlois, Peter H; Suarez, Lucina; Canfield, Mark A

    2013-09-01

    Previous studies of prenatal exposure to drinking-water nitrate and birth defects in offspring have not accounted for water consumption patterns or potential interaction with nitrosatable drugs. We examined the relation between prenatal exposure to drinking-water nitrate and selected birth defects, accounting for maternal water consumption patterns and nitrosatable drug exposure. With data from the National Birth Defects Prevention Study, we linked addresses of 3,300 case mothers and 1,121 control mothers from the Iowa and Texas sites to public water supplies and respective nitrate measurements. We assigned nitrate levels for bottled water from collection of representative samples and standard laboratory testing. Daily nitrate consumption was estimated from self-reported water consumption at home and work. With the lowest tertile of nitrate intake around conception as the referent group, mothers of babies with spina bifida were 2.0 times more likely (95% CI: 1.3, 3.2) to ingest ≥ 5 mg nitrate daily from drinking water (vs. water nitrate intake did not increase associations between prenatal nitrosatable drug use and birth defects. Higher water nitrate intake was associated with several birth defects in offspring, but did not strengthen associations between nitrosatable drugs and birth defects.

  11. Apgar score of 0 at 5 minutes and neonatal seizures or serious neurologic dysfunction in relation to birth setting.

    Science.gov (United States)

    Grünebaum, Amos; McCullough, Laurence B; Sapra, Katherine J; Brent, Robert L; Levene, Malcolm I; Arabin, Birgit; Chervenak, Frank A

    2013-10-01

    To examine the occurrence of 5-minute Apgar scores of 0 and seizures or serious neurologic dysfunction for 4 groups by birth setting and birth attendant (hospital physician, hospital midwife, free-standing birth center midwife, and home midwife) in the United States from 2007-2010. Data from the United States Centers for Disease Control's National Center for Health Statistics birth certificate data files were used to assess deliveries by physicians and midwives in and out of the hospital for the 4-year period from 2007-2010 for singleton term births (≥37 weeks' gestation) and ≥2500 g. Five-minute Apgar scores of 0 and neonatal seizures or serious neurologic dysfunction were analyzed for 4 groups by birth setting and birth attendant (hospital physician, hospital midwife, freestanding birth center midwife, and home midwife). Home births (relative risk [RR], 10.55) and births in free-standing birth centers (RR, 3.56) attended by midwives had a significantly higher risk of a 5-minute Apgar score of 0 (P Apgar score of 0 and seizures or serious neurologic dysfunction of out-of-hospital births should be disclosed by obstetric practitioners to women who express an interest in out-of-hospital birth. Physicians should address patients' motivations for out-of-hospital delivery by continuously improving safe and compassionate care of pregnant, fetal, and neonatal patients in the hospital setting. Copyright © 2013 Mosby, Inc. All rights reserved.

  12. Birth defects surveillance in Florida: infant death certificates as a case ascertainment source.

    Science.gov (United States)

    Tanner, Jean Paul; Salemi, Jason L; Hauser, Kimberlea W; Correia, Jane A; Watkins, Sharon M; Kirby, Russell S

    2010-12-01

    Completeness of case ascertainment is a concern for all birth defects registries and generally requires a multisource approach. Using infant death certificates as one case ascertainment source may identify cases of birth defects that would have otherwise been missed. We sought to examine the utility of adding infant death certificates to the Florida Birth Defect Registry's (FBDR) case ascertainment methods and to determine what factors are associated with the registry's failure to capture infants that die from birth defects. FBDR cases from 1999 to 2006 were matched to a statewide linked birth-infant death file. Descriptive statistics were used to assess the FBDR's ability to capture infants with a birth defect-related cause of death (COD) and identify conditions most commonly missed. Factors associated with the FBDR's failure to capture an infant who died from a birth defect during the first year of life were identified with logistic regression models. There were 2558 (21.1%) infant deaths with birth defects listed as the underlying or an associated COD, of which the FBDR captured 73.3%. Most often missed defects included malformation of the coronary vessels, lung hypoplasia/dysplasia, anencephaly, and unspecified congenital malformations. Logistic regression identified gestational age/birth weight, age at death, autopsy decision, plurality, adequacy of prenatal care, and maternal nativity as factors associated with the FBDR's failure to capture an infant with a birth defect-related COD. Although the overall potential contribution of infant death certificates to the FBDR is small, this source contributes to the prevalence of specific defects. Copyright © 2010 Wiley-Liss, Inc.

  13. Systematic review of birth prevalence of neural tube defects in India.

    Science.gov (United States)

    Bhide, Prajkta; Sagoo, Gurdeep S; Moorthie, Sowmiya; Burton, Hilary; Kar, Anita

    2013-07-01

    Neural tube defects are one of the most prevalent congenital anomalies. Data on the total birth prevalence, live birth and stillbirth prevalence of neural tube defects in India are lacking. The objective of this study is to conduct a systematic review of birth prevalence of neural tube defects in India and compare it with existing estimates. A PubMed search identified 463 articles, of which 19 articles were eligible for inclusion in the review. Meta-analysis was used to estimate the overall birth prevalence of neural tube defects and to investigate the variation among studies identified by this review. The 19 articles reported a total of 308,387 births, among which 1310 cases of neural tube defects were reported, giving an overall birth prevalence of 4.1 per 1000 (95% confidence interval [CI], 3.1-5.4). The live birth and stillbirth prevalence of neural tube defects was 1.3 per 1000 births (95% CI, 0.9-1.8) and 1.7 per 1000 births (95% CI, 0.7-4.0), respectively. Among the neural tube defects, the reported prevalence of anencephaly was highest at 2.1 per 1000 births (95% CI, 1.6-2.8) followed by spina bifida at 1.9 per 1000 births (95% CI, 1.4-2.7). The systematic review suggests that neural tube defects contribute to a significant number of live births and stillbirths in India, suggesting that preconception folic acid supplementation should be an essential element of reproductive health services. Copyright © 2013 Wiley Periodicals, Inc.

  14. Under-reporting of major birth defects in Northwest Russia: a registry-based study

    Science.gov (United States)

    Kovalenko, Anton A.; Brenn, Tormod; Odland, Jon Øyvind; Nieboer, Evert; Krettek, Alexandra; Anda, Erik Eik

    2017-01-01

    ABSTRACT The objective was to assess the prevalence of selected major birth defects, based on data from two medical registries in Murmansk County, and compare the observed rates with those available for Norway and Arkhangelsk County, Northwest Russia. It included all newborns (≥22 completed weeks of gestation) registered in the Murmansk County Birth Registry (MCBR) and born between 1 January 2006 and 31 December 2009 (n=35,417). The infants were followed-up post-partum for 2 years through direct linkage to the Murmansk Regional Congenital Defects Registry (MRCDR). Birth defects identified and confirmed in both registries constituted the “cases” and corresponded to one or more of the 21 birth defect types reportable to health authorities in Moscow. The overall prevalence of major birth defects recorded in the MRCDR was 50/10,000 before linkage and 77/10,000 after linkage with the MCBR. Routine under-reporting to the MRCDR of 40% cases was evident. This study demonstrates that birth registry data improved case ascertainment and official prevalence assessments and reduced the potential of under-reporting by physicians. The direct linkage of the two registries revealed that hypospadias cases were the most prevalent among the major birth defects in Murmansk County. A bbreviations: ICD-10, International Classification of Diseases, 10th revision; MCBR, Murmansk County Birth Registry; MRCDR, Murmansk Regional Congenital Defects Registry; MGC, Murmansk Genetics Center PMID:28853333

  15. Neural tube defects in Costa Rica, 1987-2012: origins and development of birth defect surveillance and folic acid fortification.

    Science.gov (United States)

    Barboza-Argüello, María de la Paz; Umaña-Solís, Lila M; Azofeifa, Alejandro; Valencia, Diana; Flores, Alina L; Rodríguez-Aguilar, Sara; Alfaro-Calvo, Thelma; Mulinare, Joseph

    2015-03-01

    Our aim was to provide a descriptive overview of how the birth defects surveillance and folic acid fortification programs were implemented in Costa Rica-through the establishment of the Registry Center for Congenital Anomalies (Centro de Registro de Enfermedades Congénitas-CREC), and fortification legislation mandates. We estimated the overall prevalence of neural tube defects (i.e., spina bifida, anencephaly and encephalocele) before and after fortification captured by CREC. Prevalence was calculated by dividing the total number of infants born with neural tube defects by the total number of live births in the country (1987-2012).A total of 1,170 newborns with neural tube defects were identified from 1987 to 2012 (1992-1995 data excluded); 628 were identified during the baseline pre-fortification period (1987-1991; 1996-1998); 191 during the fortification period (1999-2002); and 351 during the post-fortification time period (2003-2012). The overall prevalence of neural tube defects decreased from 9.8 per 10,000 live-births (95 % CI 9.1-10.5) for the pre-fortification period to 4.8 per 10,000 live births (95 % CI 4.3-5.3) for the post-fortification period. Results indicate a statistically significant (P Costa Rica. Costa Rica's experience can serve as an example for other countries seeking to develop and strengthen both their birth defects surveillance and fortification programs.

  16. Neural Tube Defects in Costa Rica, 1987–2012: Origins and Development of Birth Defect Surveillance and Folic Acid Fortification

    Science.gov (United States)

    de la Paz Barboza-Argüello, María; Umaña-Solís, Lila M.; Azofeifa, Alejandro; Valencia, Diana; Flores, Alina L.; Rodríguez-Aguilar, Sara; Alfaro-Calvo, Thelma; Mulinare, Joseph

    2015-01-01

    Our aim was to provide a descriptive overview of how the birth defects surveillance and folic acid fortification programs were implemented in Costa Rica—through the establishment of the Registry Center for Congenital Anomalies (Centro de Registro de Enfermedades Congénitas—CREC), and fortification legislation mandates. We estimated the overall prevalence of neural tube defects (i.e., spina bifida, anencephaly and encephalocele) before and after fortification captured by CREC. Prevalence was calculated by dividing the total number of infants born with neural tube defects by the total number of live births in the country (1987–2012).A total of 1,170 newborns with neural tube defects were identified from 1987 to 2012 (1992–1995 data excluded); 628 were identified during the baseline pre-fortification period (1987–1991; 1996–1998); 191 during the fortification period (1999–2002); and 351 during the post-fortification time period (2003–2012). The overall prevalence of neural tube defects decreased from 9.8 per 10,000 live-births (95 % CI 9.1–10.5) for the pre-fortification period to 4.8 per 10,000 live births (95 % CI 4.3–5.3) for the post–fortification period. Results indicate a statistically significant (P Costa Rica. Costa Rica’s experience can serve as an example for other countries seeking to develop and strengthen both their birth defects surveillance and fortification programs. PMID:24952876

  17. Links between environmental geochemistry and rate of birth defects: Shanxi Province, China

    Energy Technology Data Exchange (ETDEWEB)

    Yu Haiying [State Key Laboratory of Earth Surface Processes and Resource Ecology, School of Geography, Beijing Normal University, Beijing 100875 (China); College of Resources and Environmental Sciences, Sichuan Agricultural University, Ya' an, Sichuan 625014 (China); Zhang Keli, E-mail: keli@bnu.edu.cn [State Key Laboratory of Earth Surface Processes and Resource Ecology, School of Geography, Beijing Normal University, Beijing 100875 (China)

    2011-01-01

    The rate of birth defects in Shanxi Province is among the highest worldwide. In order to identify the impacts of geochemical and environmental factors on birth defect risk, samples of soil, water and food were collected from an area with an unusually high rate of birth defects (study area) and an area with a low rate of birth defects (control area) in Shanxi Province, China. Element contents were determined by ICP-OES, and the results were analyzed using a non-parametric test and stepwise regression. Differences in the level and distribution of 14 geochemical elements, namely arsenic (As), selenium (Se), molybdenum (Mo), zinc (Zn), strontium (Sr), iron (Fe), tin (Sn), magnesium (Mg), vanadium (V), calcium (Ca), copper (Cu), aluminum (Al), potassium (K) and sulfur (S) were thus compared between the study and control areas. The results reveal that the geochemical element contents in soil, water and food show a significant difference between the study area and control area, and suggest that the study area was characterized by higher S and lower Sr and Al contents. These findings, based on statistical analysis, may be useful in directing further epidemiological investigations identifying the leading causes of birth defects. - Research Highlights: {yields} Environmental geochemistry has an significant impact on birth defects in the regions with an unusually high rate of birth defects. {yields} An excess of S and deficiency of Sr and Al are the distinctive environmental features associated with the high rate of birth defects in the Shanxi Province of China. {yields} Geochemical anomalies is a non-medical basis for effective prevention and cure of birth defects.

  18. Prenatal Nitrate Intake from Drinking Water and Selected Birth Defects in Offspring of Participants in the National Birth Defects Prevention Study

    Science.gov (United States)

    Weyer, Peter J.; Romitti, Paul A.; Mohanty, Binayak P.; Shinde, Mayura U.; Vuong, Ann M.; Sharkey, Joseph R.; Dwivedi, Dipankar; Horel, Scott A.; Kantamneni, Jiji; Huber, John C.; Zheng, Qi; Werler, Martha M.; Kelley, Katherine E.; Griesenbeck, John S.; Zhan, F. Benjamin; Langlois, Peter H.; Suarez, Lucina; Canfield, Mark A.

    2013-01-01

    Background: Previous studies of prenatal exposure to drinking-water nitrate and birth defects in offspring have not accounted for water consumption patterns or potential interaction with nitrosatable drugs. Objectives: We examined the relation between prenatal exposure to drinking-water nitrate and selected birth defects, accounting for maternal water consumption patterns and nitrosatable drug exposure. Methods: With data from the National Birth Defects Prevention Study, we linked addresses of 3,300 case mothers and 1,121 control mothers from the Iowa and Texas sites to public water supplies and respective nitrate measurements. We assigned nitrate levels for bottled water from collection of representative samples and standard laboratory testing. Daily nitrate consumption was estimated from self-reported water consumption at home and work. Results: With the lowest tertile of nitrate intake around conception as the referent group, mothers of babies with spina bifida were 2.0 times more likely (95% CI: 1.3, 3.2) to ingest ≥ 5 mg nitrate daily from drinking water (vs. Weyer PJ, Romitti PA, Mohanty BP, Shinde MU, Vuong AM, Sharkey JR, Dwivedi D, Horel SA, Kantamneni J, Huber JC Jr., Zheng Q, Werler MM, Kelley KE, Griesenbeck JS, Zhan FB, Langlois PH, Suarez L, Canfield MA, and the National Birth Defects Prevention Study. 2013. Prenatal nitrate intake from drinking water and selected birth defects in offspring of participants in the National Birth Defects Prevention Study. Environ Health Perspect 121:1083–1089; http://dx.doi.org/10.1289/ehp.1206249 PMID:23771435

  19. Birth Defects: What They Are and How They Happen

    Science.gov (United States)

    ... adrenal hyperplasia Congenital heart defects and CCHD Congenital syphilis Congenital Zika syndrome Cystic fibrosis and your baby Cytomegalovirus ... adrenal hyperplasia Congenital heart defects and CCHD Congenital syphilis Congenital Zika syndrome Cystic fibrosis and your baby Cytomegalovirus ...

  20. International adoption of children with birth defects: current knowledge and areas for further research.

    Science.gov (United States)

    Cochran, Meagan E; Nelson, Katherine R; Robin, Nathaniel H

    2014-12-01

    To summarize the existing literature on the international adoption of children with birth defects and identify areas for further research. International adoption brings thousands of children to the United States each year, and children with birth defects are overrepresented in this population. Studies have demonstrated disparities in the health of children adopted from different countries as well as the complexity of medical care needed after adoption. Although the health of children involved in international adoption has been well studied, there is a lack of information about the experiences of the adoptive parents of children with birth defects. We discuss a pilot study conducted on adoptive parents of children with a specific birth defect, orofacial clefting, and discuss areas for future research.

  1. Exploratory spatial data analysis for the identification of risk factors to birth defects

    Directory of Open Access Journals (Sweden)

    Song Xinming

    2004-06-01

    Full Text Available Abstract Background Birth defects, which are the major cause of infant mortality and a leading cause of disability, refer to "Any anomaly, functional or structural, that presents in infancy or later in life and is caused by events preceding birth, whether inherited, or acquired (ICBDMS". However, the risk factors associated with heredity and/or environment are very difficult to filter out accurately. This study selected an area with the highest ratio of neural-tube birth defect (NTBD occurrences worldwide to identify the scale of environmental risk factors for birth defects using exploratory spatial data analysis methods. Methods By birth defect registers based on hospital records and investigation in villages, the number of birth defects cases within a four-year period was acquired and classified by organ system. The neural-tube birth defect ratio was calculated according to the number of births planned for each village in the study area, as the family planning policy is strictly adhered to in China. The Bayesian modeling method was used to estimate the ratio in order to remove the dependence of variance caused by different populations in each village. A recently developed statistical spatial method for detecting hotspots, Getis's 7, was used to detect the high-risk regions for neural-tube birth defects in the study area. Results After the Bayesian modeling method was used to calculate the ratio of neural-tube birth defects occurrences, Getis's statistics method was used in different distance scales. Two typical clustering phenomena were present in the study area. One was related to socioeconomic activities, and the other was related to soil type distributions. Conclusion The fact that there were two typical hotspot clustering phenomena provides evidence that the risk for neural-tube birth defect exists on two different scales (a socioeconomic scale at 6.84 km and a soil type scale at 22.8 km for the area studied. Although our study has limited

  2. Elevated birth prevalence of conotruncal heart defects in a population with high consanguinity rate.

    Science.gov (United States)

    Stavsky, Moshe; Robinson, Renana; Sade, Maayan Yitshak; Krymko, Hanah; Zalstein, Eli; Ioffe, Viktorya; Novack, Victor; Levitas, Aviva

    2017-01-01

    The aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes. The aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs. The data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes. During 1991-2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, pprevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.

  3. Control selection and participation in an ongoing, population-based, case-control study of birth defects: the National Birth Defects Prevention Study.

    Science.gov (United States)

    Cogswell, Mary E; Bitsko, Rebecca H; Anderka, Marlene; Caton, Alissa R; Feldkamp, Marcia L; Hockett Sherlock, Stacey M; Meyer, Robert E; Ramadhani, Tunu; Robbins, James M; Shaw, Gary M; Mathews, T J; Royle, Marjorie; Reefhuis, Jennita

    2009-10-15

    To evaluate the representativeness of controls in an ongoing, population-based, case-control study of birth defects in 10 centers across the United States, researchers compared 1997-2003 birth certificate data linked to selected controls (n = 6,681) and control participants (n = 4,395) with those from their base populations (n = 2,468,697). Researchers analyzed differences in population characteristics (e.g., percentage of births at > or =2,500 g) for each group. Compared with their base populations, control participants did not differ in distributions of maternal or paternal age, previous livebirths, maternal smoking, or diabetes, but they did differ in other maternal (i.e., race/ethnicity, education, entry into prenatal care) and infant (i.e., birth weight, gestational age, and plurality) characteristics. Differences in distributions of maternal, but not infant, characteristics were associated with participation by selected controls. Absolute differences in infant characteristics for the base population versus control participants were controls from hospitals compared with centers that selected controls from electronic birth certificates. These findings suggest that control participants in the National Birth Defects Prevention Study generally are representative of their base populations. Hospital-based control selection may slightly underascertain infants affected by certain adverse birth outcomes.

  4. [Study on a back propogation neural network-based predictive model for prevalence of birth defect].

    Science.gov (United States)

    Wang, Wei; Xu, Wei; Zheng, Ya-jun; Zhou, Bao-sen

    2007-05-01

    To evaluate the value of a back propogation (BP) network on prediction of birth defect and to give clues on its prevention. Data of birth defect in Shenyang from 1995 to 2005 were used as a training set to predict the prevalence rate of birth defect. Neural network tools box of Software MATLAB 6.5 was used to train and simulate BP Artificial Neural Network. When using data of the year 1995-2003 to predict the prevalence rate of birth defect in 2004-2005, the results showed that: the fitting average error of prevalence rate was 1.34%, RNL was 0.9874, and the prediction of average error was 1.78%. Using data of the year 1995-2005 to predict the prevalence rate of birth defect in 2006-2007, the results showed that: the fitting average error was 0.33%, RNL was 0.9954, the prevalence rates of birth defect in 2006-2007 were 11.00% and 11.29%. Compared to the conventional statistics method, BP not only showed better prediction precision, but had no limit to the type or distribution of relevant data, thus providing a powerful method in epidemiological prediction.

  5. Circulatory adjustments after birth: effects on ventricular septal defect

    Science.gov (United States)

    Rudolph, Abraham M.

    1971-01-01

    The haemodynamic effects and clinical manifestations of congenital heart lesions may be greatly influenced by developmental changes in the circulation. The sequential changes associated with abnormal communications between the systemic and pulmonary circulations are well typified by the effect on ventricular septal defect. The possible influences of ventricular septal defect on the foetal circulation are first presented, and the interrelationship between ventricular septal defect and postnatal adjustments of the circulation are discussed. PMID:5572641

  6. Acardia : Epidemiologic Findings and Literature Review From the International Clearinghouse for Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Botto, Lorenzo D.; Feldkamp, Marcia L.; Amar, Emmanuelle; Carey, John C.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; de Walle, Hermien E. K.; Halliday, Jane; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Marengo, Lisa K.; Martinez-Frias, Maria-Luisa; Merlob, Paul; Morgan, Margery; Luna Munoz, Leonora; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Mastroiacovo, Pierpaolo

    2011-01-01

    Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth

  7. Birth defects after use of antithyroid drugs in early pregnancy: a Swedish nationwide study.

    Science.gov (United States)

    Andersen, Stine Linding; Lönn, Stefan; Vestergaard, Peter; Törring, Ove

    2017-10-01

    Antithyroid drugs (ATDs) may have teratogenic effects, but more evidence is needed on the risk and types of birth defects after the use of methimazole (MMI) and propylthiouracil (PTU). This study aimed to evaluate the association between the use of ATDs in early pregnancy and birth defects. Swedish nationwide register-based cohort study. The study included 684 340 children live-born in Sweden from 2006 to 2012. Exposure groups defined by maternal ATD use in early pregnancy were MMI (n = 162); PTU (n = 218); MMI and PTU (n = 66); ATD before or after, but not in pregnancy (n = 1551) and non-exposed (never ATD (n = 682 343)). Outcome was cumulative incidence of birth defects diagnosed before two years of age. The cumulative incidence of birth defects was not significantly different in children exposed to MMI (6.8%, P = 0.6) or PTU (6.4%, P = 0.4) vs non-exposed (8.0%). For subtypes of birth defects, MMI was associated with an increased incidence of septal heart defects (P = 0.02). PTU was associated with ear (P = 0.005) and obstructive urinary system malformations (P = 0.006). A case of choanal atresia was observed after exposure to both MMI and PTU. The incidence of birth defects in children born to mothers who received ATD before or after, but not in pregnancy, was 8.8% and not significantly different from non-exposed (P = 0.3), MMI exposed (P = 0.4) or PTU exposed (P = 0.2). MMI and PTU were associated with subtypes of birth defects previously reported, but the frequency of ATD exposure in early pregnancy was low and severe malformations described in the MMI embryopathy were rarely observed. © 2017 European Society of Endocrinology.

  8. Maternal hypertensive disorders, antihypertensive medication use, and the risk of birth defects: a case-control study

    NARCIS (Netherlands)

    Gelder, M.M.H.J. van; Bennekom, C.M. Van; Louik, C.; Werler, M.M.; Roeleveld, N.; Mitchell, A.A.

    2015-01-01

    OBJECTIVE: To study previously identified associations between specific maternal hypertensive disorders and/or prenatal exposure to antihypertensive medication and birth defects. DESIGN: Case-control study. SETTING: Slone Birth Defects Study, 1998-2010. POPULATION: A total of 5568 cases with birth

  9. Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

    Directory of Open Access Journals (Sweden)

    Fabricio González-Andrade

    2010-04-01

    Full Text Available Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class.Methods: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry.Results: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9% and 7053 were female (42.1%. BPR in males was 40.45 and in

  10. Lost in Translation: Defects in Transfer RNA Modifications and Neurological Disorders

    Directory of Open Access Journals (Sweden)

    Andrea Bednářová

    2017-05-01

    Full Text Available Transfer RNAs (tRNAs are key molecules participating in protein synthesis. To augment their functionality they undergo extensive post-transcriptional modifications and, as such, are subject to regulation at multiple levels including transcription, transcript processing, localization and ribonucleoside base modification. Post-transcriptional enzyme-catalyzed modification of tRNA occurs at a number of base and sugar positions and influences specific anticodon–codon interactions and regulates translation, its efficiency and fidelity. This phenomenon of nucleoside modification is most remarkable and results in a rich structural diversity of tRNA of which over 100 modified nucleosides have been characterized. Most often these hypermodified nucleosides are found in the wobble position of tRNAs, where they play a direct role in codon recognition as well as in maintaining translational efficiency and fidelity, etc. Several recent studies have pointed to a link between defects in tRNA modifications and human diseases including neurological disorders. Therefore, defects in tRNA modifications in humans need intensive characterization at the enzymatic and mechanistic level in order to pave the way to understand how lack of such modifications are associated with neurological disorders with the ultimate goal of gaining insights into therapeutic interventions.

  11. Prevalence of birth defects and risk-factor analysis from a population-based survey in Inner Mongolia, China

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    Zhang Xingguang

    2012-08-01

    Full Text Available Abstract Background Birth Defects are a series of diseases that seriously affect children's health. Birth defects are generally caused by several interrelated factors. The aims of the article is to estimate the prevalence rate and types of birth defects in Inner Mongolia, China, to compare socio-demographic characteristics among the children with birth defects and to analyze the association between risk factors and birth defects. Methods Data used in this study were obtained through baseline survey of Inner Mongolia Birth Defects Program, a population-based survey conducted from 2005 to 2008. The survey used cluster sampling method in all 12 administrative districts of Inner Mongolia. Sampling size is calculated according to local population size at a certain percentage. All live births, stillbirths and abortions born from October 2005 to September 2008, whose families lived in Inner Mongolia at least one year, were included. The cases of birth defects were diagnosed by the clinical doctors according to their experiences with further laboratory tests if needed. The inclusion criteria of the cases that had already dead were decided according to death records available at local cites. We calculated prevalence rate and 95% confidence intervals of different groups. Outcome variable was the occurrence of birth defects and associations between risk factors and birth defects were analyzed by using Poisson regression analysis. Results 976 children with birth defects were diagnosed. The prevalence rate of birth defects was 156.1 per 10000 births (95%CI: 146.3-165.8. The prevalence rate of neural tube defect (20.1 per 10000 births including anencephaly(6.9 per 10000, spina bifida (10.6 per 10000, and encephalocele (2.7 per 10000 was the highest, followed by congenital heart disease (17.1 per 10000. The relative risk (RR for maternal age less than 25 was 2.22 (95%CI: 2.05, 2.41. The RR of the ethnic Mongols was lower than Han Chinese (RR: 0.84; 95%CI: 0

  12. Development of a web-based integrated birth defects surveillance system in New York State.

    Science.gov (United States)

    Wang, Ying; Tao, Zhen; Cross, Philip K; Le, Linh H; Steen, Patricia M; Babcock, Gwen D; Druschel, Charlotte M; Hwang, Syni-An

    2008-01-01

    Over the past decade, the Internet has become a powerful and effective tool for public health surveillance. The objectives of this project were to develop secure Web-based applications for Birth Defects Surveillance and to integrate them into routine surveillance activities of the New York State (NYS) Congenital Malformations Registry (CMR). The Web-based applications were developed on infrastructure of New York State Health Provider Network using JAVA programming language. In addition, SAS/IntrNet software (SAS Institute Inc, Cary, NC) was also used to leverage the data analysis and processing capabilities of SAS for generating real-time reports and performing statistical and spatial analyses. Congenital Malformations Registry staff have developed and implemented a Web-based integrated birth defect surveillance system, which enables staff to routinely perform surveillance activities including monitoring the quality, timeliness, and completeness of case reporting by hospitals; matching the CMR cases to the vital records; conducting trends analysis on birth defect prevalence and mortality with data query and visualization capabilities; and performing temporal and spatial analysis. The CMR's Web-based integrated birth defects surveillance system empowers authorized users to perform routine surveillance activities using only a PC and a Web browser. This system will help NYS public health professionals and epidemiologists perform trend analyses and identify possible clusters of birth defects in space and time that may be related to environmental toxins.

  13. Birth defects in Iraq and the plausibility of environmental exposure: A review

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    Al-Hadithi Tariq S

    2012-07-01

    Full Text Available Abstract An increased prevalence of birth defects was allegedly reported in Iraq in the post 1991 Gulf War period, which was largely attributed to exposure to depleted uranium used in the war. This has encouraged further research on this particular topic. This paper reviews the published literature and provided evidence concerning birth defects in Iraq to elucidate possible environmental exposure. In addition to published research, this review used some direct observation of birth defects data from Al-Ramadi Maternity and Paediatric Hospital in Al-Anbar Governorate in Iraq from1st July 2000 through 30th June 2002. In addition to depleted uranium other war-related environmental factors have been studied and linked directly or indirectly with the increasing prevalence of birth defects. However, the reviewed studies and the available research evidence do not provide a clear increase in birth defects and a clear indication of a possible environmental exposure including depleted uranium although the country has been facing several environmental challenges since 1980.

  14. Selected birth defects among males following the United States terrorist attacks of 11 September 2001.

    Science.gov (United States)

    Singh, Parvati; Yang, Wei; Shaw, Gary M; Catalano, Ralph; Bruckner, Tim A

    2017-10-02

    The terrorist attacks of 11 September 2001 (hereafter referred to as 9/11) preceded an increase in male fetal deaths and reduced male live births among exposed gestational cohorts across several geographic locations in the United States, including California. We analyze whether the extreme stressor of 9/11 may have selected against frail males in utero by testing if the prevalence of male births with selected defects in California fell among cohorts exposed to the stressor during gestation. We used data from the California Birth Defects Monitoring Program from July 1985 to January 2004 (223 conception cohorts). We included six birth defects that as a group of phenotypes disproportionately affect males. We applied time-series methods and defined as "exposed to 9/11" the cohorts conceived in February, March, April, May, June, July, and August 2001. Three of the seven monthly conception cohorts exposed to 9/11 in utero show lower than expected odds of live born males with the studied defects: February 2001 (odds ratio [OR] = 0.39; 95% confidence interval [CI], 0.21-0.71), May 2001 (OR = 0.36; 95% CI, 0.16-0.81), and August 2001 (OR = 0.51; 95% CI, 0.28-0.93). The population-wide stressor of 9/11 precedes a reduction in the risk of live born males with selected birth defects. Our analysis contributes to the understanding of adaptation to stress among pregnant women exposed to large and unexpected ambient stressors. Results further support the notion that the prevalence of live born defects may reflect temporal variation in cohort selection in utero against frail males. Birth Defects Research 109:1277-1283, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  15. Knowledge of birth defects among nursing mothers in a developing ...

    African Journals Online (AJOL)

    Objectives: The aim of the study was to determine the awareness of mothers about birth effects in a developing country and assess what they know .... equinovarus deformity, congenital heart diseases, cran- iofacial malformations e.g. cleft lip ..... knowledge score of sickle cell disease or cystic fibrosis in a survey of American ...

  16. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

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    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  17. Magnitude of Birth Defects in Central and Northwest Ethiopia from 2010-2014: A Descriptive Retrospective Study.

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    Molla Taye

    Full Text Available Birth defects are defined as structural and functional defects that develop during the organogenesis period and present at birth or detected later in life. They are one of the leading causes of infant and child mortality, morbidity, and long term disability. The magnitude of birth defects varies from country to country and from race/ethnicity to race/ethnicity, and about 40-60% of their causes are unknown. The known causes of birth defects are genetic and environmental factors which may be prevented. For various reasons, there is lack of data and research on birth defects in Ethiopia.The major objective of this study is to estimate the magnitude of birth defects in Ethiopia.A hospital based, retrospective, cross sectional, descriptive study was conducted. The subjects were babies/children aged 0-17years who visited selected hospitals between 2010 and 2014. Fourteen hospitals (8 in Addis Ababa, 6 in Amhara Region were selected purposively based on case load. A data retrieving form was developed to extract relevant information from record books.In the hospitals mentioned, 319,776 various medical records of children aged 0-17years were found. Of these, 6,076 (1.9% with 95% CI: 1.85%-1.95% children were diagnosed as having birth defects. The majority (58.5% of the children were male and 41.5% female. A slightly more than half (51.1% of the children were urban dwellers, while 48.9% were from rural areas. Among the participants of the study the proportion of birth defects ranged as follows: orofacial (34.2%, neural tube (30.8%, upper and lower limb (12.8%, cardiovascular system (10.3%, digestive system and abdominal wall (4.8%, unspecified congenital malformations (2.5%, Down syndrome (2%, genitourinary system (2%, head, face, and neck defects (0.4%, and others (0.3%. The trend of birth defects increased linearly over time [Extended Mantel-Haenszel chi square for linear trend = 356.7 (P<0.0001]. About 275 (4.5% of the cases had multiple (associated

  18. The Brazilian Zika virus strain causes birth defects in experimental models.

    Science.gov (United States)

    Cugola, Fernanda R; Fernandes, Isabella R; Russo, Fabiele B; Freitas, Beatriz C; Dias, João L M; Guimarães, Katia P; Benazzato, Cecília; Almeida, Nathalia; Pignatari, Graciela C; Romero, Sarah; Polonio, Carolina M; Cunha, Isabela; Freitas, Carla L; Brandão, Wesley N; Rossato, Cristiano; Andrade, David G; Faria, Daniele de P; Garcez, Alexandre T; Buchpigel, Carlos A; Braconi, Carla T; Mendes, Erica; Sall, Amadou A; Zanotto, Paolo M de A; Peron, Jean Pierre S; Muotri, Alysson R; Beltrão-Braga, Patricia C B

    2016-06-09

    Zika virus (ZIKV) is an arbovirus belonging to the genus Flavivirus (family Flaviviridae) and was first described in 1947 in Uganda following blood analyses of sentinel Rhesus monkeys. Until the twentieth century, the African and Asian lineages of the virus did not cause meaningful infections in humans. However, in 2007, vectored by Aedes aegypti mosquitoes, ZIKV caused the first noteworthy epidemic on the Yap Island in Micronesia. Patients experienced fever, skin rash, arthralgia and conjunctivitis. From 2013 to 2015, the Asian lineage of the virus caused further massive outbreaks in New Caledonia and French Polynesia. In 2013, ZIKV reached Brazil, later spreading to other countries in South and Central America. In Brazil, the virus has been linked to congenital malformations, including microcephaly and other severe neurological diseases, such as Guillain-Barré syndrome. Despite clinical evidence, direct experimental proof showing that the Brazilian ZIKV (ZIKV(BR)) strain causes birth defects remains absent. Here we demonstrate that ZIKV(BR) infects fetuses, causing intrauterine growth restriction, including signs of microcephaly, in mice. Moreover, the virus infects human cortical progenitor cells, leading to an increase in cell death. We also report that the infection of human brain organoids results in a reduction of proliferative zones and disrupted cortical layers. These results indicate that ZIKV(BR) crosses the placenta and causes microcephaly by targeting cortical progenitor cells, inducing cell death by apoptosis and autophagy, and impairing neurodevelopment. Our data reinforce the growing body of evidence linking the ZIKV(BR) outbreak to the alarming number of cases of congenital brain malformations. Our model can be used to determine the efficiency of therapeutic approaches to counteracting the harmful impact of ZIKV(BR) in human neurodevelopment.

  19. Association between prenatal exposure to antiretroviral therapy and birth defects: an analysis of the French perinatal cohort study (ANRS CO1/CO11.

    Directory of Open Access Journals (Sweden)

    Jeanne Sibiude

    2014-04-01

    .04. We found a significant association between efavirenz and neurological defects (n = 4 using the MACDP classification: AOR = 3.0 (95% CI 1.1-8.5, p = 0.04, absolute risk +0.7% (95% CI +0.07%; +1.3%. But the association was not significant using the less inclusive EUROCAT classification: AOR = 2.1 (95% CI 0.7-5.9, p = 0.16. No association was found between birth defects and lopinavir or ritonavir with a power >85% for an odds ratio of 1.5, nor for nevirapine, tenofovir, stavudine, or abacavir with a power >70%. Limitations of the present study were the absence of data on termination of pregnancy, stillbirths, tobacco and alcohol intake, and concomitant medication. CONCLUSIONS: We found a specific association between in utero exposure to zidovudine and heart defects; the mechanisms need to be elucidated. The association between efavirenz and neurological defects must be interpreted with caution. For the other drugs not associated with birth defects, the results were reassuring. Finally, whatever the impact that some ARV drugs may have on birth defects, it is surpassed by the major role of ART in the successful prevention of mother-to-child transmission of HIV. Please see later in the article for the Editors' Summary.

  20. Differences in risk factors for second and third degree hypospadias in the national birth defects prevention study

    NARCIS (Netherlands)

    Woud, S.G.; Rooij, I.A.L.M. van; Gelder, M.M.H.J. van; Olney, R.S.; Carmichael, S.L.; Roeleveld, N.; Reefhuis, J.; Prevention, S. National Birth

    2014-01-01

    BACKGROUND: Hypospadias is a frequent birth defect with three phenotypic subtypes. With data from the National Birth Defects Prevention Study, a large, multi-state, population-based, case-control study, we compared risk factors for second and third degree hypospadias. METHODS: A wide variety of data

  1. What Is the Best Approach to Reducing Birth Defects Associated with Isotretinoin?

    Science.gov (United States)

    Abroms, Lorien; Maibach, Edward; Lyon-Daniel, Katherine; Feldman, Steven R

    2006-01-01

    Background to the debate: Isotretinoin is an effective treatment for severe acne, a condition which can be physically, emotionally, and socially disabling. Because the drug is teratogenic, causing severe birth defects, women taking the drug are directed to avoid pregnancy. In the United States, a series of risk reduction programs have been implemented that aim to prevent pregnant women from taking the drug and to prevent women taking it from getting pregnant. The most recent, and most stringent, is an Internet-based, performance-linked system called iPLEDGE, which tries to ensure that the drug is dispensed only when there is documentary proof that the patient is not pregnant and is using two forms of birth control. Is iPLEDGE the best way to reduce isotretinoin birth defects, or is it an unproven and overly burdensome system? PMID:17121451

  2. Radically truncated MeCP2 rescues Rett syndrome-like neurological defects.

    Science.gov (United States)

    Tillotson, Rebekah; Selfridge, Jim; Koerner, Martha V; Gadalla, Kamal K E; Guy, Jacky; De Sousa, Dina; Hector, Ralph D; Cobb, Stuart R; Bird, Adrian

    2017-10-19

    Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine. Functionally, MeCP2 has been implicated in several cellular processes on the basis of its reported interaction with more than 40 binding partners, including transcriptional co-repressors (for example, the NCoR/SMRT complex), transcriptional activators, RNA, chromatin remodellers, microRNA-processing proteins and splicing factors. Accordingly, MeCP2 has been cast as a multi-functional hub that integrates diverse processes that are essential in mature neurons. At odds with the concept of broad functionality, missense mutations that cause Rett syndrome are concentrated in two discrete clusters coinciding with interaction sites for partner macromolecules: the methyl-CpG binding domain and the NCoR/SMRT interaction domain. Here we test the hypothesis that the single dominant function of MeCP2 is to physically connect DNA with the NCoR/SMRT complex, by removing almost all amino-acid sequences except the methyl-CpG binding and NCoR/SMRT interaction domains. We find that mice expressing truncated MeCP2 lacking both the N- and C-terminal regions (approximately half of the native protein) are phenotypically near-normal; and those expressing a minimal MeCP2 additionally lacking a central domain survive for over one year with only mild symptoms. This minimal protein is able to prevent or reverse neurological symptoms when introduced into MeCP2-deficient mice by genetic activation or virus-mediated delivery to the brain. Thus, despite evolutionary conservation of the entire MeCP2 protein sequence, the DNA and co-repressor binding domains alone are sufficient to avoid Rett syndrome-like defects and may therefore have therapeutic utility.

  3. Effect of consanguinity on birth defects in Saudi women: results from a nested case-control study.

    Science.gov (United States)

    Majeed-Saidan, Muhammad Ali; Ammari, Amer N; AlHashem, Amal M; Al Rakaf, Maha S; Shoukri, Mohamed M; Garne, Ester; Kurdi, Ahmed Mohammed

    2015-02-01

    The role of consanguinity in the etiology of structural birth defects outside of chromosomal and inherited disorders has always been debated. We studied the independent role of consanguinity on birth defects in Saudi women with a high prevalence of consanguineous marriages. This case and control study was nested within a 3-year prospective cohort study to examine patterns of fetal and neonatal malformations in Saudi women at Prince Sultan Military Medical City (PSMMC), Riyadh -Saudi Arabia. Consanguineous marriages were defined as marriages with first or second cousins (related); unions beyond second cousins (distant relatives) were considered unrelated for this study. During the 3-year study (July 2010 through June 2013), there were 28,646 total births; of these, we included 1,179 babies with major birth defects, and 1,262 babies as their controls. The consanguinity prevalence for all included women was 49.6%. The consanguinity among babies with major Birth Defects (BDs) was 54.5% and 45.2% for controls (P prevalence of major birth defects was 41.1 per 1000 total births. Univariate analysis showed that consanguinity had a statistically significant contribution in babies born with genetic syndromes, isolated renal defects, and isolated other defects (P consanguinity was an independent risk factor for this high prevalence of birth defects in the study population (P prevalence of major birth defects in the study population is higher than what is reported from European countries. Consanguinity is a significant independent risk factor for the high prevalence of birth defects. © 2014 Wiley Periodicals, Inc.

  4. Importance of gene-environment interactions in the etiology of selected birth defects.

    Science.gov (United States)

    Zhu, H; Kartiko, S; Finnell, R H

    2009-05-01

    It is generally understood that both genetic and environmental factors contribute to the highly complex etiology of structural birth defects, including neural tube defects, oral clefts and congenital heart defects, by disrupting highly regulated embryonic developmental processes. The intrauterine environment of the developing embryo/fetus is determined by maternal factors such as health/disease status, lifestyle, medication, exposure to environmental teratogens, as well as the maternal genotype. Certain genetic characteristics of the embryo/fetus also predispose it to developmental abnormalities. Epidemiologic and animal studies conducted over the last few decades have suggested that the interplay between genes and environmental factors underlies the etiological heterogeneity of these defects. It is now widely believed that the study of gene-environment interactions will lead to better understanding of the biological mechanisms and pathological processes that contribute to the development of complex birth defects. It is only through such an understanding that more efficient measures will be developed to prevent these severe, costly and often deadly defects. In this review, we attempt to summarize the complex clinical and experimental literature on current hypotheses of interactions between several select environmental factors and those genetic pathways in which they are most likely to have significant modifying effects. These include maternal folate nutritional status, maternal diabetes/obesity-related conditions, and maternal exposure to selected medications and environmental contaminants. Our goal is to highlight the potential gene-environment interactions affecting early embryogenesis that deserve comprehensive study.

  5. Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile.

    Science.gov (United States)

    López-Camelo, Jorge S; Orioli, Iêda M; da Graça Dutra, Maria; Nazer-Herrera, Julio; Rivera, Nelson; Ojeda, María Elena; Canessa, Aurora; Wettig, Elisabeth; Fontannaz, Ana María; Mellado, Cecília; Castilla, Eduardo E

    2005-06-01

    To verify whether the decreasing neural tube defects birth prevalence rates in Chile are due to folic acid fortification or to pre-existing decreasing trends, we performed a population survey using a network of Estudio Colaborativo Latino Americano de Malformaciones Congenitas (ECLAMC, Latin American Collaborative Study of Congenital Malformations) maternity hospitals in Chile, between the years 1982 and 2002. Within each maternity hospital, birth prevalence rates of spina bifida and anencephaly were calculated from two pre-fortification periods (1982-1989 and 1990-2000), and from one fortified period (2001-2002). There was no historical trend for spina bifida birth prevalence rates before folic acid fortification, and there was a 51% (minimum 27%, maximum 66%) decrease in the birth prevalence rates of this anomaly in the fortified period. The relative risks of spina bifida were homogeneous among hospitals in the two period comparisons. There was no historical trend for the birth prevalence of anencephaly comparing the two pre-fortified periods, but the relative risks were heterogeneous among hospitals in this comparison. There was a 42% (minimum 10%, maximum 63%) decrease in the birth prevalence rate of anencephaly in the fortified period as compared with the immediately pre-fortified period, with homogeneous relative risks among hospitals. Within the methodological constraints of this study we conclude that the birth prevalence rates for both spina bifida and anencephaly decreased as a result of folic acid fortification, without interference of decreasing secular trends. Copyright (c) 2005 Wiley-Liss, Inc.

  6. Maternal factors and the risk of birth defects after IVF and ICSI: a whole of population cohort study.

    Science.gov (United States)

    Davies, M J; Rumbold, A R; Marino, J L; Willson, K; Giles, L C; Whitrow, M J; Scheil, W; Moran, L J; Thompson, J G; Lane, M; Moore, V M

    2017-09-01

    To assess the contribution of maternal factors to major birth defects after in vitro fertilisation (IVF), intracytoplasmic sperm injection (ICSI), and natural conception. Retrospective cohort study in South Australia for the period January 1986 to December 2002. A whole of population study. A census of all IVF and ICSI linked to registries for births, pregnancy terminations, and birth defects (diagnosed before a child's fifth birthday). Odds ratios (ORs) for birth defects were calculated among IVF, ICSI, and natural conceptions for maternal age, parity, pre-pregnancy BMI, smoking, pre-existing diseases, and conditions in pregnancy, with adjustment for confounding factors. Birth defects classified by International Classification of Diseases (ninth revision) and British Paediatric Association (ICD9-BPA) codes. There were 2211 IVF, 1399 ICSI, and 301 060 naturally conceived births. The unadjusted prevalence of any birth defect was 7.1, 9.9, and 5.7% in the IVF, ICSI, and natural conception groups, respectively. As expected, the risk of birth defects increased with maternal age among the natural conceptions. In contrast, for IVF and ICSI combined, relative to natural conceptions, births to women aged ≤29 years had a higher risk (adjusted odds ratio, aOR 1.42; 95% confidence interval, 95% CI 1.04-1.94), births to women aged 35-39 years had no difference in risk (aOR 1.01; 95% CI 0.74-1.37), and births to women aged ≥40 years had a lower risk of defects (aOR 0.45; 95% CI 0.22-0.92). Defects were also elevated for nulliparity, anaemia, and urinary tract infection in births after ICSI, but not after IVF. The usual age-birth defect relationship is reversed in births after IVF and ICSI, and the associations for other maternal factors and defects vary between IVF and ICSI. Risk of birth defects in women over 40 years is lower after infertility treatment than for natural conceptions. © 2016 Royal College of Obstetricians and Gynaecologists.

  7. Birth Defects Among Fetuses and Infants of US Women With Evidence of Possible Zika Virus Infection During Pregnancy.

    Science.gov (United States)

    Honein, Margaret A; Dawson, April L; Petersen, Emily E; Jones, Abbey M; Lee, Ellen H; Yazdy, Mahsa M; Ahmad, Nina; Macdonald, Jennifer; Evert, Nicole; Bingham, Andrea; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Oduyebo, Titilope; Fine, Anne D; Brown, Catherine M; Sommer, Jamie N; Gupta, Jyoti; Cavicchia, Philip; Slavinski, Sally; White, Jennifer L; Owen, S Michele; Petersen, Lyle R; Boyle, Coleen; Meaney-Delman, Dana; Jamieson, Denise J

    2017-01-03

    Understanding the risk of birth defects associated with Zika virus infection during pregnancy may help guide communication, prevention, and planning efforts. In the absence of Zika virus, microcephaly occurs in approximately 7 per 10 000 live births. To estimate the preliminary proportion of fetuses or infants with birth defects after maternal Zika virus infection by trimester of infection and maternal symptoms. Completed pregnancies with maternal, fetal, or infant laboratory evidence of possible recent Zika virus infection and outcomes reported in the continental United States and Hawaii from January 15 to September 22, 2016, in the US Zika Pregnancy Registry, a collaboration between the CDC and state and local health departments. Laboratory evidence of possible recent Zika virus infection in a maternal, placental, fetal, or infant sample. Birth defects potentially Zika associated: brain abnormalities with or without microcephaly, neural tube defects and other early brain malformations, eye abnormalities, and other central nervous system consequences. Among 442 completed pregnancies in women (median age, 28 years; range, 15-50 years) with laboratory evidence of possible recent Zika virus infection, birth defects potentially related to Zika virus were identified in 26 (6%; 95% CI, 4%-8%) fetuses or infants. There were 21 infants with birth defects among 395 live births and 5 fetuses with birth defects among 47 pregnancy losses. Birth defects were reported for 16 of 271 (6%; 95% CI, 4%-9%) pregnant asymptomatic women and 10 of 167 (6%; 95% CI, 3%-11%) symptomatic pregnant women. Of the 26 affected fetuses or infants, 4 had microcephaly and no reported neuroimaging, 14 had microcephaly and brain abnormalities, and 4 had brain abnormalities without microcephaly; reported brain abnormalities included intracranial calcifications, corpus callosum abnormalities, abnormal cortical formation, cerebral atrophy, ventriculomegaly, hydrocephaly, and cerebellar abnormalities

  8. Cancer and birth defects surveillance system for communities around the Savannah River Site: Phase 2 -- Birth defects. Technical progress report, year 01

    Energy Technology Data Exchange (ETDEWEB)

    Dunbar, J.B.

    1995-10-01

    The Savannah River Region Health Information System Birth Defects Registry (SRRHIS-BDR) began on September 30, 1994. As with the SRRHIS Cancer Registry, surveillance of the 12 Georgia counties was subcontracted to Emory University School of Public Health. Collaborative efforts between the Medical University of South Carolina (MUSC) and Emory University staffs have been characterized by warm relationships and commitment to developing a state of the art registry. As a result of early planning efforts, the authors were able to actually activate the data collection. As of the end of September 1995, partial data from the 1994 birth cohort and up-to-date data for the 1995 birth cohort had been collected on the South Carolina side. The Georgia Staff started later and have not yet caught up to the 1994 level. South Carolina was able to start earlier because they were fortunate to quickly recruit an abstractor. Also, by the end of the first year, an innovative automated data entry system for laptop computers was developed by the computer staff to facilitate and improve data collection.

  9. A Study of Handling Cytotoxic Drugs and Risk of Birth Defects in Offspring of Female Veterinarians

    Directory of Open Access Journals (Sweden)

    Adeleh Shirangi

    2014-06-01

    Full Text Available We examined the association of occupational exposure to handling cytotoxic drugs at work with risk of birth defects among a cohort of female veterinarians. This study is a follow up survey of 321 female participants (633 pregnancies who participated in the Health Risks of Australian Veterinarian project. Data on pregnancies and exposure during each pregnancy was obtained by self-administered mailed questionnaire. Female veterinarians handling cytotoxic drugs during their pregnancy had a two-fold increased risk of birth defects in their offspring (RR = 2.08, 95% CI (1.05–4.15. Results were consistent in subgroup analysis of those who graduated during the period of 1961 to 1980 (RR = 5.04, 95% CI (1.81, 14.03 and in those working specifically in small and large animal practice. There was no increased risk in the subgroup that graduated after 1980. Women with unplanned pregnancies were more likely to handle cytotoxic drugs on a daily basis (RR = 1.86, 95% CI, 1.00–3.48 and had a higher increased risk of birth defects than those who planned their pregnancies in recent graduates and in those who worked specifically in small animal practice (RR = 2.53, 95% CI, 1.18–5.42. This study suggests that the adverse effects of handling cytotoxic drugs in pregnant women may include an increased risk of birth defects. Pregnancy intention status is an important health behavior and should be considered in prenatal programs.

  10. Cancer and birth defects surveillance system for communities around the Savannah River Site. Annual progress report

    Energy Technology Data Exchange (ETDEWEB)

    Dunbar, J.B.

    1994-05-01

    The US DOE funded this grant to the Medical University of South Carolina for a cancer and birth defects registry for an initial three year period which was completed as of April 29, 1994. While this Technical Progress Report is prepared principally to document the activities of year 03, it also summarizes the accomplishments of the first two years in order to put into perspective the energy and progress of the program over the entire three year funding cycle.

  11. Effects and safety of periconceptional folate supplementation for preventing birth defects

    Science.gov (United States)

    Maria De-Regil, Luz; Fernández-Gaxiola, Ana C; Dowswell, Therese; Peña-Rosas, Juan Pablo

    2014-01-01

    Background It has been reported that neural tube defects can be prevented with periconceptional folic acid supplementation. The effects of different doses, forms and schemes of folate supplementation for the prevention of other birth defects and maternal and infant outcomes are unclear. Objectives This review updates and expands a previous Cochrane Review assessing the effects of periconceptional supplementation with folic acid to reduce neural tube defects (NTDs). We examined whether folate supplementation before and during early pregnancy can reduce neural tube and other birth defects (including cleft palate) without causing adverse outcomes for mothers or babies. Search methods We searched the Cochrane Pregnancy and Childbirth Group’s Trials Register (July 2010). Additionally, we searched the international clinical trials registry platform and contacted relevant organisations to identify ongoing and unpublished studies. Selection criteria We included all randomised or quasi-randomised trials evaluating the effect of periconceptional folate supplementation alone, or in combination with other vitamins and minerals, in women independent of age and parity. Data collection and analysis We assessed trials for methodological quality using the standard Cochrane criteria. Two authors independently assessed the trials for inclusion, one author extracted data and a second checked for accuracy. Main results Five trials involving 6105 women (1949 with a history of a pregnancy affected by a NTD and 4156 with no history of NTDs) were included. Overall, the results are consistent in showing a protective effect of daily folic acid supplementation (alone or in combination with other vitamins and minerals) in preventing NTDs compared with no interventions/placebo or vitamins and minerals without folic acid (risk ratio (RR) 0.28, 95% confidence interval (CI) 0.15 to 0.52). Only one study assessed the incidence of NTDs and the effect was not statistically significant (RR 0.08, 95

  12. Maternal smoking during pregnancy and birth defects in children: a systematic review with meta-analysis

    Directory of Open Access Journals (Sweden)

    Dilvania Nicoletti

    2014-12-01

    Full Text Available This systematic review aimed to investigate the association between maternal smoking during pregnancy and birth defects in children. We performed an electronic search of observational studies in the databases ovid MEDLINE (1950 to April 2010, LILACS and SciELO. We included 188 studies with a total of 13,564,914 participants (192,655 cases. Significant positive associations were found between maternal smoking and birth defects in the following body systems: cardiovascular (OR: 1.11; 95%CI: 1.03-1.19, digestive (OR: 1.18; 95%CI: 1.07-1.30, musculoskeletal (OR: 1.27; 95%CI: 1.16-1.39 and face and neck (OR: 1.28; 95%CI: 1.19-1.37. The strength of association between maternal smoking and birth defects measured by the OR (95%CI is significantly related to the amount of cigarettes smoked daily (χ2 = 12.1; df = 2; p = 0.002. In conclusion, maternal smoking during pregnancy is associated with congenital malformations in children and this association is dose-dependent.

  13. Advanced molecular and cytogenetic technologies in birth defect diagnosis and prevention.

    Science.gov (United States)

    Li, Marilyn M

    2005-02-18

    Fluorescence in situ hybridization (FISH) has become an important diagnostic tool as an adjunct to classical cytogenetics. FISH utilizes DNA probes comprised of specific nucleic acid sequences tagged with fluorescent molecules to identify the number and location of specific DNA sequences in human cells. These probes can be used to determine various numerical and structural chromosomal aberrations, in many cases, gene dosage and/or structure alterations. Chromosomal abnormalities are responsible for a considerable number of birth defects, and more than 50% of spontaneous abortions. These numbers have been significantly higher since the advent of FISH technology that allows the detection of submicroscopic chromosome alterations. The clinic application of FISH technology in postnatal, prenatal, and preimplantation diagnoses has been playing an important role in the diagnosis and prevention of birth defects. As new technologies evolve, more and more new FISH techniques-such as subtelomeric FISH, multicolor FISH (M-FISH), comparative genomic hybridization (CGH), and microarray-are used in clinical diagnoses, the role of FISH technology in both research and clinical aspects of birth defects will surely continue to expand.

  14. Comparison of the four proposed Apgar scoring systems in the assessment of birth asphyxia and adverse early neurologic outcomes.

    Science.gov (United States)

    Dalili, Hosein; Nili, Firouzeh; Sheikh, Mahdi; Hardani, Amir Kamal; Shariat, Mamak; Nayeri, Fatemeh

    2015-01-01

    To compare the Conventional, Specified, Expanded and Combined Apgar scoring systems in predicting birth asphyxia and the adverse early neurologic outcomes. This prospective cohort study was conducted on 464 admitted neonates. In the delivery room, after delivery the umbilical cord was double clamped and a blood samples was obtained from the umbilical artery for blood gas analysis, meanwhile on the 1- , 5- and 10- minutes Conventional, Specified, Expanded, and Combined Apgar scores were recorded. Then the neonates were followed and intracranial ultrasound imaging was performed, and the following information were recorded: the occurrence of birth asphyxia, hypoxic Ischemic Encephalopathy (HIE), intraventricular hemorrhage (IVH), and neonatal seizure. The Combined-Apgar score had the highest sensitivity (97%) and specificity (99%) in predicting birth asphyxia, followed by the Specified-Apgar score that was also highly sensitive (95%) and specific (97%). The Expanded-Apgar score was highly specific (95%) but not sensitive (67%) and the Conventional-Apgar score had the lowest sensitivity (81%) and low specificity (81%) in predicting birth asphyxia. When adjusted for gestational age, only the low 5-minute Combined-Apgar score was independently associated with the occurrence of HIE (B = 1.61, P = 0.02) and IVH (B = 2.8, P = 0.01). The newly proposed Combined-Apgar score is highly sensitive and specific in predicting birth asphyxia and also is a good predictor of the occurrence of HIE and IVH in asphyxiated neonates.

  15. Birth Defects

    Science.gov (United States)

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  16. Association Between Infant Mortality Attributable to Birth Defects and Payment Source for Delivery - United States, 2011-2013.

    Science.gov (United States)

    Almli, Lynn M; Alter, Caroline C; Russell, Rebecca B; Tinker, Sarah C; Howards, Penelope P; Cragan, Janet; Petersen, Emily; Carrino, Gerard E; Reefhuis, Jennita

    2017-01-27

    Birth defects are a leading cause of infant mortality in the United States (1), accounting for approximately 20% of infant deaths. The rate of infant mortality attributable to birth defects (IMBD) in the United States in 2014 was 11.9 per 10,000 live births (1). Rates of IMBD differ by race/ethnicity (2), age group at death (2), and gestational age at birth (3). Insurance type is associated with survival among infants with congenital heart defects (CHD) (4). In 2003, a checkbox indicating principal payment source for delivery was added to the U.S. standard birth certificate (5). To assess IMBD by payment source for delivery, CDC analyzed linked U.S. birth/infant death data for 2011-2013 from states that adopted the 2003 revision of the birth certificate. The results indicated that IMBD rates for preterm (infants whose deliveries were covered by Medicaid were higher during the neonatal (infants whose deliveries were covered by private insurance. Similar differences in postneonatal mortality were observed for the three most common categories of birth defects listed as a cause of death: central nervous system (CNS) defects, CHD, and chromosomal abnormalities. Strategies to ensure quality of care and access to care might reduce the difference between deliveries covered by Medicaid and those covered by private insurance.

  17. Association between maternal occupational exposure to organic solvents and congenital heart defects, National Birth Defects Prevention Study, 1997-2002.

    Science.gov (United States)

    Gilboa, Suzanne M; Desrosiers, Tania A; Lawson, Christina; Lupo, Philip J; Riehle-Colarusso, Tiffany J; Stewart, Patricia A; van Wijngaarden, Edwin; Waters, Martha A; Correa, Adolfo

    2012-09-01

    To examine the relation between congenital heart defects (CHDs) in offspring and estimated maternal occupational exposure to chlorinated solvents, aromatic solvents and Stoddard solvent during the period from 1 month before conception through the first trimester. The study population included mothers of infants with simple isolated CHDs and mothers of control infants who delivered from 1997 through 2002 and participated in the National Birth Defects Prevention Study. Two methods to assess occupational solvent exposure were employed: an expert consensus-based approach and a literature-based approach. Multiple logistic regression was used to calculate adjusted ORs and 95% CIs for the association between solvent classes and CHDs. 2951 control mothers and 2047 CHD case mothers were included. Using the consensus-based approach, associations were observed for exposure to any solvent and any chlorinated solvent with perimembranous ventricular septal defects (OR 1.6, 95% CI 1.0 to 2.6 and OR 1.7, 95% CI 1.0 to 2.8, respectively). Using the literature-based approach, associations were observed for: any solvent exposure with aortic stenosis (OR 2.1, 95% CI 1.1 to 4.1) and Stoddard solvent exposure with d-transposition of the great arteries (OR 2.0, 95% CI 1.0 to 4.2), right ventricular outflow tract obstruction defects (OR 1.9, 95% CI 1.1 to 3.3) and pulmonary valve stenosis (OR 2.1, 95% CI 1.1 to 3.8). The authors found evidence of associations between occupational exposure to solvents and several types of CHDs. These results should be interpreted in light of the potential for misclassification of exposure.

  18. Association between maternal occupational exposure to organic solvents and congenital heart defects, National Birth Defects Prevention Study, 1997–2002

    Science.gov (United States)

    Gilboa, SM; Desrosiers, TA; Lawson, CC; Lupo, PJ; Riehle-Colarusso, T; Stewart, PA; van Wijngaarden, E; Waters, MA; Correa, A

    2015-01-01

    Objective To examine the relation between congenital heart defects (CHDs) in offspring and estimated maternal occupational exposure to chlorinated solvents, aromatic solvents, and Stoddard solvent during the period from one month before conception through the first trimester. Methods The study population included mothers of infants with simple, isolated CHDs and mothers of control infants who delivered from 1997 through 2002 and participated in the National Birth Defects Prevention Study. Two methods to assess occupational solvent exposure were employed: an expert consensus-based approach and a literature-based approach. Multiple logistic regression was used to calculate adjusted odds ratios (OR) and 95% confidence intervals (CI) for the association between solvent classes and CHDs. Results 2,951 control mothers and 2,047 CHD case mothers were included. Using the consensus-based approach, associations were observed for exposure to any solvent and any chlorinated solvent with perimembranous ventricular septal defects (OR 1.6; 95% CI 1.0 to 2.6 and OR 1.7; 95% CI 1.0 to 2.8 respectively). Using the literature-based approach, associations were observed for: any solvent exposure with aortic stenosis (OR 2.1; 95% CI 1.1 to 4.1); and Stoddard solvent exposure with d-transposition of the great arteries (OR 2.0; 95% CI 1.0 to 4.2), right ventricular outflow tract obstruction defects (OR 1.9; 95% CI 1.1 to 3.3), and pulmonary valve stenosis (OR 2.1; 95% CI 1.1 to 3.8). Conclusions We found evidence of associations between occupational exposure to solvents and several types of CHDs. These results should be interpreted in light of the potential for misclassification of exposure. PMID:22811060

  19. Birth Defects in Gaza: Prevalence, Types, Familiarity and Correlation with Environmental Factors

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    Raneem Al Shawwa

    2012-05-01

    Full Text Available This is the first report of registration at birth, and of incidence of major structural birth defects (BD obtained in Gaza at Al Shifa Hospital, where 28% of total births in Gaza Strip occur. Doctors registered 4,027 deliveries, with a protocol comprehensive of clinical, demographic, kin and environmental questions. Prevalence of BD is 14/1,000, without association with intermarriage or gender of the child. Prevalence of late miscarriages and still births are respectively 23.3/1,000 and 7.4/1,000, and of premature births 19.6/1,000. Couples with a BD child have about 10 times higher frequency of recurrence of a BD in their progeny than those with normal children, but none of their 694 siblings and only 10/1,000 of their 1,423 progeny had BD, similar to the frequency in general population. These data suggest occurrence of novel genetic and epigenetic events in determination of BD. Children with BD were born with higher frequency (p < 0 001 in families where one or both parents were under “white phosphorus” attack, that in the general population. Bombing of the family home and removal of the rubble were also frequently reported by couples with BD occurrence. These data suggests a causative/favoring role of acute exposure of parents to the weapons-associated contaminants, and/or of their chronic exposure from their persistence in the environment on the embryonic development of their children.

  20. Maternal stressors and social support as risks for delivering babies with structural birth defects.

    Science.gov (United States)

    Carmichael, Suzan L; Ma, Chen; Tinker, Sarah; Rasmussen, Sonia A; Shaw, Gary M

    2014-07-01

    We examined the association of maternal stressful life events and social support with risks of birth defects using National Birth Defects Prevention Study data, a population-based case-control study. We examined seven stressful life events and three social support questions applicable to the periconceptional period, among mothers of 552 cases with neural tube defects (NTDs), 413 cleft palate (CP), 797 cleft lip ± cleft palate (CLP), 189 d-transposition of the great arteries (dTGA), 311 tetralogy of Fallot (TOF), and 2974 non-malformed controls. A stressful life events index equalled the sum of 'yes' responses to the seven questions. Social support questions were also summed to form an index. Data were analyzed using logistic regression to estimate odds ratios (OR) and 95% confidence intervals (CI), adjusted for maternal race-ethnicity, age, education, body mass index, smoking, drinking, and intake of vitamin supplements. Associations with the stress index tended to be higher with higher scores, but few 95% CIs excluded one. A four-point increase in the index was moderately associated with NTDs (OR 1.5, [95% CI 1.1, 2.0]) and CLP (OR 1.3, [95% CI 1.0, 1.7]). The social support index tended to be associated with reduced risk but most 95% CIs included one, with the exception of dTGA (OR for a score of 3 vs 0 was 0.5 [95% CI 0.3, 0.8]). Maternal periconceptional stressful life events, social support, and the two factors in combination were at most modestly, if at all, associated with risks of the studied birth defects. © 2014 John Wiley & Sons Ltd.

  1. Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.

    Science.gov (United States)

    Allagh, Komal Preet; Shamanna, B R; Murthy, Gudlavalleti V S; Ness, Andy R; Doyle, Pat; Neogi, Sutapa B; Pant, Hira B

    2015-01-01

    In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts. A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India). Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement. The overall pooled birth prevalence (random effect) of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9). The overall pooled birth prevalence (random effect) of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5). Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn. The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India.

  2. Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Komal Preet Allagh

    Full Text Available In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts.A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India. Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement.The overall pooled birth prevalence (random effect of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9. The overall pooled birth prevalence (random effect of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5. Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn.The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India.

  3. Birth Prevalence of Neural Tube Defects and Orofacial Clefts in India: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Allagh, Komal Preet; Shamanna, B. R.; Murthy, Gudlavalleti V. S.; Ness, Andy R.; Doyle, Pat; Neogi, Sutapa B.; Pant, Hira B.

    2015-01-01

    Background In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts. Methods A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India). Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement. Results The overall pooled birth prevalence (random effect) of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9). The overall pooled birth prevalence (random effect) of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5). Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn. Conclusion The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India. PMID:25768737

  4. Baseline Prevalence of Birth Defects Associated with Congenital Zika Virus Infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014.

    Science.gov (United States)

    Cragan, Janet D; Mai, Cara T; Petersen, Emily E; Liberman, Rebecca F; Forestieri, Nina E; Stevens, Alissa C; Delaney, Augustina; Dawson, April L; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Dunn, Julie E; Higgins, Cathleen A; Meyer, Robert E; Williams, Tonya; Polen, Kara N D; Newsome, Kim; Reynolds, Megan; Isenburg, Jennifer; Gilboa, Suzanne M; Meaney-Delman, Dana M; Moore, Cynthia A; Boyle, Coleen A; Honein, Margaret A

    2017-03-03

    Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations † (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.

  5. Minor neurological dysfunction from birth to 12 years. II : Puberty is related to decreased dysfunction

    NARCIS (Netherlands)

    Lunsing, R J; Hadders-Algra, M; Huisjes, H J; Touwen, B C

    1992-01-01

    To determine whether puberty is related to decreased minor neurological dysfunction (MND), 174 children from the Groningen Perinatal Project who had had MND at nine years were re-examined at 12 years. No signs of MND could be demonstrated in 39 of the children, 33 of whom showed at least three signs

  6. MINOR NEUROLOGICAL DYSFUNCTION FROM BIRTH TO 12 YEARS .2. PUBERTY IS RELATED TO DECREASED DYSFUNCTION

    NARCIS (Netherlands)

    LUNSING, RJ; HADDERSALGRA, M; HUISJES, HJ; TOUWEN, BCL

    To determine whether puberty is related to decreased minor neurological dysfunction (MND), 174 children from the Groningen Perinatal Project who had had MND at nine years were re-examined at 12 years. No signs of MND could be demonstrated in 39 of the children, 33 of whom showed at least three signs

  7. Neurologic manifestations of achondroplasia.

    Science.gov (United States)

    Hecht, Jacqueline T; Bodensteiner, John B; Butler, Ian J

    2014-01-01

    Achondroplasia is the best described and most common form of the congenital short-limbed dwarfing conditions. Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20000-30000 live-born infants. Achondroplasia is inherited as an autosomal dominant condition, although 80% of cases occur sporadically as new events in their families. Achondroplasia is caused, in virtually all of the cases, by a G380R mutation in fibroblast growth factor receptor 3 (FGFR3). Patients with achondroplasia should be evaluated by a multidisciplinary team of clinicians including geneticists, neurologists, and orthopedists, since there are numerous bony and neurological complications. The most severe complication results from craniocervical stenosis and medullary and upper spinal cord compression, which can have devastating and even lethal sequelae during early childhood. In subsequent decades, including adolescence, spinal cord and nerve compression are more prominent. The neurological complications of achondroplasia have been recognized in adults for more than a century and are attributed to bony defects, connective tissue structures, or both. Similar neurological complications are now appreciated in infants, young children, and teenagers with achondroplasia. Defective connective tissue elements in achondroplasia frequently lead to ligamentous laxity, which can aggravate the complications associated with bony stenosis. Bony abnormalities are known to cause neurological morbidity and lead to a shortened lifespan. Neurological complications associated with achondroplasia are reviewed, including recommendations for the evaluation and management of these clinical problems. © 2014 Elsevier B.V. All rights reserved.

  8. Cell-specific deletion of glucosylceramide synthase in brain leads to severe neural defects after birth

    Science.gov (United States)

    Jennemann, Richard; Sandhoff, Roger; Wang, Shijun; Kiss, Eva; Gretz, Norbert; Zuliani, Cecilia; Martin-Villalba, Ana; Jäger, Richard; Schorle, Hubert; Kenzelmann, Marc; Bonrouhi, Mahnaz; Wiegandt, Herbert; Gröne, Hermann-Josef

    2005-01-01

    Sialic acid-containing glycosphingolipids, i.e., gangliosides, constitute a major component of neuronal cells and are thought to be essential for brain function. UDP-glucose:ceramide glucosyltransferase (Ugcg) catalyzes the initial step of glycosphingolipid (GSL) biosynthesis. To gain insight into the role of GSLs in brain development and function, a cell-specific disruption of Ugcg was performed as indicated by the absence of virtually all glucosylceramide-based GSLs. Shortly after birth, mice showed dysfunction of cerebellum and peripheral nerves, associated with structural defects. Axon branching of Purkinje cells was significantly reduced. In primary cultures of neurons, dendritic complexity was clearly diminished, and pruning occurred early. Myelin sheaths of peripheral nerves were broadened and focally severely disorganized. GSL deficiency also led to a down-regulation of gene expression sets involved in brain development and homeostasis. Mice died ≈3 weeks after birth. These results imply that GSLs are essential for brain maturation. PMID:16109770

  9. High risk of birth defects with PKU in Mast-e Ali village, Kermanshah province

    Directory of Open Access Journals (Sweden)

    Keyvan Moradi

    2014-04-01

    Full Text Available According to the study conducted on phenylketonuria (PKU patients in Kermanshah province, there were at least 10 PKU patients in Firuzabad district. The prevalence of the disease and frequency of carriers among the population of Mast-e Ali village, a village in Firuzabad district, were calculated to be 1 in 80 and 1 in 5, respectively. This is one of the highest frequencies reported for the prevalence of PKU to date. These findings introduce Mast-e Ali village as a small region in the high risk of birth defects with PKU. It seems that consanguinity has had a major impact on these findings.

  10. Fetal alcohol syndrome: cardiac birth defects in mice and prevention with folate.

    Science.gov (United States)

    Serrano, Maria; Han, Mingda; Brinez, Pilar; Linask, Kersti K

    2010-07-01

    Alcohol (ethanol) consumption during pregnancy is linked to congenital heart defects that are associated with fetal alcohol syndrome. Recent reports have associated ethanol exposure with the Wnt/beta-catenin pathway. Therefore, we defined whether ethanol affects Wnt/beta-catenin signaling during cardiac cell specification. Pregnant mice on embryonic day 6.75 during gastrulation were exposed by an intraperitoneal injection to a binge-drinking dose of ethanol. Folic acid supplementation of mouse diet was tested for the prevention of ethanol-induced cardiac birth defects. Acute ethanol exposure induced myocardial wall changes and atrioventricular and semilunar valve defects, which was determined by echocardiography on embryonic day 15.5. A high folate diet prevented the ethanol-induced cardiac defects. Ethanol exposure in avian embryos suppressed 2 key Wnt-modulated genes that are involved in cardiac induction; folic acid rescued normal gene expression. Folic acid supplementation alone or with myoinositol prevented alcohol potentiation of Wnt/beta-catenin signaling that allowed normal gene activation and cardiogenesis. Copyright (c) 2010 Mosby, Inc. All rights reserved.

  11. Assessing the Practices of Population-Based Birth Defects Surveillance Programs Using the CDC Strategic Framework, 2012.

    Science.gov (United States)

    Mai, Cara T; Correa, Adolfo; Kirby, Russell S; Rosenberg, Deborah; Petros, Michael; Fagen, Michael C

    2015-01-01

    We assessed the practices of U.S. population-based birth defects surveillance programs in addressing current and emergent public health needs. Using the CDC Strategic Framework considerations for public health surveillance (i.e., lexicon and standards, legal authority, technological advances, workforce, and analytic capacity), during 2012 and 2013, we conducted a survey of all U.S. operational birth defects programs (n=43) soliciting information on legal authorities, case definition and clinical information collected, types of data sources, and workforce staffing. In addition, we conducted semi-structured interviews with nine program directors to further understand how programs are addressing current and emergent needs. Three-quarters of birth defects surveillance programs used national guidelines for case definition. Most birth defects surveillance programs (86%) had a legislative mandate to conduct surveillance, and many relied on a range of prenatal, postnatal, public health, and pediatric data sources for case ascertainment. Programs reported that the transition from paper to electronic formats was altering the information collected, offering an opportunity for remote access to improve timeliness for case review and verification. Programs also reported the growth of pooled, multistate data collaborations as a positive development. Needs identified included ongoing workforce development to improve information technology and analytic skills, more emphasis on data utility and birth defects-specific standards for health information exchange, and support to develop channels for sharing ideas on data interpretation and dissemination. The CDC Strategic Framework provided a useful tool to determine the birth defects surveillance areas with positive developments, such as multi-state collaborative epidemiologic studies, and areas for improvement, such as preparation for health information exchanges and workforce database and analytic skills. Our findings may inform

  12. Isotretinoin, pregnancies, abortions and birth defects: a population-based perspective

    Science.gov (United States)

    Bérard, Anick; Azoulay, Laurent; Koren, Gideon; Blais, Lucie; Perreault, Sylvie; Oraichi, Driss

    2007-01-01

    What is already known about this subject As of now, no population-based data exist on the incidence of pregnancy, elective abortions, and birth defects while on isotretinoin. From surveys or interventional studies, it is known that pregnancy rates while on isotretinoin are comparable to the baseline rate, and that birth defect rates associated with first-trimester exposure are 10 times greater than in the general population. Given that women decide to terminate pregnancies based on the available data, population-based estimates are needed. What this study adds This first non-interventional population-based study on the risk of pregnancy while being exposed to isotretinoin has shown that the rate of pregnancy is four times greater than what has been published to date (32.7/1000 person-years). Any pregnancy while using isotretinoin is the result of a failure of pregnancy prevention strategies, hence, thus far, pregnancy prevention programmes have failed. The rate of elective abortions is much higher than previously reported (84%). Women of a lower socio-economic level and high users of healthcare services are more likely to become pregnant while on isotretinoin, suggesting that high use of health services increase the opportunity of having a prescription for isotretinoin or of having a pregnancy diagnosis. Aims To estimate the population-based incidence rates of pregnancy, spontaneous and elective abortions, and birth defects associated with isotretinoin use, and to determine predictors of pregnancy while on isotretinoin. Methods Using the RAMQ (medical and pharmaceutical data), MED-ECHO (hospitalizations) and ISQ (births and deaths) databases for the period 1984–2002, a cohort of 8609 women between 13 and 45 years of age and with a first prescription for isotretinoin (date of entry in the cohort) was identified. Women were eligible if they were insured by RAMQ for their medications at least 12 months before entry in the cohort and until 1 month after the end of

  13. A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease

    Science.gov (United States)

    Rodriguez-Gil, Jorge L.; Larson, Denise M.; Wassif, Christopher A.; Yanjanin, Nicole M.; Anderson, Stacie M.; Kirby, Martha R.; Trivedi, Niraj S.; Porter, Forbes D.; Pavan, William J.

    2013-01-01

    Mutations in individuals with the lysosomal storage disorder Niemann-Pick disease, type C1 (NPC1) are heterogeneous, not localized to specific protein domains, and not correlated to time of onset or disease severity. We demonstrate direct correlation of the time of neurological symptom onset with the severity of lysosomal defects in NPC1 patient-derived fibroblasts. This is a novel assay for NPC1 individuals that may be predictive of NPC1 disease progression and broadly applicable to other lysosomal disorders. PMID:23850077

  14. Are residents of mountain-top mining counties more likely to have infants with birth defects? The West Virginia experience.

    Science.gov (United States)

    Lamm, Steven H; Li, Ji; Robbins, Shayhan A; Dissen, Elisabeth; Chen, Rusan; Feinleib, Manning

    2015-02-01

    Pooled 1996 to 2003 birth certificate data for four central states in Appalachia indicated higher rates of infants with birth defects born to residents of counties with mountain-top mining (MTM) than born to residents of non-mining-counties (Ahern 2011). However, those analyses did not consider sources of uncertainty such as unbalanced distributions or quality of data. Quality issues have been a continuing problem with birth certificate analyses. We used 1990 to 2009 live birth certificate data for West Virginia to reassess this hypothesis. Forty-four hospitals contributed 98% of the MTM-county births and 95% of the non-mining-county births, of which six had more than 1000 births from both MTM and nonmining counties. Adjusted and stratified prevalence rate ratios (PRRs) were computed both by using Poisson regression and Mantel-Haenszel analysis. Unbalanced distribution of hospital births was observed by mining groups. The prevalence rate of infants with reported birth defects, higher in MTM-counties (0.021) than in non-mining-counties (0.015), yielded a significant crude PRR (cPRR = 1.43; 95% confidence interval [CI] = 1.36-1.52) but a nonsignificant hospital-adjusted PRR (adjPRR = 1.08; 95% CI = 0.97-1.20; p = 0.16) for the 44 hospitals. So did the six hospital data analysis ([cPRR = 2.39; 95% CI = 2.15-2.65] and [adjPRR = 1.01; 95% CI, 0.89-1.14; p = 0.87]). No increased risk of birth defects was observed for births from MTM-counties after adjustment for, or stratification by, hospital of birth. These results have consistently demonstrated that the reported association between birth defect rates and MTM coal mining was a consequence of data heterogeneity. The data do not demonstrate evidence of a "Mountain-top Mining" effect on the prevalence of infants with reported birth defects in WV. © 2014 Wiley Periodicals, Inc.

  15. Assessing bottled water nitrate concentrations to evaluate total drinking water nitrate exposure and risk of birth defects.

    Science.gov (United States)

    Weyer, Peter J; Brender, Jean D; Romitti, Paul A; Kantamneni, Jiji R; Crawford, David; Sharkey, Joseph R; Shinde, Mayura; Horel, Scott A; Vuong, Ann M; Langlois, Peter H

    2014-12-01

    Previous epidemiologic studies of maternal exposure to drinking water nitrate did not account for bottled water consumption. The objective of this National Birth Defects Prevention Study (NBDPS) (USA) analysis was to assess the impact of bottled water use on the relation between maternal exposure to drinking water nitrate and selected birth defects in infants born during 1997-2005. Prenatal residences of 1,410 mothers reporting exclusive bottled water use were geocoded and mapped; 326 bottled water samples were collected and analyzed using Environmental Protection Agency Method 300.0. Median bottled water nitrate concentrations were assigned by community; mothers' overall intake of nitrate in mg/day from drinking water was calculated. Odds ratios for neural tube defects, limb deficiencies, oral cleft defects, and heart defects were estimated using mixed-effects models for logistic regression. Odds ratios (95% CIs) for the highest exposure group in offspring of mothers reporting exclusive use of bottled water were: neural tube defects [1.42 (0.51, 3.99)], limb deficiencies [1.86 (0.51, 6.80)], oral clefts [1.43 (0.61, 3.31)], and heart defects [2.13, (0.87, 5.17)]. Bottled water nitrate had no appreciable impact on risk for birth defects in the NBDPS.

  16. Epidemiological Surveillance of Birth Defects Compatible with Thalidomide Embryopathy in Brazil

    Science.gov (United States)

    Vianna, Fernanda Sales Luiz; Lopez-Camelo, Jorge S.; Leite, Júlio César Louguercio; Sanseverino, Maria Teresa Vieira; da Graça Dutra, Maria; Castilla, Eduardo E.; Schüler-Faccini, Lavínia

    2011-01-01

    The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy (TE) because of leprosy prevalence, availability of thalidomide, and deficiencies in the control of drug dispensation. Our objective was to implement a system of proactive surveillance to identify birth defects compatible with TE. Along one year, newborns with LRD were assessed in the Brazilian hospitals participating in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC). A phenotype of LRD called thalidomide embryopathy phenotype (TEP) was established for surveillance. Children with TEP born between the years 2000–2008 were monitored, and during the 2007–2008 period we clinically investigated in greater detail all cases with TEP (proactive period). The period from 1982 to 1999 was defined as the baseline period for the cumulative sum statistics. The frequency of TEP during the surveillance period, at 3.10/10,000 births (CI 95%: 2.50–3.70), was significantly higher than that observed in the baseline period (1.92/10,000 births; CI 95%: 1.60–2.20), and not uniformly distributed across different Brazilian regions. During the proactive surveillance (2007–2008), two cases of suspected TE were identified, although the two mothers had denied the use of the drug during pregnancy. Our results suggest that TEP has probably increased in recent years, which coincides with the period of greater thalidomide availability. Our proactive surveillance identified two newborns with suspected TE, proving to be a sensitive tool to detect TE. The high frequency of leprosy and the large use of thalidomide reinforce the need for a continuous monitoring of TEP across Brazil. PMID:21754997

  17. Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil.

    Directory of Open Access Journals (Sweden)

    Fernanda Sales Luiz Vianna

    Full Text Available The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD, among other malformations. In Brazil, there are still babies born with thalidomide embryopathy (TE because of leprosy prevalence, availability of thalidomide, and deficiencies in the control of drug dispensation. Our objective was to implement a system of proactive surveillance to identify birth defects compatible with TE. Along one year, newborns with LRD were assessed in the Brazilian hospitals participating in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC. A phenotype of LRD called thalidomide embryopathy phenotype (TEP was established for surveillance. Children with TEP born between the years 2000-2008 were monitored, and during the 2007-2008 period we clinically investigated in greater detail all cases with TEP (proactive period. The period from 1982 to 1999 was defined as the baseline period for the cumulative sum statistics. The frequency of TEP during the surveillance period, at 3.10/10,000 births (CI 95%: 2.50-3.70, was significantly higher than that observed in the baseline period (1.92/10,000 births; CI 95%: 1.60-2.20, and not uniformly distributed across different Brazilian regions. During the proactive surveillance (2007-2008, two cases of suspected TE were identified, although the two mothers had denied the use of the drug during pregnancy. Our results suggest that TEP has probably increased in recent years, which coincides with the period of greater thalidomide availability. Our proactive surveillance identified two newborns with suspected TE, proving to be a sensitive tool to detect TE. The high frequency of leprosy and the large use of thalidomide reinforce the need for a continuous monitoring of TEP across Brazil.

  18. Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil.

    Science.gov (United States)

    Vianna, Fernanda Sales Luiz; Lopez-Camelo, Jorge S; Leite, Júlio César Louguercio; Sanseverino, Maria Teresa Vieira; Dutra, Maria da Graça; Castilla, Eduardo E; Schüler-Faccini, Lavínia

    2011-01-01

    The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy (TE) because of leprosy prevalence, availability of thalidomide, and deficiencies in the control of drug dispensation. Our objective was to implement a system of proactive surveillance to identify birth defects compatible with TE. Along one year, newborns with LRD were assessed in the Brazilian hospitals participating in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC). A phenotype of LRD called thalidomide embryopathy phenotype (TEP) was established for surveillance. Children with TEP born between the years 2000-2008 were monitored, and during the 2007-2008 period we clinically investigated in greater detail all cases with TEP (proactive period). The period from 1982 to 1999 was defined as the baseline period for the cumulative sum statistics. The frequency of TEP during the surveillance period, at 3.10/10,000 births (CI 95%: 2.50-3.70), was significantly higher than that observed in the baseline period (1.92/10,000 births; CI 95%: 1.60-2.20), and not uniformly distributed across different Brazilian regions. During the proactive surveillance (2007-2008), two cases of suspected TE were identified, although the two mothers had denied the use of the drug during pregnancy. Our results suggest that TEP has probably increased in recent years, which coincides with the period of greater thalidomide availability. Our proactive surveillance identified two newborns with suspected TE, proving to be a sensitive tool to detect TE. The high frequency of leprosy and the large use of thalidomide reinforce the need for a continuous monitoring of TEP across Brazil.

  19. HOSPITAL BASED BIRTH DEFECTS SURVEILLANCE WITH SPECIAL REFERENCE TO NEURAL TUBE DEFECTS: A STUDY OF ONE YEAR STATISTICS FROM A TERTIARY CARE GOVERNMENT TEACHING HOSPITAL OF NORTH COASTAL ANDHRA PRADESH

    Directory of Open Access Journals (Sweden)

    Manda Venkata

    2016-05-01

    Full Text Available INTRODUCTION Birth defects (also called congenital anomalies are defined as abnormalities of both structures or functions that are present at birth and are of prenatal origin. They contribute to a significant proportion of perinatal, neonatal & childhood mortality as well as morbidity. AIM To study at birth, prevalence of selected birth defects among babies delivered at King George Hospital, Visakhapatnam, from Jan 2015 to December 2015, appropriate management strategy of the most common neural tube defects. RESULTS Among the total deliveries of 6088 in the above period, the incidences of birth defects were 88 (1.44%, the most common among them were neural tube defects. CONCLUSION Birth defect surveillance and standardisation of the data is essential to understand the public health burden and to design appropriate prenatal prevention programs.

  20. Birth defects data for 8 California counties by county, maternal age, maternal race/ethnicity, and infant gender for the years 2000-2006.

    Data.gov (United States)

    California Environmental Health Tracking Program — This dataset contains counts, rates, and confidence intervals of 12 selected birth defects among live births during 2000-2006 within eight California counties:...

  1. Effects and safety of periconceptional oral folate supplementation for preventing birth defects.

    Science.gov (United States)

    De-Regil, Luz Maria; Peña-Rosas, Juan Pablo; Fernández-Gaxiola, Ana C; Rayco-Solon, Pura

    2015-12-14

    It has been reported that neural tube defects (NTD) can be prevented with periconceptional folic acid supplementation. The effects of different doses, forms and schemes of folate supplementation for the prevention of other birth defects and maternal and infant outcomes are unclear. This review aims to examine whether periconceptional folate supplementation reduces the risk of neural tube and other congenital anomalies (including cleft palate) without causing adverse outcomes in mothers or babies. This is an update of a previously published Cochrane review on this topic. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 August 2015). Additionally, we searched the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (31 August 2015) and contacted relevant organisations to identify ongoing and unpublished studies. We included all randomised or quasi-randomised trials evaluating the effect of periconceptional folate supplementation alone, or in combination with other vitamins and minerals, in women independent of age and parity. Two review authors independently assessed the eligibility of studies against the inclusion criteria, extracted data from included studies, checked data entry for accuracy and assessed the risk of bias of the included studies. We assessed the quality of the body of evidence using the GRADE approach. Five trials involving 7391 women (2033 with a history of a pregnancy affected by a NTD and 5358 with no history of NTDs) were included. Four comparisons were made: 1) supplementation with any folate versus no intervention, placebo or other micronutrients without folate (five trials); 2) supplementation with folic acid alone versus no treatment or placebo (one trial); 3) supplementation with folate plus other micronutrients versus other micronutrients without folate (four trials); and 4) supplementation with folate plus other micronutrients versus the same other micronutrients without

  2. Periconceptional Risk Factors for Birth Defects among Younger and Older Teen Mothers.

    Science.gov (United States)

    Case, Amy P; Hoyt, Adrienne T; Canfield, Mark A; Wilkinson, Anna V

    2015-08-01

    We sought to determine whether selected periconceptional health behaviors that influence risk for birth defects differ between older and younger adolescents and whether pregnancy intention predicts more positive preconception health behaviors among teens. We analyzed interview responses from 954 adolescent control group participants from the National Birth Defects Prevention Study who delivered live infants during 1997-2007. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were calculated for factors of interest by age categories (13-15, 16-17, and 18 years, relative to 19 years). To construct a composite periconceptional behavior index, we summed the following healthy behaviors: nonsmoker, nondrinker, folic acid supplementation, and eating 5 or more servings of fruits and vegetables per day. Analyses indicated that women in the youngest group (13-15 years of age) were more likely to be Hispanic (aOR 2.83, 95% CI 1.40-5.70) and less likely to engage in some unhealthy pregnancy-related behaviors compared with 19-year-olds, such as smoking (aOR 0.45, 95% CI 0.20-0.99) and being overweight or obese (aOR 0.32, 95% CI 0.16-0.61). However, they were also less likely to have taken periconceptional folic acid (aOR 0.44, 95% CI 0.21-0.90). About one-third of teen mothers indicated that their pregnancies had been intended. Among 18- and 19-year-olds, this predicted a higher mean value for the composite periconceptional behavior index (2.30 versus 1.94, P ≤ .01). Teen mothers are not a homogeneous group. Each age subgroup presents varied demographic and behavioral factors that put them at varying levels of risk for birth defects. Furthermore, caregivers should not assume that teens do not plan pregnancies or that they need not be informed of the importance of periconceptional health. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  3. Effect of consanguinity on birth defects in Saudi women; results from a nested case-control study

    DEFF Research Database (Denmark)

    Majeed-Saidan, Muhammad Ali; Ammari, Amer N; AlHashem, Amal M

    2015-01-01

    BACKGROUND: The role of consanguinity in the etiology of structural birth defects outside of chromosomal and inherited disorders has always been debated. We studied the independent role of consanguinity on birth defects in Saudi women with a high prevalence of consanguineous marriages. METHODS......: This case and control study was nested within a 3-year prospective cohort study to examine patterns of fetal and neonatal malformations in Saudi women at Prince Sultan Military Medical City (PSMMC), Riyadh -Saudi Arabia. Consanguineous marriages were defined as marriages with first or second cousins...

  4. Defects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutants.

    Directory of Open Access Journals (Sweden)

    Changchun Chen

    2009-07-01

    Full Text Available Elongator is a six subunit protein complex, conserved from yeast to humans. Mutations in the human Elongator homologue, hELP1, are associated with the neurological disease familial dysautonomia. However, how Elongator functions in metazoans, and how the human mutations affect neural functions is incompletely understood. Here we show that in Caenorhabditis elegans, ELPC-1 and ELPC-3, components of the Elongator complex, are required for the formation of the 5-carbamoylmethyl and 5-methylcarboxymethyl side chains of wobble uridines in tRNA. The lack of these modifications leads to defects in translation in C. elegans. ELPC-1::GFP and ELPC-3::GFP reporters are strongly expressed in a subset of chemosensory neurons required for salt chemotaxis learning. elpc-1 or elpc-3 gene inactivation causes a defect in this process, associated with a posttranscriptional reduction of neuropeptide and a decreased accumulation of acetylcholine in the synaptic cleft. elpc-1 and elpc-3 mutations are synthetic lethal together with those in tuc-1, which is required for thiolation of tRNAs having the 5'methylcarboxymethyl side chain. elpc-1; tuc-1 and elpc-3; tuc-1 double mutants display developmental defects. Our results suggest that, by its effect on tRNA modification, Elongator promotes both neural function and development.

  5. Epidemiology of twinning in the National Birth Defects Prevention Study, 1997–2007

    Science.gov (United States)

    Dawson, April L.; Tinker, Sarah C.; Jamieson, Denise J.; Hobbs, Charlotte A.; Rasmussen, Sonja A.; Reefhuis, Jennita

    2015-01-01

    Background Our objective was to evaluate associations between twinning and maternal demographic factors and periconceptional exposures among infants with and without orofacial clefts. Methods We used data from the National Birth Defects Prevention Study; 228 twins and 8,242 singletons without birth defects (controls), and 117 twins and 2,859 singletons with orofacial clefts, born 1997–2007, were included in the analyses. Because of the occurrence of twinning due to the use of assisted reproductive technologies, logistic regression models were computed to estimate odds ratios (OR) and 95% confidence intervals (CIs) for each exposure, stratified by fertility treatment use. To evaluate factors by zygosity, we used sex-pairing data and a simulation approach to estimate the zygosity of like-sex twin pairs for unassisted conceptions. Results Among control mothers who did not use fertility treatments, predictors of twinning included non-Hispanic black maternal race (adjusted OR: 1.6, 95% CI: 1.0–2.4), and tobacco smoking (1.6, 1.1–2.4). Among control mothers who used fertility treatments, older maternal age, higher income, and state of residence were associated with twinning. Associations were generally stronger among mothers of dizygotic (estimated) twins than monozygotic (estimated) twins. Results for mothers of infants with isolated orofacial clefts were similar to those of controls. Conclusion We observed an increased twinning frequency with increasing maternal age, but factors such as maternal race/ethnicity and socioeconomic status may also contribute. Among women receiving fertility treatments, factors associated with twinning suggested a relation with treatment specifics (e.g., treatment type and number of embryos implanted) and availability of insurance coverage. PMID:25359509

  6. CENTRAL NERVOUS SYSTEM BIRTH DEFECTS IN SURGICALLY TREATED INFANTS IN SARAJEVO REGION OF BOSNIA AND HERZEGOVINA

    Science.gov (United States)

    Aličelebić, Selma; Arslanagić, Alma; Mornjaković, Zakira

    2007-01-01

    Congenital anomalies of the central nervous system (CNS) are common. The prevalence of these anomalies shows considerable geographical variation and female predominance. The aim of this work was to obtain the frequency of different CNS congenital anomalies types and their sex distribution among cases hospitalized in a Department of Neurosurgery, University of Sarajevo Clinics Center, Bosnia and Herzegovina, during the period January 2001 to December 2004. Retrospective study was carried out on the basis of the clinical records. Standard methods of descriptive statistics were performed for the data analysis. A total of 103 cases were surgically treated in the period from 2001 through 2004. Out of that number 56 (54,4%) were female patients, while 47 (46,6%) were male patients. Seven different CNS birth defect types were found in this investigation. These were: spina bifida (42 cases or 40,78%), congenital hydrocephalus (35 cases or 33,98%), arachnoid cyst (15 cases or 14,56%), Dandy-Walker syndrome (5 cases or 4,85%), dermoid cyst (4 cases or 3,88%), one of Arnold-Chiari syndrome (0,98%) and one of encefalocele (0,98%). According to this investigation, CNS congenital birth defects were slightly higher in females (54,4%). The most frequent types were spina bifida (40,78%) both in females (22,33%) and in males (18,45%), hydrocephalus (33,98%) and arachnoid cyst (14,56%). The anomalies of the other organ systems, associated with CNS anomalies obtained in this investigation, were pes equinovarus, cheiloshisis, cardiomegalia and palatoshisis. They were found in six cases (5,82%), equal in both sexes. PMID:18039185

  7. Low birth weight and zygosity status is associated with defective muscle glycogen and glycogen synthase regulation in elderly twins

    DEFF Research Database (Denmark)

    Poulsen, Pernille; Wojtaszewski, Jørgen; Richter, Erik

    2007-01-01

    OBJECTIVE: An adverse intrauterine environment indicated by both low birth weight and monozygosity is associated with an age- or time-dependent reduction in glucose disposal and nonoxidative glucose metabolism in twins, suggesting impaired regulation of muscle glycogen synthesis. RESEARCH DESIGN...... fractional GS activity amidst higher glycogen and GS protein levels compared with dizygotic twins. In addition, we demonstrated strong nongenetic associations between birth weight and defect muscle glycogen metabolism in elderly--but not in younger--twins. Thus, for every 100 g increase in birth weight...... feedback inhibition of glycogen metabolism by glycogen per se may contribute to the insulin resistance in elderly monozygotic compared with dizygotic twins...

  8. Integral Characterization of Defective BDNF/TrkB Signalling in Neurological and Psychiatric Disorders Leads the Way to New Therapies

    Science.gov (United States)

    Tejeda, Gonzalo S.; Díaz-Guerra, Margarita

    2017-01-01

    Enhancement of brain-derived neurotrophic factor (BDNF) signalling has great potential in therapy for neurological and psychiatric disorders. This neurotrophin not only attenuates cell death but also promotes neuronal plasticity and function. However, an important challenge to this approach is the persistence of aberrant neurotrophic signalling due to a defective function of the BDNF high-affinity receptor, tropomyosin-related kinase B (TrkB), or downstream effectors. Such changes have been already described in several disorders, but their importance as pathological mechanisms has been frequently underestimated. This review highlights the relevance of an integrative characterization of aberrant BDNF/TrkB pathways for the rational design of therapies that by combining BDNF and TrkB targets could efficiently promote neurotrophic signalling. PMID:28134845

  9. Genetic Conditions: A Resource Book and Instructional Guide to Human Heredity and Birth Defects for Kindergarten Through Adult Education.

    Science.gov (United States)

    California State Dept. of Education, Sacramento.

    Designed for administrators, teachers, school nurses, and others involved in health education for kindergarten through adult education, the resource guide provides curriculum ideas for instruction in genetic conditions, heredity, and birth defects. Student learning objectives, content information, learning activities, and evaluation methods are…

  10. Preventing Fetal Alcohol Syndrome and Other Alcohol-Related Birth Defects: Teacher's Manual and Student Text. High School Edition.

    Science.gov (United States)

    Howard, Elizabeth; And Others

    This teacher's manual presents lesson plans for a high-school instructional unit on Fetal Alcohol Syndrome and its less severe manifestations, Alcohol-Related Birth Defects. The lessons cover alcohol's effects during pregnancy, the history of concern about alcohol's effects, consequences of alcohol use in pregnancy, lifestyle risk reduction, and…

  11. Agricultural chemical exposures and birth defects in the Eastern Cape Province, South Africa A case – control study

    Directory of Open Access Journals (Sweden)

    Tyler Joanne

    2003-10-01

    Full Text Available Abstract Background South Africa is one of the major users of pesticides on the African continent. The Eastern Cape is the second largest province in South Africa. There has been growing concern about the occurrence of certain birth defects which seemed to have increased in the past few years. In this paper we investigate associations between exposure to agricultural chemicals and certain birth defects. Few such studies have been undertaken in the developing world previously. Methods Between September 2000 and March 2001 a case – control study was conducted among rural women in the area of the Eastern cape to investigate the association between women's exposure to pesticides and the occurrence of birth defects. Information on birth defects was obtained from the register of the Paediatrics Department at the Cecilia Makiwane Hospital in Mdantsane, one of the largest referral hospitals in the province. The cases were children who were diagnosed with selected birth defects. The controls were children born in the same areas as the cases. Exposure information on the mothers was obtained by interview concerning from their activities in gardens and fields. Data were analysed using conditional logistic regression. Results A total of 89 case mothers and 178 control mothers was interviewed. Babies with birth defects were seven times more likely to be born to women exposed to chemicals used in gardens and fields compared to no reported exposure (Odds Ratio 7.18, 95% CI 3.99, 13.25; and were almost twice as likely to be born to women who were involved in dipping livestock used to prevent ticks (OR 1.92, 95% CI 1.15, 3.14. They were also 6.5 times more likely to be born to women who were using plastic containers for fetching water (OR 6.5, 95% CI 2.2, 27.9. Some of these containers had previously contained pesticides (OR 1.87, 95% CI 1.06, 3.31. Conclusions These findings suggest a link between exposure to pesticides and certain birth defects among the

  12. 10 Projects for Preventing Fetal Alcohol Syndrome and Other Alcohol-Related Birth Defects and Have You Heard about Alcohol and Pregnancy.

    Science.gov (United States)

    Adams, Jerry; And Others

    A set of two pamphlets is presented on the topic of Fetal Alcohol Syndrome and Alcohol-Related Birth Defects. "Ten Projects for Preventing Fetal Alcohol Syndrome and Other Alcohol-Related Birth Defects" provides ideas and materials for students and others to use in educating the public about the dangers of alcohol use during pregnancy.…

  13. Hypospadias and maternal exposure to atrazine via drinking water in the National Birth Defects Prevention study.

    Science.gov (United States)

    Winston, Jennifer J; Emch, Michael; Meyer, Robert E; Langlois, Peter; Weyer, Peter; Mosley, Bridget; Olshan, Andrew F; Band, Lawrence E; Luben, Thomas J

    2016-07-15

    Hypospadias is a relatively common birth defect affecting the male urinary tract. It has been suggested that exposure to endocrine disrupting chemicals might increase the risk of hypospadias by interrupting normal urethral development. Using data from the National Birth Defects Prevention Study, a population-based case-control study, we considered the role of maternal exposure to atrazine, a widely used herbicide and potential endocrine disruptor, via drinking water in the etiology of 2nd and 3rd degree hypospadias. We used data on 343 hypospadias cases and 1,422 male controls in North Carolina, Arkansas, Iowa, and Texas from 1998-2005. Using catchment level stream and groundwater contaminant models from the US Geological Survey, we estimated atrazine concentrations in public water supplies and in private wells. We assigned case and control mothers to public water supplies based on geocoded maternal address during the critical window of exposure for hypospadias (i.e., gestational weeks 6-16). Using maternal questionnaire data about water consumption and drinking water, we estimated a surrogate for total maternal consumption of atrazine via drinking water. We then included additional maternal covariates, including age, race/ethnicity, parity, and plurality, in logistic regression analyses to consider an association between atrazine and hypospadias. When controlling for maternal characteristics, any association between hypospadias and daily maternal atrazine exposure during the critical window of genitourinary development was found to be weak or null (odds ratio for atrazine in drinking water = 1. 00, 95 % CI = 0.97 to 1.03 per 0.04 μg/day increase; odds ratio for maternal consumption = 1.02, 95 % CI = 0.99 to 1.05; per 0.05 μg/day increase). While the association that we observed was weak, our results suggest that additional research into a possible association between atrazine and hypospadias occurrence, using a more sensitive exposure metric

  14. Cyclopia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research

    Science.gov (United States)

    Orioli, Iêda M.; Amar, Emmanuelle; Bakker, Marian K.; Bermejo-Sánchez, Eva; Bianchi, Fabrizio; Canfield, Mark A.; Clementi, Maurizio; Correa, Adolfo; Csáky-Szunyogh, Melinda; Feldkamp, Marcia L.; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Morgan, Margery; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Szabova, Elena; Castilla, Eduardo E.

    2015-01-01

    Cyclopia is characterized by the presence of a single eye, with varying degrees of doubling of the intrinsic ocular structures, located in the middle of the face. It is the severest facial expression of the holoprosencephaly (HPE) spectrum. This study describes the prevalence, associated malformations, and maternal characteristics among cases with cyclopia. Data originated in 20 Clearinghouse (ICBDSR) affiliated birth defect surveillance systems, reported according to a single pre-established protocol. A total of 257 infants with cyclopia were identified. Overall prevalence was 1 in 100,000 births (95%CI: 0.89–1.14), with only one program being out of range. Across sites, there was no correlation between cyclopia prevalence and number of births (r = 0.08; P=0.75) or proportion of elective termination of pregnancy (r= −0.01; P=0.97). The higher prevalence of cyclopia among older mothers (older than 34) was not statistically significant. The majority of cases were liveborn (122/200; 61%) and females predominated (male/total: 42%). A substantial proportion of cyclopias (31%) were caused by chromosomal anomalies, mainly trisomy 13. Another 31% of the cases of cyclopias were associated with defects not typically related to HPE, with more hydrocephalus, heterotaxia defects, neural tube defects, and preaxial reduction defects than the chromosomal group, suggesting the presence of ciliopathies or other unrecognized syndromes. Cyclopia is a very rare defect without much variability in prevalence by geographic location. The heterogeneous etiology with a high prevalence of chromosomal abnormalities, and female predominance in HPE, were confirmed, but no effect of increased maternal age or association with twinning was observed. PMID:22006661

  15. Serious adverse neonatal outcomes such as 5-minute Apgar score of zero and seizures or severe neurologic dysfunction are increased in planned home births after cesarean delivery.

    Directory of Open Access Journals (Sweden)

    Amos Grünebaum

    Full Text Available The United States is with 37,451 home births in 2014 the country with the largest absolute number of home births among all developed countries. The purpose of this study was to examine the occurrence and risks of a 5-minute Apgar score of zero and neonatal seizures or serious neurologic dysfunction in women with a history of prior cesarean delivery for planned home vaginal birth after cesarean (VBAC, compared to hospital VBAC and hospital birth cesarean deliveries for term normal weight infants in the United States from 2007-2014. We report in this study outcomes of women who had one or more prior cesarean deliveries and included women who had a successful vaginal birth after a trial of labor after cesarean (TOLAC at home and in the hospital, and a repeat cesarean delivery in the hospital. We excluded preterm births (<37 weeks and infants weighing under 2500 g. Hospital VBACS were the reference. Women with a planned home birth VBAC had an approximately 10-fold and higher increase in adverse neonatal outcomes when compared to hospital VBACS and hospital repeat cesarean deliveries, a significantly higher incidence and risk of a 5-minute Apgar score of 0 of 1 in 890 (11.24/10,000, relative risk 9.04, 95% confidence interval 4-20.39, p<.0001 and an incidence of neonatal seizures or severe neurologic dysfunction of 1 in 814 (Incidence: 12.27/10,000, relative risk 11.19, 95% confidence interval 5.13-24.29, p<.0001. Because of the significantly increased neonatal risks, obstetric providers should therefore not offer or perform planned home TOLACs and for those desiring a VBAC should strongly recommend a planned TOLAC in the appropriate hospital setting. We emphasize that this stance should be accompanied by effective efforts to make TOLAC available in the appropriate hospital setting.

  16. Population-Based Surveillance of Birth Defects Potentially Related to Zika Virus Infection - 15 States and U.S. Territories, 2016.

    Science.gov (United States)

    Delaney, Augustina; Mai, Cara; Smoots, Ashley; Cragan, Janet; Ellington, Sascha; Langlois, Peter; Breidenbach, Rebecca; Fornoff, Jane; Dunn, Julie; Yazdy, Mahsa; Scotto-Rosato, Nancy; Sweatlock, Joseph; Fox, Deborah; Palacios, Jessica; Forestieri, Nina; Leedom, Vinita; Smiley, Mary; Nance, Amy; Lake-Burger, Heather; Romitti, Paul; Fall, Carrie; Prado, Miguel Valencia; Barton, Jerusha; Bryan, J Michael; Arias, William; Brown, Samara Viner; Kimura, Jonathan; Mann, Sylvia; Martin, Brennan; Orantes, Lucia; Taylor, Amber; Nahabedian, John; Akosa, Amanda; Song, Ziwei; Martin, Stacey; Ramlal, Roshan; Shapiro-Mendoza, Carrie; Isenburg, Jennifer; Moore, Cynthia A; Gilboa, Suzanne; Honein, Margaret A

    2018-01-26

    Zika virus infection during pregnancy can cause serious birth defects, including microcephaly and brain abnormalities (1). Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. CDC analyzed data from 15 U.S. jurisdictions conducting population-based surveillance for birth defects potentially related to Zika virus infection.* Jurisdictions were stratified into the following three groups: those with 1) documented local transmission of Zika virus during 2016; 2) one or more cases of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents; and 3) less than one case of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents. A total of 2,962 infants and fetuses (3.0 per 1,000 live births; 95% confidence interval [CI] = 2.9-3.2) (2) met the case definition. † In areas with local transmission there was a non-statistically significant increase in total birth defects potentially related to Zika virus infection from 2.8 cases per 1,000 live births in the first half of 2016 to 3.0 cases in the second half (p = 0.10). However, when neural tube defects and other early brain malformations (NTDs) § were excluded, the prevalence of birth defects strongly linked to congenital Zika virus infection increased significantly, from 2.0 cases per 1,000 live births in the first half of 2016 to 2.4 cases in the second half, an increase of 29 more cases than expected (p = 0.009). These findings underscore the importance of surveillance for birth defects potentially related to Zika virus infection and the need for continued monitoring in areas at risk for Zika.

  17. Exposure to non-steroidal anti-inflammatory drugs during pregnancy and the risk of selected birth defects: a prospective cohort study.

    Directory of Open Access Journals (Sweden)

    Marleen M H J van Gelder

    Full Text Available Since use of non-steroidal anti-inflammatory drugs (NSAIDs during pregnancy is common, small increases in the risk of birth defects may have significant implications for public health. Results of human studies on the teratogenic risks of NSAIDs are inconsistent. Therefore, we evaluated the risk of selected birth defects after prenatal exposure to prescribed and over-the-counter NSAIDs.We used data on 69,929 women enrolled in the Norwegian Mother and Child Cohort Study between 1999 and 2006. Data on NSAID exposure were available from a self-administered questionnaire completed around gestational week 17. Information on pregnancy outcome was obtained from the Medical Birth Registry of Norway. Only birth defects suspected to be associated with NSAID exposure based upon proposed teratogenic mechanisms and previous studies were included in the multivariable logistic regression analyses. A total of 3,023 women used NSAIDs in gestational weeks 0-12 and 64,074 women did not report NSAID use in early pregnancy. No associations were observed between overall exposure to NSAIDs during pregnancy and the selected birth defects separately or as a group (adjusted odds ratio 0.7, 95% confidence interval 0.4-1.1. Associations between maternal use of specific types of NSAIDs and the selected birth defects were not found either, although an increased risk was seen for septal defects and exposure to multiple NSAIDs based on small numbers (2 exposed cases; crude odds ratio 3.9, 95% confidence interval 0.9-15.7.Exposure to NSAIDs during the first 12 weeks of gestation does not seem to be associated with an increased risk of the selected birth defects. However, due to the small numbers of NSAID-exposed infants for the individual birth defect categories, increases in the risks of specific birth defects could not be excluded.

  18. The experience of black parents/caretakers with the births and care of a child with profound congenital defects

    Directory of Open Access Journals (Sweden)

    M.S. Mabaso

    1990-09-01

    Full Text Available The reaction of Black families to the birth and care of a baby with profound congenital defects was researched using twenty case studies. It was found that the families went through stages of the grieving process, that they shifted from the Western/Christian viewpoint to the traditional viewpoint in their struggle to cope and that they find the existing services grossly inadequate.

  19. Pediatric cancer risk in association with birth defects: A systematic review

    Science.gov (United States)

    Padda, Hannah; Feng, Qianxi; Partap, Sonia; Fowler, Susan A.; Druley, Todd E.

    2017-01-01

    Background Many epidemiological studies have examined associations between birth defects (BDs) and pediatric malignancy over the past several decades. Our objective was to conduct a systematic literature review of studies reporting on this association. Methods We used librarian-designed searches of the PubMed Medline and Embase databases to identify primary research articles on pediatric neoplasms and BDs. English language articles from PubMed and Embase up to 10/12/2015, and in PubMed up to 5/12/2017 following an updated search, were eligible for inclusion if they reported primary epidemiological research results on associations between BDs and pediatric malignancies. Two reviewers coded each article based on the title and abstract to identify eligible articles that were abstracted using a structured form. Additional articles were identified through reference lists and other sources. Results were synthesized for pediatric cancers overall and for nine major pediatric cancer subtypes. Results A total of 14,778 article citations were identified, of which 80 met inclusion criteria. Pediatric cancer risk was increased in most studies in association with BDs overall with some notable specific findings, including increased risks for CNS tumors in association with CNS abnormalities and positive associations between rib anomalies and several pediatric cancer types. Conclusions Some children born with BDs may be at increased risk for specific pediatric malignancy types. This work provides a foundation for future investigations that are needed to clarify specific BD types predisposing toward malignancy and possible underlying causes of both BDs and malignancy. PMID:28749971

  20. Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects.

    Science.gov (United States)

    Monroy-Santoyo, Susana; Ibarra-González, Isabel; Fernández-Lainez, Cynthia; Greenawalt-Rodríguez, Sydney; Chacón-Rey, Jorge; Calzada-León, Raúl; Vela-Amieva, Marcela

    2012-01-01

    Congenital hypothyroidism (CH) is the most common endocrine system disorder in newborns. Ectopic thyroid and agenesis are the most frequent thyroid structural malformations. Several reports have shown that CH is associated with birth defects (BD) ranging from congenital heart disease to ocular and gastrointestinal anomalies. We investigated how many and what types of BD were associated with CH in Mexican children. Cross-sectional study conducted in patients with confirmed CH. Highly specialized government pediatric center in Mexico City. We included 212 patients with permanent CH identified by newborn screening. We found that 24% of patients with CH also had BD, and that there was a higher prevalence of thyroid agenesis in the group of patients with CH associated with BD (CH+BD) versus the isolated CH group (p=0.007). There were more females than males in both groups. The most common BD were congenital heart diseases, especially those of the atrial septum, followed by patent ductus arteriosus, found as a single malformation or as part of a complex congenital heart disease. In this study, we found Hirschsprung disease, Beckwith-Wiedemann syndrome, Pierre Robin sequence, Albright's osteodystrophy, VATER association, and frontonasal dysplasia associated with CH. In this study population, there was a high prevalence of BD in patients with permanent CH. Thyroid agenesis was the main etiological cause of CH in patients with associated congenital malformations. The high prevalence of CH+BD underlines the need for a comprehensive clinical diagnostic approach of the patients with CH. Copyright © 2011 Elsevier Ltd. All rights reserved.

  1. Water disinfection by-products and the risk of specific birth defects: a population-based cross-sectional study in Taiwan

    Directory of Open Access Journals (Sweden)

    Hwang Bing-Fang

    2008-06-01

    Full Text Available Abstract Background Recent findings suggest that exposure to disinfection by-products may increase the risk of birth defects. Previous studies have focused mainly on birth defects in general or groups of defects. The objective of the present study was to assess the effect of water disinfection by-products on the risk of most common specific birth defects. Methods We conducted a population-based cross-sectional study of 396,049 Taiwanese births in 2001–2003 using information from the Birth Registry and Waterworks Registry. We compared the risk of eleven most common specific defects in four disinfection by-product exposure categories based on the levels of total trihalomethanes (TTHMs representing high (TTHMs 20+ μg/L, medium (TTHMs 10–19 μg/L, low exposure (TTHMs 5–9 μg/L, and 0–4 μg/L as the reference category. In addition, we conducted a meta-analysis of the results from the present and previous studies focusing on the same birth defects. Results In multivariate logistic regression analysis the risk of ventricular septal defects (adjusted odds ratio 1.81, 95% confidence interval: 0.98 3.35, cleft palate (1.56. 95% CI: 1.00, 2.41, and anencephalus (1.96, 95% CI: 0.94, 4.07 were elevated in the high exposure compared to the reference category. In the meta-analysis, the summary odds ratio for ventricular septal defects (1.59, 95% CI: 1.21, 2.07 was consistently elevated. Conclusion The present study suggests that prenatal exposure to disinfection by-products increases the risk of ventricular septal defects, cleft palate, and anencephalus. The evidence on ventricular septal defects is consistent in the three available studies.

  2. An exploratory analysis of the relationship between ambient ozone and particulate matter concentrations during early pregnancy and selected birth defects in Texas

    Science.gov (United States)

    Background: Associations between ozone (O3) and fine particulate matter (PM2.5) concentrations and birth outcomes have been previously demonstrated. We perform an exploratory analysis of O3 and PM2.5 concentrations during early pregnancy and multiple types of birth defects. Met...

  3. Risk factors for congenital diaphragmatic hernia in the Bogota birth defects surveillance and follow-up program, Colombia.

    Science.gov (United States)

    García, Ana M; Machicado, S; Gracia, G; Zarante, I M

    2016-03-01

    The mortality rate for congenital diaphragmatic hernia (CDH) remains high and prevention efforts are limited by the lack of known risk factors. The aim of this study was to determine prevalence, risk factors, and neonatal results associated with CDH on a surveillance system hospital-based in Bogotá, Colombia. The data used in this study were obtained from The Bogota Birth Defects Surveillance and Follow-up Program (BBDSFP), between January 2001 and December 2013. With 386,419 births, there were 81 cases of CDH. A case-control methodology was conducted with 48 of the total cases of CDH and 192 controls for association analysis. The prevalence of CDH was 2.1 per 10,000 births. In the case-control analysis, risk factors found were maternal age ≥35 years (OR, 33.53; 95 % CI, 7.02-160.11), infants with CDH were more likely to be born before 37 weeks of gestation (OR, 5.57; 95 % CI, 2.05-15.14), to weigh less than 2500 g at birth (OR, 9.05; 95 % CI, 3.51-23.32), and be small for gestational age (OR, 5.72; 95 % CI, 2.18-14.99) with a high rate of death before hospital discharge in the CDH population (CDH: 38 % vs BBDSFP: <1 %; p < 0.001). The prevalence of CDH calculated was similar to the one reported in the literature. CDH is strongly associated with a high rate of death before hospital discharge and the risk factors found were maternal age ≥35 years, preterm birth, be small for gestational age, and have low weight at birth. These neonatal characteristics in developing countries would help to identify early CDH. Prevention efforts have been limited by the lack of known risk factors and established epidemiological profiles, especially in developing countries.

  4. Genetic Mutations, Birth Lengths, Weights and Head Circumferences of Children with IGF-I Receptor Defects. Comparison with other Congenital Defects in the GH/IGF-I axis.

    Science.gov (United States)

    Essakow, Jenna Lee; Lauterpacht, Aharon; Lilos, Pearl; Kauli, Rivka; Laron, Zvi

    2016-09-01

    In recent years more and more genetic defects along the GHRH-GH-IGF-I axis have been reported. Mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygote progenies survive. To summarize, from the literature, data on birth length, weight and head circumference of neonates with IGF-I-R mutations, and to correlate the data with that of other types of mutations in the GH/IGF-I axis. Sixty seven neonates from 24 published articles were included and forty seven different mutations of the IGF-I (R) located on chromosome 15 have been identified. Mean (±SD) birth length (BL), available for 26, (10 M, 16F) neonates with a gestational age of 34-41weeks, was 44.2±4cm; one was premature (30cm at 31 weeks). There was a significant correlation between birth length and gestational age (GA) r=0.71 (p>.001). Mean birth weight (BW) of 41 neonates (18M, 23F) was 2388±743gr. Two premature neonates weighed 650gr and 950gr respectively. The BW correlated significantly with gestational age, (males: r=0.68; p=0.007, females: r=0.49; p=0.024). The BMI of 25 neonates ranged from 6 to 13. In 22 records marked microcephaly was ascertained or stated. Nine of 16 mothers were short (133 -148cm), m±SD = 150.5±7.3cm. Copyright© of YS Medical Media ltd.

  5. Birth Defects in Infants Born in 1998-2004 to Men and Women Serving in the US Military During the 1990-1991 Gulf War Era

    Science.gov (United States)

    2012-08-18

    vaccinations , medication, and pesticides) and the prevalence of birth defects in the chil- dren of male Gulf War veterans. In our study, deploy- ment-specific...Defects Res A Clin Mol Teratol 70:572–579. Reichenberg A, Gross R, Weiser M, et al. 2006. Advancing paternal age and autism . Arch Gen Psychiatry 63...received smallpox vaccine . Birth Defects Res A Clin Mol Teratol 82:533–539. Ryan MA, Pershyn-Kisor MA, Honner WK, et al. 2001. The Department of Defense

  6. [Using hospital discharge records, birth certificates and a birth defects registry for epidemiological and public health purposes: experience in Emilia-Romagna region (northern Italy)].

    Science.gov (United States)

    Astolfi, Gianni; Bianchi, Fabrizio; Lupi, Camilla; Napoli, Nicola; Neville, Amanda; Verdini, Eleonora; Verzola, Adriano; Calzolari, Elisa

    2013-01-01

    implementation and validation of a methodology to link and integrate hospital discharge record (SDO), birth certificate (CeDAP) and the population-based registry of congenital malformations of the Emilia-Romagna Region (IMER). An algorithm has been developed to link registry data and administrative data through the use of indirect patient identifiers in order to exploit the strengths of the different data sources and to expand the pool of existing data available for the analysis. use of IMER Registry, birth certificates and hospital discharge records to assess and diagnose congenital malformations; these data sources vary in terms of availability and accuracy. data from IMER Registry, SDO and CeDAP for year 2009 have been used. the main results of the study are: 1. a perfect monitoring system does not exist, the algorithm proposed enabled the integration of three different sources and the evaluation of the capacity to identify different anomalies to be capitalized on; 2. the high number of false positives in audit reporting in 4 hospitals underlines the importance of the contribution of clinical experts in the review of the case to exclude coding errors, clarify unspecific diagnostic categories and identify syndromes; 3. the IMER Registry with over 30 years of experience has been the catalyst for this work by integrating clinical skills in the registry with the public health expertise of other professionals involved in information flows; 4. in the absence of a single comprehensive source of data collection, the advantage of the integration of the information collected from multiple sources is confirmed. birth defects surveillance programmes are critical resources that can provide fundamental information to take sound decisions in healthcare planning and for environmental epidemiology studies. This experience, whilst not mechanically transferable to other areas and circumstances, is a model for the future clinical and epidemiological management of congenital

  7. Comparison of live-birth defects after luteal-phase ovarian stimulation vs. conventional ovarian stimulation for in vitro fertilization and vitrified embryo transfer cycles.

    Science.gov (United States)

    Chen, Hong; Wang, Yun; Lyu, Qifeng; Ai, Ai; Fu, Yonglun; Tian, Hui; Cai, Renfei; Hong, Qingqing; Chen, Qiuju; Shoham, Zeev; Kuang, Yanping

    2015-05-01

    To assess live-birth defects after a luteal-phase ovarian-stimulation regimen (LPS) for in vitro fertilization (IVF) and vitrified embryo transfer (ET) cycles. Retrospective cohort study. Tertiary-care academic medical center. Infants who were born between January 1, 2013 and May 1, 2014 from IVF with intracytoplasmic sperm injection (ICSI) treatments (n = 2,060) after either LPS (n = 587), the standard gonadotropin-releasing hormone-agonist (GnRH-a) short protocol (n = 1,257), or mild ovarian stimulation (n = 216). The three ovarian-stimulation protocols described and assisted reproductive technology (ART) treatment (IVF or ICSI, and vitrified ET) in ordinary practice. The main measures were: gestational age, birth weight and length, multiple delivery, early neonatal mortality, and birth defects. Associations were assessed using logistic regression by adjusting for confounding factors. The final sample included 2,060 live-born infants, corresponding to 1,622 frozen-thawed (FET) cycles, which led to: 587 live-born infants from LPS (458 FET cycles); 1,257 live-born infants from the short protocol (984 FET cycles); and 216 live-born infants from mild ovarian stimulation (180 FET cycles). Birth characteristics regarding gestational age, birth weight and length, multiple delivery, and early neonatal death were comparable in all groups. The incidence of live-birth defects among the LPS group (1.02%) and the short GnRH-a protocol group (0.64%) was slightly higher than in the mild ovarian-stimulation group (0.46%). However, none of these differences reached statistical significance. For congenital malformations, the risk significantly increased for the infertility-duration factor and multiple births; the adjusted odds ratios were 1.161 (95% confidence interval [CI]: 1.009-1.335) and 3.899 (95% CI: 1.179-12.896), respectively. No associations were found between congenital birth defects and various ovarian-stimulation regimens, maternal age, body mass index, parity

  8. Suspected Spontaneous Reports of Birth Defects in the UK Associated with the Use of Carbimazole and Propylthiouracil in Pregnancy

    Directory of Open Access Journals (Sweden)

    Pamela Bowman

    2011-01-01

    Full Text Available The concept of a carbimazole embryopathy underlies current Endocrine Society advice to avoid this drug in early pregnancy, favouring propylthiouracil as an alternative for the treatment of maternal hyperthyroidism. We aimed to establish whether suspected spontaneous reporting of adverse drug reactions in the UK via the Yellow Card Scheme supports a carbimazole embryopathy and the lack of association between propylthiouracil and congenital anomalies. All birth defects related to maternal treatment with carbimazole or propylthiouracil reported over a 47-year period via the Yellow Card Scheme were analysed. 57 cases with 97 anomalies were reported following in utero exposure to carbimazole. These anomalies included aplasia cutis, choanal atresia, tracheo-oesophageal fistula, and patent vitellointestinal duct, which have previously been reported in association with carbimazole/methimazole exposure in utero. Only 6 cases with 11 anomalies were reported for propylthiouracil, all within the last 15 years. Therefore, these findings may support a carbimazole embryopathy. There are few birth defects associated with propylthiouracil, but this should be interpreted in the context of higher historical prescription rates for carbimazole.

  9. Maternal Medication and Herbal Use and Risk for Hypospadias: Data from the National Birth Defects Prevention Study, 1997--2007

    Science.gov (United States)

    Lind, Jennifer N.; Tinker, Sarah C.; Broussard, Cheryl S.; Reefhuis, Jennita; Carmichael, Suzan L.; Honein, Margaret A.; Olney, Richard S.; Parker, Samantha E.; Werler, Martha M.

    2014-01-01

    Purpose Investigate associations between maternal use of common medications and herbals during early pregnancy and risk for hypospadias in male infants. Methods We used data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. We analyzed data from 1,537 infants with second-or third-degree isolated hypospadias and 4,314 liveborn male control infants without major birth defects, with estimated dates of delivery from 1997–2007. Exposure was reported use of prescription or over-the-counter medications or herbal products, from 1 month before to 4 months after conception. Adjusted odds ratios (aORs) and 95% confidence intervals (CI) were estimated using multivariable logistic regression, adjusting for maternal age, race/ethnicity, education, pre-pregnancy BMI, previous live births, maternal sub-fertility, study site, and year. Results We assessed 64 medication and 24 herbal components. Maternal uses of most components were not associated with an increased risk of hypospadias. Two new associations were observed for venlafaxine (aOR 2.4; 95% CI 1.0, 6.0) and progestin only oral contraceptives (aOR 1.9, 95% CI 1.1, 3.2). The previously reported association for clomiphene citrate was confirmed (aOR 1.9, 95% CI 1.2, 3.0). Numbers were relatively small for exposure to other specific patterns of fertility agents, but elevated aORs were observed for the most common of them. Conclusions Overall, findings were reassuring that hypospadias is not associated with most medication components examined in this analysis. New associations will need to be confirmed in other studies. Increased risks for hypospadias associated with various fertility agents raises the possibility of confounding by underlying subfertility. PMID:23620412

  10. Differences in risk factors for second and third degree hypospadias in the national birth defects prevention study.

    Science.gov (United States)

    Woud, Sander Groen In 't; van Rooij, Iris A L M; van Gelder, Marleen M H J; Olney, Richard S; Carmichael, Suzan L; Roeleveld, Nel; Reefhuis, Jennita

    2014-09-01

    Hypospadias is a frequent birth defect with three phenotypic subtypes. With data from the National Birth Defects Prevention Study, a large, multi-state, population-based, case-control study, we compared risk factors for second and third degree hypospadias. A wide variety of data on maternal and pregnancy-related risk factors for isolated second and third degree hypospadias was collected by means of computer-assisted telephone interviews to identify potential etiological differences between the two phenotypes. Logistic regression was used to calculate odds ratios including a random effect by study center. In total, 1547 second degree cases, 389 third degree cases, and 5183 male controls were included in our study. Third degree cases were more likely to have a non-Hispanic black or Asian/Pacific Islander mother, be delivered preterm, have a low birth weight, be small for gestational age, and be conceived with fertility treatments than second degree cases and controls. Associations with both second and third degree hypospadias were observed for maternal age, family history, parity, plurality, and hypertension during pregnancy. Risk estimates were generally higher for third degree hypospadias except for family history. Most risk factors were associated with both or neither phenotype. Therefore, it is likely that the underlying mechanism is at least partly similar for both phenotypes. However, some associations were different between second and third degree hypospadias, and went in opposite directions for second and third degree hypospadias for Asian/Pacific Islander mothers. Effect estimates for subtypes of hypospadias may be over- or underestimated in studies without stratification by phenotype. © 2014 Wiley Periodicals, Inc.

  11. Differences in risk factors for 2nd and 3rd degree hypospadias in the National Birth Defects Prevention Study

    Science.gov (United States)

    in 't Woud, Sander Groen; van Rooij, Iris A.L.M.; van Gelder, Marleen M.H.J.; Olney, Richard S.; Carmichael, Suzan L.; Roeleveld, Nel; Reefhuis, Jennita

    2015-01-01

    Background Hypospadias is a frequent birth defect with three phenotypic subtypes. With data from the National Birth Defects Prevention Study, a large, multi-state, population-based, case-control study, we compared risk factors for second and third degree hypospadias. Methods A wide variety of data on maternal and pregnancy-related risk factors for isolated second and third degree hypospadias was collected via computer-assisted telephone interviews to identify potential etiological differences between the two phenotypes. Logistic regression was used to calculate odds ratios including a random effect by study center. Results In total, 1547 second degree cases, 389 third degree cases, and 5183 male controls were included in our study. Third degree cases were more likely to have a non-Hispanic black or Asian/Pacific Islander mother, be delivered preterm, have a low birth weight, be small for gestational age, and be conceived with fertility treatments than second degree cases and controls. Associations with both second and third degree hypospadias were observed for maternal age, family history, parity, plurality, and hypertension during pregnancy. Risk estimates were generally higher for third degree hypospadias except for family history. Conclusions Most risk factors were associated with both or neither phenotype. Therefore, it is likely that the underlying mechanism is at least partly similar for both phenotypes. However, some associations were different between 2nd and 3rd degree hypospadias, and went in opposite directions for second and third degree hypospadias for Asian/Pacific Islander mothers. Effect estimates for subtypes of hypospadias may be over- or underestimated in studies without stratification by phenotype. PMID:25181604

  12. Birth Defects in Newborns: Spina Bifida Index at Rio Grande Do Norte State in Brazil

    Directory of Open Access Journals (Sweden)

    Arnaldo CM Junior

    2014-08-01

    Conclusion: Northeast region is the one that has the major incidence of SB in Brazil country, but RN state has a number lower than others states from its region. It was made an update about therapeutic options to minimize the morbidity and mortality in newborn with SB congenital defects. [J Interdiscipl Histopathol 2014; 2(4.000: 217-223

  13. Multivitamins, Folic Acid and Birth Defects: Knowledge, Beliefs and Behaviors of Hispanic Women in North Carolina

    Science.gov (United States)

    deRosset, Leslie; Mullenix, Amy; Zhang, Lei

    2009-01-01

    Background: Consumption of folic acid prior to conception can prevent up to 70% of neural tube defect (NTD)-affected pregnancies. In 1992, the U.S. Public Health Service (USPHS) issued a recommendation that all women of childbearing age capable of becoming pregnant consume 400 [mu]g of folic acid daily to reduce their risk for a NTD-affected…

  14. Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

    Science.gov (United States)

    MUTCHINICK, OSVALDO M.; LUNA-MUÑOZ, LEONORA; AMAR, EMMANUELLE; BAKKER, MARIAN K.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; DUTRA, MARIA DA GRAÇA; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, BRIAN; MARENGO, LISA K.; MARTÍNEZ-FRÍAS, MARÍA-LUISA; MASTROIACOVO, PIERPAOLO; MÉTNEKI, JULIA; MORGAN, MARGERY; PIERINI, ANNA; RISSMAN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SIFFEL, CSABA; SZABOVA, ELENA; ARTEAGA-VÁZQUEZ, JAZMÍN

    2015-01-01

    Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was to analyze diverse epidemiological aspects of CT, including the different variables listed in the Introduction Section of this issue of the Journal. The study was made possible using the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) structure. This multicenter worldwide research includes the largest sample of CT ever studied. A total of 383 carefully reviewed sets of CT obtained from 26,138,837 births reported by 21 Clearinghouse Surveillance Programs (SP) were included in the analysis. Total prevalence was 1.47 per 100,000 births (95% CI: 1.32–1.62). Salient findings including an evident variation in prevalence among SPs: a marked variation in the type of pregnancy outcome, a similarity in the proportion of CT types among programs: a significant female predominance in CT: particularly of the thoracopagus type and a significant male predominance in parapagus and parasitic types: significant differences in prevalence by ethnicity and an apparent increasing prevalence trend in South American countries. No genetic, environmental or demographic significant associated factors were identified. Further work in epidemiology and molecular research is necessary to understand the etiology and pathogenesis involved in the development of this fascinating phenomenon of nature. PMID:22002822

  15. A Comparative Study of Computer-Aided Clinical Diagnosis of Birth Defects.

    Science.gov (United States)

    1981-01-21

    Disease Frame in PIP FRAME NAME: ACHONDROPLASIA TYPE: SYNDROME FINDING: STATURE WITH LEVEL SHORT, TYPE DISPROPORTIONATE. AND ONSET AT-BIRTH FINDING...ready for use by the medical community. ---- _ ------ - M -1 n . .i -97. H.B. Sherman Appendix I - List of Syndromes ACHONDROPLASIA ACROFACIAL...Appendix 11 - List of Clinical Cases Case Number Case Name 1 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 2 ACHONDROPLASIA 3 SPONDYLOEPIPHYSEAL DYSPLASIA

  16. Maternal dietary intake of nitrates, nitrites and nitrosamines and selected birth defects in offspring: a case-control study.

    Science.gov (United States)

    Huber, John C; Brender, Jean D; Zheng, Qi; Sharkey, Joseph R; Vuong, Ann M; Shinde, Mayura U; Griesenbeck, John S; Suarez, Lucina; Langlois, Peter H; Canfield, Mark A; Romitti, Paul A; Weyer, Peter J

    2013-03-21

    Dietary intake of nitrates, nitrites, and nitrosamines can increase the endogenous formation of N-nitroso compounds in the stomach. Results from animal studies suggest that these compounds might be teratogenic. We examined the relationship between maternal dietary intake of nitrates, nitrites (including plant and animal sources as separate groups), and nitrosamines and several types of birth defects in offspring. For this population-based case-control study, data from a 58-question food frequency questionnaire, adapted from the short Willett Food Frequency Questionnaire and administered as part of the National Birth Defects Prevention Study (NBDPS), were used to estimate daily intake of dietary nitrates, nitrites, and nitrosamines in a sample of 6544 mothers of infants with neural tube defects (NTD)s, oral clefts (OC)s, or limb deficiencies (LD)s and 6807 mothers of unaffected control infants. Total daily intake of these compounds was divided into quartiles based on the control mother distributions. Odds ratios (OR)s and 95% confidence intervals (CI)s were estimated using logistic regression; estimates were adjusted for maternal daily caloric intake, maternal race-ethnicity, education, dietary folate intake, high fat diet (>30% of calories from fat), and state of residence. While some unadjusted ORs for NTDS had 95% (CI)s that excluded the null value, none remained significant after adjustment for covariates, and the effect sizes were small (adjusted odds ratios [aOR]<1.12). Similar results were found for OCs and LDs with the exception of animal nitrites and cleft lip with/without cleft palate (aORs and CIs for quartile 4 compared to quartile 1 =1.24; CI=1.05-1.48), animal nitrites and cleft lip (4th quartile aOR=1.32; CI=1.01-1.72), and total nitrite and intercalary LD (4th quartile aOR=4.70; CI=1.23-17.93). Overall, odds of NTDs, OCs or LDs did not appear to be significantly associated with estimated dietary intake of nitrate, nitrite, and nitrosamines.

  17. Amelia : A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

    NARCIS (Netherlands)

    Bermejo-Sanchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bakker, Marian K.; Bianca, Sebastiano; Bianchi, Fabrizio; Canfield, Mark A.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; Feldkamp, Marcia L.; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martinez-Frias, Maria-Luisa

    2011-01-01

    This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all

  18. Sirenomelia : An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research, and Literature Review

    NARCIS (Netherlands)

    Orioli, Ieda M.; Amar, Emmanuelle; Arteaga-Vazquez, Jazmin; Bakker, Marian K.; Bianca, Sebastiano; Botto, Lorenzo D.; Clementi, Maurizio; Correa, Adolfo; Csaky-Szunyogh, Melinda; Leoncini, Emanuele; Li, Zhu; Lopez-Camelo, Jorge S.; Lowry, R. Brian; Marengo, Lisa; Martinez-Frias, Maria-Luisa; Mastroiacovo, Pierpaolo; Morgan, Margery; Pierini, Anna; Ritvanen, Annukka; Scarano, Gioacchino; Szabova, Elena; Castilla, Eduardo E.

    2011-01-01

    Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system

  19. Sirenomelia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research, and Literature Review

    Science.gov (United States)

    ORIOLI, IÊDA M.; AMAR, EMMANUELLE; ARTEAGA-VAZQUEZ, JAZMIN; BAKKER, MARIAN K.; BIANCA, SEBASTIANO; BOTTO, LORENZO D.; CLEMENTI, MAURIZIO; CORREA, ADOLFO; CSAKY-SZUNYOGH, MELINDA; LEONCINI, EMANUELE; LI, ZHU; LÓPEZ-CAMELO, JORGE S.; LOWRY, R. BRIAN; MARENGO, LISA; MARTÍNEZ-FRÍAS, MARÍA-LUISA; MASTROIACOVO, PIERPAOLO; MORGAN, MARGERY; PIERINI, ANNA; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SZABOVA, ELENA; CASTILLA, EDUARDO E.

    2015-01-01

    Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10–15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. PMID:22002878

  20. Environmental characteristics and prevalence of birth defects among children in post-war Iraq: implications for policies on rebuilding the Iraqi education system.

    Science.gov (United States)

    Alborz, Alison

    2013-01-01

    This article explores the relationship between the prevalence of 'birth defects' and environmental characteristics, and considers implications for targeting resources to establish the educational inclusion of children affected. A household survey in four governorates across Iraq in 2010, conducted under the auspices of CARA, achieved interviews with 6032 households and collected data on more than 10,000 children and young people. Analyses suggested an association between reported presence of potential sources of contamination in local environments from human and domestic waste, and to some extent from naturally occurring contaminants and the detritus of warfare, with higher numbers of resident children having 'birth defects'. Children living in Basra were found to be most significantly impacted. This finding adds to a growing literature on associations between potential sources of environmental contaminants and impact on the health of children living in affected localities,

  1. Assessment of risk factors for infantile cataracts using a case-control study, National Birth Defects Prevention Study, 2000–2004

    Science.gov (United States)

    Prakalapakorn, Sasapin G.; Rasmussen, Sonja A.; Lambert, Scott R.; Honein, Margaret A.

    2010-01-01

    Objective To identify risk factors for infantile cataracts of unknown etiology. Design Case-control study Participants Case-infants (N=152) and control-infants (N=4205) enrolled in the National Birth Defects Prevention Study for birth years 2000–2004. Methods Multivariate analysis was performed exploring associations for risk factors for bilateral and unilateral infantile cataracts of unknown etiology. Main Outcome Measures Infantile cataracts of unknown etiology Results Maternal interviews were completed for 43 case-infants with bilateral and 109 with unilateral infantile cataracts of unknown etiology. Very low birth weight (birth weight (1500–2499g) was only associated with bilateral cataracts (OR=3.3; 95% CI=1.3–8.1). Infants with unilateral cataracts were more likely to be born to primigravid women (OR=1.6; 95% CI=1.0–2.7) than women with two or more previous pregnancies, although this was of borderline significance. While not statistically significant, effect estimates were elevated suggesting a possible association between unilateral cataracts and maternal substance abuse during pregnancy, and between bilateral cataracts and urinary tract infection during pregnancy and aspirin use during pregnancy. Conclusions Very low birth weight is associated with both bilateral and unilateral cataracts, while low birth weight is associated with bilateral cataracts and primigravidity with unilateral cataracts. Other associations, while not of statistical significance, suggest risk factors that merit further research. PMID:20363508

  2. Assessment of risk factors for infantile cataracts using a case-control study: National Birth Defects Prevention Study, 2000-2004.

    Science.gov (United States)

    Prakalapakorn, Sasapin G; Rasmussen, Sonja A; Lambert, Scott R; Honein, Margaret A

    2010-08-01

    To identify risk factors for infantile cataracts of unknown etiology. Case-control study. Case infants (n = 152) and control infants (n = 4205) enrolled in the National Birth Defects Prevention Study for birth years 2000-2004. Multivariate analysis was performed exploring associations for risk factors for bilateral and unilateral infantile cataracts of unknown etiology. Infantile cataracts of unknown etiology. Maternal interviews were completed for 43 case infants with bilateral and 109 with unilateral infantile cataracts of unknown etiology. Very low birth weight (birth weight (1500-2499 g) was only associated with bilateral cataracts (OR, 3.3; 95% CI, 1.3-8.1). Infants with unilateral cataracts were more likely to be born to primigravid women (OR, 1.6; 95% CI, 1.0-2.7) than women with > or =2 previous pregnancies, although this was of borderline significance. Although not significant, effect estimates were elevated suggesting a possible association between unilateral cataracts and maternal substance abuse during pregnancy, and between bilateral cataracts and urinary tract infection during pregnancy and aspirin use during pregnancy. Very low birth weight is associated with both bilateral and unilateral cataracts, whereas low birth weight is associated with bilateral cataracts and primigravidity with unilateral cataracts. Other associations, although not statistically significant, suggest risk factors that merit further research. Copyright 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  3. A STUDY ON PREVAL E NCE OF BIRTH DEFECTS AND ITS ASSOCIATION WITH RISK FACTORS IN FAKHRUDHIN ALI AH MED MEDICAL COLLEGE AND HOSPITAL

    OpenAIRE

    De, Alpana; Monowar Hussain

    2015-01-01

    OBJECTIVE: Congenital anomalies or Birth Defects are a global problem. It is the most common cause of disability in developed and developing countries. This study aims to evaluate the overall prevalence of clinically detectable congenital anomalies in newborns along with the different forms of congenital anomalies and associated risk factors if any over a period of one year. MATERIALS AND METHOD S: I t’s an observational analytical cross sectional typ...

  4. Pregnant women's view on the Swedish internet resource Drugs and Birth Defects intended for health care professionals.

    Science.gov (United States)

    Nörby, Ulrika; Källén, Karin; Shemeikka, Tero; Korkmaz, Seher; Winbladh, Birger

    2015-09-01

    Pregnant women often have questions concerning fetal effects of drugs but there is limited reliable information specifically intended for them. This study investigated how pregnant women perceive and value the scientific resource Drugs and Birth Defects (www.janusinfo.se/fosterpaverkan) and compared their opinions with those of health care professionals. Electronic questionnaire study. Pregnant women were recruited at their regular visits, and health care professionals via e-mail, at 10 antenatal clinics. Altogether, 275 pregnant women, 38 midwives and 30 physicians participated. Among the pregnant women, 81% found the information valuable, 70% that it was easy to understand, and 92% that it strengthened information from the staff. Concerning anxiety for negative fetal effects, 68% of the women answered that the anxiety decreased or was not influenced by the texts and 22% that it increased. Among physicians and midwives, 44% saw risks associated with pregnant women reading the texts and 24% answered that they would fully recommend them to use the database. The corresponding figures among pregnant women were 17 and 65%, respectively (P < 0.001). The professionals preferred, to a greater extent than pregnant women did, lay people to use a special edition. The majority of pregnant women seem to benefit from using a scientific resource on fetal impact of drugs intended for health care professionals. Some women are more worried after having read the information, but most of them still find it valuable. It is important that pregnant women who use the database can reach a medical professional to discuss the contents. © 2015 Nordic Federation of Societies of Obstetrics and Gynecology.

  5. Birth Defects: Cerebral Palsy

    Science.gov (United States)

    ... affects how the nerve cells in your brain work. Magnetic resonance imaging (also called MRI) . MRI is a medical test that makes a detailed picture of the inside of your body. Ultrasound . This test ... is CP treated? You can work with a team of health care providers to ...

  6. Facts about Birth Defects

    Science.gov (United States)

    ... pregnant. Don’t drink alcohol , smoke , or use “street” drugs. Talk to a healthcare provider about any medications you are taking or thinking about taking. This includes prescription and over-the-counter medications and dietary or herbal supplements. Don’t stop or start taking any ...

  7. Surveillance of birth defects: Brazil and the US Vigilância epidemiológica em anomalias congênitas: Brasil e Estados Unidos

    Directory of Open Access Journals (Sweden)

    Daniela Varela Luquetti

    2011-01-01

    Full Text Available The impacts of birth defects in the society have substantially increased over the last decades in countries where the reduction of infant mortality by other causes has occurred. Birth defects surveillance represents an important source of information for planning X health policies and resource allocation. In this article, we discuss the potential utilizations, methodology options, limitations, and policy issues related to birth defects surveillance. Also, the birth defects surveillance programs from US and Brazil are described and compared as an illustration of the development of surveillance systems in two countries with clearly dissimilar health systems and resource allocation for birth defects programs. Finally, we propose measures for the improvement of the existing systems in both countries focusing at the utilization of preexisting resources.O impacto das anomalias congênitas na sociedade vem aumentando substancialmente nas últimas décadas nos países onde ocorreu a diminuição da mortalidade infantil por outras causas. A vigilância epidemiológica em anomalias congênitas representa uma importante fonte de informação para o planejamento de políticas de saúde e alocação de recursos. Neste artigo, os potenciais usos, opções de metodologia, limitações e questões de políticas de saúde relacionadas à vigilância epidemiológica em anomalias congênitas são abordados. Além disso, os programas dos Estados Unidos e Brasil são descritos e comparados para ilustrar sistemas em dois países com sistemas de saúde e alocação de recursos para as anomalias congênitas claramente diferentes. Finalmente, apresentamos propostas de medidas para melhorar os sistemas existentes em ambos os países, focalizando na utilização de recursos pré-existentes.

  8. Atenção aos defeitos congênitos no Brasil: panorama atual Birth defects and health strategies in Brazil: an overview

    Directory of Open Access Journals (Sweden)

    Dafne Dain Gandelman Horovitz

    2005-08-01

    Full Text Available O impacto dos defeitos congênitos no Brasil vem aumentando progressivamente, tendo passado da quinta para a segunda causa dos óbitos em menores de um ano entre 1980 e 2000, apontando para a necessidade de estratégias específicas na política de saúde. Foram localizadas, no Brasil, direcionadas aos defeitos congênitos, ações governamentais e não-governamentais. Estas envolvem serviços de informação sobre agentes teratogênicos na gravidez e sobre doenças metabólicas geneticamente determinadas, monitorização de defeitos congênitos, programa de triagem neonatal e tratamento de algumas doenças genéticas, imunização contra rubéola, além da fortificação de farinhas com ácido fólico como ação preventiva de certos defeitos congênitos. Apesar da importância de tais iniciativas, é pouco provável que seja possível atender à questão dos defeitos congênitos de forma integrada. Para a efetivação de um sistema de atenção voltado aos defeitos congênitos, deverá ser formulada política específica, de âmbito nacional, com a participação ativa do Ministério da Saúde, utilizando, como espinha dorsal, os serviços de genética existentes. Só assim, será possível a estruturação de uma rede regionalizada, hierarquizada e funcional voltada à atenção aos defeitos congênitos no Brasil.Birth defects have increased progressively in Brazil, shifting from the fifth to the second cause of infant mortality from 1980 to 2000, thus highlighting the need for specific health policy strategies. Some governmental and nongovernmental actions related to birth defects in Brazil include information services on teratogenic agents and inborn errors of metabolism, monitoring of birth defects, neonatal screening and treatment of some genetic diseases, and rubella immunization. In addition, flour fortification with folic acid for prevention of certain birth defects has begun recently. Despite the importance of such initiatives, it is

  9. U.S. Centers for Disease Control and Prevention and Environmental Protection Agency Urge Commonwealth of Puerto Rico to Consider Aerial Spraying as Part of Integrated Mosquito Control to Reduce Zika-Associated Birth Defects

    Science.gov (United States)

    EPA News Release: U.S. Centers for Disease Control and Prevention and Environmental Protection Agency Urge Commonwealth of Puerto Rico to Consider Aerial Spraying as Part of Integrated Mosquito Control to Reduce Zika-Associated Birth Defects

  10. Congenital Heart Defects

    Science.gov (United States)

    ... of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the ... and heart transplants. The treatment depends on the type of the defect, how ... and general health. NIH: National Heart, Lung, and Blood Institute

  11. Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

    Science.gov (United States)

    BERMEJO-SÁNCHEZ, EVA; CUEVAS, LOURDES; AMAR, EMMANUELLE; BAKKER, MARIAN K.; BIANCA, SEBASTIANO; BIANCHI, FABRIZIO; CANFIELD, MARK A.; CASTILLA, EDUARDO E.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, R. BRIAN; MASTROIACOVO, PIERPAOLO; MUTCHINICK, OSVALDO M.; RISSMANN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SIFFEL, CSABA; SZABOVA, ELENA; MARTÍNEZ-FRÍAS, MARÍA-LUISA

    2015-01-01

    This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26–1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly. PMID:22002956

  12. Epidemiologic study of neural tube defects in Los Angeles County. I. Prevalence at birth based on multiple sources of case ascertainment

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E. (Pacific Northwest Lab., Richland, WA); Sanders, M.; Monsen, R.

    1982-01-01

    Epidemiologic studies of the neural tube defects (NTDs), anencephalus and spina bifida, have for the most part been based on single sources of case ascertainment in past studies. The present investigation attempts total ascertainment of NTD cases in the newborn population of Los Angeles County residents for the period 1966 to 1972. Design of the study, sources of data, and estimates of prevalence rates based on single and multiple sources of case ascertainment are here discussed. Anencephalus cases totaled 448, spina bifida 442, and encephalocele 72, giving prevalence rates of 0.52, 0.51, and 0.08 per 1000 total births, respectively, for these neural tube defects - rates considered to be low. The Los Angeles County prevalence rates are compared with those of other recent North American studies and support is provided for earlier suggestions of low rates on the West Coast.

  13. The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

    Science.gov (United States)

    Raveau, Matthieu; Lignon, Jacques M; Nalesso, Valérie; Duchon, Arnaud; Groner, Yoram; Sharp, Andrew J; Dembele, Doulaye; Brault, Véronique; Hérault, Yann

    2012-05-01

    Down syndrome (DS) leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better understand these defects, we defined electrocardiogram (ECG) with a precordial set-up, and we found conduction defects and modifications in wave shape, amplitudes, and durations in Ts65Dn mice. By using a genetic approach consisting of crossing Ts65Dn mice with Ms5Yah mice monosomic for the App-Runx1 genetic interval, we showed that the Ts65Dn viability and ECG were improved by this reduction of gene copy number. Whole-genome expression studies confirmed gene dosage effect in Ts65Dn, Ms5Yah, and Ts65Dn/Ms5Yah hearts and showed an overall perturbation of pathways connected to post-natal lethality (Coq7, Dyrk1a, F5, Gabpa, Hmgn1, Pde10a, Morc3, Slc5a3, and Vwf) and heart function (Tfb1m, Adam19, Slc8a1/Ncx1, and Rcan1). In addition cardiac connexins (Cx40, Cx43) and sodium channel sub-units (Scn5a, Scn1b, Scn10a) were found down-regulated in Ts65Dn atria with additional down-regulation of Cx40 in Ts65Dn ventricles and were likely contributing to conduction defects. All these data pinpoint new cardiac phenotypes in the Ts65Dn, mimicking aspects of human DS features and pathways altered in the mouse model. In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn. These results might lead to new therapeutic strategies to improve the care of DS people.

  14. Avaliação das declarações de nascido vivo como fonte de informação sobre defeitos congênitos Evaluation of the birth certificates as source of information on birth defects

    Directory of Open Access Journals (Sweden)

    Ana Lívia Geremias

    2009-03-01

    Full Text Available OBJETIVO: Estimar a prevalência de defeitos congênitos (DC em uma coorte de nascidos vivos (NV vinculando-se os bancos de dados do Sistema de Informação de Mortalidade (SIM e do Sistema de Informação sobre Nascidos Vivos (SINASC. MÉTODOS: Estudo descritivo para avaliar as declarações de nascido vivo como fonte de informação sobre DC. A população de estudo é uma coorte de NV hospitalares do 1º semestre de 2006 de mães residentes e ocorridos no Município de São Paulo no período de 01/01/2006 a 30/06/2006, obtida por meio da vinculação dos bancos de dados das declarações de nascido vivo e óbitos neonatais provenientes da coorte. RESULTADOS: Os DC mais prevalentes segundo o SINASC foram: malformações congênitas (MC e deformidades do aparelho osteomuscular (44,7%, MC do sistema nervoso (10,0% e anomalias cromossômicas (8,6%. Após a vinculação, houve uma recuperação de 80,0% de indivíduos portadores de DC do aparelho circulatório, 73,3% de DC do aparelho respiratório e 62,5% de DC do aparelho digestivo. O SINASC fez 55,2% das notificações de DC e o SIM notificou 44,8%, mostrando-se importante para a recuperação de informações de DC. Segundo o SINASC, a taxa de prevalência de DC na coorte foi de 75,4%00 NV; com os dados vinculados com o SIM, essa taxa passou para 86,2%00 NV. CONCLUSÕES: A complementação de dados obtida pela vinculação SIM/SINASC fornece um perfil mais real da prevalência de DC do que aquele registrado pelo SINASC, que identifica os DC mais visíveis, enquanto o SIM identifica os mais letais, mostrando a importância do uso conjunto das duas fontes de dados.OBJECTIVE: To obtain the prevalence of birth defects in a live birth cohort, linking the live birth information system (SINASC and the mortality information system (SIM databases. METHODS: Descriptive study to assess linked databases of hospital live births (LB and neonatal deaths of resident mothers that occurred in the city of S

  15. Birth outcomes of cases with left-sided obstructive defects of the heart in the function of maternal socio-demographic factors: a population-based case-control study.

    Science.gov (United States)

    Vereczkey, Attila; Kósa, Zsolt; Csáky-Szunyogh, Melinda; Urbán, Róbert; Czeizel, Andrew E

    2012-12-01

    To evaluate the birth outcomes and maternal variables of cases with different types of left-sided obstructive defects (LSOD) of the heart. Live-born infants were selected from the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, and 302 cases with LSOD, 469 matched controls and 38,151 all controls without any defect, and 20,750 malformed controls with other isolated defects were compared. The diagnosis of LSOD was based on autopsy report or the documents of surgical intervention. Four types of LSOD were differentiated: 56 cases with valvular aortic stenosis (VAS), 76 cases with hypoplastic left heart syndrome (HLHS), 113 cases with coarctation of the aorta (COA) and 57 cases with other congenital abnormalities of aorta (OCA). Cases with LSOD had male excess (64.6%) with a higher rate of preterm birth (14.2 vs. 6.6%) and low birthweight (15.6 vs. 4.3%) compared to matched controls. The high rate of preterm birth was particularly characteristic for HLHS (17.1%) while intrauterine fetal growth restriction was found in cases OCA (22.8%) and COA (13.3%). The mothers of cases with LSOD had higher birth order and lower socio-economic status than controls without any defect. The general pattern of birth outcomes and maternal variables were similar in the types of LSOD cases, but the higher rate of preterm birth and low birthweight indicated some association with their adverse fetal development.

  16. Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.

    Science.gov (United States)

    Gibbs, Brian C; Damerla, Rama Rao; Vladar, Eszter K; Chatterjee, Bishwanath; Wan, Yong; Liu, Xiaoqin; Cui, Cheng; Gabriel, George C; Zahid, Maliha; Yagi, Hisato; Szabo-Rogers, Heather L; Suyama, Kaye L; Axelrod, Jeffrey D; Lo, Cecilia W

    2016-02-16

    Planar cell polarity (PCP) is controlled by a conserved pathway that regulates directional cell behavior. Here, we show that mutant mice harboring a newly described mutation termed Beetlejuice (Bj) in Prickle1 (Pk1), a PCP component, exhibit developmental phenotypes involving cell polarity defects, including skeletal, cochlear and congenital cardiac anomalies. Bj mutants die neonatally with cardiac outflow tract (OFT) malalignment. This is associated with OFT shortening due to loss of polarized cell orientation and failure of second heart field cell intercalation mediating OFT lengthening. OFT myocardialization was disrupted with cardiomyocytes failing to align with the direction of cell invasion into the outflow cushions. The expression of genes mediating Wnt signaling was altered. Also noted were shortened but widened bile ducts and disruption in canonical Wnt signaling. Using an in vitro wound closure assay, we showed Bj mutant fibroblasts cannot establish polarized cell morphology or engage in directional cell migration, and their actin cytoskeleton failed to align with the direction of wound closure. Unexpectedly, Pk1 mutants exhibited primary and motile cilia defects. Given Bj mutant phenotypes are reminiscent of ciliopathies, these findings suggest Pk1 may also regulate ciliogenesis. Together these findings show Pk1 plays an essential role in regulating cell polarity and directional cell migration during development. © 2016. Published by The Company of Biologists Ltd.

  17. Ethical aspects of soft tissue engineering for congenital birth defects in children--what do experts in the field say?

    NARCIS (Netherlands)

    Oerlemans, A.J.M.; Rodrigues, C.H.; Verkerk, M.A.; Berg, P.P. van den; Dekkers, W.J.M.

    2010-01-01

    This article is part of the EuroSTEC project, which aims at developing tissue engineering-based treatments for structural disorders present at birth. EuroSTEC is positioned at the intersection of three areas with their own ethical issues: (1) regenerative medicine, (2) research with pregnant women

  18. Conjoined Twins : A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Mutchinick, Osvaldo M.; Luna-Munoz, Leonora; Amar, Emmanuelle; Bakker, Marian K.; Clementi, Maurizio; Cocchi, Guido; Dutra, Maria da Graca; Feldkamp, Marcia L.; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, Brian; Marengo, Lisa K.; Martinez-Frias, Maria-Luisa; Mastroiacovo, Pierpaolo; Metneki, Julia; Morgan, Margery; Pierini, Anna; Rissman, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Arteaga-Vazquez, Jazmin

    2011-01-01

    Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was

  19. Ethical aspects of soft tissue engineering for congenital birth defects in children : what do experts in the field say?

    NARCIS (Netherlands)

    Oerlemans, A.J.; Rodrigues, Catarina; Verkerk, M.A.; van den Berg, P.P.; Dekkers, W.J.M.

    This article is part of the EuroSTEC project, which aims at developing tissue engineering-based treatments for structural disorders present at birth. EuroSTEC is positioned at the intersection of three areas with their own ethical issues: (1) regenerative medicine, (2) research with pregnant women

  20. Generation R birth cohort study shows that specific enamel defects were not associated with elevated serum transglutaminase type 2 antibodies

    NARCIS (Netherlands)

    Beth, S.A.; Jansen, M.A.E.; Elfrink, M.E.C.; Kiefte-de Jong, J.C.; Wolvius, E.B.; Jaddoe, V.W.V.; Zelm, M.C. van; Moll, H.A.

    2016-01-01

    Aim: Coeliac disease can induce specific enamel defects (SED), but little is known about the consequences of antitissue transglutaminase (TG2A) autoimmunity. We investigated whether TG2A positivity in children and their mothers was associated with SED in the primary dentition. Methods: Maternal and

  1. Epidemiologic study of neural tube defects in Los Angeles County. II. Etiologic factors in an area with low prevalence at birth

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E.

    1982-01-01

    Epidemiologic characteristics of neural tube defect (NTD) births occurring in Los Angeles County, California, residents during the period 1966-1972 are presented. The prevalence at birth was 0.52/1000 births for anencephalus, 0.51/1000 for spina bifida, and 0.08/1000 for encephalocele, rates considered to be low for a predominantly white population. We hypothesized that environmental (nongenetic) factors are of less etiologic importance in a low-prevalence population than in areas or time periods with high prevalence. We tested that hypothesis by examining epidemiologic characteristics of NTDs in Los Angeles County and comparing them with high-prevalence populations. The data did not support a major etiologic role for environmental factors: (1) no significant differences between rates by month of birth or conception; (2) no significant association with maternal age or parity for anencephalus; for spina bifida a significant maternal age effect (P < 0.01) and for encephalocele a parity effect (P < 0.02); and (3) no significant relationship with father's occupational class for either anencephalus or encephalocele but a marginally significant (P < 0.05) inverse association for spina bifida when a statistic based on ordinal relationships was used. Findings supporting the importance of genetic factors in etiology included: (1) a high percentage of males; (2) a higher twin concordance rate than in high-prevalence populations; and (3) an anencephalus rate among blacks comparable with rates for blacks in other United States populations. Our findings in conjunction with those from other areas and times of low prevalence suggest environmental factors play a relatively insignificant role in the etiology of NTDs in such populations.

  2. The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

    Directory of Open Access Journals (Sweden)

    Matthieu Raveau

    2012-05-01

    Full Text Available Down syndrome (DS leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better understand these defects, we defined electrocardiogram (ECG with a precordial set-up, and we found conduction defects and modifications in wave shape, amplitudes, and durations in Ts65Dn mice. By using a genetic approach consisting of crossing Ts65Dn mice with Ms5Yah mice monosomic for the App-Runx1 genetic interval, we showed that the Ts65Dn viability and ECG were improved by this reduction of gene copy number. Whole-genome expression studies confirmed gene dosage effect in Ts65Dn, Ms5Yah, and Ts65Dn/Ms5Yah hearts and showed an overall perturbation of pathways connected to post-natal lethality (Coq7, Dyrk1a, F5, Gabpa, Hmgn1, Pde10a, Morc3, Slc5a3, and Vwf and heart function (Tfb1m, Adam19, Slc8a1/Ncx1, and Rcan1. In addition cardiac connexins (Cx40, Cx43 and sodium channel sub-units (Scn5a, Scn1b, Scn10a were found down-regulated in Ts65Dn atria with additional down-regulation of Cx40 in Ts65Dn ventricles and were likely contributing to conduction defects. All these data pinpoint new cardiac phenotypes in the Ts65Dn, mimicking aspects of human DS features and pathways altered in the mouse model. In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn. These results might lead to new therapeutic strategies to improve the care of DS people.

  3. Birth defects in Norway by levels of external and food-based exposure to radiation from Chernobyl

    Energy Technology Data Exchange (ETDEWEB)

    Lie, R.T.; Irgens, L.M.; Skjaerven, R.; Reitan, J.B.; Strand, P.; Strand, T. (Medical Birth Registry of Norway, University of Bergen (Norway))

    1992-08-15

    In Norway, external doses of radiation resulting from fallout from the Chernobyl nuclear accident were estimated from detailed measurements, including soil deposition patterns. Internal doses were estimated from measurements of radioactive cesium in meat and milk supplies. The doses were calculated as average monthly doses for each of 454 municipalities during 36 consecutive months after the accident in spring 1986. Prospectively collected data on all newborns listed in the Medical Birth Registry of Norway who were conceived in the period May 1983-April 1989 were used to assess possible dose-response relations between estimated external and food-based exposures and congenital malformations and some other conditions. A positive association was observed between total radiation dose (external plus food-based) and hydrocephaly, while a negative association was observed for Down's syndrome. However, an important conclusion of the study was that no associations were found for conditions previously reported to be associated with radiation, i.e., small head circumference, congenital cataracts, anencephaly, spina bifida, and low birth weight. Potential sources of bias, including exposure misclassification and incomplete ascertainment of cases, are discussed.

  4. Defeitos congênitos no Município do Rio de Janeiro, Brasil: uma avaliação através do SINASC (2000-2004 Birth defects in Rio de Janeiro, Brazil: an evaluation through birth certificates (2000-2004

    Directory of Open Access Journals (Sweden)

    Fernando Antônio Ramos Guerra

    2008-01-01

    Full Text Available Avaliou-se a ocorrência de defeitos congênitos em nascidos vivos no Município do Rio de Janeiro, Brasil, com base no Sistema de Informações sobre Nascidos Vivos (SINASC, no período de 1º de janeiro de 2000 a 31 de dezembro de 2004. Através de um estudo seccional e descritivo, estudaram-se as variáveis relativas aos defeitos congênitos (presença e aparelho ou sistema acometido, aos serviços de saúde, às mães, às gestações, aos recém-natos e aos partos. Constatou-se uma prevalência de defeitos congênitos de 83/10 mil nascidos vivos. Os sistemas orgânicos mais afetados foram o osteomuscular, nervoso central, genital, as fendas lábio-palatinas e as anomalias cromossômicas. A maioria dos casos nasceu nas maternidades municipais e na rede privada, e maior prevalência de defeitos congênitos ocorreu no Instituto Fernandes Figueira da Fundação Oswaldo Cruz. Os defeitos congênitos foram mais prevalentes entre os filhos de mulheres mais velhas e menos instruídas. O percentual de casos ignorados foi alto, chegando a 21% em algumas maternidades. Uma maior divulgação das informações do SINASC sobre defeitos congênitos deveria ser estimulada. Estudos de confiabilidade são recomendados para melhor aproveitamento das informações.To evaluate the occurrence of birth defects in the city of Rio de Janeiro, Brazil, using the Live Birth Information System (SINASC, we performed a cross-sectional study on all live newborns with birth defects from January 1, 2000, to December 31, 2004. The variables referred to birth defects (presence and system affected, type of health service, mothers, gestations, live births, and deliveries. Prevalence of birth defects was 83/10,000 live births. The most frequent birth defects involved the musculoskeletal system, central nervous system, cleft lip and palate, and chromosomal anomalies. The majority of cases were born in public (municipal and private maternity hospitals, with the highest prevalence

  5. Raised Frequency of Central Nervous System Malformations Related to Zika Virus Infection in Two Birth Defects Surveillance Systems in Bogotá and Cali, Colombia.

    Science.gov (United States)

    Hurtado-Villa, Paula; Puerto, Angie K; Victoria, Salomé; Gracia, Gloria; Guasmayán, Lesly; Arce, Patricia; Álvarez, Gilberto; Blandón, Esperanza; Rengifo, Nubia; Holguín, Jorge A; Durán, Alexander; Zarante, Ignacio

    2017-07-01

    Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. Colombia has been experiencing an epidemic wave of Zika infection, starting approximately in October 2015. Here we document the trends of microcephaly and severe CNS malformations in two major cities in Colombia from 2012 through 2016, tracking the epidemiologic curve from before through the major Zika epidemic so far. The study included neural tube defects (anencephaly, spina bifida, encephalocele), holoprosencephaly, and hydrocephaly. In 2016, rates of microcephaly appeared to start increasing around May (8 months after the reported start of the Zika virus epidemic), peaking in July, and declining through December 2016 to levels close to those reported in May 2016. If these estimates are generalizable to the 2016 birth cohort in the cities of Cali and Bogota, then 121 cases of severe microcephaly associated with Zika virus epidemic would be expected in both cities and 588 cases in Colombia for 2016. The occurrence of microcephaly appears to have increased nearly four-fold in two large cities in Colombia, concurrently with the reported Zika virus epidemic in the country. For other major CNS anomalies the evidence is less clear, and further studies are indicated.

  6. Assessing the Risk of Birth Defects Associated with Exposure to Fixed-Dose Combined Antituberculous Agents during Pregnancy in Rats

    Directory of Open Access Journals (Sweden)

    O. Awodele

    2012-01-01

    Full Text Available Due to the risks of disease progression and transmission to the newborn, treatment of tuberculosis is often pursued during pregnancy and fixed-dose combined antituberculous agents have been found to be beneficial. Unfortunately, there is paucity of data on the safety of the fixed-dose combined antituberculous drugs during pregnancy. This study intends to assess the teratogenic effect of fixed-dose combined antituberculous drugs on the organogenesis stage of fetal development and also investigate the possible roles of vitamin C in modulating the teratogenic effects of these agents on the fetus using animal model. Pregnant rats were divided into 3 groups with 12 animals per group: group 1 received distilled water (10 mL/kg orally; group 2 received 51.4 mg/kg/day of fixed-dose combined antituberculous agents orally; group 3 received 51.4 mg/kg/day of fixed-dose combined antituberculous agents plus vitamin C (10 mg/kg/day orally. Six rats in each group were randomly selected and sacrificed on day 20 by cervical dislocation prior to day 21 of gestation, and the foetuses were harvested through abdominal incision for physical examination. Blood samples were collected from the 1st filial rats of the remaining six animals for biochemical and hematological examination. The liver, kidney, heart, and brain of all the sacrificed animals were used for histopathological examination. There were significant (≤0.05 low birth weights of the foetuses of the animals that were treated with fixed-dose combined antituberculous agents. The haematological parameters also revealed a reduction in the platelets counts and neutrophiles at the first filial generation. Significant (≤0.05 elevations in the levels of aspartate aminotransferase (AST and alkaline phosphatase (ALP in the foetuses of the animals treated with fixed-dose combined antituberculous agents were also observed. However, the combination of vitamin C with fixed-dose combined antituberculous agents

  7. Birth defects after exposure to misoprostol in the first trimester of pregnancy: prospective follow-up study.

    Science.gov (United States)

    Vauzelle, Catherine; Beghin, Delphine; Cournot, Marie-Pierre; Elefant, Elisabeth

    2013-04-01

    Misoprostol during the first trimester of pregnancy is associated with a specific malformative pattern (Moebius sequence and limb defects) whose incidence remains unknown. Data originate mostly from illegal use for abortion and are mainly retrospective. The present prospective controlled study analyses outcomes of first trimester misoprostol exposures after medical prescriptions. Malformation rate was higher among 236 pregnancies exposed before 12 gestational weeks (4%) than in 255 controls (1.8%), although not statistically significant (OR=2.2 [95% CI=0.6-7.7]). Three malformations (2%) in the exposed group were consistent with the misoprostol malformative pattern. This is the largest prospective study on first trimester misoprostol exposure and the first one relying on prescriptions. A trend toward a doubling of the overall rate of malformations was observed and for the first time an estimation of the incidence of misoprostol specific spectrum is proposed (2%). Brainstem injuries including severe trismus might be added to this specific pattern. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Do changing levels of maternal exercise during pregnancy affect neonatal adiposity? Secondary analysis of the babies after SCOPE: evaluating the longitudinal impact using neurological and nutritional endpoints (BASELINE) birth cohort (Cork, Ireland)

    Science.gov (United States)

    Norris, Tom; McCarthy, Fergus P; Khashan, Ali S; Murray, Deidre M; Kiely, Mairead; Hourihane, Jonathan O’B; Baker, Philip N; Kenny, Louise C

    2017-01-01

    Objective To investigate whether changing levels of exercise during pregnancy are related to altered neonatal adiposity. Design Secondary analysis of data from a prospective cohort study. Setting Cork, Ireland. Participants 1200 mother–infant pairs recruited as part of a prospective birth cohort, Babies After SCOPE: Evaluating the Longitudinal Impact Using Neurological and Nutritional Endpoints (BASELINE). Main outcome measures Neonatal adiposity was assessed within several days of birth using air displacement plethysmography (PEAPOD). Per cent body fat (BF%) as a continuous outcome and a pair of dichotomous variables; high or low adiposity, representing BF% >90th or exercise and the respective outcomes. Results Crude analysis revealed no association between a changing level of exercise (since becoming pregnant) at 15 weeks’ gestation and any of the outcomes (BF%, low adiposity and high adiposity). At 20 weeks’ gestation, analyses revealed that relative to women who do not change their exercise level up to 20 weeks, those women who decreased their exercise level were more likely to give birth to a neonate with adiposity above the 90th centile (OR 1.62, 95% CI 1.07 to 2.46). This association was maintained after adjustment for putative confounders (OR 1.62, 95% CI 1.06 to 2.47). Conclusions We observed a possible critical period for the association between changing exercise levels and neonatal adiposity, with no association observed with exercise recall for the first 15 weeks of gestation, but an association with a decreasing level of exercise between 15 and 20 weeks. These results should be interpreted in line with the limitations of the study and further studies utilising objectively measured estimates of exercise are required in order to replicate these findings. Trial registration number NCT01498965. PMID:29196482

  9. Mortalidad por defectos al nacimiento en menores de 5 años de edad en México de 1998 a 2006 Birth defects mortality in five-year-old minors of age, Mexico, 1998-2006

    Directory of Open Access Journals (Sweden)

    Javier Valdés-Hernández

    2009-10-01

    Full Text Available OBJETIVOS: Analizar la mortalidad por defectos al nacimiento (DAN entre 1998 y 2006. Seleccionar los municipios con alta mortalidad en OBJECTIVE: To analyze mortality due to birth defects from 1998-2006. To select municipalities with high mortality among children under 5 years of age. MATERIAL AND METHODS: The source of information was mortality records from vital statistics collected by SSA/INEGI. We used the 2005 Municipal Geostatistical Framework by INEGI and SIGEPI for the spatial analysis. The selection criteria were municipalities with 80% and over of deaths due to birth defects. RESULTS: Deaths diminished 8% during 1998-2006 and rates decreased 20%. A total of 42.57% - 48% of deaths are due to circulatory system defects and 13.69% - 19.39% are due to the nervous system; the former rose 4% and the latter fell 32%. Eighty percent or more occur in children under 5 years and the rate in this group fell 8.63%. A total of 1 025 (41.82% municipalities are priorities, 104 (10.14% are high and 102 (9.95% are very high priorities, where 66% of deaths occur among children under 5 years old. DISCUSSION: The interventions to decrease mortality due to birth defects should be directed towards one-year-old children (75% and towards 8.4% of the municipalities that are a very high priority, since they represent 66% of the deaths.

  10. A STUDY ON PREVAL E NCE OF BIRTH DEFECTS AND ITS ASSOCIATION WITH RISK FACTORS IN FAKHRUDHIN ALI AH MED MEDICAL COLLEGE AND HOSPITAL

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    Alpana

    2015-07-01

    Full Text Available OBJECTIVE: Congenital anomalies or Birth Defects are a global problem. It is the most common cause of disability in developed and developing countries. This study aims to evaluate the overall prevalence of clinically detectable congenital anomalies in newborns along with the different forms of congenital anomalies and associated risk factors if any over a period of one year. MATERIALS AND METHOD S: I t’s an observational analytical cross sectional type of study. Seven thousand seven hundred and ninety eight babies born during the period from 1 st Nov, 2013 to 31 st Oct, 2014 were analyzed. Details of cases were recorded after parent’s interviews, clinical, radiological and laboratory evaluations. RESULTS: In our study, we have found that out of the total no. of 7798 babies born during the said period, the total number of congenital anomalies found were 53 0.7%. Cleft lip and palate was the most common anomaly followed by clubfoot. System wise, congenital anomaly of the musculoskeletal system was the highest (45.3%. A male preponderance is seen with M:F = 4:3. Maximum number of anomalies was found in the 20 - 25 y rs of age group. Moreover, anomalies were found more in primi gravida. Various risk factors were associated in 9 numbers of cases out of 53. CONCLUSIONS: Prevalence of congenital anomaly was found to be 0.7% and therefore awareness about preventable risk f actors should be created and early prenatal diagnosis and management of anomalies is recommended.

  11. Fear of birth defects is a major barrier to soil-transmitted helminth treatment (STH for pregnant women in the Philippines.

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    Emily R Insetta

    Full Text Available The World Health Organization recommends anthelminthic treatment for pregnant women after the first trimester in soil-transmitted helminth (STH endemic regions to prevent adverse maternal-fetal consequences. Although studies have shown the high prevalence of infection in the Philippines, no research has evaluated deworming practices. We hypothesized that pregnant women are not receiving deworming treatment and we aimed to identify barriers to World Health Organization guideline implementation. We conducted key informant interviews with local Department of Health (DOH administrators, focus group discussions with nurses, midwives, and health care workers, and knowledge, attitudes, and practices surveys with women of reproductive age to elicit perspectives about deworming during pregnancy. Key informant interviews revealed that healthcare workers were not deworming pregnant women due to inadequate drug supply, infrastructure and personnel as well as fear of teratogenicity. Focus group discussions showed that healthcare workers similarly had not implemented guidelines due to infrastructure challenges and concerns for fetal malformations. The majority of local women believed that STH treatment causes side effects (74.8% as well as maternal harm (67.3% and fetal harm (77.9%. Women who were willing to take anthelminthics while pregnant had significantly greater knowledge as demonstrated by higher Treatment Scores (mean rank 146.92 versus 103.1, z = -4.40, p<0.001 and higher Birth Defect Scores (mean rank 128.09 versus 108.65, z = -2.43, p = 0.015. This study concludes that World Health Organization guidelines are not being implemented in the Philippines. Infrastructure, specific protocols, and education for providers and patients regarding anthelminthic treatment are necessary for the successful prevention of STH morbidity and mortality among pregnant women.

  12. Reducing Risks of Birth Defects

    Science.gov (United States)

    ... a mild rash and a low fever. Having rubella during pregnancy can cause miscarriage or result in deafness, intellectual ... body fat. Preterm: Born before 37 weeks of pregnancy. Rubella: A virus that can be passed to the ...

  13. Embryos, genes, and birth defects

    National Research Council Canada - National Science Library

    Ferretti, Patrizia

    2006-01-01

    ... Structural anomalies The genesis of chromosome abnormalities Embryo survival The cause of high levels of chromosome abnormality in human embryos Relative parental risks - age, translocations, inversions, gonadal and germinal mosaics 33 33 34 35 36 44 44 45 4 Identification and Analysis of Genes Involved in Congenital Malformation Syndromes Peter J. Scambler Ge...

  14. Adult neurology training during child neurology residency.

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    Schor, Nina F

    2012-08-21

    As it is currently configured, completion of child neurology residency requires performance of 12 months of training in adult neurology. Exploration of whether or not this duration of training in adult neurology is appropriate for what child neurology is today must take into account the initial reasons for this requirement and the goals of adult neurology training during child neurology residency.

  15. Avaliação neurológica de recém-nascidos pré-termo de muito baixo peso com displasia broncopulmonar Neurological assessment of very low birth weight infants with bronchopulmonary dysplasia

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    Tathiana Ghisi de Souza

    2009-03-01

    Full Text Available OBJETIVO: Descrever e comparar a avaliação neurológica e comportamental de recém-nascidos pré-termos com e sem displasia broncopulmonar (DBP. MÉTODOS: Recém-nascidos prematuros com peso ao nascer inferior a 1500g e idade gestacional menor de 32 semanas foram avaliados com 40 semanas de idade gestacional corrigida, no Centro de Atenção Integral à Saúde da Mulher da Universidade Estadual de Campinas. Utilizou-se a Avaliação Neurológica de Dubowitz, com 29 itens divididos em seis categorias: tônus, padrões de tônus, reflexos, movimentos, sinais anormais e comportamento. O estado de consciência do recém-nascido foi graduado segundo Brazelton (1973. Utilizaram-se os testes do qui-quadrado e exato de Fischer para variáveis qualitativas e o de Mann-Whitney para as numéricas não-paramétricas, com nível de significância de 5%. RESULTADOS: No período de janeiro de 2005 a setembro de 2007, 24 recém-nascidos, 12 com DBP e 12 controles, com idade gestacional ao nascer de 28±1 semana e peso de 884±202g no grupo com DBP e 31±1 semana e 1156±216g no Grupo Controle foram avaliados. Dos 29 itens avaliados, 18 foram homogêneos entre os grupos e a pontuação geral dos dois grupos não apresentou diferença (p=0,30. Observou-se maior anormalidade neurológica no grupo com DBP em oito itens e, no Grupo Controle, em três itens. CONCLUSÕES: A comparação da avaliação neurológica de Dubowitz de recém-nascidos pré-termos com e sem DBP não apresentou diferença significante com 40 semanas de idade gestacional corrigida. Nas categorias reflexos e postura/tônus, observou-se tendência a anormalidade no grupo DBP.OBJECTIVE: To compare the neurological assessment of preterm newborn infants with and without bronchopulmonary dysplasia (BPD. METHODS: Preterm newborn infants with birth weight less than 1,500g and gestational age less than 32 weeks were evaluated by Dubowitz Method at 40 weeks of corrected gestational age. All infants

  16. Vital Signs: Update on Zika Virus-Associated Birth Defects and Evaluation of All U.S. Infants with Congenital Zika Virus Exposure - U.S. Zika Pregnancy Registry, 2016.

    Science.gov (United States)

    Reynolds, Megan R; Jones, Abbey M; Petersen, Emily E; Lee, Ellen H; Rice, Marion E; Bingham, Andrea; Ellington, Sascha R; Evert, Nicole; Reagan-Steiner, Sarah; Oduyebo, Titilope; Brown, Catherine M; Martin, Stacey; Ahmad, Nina; Bhatnagar, Julu; Macdonald, Jennifer; Gould, Carolyn; Fine, Anne D; Polen, Kara D; Lake-Burger, Heather; Hillard, Christina L; Hall, Noemi; Yazdy, Mahsa M; Slaughter, Karnesha; Sommer, Jamie N; Adamski, Alys; Raycraft, Meghan; Fleck-Derderian, Shannon; Gupta, Jyoti; Newsome, Kimberly; Baez-Santiago, Madelyn; Slavinski, Sally; White, Jennifer L; Moore, Cynthia A; Shapiro-Mendoza, Carrie K; Petersen, Lyle; Boyle, Coleen; Jamieson, Denise J; Meaney-Delman, Dana; Honein, Margaret A

    2017-04-07

    In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidence of possible recent Zika virus infection reported to the USZPR from January 15 to December 27, 2016. Birth defects potentially associated with Zika virus infection during pregnancy include brain abnormalities and/or microcephaly, eye abnormalities, other consequences of central nervous system dysfunction, and neural tube defects and other early brain malformations. During the analysis period, 1,297 pregnant women in 44 states were reported to the USZPR. Zika virus-associated birth defects were reported for 51 (5%) of the 972 fetuses/infants from completed pregnancies with laboratory evidence of possible recent Zika virus infection (95% confidence interval [CI] = 4%-7%); the proportion was higher when restricted to pregnancies with laboratory-confirmed Zika virus infection (24/250 completed pregnancies [10%, 95% CI = 7%-14%]). Birth defects were reported in 15% (95% CI = 8%-26%) of fetuses/infants of completed pregnancies with confirmed Zika virus infection in the first trimester. Among 895 liveborn infants from pregnancies with possible recent Zika virus infection, postnatal neuroimaging was reported for 221 (25%), and Zika virus testing of at least one infant specimen was reported for 585 (65%). These findings highlight why pregnant women should avoid Zika virus exposure. Because the full clinical spectrum of congenital Zika virus infection is not yet known, all infants born to women with laboratory evidence of possible recent Zika virus infection during pregnancy should receive postnatal

  17. Vital Signs: Update on Zika Virus–Associated Birth Defects and Evaluation of All U.S. Infants with Congenital Zika Virus Exposure — U.S. Zika Pregnancy Registry, 2016

    Science.gov (United States)

    Reynolds, Megan R.; Jones, Abbey M.; Petersen, Emily E.; Lee, Ellen H.; Rice, Marion E.; Bingham, Andrea; Ellington, Sascha R.; Evert, Nicole; Reagan-Steiner, Sarah; Oduyebo, Titilope; Brown, Catherine M.; Martin, Stacey; Ahmad, Nina; Bhatnagar, Julu; Macdonald, Jennifer; Gould, Carolyn; Fine, Anne D.; Polen, Kara D.; Lake-Burger, Heather; Hillard, Christina L.; Hall, Noemi; Yazdy, Mahsa M.; Slaughter, Karnesha; Sommer, Jamie N.; Adamski, Alys; Raycraft, Meghan; Fleck-Derderian, Shannon; Gupta, Jyoti; Newsome, Kimberly; Baez-Santiago, Madelyn; Slavinski, Sally; White, Jennifer L.; Moore, Cynthia A.; Shapiro-Mendoza, Carrie K.; Petersen, Lyle; Boyle, Coleen; Jamieson, Denise J.; Meaney-Delman, Dana; Adair, Jennifer; Ruberto, Irene; Haselow, Dirk T.; Im, Lucille; Jilek, Wendy; Lehmann, Monica S.; Olney, Richard; Porse, Charsey Cole; Ramstrom, Karen C.; Sowunmi, Similoluwa; Marzec, Natalie S.; Davis, Karin; Esponda-Morrison, Brenda; Fraser, M. Zachariah; O'Connor, Colleen Ann; Chung, Wendy; Richardson, Folasuyi; Sexton, Taylor; Stocks, Meredith E.; Woldai, Senait; Bundek, Amanda M.; Zambri, Jennifer; Goldberg, Cynthia; Eisenstein, Leah; Jackson, Jennifer; Kopit, Russell; Logue, Teresa; Mendoza, Raphael; Feldpausch, Amanda; Graham, Teri; Mann, Sylvia; Park, Sarah Y.; Carter, Kris Kelly; Potts, Emily J.; Stevens, Taryn; Simonson, Sean; Tonzel, Julius L.; Davis, Shari; Robinson, Sara; Hyun, Judie K.; Jenkins, Erin M.; Piccardi, Monika; Reid, Lawrence D.; Dunn, Julie E.; Higgins, Cathleen A.; Lin, Angela E.; Munshi, Gerlinde S.; Sandhu, Kayleigh; Scotland, Sarah J.; Soliva, Susan; Copeland, Glenn; Signs, Kimberly A.; Schiffman, Elizabeth; Byers, Paul; Hand, Sheryl; Mulgrew, Christine L.; Hamik, Jeff; Koirala, Samir; Ludwig, Lisa A.; Fredette, Carolyn Rose; Garafalo, Kristin; Worthington, Karen; Ropri, Abubakar; Ade, Julius Nchangtachi; Alaali, Zahra S.; Blog, Debra; Brunt, Scott J.; Bryant, Patrick; Burns, Amy E.; Bush, Steven; Carson, Kyle; Dean, Amy B.; Demarest, Valerie; Dufort, Elizabeth M.; Dupuis II, Alan P.; Sullivan-Frohm, Ann; Furuya, Andrea Marias; Fuschino, Meghan; Glaze, Viola H.; Griffin, Jacquelin; Hidalgo, Christina; Kulas, Karen E.; Lamson, Daryl M.; Lance, Lou Ann; Lee, William T.; Limberger, Ronald; Many, Patricia S.; Marchewka, Mary J.; Naizby, Brenda Elizabeth; Polfleit, MaryJo; Popowich, Michael; Rahman, Tabassum; Rem, Timothy; Robbins, Amy E.; Rowlands, Jemma V.; Seaver, Chantelle; Seward, Kimberley A.; Smith, Lou; Sohi, Inderbir; St. George, Kirsten; Souto, Maria I.; Wester, Rachel Elizabeth; Wong, Susan J.; Zeng, Li; Ackelsberg, Joel; Alex, Byron; Ballen, Vennus; Baumgartner, Jennifer; Bloch, Danielle; Clark, Sandhya; Conners, Erin; Cooper, Hannah; Davidson, Alexander; Dentinger, Catherine; Deocharan, Bisram; DeVito, Andrea; Fu, Jie; Hrusa, Gili; Iqbal, Maryam; Iwamoto, Martha; Jones, Lucretia; Kubinson, Hannah; Lash, Maura; Layton, Marcelle; Lee, Christopher T.; Liu, Dakai; McGibbon, Emily; Moy, Morgan; Ngai, Stephanie; Parton, Hilary B.; Peterson, Eric; Poy, Jose; Rakeman, Jennifer; Stoute, Alaina; Thompson, Corinne; Weiss, Don; Westheimer, Emily; Winters, Ann; Younis, Mohammad; Chan, Ronna L.; Cronquist, Laura Jean; Caton, Lisa; Lind, Leah; Nalluswami, Kumar; Perella, Dana; Brady, Diane S.; Gosciminski, Michael; McAuley, Patricia; Drociuk, Daniel; Leedom, Vinita; Witrick, Brian; Bollock, Jan; Hartel, Marie Bottomley; Lucinski, Loraine Swanson; McDonald, Morgan; Miller, Angela M.; Ponson, Tori Armand; Price, Laura; Nance, Amy E.; Peterson, Dallin; Cook, Sally; Martin, Brennan; Oltean, Hanna; Neary, Jillian; Baker, Melissa A.; Cummons, Kathy; Bryan, Katie; Arnold, Kathryn E.; Arth, Annelise C.; Bollweg, Brigid C.; Cragan, Janet D.; Dawson, April L.; Denison, Amy M.; Dziuban, Eric J.; Estetter, Lindsey; Silva-Flannery, Luciana; Free, Rebecca J.; Galang, Romeo R.; Gary, Joy; Goldsmith, Cynthia S.; Green, Caitlin; Hale, Gillian L.; Hayes, Heather M.; Igbinosa, Irogue; Keating, M. Kelly; Khan, Sumaiya; Kim, Shin Y.; Lampe, Margaret; Lewis, Amanda; Mai, Cara; Martines, Roosecelis Brasil; Miers, Brooke; Moore, Jazmyn; Muehlenbachs, Atis; Nahabedian, John; Panella, Amanda; Parihar, Vaunita; Patel, Mitesh M.; Rabeneck, D. Brett; Rasmussen, Sonja A.; Ritter, Jana M.; Rollin, Dominique C.; Sanders, Jeanine H.; Shieh, Wun-Ju; Simeone, Regina M.; Simon, Elizabeth L.; Sims, John R.; Spivey, Pamela J.; Talley-McRae, Helen; Tshiwala, Alphonse K.; VanMaldeghem, Kelley; Viens, Laura; Wainscott-Sargent, Anne; Williams, Tonya; Zaki, Sherif

    2017-01-01

    Background In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. Methods This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidence of possible recent Zika virus infection reported to the USZPR from January 15 to December 27, 2016. Birth defects potentially associated with Zika virus infection during pregnancy include brain abnormalities and/or microcephaly, eye abnormalities, other consequences of central nervous system dysfunction, and neural tube defects and other early brain malformations. Results During the analysis period, 1,297 pregnant women in 44 states were reported to the USZPR. Zika virus–associated birth defects were reported for 51 (5%) of the 972 fetuses/infants from completed pregnancies with laboratory evidence of possible recent Zika virus infection (95% confidence interval [CI] = 4%–7%); the proportion was higher when restricted to pregnancies with laboratory-confirmed Zika virus infection (24/250 completed pregnancies [10%, 95% CI = 7%–14%]). Birth defects were reported in 15% (95% CI = 8%–26%) of fetuses/infants of completed pregnancies with confirmed Zika virus infection in the first trimester. Among 895 liveborn infants from pregnancies with possible recent Zika virus infection, postnatal neuroimaging was reported for 221 (25%), and Zika virus testing of at least one infant specimen was reported for 585 (65%). Conclusions and Implications for Public Health Practice These findings highlight why pregnant women should avoid Zika virus exposure. Because the full clinical spectrum of congenital Zika virus infection is not yet known, all infants born to women with laboratory

  18. Rare birth defects associated with Morgagni hernia and segmental aplasia of uterine horn in bitch: Case reportDefeitos congênitos raros em cadela – relato de caso

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    Ricardo Santana de Lima

    2013-09-01

    Full Text Available Birth defects, deformities or abnormalities are terms used to describe developmental defects present at birth, most of which are rare in bitches. We report the case of a six-month old mongrel bitch corpse, which, when subjected to an anatomotopographic study revealed the presence of rare birth defects as Morgagni hernia and segmental aplasia of the right uterine horn with its attachment to the transverses muscle of abdominis. In association with HM, we observed the presence of dextrocardia and a defect of the abdominal wall supraumbilical characteristic of incompletely Pentalogy of Cantrell’s, syndrome so far described only in humans. In association with segmental aplasia of the uterine horn, we observed the ipsilateral presence of the renal hypoplasia and ureteral agenesis. The diagnosis of those abnormalities was based on anatomical findings and confirmed histologically. Despite the rarity and complexity of the abnormalities first described in bitches, the literature suggested that the prognosis may be favorable to the life of the animal. However, early diagnosis is essential to avoid the potential complications of those diseasesDefeitos congênitos, deformidades ou anormalidades são termos usados para descrever defeitos no desenvolvimento presentes ao nascimento. A maioria destes, como a aplasia segmentar uterina, é de ocorrência rara em cadelas. Relata-se o caso de um cadáver de cadela, sem raça definida, de seis meses de idade, que ao ser submetido ao estudo anatomotopográfico revelou a presença de aplasia segmentar uterina (ASU associada à hérnia de Morgagni (HM, agenesia ureteral (AU e hipoplasia renal direita (HR. Além destas anormalidades, foi observada a presença de dextrocardia e de um defeito da parede abdominal supraumbilical, que caracterizam a forma incompleta da pentalogia de Cantrell, só descrita em humanos. O diagnóstico destas anormalidades foi baseado nos achados anatômicos e confirmado histologicamente. A

  19. Confiabilidade das informações das declarações de nascido vivo com registro de defeitos congênitos no Município do Rio de Janeiro, Brasil, 2004 Reliability of birth defect data on birth certificates of Rio de Janeiro, Brazil, 2004

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    Fernando Antônio Ramos Guerra

    2008-02-01

    Full Text Available Avaliou-se a confiabilidade das informações sobre defeitos congênitos contidas nas declarações de nascido vivo do Sistema de Informações sobre Nascidos Vivos (SINASC no Município do Rio de Janeiro, Brasil, no ano de 2004 comparando-as com os prontuários hospitalares destas crianças e de suas mães na internação para o parto. Após a seleção de 24 maternidades do SUS, os tipos de defeitos congênitos constantes nos prontuários foram transcritos em formulários de coleta próprios, codificados com base na CID-10 e comparados com os arquivos do SINASC. Verificou-se uma maior freqüência de defeitos congênitos dos sistemas osteomuscular e nervoso central e percentual de concordância acima de 50% nos aparelhos digestivo, urinário e osteomuscular, órgãos genitais e de anomalias cromossômicas. O kappa ajustado pela prevalência variou conforme as análises para 2 ou 3 dígitos da CID-10, com melhores resultados nos aparelhos osteomuscular, genito-urinário, digestivo e as anomalias cromossômicas e os piores nos sistemas nervoso central e cárdio-circulatório, malformações congênitas da face, olhos pescoço e orelhas e fendas lábio-palatinas. Os resultados encontrados são insatisfatórios e apontam para a necessidade de qualificação do pessoal envolvido no preenchimento das declarações assim como a padronização da codificação dos defeitos congênitos.This study assessed the reliability of birth certificate data related to birth defects in Brazil's Live Birth Information System (SINASC. We selected 24 maternity hospitals in the Unified National Health System (SUS and compared the reports of birth defects from birth certificates with medical records of mothers and live born infants in the city of Rio de Janeiro for the year 2004. After transposing the data to a specific form, the birth defects were coded by types and organ systems and compared to the SINASC data. The most commonly affected organs involved the central

  20. [Child neurology and multimedia technology].

    Science.gov (United States)

    Nihei, Kenji

    2002-01-01

    Methods of computer technology (intelligent technology, IT), such as multimedia and virtual reality, are utilized more and more in all medical fields including child neurology. Advances in the digitalization of individual medical data and multi-media technology have enabled patients to be able to obtain their own medical data by small media and to receive medical treatment at any hospitals even if they are located in distance place. Changes from a doctor oriented to patients oriented medicine is anticipated. It is necessary to store medical data from birth to adulthood and to accumulate epidemiological data of rare diseases such as metabolic diseases or degenerative diseases especially in child neurology, which highly require tele medicine and telecare at home. Moreover, IT may improve in the QOL of patients with neurological diseases and of their families. Cooperation of medicine and engineering is therefore necessary. Results of our experiments on telemedicine, telecare and virtual reality are described.

  1. Shock of birth evaluation of neurologic status of term newborn in the first 48 hours of life Choque do nascimento: avaliação do vigor neurológico do recém-nascido a termo nas primeiras 48 horas de vida

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    Rudimar Dos Santos Riesgo

    1996-09-01

    Full Text Available The shock of birth is a transient depression of muscle tone and deep tendon reflexes seen in newborn babies shortly after birth. We evaluated the shock of birth in a sample of 313 consecutive term newborns at 4, 24 and 48 hours of life. We correlated neurologic findings on examination with maternal, obstetric and perinatal data. Special attention was given to the relationship between the mode of delivery and shock of birth. Of the maternal data, factors associated with the shock of birth were obstetric gestational age, previous gestations, abortions or previous vaginal deliveries. Presence of stained amniotic fluid at birth was associated with the shock of birth. There was also a correlation between shock of birth and newborn sex, birth weight, thoracic circumference and the Battaglia and Lubchenco classification. The shock of birth lasted less than 24 hours in 70% of the newborns and less than 48 hours in 84.3%. We conclude that the mode of delivery, vaginal or cesarean section, did not influence the shock of birth. We also established the duration and factors associated with this phenomenon.O choque do nascimento é uma depressão temporária do tono muscular e reflexos em recém-nascidos. Nós o avaliamos em uma amostra de 313 recém-nascidos a termo, de partos consecutivos, examinados com 4,24 e 48 horas de vida. Correlacionamos os achados do exame neurológico com dados maternos, do parto e do recém-nascido, com ênfase na relação entre o tipo de parto e o choque do nascimento. Dentre os dados maternos, estiveram associados com o choque do nascimento: idade gestacional obstétrica, gestações, abortamentos e partos vaginais prévios. O único dado do parto que esteve associado foi a presença de líquido amniótico não claro. Sexo, peso ao nascimento, perímetro torácico e classificação de Battaglia & Lubchenco foram os dados do recém-nascido que estiveram associados com o evento. O choque do nascimento durou menos de 24 horas em

  2. Historical perspective of Indian neurology

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    Shrikant Mishra

    2013-01-01

    Full Text Available Objective: To chronicle the history of medicine and neurology in India with a focus on its establishment and evolution. Background: The history of neurology in India is divided into two periods: ancient and modern. The ancient period dates back to the mid-second millennium Before Christ (B.C. during the creation of the Ayurvedic Indian system of Medicine, which detailed descriptions of neurological disorders called Vata Vyadhi. The early 20 th century witnessed the birth of modern Indian medicine with the onset of formal physician training at the nation′s first allopathic medical colleges located in Madras (1835, Calcutta (1835 and Mumbai (1848. Prior to India′s independence from Britain in 1947, only 25 medical schools existed in the entire country. Today, there are over 355. In 1951, physicians across the field of neurology and neurosurgery united to create the Neurological Society of India (NSI. Four decades later in 1991, neurologists branched out to establish a separate organization called the Indian Academy of Neurology (IAN. Design/Methods: Information was gathered through literature review using PubMed, MD Consult, OVID, primary texts and research at various academic institutions in India. Results: Neurological disorders were first described in ancient India under Ayurveda. The transition to modern medicine occurred more recently through formal training at medical schools beginning in the 1930′s. Early pioneers and founders of the NSI (1951 include Dr. Jacob Chandy, Dr. B Ramamurthi, Dr. S. T. Narasimhan and Dr. Baldev Singh. Later, Dr. J. S. Chopra, a prominent neurologist and visionary, recognized the need for primary centers of collaboration and subsequently established the IAN (1991. The future of Neurology in India is growing rapidly. Currently, there are 1100 practicing neurologists and more than 150 post-graduate trainees who join the ranks every year. As the number of neurologists rises across India, there is an increase in

  3. Historical perspective of Indian neurology

    Science.gov (United States)

    Mishra, Shrikant; Trikamji, Bhavesh; Singh, Sandeep; Singh, Parampreet; Nair, Rajasekharan

    2013-01-01

    Objective: To chronicle the history of medicine and neurology in India with a focus on its establishment and evolution. Background: The history of neurology in India is divided into two periods: ancient and modern. The ancient period dates back to the mid-second millennium Before Christ (B.C.) during the creation of the Ayurvedic Indian system of Medicine, which detailed descriptions of neurological disorders called Vata Vyadhi. The early 20th century witnessed the birth of modern Indian medicine with the onset of formal physician training at the nation's first allopathic medical colleges located in Madras (1835), Calcutta (1835) and Mumbai (1848). Prior to India's independence from Britain in 1947, only 25 medical schools existed in the entire country. Today, there are over 355. In 1951, physicians across the field of neurology and neurosurgery united to create the Neurological Society of India (NSI). Four decades later in 1991, neurologists branched out to establish a separate organization called the Indian Academy of Neurology (IAN). Design/Methods: Information was gathered through literature review using PubMed, MD Consult, OVID, primary texts and research at various academic institutions in India. Results: Neurological disorders were first described in ancient India under Ayurveda. The transition to modern medicine occurred more recently through formal training at medical schools beginning in the 1930's. Early pioneers and founders of the NSI (1951) include Dr. Jacob Chandy, Dr. B Ramamurthi, Dr. S. T. Narasimhan and Dr. Baldev Singh. Later, Dr. J. S. Chopra, a prominent neurologist and visionary, recognized the need for primary centers of collaboration and subsequently established the IAN (1991). The future of Neurology in India is growing rapidly. Currently, there are 1100 practicing neurologists and more than 150 post-graduate trainees who join the ranks every year. As the number of neurologists rises across India, there is an increase in the amount of

  4. Estudo de prevalência de defeitos congênitos no Vale do Paraíba Paulista Prevalence study of birth defects in Vale do Paraíba, São Paulo, Brazil

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    Cilene Otaviano Pinto

    2007-09-01

    Full Text Available OBJETIVO: Estimar a prevalência de anomalias congênitas no Vale do Paraíba Paulista em 2002 e 2003. MÉTODOS: Estudo transversal com base em dados constantes na Declaração de Nascido Vivo (DNV, cujas informações estavam no portal da Secretaria da Saúde do Estado de São Paulo. As malformações foram descritas de acordo com o capítulo XVII do Código Internacional de Doenças (CID 10, referente a variáveis maternas e do recém-nascido. A variável desfecho (dependente foi a presença de anomalia congênita; as demais informações das mães e do recém-nascido constantes na DNV (variáveis independentes foram analisadas para estimar as associações entre elas e a variável desfecho. Utilizou-se o programa Epi-Info 6.04d para análise estatística e o teste do qui-quadrado, do qui-quadrado de tendência linear e o teste t de Student. RESULTADOS: Foram analisados 41.838 dados com informações constantes nas DNVs, sendo identificados 618 (1,5% sem preenchimento do campo correspondente à anomalia congênita e 317 (0,76% nascidos com anomalia congênita. Houve associação positiva de anomalias congênitas com menor duração da gestação, maior número de filhos mortos, tipo de parto, baixo peso ao nascer e menor escore de Apgar. Os sistemas mais afetados foram o osteomuscular e o nervoso. CONCLUSÕES: A prevalência de malformações foi menor que a encontrada em outros estudos, possivelmente por sub-registro de informação.OBJECTIVE: Estimate the prevalence of birth defects in the Vale do Paraíba Paulista, São Paulo - Brazil, during the years of 2002 and 2003. METHODS: Cross-sectional study based on Birth Certificates available in the São Paulo Health Secretary site. The abnormalities were described according to chapter XVII of the International Classification of Diseases and Related Health Problems (ICD 10 for variables related to mothers and infants born alive at birth. The dependent variable was the presence of abnormalities

  5. Advocacy in neurology

    National Research Council Canada - National Science Library

    Pauranik, Apoorva

    2008-01-01

    ...), launched the Neurological Alliance of Ireland, a nationwide coalition of patient advocacy groups and physicians and authored Standards of Care, the "blueprint" for the development of neurological...

  6. Birth Control

    Science.gov (United States)

    Birth control, also known as contraception, is designed to prevent pregnancy. Birth control methods may work in a number of different ... eggs that could be fertilized. Types include birth control pills, patches, shots, vaginal rings, and emergency contraceptive ...

  7. Detection of a Heart Defect in the Fetus

    Science.gov (United States)

    ... Children's Heart Foundation United Network of Organ Sharing Congenital Heart Defects Children and adults can be diagnosed with a heart defect occurring at birth. Learn about the types of defects and available treatment options. Popular Articles ...

  8. Sports neurology topics in neurologic practice

    Science.gov (United States)

    Conidi, Francis X.; Drogan, Oksana; Giza, Christopher C.; Kutcher, Jeffery S.; Alessi, Anthony G.; Crutchfield, Kevin E.

    2014-01-01

    Summary We sought to assess neurologists' interest in sports neurology and learn about their experience in treating sports-related neurologic conditions. A survey was sent to a random sample of American Academy of Neurology members. A majority of members (77%) see at least some patients with sports-related neurologic issues. Concussion is the most common sports-related condition neurologists treat. More than half of survey participants (63%) did not receive any formal or informal training in sports neurology. At least two-thirds of respondents think it is very important to address the following issues: developing evidence-based return-to-play guidelines, identifying risk factors for long-term cognitive-behavioral sequelae, and developing objective diagnostic criteria for concussion. Our findings provide an up-to-date view of the subspecialty of sports neurology and identify areas for future research. PMID:24790800

  9. Prevalence of Birth Defects Among Infants of Gulf War Veterans in Arkansas, Arizona, California, Georgia, Hawaii, and Iowa, 1989-1993

    Science.gov (United States)

    2003-01-01

    data on dextrocardia, other chromosomal female NDVs, GWV women were significantly younger, anomalies, and Goldenhar syndrome were not available, more...defect 0 6 29.9 (12.2-68.5) Reduction deformity, upper limbs 0 1 5.0 (0.3-32.3) Reduction deformity, lower limbs 0 1 5.0 (0.3-32.3) Goldenhar syndrome 0...limbs 2 2.9 (0.5-11.7) 6 3.3 (1.4-7.7) 0.9 (0.2-4.3) Reduction deformity, lower limbs 2 2.9 (0.5-11.7) 4 2.2 (0.7-6.1) 1.3 (0.2-7.1) Goldenhar syndrome 0

  10. Neurology and neurologic practice in China.

    Science.gov (United States)

    Shi, Fu-Dong; Jia, Jian-Ping

    2011-11-29

    In the wake of dramatic economic success during the past 2 decades, the specialized field of neurology has undergone a significant transformation in China. With an increase in life expectancy, the problems of aging and cognition have grown. Lifestyle alterations have been associated with an epidemiologic transition both in the incidence and etiology of stroke. These changes, together with an array of social issues and institution of health care reform, are creating challenges for practicing neurologists throughout China. Notable problems include overcrowded, decrepit facilities, overloaded physician schedules, deteriorating physician-patient relationships, and an insufficient infrastructure to accommodate patients who need specialized neurologic care. Conversely, with the creation of large and sophisticated neurology centers in many cities across the country, tremendous opportunities exist. Developments in neurologic subspecialties enable delivery of high-quality care. Clinical and translational research based on large patient populations as well as highly sophisticated technologies are emerging in many neurologic centers and pharmaceutical companies. Child neurology and neurorehabilitation will be fast-developing subdisciplines. Given China's extensive population, the growth and progress of its neurology complex, and its ever-improving quality control, it is reasonable to anticipate that Chinese neurologists will contribute notably to unraveling the pathogenic factors causing neurologic diseases and to providing new therapeutic solutions.

  11. Birthing Healthy Babies (A Minute of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    2018-01-11

    Birth defects are common, costly, and critical. If you’re pregnant or planning to get pregnant, you can take steps to improve your chances of giving birth to a healthy child. This podcast discusses ways to prevent birth defects.  Created: 1/11/2018 by MMWR.   Date Released: 1/11/2018.

  12. Prevalence and risk factors for neurological disorders in children aged 6 months to 2 years in northern India.

    Science.gov (United States)

    Kumar, Rashmi; Bhave, Anupama; Bhargava, Roli; Agarwal, Girdhar G

    2013-04-01

    To study prevalence and risk factors for neurological disorders--epilepsy, global developmental delay, and motor, vision, and hearing defects--in children aged 6 months to 2 years in northern India. A two-stage community survey for neurological disorders was conducted in rural and urban areas of Lucknow. After initial screening with a new instrument, the Lucknow Neurodevelopment Screen, screen positives and a random proportion of screen negatives were validated using predefined criteria. Prevalence was calculated by weighted estimates. Demographic, socio-economic, and medical risk factors were compared between validated children who were positive and negative for neurological disorders by univariate and logistic regression analysis. Of 4801 children screened (mean age [SD] 15.32mo [5.96]; 2542 males, 2259 females), 196 were positive; 190 screen positives and 269 screen negatives were validated. Prevalence of neurological disorders was 27.92 per 1000 (weighted 95% confidence interval 12.24-43.60). Significant risk factors (p≤0.01) for neurological disorders were higher age in months (p=0.010), lower mean number of appliances in the household (p=0.001), consanguineous marriage of parents (p=0.010), family history of neurological disorder (p=0.001), and infants born exceptionally small (parental description; p=0.009). On logistic regression, the final model included age (p=0.0193), number of appliances (p=0.0161), delayed cry at birth (p=0.0270), postneonatal meningoencephalitis (p=0.0549), and consanguinity (p=0.0801). Perinatal factors, lower socio-economic status, and consanguinity emerged as predictors of neurological disorders. These factors are largely modifiable. © The Authors. Developmental Medicine & Child Neurology © 2013 Mac Keith Press.

  13. DNA oxidation as a potential molecular mechanism mediating drug-induced birth defects: phenytoin and structurally related teratogens initiate the formation of 8-hydroxy-2'-deoxyguanosine in vitro and in vivo in murine maternal hepatic and embryonic tissues.

    Science.gov (United States)

    Liu, L; Wells, P G

    1995-11-01

    A considerable number of teratogens, including the anticonvulsant drug phenytoin and structurally related drugs and environmental chemicals, may be bioactivated by peroxidases, such as prostaglandin H synthase (PHS) and lipoxygenases (LPOs), to a reactive free radical intermediate that initiates birth defects. However, the molecular targets of the reactive free radical intermediates mediating chemical teratogenesis, and hence the fundamental determinants of susceptibility, are poorly understood. In these studies, a teratogenic dose of phenytoin (65 mg/kg), when injected into pregnant CD-1 mice during organogenesis on gestational day 12, initiated the oxidation of DNA in maternal hepatic and embryonic nuclei, forming 8-hydroxy-2'-deoxyguanosine. Significant maternal and embryonic DNA oxidation occurred at 6 and 3 h, respectively, suggesting relative embryonic deficiencies in free radical-related cytoprotective enzymes, although the rates appeared similar. Maximal DNA oxidation in both maternal and embryonic tissues occurred at 6 h, presumably reflecting the balance of DNA oxidation and repair, the latter of which appeared similar in both tissues. Inhibition of phenytoin-initiated embryonic DNA oxidation by the free radical spin trapping agent alpha-phenyl-N-t-butylnitrone (41.5 mg/kg), and by acetylsalicylic acid (10 mg/kg), an inhibitor of the cyclooxygenase component of PHS, was consistent with the previously reported reduction by these inhibitors of phenytoin-initiated murine birth defects. In vitro studies using a horseradish peroxidase (0.5 mg/ml)-H2O2 (5.45 micrograms/ml) bioactivating system for drug-initiated oxidation of 2'-deoxyguanosine (3.74 mM), indicated that the potency of xenobiotic-initiated formation of 8-hydroxy-2'-deoxyguanosine for the structurally related drugs and metabolites phenytoin, 5-(p-hydroxyphenyl)-5-phenylhydantoin, trimethadione, dimethadione, l-mephenytoin, l-nirvanol, d-nirvanol (80 microM each), or thalidomide (64 micro

  14. Physical inactivity affects skeletal muscle insulin signaling in a birth weight-dependent manner

    DEFF Research Database (Denmark)

    Mortensen, Brynjulf; Friedrichsen, Martin; Andersen, Nicoline Resen

    2014-01-01

    We investigated whether physical inactivity could unmask defects in insulin and AMPK signaling in low birth weight (LBW) subjects.......We investigated whether physical inactivity could unmask defects in insulin and AMPK signaling in low birth weight (LBW) subjects....

  15. Birth Control

    Science.gov (United States)

    ... to have sex makes sense Talking to your parents about sex Deciding about sex Birth control Types of birth ... not planned. Some young people are afraid their parents will find out they’re having sex. If you get birth control from a doctor, ...

  16. [Neurorehabilitation, neurology, rehabilitation medicine].

    Science.gov (United States)

    Urbán, Edina; Szél, István; Fáy, Veronika; Dénes, Zoltán; Lippai, Zoltán; Fazekas, Gábor

    2013-05-30

    We have read several publications of great authority on the neurological profession in the last two years in which were expressed assessments of the current situation combined with opinions about neurology and the necessity to reorganize neurological patient care. These articles took up the question of neurorehabilitation too. The authors, who on a daily basis, deal with the rehabilitation of people with disabilities as a consequence of neurological conditions, summarize some important definitions of rehabilitation medicine and the present system of neurological rehabilitation, as it is defined by the rehabilitation profession.

  17. Neurology at the bedside

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Waldemar, Gunhild

    This updated and expanded new edition takes neurology trainees by the hand and guides them through the whole patient encounter - from an efficient neurological history and bedside examination through to differential diagnosis, diagnostic procedures and treatment. At each step the expert authors......, as have new chapters including neurogenetics, neurorehabilitation, neurocritical care and heuristic neurological reasoning. In addition, this second edition now includes more than 100 unique case histories. Neurology at the Bedside, Second Edition is written for neurologists in all stages of training....... Medical students, general practitioners and others with an interest in neurology will also find invaluable information here....

  18. Maternal anxiety is related to infant neurological condition, paternal anxiety is not

    NARCIS (Netherlands)

    Kikkert, Hedwig K.; Middelburg, Karin J.; Hadders-Algra, Mijna

    Background: Parental anxiety and stress may have consequences for infant neurological development. Aims: To study relationships between parental anxiety or well-being and infant neurological development approximately one year after birth. Study design: Longitudinal study of a birth cohort of infants

  19. Chapter 38: American neurology.

    Science.gov (United States)

    Freemon, Frank R

    2010-01-01

    The great formative event in the history of North America, the Civil War of 1861 to 1865, was the stimulus for the development of clinical neurology and the neurosciences. The first neurological research center on the continent was the US Army hospital at Turner's Lane, Philadelphia, PA. Silas Weir Mitchell and his colleagues described causalgia (reflex sympathetic dystrophy), phantom limb sensation, and Horner's syndrome (before Horner). The medical leader of the Northern army was William Hammond. After the conclusion of hostilities, he began a huge clinical practice in New York City. In the United States, clinical neurology began in private practice, unlike Europe, where neurology began in institutions. Hammond's textbook, which first used the term athetosis, was used by a generation of physicians who encountered patients with neurological signs and symptoms. Early in the 20th century, neurological institutions were formed around universities; probably the most famous was the Montreal Neurological Institute founded by Wilder Penfield. The US federal government sponsored extensive research into the function and dysfunction of the nervous system through the Neurological Institute of Neurological Diseases and Blindness, later called the National Institute of Neurological Diseases and Stroke. The government officially classified the final 10 years of the 20th century as the Decade of the Brain and provided an even greater level of research funding.

  20. Birth weight reference percentiles for Chinese.

    Directory of Open Access Journals (Sweden)

    Li Dai

    Full Text Available To develop a reference of population-based gestational age-specific birth weight percentiles for contemporary Chinese.Birth weight data was collected by the China National Population-based Birth Defects Surveillance System. A total of 1,105,214 live singleton births aged ≥28 weeks of gestation without birth defects during 2006-2010 were included. The lambda-mu-sigma method was utilized to generate percentiles and curves.Gestational age-specific birth weight percentiles for male and female infants were constructed separately. Significant differences were observed between the current reference and other references developed for Chinese or non-Chinese infants.There have been moderate increases in birth weight percentiles for Chinese infants of both sexes and most gestational ages since 1980s, suggesting the importance of utilizing an updated national reference for both clinical and research purposes.

  1. International retrospective cohort study of neural tube defects in relation to folic acid recommendations : are the recommendations working?

    NARCIS (Netherlands)

    Botto, LD; Lisi, A; Robert-Gnansia, E; Erickson, JD; Vollset, SE; Mastroiacovo, P; Botting, B; Cocchi, G; de Vigan, C; de Walle, H; Feijoo, M; Irgens, LM; McDonnell, B; Merlob, P; Ritvanen, A; Scarano, G; Siffel, C; Metneki, J; Stoll, C; Smithells, R; Goujard, J

    2005-01-01

    Objective To evaluate the effectiveness of policies and recommendations on folic acid aimed at reducing the occurrence of neural tube defects. Design Retrospective cohort study of births monitored by birth defect registries. Setting 13 birth defects registries monitoring rates of neural tube defects

  2. Genetics of neurological disorders.

    Science.gov (United States)

    Faghihi, Mohammad Ali; Mottagui-Tabar, Salim; Wahlestedt, Claes

    2004-05-01

    Neurological diseases are defined as an inappropriate function of the peripheral or central nervous system due to impaired electrical impulses throughout the brain and/or nervous system that may present with heterogeneous symptoms according to the parts of the system involved in these pathologic processes. Growing evidence on genetic components of neurological disease have been collected during recent years. Genetic studies have opened the way for understanding the underlying pathology of many neurological disorders. The outcome of current intense research into the genetics of neurological disorders will hopefully be the introduction of new diagnostic tools and the discovery of potential targets for new and more effective medications and preventive measures.

  3. Focal neurological deficits

    Science.gov (United States)

    ... or head Electromyogram (EMG), nerve conduction velocities (NCV) MRI of the back, neck, or head Spinal tap Alternative Names Neurological deficits - focal Images Brain References Daroff RB, Jankovic ...

  4. Hypoglycaemia in fasting low birth weight infants in Jos, Nigeria ...

    African Journals Online (AJOL)

    Background/Objective: Low birth weight (LBW) infants are commonly at risk of hypoglycaemia. The prevalence of hypoglycaemia and its neurological features in fasting LBW infants below 24 hours of age was assessed. Methods: Low birth weight (LBW) infants seen within 24 hours of birth who had not fed or received ...

  5. What Are the Types of Birth Defects?

    Science.gov (United States)

    ... Metabolic disorders. These involve problems with certain chemical reactions in the body, such as conditions that limit the body’s ability to rid itself of waste materials or harmful chemicals. Two common metabolic disorders are phenylketonuria and hypothyroidism. Degenerative disorders. ...

  6. Functional neurological disorders: imaging.

    Science.gov (United States)

    Voon, V

    2014-10-01

    Functional neurological disorders, also known as conversion disorder, are unexplained neurological symptoms. These symptoms are common and can be associated with significant consequences. This review covers the neuroimaging literature focusing on functional motor symptoms including motor functioning and upstream influences including self-monitoring and internal representations, voluntariness and arousal and trauma. Copyright © 2014. Published by Elsevier SAS.

  7. Neurological Complications of AIDS

    Science.gov (United States)

    ... the National Library of Medicine’s MedlinePlus Living with HIV/AIDS × What research is being done? The National Institute of Neurological ... the National Library of Medicine’s MedlinePlus Living with HIV/AIDS See More About Research The National Institute of Neurological Disorders and Stroke ( ...

  8. Porphyria and its neurologic manifestations.

    Science.gov (United States)

    Tracy, Jennifer A; Dyck, P James B

    2014-01-01

    Porphyrias are rare disorders resulting from a defect in the heme biosynthetic pathway. They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria as the subtypes associated with neurologic manifestations. The presence of a motor-predominant peripheral neuropathy (axonal predominant), accompanied by gastrointestinal distress and neuropsychiatric manifestations, should be a strong clue to the diagnosis of porphyria. Clinical confirmation can be made through evaluation of urine porphyrins during an exacerbation of disease. While hematin is helpful for acute treatment, long-term effective management requires avoidance of overstimulation of the cytochrome P450 pathway, as well as other risk factor control. © 2014 Elsevier B.V. All rights reserved.

  9. Perinatal death and neurological damage as a sequential chain of poor outcome.

    Science.gov (United States)

    Doi, Koutarou; Sameshima, Hiroshi; Kodama, Yuki; Furukawa, Seishi; Kaneko, Masatoki; Ikenoue, Tsuyomu

    2012-06-01

    We investigated the risk factors of perinatal death and neurological damage. Perinatal death and neurological damage were retrospectively investigated using a population-based study of 108 024 deliveries from 1998 to 2007. Main factors studied were asphyxia, growth restriction and preterm delivery perinatal deaths (4.3/1000) and 220 neurological damages (2.0/1000). Preterm delivery accounted for 50% of perinatal deaths and neurological damage, whereas it constituted 2.6% of total births. Multiple regression analyses showed that prematurity death, neonatal death and neurological damage. Prematurity perinatal death to neurological damage.

  10. Neurologic complications of vaccinations.

    Science.gov (United States)

    Miravalle, Augusto A; Schreiner, Teri

    2014-01-01

    This chapter reviews the most common neurologic disorders associated with common vaccines, evaluates the data linking the disorder with the vaccine, and discusses the potential mechanism of disease. A literature search was conducted in PubMed using a combination of the following terms: vaccines, vaccination, immunization, and neurologic complications. Data were also gathered from publications of the American Academy of Pediatrics Committee on Infectious Diseases, the World Health Organization, the US Centers for Disease Control and Prevention, and the Vaccine Adverse Event Reporting System. Neurologic complications of vaccination are rare. Many associations have been asserted without objective data to support a causal relationship. Rarely, patients with a neurologic complication will have a poor outcome. However, most patients recover fully from the neurologic complication. Vaccinations have altered the landscape of infectious disease. However, perception of risk associated with vaccinations has limited the success of disease eradication measures. Neurologic complications can be severe, and can provoke fear in potential vaccines. Evaluating whether there is causal link between neurologic disorders and vaccinations, not just temporal association, is critical to addressing public misperception of risk of vaccination. Among the vaccines available today, the cost-benefit analysis of vaccinations and complications strongly argues in favor of vaccination. © 2014 Elsevier B.V. All rights reserved.

  11. Cardiomyopathy in neurological disorders.

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Neurology in Asia.

    Science.gov (United States)

    Tan, Chong-Tin

    2015-02-10

    Asia is important as it accounts for more than half of the world population. The majority of Asian countries fall into the middle income category. As for cultural traditions, Asia is highly varied, with many languages spoken. The pattern of neurologic diseases in Asia is largely similar to the West, with some disease features being specific to Asia. Whereas Asia constitutes 60% of the world's population, it contains only 20% of the world's neurologists. This disparity is particularly evident in South and South East Asia. As for neurologic care, it is highly variable depending on whether it is an urban or rural setting, the level of economic development, and the system of health care financing. To help remedy the shortage of neurologists, most counties with larger populations have established training programs in neurology. These programs are diverse, with many areas of concern. There are regional organizations serving as a vehicle for networking in neurology and various subspecialties, as well as an official journal (Neurology Asia). The Asian Epilepsy Academy, with its emphasis on workshops in various locations, EEG certification examination, and fellowships, may provide a template of effective regional networking for improving neurology care in the region. © 2015 American Academy of Neurology.

  13. Neurology and international organizations.

    Science.gov (United States)

    Mateen, Farrah J

    2013-07-23

    A growing number of international stakeholders are engaged with neurologic diseases. This article provides a brief overview of important international stakeholders in the practice of neurology, including global disease-specific programs, United Nations agencies, governmental agencies with international influence, nongovernmental organizations, international professional organizations, large private donors, private-public partnerships, commercial interests, armed forces, and universities and colleges. The continued engagement of neurologists is essential for the growing number of international organizations that can and should incorporate neurologic disease into their global agendas.

  14. Defect branes

    NARCIS (Netherlands)

    Bergshoeff, Eric A.; Ortin, Tomas; Riccioni, Fabio

    2012-01-01

    We discuss some general properties of "defect branes", i.e. branes of co-dimension two, in (toroidally compactified) IIA/IIB string theory. In particular, we give a full classification of the supersymmetric defect branes in dimensions 3

  15. Preterm Birth

    Science.gov (United States)

    ... 3286 After hours (404) 639-2888 Contact Media Preterm Birth Recommend on Facebook Tweet Share Compartir Preterm ... Their Families What are the warning signs of preterm labor? In most cases, preterm labor (labor that ...

  16. Birthing Classes

    Science.gov (United States)

    ... class setting. Some hospitals are beginning to offer online courses, too.Expect to be required to pay ... called The Mongan Method, HypnoBirthing helps women learn self-hypnosis techniques to deliver their babies in a ...

  17. Birth Plans

    Science.gov (United States)

    ... and planning to shop for baby clothes. The reality of labor and birth may seem extremely far ... all women in labor, but many now show increased flexibility in how they handle their patients. Some ...

  18. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje

    2014-01-01

    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...... at evaluating age-related white matter changes (ARWMC) as an independent predictor of the transition to disability (according to Instrumental Activities of Daily Living scale) or death in independent elderly subjects that were followed up for 3 years. At baseline, a standardized neurological examination.......0 years, 45 % males), 327 (51.7 %) presented at the initial visit with ≥1 neurological abnormality and 242 (38 %) reached the main study outcome. Cox regression analyses, adjusting for MRI features and other determinants of functional decline, showed that the baseline presence of any neurological...

  19. Genetics Home Reference: abdominal wall defect

    Science.gov (United States)

    ... are two main types of abdominal wall defects: omphalocele and gastroschisis . Omphalocele is an opening in the center of the ... covering the exposed organs in gastroschisis. Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) ...

  20. Neurological diseases and pain

    OpenAIRE

    Borsook, David

    2011-01-01

    Chronic pain is a frequent component of many neurological disorders, affecting 20–40% of patients for many primary neurological diseases. These diseases result from a wide range of pathophysiologies including traumatic injury to the central nervous system, neurodegeneration and neuroinflammation, and exploring the aetiology of pain in these disorders is an opportunity to achieve new insight into pain processing. Whether pain originates in the central or peripheral nervous system, it frequentl...

  1. Wikipedia and neurological disorders.

    Science.gov (United States)

    Brigo, Francesco; Igwe, Stanley C; Nardone, Raffaele; Lochner, Piergiorgio; Tezzon, Frediano; Otte, Willem M

    2015-07-01

    Our aim was to evaluate Wikipedia page visits in relation to the most common neurological disorders by determining which factors are related to peaks in Wikipedia searches for these conditions. Millions of people worldwide use the internet daily as a source of health information. Wikipedia is a popular free online encyclopedia used by patients and physicians to search for health-related information. The following Wikipedia articles were considered: Alzheimer's disease; Amyotrophic lateral sclerosis; Dementia; Epilepsy; Epileptic seizure; Migraine; Multiple sclerosis; Parkinson's disease; Stroke; Traumatic brain injury. We analyzed information regarding the total article views for 90 days and the rank of these articles among all those available in Wikipedia. We determined the highest search volume peaks to identify possible relation with online news headlines. No relation between incidence or prevalence of neurological disorders and the search volume for the related articles was found. Seven out of 10 neurological conditions showed relations in search volume peaks and news headlines. Six out of these seven peaks were related to news about famous people suffering from neurological disorders, especially those from showbusiness. Identification of discrepancies between disease burden and health seeking behavior on Wikipedia is useful in the planning of public health campaigns. Celebrities who publicly announce their neurological diagnosis might effectively promote awareness programs, increase public knowledge and reduce stigma related to diagnoses of neurological disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. [Neurology and literature].

    Science.gov (United States)

    Iniesta, I

    2010-10-01

    Literature complements medical literature in the academic and clinical development of neurologists. The present article explores the contributions of writers of fiction on neurology. Literary works of fiction with particular reference to neurology. A symbiosis between writers of fiction and doctors has been well recognised. From Shakespeare to Cervantes by way of Dickens and Cela to writer - physicians such as Anton Chekhov or António Lobo Antunes have contributed through their medically informed literature to the better understanding of neurology. Some writers like Dostoevsky, Machado de Assis and Margiad Evans have written about their own experiences with disease thus bringing new insights to medicine. Furthermore, some neurological disorders have been largely based on literary descriptions. For instance, Dostoevsky's epilepsy has been retrospectively analysed by famous neurologists including Freud, Alajouanine or Gastaut, whilst his writings and biography have prompted others like Waxman and Geschwind to describe typical behavioural changes in temporal lobe epilepsy, finding their source of inspiration in Dostoevsky. Likewise, Cirignotta et al have named an unusual type of seizure after the Russian novelist. Inspired by Lewis Carroll, Todd introduced the term Alice in Wonderland Syndrome to refer to visual distortions generally associated with migraine. Writers of fiction offer a humanised perception of disease by contributing new insights into the clinical history, informing about the subjective experience of the illness and helping to eradicate the stigma associated to neurological disorders.

  3. Suicide in Neurologic Illness.

    Science.gov (United States)

    Arciniegas, David B.; Anderson, C. Alan

    2002-11-01

    The risk of attempted or completed suicide is increased in patients with migraine with aura, epilepsy, stroke, multiple sclerosis, traumatic brain injury, and Huntington's disease. Contrary to the general perception that the risk of suicide among patients with Alzheimer's disease and other dementing conditions is low, several reports suggest that the risk of suicide in these patients increases relative to the general population. Some patients at risk for neurologic disorders are also at increased risk for suicide; in particular, the risk of suicide is increased among persons at risk for Huntington's disease, independent of the presence or absence of the Huntington's gene mutation. The risk of attempted or completed suicide in neurologic illness is strongly associated with depression, feelings of hopelessness or helplessness, and social isolation. Additional suicide risk factors in persons with neurologic illness include cognitive impairment, relatively younger age (under 60 years), moderate physical disability, recent onset or change in illness, a lack of future plans or perceived meaning in life, recent losses (personal, occupational, or financial), and prior history of psychiatric illness or suicidal behavior. Substance dependence, psychotic disorders, anxiety disorders, and some personality disorders (eg, borderline personality disorder) may also contribute to increased risk of suicide among persons with neurologic illnesses. Identification and aggressive treatment of psychiatric problems, especially depression, as well as reduction of modifiable suicide risk factors among patients with neurologic illness is needed to reduce the risk of attempted and completed suicide in this population.

  4. Vitamins and neural tube defects

    OpenAIRE

    Harris, Rodney

    1988-01-01

    The use of vitamin supplements by women around the time of conception was examined and compared in those having babies with neural tube defects, those with still births or some other type of malformation, and in women who had normal babies.

  5. Precipitous Birth

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the management of a precipitous birth in the emergency department (ED. The case is also appropriate for teaching of medical students and advanced practice providers, as well as reviewing the principles of crisis resource management, teamwork, and communication. Introduction: Patients with precipitous birth require providers to manage two patients simultaneously with limited time and resources. Crisis resource management skills will be tested once baby is delivered, and the neonate will require assessment for potential neonatal resuscitation. Objectives: At the conclusion of the simulation session, learners will be able to manage women who have precipitous deliveries, as well as perform neonatal assessment and management. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on precipitous birth management and neonatal evaluation.

  6. [Neurological sleep disorders].

    Science.gov (United States)

    Khatami, Ramin

    2014-11-01

    Neurological sleep disorders are common in the general population and may have a strong impact on quality of life. General practitioners play a key role in recognizing and managing sleep disorders in the general population. They should therefore be familiar with the most important neurological sleep disorders. This review provides a comprehensive overview of the most prevalent and important neurological sleep disorders, including Restless legs syndrome (with and without periodic limb movements in sleep), narcolepsy, NREM- and REM-sleep parasomnias and the complex relationship between sleep and epilepsies. Although narcolepsy is considered as a rare disease, recent discoveries in narcolepsy research provided insight in the function of brain circuitries involved in sleep wake regulation. REM sleep behavioral parasomnia (RBD) is increasingly recognized to represent an early manifestation of neurodegenerative disorders, in particular evolving synucleinopathies. Early diagnosis may thus open new perspectives for developing novel treatment options by targeting neuroprotective substances.

  7. The neurological disease ontology.

    Science.gov (United States)

    Jensen, Mark; Cox, Alexander P; Chaudhry, Naveed; Ng, Marcus; Sule, Donat; Duncan, William; Ray, Patrick; Weinstock-Guttman, Bianca; Smith, Barry; Ruttenberg, Alan; Szigeti, Kinga; Diehl, Alexander D

    2013-12-06

    We are developing the Neurological Disease Ontology (ND) to provide a framework to enable representation of aspects of neurological diseases that are relevant to their treatment and study. ND is a representational tool that addresses the need for unambiguous annotation, storage, and retrieval of data associated with the treatment and study of neurological diseases. ND is being developed in compliance with the Open Biomedical Ontology Foundry principles and builds upon the paradigm established by the Ontology for General Medical Science (OGMS) for the representation of entities in the domain of disease and medical practice. Initial applications of ND will include the annotation and analysis of large data sets and patient records for Alzheimer's disease, multiple sclerosis, and stroke. ND is implemented in OWL 2 and currently has more than 450 terms that refer to and describe various aspects of neurological diseases. ND directly imports the development version of OGMS, which uses BFO 2. Term development in ND has primarily extended the OGMS terms 'disease', 'diagnosis', 'disease course', and 'disorder'. We have imported and utilize over 700 classes from related ontology efforts including the Foundational Model of Anatomy, Ontology for Biomedical Investigations, and Protein Ontology. ND terms are annotated with ontology metadata such as a label (term name), term editors, textual definition, definition source, curation status, and alternative terms (synonyms). Many terms have logical definitions in addition to these annotations. Current development has focused on the establishment of the upper-level structure of the ND hierarchy, as well as on the representation of Alzheimer's disease, multiple sclerosis, and stroke. The ontology is available as a version-controlled file at http://code.google.com/p/neurological-disease-ontology along with a discussion list and an issue tracker. ND seeks to provide a formal foundation for the representation of clinical and research data

  8. Neurologic Diseases and Sleep.

    Science.gov (United States)

    Barone, Daniel A; Chokroverty, Sudansu

    2017-03-01

    Sleep disorders and neurologic illness are common and burdensome in their own right; when combined, they can have tremendous negative impact at an individual level as well as societally. The socioeconomic burden of sleep disorders and neurologic illness can be identified, but the real cost of these conditions lies far beyond the financial realm. There is an urgent need for comprehensive care and support systems to help with the burden of disease. Further research in improving patient outcomes in those who suffer with these conditions will help patients and their families, and society in general. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Neurologic Complications in Pregnancy.

    Science.gov (United States)

    Cuero, Mauricio Ruiz; Varelas, Panayiotis N

    2016-01-01

    Pregnant women are subject to the same complications as the general population, as well to specific neurologic complications associated with pregnancy, such as preeclampsia or eclampsia. The hormonal and physiologic changes during pregnancy lead to altered incidences of these complications, which usually present during the late period of pregnancy, labor, or the puerperium. In addition, the treatment of these conditions is different from that of nonpregnant women, because special attention is paid to avoid any abnormalities or death of the fetus. This article discusses the most common of these neurologic complications. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. The neurology literature 2016.

    Science.gov (United States)

    Khoujah, Danya; Chang, Wan-Tsu W; Abraham, Michael K

    2017-09-06

    Emergency neurology is a complex and rapidly changing field. Its evolution can be attributed in part to increased imaging options, debates about optimal treatment, and simply the growth of emergency medicine as a specialty. Every year, a number of articles published in emergency medicine or other specialty journals should become familiar to the emergency physician. This review summarizes neurology articles published in 2016, which the authors consider crucial to the practice of emergency medicine. The articles are categorized according to disease process, with the understanding that there can be significant overlap among articles. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. [Cinema and neurology: early educational applications].

    Science.gov (United States)

    Collado-Vázquez, Susana; Carrillo, Jesús M

    2015-03-01

    Since its earliest days, cinema has been used in the teaching of neurology both to illustrate the professor's explanations and to make learning easier for students. To analyse some of the first applications of cinema to the teaching and learning of neurology. Shortly after the birth of the film projector it became apparent that it could be a valuable aid in teaching medicine, and especially neurology. Initially, actual recordings made by doctors themselves were used, and later documentaries, short films and feature films were employed as means of showing diagnostic and therapeutic methods, as well as different pathological signs, such as movement disorders. The intention was not to replace other methodologies but instead to complement them and to make the process of acquiring knowledge easier. Applying cinema in teaching is a useful way to portray the contents of different subjects, especially in the field of neurology, and to favour the acquisition of both specific and cross-disciplinary competences, with very positive results being obtained among students.

  12. Neurological aspects of eclampsia

    Directory of Open Access Journals (Sweden)

    Jovanović Dejana

    2003-01-01

    Full Text Available The difficult types of preeclampsia and eclampsia are presented with the neurological symptoms. The break of cerebral autoregulation mechanism plays the most important role in pathogenesis of cerebral vasospasm. Nevertheless eclampsia isn’t just an ordinary hypertensive encephalopathy because other pathogenic mechanisms are involved in its appearance. The main neuropathologic changes are multifocal vasogenic edema, perivascular multiple microinfarctions and petechial hemorrhages. Neurological clinical manifestations are convulsions, headache, visual disturbances and rarely other discrete focal neurological symptoms. Eclampsia is a high-risk factor for onset of hemorrhagic or ischemic stroke. This is a reason why neurological diagnostic tests are sometimes needed. The method of choice for evaluation of complicated eclampsia is computerized brain topography that shows multiple areas of hypodensity in occipitoparietal regions. These changes are focal vasogenic cerebral edema. For differential diagnosis of eclampsia and stroke other diagnostic methods can be used - fundoscopic exam, magnetic resonance brain imaging, cerebral angiography and cerebrospinal fluid exam. The therapy of eclampsia considers using of magnesium sulfate, antihypertensive, anticonvulsive and antiedematous drugs.

  13. Wikipedia and neurological disorders

    NARCIS (Netherlands)

    Brigo, Francesco; Igwe, Stanley C.; Nardone, Raffaele; Lochner, Piergiorgio; Tezzon, Frediano; Otte, WM

    2015-01-01

    Our aim was to evaluate Wikipedia page visits in relation to the most common neurological disorders by determining which factors are related to peaks in Wikipedia searches for these conditions. Millions of people worldwide use the internet daily as a source of health information. Wikipedia is a

  14. Astroglia in neurological diseases

    Czech Academy of Sciences Publication Activity Database

    Verkhratsky, Alexei; Rodríguez Arellano, Jose Julio; Parpura, V.

    2013-01-01

    Roč. 8, č. 2 (2013), s. 149-158 ISSN 1479-6708 R&D Projects: GA ČR(CZ) GAP304/11/0184; GA ČR GA309/09/1696 Institutional support: RVO:68378041 Keywords : amyotrophic lateral sclerosis * Alzheimer's disease * Alexander disease Subject RIV: FH - Neurology

  15. Spina bifida and other neural tube defects.

    Science.gov (United States)

    Northrup, H; Volcik, K A

    2000-01-01

    NTDs, resulting from failure of the neural tube to close during the fourth week of embryogenesis, are the most common severely disabling birth defects in the United States, with a frequency of approximately 1 of every 2000 births. Neural tube malformations involving the spinal cord and vertebral arches are referred to as spina bifida, with severe types of spina bifida involving protrusion of the spinal cord and/or meninges through a defect in the vertebral arch. Depending on the level of the lesion, interruption of the spinal cord at the site of the spina bifida defect causes paralysis of the legs, incontinence of urine and feces, anesthesia of the skin, and abnormalities of the hips, knees, and feet. Two additional abnormalities often seen in children with spina bifida include hydrocephalus and the Arnold-Chiari type II malformation. Despite the physical and particular learning disabilities children with spina bifida must cope with, participation in individualized educational programs can allow these children to develop skills necessary for autonomy in adulthood. Advances in research to uncover the molecular basis of NTDs is enhanced by knowledge of the link between both the environmental and genetic factors involved in the etiology of NTDs. The most recent development in NTD research for disease-causing genes is the discovery of a genetic link to the most well-known environmental cause of neural tube malformation, folate deficiency in pregnant women. Nearly a decade ago, periconceptional folic acid supplementation was proven to decrease both the recurrence and occurrence of NTDs. The study of folate and its association with NTDs is an ongoing endeavor that has led to numerous studies of different genes involved in the folate metabolism pathway, including the most commonly studied thermolabile mutation (C677T) in the MTHFR gene. An additional focus for NTD research involves mouse models that exhibit both naturally occurring NTDs, as well as those created by

  16. Two year neurological outcomes of very low birth weight infants ...

    African Journals Online (AJOL)

    Results: Of the 120 infants evaluated, 14 (11.7%; 95% Cl 6.2-17.1) had cerebral palsy, 11 (9.2%; 95% Cl 4.8-16.9) were delayed on cognitive assessment while 32 (26.7%; 95% Cl 9.3-38.1) were found to have functional disabilities. The factors associated with functional disability in the cohort included; neonatal illness (P ...

  17. Relationships between neurological findings and classroom behavior.

    Science.gov (United States)

    Stine, O C; Saratsiotis, J B; Mosser, R S

    1975-09-01

    Five hundred seventy-five children from low-income urban neighborhoods who were between 10 and 12 years of age were examined by pediatricians for certain neurological signs. Classroom teachers ranked each child according to types of behavior. Data on neurological signs found in more than 15 children and on types of classroom behavior clinically expected to be related to central nervous system defects were studied statistically. Significant positive associations were found between nystagmus and hyperactivity, mixed dominance and hyperactivity, and mixed dominance and variable day-to-day performance. Errors in moving parts of the body on verbal command were associated with distractibility and underachievement. Head circumference greater than the 90th percentile for age was associated with unvarying behavior and clumsiness; tactile agnosia with unvarying behavior; asymmetry of the eyes with hyperactivity; and asymmetrical position of the child's head with underachievement. A negative association was found between nystagmus and musical ability.

  18. The Brazilian Neurology centenary (1912-2012 and the common origin of the fields of Neurology and Psychiatry

    Directory of Open Access Journals (Sweden)

    Marleide da Mota Gomes

    2013-01-01

    Full Text Available It is reported the Brazilian Neurology birth (1912, that has as the hallmark its first Neurology Cathedra of Rio de Janeiro, and the links between Neurology and Psychiatry, besides the main medical protagonists at that time in Rio de Janeiro: João Carlos Teixeira Brandão (1854-1921, first professor of the cathedra of Clinical Psychiatry and Nervous Diseases (1883-1921; Juliano Moreira (1873-1933, the founder of the Brazilian scientific Psychiatry and director of the Hospício Nacional de Alienados (National Hospice for the Insane (1903-1930; Antônio Austregésilo Rodrigues de Lima (1876-1960, first professor of the cathedra of Neurology, considered the father of the Brazilian Neurology. Aloysio de Castro (1881-1959 was a great Brazilian neurosemiologist at that time. Austregésilo practiced both disciplines, Neurology and Psychiatry, and like Jean-Martin-Charcot, he was very interested in a typically psychiatric disorder, the hysteria. It is also considered in this paper the first Brazilian authors of Neurology and/or Psychiatric texts and the places where Neurology was initially developed by the main founders: Hospício Nacional de Alienados, Santa Casa de Misericórdia do Rio de Janeiro and Policlínica Geral do Rio de Janeiro.

  19. The neurology of proverbs.

    Science.gov (United States)

    Van Lancker, D

    1990-01-01

    Although proverb tests are commonly used in the mental status examination surprisingly little is known about either normal comprehension or the interpretation of proverbial expressions. Current proverbs tests have conceptual and linguistic shortcomings, and few studies have been done to investigate the specific effects of neurological and psychiatric disorders on the interpretation of proverbs. Although frontal lobes have traditionally been impugned in patients who are "concrete", recent studies targeting deficient comprehension of non literal language (e.g. proverbs, idioms, speech formulas, and indirect requests) point to an important role of the right hemisphere (RH). Research describing responses of psychiatrically and neurologically classified groups to tests of proverb and idiom usage is needed to clarify details of aberrant processing of nonliteral meanings. Meanwhile, the proverb test, drawing on diverse cognitive skills, is a nonspecific but sensitive probe of mental status.

  20. The Neurology of Proverbs

    Directory of Open Access Journals (Sweden)

    Diana Van Lancker

    1990-01-01

    Full Text Available Although proverb tests are commonly used in the mental status examination surprisingly little is known about either normal comprehension or the interpretation of proverbial expressions. Current proverbs tests have conceptual and linguistic shortcomings, and few studies have been done to investigate the specific effects of neurological and psychiatric disorders on the interpretation of proverbs. Although frontal lobes have traditionally been impugned in patients who are “concrete”, recent studies targeting deficient comprehension of non literal language (e.g. proverbs, idioms, speech formulas, and indirect requests point to an important role of the right hemisphere (RH. Research describing responses of psychiatrically and neurologically classified groups to tests of proverb and idiom usage is needed to clarify details of aberrant processing of nonliteral meanings. Meanwhile, the proverb test, drawing on diverse cognitive skills, is a nonspecific but sensitive probe of mental status.

  1. Vaccination and neurological disorders

    Directory of Open Access Journals (Sweden)

    Anastasia Gkampeta

    2015-12-01

    Full Text Available Active immunization of children has been proven very effective in elimination of life threatening complications of many infectious diseases in developed countries. However, as vaccination-preventable infectious diseases and their complications have become rare, the interest focuses on immunization-related adverse reactions. Unfortunately, fear of vaccination-related adverse effects can led to decreased vaccination coverage and subsequent epidemics of infectious diseases. This review includes reports about possible side effects following vaccinations in children with neurological disorders and also published recommendations about vaccinating children with neurological disorders. From all international published data anyone can conclude that vaccines are safer than ever before, but the challenge remains to convey this message to society.

  2. [Vitamin D and neurology].

    Science.gov (United States)

    Thouvenot, Éric; Camu, William

    2013-10-01

    Vitamin D deficiency is associated with a higher risk of multiple sclerosis and also with a higher relapse rate as well as a higher number of MRI lesions. Elders with vitamin D deficiency have worse cognitive performance. Vitamin D deficiency is a risk factor for developing Alzheimer's disease. Ischemic stroke are more frequent and more severe in patients with low vitamin D levels. Carotid atherosclerosis is more frequent and more severe in patients with vitamin D deficiency. Vitamin D deficiency is associated with a higher risk and worse prognosis of Parkinson's disease. In the different neurological disorders discussed herein, gene polymorphisms that could alter vitamin D metabolism are also associated with a higher incidence or a worse disease prognosis. Despite the links between vitamin D deficiency and the risks of developing neurological disorders, there is, to date, no proof that supplementation could alter the course of these diseases. Copyright © 2013. Published by Elsevier Masson SAS.

  3. Neurological legal disability

    Directory of Open Access Journals (Sweden)

    Radhakrishna H

    2006-01-01

    Full Text Available Neurological disorders with a prolonged course, either remediable or otherwise are being seen increasingly in clinical practice and many such patients are young and are part of some organization or other wherein their services are needed if they were healthy and fit. The neurologists who are on the panel of these organizations are asked to certify whether these subjects are fit to work or how long they should be given leave. These certificates may be produced in the court of law and may be subjected to verification by another neurologist or a medical board. At present there are no standard guidelines in our country to effect such certification unlike in orthopedic specialty or in ophthalmology. The following is a beginning, based on which the neurologist can certify the neurological disability of such subjects and convey the same meaning to all neurologists across the country.

  4. Clara's birth.

    Science.gov (United States)

    Thorens, S; Richer, D; Bel, A; Bel, B

    1999-01-01

    Advocacy for homebirth is based on the strong assumption that birthing is a physiological process and does not require medical interventions unless things turn "wrong." Let us assume that something might always go wrong, for instance during Clara's birth when the placenta was still retained after three hours. What needs to be done? The moment the midwife entered the house she was endowed with a responsibility for any problem caused by her failure to give proper guidance. With this weight on her shoulder, and according to her training and experience, there was no other way for her than to suggest an intervention regarding the placenta. The two midwives, B, and C., might not agree on risk estimations, the nature of the intervention, whether it should be performed at home or in a hospital. The estimation of abnormalities, evaluation of risks and the procedures with which to handle them are the main practical difference between classic obstetrics and non-interventionist midwifery--by analogy, between allopathy and naturopathy. The rest (positive thinking) is basically literature. A delivery will not remain normal just because we decide it "must" be physiological. Dr. Barua, a professor of obstetrics in Pondicherry, pointed out that normal deliveries are rare--fewer than 10 percent in South India. What we have instead is either pathological or "natural" deliveries in which regenerative processes take care of abnormal situations. Unless she has developed sensitive hands, a birth assistant or midwife must rely on monitoring procedures to evaluate deviations from the normal process. Even with the greatest care, these procedures are intrusive in that they disconnect the parturient from her own sensations. While successful unattended homebirth stories emphasise the extraordinary power and sensitivity of a birthing woman, the whole dream seems to collapse in abnormal or pathological cases. It would have collapsed for Sonia as well, had she not discarded negative suggestions

  5. Neurologic complications of alcoholism.

    Science.gov (United States)

    Noble, James M; Weimer, Louis H

    2014-06-01

    This review serves as an overview of neurologic conditions associated with alcohol abuse or withdrawal, including epidemiology, clinical symptoms, diagnostic approach, and treatment. Frequent alcohol abuse and frank alcoholism are very common among adults in the United States. Although rates decline with each decade, as many as 10% of the elderly drink excessively. Given the ubiquitous nature of alcoholism in society, its complications have been clinically recognized for generations, with recent advances focusing on improved understanding of ethanol's biochemical targets and the pathophysiology of its complications. The chronic effects of alcohol abuse are myriad and include neurologic complications through both direct and indirect effects on the central and peripheral nervous systems. These disorders include several encephalopathic states related to alcohol intoxication, withdrawal, and related nutritional deficiencies; acute and chronic toxic and nutritional peripheral neuropathies; and myopathy. Although prevention of alcoholism and its neurologic complications is the optimal strategy, this article reviews the specific treatment algorithms for alcohol withdrawal and its related nutritional deficiency states.

  6. Palliative care and neurology

    Science.gov (United States)

    Boersma, Isabel; Miyasaki, Janis; Kutner, Jean

    2014-01-01

    Palliative care is an approach to the care of patients and families facing progressive and chronic illnesses that focuses on the relief of suffering due to physical symptoms, psychosocial issues, and spiritual distress. As neurologists care for patients with chronic, progressive, life-limiting, and disabling conditions, it is important that they understand and learn to apply the principles of palliative medicine. In this article, we aim to provide a practical starting point in palliative medicine for neurologists by answering the following questions: (1) What is palliative care and what is hospice care? (2) What are the palliative care needs of neurology patients? (3) Do neurology patients have unique palliative care needs? and (4) How can palliative care be integrated into neurology practice? We cover several fundamental palliative care skills relevant to neurologists, including communication of bad news, symptom assessment and management, advance care planning, caregiver assessment, and appropriate referral to hospice and other palliative care services. We conclude by suggesting areas for future educational efforts and research. PMID:24991027

  7. Acute neurological involvement in diarrhea-associated hemolytic uremic syndrome.

    Science.gov (United States)

    Nathanson, Sylvie; Kwon, Thérésa; Elmaleh, Monique; Charbit, Marina; Launay, Emma Allain; Harambat, Jérôme; Brun, Muriel; Ranchin, Bruno; Bandin, Flavio; Cloarec, Sylvie; Bourdat-Michel, Guylhene; Piètrement, Christine; Champion, Gérard; Ulinski, Tim; Deschênes, Georges

    2010-07-01

    Neurologic involvement is the most threatening complication of diarrhea-associated hemolytic uremic syndrome (D+HUS). We report a retrospective multicenter series of 52 patients with severe initial neurologic involvement that occurred in the course of D+HUS. Verotoxigenic Escherichia coli infection was documented in 24. All except two patients had acute renal failure that required peritoneal dialysis, hemodialysis, or both techniques. A first group of eight patients remained with normal consciousness; five of them had protracted seizures. A second group of 23 patients had stuporous coma; five of these had protracted severe seizures, and 18 had a neurologic defect including pyramidal syndrome, hemiplegia or hemiparesia, and extrapyramidal syndrome. A third group of 21 patients had severe coma. Plasma exchanges were undertaken in 25 patients, 11 of whom were treated within 24 hours after the first neurologic sign; four died, two survived with severe sequelae, and five were alive without neurologic defect. Magnetic resonance imaging (MRI) for 29 patients showed that (1) every structure of the central nervous system was susceptible to involvement; (2) no correlation seemed to exist between special profile of localization on early MRI and the final prognosis; and (3) MRI did not exhibit any focal lesions in three patients. The overall prognosis of the series was marked by the death of nine patients and severe sequelae in 13. Neurologic involvement is associated with a severe renal disease but does not lead systematically to death or severe disability.

  8. Adams-Oliver syndrome, a successful conservative approach for a large scalp defect

    Directory of Open Access Journals (Sweden)

    Vera Baptista

    2015-12-01

    Full Text Available Adams-Oliver syndrome was first described in 1945 as a multiple congenital malformations association including aplasia cutis congenita and terminal transverse limb defects, along with cardiovascular and central nervous system anomalies. We report the case of a boy, prenatally diagnosed with a malformation of feet and right hand. At birth, a malformation of the skull was observed, at midline and right frontal, parietal and occipital region, with meningeal exposition. He presented with abnormal feet and right hand with hypoplastic fingers and also exhibiting cutis marmorata telangiectatica. Cardiac, abdominal and central nervous system malformations were excluded. He started a conservative approach based on daily dressings. The scalp defect closed at 4 months with this management strategy. At this age, a skull defect about 5 cm long was still perceptible by palpation of the area. The boy showed normal growth and neurologic development. No complications were reported. This report reinforces the effectiveness of conservative management strategies for extensive bone and epithelization defects in syndromes of aplasia cutis congenita like Adams-Oliver syndrome.

  9. Neurologic Complications of Celiac Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-06-01

    Full Text Available Patients with celiac disease (CD [n=l 11] and controls (n=211 were questioned regarding neurologic disorders, their charts were reviewed, and they received neurologic evaluations, including brain imaging or EEG if indicated, in a study of neurologic complications of CD at Carmel Medical Center, Technion-Israel Institute of Technology, Haifa, Israel.

  10. African Journal of Neurological Sciences

    African Journals Online (AJOL)

    African Journal of Neurological Sciences (AJNS) is owned and controlled by the Pan African Association of Neurological Sciences (PAANS). The AJNS's aim is to publish scientific papers of any aspects of Neurological Sciences. AJNS is published quarterly. Articles submitted exclusively to the AJNS are accepted if neither ...

  11. Defects and defect processes in nonmetallic solids

    CERN Document Server

    Hayes, W

    2004-01-01

    This extensive survey covers defects in nonmetals, emphasizing point defects and point-defect processes. It encompasses electronic, vibrational, and optical properties of defective solids, plus dislocations and grain boundaries. 1985 edition.

  12. Neurology and literature 2.

    Science.gov (United States)

    Iniesta, I

    2014-05-01

    Good literary fiction has the potential to move us, extend our sense of life, transform our prospective views and help us in the face of adversity. A neurological disorder is likely to be the most challenging experience a human being may have to confront in a lifetime. As such, literary recreations of illnesses have a doubly powerful effect. Study the synergies between neurology and fictional literature with particular reference to narrative based medicine (NBM). Doctors establish boundaries between the normal and the abnormal. Taking a clinical history is an act of interpretation in which the doctor integrates the science of objective signs and measurable quantities with the art of subjective clinical judgment. The more discrepancy there is between the patient's experience with the illness and the doctor's interpretation of that disease, the less likely the doctor-patient interaction is to succeed. NBM contributes to a better discernment of the meanings, thus considering disease as a biographical event rather than just a natural fact. Drawing from their own experience with disease, writers of fiction provide universal insights through their narratives, whilst neuroscientists, like Cajal, have occasionally devoted their scientific knowledge to literary narratives. Furthermore, neurologists from Alzheimer to Oliver Sacks remind us of the essential value of NBM in the clinic. Integrating NBM (the narrative of patients) and the classic holistic approach to patients with our current paradigm of evidence based medicine represents a challenge as relevant to neurologists as keeping up with technological and scientific advances. Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  13. Vital Signs: Update on Zika Virus–Associated Birth Defects and Evaluation of All U.S. Infants with Congenital Zika Virus Exposure — U.S. Zika Pregnancy Registry, 2016

    OpenAIRE

    Reynolds, Megan R.; Jones, Abbey M.; Petersen, Emily E.; Lee, Ellen H.; Rice, Marion E.; Bingham, Andrea; Ellington, Sascha R.; Evert, Nicole; Reagan-Steiner, Sarah; Oduyebo, Titilope; Brown, Catherine M.; Martin, Stacey; Ahmad, Nina; Bhatnagar, Julu; Macdonald, Jennifer

    2017-01-01

    Background In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. Methods This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidenc...

  14. Neurological Respiratory Failure

    Directory of Open Access Journals (Sweden)

    Mohan Rudrappa

    2018-01-01

    Full Text Available West Nile virus infection in humans is mostly asymptomatic. Less than 1% of neuro-invasive cases show a fatality rate of around 10%. Acute flaccid paralysis of respiratory muscles leading to respiratory failure is the most common cause of death. Although the peripheral nervous system can be involved, isolated phrenic nerve palsy leading to respiratory failure is rare and described in only two cases in the English literature. We present another case of neurological respiratory failure due to West Nile virus-induced phrenic nerve palsy. Our case reiterates the rare, but lethal, consequences of West Nile virus infection, and the increase of its awareness among physicians.

  15. Neurological complications of chickenpox

    Directory of Open Access Journals (Sweden)

    Girija A

    2007-01-01

    Full Text Available Aim: To assess the neurological complications of chickenpox with prognosis. Background: The neurological complications occur in 0.03% of persons who get chickenpox. There is no universal vaccination against chicken pox in India. Most patients prefer alternate modalities of treatment. Hence these complications of chickenpox are likely to continue to occur. Study Design: A prospective study was conducted for 2 years (from March 2002 on the admitted cases with neurological complications after chickenpox (with rash or scar. Patients were investigated with CT/MRI, CSF study, EEG and nerve conduction studies and hematological workup. They were followed-up for 1 year and outcome assessed using modified Rankin scale. Results: The latency for the neurological complications was 4-32 days (mean: 16.32 days. There were 18 cases: 10 adults (64% and 8 children (36%. Cerebellar ataxia (normal CT/MRI was observed in 7 cases (32% (mean age: 6.85 years. One patient (6 years had acute right hemiparesis in the fifth week due to left capsular infarct. All these cases spontaneously recovered by 4 weeks. The age range of the adult patients was 13-47 years (mean: 27 years. The manifestations included cerebellar and pyramidal signs (n-4 with features of demyelination in MRI who recovered spontaneously or with methylprednisolone by 8 weeks. Patient with encephalitis recovered in 2 weeks with acyclovir. Guillain Barre syndrome of the demyelinating type (n-2 was treated with Intravenous immunoglobulin (IVIG and they had a slow recovery by a modified Rankin scale (mRs score of 3 and 2 at 6 months and 1 year, respectively. One case died after hemorrhage into the occipital infarct. There were two cases of asymmetrical neuropathy, one each of the seventh cranial and brachial neuritis. Conclusion: Spontaneous recovery occurs in post-chickenpox cerebellar ataxia. Rarely, serious complications can occur in adults. The demyelinating disorders, either of the central or peripheral

  16. Education Research: Neurology resident education

    Science.gov (United States)

    Mayans, David; Schneider, Logan; Adams, Nellie; Khawaja, Ayaz M.; Engstrom, John

    2016-01-01

    Objective: To survey US-trained graduating neurology residents who are American Academy of Neurology members, in an effort to trend perceived quality and completeness of graduate neurology education. Methods: An electronic survey was sent to all American Academy of Neurology members graduating from US neurology residency programs in the Spring of 2014. Results: Of 805 eligible respondents, 24% completed the survey. Ninety-three percent of adult neurology residents and 56% of child neurology residents reported plans to pursue fellowship training after residency. Respondents reported a desire for additional training in neurocritical care, neuro-oncology, neuromuscular diseases, botulinum toxin injection, and nerve blocks. There remains a clear deficit in business training of neurology residents, although there was notable improvement in knowledge of coding and office management compared to previous surveys. Discussion: Although there are still areas of perceived weakness in neurology training, graduating neurology residents feel generally well prepared for their chosen careers. However, most still pursue fellowship training for reasons that are little understood. In addition to certain subspecialties and procedures, practice management remains deficient in neurology training and is a point of future insecurity for most residents. Future curriculum changes should consider resident-reported gaps in knowledge, with careful consideration of improving business training. PMID:26976522

  17. Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways.

    Science.gov (United States)

    Rachidi, Mohammed; Lopes, Carmela

    2008-05-01

    Down syndrome (DS), affecting 1/700 live births, is the major genetic cause of mental retardation (MR), a cognitive disorder with hard impact on public health. DS brain is characterized by a reduced cerebellar volume and number of granular cells, defective cortical lamination and reduced cortical neurons, malformed dendritic trees and spines, and abnormal synapses. These neurological alterations, also found in trisomic mouse models, result from gene-dosage effects of Human Chromosome 21 (HC21) on the expression of critical developmental genes. HC21 sequencing, mouse ortholog gene identification and DS mouse model generation lead to determine HC21 gene functions and the effects of protein-dosage alterations in neurodevelopmental and metabolic pathways in DS individuals. Trisomic brain transcriptome of DS patients and trisomic mouse models identified some molecular changes determined by gene-overdosage and associated dysregulation of some disomic gene expression in DS brains. These transcriptional variations cause developmental alterations in neural patterning and signal transduction pathways that may lead to defective neuronal circuits responsible for the pathogenesis of MR in DS. Recently, the first altered molecular pathway responsible of some DS phenotypes, including neurological and cognitive disorders has been identified. In this pathway, two critical HC21 genes (DYRK1A and DSCR1) act synergistically to control the phosphorylation levels of NFATc and NFATc-regulated gene expression. Interestingly, the NFATc mice show neurological dysfunctions similar to those seen in DS patients and trisomic mouse models. Treatment of DS mouse model Ts65Dn with GABA(A) antagonists allowed post-drug rescue of cognitive defects, indicating a hopeful direction in clinical therapies for MR in children with DS.

  18. Neurological aspects of grief.

    Science.gov (United States)

    Silva, Adriana C; de Oliveira Ribeiro, Natalia P; de Mello Schier, Alexandre R; Arias-Carrión, Oscar; Paes, Flavia; Nardi, Antonio E; Machado, Sergio; Pessoa, Tamires M

    2014-01-01

    Despite grief being a universal experience and the increased scientific attention paid to grief and bereavement in recent years, studies that seek to better understand the role of the neurological aspects of grief are still scarce. We found 5 studies that discussed the relationship between the neurological aspects of grief due to the death of a loved one. All studies showed an activation of common areas, i.e., the anterior cingulate cortex (ACC), posterior cingulate cortex (PCC), prefrontal cortex (PFC), insula and amygdala. These findings could indicate that there is a group of areas working together and responding to generate the symptomatology of grief. Because grief is a universal experience, it is essential that the necessary and effective support can be provided to those who experience the loss of someone considered important in their lives, and this requires understanding grief's manifestation, its differential diagnosis in reference to other clinical conditions, mainly psychiatric ones, and adequate forms of intervention and treatment when necessary. Proper understanding and support can help prevent the emergence of more serious health problems.

  19. Primary care perceptions of neurology and neurology services.

    Science.gov (United States)

    Loftus, Angela M; Wade, Carrie; McCarron, Mark O

    2016-06-01

    Neurophobia (fear of neural sciences) and evaluation of independent sector contracts in neurology have seldom been examined among general practitioners (GPs). A questionnaire determined GPs' perceptions of neurology compared with other medical specialties. GP experiences of neurology services with independent sector companies and the local National Health Service (NHS) were compared. Areas of potential improvement in NHS neurology services were recorded from thematic analyses. Among 76 GPs neurology was perceived to be as interesting as other medical specialties. GPs reported less knowledge, more difficulty and less confidence in neurology compared with other medical specialties. There was a preference for a local NHS neurology service (pneurology services provided better patient satisfaction. GPs prefer local NHS neurology services to independent sector contracts. GPs' evaluations should inform commissioning of neurology services. Combating neurophobia should be an integral part of responsive commissioning. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  20. Birthing Healthy Babies (A Cup of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    2018-01-11

    Every four and a half minutes a baby is born with a birth defect in the United States. That means nearly 120,000 babies, or about three percent of all babies born each year. In this podcast, Dr. Suzanne Gilboa discusses ways to prevent birth defects.  Created: 1/11/2018 by MMWR.   Date Released: 1/11/2018.

  1. Congenital Defects.

    Science.gov (United States)

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  2. Deja vu in neurology.

    Science.gov (United States)

    Wild, Edward

    2005-01-01

    The significance of deja vu is widely recognised in the context of temporal lobe epilepsy, and enquiry about deja vu is frequently made in the clinical assessment of patients with possible epilepsy. Deja vu has also been associated with several psychiatric disorders. The historical context of current understanding of deja vu is discussed. The literature reveals deja vu to be a common phenomenon consistent with normality. Several authors have suggested the existence of a "pathological" form of deja vu that differs, qualitatively or quantitatively, from "non-pathological" deja vu. The features of deja vu suggesting neurological or psychiatric pathology are discussed. Several neuroanatomical and psychological models of the deja vu experience are highlighted, implicating the perceptual, mnemonic and affective regions of the lateral temporal cortex, hippocampus and amygdala in the genesis of deja vu. A possible genetic basis for a neurochemical model of deja vu is discussed. Clinical approaches to the patient presenting with possible deja vu are proposed.

  3. Consciousness: A Neurological Perspective

    Directory of Open Access Journals (Sweden)

    Andrea E. Cavanna

    2011-01-01

    Full Text Available Consciousness is a state so essentially entwined with human experience, yet so difficult to conceptually define and measure. In this article, we explore how a bidimensional model of consciousness involving both level of arousal and subjective awareness of the contents of consciousness can be used to differentiate a range of healthy and altered conscious states. These include the different sleep stages of healthy individuals and the altered states of consciousness associated with neurological conditions such as epilepsy, vegetative state and coma. In particular, we discuss how arousal and awareness are positively correlated in normal physiological states with the exception of REM sleep, while a disturbance in this relationship is characteristic of vegetative state, minimally conscious state, complex partial seizures and sleepwalking.

  4. Neurology and diving.

    Science.gov (United States)

    Massey, E Wayne; Moon, Richard E

    2014-01-01

    Diving exposes a person to the combined effects of increased ambient pressure and immersion. The reduction in pressure when surfacing can precipitate decompression sickness (DCS), caused by bubble formation within tissues due to inert gas supersaturation. Arterial gas embolism (AGE) can also occur due to pulmonary barotrauma as a result of breath holding during ascent or gas trapping due to disease, causing lung hyperexpansion, rupture and direct entry of alveolar gas into the blood. Bubble disease due to either DCS or AGE is collectively known as decompression illness. Tissue and intravascular bubbles can induce a cascade of events resulting in CNS injury. Manifestations of decompression illness can vary in severity, from mild (paresthesias, joint pains, fatigue) to severe (vertigo, hearing loss, paraplegia, quadriplegia). Particularly as these conditions are uncommon, early recognition is essential to provide appropriate management, consisting of first aid oxygen, targeted fluid resuscitation and hyperbaric oxygen, which is the definitive treatment. Less common neurologic conditions that do not require hyperbaric oxygen include rupture of a labyrinthine window due to inadequate equalization of middle ear pressure during descent, which can precipitate vertigo and hearing loss. Sinus and middle ear overpressurization during ascent can compress the trigeminal and facial nerves respectively, causing temporary facial hypesthesia and lower motor neuron facial weakness. Some conditions preclude safe diving, such as seizure disorders, since a convulsion underwater is likely to be fatal. Preventive measures to reduce neurologic complications of diving include exclusion of individuals with specific medical conditions and safe diving procedures, particularly related to descent and ascent. © 2014 Elsevier B.V. All rights reserved.

  5. History of neurologic examination books.

    Science.gov (United States)

    Boes, Christopher J

    2015-04-01

    The objective of this study was to create an annotated list of textbooks dedicated to teaching the neurologic examination. Monographs focused primarily on the complete neurologic examination published prior to 1960 were reviewed. This analysis was limited to books with the word "examination" in the title, with exceptions for the texts of Robert Wartenberg and Gordon Holmes. Ten manuals met the criteria. Works dedicated primarily to the neurologic examination without a major emphasis on disease description or treatment first appeared in the early 1900s. Georg Monrad-Krohn's "Blue Book of Neurology" ("Blue Bible") was the earliest success. These treatises served the important purpose of educating trainees on proper neurologic examination technique. They could make a reputation and be profitable for the author (Monrad-Krohn), highlight how neurology was practiced at individual institutions (McKendree, Denny-Brown, Holmes, DeJong, Mayo Clinic authors), and honor retiring mentors (Mayo Clinic authors).

  6. Neurological sequelae of bacterial meningitis.

    Science.gov (United States)

    Lucas, Marjolein J; Brouwer, Matthijs C; van de Beek, Diederik

    2016-07-01

    We reported on occurrence and impact of neurological sequelae after bacterial meningitis. We reviewed occurrence of neurological sequelae in children and adults after pneumococcal and meningococcal meningitis. Most frequently reported sequelae are focal neurological deficits, hearing loss, cognitive impairment and epilepsy. Adults with pneumococcal meningitis have the highest risk of developing focal neurological deficits, which are most commonly caused by cerebral infarction, but can also be due to cerebritis, subdural empyema, cerebral abscess or intracerebral bleeding. Focal deficits may improve during clinical course and even after discharge, but a proportion of patients will have persisting focal neurological deficits that often interfere in patient's daily life. Hearing loss occurs in a high proportion of patients with pneumococcal meningitis and has been associated with co-existing otitis. Children and adults recovering from bacterial meningitis without apparent neurological deficits are at risk for long-term cognitive deficits. Early identification of neurological sequelae is important for children to prevent additional developmental delay, and for adults to achieve successful return in society after the disease. Neurological sequelae occur in a substantial amount of patients following bacterial meningitis. Most frequently reported sequelae are focal neurological deficits, hearing loss, cognitive impairment and epilepsy. Copyright © 2016 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  7. Perioperative Management of Neurological Conditions

    Directory of Open Access Journals (Sweden)

    Manjeet Singh Dhallu

    2017-06-01

    Full Text Available Perioperative care of the patients with neurological diseases can be challenging. Most important consideration is the management and understanding of pathophysiology of these disorders and evaluation of new neurological changes that occur perioperatively. Perioperative generally refers to 3 phases of surgery: preoperative, intraoperative, and postoperative. We have tried to address few commonly encountered neurological conditions in clinical practice, such as delirium, stroke, epilepsy, myasthenia gravis, and Parkinson disease. In this article, we emphasize on early diagnosis and management strategies of neurological disorders in the perioperative period to minimize morbidity and mortality of patients.

  8. Splicing Regulation in Neurologic Disease

    National Research Council Canada - National Science Library

    Licatalosi, Donny D; Darnell, Robert B

    2006-01-01

    .... It is becoming evident that alternative splicing plays a particularly important role in neurologic disease, which is perhaps not surprising given the important role splicing plays in generating...

  9. Preterm Labor and Birth

    Science.gov (United States)

    ... and Birth Share Facebook Twitter Pinterest Email Print Preterm Labor and Birth In general, a normal human ... Labor that begins before 37 weeks is called preterm labor (or premature labor). A birth that occurs ...

  10. CDC WONDER: Births

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Births (Natality) online databases in CDC WONDER report birth rates, fertility rates and counts of live births occurring within the United States to U.S....

  11. Essure Permanent Birth Control

    Science.gov (United States)

    ... Prosthetics Essure Permanent Birth Control Essure Permanent Birth Control Share Tweet Linkedin Pin it More sharing options ... Print Essure is a a permanently implanted birth control device for women (female sterilization). Implantation of Essure ...

  12. Birth control pills - combination

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000655.htm Birth control pills - combination To use the sharing features on ... both progestin and estrogen. What Are Combination Birth Control Pills? Birth control pills help keep you from ...

  13. Birth Control Explorer

    Science.gov (United States)

    ... STIs Media Facebook Twitter Tumblr Shares · 579 Birth Control Explorer Sort by all methods most effective methods ... You are here Home » Birth Control Explorer Birth Control Explorer If you’re having sex —or if ...

  14. Cannabinoids in neurology – Brazilian Academy of Neurology

    Directory of Open Access Journals (Sweden)

    Sonia M. D. Brucki

    2015-04-01

    Full Text Available The use of cannabidiol in some neurological conditions was allowed by Conselho Regional de Medicina de São Paulo and by Agência Nacional de Vigilância Sanitária (ANVISA. Specialists on behalf of Academia Brasileira de Neurologia prepared a critical statement about use of cannabidiol and other cannabis derivatives in neurological diseases.

  15. Single Ventricle Defects

    Science.gov (United States)

    ... of this information Congenital Heart Defects • Home • About Congenital Heart Defects Introduction Healthy Heart Function Common Types of Heart Defects - Aortic Valve Stenosis (AVS) - Atrial ...

  16. [Neurological interpretation of dreams] .

    Science.gov (United States)

    Pareja, J A; Gil-Nagel, A

    2000-10-01

    Cerebral cortical activity is constant throughout the entire human life, but substantially changes during the different phases of the sleep-wake cycle (wakefulness, non-REM sleep and REM sleep), as well as in relation to available information. In particular, perception of the environment is closely linked to the wake-state, while during sleep perception turns to the internal domain or endogenous cerebral activity. External and internal information are mutually exclusive. During wakefulness a neuronal mechanism allows attention to focus on the environment whereas endogenous cortical activity is ignored. The opposite process is provided during sleep. The function external attention-internal attention is coupled with the two modes of brain function during wakefulness and during sleep, providing two possible cortical status: thinking and dreaming. Several neurological processes may influence the declaration of the three states of being or may modify their orderly oscillation through the sleep-wake cycle. In addition, endogenous information and its perception (dreams) may be modified. Disturbances of dreaming may configurate in different general clinical scenarios: lack of dreaming, excess of dreaming (epic dreaming), paroxysmal dreaming (epileptic), nightmares, violent dreaming, daytime-dreaming (hallucinations), and lucid dreaming. Sensorial deprivation, as well as the emergence of internal perception may be the underlying mechanism of hallucinations. The probable isomorphism between hallucinations and dreaming is postulated, analyzed and discussed.

  17. Interventional neurology: a reborn subspecialty.

    Science.gov (United States)

    Edgell, Randall C; Alshekhlee, Amer; Yavagal, Dileep R; Vora, Nirav; Cruz-Flores, Salvador

    2012-10-01

    Neurologists have a long history of involvement in cerebral angiography; however, the roots of neurologist involvement in therapeutic endovascular procedures have not been previously documented. As outlined in this article, it has taken the efforts of several early pioneers to lay the ground work for interventional neurology, a specialty that has become one of the fastest growing neurological subspecialties. The ground work, along with a great clinical need, has allowed the modern interventional neurologist to tackle some of the most intractable diseases, especially those affecting the cerebral vasculature. The institutionalization of interventional neurology as a subspecialty was first advocated in 1995 in an article entitled, "Interventional Neurology, a subspecialty whose time has come." The institutions created in the wake of this article have provided the framework that has allowed interventional neurology to transition from "a subspecialty whose time has come" to a subspecialty that is here to stay and thrive. Copyright © 2010 by the American Society of Neuroimaging.

  18. Reports of cases of renal tubular acidosis with neurologic symptomes

    Directory of Open Access Journals (Sweden)

    Ghafarpour M

    1996-07-01

    Full Text Available Proximal weakness specially in extremitas is a common neurologic symptom of patients, for which the physician should consider toxic, metabolic, infectious and paraneoblastic diseases affecting muscular system as well as primary myopathies. Osteomalacia is one of the most common considerations which is treatable but disabling as its natural course. Osteomalacia is the most often due to VITD or calcium deficiency but work up is necessary to find other primary defects that cause this disease. Renal tubular acidosis is one of these primary defects and osteomalacia secondary to it dose not respond to classic treatment of osteomalacia, so specific management is necessary. In this article we report six patients who have been referred to the clinic of neurology of Imam Khomeini Hospital since 1370 to 1374 with proximal weakness for whom RTA has been diagnosed

  19. The impact of the Wenchuan earthquake on birth outcomes.

    Directory of Open Access Journals (Sweden)

    Cong E Tan

    Full Text Available BACKGROUND: Earthquakes and other catastrophic events frequently occurring worldwide can be considered as outliers and cause a growing and urgent need to improve our understanding of the negative effects imposed by such disasters. Earthquakes can intensively impact the birth outcomes upon psychological and morphological development of the unborn children, albeit detailed characteristics remain obscure. METHODS AND FINDINGS: We utilized the birth records at Du Jiang Yan and Peng Zhou counties to investigate the birth outcomes as a consequence of a major earthquake occurred in Wenchuan, China on May 12, 2008. Totally 13,003 of neonates were recorded, with 6638 and 6365 for pre- and post- earthquake, respectively. Significant low birthweight, high ratio of low birthweight, and low Apgar scores of post-earthquake group were observed. In contrast, the sex ratio at birth, birth length and length of gestation did not show statistical differences. The overall ratio of birth-defect in the post-earthquake (1.18% is statistically high than that of pre-earthquake (0.99%, especially for those in the first trimester on earthquake day (1.47%. The birth-defect spectrum was dramatically altered after earthquake, with the markedly increased occurrences of ear malformations. The ratio of preterm birth post-earthquake (7.41% is significant increased than that of pre-earthquake (5.63%. For the birth outcomes of twins, significant differences of the ratio of twins, birth weight, ratio of low birthweight and birth-defect rate were observed after earthquake. CONCLUSION: A hospital-based study of birth outcomes impacted by the Wenchuan earthquake shows that the earthquake was associated with significant effects on birth outcomes, indicating it is a major monitor for long-term pregnant outcomes.

  20. A Pleasing Birth

    NARCIS (Netherlands)

    Vries, De Raymond

    2005-01-01

    Women have long searched for a pleasing birth-a birth with a minimum of fear and pain, in the company of supportive family, friends, and caregivers, a birth that ends with a healthy mother and baby gazing into each other's eyes. For women in the Netherlands, such a birth is defined as one at home

  1. Neurological examination in small animals

    Directory of Open Access Journals (Sweden)

    Viktor Paluš

    2014-03-01

    Full Text Available This clinical review about the neurological examination in small animals describes the basics about the first steps of investigation when dealing with neurological patients. The knowledge of how to perform the neurological examination is important however more important is how to correctly interpret these performed tests. A step-by-step approach is mandatory and examiners should master the order and the style of performing these tests. Neurological conditions can be sometimes very distressing for owners and for pets that might not be the most cooperating. The role of a veterinary surgeon, as a professional, is therefore to collect the most relevant history, to examine a patient in a professional manner and to give to owners an educated opinion about the further treatment and prognosis. However neurological examinations might look challenging for many. But it is only the clinical application of neuroanatomy and neurophysiology to an every-day situation for practicing veterinarians and it does not require any specific in-to-depth knowledge. This clinical review is aimed not only to provide the information on how to perform the neurological examination but it is also aimed to appeal on veterinarians to challenge their daily routine and to start practicing on neurologically normal patients. This is the best and only way to differentiate between the normal and abnormal in a real situation.

  2. Glyphosate, pathways to modern diseases III: Manganese, neurological diseases, and associated pathologies.

    Science.gov (United States)

    Samsel, Anthony; Seneff, Stephanie

    2015-01-01

    Manganese (Mn) is an often overlooked but important nutrient, required in small amounts for multiple essential functions in the body. A recent study on cows fed genetically modified Roundup(®)-Ready feed revealed a severe depletion of serum Mn. Glyphosate, the active ingredient in Roundup(®), has also been shown to severely deplete Mn levels in plants. Here, we investigate the impact of Mn on physiology, and its association with gut dysbiosis as well as neuropathologies such as autism, Alzheimer's disease (AD), depression, anxiety syndrome, Parkinson's disease (PD), and prion diseases. Glutamate overexpression in the brain in association with autism, AD, and other neurological diseases can be explained by Mn deficiency. Mn superoxide dismutase protects mitochondria from oxidative damage, and mitochondrial dysfunction is a key feature of autism and Alzheimer's. Chondroitin sulfate synthesis depends on Mn, and its deficiency leads to osteoporosis and osteomalacia. Lactobacillus, depleted in autism, depend critically on Mn for antioxidant protection. Lactobacillus probiotics can treat anxiety, which is a comorbidity of autism and chronic fatigue syndrome. Reduced gut Lactobacillus leads to overgrowth of the pathogen, Salmonella, which is resistant to glyphosate toxicity, and Mn plays a role here as well. Sperm motility depends on Mn, and this may partially explain increased rates of infertility and birth defects. We further reason that, under conditions of adequate Mn in the diet, glyphosate, through its disruption of bile acid homeostasis, ironically promotes toxic accumulation of Mn in the brainstem, leading to conditions such as PD and prion diseases.

  3. Outline of metabolic diseases in adult neurology.

    Science.gov (United States)

    Mochel, F

    2015-01-01

    Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. Historically discovered and characterized in children, a growing number of IEM are described in adults, and especially in the field of neurology. In daily practice, it is important to recognize emergency situations as well as neurodegenerative diseases for which a metabolic disease is likely, especially when therapeutic interventions are available. Here, the goal is to provide simple clinical, imaging and biochemical tools that can first orientate towards and then confirm the diagnosis of IEM. General guidelines are presented to treat the most common IEM during metabolic crises - acute encephalopathies with increased plasma ammonia, lactate or homocystein, as well as rhabdomyolysis. Examples of therapeutic strategies currently applied to chronic neurometabolic diseases are also provided - GLUT1 deficiency, adrenoleukodystrophy, cerebrotendinous xanthomatosis, Niemann-Pick type C and Wilson disease. Genetic counseling is mandatory in some X-linked diseases - ornithine transcarbamylase deficiency and adrenoleukodystrophy - and recommended in maternally inherited mitochondrial diseases - mutations of mitochondrial DNA. Besides these practical considerations, the contribution of metabolism to the field of adult neurology and neurosciences is much greater: first, with the identification of blood biomarkers that are progressively changing our diagnostic strategies thanks to lipidomic approaches, as illustrated in the field of spastic paraplegia and atypical psychiatric presentations; and second, through the understanding of pathophysiological mechanisms involved in common neurological diseases thanks to the study of these rare diseases. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  4. Neurological Manifestations of Dengue Infection

    Directory of Open Access Journals (Sweden)

    Guo-Hong Li

    2017-10-01

    Full Text Available Dengue counts among the most commonly encountered arboviral diseases, representing the fastest spreading tropical illness in the world. It is prevalent in 128 countries, and each year >2.5 billion people are at risk of dengue virus infection worldwide. Neurological signs of dengue infection are increasingly reported. In this review, the main neurological complications of dengue virus infection, such as central nervous system (CNS, peripheral nervous system, and ophthalmic complications were discussed according to clinical features, treatment and possible pathogenesis. In addition, neurological complications in children were assessed due to their atypical clinical features. Finally, dengue infection and Japanese encephalitis were compared for pathogenesis and main clinical manifestations.

  5. Why neurology? Factors which influence career choice in neurology.

    Science.gov (United States)

    Albert, Dara V; Hoyle, Chad; Yin, Han; McCoyd, Matthew; Lukas, Rimas V

    2016-01-01

    To evaluate the factors which influence the decision to pursue a career in neurology. An anonymous survey was developed using a Likert scale to rate responses. The survey was sent to adult and child neurology faculty, residents and fellows, as well as medical students applying for neurology. Descriptive statistics were used to analyse the factors of influence. Respondents were subsequently categorized into pre-neurology trainees, neurology trainees, child neurologists and adult neurologists, and differences between the groups were analysed using Pearson's chi-square test. One hundred and thirty-three anonymous responses were received. The respondents were neurologists across all levels of training and practice. Across all respondents, the most common factor of high importance was intellectual content of specialty, challenging diagnostic problems, type of patient encountered and interest in helping people. Responses were similar across the groups; however, the earliest trainees cited interest in helping people as most important, while those in neurology training and beyond cite intellectual content of the specialty as most important. As trainees transition from their earliest levels of clinical experience into working as residents and faculty, there is a shift in the cited important factors. Lifestyle and financial factors seem to be the least motivating across all groups. Encouragement from peers, mentors, faculty and practicing physicians is considered high influences in a smaller number of neurologists. This may present an opportunity for practicing neurologists to make connections with medical students early in their education in an effort to encourage and mentor candidates.

  6. Chapter 20: neurological illustration from photography to cinematography.

    Science.gov (United States)

    Aubert, Geneviève

    2010-01-01

    This chapter explores iconography in neurology from the birth of photography up to the early medical applications of cinematography before 1914. The important visual part of neurological diagnosis explains why these techniques were adopted very early by neurologists. Duchenne published the first medical book illustrated with photographs of patients. The first and most famous photographic laboratory was created in Charcot's department, at the Salpêtrière in Paris, under the direction of Albert Londe. Londe published the first book dedicated to medical photography. The physiologist Marey and the photographer Muybridge, in association with neurologists, played key roles in the development of chronophotography and cinematography. Germany was the first country to welcome cinematography in a neurology department. Independently, neurologists began to film patients in other countries in Europe and in America. In 1905, Arthur Van Gehuchten (1861-1914), Belgian anatomist and neurologist, began systematically to film neurologic patients, with the intention of building up a complete neurological iconographic collection. This collection has survived and has been restored in the laboratory of the Royal Belgian Film Archive where the films are now safely stored in their vaults.

  7. The pioneers of clinical neurology in South America.

    Science.gov (United States)

    Allegri, Ricardo Francisco

    2008-08-15

    The field of neurology in South America (SA) began to emerge towards the end of the nineteenth century, following the origin of the specialty in Europe. There was a consistent and long-standing admiration for European training, which led to the birth of the discipline in South America. The first steps took place almost simultaneously with European countries in Argentina, Brazil, Uruguay, Chile and Peru. This paper will unearth information on the pioneers of clinical neurology in SA. Taken together, these sources reveal several important milestones in the long history of the field. The department of Neurology at the Hospital San Roque de Buenos Aires was created in 1885 and headed by José María Ramos Mejía, who then took over as Professor of Neurology at the University of Buenos Aires School of Medicine in 1887. The first institute of neurology in Latin America, the Instituto Neurológico de Montevideo, was founded in 1926 under Américo Ricaldoni's direction. Seventeen years later, the Arquivos de Neuropsiquiatria from San Pablo was created, and is still in existence. Up until the present, South America has made dozens of important research contributions, the most important in the diagnosis and treatment of regional endemic diseases.

  8. Congenital Heart Defects and Receipt of Special Education Services.

    Science.gov (United States)

    Riehle-Colarusso, Tiffany; Autry, Andrew; Razzaghi, Hilda; Boyle, Coleen A; Mahle, William T; Van Naarden Braun, Kim; Correa, Adolfo

    2015-09-01

    We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects. Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992-2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference. Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4-1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8-5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8-5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2-3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3-2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1-1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs. Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. Copyright © 2015 by the American Academy of Pediatrics.

  9. Neurological Diagnostic Tests and Procedures

    Science.gov (United States)

    ... of diagnostic imaging techniques and chemical and metabolic analyses to detect, manage, and treat neurological disease. Some ... performed in a doctor’s office or at a clinic. Fluoroscopy is a type of x-ray that ...

  10. Neurological complications of underwater diving.

    Science.gov (United States)

    Rosińska, Justyna; Łukasik, Maria; Kozubski, Wojciech

    2015-01-01

    The diver's nervous system is extremely sensitive to high ambient pressure, which is the sum of atmospheric and hydrostatic pressure. Neurological complications associated with diving are a difficult diagnostic and therapeutic challenge. They occur in both commercial and recreational diving and are connected with increasing interest in the sport of diving. Hence it is very important to know the possible complications associated with this kind of sport. Complications of the nervous system may result from decompression sickness, pulmonary barotrauma associated with cerebral arterial air embolism (AGE), otic and sinus barotrauma, high pressure neurological syndrome (HPNS) and undesirable effect of gases used for breathing. The purpose of this review is to discuss the range of neurological symptoms that can occur during diving accidents and also the role of patent foramen ovale (PFO) and internal carotid artery (ICA) dissection in pathogenesis of stroke in divers. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  11. Neurologic Complications of Smallpox Vaccination

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-06-01

    Full Text Available Smallpox and smallpox vaccination is reviewed from the Departments of Neurology, Yale University School of Medicine, New Haven, CT, and University of New Mexico School of Medicine, Albuquerque.

  12. Neurological Complications of Bariatric Surgery.

    Science.gov (United States)

    Goodman, Jerry Clay

    2015-12-01

    Obesity has attained pandemic proportions, and bariatric surgery is increasingly being employed resulting in turn to more neurological complications which must be recognized and managed. Neurological complications may result from mechanical or inflammatory mechanisms but primarily result from micro-nutritional deficiencies. Vitamin B12, thiamine, and copper constitute the most frequent deficiencies. Neurological complications may occur at reasonably predictable times after bariatric surgery and are associated with the type of surgery used. During the early post-operative period, compressive or stretch peripheral nerve injury, rhabdomyolysis, Wernicke's encephalopathy, and inflammatory polyradiculoneuropathy may occur. Late complications ensue after months to years and include combined system degeneration (vitamin B12 deficiency) and hypocupric myelopathy. Bariatric surgery patients require careful nutritional follow-up with routine monitoring of micronutrients at 6 weeks and 3, 6, and 12 months post-operatively and then annually after surgery and multivitamin supplementation for life. Sustained vigilance for common and rare neurological complications is essential.

  13. Neurologic disorder and criminal responsibility.

    Science.gov (United States)

    Yaffe, Gideon

    2013-01-01

    Sufferers from neurologic and psychiatric disorders are not uncommonly defendants in criminal trials. This chapter surveys a variety of different ways in which neurologic disorder bears on criminal responsibility. It discusses the way in which a neurologic disorder might bear on the questions of whether or not the defendant acted voluntarily; whether or not he or she was in the mental state that is required for guilt for the crime; and whether or not he or she is deserving of an insanity defense. The discussion demonstrates that a just determination of whether a sufferer from a neurologic disorder is diminished in his or her criminal responsibility for harmful conduct requires equal appreciation of the nature of the relevant disorder and its impact on behavior, on the one hand, and of the legal import of facts about the psychologic mechanisms through which behavior is generated, on the other. © 2013 Elsevier B.V. All rights reserved.

  14. Relationship of birth weight with congenital cardiovascular malformations in a population-based study.

    Science.gov (United States)

    Petrossian, Robert A; Kuehl, Karen S; Loffredo, Christopher A

    2015-08-01

    A known comorbidity of congenital cardiovascular malformations is low birth weight, but the reasons for this association remain obscure. This retrospective study examines the relationship between congenital cardiovascular malformations and the birth weight of singletons, taking into account differences in gestational age and other factors. Using data from the retrospective, population-based Baltimore-Washington Infant Study, six types of congenital cardiovascular malformations were investigated in comparison with controls (n=3519) through linear regression: d-transposition of the great arteries (n=187), other conotruncal heart defects (n=361), endocardial cushion defects (n=281), left heart obstructive lesions (n=507), atrial septal defects (n=281), and membranous ventricular septal defects (n=622). Infants with conotruncal heart defects (-218 g), endocardial cushion defects with Down syndrome (-265 g), endocardial cushion defects without Down syndrome (-194 g), left heart obstructive lesions (-143 g), atrial septal defects (-150 g), and membranous ventricular septal defects (-127 g) showed significant birth weight deficits, adjusting for gestational age, and other covariates. Infants with d-transposition of the great arteries (-67 g) did not show significant birth weight deficits compared with the control group. The degree of birth weight decrement appears to be highly related to the specific type of congenital cardiovascular malformation. As a whole, these infants do not exhibit low birth weights solely because of being premature, and thus other mechanisms must underlie these associations.

  15. Planned hospital birth versus planned home birth

    DEFF Research Database (Denmark)

    Olsen, O.; Clausen, J.A.

    2012-01-01

    Observational studies of increasingly better quality and in different settings suggest that planned home birth in many places can be as safe as planned hospital birth and with less intervention and fewer complications. This is an update of a Cochrane review first published in 1998....

  16. Global Burden of Neural Tube Defects, Risk Factors, and Prevention

    Directory of Open Access Journals (Sweden)

    Joseph E

    2014-11-01

    Full Text Available Neural tube defects (NTDs, serious birth defects of the brain and spine usually resulting in death or paralysis, affect an estimated 300,000 births each year worldwide. Although the majority of NTDs are preventable with adequate folic acid consumption during the preconception period and throughout the first few weeks of gestation, many populations, in particular those in low and middle resource settings, do not have access to fortified foods or vitamin supplements containing folic acid. Further, accurate birth defects surveillance data, which could help inform mandatory fortification and other NTD prevention initiatives, are lacking in many of these settings. The burden of birth defects in South East Asia is among the highest in the world. Expanding global neural tube defects prevention initiatives can support the achievement of the United Nations Millennium Development Goal 4 to reduce child mortality, a goal which many countries in South East Asia are currently not poised to reach, and the 63rd World Health Assembly Resolution on birth defects. More work is needed to develop and implement mandatory folic acid fortification policies, as well as supplementation programs in countries where the reach of fortification is limited.

  17. Extremely Preterm Birth

    Science.gov (United States)

    ... Education & Events Advocacy For Patients About ACOG Extremely Preterm Birth Home For Patients Search FAQs Extremely Preterm ... Pamphlets - Spanish FAQ173, June 2016 PDF Format Extremely Preterm Birth Pregnancy When is a baby considered “preterm” ...

  18. Warning Signs After Birth

    Science.gov (United States)

    ... Pregnancy > Postpartum care > Warning signs after birth Warning signs after birth E-mail to a friend Please ... infection Postpartum bleeding Postpartum depression (PPD) What warning signs should you look for? Call your provider if ...

  19. Birth control pill - slideshow

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/presentations/100108.htm Birth control pill - series—Normal female anatomy To use the ... produce a successful pregnancy. To prevent pregnancy, birth control pills affect how these organs normally function. Review ...

  20. Neurologic presentation of celiac disease.

    Science.gov (United States)

    Bushara, Khalafalla O

    2005-04-01

    Celiac disease (CD) long has been associated with neurologic and psychiatric disorders including cerebellar ataxia, peripheral neuropathy, epilepsy, dementia, and depression. Earlier reports mainly have documented the involvement of the nervous system as a complication of prediagnosed CD. However, more recent studies have emphasized that a wider spectrum of neurologic syndromes may be the presenting extraintestinal manifestation of gluten sensitivity with or without intestinal pathology. These include migraine, encephalopathy, chorea, brain stem dysfunction, myelopathy, mononeuritis multiplex, Guillain-Barre-like syndrome, and neuropathy with positive antiganglioside antibodies. The association between most neurologic syndromes described and gluten sensitivity remains to be confirmed by larger epidemiologic studies. It further has been suggested that gluten sensitivity (as evidenced by high antigliadin antibodies) is a common cause of neurologic syndromes (notably cerebellar ataxia) of otherwise unknown cause. Additional studies showed high prevalence of gluten sensitivity in genetic neurodegenerative disorders such as hereditary spinocerebellar ataxia and Huntington's disease. It remains unclear whether gluten sensitivity contributes to the pathogenesis of these disorders or whether it represents an epiphenomenon. Studies of gluten-free diet in patients with gluten sensitivity and neurologic syndromes have shown variable results. Diet trials also have been inconclusive in autism and schizophrenia, 2 diseases in which sensitivity to dietary gluten has been implicated. Further studies clearly are needed to assess the efficacy of gluten-free diet and to address the underlying mechanisms of nervous system pathology in gluten sensitivity.

  1. Neurological aspects of vibroacoustic disease.

    Science.gov (United States)

    Martinho Pimenta, A J; Castelo Branco, N A

    1999-03-01

    Mood and behavioral abnormalities are the most common early findings related to vibroacoustic disease (VAD). Other signs and symptoms have been observed in VAD patients. Brain MRI discloses small multifocal lesions in about 50% of subjects with more than 10 yr of occupational exposure to large pressure amplitude (> or = 90 dB SPL) and low frequency (< or = 500 Hz) (LPALF) noise. However, to date, there have been no studies globally integrating all the neurological, imaging and neurophysiological data of VAD patients. This is the main goal of this study. The 60 male Caucasians diagnosed with VAD were neurologically evaluated in extreme detail in order to systematically identify the most common and significant neurological disturbances in VAD. This population demonstrates cognitive changes (identified through psychological and neurophysiological studies (ERP P300)), vertigo and auditory changes, visual impairment, epilepsy, and cerebrovascular diseases. Neurological examination reveals pathological signs and reflexes, most commonly the palmo-mental reflex. A vascular pattern underlying the multifocal hyperintensities in T2 MR imaging, with predominant involvement of the small arteries of the white matter, is probably the visible organic substratum of the neurological picture. However, other pathophyisological mechanisms are involved in epileptic symptomatology.

  2. Birth Control Patch

    Science.gov (United States)

    ... that use hormones, such as the birth control pill or birth control ring , a girl uses the birth control patch based on her monthly menstrual cycle. She puts on the patch on the first day of her menstrual cycle or the first Sunday after her menstrual cycle begins. She will change the ...

  3. Encyclopedia of Birth Control.

    Science.gov (United States)

    Rengel, Marian

    This encyclopedia brings together in more than 200 entries, arranged in A-to-Z format, a portrait of the complex modern issue that birth control has become with advances in medicine and biochemistry during the 20th century. It is aimed at both the student and the consumer of birth control. Entries cover the following topics: birth control…

  4. Birth and Emergency Planning

    African Journals Online (AJOL)

    AJRH Managing Editor

    Overall, 62% had a birth plan, 74% had adequate knowledge of danger signs, while 64% and 37% reported maternal and newborn complications ... Knowledge of danger signs was associated with birth and emergency planning, and birth and emergency planning was associated with .... Materials and Methods. Study site.

  5. Saving lives at birth

    DEFF Research Database (Denmark)

    Daysal, N. Meltem; Trandafir, Mircea; van Ewijk, Reyn

    2015-01-01

    Many developed countries have recently experienced sharp increases in home birth rates. This paper investigates the impact of home births on the health of low-risk newborns using data from the Netherlands, the only developed country where home births are widespread. To account for endogeneity in ...

  6. Birth Control Pill

    Science.gov (United States)

    ... Counselors Kidney Stones Brain and Nervous System Birth Control Pill KidsHealth > For Teens > Birth Control Pill Print A A A What's in this ... La píldora anticonceptiva What Is It? The birth control pill (also called "the Pill") is a daily ...

  7. Birth Control Shot

    Science.gov (United States)

    ... Counselors Kidney Stones Brain and Nervous System Birth Control Shot KidsHealth > For Teens > Birth Control Shot Print A A A What's in this ... La inyección anticonceptiva What Is It? The birth control shot is a long-acting form of progesterone, ...

  8. Neural Tube Defects

    Science.gov (United States)

    ... vitamin, before and during pregnancy prevents most neural tube defects. Neural tube defects are usually diagnosed before the infant is ... or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function ...

  9. Extended defects in Germanium

    CERN Document Server

    Osgood, R M

    2008-01-01

    Intends to provide a fundamental understanding of the extended-defect formation during Ge materials and device processing, providing ways to distinguish harmful from less detrimental defects and should point out ways for defect engineering and control.

  10. Neurologic considerations in propionic acidemia.

    Science.gov (United States)

    Schreiber, John; Chapman, Kimberly A; Summar, Marshall L; Ah Mew, Nicholas; Sutton, V Reid; MacLeod, Erin; Stagni, Kathy; Ueda, Keiko; Franks, Jill; Island, Eddie; Matern, Dietrich; Peña, Loren; Smith, Brittany; Urv, Tiina; Venditti, Charles; Chakarapani, Anupam; Gropman, Andrea L

    2012-01-01

    Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and cranial nerve abnormalities. As the PA consensus conference hosted by Children's National Medical Center progressed from January 28 to 30, 2011, it became evident that neurological complications were common and a major component of morbidity, but the role of imaging and the basis for brain pathophysiology were unclear. This paper reviews the hypothesized pathophysiology, presentation and uses the best available evidence to suggest programs for treatment, imaging, and monitoring the neurological complications of PA. Copyright © 2011. Published by Elsevier Inc. All rights reserved.

  11. Acupuncture application for neurological disorders.

    Science.gov (United States)

    Lee, Hyangsook; Park, Hi-Joon; Park, Jongbae; Kim, Mi-Ja; Hong, Meesuk; Yang, Jongsoo; Choi, Sunmi; Lee, Hyejung

    2007-01-01

    Acupuncture has been widely used for a range of neurological disorders. Despite its popularity, the evidence to support the use of acupuncture is contradictory. This review was designed to summarize and to evaluate the available evidence of acupuncture for neurological disorders. Most of the reviewed studies suffer from lack of methodological rigor. Owing to paucity and poor quality of the primary studies, no firm conclusion could be drawn on the use of acupuncture for epilepsy, Alzheimer's disease, Parkinson's disease, ataxic disorders, multiple sclerosis, amyotrophic lateral sclerosis and spinal cord injury. For stroke rehabilitation, the evidence from recent high-quality trials and previous systematic reviews is not convincing. More rigorous trials are warranted to establish acupuncture's role in neurological disorders.

  12. Quality Metrics in Inpatient Neurology.

    Science.gov (United States)

    Dhand, Amar

    2015-12-01

    Quality of care in the context of inpatient neurology is the standard of performance by neurologists and the hospital system as measured against ideal models of care. There are growing regulatory pressures to define health care value through concrete quantifiable metrics linked to reimbursement. Theoretical models of quality acknowledge its multimodal character with quantitative and qualitative dimensions. For example, the Donabedian model distils quality as a phenomenon of three interconnected domains, structure-process-outcome, with each domain mutually influential. The actual measurement of quality may be implicit, as in peer review in morbidity and mortality rounds, or explicit, in which criteria are prespecified and systemized before assessment. As a practical contribution, in this article a set of candidate quality indicators for inpatient neurology based on an updated review of treatment guidelines is proposed. These quality indicators may serve as an initial blueprint for explicit quality metrics long overdue for inpatient neurology. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  13. Rare variants in NR2F2 cause congenital heart defects in humans

    NARCIS (Netherlands)

    Al Turki, Saeed; Manickaraj, Ashok K.; Mercer, Catherine L.; Gerety, Sebastian S.; Hitz, Marc-Phillip; Lindsay, Sarah; D'Alessandro, Lisa C. A.; Swaminathan, G. Jawahar; Bentham, Jamie; Arndt, Anne-Karin; Low, Jacoba; Breckpot, Jeroen; Gewillig, Marc; Thienpont, Bernard; Abdul-Khaliq, Hashim; Harnack, Christine; Hoff, Kirstin; Kramer, Hans-Heiner; Schubert, Stephan; Siebert, Reiner; Toka, Okan; Cosgrove, Catherine; Watkins, Hugh; Lucassen, Anneke M.; O'Kelly, Ita M.; Salmon, Anthony P.; Bu'lock, Frances A.; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Brook, J. David; Mulder, Barbara; Klaassen, Sabine; Bhattacharya, Shoumo; Devriendt, Koen; Fitzpatrick, David F.; Wilson, David I.; Mital, Seema; Hurles, Matthew E.

    2014-01-01

    Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13

  14. Neurological manifestation of colonic adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Uzair Chaudhary

    2012-04-01

    Full Text Available Paraneoplastic neurologic disorders are extremely rare in cancer patients and are most commonly associated with certain tumors, such as ovarian cancer, small cell lung cancer, and breast cancer. We report here a paraneoplastic neurological syndrome in a 53-year-old man with colonic adenocarcinoma with a solitary liver metastasis. His paraneoplastic syndrome was successfully treated by methylprednisolone and primary oncologic therapies including neoadjuvant chemotherapy and definitive surgery. This is also the first documented case of simultaneous manifestation of a sensory neuropathy and limbic encephalitis with colon cancer.

  15. Neurological manifestations in Fabry's disease

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Jensen, Troels Staehelin

    2007-01-01

    . Neurological symptoms, such as burning sensations (occasionally accompanied by acroparesthesia) and stroke, are among the first to appear, and occur in both male and female patients. A delay in establishing the diagnosis of Fabry's disease can cause unnecessary problems, especially now that enzyme replacement...... treatment is available to prevent irreversible organ damage. Females with Fabry's disease who present with pain have often been ignored and misdiagnosed because of the disorder's X-linked inheritance. This Review will stress the importance of recognizing neurological symptoms for the diagnosis of Fabry...

  16. Sleep disorders in neurological practice

    Directory of Open Access Journals (Sweden)

    Mikhail Guryevich Poluektov

    2012-01-01

    Full Text Available Sleep disorders are closely associated with both nervous system diseases and mental disorders; however, such patients prefer to seek just neurological advice. Insomnia is the most common complaint in routine clinical practice. It is characterized by different impairments in sleep and daytime awakening. Obstructive sleep apnea syndrome is less common, but more clinically important because of its negative impact on the cardiovascular and nervous systems. The common neurological disorders are restless legs syndrome and REM sleep behavior disorder, as well as narcolepsy, the major manifestations of which are impaired nocturnal sleep and daytime awakening.

  17. Saving lives at birth

    DEFF Research Database (Denmark)

    Daysal, N. Meltem; Trandafir, Mircea; van Ewijk, Reyn

    2015-01-01

    Many developed countries have recently experienced sharp increases in home birth rates. This paper investigates the impact of home births on the health of low-risk newborns using data from the Netherlands, the only developed country where home births are widespread. To account for endogeneity...... in location of birth, we exploit the exogenous variation in distance from a mother’s residence to the closest hospital. We find that giving birth in a hospital leads to substantial reductions in newborn mortality. We provide suggestive evidence that proximity to medical technologies may be an important...

  18. Dysfunctional HCN ion channels in neurological diseases

    Directory of Open Access Journals (Sweden)

    Jacopo C. DiFrancesco

    2015-03-01

    Full Text Available Hyperpolarization-activated cyclic nucleotide-gated (HCN channels are expressed as four different isoforms (HCN1-4 in the heart and in the central and peripheral nervous systems. HCN channels are activated by membrane hyperpolarization at voltages close to resting membrane potentials and carry the hyperpolarization-activated current, dubbed If (funny current in heart and Ih in neurons. HCN channels contribute in several ways to neuronal activity and are responsible for many important cellular functions, including cellular excitability, generation and modulation of rhythmic activity, dendritic integration, transmission of synaptic potentials and plasticity phenomena. Because of their role, defective HCN channels are natural candidates in the search for potential causes of neurological disorders in humans. Several data, including growing evidence that some forms of epilepsy are associated with HCN mutations, support the notion of an involvement of dysfunctional HCN channels in different experimental models of the disease. Additionally, some anti-epileptic drugs are known to modify the activity of the Ih current. HCN channels are widely expressed in the peripheral nervous system and recent evidence has highlighted the importance of the HCN2 isoform in the transmission of pain. HCN channels are also present in the midbrain system, where they finely regulate the activity of dopaminergic neurons, and a potential role of these channels in the pathogenesis of Parkinson’s disease has recently emerged. The function of HCN channels is regulated by specific accessory proteins, which control the correct expression and modulation of the neuronal Ih current. Alteration of these proteins can severely interfere with the physiological channel function, potentially predisposing to pathological conditions. In this review we address the present knowledge of the association between HCN dysfunctions and neurological diseases, including clinical, genetic and

  19. Neurological recovery in obstetric brachial plexus injuries: an historical cohort study

    NARCIS (Netherlands)

    Hoeksma, Agnes F.; ter Steeg, Anne Marie; Nelissen, Rob G. H. H.; van Ouwerkerk, Willem J. R.; Lankhorst, Gustaaf J.; de Jong, Bareld A.

    2004-01-01

    An historical cohort study was conducted to investigate the rate and extent of neurological recovery in obstetric brachial plexus injury (OBPI) and to identify possible prognostic factors in a cohort of children with OBPI from birth to 7 years. All children (n=56; 31 females, 25 males) with OBPI

  20. Expanding the neurological examination using functional neurologic assessment: part II neurologic basis of applied kinesiology.

    Science.gov (United States)

    Schmitt, W H; Yanuck, S F

    1999-03-01

    Functional Neurologic Assessment and treatment methods common to the practice of applied kinesiology are presented. These methods are proposed to enhance neurological examination and treatment procedures toward more effective assessment and care of functional impairment. A neurologic model for these procedures is proposed. Manual assessment of muscular function is used to identify changes associated with facilitation and inhibition, in response to the introduction of sensory receptor-based stimuli. Muscle testing responses to sensory stimulation of known value are compared with usually predictable patterns based on known neuroanatomy and neurophysiology, guiding the clinician to an understanding of the functional status of the patient's nervous system. These assessment procedures are used in addition to other standard diagnostic measures to augment rather than replace the existing diagnostic armamentarium. The proper understanding of the neurophysiologic basis of muscle testing procedures will assist in the design of further investigations into applied kinesiology. Accordingly, the neurophysiologic basis and proposed mechanisms of these methods are reviewed.

  1. The Spanish Society of Neurology's official clinical practice guidelines for epilepsy. Special considerations in epilepsy: comorbidities, women of childbearing age, and elderly patients.

    Science.gov (United States)

    Mauri Llerda, J A; Suller Marti, A; de la Peña Mayor, P; Martínez Ferri, M; Poza Aldea, J J; Gomez Alonso, J; Mercadé Cerdá, J M

    2015-10-01

    The characteristics of some population groups (patients with comorbidities, women of childbearing age, the elderly) may limit epilepsy management. Antiepileptic treatment in these patients may require adjustments. We searched articles in Pubmed, clinical practice guidelines for epilepsy, and recommendations by the most relevant medical societies regarding epilepsy in special situations (patients with comorbidities, women of childbearing age, the elderly). Evidence and recommendations are classified according to the prognostic criteria of Oxford Centre of Evidence-Based Medicine (2001) and the European Federation of Neurological Societies (2004) for therapeutic interventions. Epilepsy treatment in special cases of comorbidities must be selected properly to improve efficacy with the fewest side effects. Adjusting antiepileptic medication and/or hormone therapy is necessary for proper seizure management in catamenial epilepsy. Exposure to antiepileptic drugs (AED) during pregnancy increases the risk of birth defects and may affect fetal growth and/or cognitive development. Postpartum breastfeeding is recommended, with monitoring for adverse effects if sedative AEDs are used. Finally, the elderly are prone to epilepsy, and diagnostic and treatment characteristics in this group differ from those of other age groups. Although therapeutic limitations may be more frequent in older patients due to comorbidities, they usually respond better to lower doses of AEDs than do other age groups. Copyright © 2014 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  2. Edgar Allan Poe and neurology

    Directory of Open Access Journals (Sweden)

    Hélio Afonso Ghizoni Teive

    2014-06-01

    Full Text Available Edgar Allan Poe was one of the most celebrated writers of all time. He published several masterpieces, some of which include references to neurological diseases. Poe suffered from recurrent depression, suggesting a bipolar disorder, as well as alcohol and drug abuse, which in fact led to his death from complications related to alcoholism. Various hypotheses were put forward, including Wernicke's encephalopathy.

  3. Edgar Allan Poe and neurology.

    Science.gov (United States)

    Teive, Hélio Afonso Ghizoni; Paola, Luciano de; Munhoz, Renato Puppi

    2014-06-01

    Edgar Allan Poe was one of the most celebrated writers of all time. He published several masterpieces, some of which include references to neurological diseases. Poe suffered from recurrent depression, suggesting a bipolar disorder, as well as alcohol and drug abuse, which in fact led to his death from complications related to alcoholism. Various hypotheses were put forward, including Wernicke's encephalopathy.

  4. Proprioceptive reflexes and neurological disorders

    NARCIS (Netherlands)

    Schouten, A.C.

    2004-01-01

    Proprioceptive reflexes play an important role during the control of movement and posture. Disturbed modulation of proprioceptive reflexes is often suggested as the cause for the motoric features present in neurological disorders. In this thesis methods are developed and evaluated to quantify

  5. [Neurology in medieval regimina sanitatis].

    Science.gov (United States)

    de Frutos González, V; Guerrero Peral, A L

    2011-09-01

    In medical medieval literature some works about dietetics stand out. Dietetics, as a separate branch of medicine, includes not only food or drinks, but other environmental factors influencing on health. They are known as regimina sanitatis or salutis, and specially developed in the Christian west. They generally consisted of a balance between the Galenic "six non-natural things"; factors regulating health and its protection: environment, exercise, food, sleep, bowel movements and emotions. After reviewing the sources and defining the different stages of this genre, we have considered three of the most out-standing medieval regimina, the anonymous Regimen sanitatis salernitanum, Arnaldo de Vilanova's Regimen sanitatis ad regem aragonum and Bernardo de Gordon's Tractatus of conservatione vite humane. In them we review references to neurological disease. Though not independently considered, there is a significant presence of neurological diseases in the regimina. Dietetics measures are proposed to preserve memory, nerves, or hearing, as well as for the treatment of migraine, epilepsy, stroke or dizziness. Regimina are quiet representative among medical medieval literature, and they show medieval physicians vision of neurological diseases. Dietetics was considered useful to preserve health, and therapeutics was based on natural remedies. 2010 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  6. Education Research: Neurology training reassessed

    Science.gov (United States)

    Maas, Matthew B.; Coleman, Mary; Jozefowicz, Ralph; Engstrom, John

    2012-01-01

    Objective: To assess the strengths and weaknesses of neurology resident education using survey methodology. Methods: A 27-question survey was sent to all neurology residents completing residency training in the United States in 2011. Results: Of eligible respondents, 49.8% of residents returned the survey. Most residents believed previously instituted duty hour restrictions had a positive impact on resident quality of life without impacting patient care. Most residents rated their faculty and clinical didactics favorably. However, many residents reported suboptimal preparation in basic neuroscience and practice management issues. Most residents (71%) noted that the Residency In-service Training Examination (RITE) assisted in self-study. A minority of residents (14%) reported that the RITE scores were used for reasons other than self-study. The vast majority (86%) of residents will enter fellowship training following residency and were satisfied with the fellowship offers they received. Conclusions: Graduating residents had largely favorable neurology training experiences. Several common deficiencies include education in basic neuroscience and clinical practice management. Importantly, prior changes to duty hours did not negatively affect the resident perception of neurology residency training. PMID:23091077

  7. Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate.

    Science.gov (United States)

    Abid, Dorra; Elloumi, Anis; Abid, Leila; Mallek, Souad; Aloulou, Hajer; Chabchoub, Imen; Bouraoui, Amira; Thabet, Afef; Gargouri, Lamia; Zribi, Malek; Yaich, Sourour; Hachicha, Mongia; Gargouri, Abdellatif; Mahfoudh, Abdelmajid; Maatoug, Samir; Dammak, Jamel; Kammoun, Samir

    2014-10-01

    To investigate the previously unknown birth incidence, treatment, and mortality of children with congenital heart disease in Tunisia. We undertook a retrospective review of medical records of all patients who were born in 2010 and 2011, and were diagnosed in Sfax (Tunisia) with congenital heart defect. Among 37,294 births, 255 children were detected to have congenital heart disease, yielding a birth incidence of 6.8 per 1000. The most frequently occurring conditions were ventricular septal defects (31%), ostium secundum atrial septal defects (12.9%), and pulmonary valve abnormalities (12%). Coarctation of the aorta, tetralogy of Fallot, univentricular physiology, pulmonary atresia with ventricular septal defect, and transposition of the great arteries were found in 4.3%, 6.2%, 3.4%, 2.7%, and 2.7%, respectively. During the follow-up of 1 year, 23% of the children died. About three-quarters of those deaths happened before surgery. The present study is in line with the general estimates in the world. It has revealed a high case of mortality among the patients awaiting corrective surgery. These children need more facilities.

  8. International electives in neurology training

    Science.gov (United States)

    Lyons, Jennifer L.; Coleman, Mary E.; Engstrom, John W.

    2014-01-01

    Objective: To ascertain the current status of global health training and humanitarian relief opportunities in US and Canadian postgraduate neurology programs. Background: There is a growing interest among North American trainees to pursue medical electives in low- and middle-income countries. Such training opportunities provide many educational and humanitarian benefits but also pose several challenges related to organization, human resources, funding, and trainee and patient safety. The current support and engagement of neurology postgraduate training programs for trainees to pursue international rotations is unknown. Methods: A survey was distributed to all program directors in the United States and Canada (December 2012–February 2013) through the American Academy of Neurology to assess the training opportunities, institutional partnerships, and support available for international neurology electives. Results: Approximately half of responding programs (53%) allow residents to pursue global health–related electives, and 11% reported that at least 1 trainee participated in humanitarian relief during training (survey response rate 61%, 143/234 program directors). Canadian programs were more likely to allow residents to pursue international electives than US programs (10/11, 91% vs 65/129, 50%, p = 0.023). The number of trainees participating in international electives was low: 0%–9% of residents (55% of programs) and 10%–19% of residents (21% of programs). Lack of funding was the most commonly cited reason for residents not participating in global health electives. If funding was available, 93% of program directors stated there would be time for residents to participate. Most program directors (75%) were interested in further information on global health electives. Conclusions: In spite of high perceived interest, only half of US neurology training programs include international electives, mostly due to a reported lack of funding. By contrast, the majority

  9. TREATMENT OF NEUROLOGICAL CONGENITAL HIP LUXATION

    Directory of Open Access Journals (Sweden)

    Iulian ICLEANU

    2015-11-01

    Full Text Available Congenital hip luxation is a disorder which evolves in time. Teratological hip dislocation is a distinct form of hip luxation, which usually appears with other disorders. These hips are dislocated before birth. In this thesis we will try to elaborate a recovery program, through physical exercises, which will help us realize our treatment objectives: diminishing articular stiffness, increasing articular mobility, increasing muscle strength, recalibration of agonist and antagonist balances and reeducating gait. The specific objectives of the study consist of the particularization of the recovery programs based on age, illness stage (dysplasia or luxation and either surgical or non-surgical intervention. To show the importance of physiotherapy in gait rehabilitation of a child with hip dislocation we started from the hypothesis: using an adequate rehabilitation program after an individualized methodology, optimizes the functional recovery and ensures the gains of hip stability and the formation of an engram of gait as close as it could be to the normal one. We present a case of neurological congenital hip dislocation where the treatment initiated early is showing good results. Results obtained are significantly different and we came to the conclusion that starting an untimely analytical kinetic treatment and globally personalizing it to every patient has better biomechanical results for the hip.

  10. National time trends in congenital heart defects, Denmark, 1977-2005.

    Science.gov (United States)

    Oyen, Nina; Poulsen, Gry; Boyd, Heather A; Wohlfahrt, Jan; Jensen, Peter K A; Melbye, Mads

    2009-03-01

    Time trends in congenital heart defects (CHD) by specific phenotype and with long follow-up time are rarely available for an entire population. We present trends in national CHD prevalences over the past 3 decades. We linked information from the National Patient Register, the Causes of Death Register, and the Danish Cytogenetic Central Register for all persons born in Denmark, 1977 to 2005, and registered in the Civil Registration System, yielding a cohort of 1,763,591 persons-18,207 with CHD. Individuals with CHDs were classified by phenotype (heterotaxia, conotruncal defect, atrioventricular septal defect, anomalous pulmonary venous return, left and right ventricular outflow tract obstructions, septal defects, complex defects, associations, patent ductus arteriosus, unspecified, and other specified) by combining International Classification of Diseases codes using a hierarchical approach. From 1977 to 2005, the overall CHD birth prevalence increased from 73 to 113 per 10,000 live births. Generally, prevalence increased for defects diagnosed in infancy, until 1996-1997, and then stabilized. For each 5-year interval, isolated septal defects and severe defects increased by 22% (95% CI, 20%-25%) and 5% (95% CI, 4%-7%), respectively. Among the severe defects, conotruncal defects and atrioventricular septal defect showed the largest prevalence increases. Women had a lower prevalence of severe defects during the 1980s. The CHD prevalence increase was unchanged when persons with extracardiac defects or chromosomal aberrations were excluded. CHD birth prevalence increased from the beginning of the 1980s but stabilized in the late 1990s.

  11. Male sexual dysfunction and infertility associated with neurological disorders

    DEFF Research Database (Denmark)

    Fode, Mikkel; Krogh-Jespersen, Sheila; Brackett, Nancy L

    2012-01-01

    always require assisted reproductive techniques including intrauterine insemination or in vitro fertilization with or without intracytoplasmic sperm injection. The method of choice depends largely on the number of motile sperm in the ejaculate.Asian Journal of Andrology advance online publication, 5...... is managed by medications to reverse the condition in mild cases and in bladder harvest of semen after ejaculation in more severe cases. Anejaculation might also be managed by medication in mild cases while assisted ejaculatory techniques including penile vibratory stimulation and electroejaculation are used......Normal sexual and reproductive functions depend largely on neurological mechanisms. Neurological defects in men can cause infertility through erectile dysfunction, ejaculatory dysfunction and semen abnormalities. Among the major conditions contributing to these symptoms are pelvic...

  12. Long-term physical and neurologic development in newborn infants with isolated single umbilical artery.

    Science.gov (United States)

    Chetty-John, Shilpa; Zhang, Jun; Chen, Zhen; Albert, Paul; Sun, Liping; Klebanoff, Mark; Grewal, Una

    2010-10-01

    This study compared birth parameters and the longitudinal course in physical and neurologic development between children with 2 and 3 vessel umbilical cords. Our study of the Collaborative Perinatal Project included singletons of at least 24 weeks' gestation with single umbilical artery at birth and no identifiable congenital anomalies. Demographics that were collected included maternal age, race, smoking status, and socioeconomic index. Delivery data included gestational age, birthweight, Apgar scores, placental weight, and umbilical cord insertion and length. Growth and neurodevelopmental parameters were collected at various intervals from birth to 7 years. There were 263 infants with isolated single umbilical artery and 41,415 infants with 3 vessel cords. A random effect model that controlled for potential confounders did not show clinically significant differences in the physical and neurodevelopment measures between these groups. Our study shows no evidence of differential longitudinal physical growth or neurologic outcomes between infants with 2 or 3 vessel cords. Published by Mosby, Inc.

  13. Neurologic manifestations of hypothyroidism in dogs.

    Science.gov (United States)

    Bertalan, Abigail; Kent, Marc; Glass, Eric

    2013-03-01

    Hypothyroidism is a common endocrine disease in dogs. A variety of clinicopathologic abnormalities may be present; however, neurologic deficits are rare. In some instances, neurologic deficits may be the sole manifestation of hypothyroidism. Consequent ly, the diagnosis and management of the neurologic disorders associated with hypothyroidism can be challenging. This article describes several neurologic manifestations of primary hypothyroidism in dogs; discusses the pathophysiology of hypothyroidism-induced neurologic disorders affecting the peripheral and central nervous systems; and reviews the evidence for the neurologic effects of hypothyroidism.

  14. Jonah’s Birth

    OpenAIRE

    Goldstein, Rachel

    2012-01-01

    Rachel Goldstein shares her experience of exploring options related to care provider and place of birth early in her pregnancy. Goldstein and her husband, Marc, after reading and research, chose midwifery care and a home birth. She shares the story of a long labor at home supported by her husband, her doula, and her midwife. Her positive attitude, her ability to use various comfort strategies, and the support she received throughout labor contributed to being able to give birth naturally and ...

  15. Coenzyme Q10 and Neurological Diseases

    Directory of Open Access Journals (Sweden)

    Gabriele Siciliano

    2009-12-01

    Full Text Available Coenzyme Q10 (CoQ10, or ubiquinone is a small electron carrier of the mitochondrial respiratory chain with antioxidant properties. CoQ10 supplementation has been widely used for mitochondrial disorders. The rationale for using CoQ10 is very powerful when this compound is primary decreased because of defective synthesis. Primary CoQ10 deficiency is a treatable condition, so heightened “clinical awareness” about this diagnosis is essential. CoQ10 and its analogue, idebenone, have also been widely used in the treatment of other neurodegenerative disorders. These compounds could potentially play a therapeutic role in Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis, Friedreich’s ataxia, and other conditions which have been linked to mitochondrial dysfunction. This article reviews the physiological roles of CoQ10, as well as the rationale and the role in clinical practice of CoQ10 supplementation in different neurological diseases, from primary CoQ10 deficiency to neurodegenerative disorders.

  16. The impact of thalidomide use in birth defects in Brazil.

    Science.gov (United States)

    Sales Luiz Vianna, Fernanda; Kowalski, Thayne Woycinck; Fraga, Lucas Rosa; Sanseverino, Maria Teresa Vieira; Schuler-Faccini, Lavinia

    2017-01-01

    Although the thalidomide tragedy occurred more than 50 years ago, the medication is still being used worldwide for different reasons, and several aspects regarding its teratogenicity remain unsolved. Despite the strict regulation implemented, new cases of thalidomide embryopathy (TE) are still being registered in Brazil. Furthermore, the molecular processes that lead to malformations when the embryo is exposed to thalidomide have not yet been fully identified. In this article, we perform a critical analysis of thalidomide's history in Brazil, highlighting aspects of the occurrence of TE over the decades. Finally, we present the main perspectives and challenges for ongoing surveillance and prevention of TE in Brazil. The effective control of dispensing thalidomide, especially in areas where leprosy is endemic, is one of the most important and challenging points. Furthermore, the emergence of thalidomide analogues is fast approaching, and their availability would pose additional concerns. The understanding of the molecular mechanisms and targets of thalidomide in both experimental and human models is essential for generating new insights into teratogenic mechanisms, so that safer thalidomide analogues can be developed. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  17. Higher Pregnancy Weight Tied to Raised Odds for Birth Defects

    Science.gov (United States)

    ... of Dimes, and professor of ob/gyn and women's health, Montefiore Medical Center, New York City; June 15, 2017, BMJ , online HealthDay Copyright (c) 2017 HealthDay . All rights reserved. News stories are written and provided by ...

  18. Evaluating alcohol related birth defects in the past

    DEFF Research Database (Denmark)

    Shuler, Kristrina A.; Schroeder, Hannes

    2013-01-01

    not identify ARBD in most individuals, including those with isotopic signatures of Barbadian origin who also showed consistently elevated dental lead levels. We discuss how such patterns may have emerged from timing of exposures and colonial medical practices, but underreporting remains a likely concern...

  19. How Do Health Care Providers Diagnose Birth Defects?

    Science.gov (United States)

    ... NICHD Research Information Find a Study More Information Pharmacology Condition Information NICHD Research Information Find a Study ... National Center for Medical Rehabilitation Research (NCMRR) Center History Funding Opportunity Announcements (FOAs) for NCMRR Partners Training & ...

  20. The relation between antihistamine medication during early pregnancy & birth defects

    National Research Council Canada - National Science Library

    Shawky, Rabah M; Seifeldin, Neveen S

    2015-01-01

    ... women topical medications like emollients should be tried first in the first trimester of pregnancy. Also pregnant women should be advised to consult their health care provider before taking any medication. ^ 2015 Production and hosting by Elsevier B.V. on behalf of Ain Shams University. This is an open access article under the CC BY-NC-N...

  1. How Do Health Care Providers Diagnose Birth Defects?

    Science.gov (United States)

    ... treatment to begin before health problems occur. Prenatal Screening During pregnancy, women have routine tests, such as blood and ... Best, R. G., et al. (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American ...

  2. [Application of psychophysics to neurology].

    Science.gov (United States)

    Koyama, Shinichi

    2008-04-01

    Although psychophysics has already been used in many neurological evaluations including the visual and hearing tests, the use of psychophysics has been limited to the evaluation of sensory disorders. In this review paper, however, the author introduced recent attempts to apply psychophysics to the evaluation of higher cognitive functions such as perception of scenes and facial expressions. Psychophysics was also used to measure visual hypersensitivity in a patient with migraine. The benefits of the use of psychophysics in neurological and neuropsychological settings would be as follows. (1) We can evaluate higher cognitive functions quantitatively. (2) We can measure performance both above and below the normal range by the same method. (3) We can use the same stimulus and task as other research areas such as neuroscience and neuroimaging, and compare results between research areas.

  3. Neurological diseases in famous painters.

    Science.gov (United States)

    Piechowski-Jozwiak, Bartlomiej; Bogousslavsky, Julien

    2013-01-01

    Visual art production involves multiple processes including basic motor skills, such as coordination of movements, visual-spatial processing, emotional output, sociocultural context, and creativity. Thus, the relationship between artistic output and brain diseases is particularly complex, and brain disorders may lead to impairment of artistic production in multiple domains. Neurological conditions may also occasionally modify artistic style and lead to surprisingly innovative features in people with an initial loss of creativity. This chapter focuses on anecdotal reports of various neurological disorders and their potential consequences on works produced by famous or well-established artists, including Carl Frederik Reutersward, Giorgio de Chirico, Krystyna Habura, Leo Schnug, Ignatius Brennan, and many others. © 2013 Elsevier B.V. All rights reserved.

  4. PET and SPECT in neurology

    Energy Technology Data Exchange (ETDEWEB)

    Dierckx, Rudi A.J.O. [Groningen University Medical Center (Netherlands). Dept. of Nuclear Medicine and Molecular Imaging; Ghent Univ. (Belgium). Dept. of Radiology and Nuclear Medicine; Vries, Erik F.J. de; Waarde, Aren van [Groningen University Medical Center (Netherlands). Dept. of Nuclear Medicine and Molecular Imaging; Otte, Andreas (ed.) [Univ. of Applied Sciences Offenburg (Germany). Faculty of Electrical Engineering and Information Technology

    2014-07-01

    PET and SPECT in Neurology highlights the combined expertise of renowned authors whose dedication to the investigation of neurological disorders through nuclear medicine technology has achieved international recognition. Classical neurodegenerative disorders are discussed as well as cerebrovascular disorders, brain tumors, epilepsy, head trauma, coma, sleeping disorders, and inflammatory and infectious diseases of the CNS. The latest results in nuclear brain imaging are detailed. Most chapters are written jointly by a clinical neurologist and a nuclear medicine specialist to ensure a multidisciplinary approach. This state-of-the-art compendium will be valuable to anybody in the field of neuroscience, from the neurologist and the radiologist/nuclear medicine specialist to the interested general practitioner and geriatrician. It is the second volume of a trilogy on PET and SPECT imaging in the neurosciences, the other volumes covering PET and SPECT in psychiatry and in neurobiological systems.

  5. Proust, neurology and Stendhal's syndrome.

    Science.gov (United States)

    Teive, Hélio A G; Munhoz, Renato P; Cardoso, Francisco

    2014-01-01

    Marcel Proust is one of the most important French writers of the 20th century. His relationship with medicine and with neurology is possibly linked to the fact that his asthma was considered to be a psychosomatic disease classified as neurasthenia. Stendhal's syndrome is a rare psychiatric syndrome characterized by anxiety and affective and thought disturbances when a person is exposed to a work of art. Here, the authors describe neurological aspects of Proust's work, particularly the occurrence of Stendhal's syndrome and syncope when he as well as one of the characters of In Search of Lost Time see Vermeer's View of Delft during a visit to a museum. © 2014 S. Karger AG, Basel.

  6. Neurological Findings in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Semra Paydas

    2013-04-01

    Full Text Available Myeloproliferative neoplasms (MPN arise from genetic deficiencies at the level of pluripotent stem cells. Each of these neoplasms is a clonal stem cell disorder with specific phenotypic, genetic and clinical properties. Age is one of the most important factors in the development of symptoms and complications associated with MPNs.High white blood cell counts in chronic myelocytic leukemia also known as leukocytosis may lead to central nervous system findings. Tumors developing outside the bone marrow named as extramedullary myeloid tumors (EMMT could be detected at the initial diagnosis or during the prognosis of the disease, which may cause neurological symptoms due to pressure of leukemic cell mass on various tissues along with spinal cord. Central nervous system involvement and thrombocytopenic hemorrhage may lead to diverse neurological symptoms and findings.Transient ischemic attack and thrombotic stroke are the most common symptoms in polycythemia vera. Besides thrombosis and hemorrage, transformation to acute leukemia can cause neurological symptoms and findings. Transient ischemic attack, thrombotic stroke and specifically hemorrage can give rise to neurological symptoms similar to MPN in essential thrombocytosis.Extramedullary hematopoiesis refers to hematopoietic centers arise in organ/tissues other than bone marrow in myelofibrosis. Extramedullar hematopoietic centers may cause intracranial involvement, spinal cord compression, seizures and hydrocephalia. Though rare, extramedullary hematopoiesis can be detected in cranial/spinal meninges, paraspinal tissue and intracerebral regions. Extramedullary hematopoiesis has been reported in peripheral neurons, choroid plexus, pituitary, orbits, orbital and lacrimal fossa and in sphenoidal sinuses. [Cukurova Med J 2013; 38(2.000: 157-169

  7. [Deficiency, disability, neurology and cinema].

    Science.gov (United States)

    Collado-Vázquez, Susana; Cano de la Cuerda, Roberto; Jiménez-Antona, Carmen

    2010-12-16

    Cinema has been defined in many different ways, but most of them agree that it should be considered both a technique and an art. Although films often depict fantasy stories, in many cases they also reflect day-to-day realities. In its earliest days cinema was already attracted to the world of health and sickness, and frequently addressed topics like medical practice, how patients lived with their illnesses, bioethical issues, the relationship between physician and patient or research. To review the presence of neurological pathologies in the cinema with a view to identifying the main neurological disorders that have been portrayed in films. Likewise it also intends to describe the medical praxis that is employed, the relationship between physician and patient, how the experiences of the patient and the family are represented, the adaptation to social and occupational situations, and the intervention of other health care professionals related with neurological patients. Some of the most significant films that have addressed these topics were reviewed and it was seen that in some of them the illness is dealt with in a very true-to-life manner, whereas others tend to include a greater number of inaccuracies and a larger degree of fiction. Cinema has helped to shape certain ways of thinking about the health care professionals who work with neurological patients, the importance of support from the family and the social role, among other things. This confirms that resorting to cinematographic productions is a fruitful tool for stimulating a critical interest in the past and present of medical practice.

  8. Prospects for neurology and psychiatry.

    Science.gov (United States)

    Cowan, W M; Kandel, E R

    2001-02-07

    Neurological and psychiatric illnesses are among the most common and most serious health problems in developed societies. The most promising advances in neurological and psychiatric diseases will require advances in neuroscience for their elucidation, prevention, and treatment. Technical advances have improved methods for identifying brain regions involved during various types of cognitive activity, for tracing connections between parts of the brain, for visualizing individual neurons in living brain preparations, for recording the activities of neurons, and for studying the activity of single-ion channels and the receptors for various neurotransmitters. The most significant advances in the past 20 years have come from the application to the nervous system of molecular genetics and molecular cell biology. Discovery of the monogenic disorder responsible for Huntington disease and understanding its pathogenesis can serve as a paradigm for unraveling the much more complex, polygenic disorders responsible for such psychiatric diseases as schizophrenia, manic depressive illness, and borderline personality disorder. Thus, a new degree of cooperation between neurology and psychiatry is likely to result, especially for the treatment of patients with illnesses such as autism, mental retardation, cognitive disorders associated with Alzheimer and Parkinson disease that overlap between the 2 disciplines.

  9. Functional Disorders in Neurology : Case Studies

    NARCIS (Netherlands)

    Stone, Jon; Hoeritzauer, Ingrid; Gelauff, Jeannette; Lehn, Alex; Gardiner, Paula; van Gils, Anne; Carson, Alan

    Functional, often called psychogenic, disorders are common in neurological practice. We illustrate clinical issues and highlight some recent research findings using six case studies of functional neurological disorders. We discuss dizziness as a functional disorder, describing the relatively new

  10. Clinical trials in neurology: design, conduct, analysis

    National Research Council Canada - National Science Library

    Ravina, Bernard

    2012-01-01

    .... Clinical Trials in Neurology aims to improve the efficiency of clinical trials and the development of interventions in order to enhance the development of new treatments for neurologic diseases...

  11. Cervical spinal canal narrowing and cervical neurologi-cal injuries

    Directory of Open Access Journals (Sweden)

    ZHANG Ling

    2012-04-01

    Full Text Available 【Abstract】Cervical spinal canal narrowing can lead to injury of the spinal cord and neurological symptoms in-cluding neck pain, headache, weakness and parasthesisas. According to previous and recent clinical researches, we investigated the geometric parameters of normal cervical spinal canal including the sagittal and transverse diameters as well as Torg ratio. The mean sagittal diameter of cervical spinal canal at C 1 to C 7 ranges from 15.33 mm to 20.46 mm, the mean transverse diameter at the same levels ranges from 24.45 mm to 27.00 mm and the mean value of Torg ratio is 0.96. With respect to narrow cervical spinal canal, the following charaterstics are found: firstly, extension of the cervical spine results in statistically significant stenosis as compared with the flexed or neutral positions; secondly, females sustain cervical spinal canal narrowing more easily than males; finally, the consistent narrowest cervical canal level is at C 4 for all ethnicity, but there is a slight variation in the sagittal diameter of cervical spinal stenosis (≤14 mm in Whites, ≤ 12 mm in Japanese, ≤13.7 mm in Chinese. Narrow sagittal cervical canal diameter brings about an increased risk of neurological injuries in traumatic, degenerative and inflam-matory conditions and is related with extension of cervical spine, gender, as well as ethnicity. It is hoped that this re-view will be helpful in diagnosing spinal cord and neuro-logical injuries with the geometric parameters of cervical spine in the future. Key words: Spinal cord injuries; Spinal stenosis; Trauma, nervous system

  12. The birth satisfaction scale.

    Science.gov (United States)

    Martin, Caroline Hollins; Fleming, Valerie

    2011-01-01

    The purpose of this paper is to develop a psychometric scale--the birth satisfaction scale (BSS)--for assessing women's birth perceptions. Literature review and transcribed research-based perceived birth satisfaction and dissatisfaction expression statements were converted into a scored questionnaire. Three overarching themes were identified: service provision (home assessment, birth environment, support, relationships with health care professionals); personal attributes (ability to cope during labour, feeling in control, childbirth preparation, relationship with baby); and stress experienced during labour (distress, obstetric injuries, receiving sufficient medical care, obstetric intervention, pain, long labour and baby's health). Women construct their birth experience differently. Views are directed by personal beliefs, reactions, emotions and reflections, which alter in relation to mood, humour, disposition, frame of mind and company kept. Nevertheless, healthcare professionals can use BSS to assess women's birth satisfaction and dissatisfaction. Scores measure their service quality experiences. Scores provide a global measure of care that women perceived they received during labour. Finding out more about what causes birth satisfaction and dissatisfaction helps maternity care professionals improve intra-natal care standards and allocate resources effectively. An attempt has been made to capture birth satisfaction's generalised meaning and incorporate it into an evidence-based measuring tool.

  13. Birth Control - Multiple Languages

    Science.gov (United States)

    ... PDF Birth Control Methods - myanma bhasa (Burmese) MP3 Family Tree Clinic Teen Wise Minnesota Chinese, Simplified (Mandarin dialect) ( ... Dari) PDF Birth Control Methods - دری (Dari) MP3 Family Tree Clinic Teen Wise Minnesota Farsi (فارسی) Expand Section ...

  14. Birth Month Affects Longevity

    Science.gov (United States)

    Abel, Ernest L.; Kruger, Michael L.

    2010-01-01

    The authors examined the association between birth month and longevity for major league baseball players. Players born in the month of November had the greatest longevities whereas those born in June had the shortest life spans. These differences remained after controlling for covariates such as birth year, career length, age at debut, height, and…

  15. birth-weight infants

    African Journals Online (AJOL)

    hours of life was more strongly associated with death than four traditional risk factors (birth weight, short gestation, male sex and the diagnosis of respiratory distress syndrome). Furthermore, mean pH in the first 12 hours was as strongly associated with death as was birth weight. Previous research in our neonatal population ...

  16. Neurological manifestaions among Sudanese patients with multiple ...

    African Journals Online (AJOL)

    The study demonstrated that the most common non- neurological symptoms was locomotor symptoms (24%) ,while the most common neurological symptoms were backache and neck pain .The most common neurological findings were cord compression (8%) followed by peripheral neuropathy (2%) and CVA (2%). 22% of ...

  17. Prevalence of congenital heart defects associated with Down syndrome in Korea.

    Science.gov (United States)

    Kim, Min-A; Lee, You Sun; Yee, Nan Hee; Choi, Jeong Soo; Choi, Jung Yun; Seo, Kyung

    2014-11-01

    Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea.

  18. Prevalence of Levator Ani Defects in Urogynecological Patients

    OpenAIRE

    Albrich, S.; Rommens, K.; Steetskamp, J.; Weyer, V.; Hoffmann, G.; Skala, C.; Zahn, E.

    2015-01-01

    Introduction: Defects of the levator ani muscle complex could represent a pathophysiological link between vaginal birth trauma and urogynecological symptoms many years later. The aim of our study was to determine the prevalence of levator ani muscle defects using 3D or 4D ultrasound and palpation in urogynecological patients. Material and Methods: Urogynecological patients were retrospectively investigated using 3D or 4D ultrasound. Clinical examination consisted of palpatio...

  19. Accuracy of Birth Certificate Data for Classifying Preterm Birth.

    Science.gov (United States)

    Stout, Molly J; Macones, George A; Tuuli, Methodius G

    2017-05-01

    Classifying preterm birth as spontaneous or indicated is critical both for clinical care and research, yet the accuracy of classification based on different data sources is unclear. We examined the accuracy of preterm birth classification as spontaneous or indicated based on birth certificate data. This is a retrospective cohort study of 123 birth certificates from preterm births in Missouri. Correct classification of spontaneous or indicated preterm birth subtype was based on multi-provider (RN, MFM Fellow, MFM attending) consensus after full medical record review. A categorisation algorithm based on clinical data available in the birth certificate was designed a priori and classification was performed by a single investigator according to the algorithm. Accuracy of birth certificate classification as spontaneous or indicated was compared to the consensus classification. Errors in misclassification were explored. Classification based on birth certificates was correct for 66% of preterm births. Most errors in classification by birth certificate occurred in classifying a birth as spontaneous when it was in fact indicated. The vast majority of errors occurred when preterm rupture of membranes (≥12 h) was checked on the birth certificate causing classification as spontaneous when there was a maternal or fetal indication for delivery. Birth certificate classification overestimated spontaneous preterm birth and underestimated indicated preterm birth compared to classification performed from medical record review. Revisions to birth certificate clinical data would allow more accurate population level surveillance of preterm birth subtypes. © 2017 John Wiley & Sons Ltd.

  20. FastStats: Multiple Births

    Science.gov (United States)

    ... Whooping Cough or Pertussis Family Life Marriage and Divorce Health Care and Insurance Access to Health Care ... and other higher order births: 24 Twin birth rate: 33.5 per 1,000 live births Triplet ...

  1. Birth: Icon Drawings

    Directory of Open Access Journals (Sweden)

    Helen Sargeant

    2012-01-01

    Full Text Available Birth: Icon Drawings (2011 are a series of pencil and ink drawings that unite the public practice of watching YouTube birth videos with the more personal experience of giving birth oneself. Sargeant aims to expose the physical and emotional experience of birth, paying attention to both her own feelings of emotional detachment during the delivery of her sons, and to the idea of traumatic birth more generally. The artist considers the vulnerability of both mother and child, and through the inclusion of adult hands seeks to represent the carers that aid a birthing mother to be (e.g., the woman’s partner, the midwife, the doula, a family member, or a friend. The depiction of the mother's body for Sargeant refers back to earlier sketches made in the series M(other Icons. Here, the mother is depicted as fragmented, ethereal, and empty. Such emptiness, despite the presence of a child, is also hinted at in Birth: Icon Drawings. The simple and anatomical style of drawing that Sargeant adopts makes reference to historical sketches of the body and, in particular, to those housed by the Wellcome Trust. The decorative and abstract detail surrounding the vagina is intended to contrast with the complexity of a disembodied mother subject, and to attract the eye of the viewer into the sketch.

  2. Pulse Oximetry During the First 24 Hours as a Screening Tool For Congenital Heart Defects

    Directory of Open Access Journals (Sweden)

    Patriciu Mihaela

    2017-02-01

    Full Text Available Introduction: Although screening for congenital heart defects (CHD relies mainly on antenatal ultrasonography and clinical examination after birth, life-threatening cardiac malformations are often not diagnosed before the patient is discharged.

  3. Atypical Neurological Manifestations Of Hypokalemia

    Directory of Open Access Journals (Sweden)

    pal P K

    2004-01-01

    Full Text Available A part from the well-established syndrome of motor paralysis, hypokalemia may present with atypical neurological manifestations, which are not well documented in literature. Methods: We treated 30 patients of hypokalemia whose neurological manifestations improved after corrections of hypokalemia. A retrospective chart review of the clinical profile was done with emphasis on the evolution of symptoms and occurrence of unusual manifestations. Results: Twenty-eight patients had subacute quadriparesis with duration of symptoms varying from 10hrs to 7 days and two had slowly progressive quadriparesis. Fifty percent of patients had more than one attack of paralysis. Early asymmetric weakness (11, stiffness and abnormal posture of hands (7, predominant bibrachial weakness (4, distal paresthesias (4, hemiparesthesia (1, hyperreflexia(4, early severe weakness of neck muscles (3, chorea (1, trismus (1,and, retention of urine (1 were the unusual features observed. The means level of serum potassium on admission was 2.1+0.6mEq/L.and the serum creatine kinase was elevated in 14 out of 17 patients. All patients except two had complete recovery.

  4. Neurological complications in hyperemesis gravidarum.

    Science.gov (United States)

    Zara, Gabriella; Codemo, Valentina; Palmieri, Arianna; Schiff, Sami; Cagnin, Annachiara; Citton, Valentina; Manara, Renzo

    2012-02-01

    Hyperemesis gravidarum can impair correct absorption of an adequate amount of thiamine and can cause electrolyte imbalance. This study investigated the neurological complications in a pregnant woman with hyperemesis gravidarum. A 29-year-old pregnant woman was admitted for hyperemesis gravidarum. Besides undernutrition, a neurological examination disclosed weakness with hyporeflexia, ophthalmoparesis, multidirectional nystagmus and optic disks swelling; the patient became rapidly comatose. Brain MRI showed symmetric signal hyperintensity and swelling of periaqueductal area, hypothalamus and mammillary bodies, medial and posterior portions of the thalamus and columns of fornix, consistent with Wernicke encephalopathy (WE). Neurophysiological studies revealed an axonal sensory-motor polyneuropathy, likely due to thiamine deficiency or critical illness polyneuropathy. Sodium and potassium supplementation and parenteral thiamine were administered with improvement of consciousness state in a few days. WE evolved in Korsakoff syndrome. A repeat MRI showed a marked improvement of WE-related alterations and a new hyperintense lesion in the pons, suggestive of central pontine myelinolysis. No sign or symptom due to involvement of the pons was present.

  5. Neurological disorders in hypertensive patients

    Directory of Open Access Journals (Sweden)

    N. V. Vakhnina

    2015-01-01

    Full Text Available Hypertension is one of the most common vascular diseases. The brain as target organs in hypertension is damaged more often and earlier. Neurological complications due to hypertension are frequently hyperdiagnosed in Russian neurological practice. Thus, headache, dizziness, impaired recall of recent events, nocturnal sleep disorders, and many other complaints in a hypertensive patient are usually regarded as a manifestation of dyscirculatory encephalopathy. At the same time headaches (tension headache and migraine in hypertensive patients are predominantly primary; headache associated with dramatic marked elevations in blood pressure is encountered in only a small number of patients. The role of cerebrovascular diseases in the development of dizziness in hypertensive patients is also overestimated. The vast majority of cases, patients with this complaint are in fact identified to have benign paroxysmal postural vertigo, Mеniеre’s disease, vestibular neuronitis, or vestibular migraine. Psychogenic disorders or multisensory insufficiency are generally responsible for non-systemic vertigo in hypertensive patients. Chronic cerebral circulatory insufficiency may cause non-systemic vertigo as a subjective equivalent of postural instability.Cognitive impairments (CIs are the most common and earliest manifestation of cerebrovascular lesion in hypertension. In most cases, CIs in hypertension were vascular and associated with cerebrovascular lesion due to lacunar infarcts and leukoaraiosis. However, mixed CIs frequently occur when hypertensive patients are also found to have signs of a degenerative disease, most commonly in Alzheimer’s disease.

  6. [Oliver Sacks and literary neurology].

    Science.gov (United States)

    Guardiola, Elena; Banos, Josep E

    2014-03-16

    Popular medical literature attempts to discuss medical topics using a language that is, as far as possible, free of all medical jargon so as to make it more easily understandable by the general public. The very complexity of neurology makes it more difficult for the stories dealing with this specialty to be understood easily by an audience without any kind of medical training. This paper reviews the works written by Oliver Sacks involving the field of neurology aimed at the general public, and the main characteristics and the clinical situation discussed by the author are presented. Some biographical notes about Oliver Sacks are also included and the 11 books published by this author over the last 40 years are also analysed. In each case they are put into a historical context and the most outstanding aspects justifying what makes them an interesting read are commented on. In most cases, the genesis of the work is explained together with its most significant features. The works of Sacks contain a wide range of very interesting clinical situations that are usually explained by means of a language that is readily comprehensible to the general public. It also provides neurologists with a holistic view of different clinical situations, together with a discussion of their biographical, historical and developmental components.

  7. Could a neurological disease be a part of Mozart's pathography?

    Science.gov (United States)

    Ivkić, Goran; Erdeljić, Viktorija

    2011-01-01

    As expected, since we recently celebrated the 250th anniversary of birth of Wolfgang Amadeus Mozart, there has been again a renewal of interest in his short but intensive life, as well as in the true reason of his untimely dead. Mozart lived and died in time when the medical knowledge was based mostly on subjective observations, without the established basics of standardized medical terminology and methodology. This leaves a great space for hypothesizing about his health problems, as well as about the cause of his death. The medical academic community attributed to Mozart approximately 150 different medical diagnoses. There is much speculation on the possible causes of Mozart's death: uremia, infection, rheumatic fever, trichinellosis, etc. Recently some authors have raised the question about a possible concomitant neurological disease. According to available records, Mozart has shown some elements of cyclotimic disorder, epilepsy and Gilles de la Tourette syndrome. Furthermore, the finding of a temporal fracture on (allegedly) Mozart's skull, gives a way to speculations about the possibility of a chronic subdural hematoma and its compressive effect on the temporal lobe. Despite numerous theories on Mozart's pathography that also include a concomitant neurological disorder, the medical and history records about Mozart's health status indicate that he probably had suffered from an infective illness, followed most likely by the reactivation of rheumatic fever, which was followed by strong immunologic reaction in the last days of his life. Taking all the above into consideration, it is reasonably to conclude that Mozart's neurological disturbances were caused by the intensity of the infective disease, and not primarily by a neurological disease.

  8. Birth control pill overdose

    Science.gov (United States)

    Symptoms of an overdose of birth control pills include: Breast tenderness Discolored urine Drowsiness Heavy vaginal bleeding (2 to 7 days after the overdose) Headache Emotional changes Nausea and vomiting Rash

  9. Accredited Birth Centers

    Science.gov (United States)

    ... Birthing Center-Cedar Park Accredited 1130 Cottonwood Creek Trail Building D Suite 2 Cedar Park, TX 78613 ... Health Accredited 29135 Ellensburg Avenue PO Box 1710 Gold Beach, OR 97444 541-425-5311 Accredited since ...

  10. Vaginal birth - slideshow

    Science.gov (United States)

    ... ency/presentations/100198.htm Vaginal birth - series—Normal anatomy To use the sharing features on this page, ... Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health Page last updated: ...

  11. Birth control after 1984.

    Science.gov (United States)

    Djerassi, C

    1970-09-04

    1) Eric Blair (alias George Orwell) can rest easy in his grave, because birth control by governmentally imposed methods, such as incorporation of a contraceptive agent into drinking water, is totally unfeasible by 1984. 2) Fundamentally new birth control procedures in the female (for example, a once-a-month luteolytic or abortifacient agent) and a male contraceptive pill probably will not be developed until the 1980's at the earliest, and then only if major steps of the type outlined in this article are instituted in the early 1970's. Development during the next decade of practical new methods of birth control without important incentives for continued active participation by the pharmaceutical industry is highly unlikely. If none are developed, birth control in 1984 will not differ significantly from that of today.

  12. On holographic defect entropy

    Energy Technology Data Exchange (ETDEWEB)

    Estes, John [Blackett Laboratory, Imperial College,London SW7 2AZ (United Kingdom); Jensen, Kristan [Department of Physics and Astronomy, University of Victoria,Victoria, BC V8W 3P6 (Canada); C.N. Yang Institute for Theoretical Physics, SUNY Stony Brook,Stony Brook, NY 11794-3840 (United States); O’Bannon, Andy [Rudolf Peierls Centre for Theoretical Physics, University of Oxford,1 Keble Road, Oxford OX1 3NP (United Kingdom); Tsatis, Efstratios [8 Kotylaiou Street, Athens 11364 (Greece); Wrase, Timm [Stanford Institute for Theoretical Physics, Stanford University,Stanford, CA 94305 (United States)

    2014-05-19

    We study a number of (3+1)- and (2+1)-dimensional defect and boundary conformal field theories holographically dual to supergravity theories. In all cases the defects or boundaries are planar, and the defects are codimension-one. Using holography, we compute the entanglement entropy of a (hemi-)spherical region centered on the defect (boundary). We define defect and boundary entropies from the entanglement entropy by an appropriate background subtraction. For some (3+1)-dimensional theories we find evidence that the defect/boundary entropy changes monotonically under certain renormalization group flows triggered by operators localized at the defect or boundary. This provides evidence that the g-theorem of (1+1)-dimensional field theories generalizes to higher dimensions.

  13. On holographic defect entropy

    Science.gov (United States)

    Estes, John; Jensen, Kristan; O'Bannon, Andy; Tsatis, Efstratios; Wrase, Timm

    2014-05-01

    We study a number of (3 + 1)- and (2 + 1)-dimensional defect and boundary conformal field theories holographically dual to supergravity theories. In all cases the defects or boundaries are planar, and the defects are codimension-one. Using holography, we compute the entanglement entropy of a (hemi-)spherical region centered on the defect (boundary). We define defect and boundary entropies from the entanglement entropy by an appropriate background subtraction. For some (3 + 1)-dimensional theories we find evidence that the defect/boundary entropy changes monotonically under certain renormalization group flows triggered by operators localized at the defect or boundary. This provides evidence that the g-theorem of (1 + 1)-dimensional field theories generalizes to higher dimensions.

  14. Hypnotherapy for birth.

    Science.gov (United States)

    Howell, Maggie

    2014-05-01

    There are many misunderstandings about hypnotherapy for birth and how best to support a woman who has chosen to use it. This article brings together experiences of midwives who have attended women in labour using hypnotherapy, and aims to help birth professionals understand a bit more about hypnotherapy and how they can best support women who are using it. It is a personal account from a hypnotherapy trainer reflecting on her encounters with midwives as they share experiences of observing hypnotherapy in action.

  15. Genital and Urinary Tract Defects

    Science.gov (United States)

    ... conditions > Genital and urinary tract defects Genital and urinary tract defects E-mail to a friend Please fill ... and extra fluids. What problems can genital and urinary tract defects cause? Genital and urinary tract defects affect ...

  16. [Post-ischemia neurologic recovery].

    Science.gov (United States)

    Guiraud-Chaumeil, Bernard; Pariente, Jérémie; Albucher, Jean-François; Loubinoux, Isabelle; Chollet, François

    2002-01-01

    Stroke is one of the most common affliction of patients with neurological symptoms. Rehabilitation of stroke patients is a difficult task. Our knowledge on rehabilitation has recently improved with the emergence of data from new neuroimaging techniques. A prospective, double blind, cross over, placebo, controlled study on 8 patients with pure motor hemiparesia, is conducted to determine the influence of a single dose of fluoxetine on motor performance and cerebral activation of patients recovering from stroke. Each patient undergoes two functional magnetic resonance imaging (fMRI) examinations, one under fluoxetine and one under placebo. A single dose of fluoxetine is enough to modulate cerebral sensori-motor activation and significantly improves motor skills of the affected side. Further studies are required to investigate the effect of chronic administration of fluoxetine on motor function.

  17. Neurology of foreign language aptitude

    Directory of Open Access Journals (Sweden)

    Adriana Biedroń

    2015-01-01

    Full Text Available This state-of-the art paper focuses on the poorly explored issue of foreign language aptitude, attempting to present the latest developments in this field and reconceptualizations of the construct from the perspective of neuroscience. In accordance with this goal, it first discusses general directions in neurolinguistic research on foreign language aptitude, starting with the earliest attempts to define the neurological substrate for talent, sources of difficulties in the neurolinguistic research on foreign language aptitude and modern research methods. This is followed by the discussion of the research on the phonology of foreign language aptitude with emphasis on functional and structural studies as well as their consequences for the knowledge of the concept. The subsequent section presents the studies which focus on lexical and morphosyntactic aspects of foreign language aptitude. The paper ends with a discussion of the limitations of contemporary research, the future directions of such research and selec ed methodological issues.

  18. Aphasia, Just a Neurological Disorder?

    Directory of Open Access Journals (Sweden)

    Mehmet Ozdemir

    2016-02-01

    Full Text Available Hashimoto%u2019s encephalopathy (HE is a rare disorder associated with autoimmune thyroiditis. Etiology of HE is not completely understood. High levels of serum antithyroid antibodies are seen in HE. Presentation with otoimmune thyroiditis, cognitive impairment, psychiatric and neurologic symptoms and absence of bacterial or viral enfections are characteristics of HE. HE is a steroid responsive encephalopathy. 60 years old male patient admitted to hospital with forget fulness continuing for 9 months and speech loss starting 2 days ago. Strong positivity of antithyroid antibodies increases the odds for HE. Thyroid function tests showed severe hypothyroidism. Electroencephalography and magnetic resonance imaging results were compatible with HE. HE is diagnosed with differantial diagnosis and exclusion of other reasons. This uncommon disorder is not recognised enough. High titres of serum antithyroid antiboides are always needed for diagnosis. Correct diagnosis requires awareness of wide range of cognitive and clinical presentations of HE.

  19. Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry

    NARCIS (Netherlands)

    Rizzo, Cristiano; Boenzi, Sara; Wanders, Ronald J. A.; Duran, Marinus; Caruso, Ubaldo; Dionisi-Vici, Carlo

    2003-01-01

    Patients with inherited defects of peroxisomal metabolism, a class of diseases with marked clinical and genetic heterogeneity, show a characteristic phenotype in most cases with severe neurologic impairment, craniofacial abnormalities, and hepatic and kidney dysfunction. For the differential

  20. Long term trends in prevalence of neural tube defects in Europe : population based study

    NARCIS (Netherlands)

    Khoshnood, Babak; Loane, Maria; de Walle, Hermien; Arriola, Larraitz; Addor, Marie-Claude; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Dias, Carlos; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Klungsoyr, Kari; Latos-Bielenska, Anna; Lynch, Catherine; McDonnell, Bob; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary T.; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Sipek, Antonin; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

    2015-01-01

    STUDY QUESTION What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for

  1. Cognitive-analytical therapy for a patient with functional neurological symptom disorder-conversion disorder (psychogenic myopia: A case study

    Directory of Open Access Journals (Sweden)

    Hamid Nasiri

    2015-01-01

    Full Text Available Functional neurological symptom disorder commonly presents with symptoms and defects of sensory and motor functions. Therefore, it is often mistaken for a medical condition. It is well known that functional neurological symptom disorder more often caused by psychological factors. There are three main approaches namely analytical, cognitive and biological to manage conversion disorder. Any of such approaches can be applied through short-term treatment programs. In this case, study a 12-year-old boy with the diagnosed functional neurological symptom disorder (psychogenic myopia was put under a cognitive-analytical treatment. The outcome of this treatment modality was proved successful.

  2. Pediatric neurology of the dog and cat.

    Science.gov (United States)

    Lavely, James A

    2006-05-01

    The neurologic examination in the puppy or kitten can be a challenging experience. Understanding the development of behavior reflexes and movement in puppies and kittens enables us to overcome some of these challenges and to recognize the neurologically abnormal patient. Subsequently,we can identify the neuroanatomic localization and generate a differential diagnosis list. This article first reviews the pediatric neurologic examination and then discusses diseases unique to these individuals.

  3. A study on limb reduction defects in six European regions

    NARCIS (Netherlands)

    Stoll, C; Calzolari, E; Cornel, M; GarciaMinaur, S; Garne, E; Nevin, N

    1996-01-01

    Limb reduction defects (LRD) gained especial attention after the thalidomide tragedy in 1962, LRD are common congenital malformations which present as obvious congenital anomalies recognized at birth, Therefore it might be assumed that they are well documented, However classification of LRDs is

  4. Sleep Disorders in Childhood Neurological Diseases

    Directory of Open Access Journals (Sweden)

    Abdullah Tolaymat

    2017-09-01

    Full Text Available Sleep problems are frequently addressed as a primary or secondary concern during the visit to the pediatric neurology clinic. Sleep disorders can mimic other neurologic diseases (e.g., epilepsy and movement disorders, and this adds challenges to the diagnostic process. Sleep disorders can significantly affect the quality of life and functionality of children in general and those with comorbid neurological diseases in particular. Understanding the pathophysiology of sleep disorders, recognizing the implications of sleep disorder in children with neurologic diseases and behavioral difficulties, and early intervention continue to evolve resulting in better neurocognitive outcomes.

  5. Challenges in neurological practice in developing countries.

    Science.gov (United States)

    Pandey, Sanjay

    2012-01-01

    The burden of neurological illness is much higher in developing countries. Neurological disorders in these countries are mainly due to poverty and malnutrition. Spectrums of diseases are also different in comparison with developed countries. Lack of resources, ignorance, and overpopulation make it very difficult and challenging to tackle this problem. Majority of the patients are seen by general practitioners who have little knowledge about neurological illnesses. Most of the countries have very few or no neurologist. There is a greater need of taking neurological care at primary care level where majority of the patients struggle with epilepsy, stroke and neuroinfections.

  6. Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease.

    Science.gov (United States)

    Brooks, P J

    2013-08-01

    Cockayne syndrome (CS) is a devastating neurodevelopmental disorder, with growth abnormalities, progeriod features, and sun sensitivity. CS is typically considered to be a DNA repair disorder, since cells from CS patients have a defect in transcription-coupled nucleotide excision repair (TC-NER). However, cells from UV-sensitive syndrome patients also lack TC-NER, but these patients do not suffer from the neurologic and other abnormalities that CS patients do. Also, the neurologic abnormalities that affect CS patients (CS neurologic disease) are qualitatively different from those seen in NER-deficient XP patients. Therefore, the TC-NER defect explains the sun sensitive phenotype common to both CS and UVsS, but cannot explain CS neurologic disease. However, as CS neurologic disease is of much greater clinical significance than the sun sensitivity, there is a pressing need to understand its molecular basis. While there is evidence for defective repair of oxidative DNA damage and mitochondrial abnormalities in CS cells, here I propose that the defects in transcription by both RNA polymerases I and II that have been documented in CS cells provide a better explanation for many of the severe growth and neurodevelopmental defects in CS patients than defective DNA repair. The implications of these ideas for interpreting results from mouse models of CS, and for the development of treatments and therapies for CS patients are discussed. Copyright © 2013. Published by Elsevier B.V.

  7. Is Three-Dimensional Echocardiography Useful in Evaluation of Atrial Septal Defects?

    Directory of Open Access Journals (Sweden)

    Charles German

    2015-06-01

    Full Text Available Of all birth defects, Congenital Heart Disease (CHD remains the most prevalent. These malformations are largely multifactorial with both environmental and genetic components, but known chromosomal abnormalities and mutations of single genes account for less than 10% of all cardiac defects (1. They affect approximately 6 to 13 newborns per 1000 live births (2 and are made up of 5 major Atrial Septal Defects (ASDs, including primum and secundum type defects, sinus venosus and coronary sinus defects, and Patent Foramen Ovale (PFO. However, there is debate within the medical community regarding inclusion of PFOs and coronary sinus defects within the realm of CHD. PFOs do not have absent septal tissue, and coronary sinus defects, or unroofed coronary sinus, represent an abnormal communication between the superior portion of the coronary sinus and the neighboring left atrium. Regardless, these anomalies can go undetected at birth, particularly if asymptomatic. Though some defects may be innocuous at birth, the continued shunting of blood between the atria can lead to pulmonary hypertension, heart failure, and even death. Thus, finding an accurate and reliable means of diagnosis via echocardiography is necessary in establishing the optimal treatment and ultimately improving patient mortality.

  8. Folate and neural tube defects - Recommendations from a Danish working group

    DEFF Research Database (Denmark)

    Rasmussen, Lone Banke; Andersen, Niels Lyhne; Andersson, G.

    1998-01-01

    A working group was established to evaluate the need for an increased folate intake in Danish women to decrease the risk of neural tube defects (NTDs). NTD are birth defects a which include anencephaly, encephalocele and spina bifida. In Denmark the incidence is about 1.4 per 1,000 pregnancies...

  9. Prediction of preterm birth.

    Science.gov (United States)

    Borg, F; Gravino, G; Schembri-Wismayer, P; Calleja-Agius, J

    2013-06-01

    Preterm delivery is birth occurring before 37 completed weeks of gestation. Preterm birth is the primary cause of morbidity and mortality in children especially if this occurs before 34 weeks of gestation. If preterm birth could be predicted and treated accordingly, this would greatly reduce mortality, morbidity and associated costs. There have been many attempts to develop an accurate and efficient method to predict preterm premature rupture of membranes (PPROM) and preterm labor that leads to spontaneous preterm birth (SPB). However, the initial signs and symptoms are most often mild and may even occur in normal pregnancies, making early detection rather difficult. The aim of this paper is to provide an overview of the current methods employed in predicting preterm birth occurring due to preterm labor and PPROM. Among these methods are risk scoring systems, cervical/vaginal screening for fetal fibronectin, cervical assessment by ultrasonography, uterine activity monitoring, biomarkers such as endocrine factors, cytokines and enzymes, fetal DNA and genetic polymorphism. SPB is multifactorial, and so it is highly unlikely that a single test can accurately predict SPB. A combination of biological markers is also reviewed in the estimation of the risk of preterm delivery.

  10. Birth Order and Psychopathology

    Directory of Open Access Journals (Sweden)

    Ajay Risal

    2012-01-01

    Full Text Available Context: Ordinal position the child holds within the sibling ranking of a family is related to intellectual functioning, personality, behavior, and development of psychopathology. Aim: To study the association between birth order and development of psychopathology in patients attending psychiatry services in a teaching hospital. Settings and Design: Hospital-based cross-sectional study. Materials and Methods: Retrospective file review of three groups of patients was carried out. Patient-related variables like age of onset, birth order, family type, and family history of mental illness were compared with psychiatry diagnosis (ICD-10 generated. Statistical Analysis: SPSS 13; descriptive statistics and one-way analysis of variance (ANOVA were used. Results: Mean age of onset of mental illness among the adult general psychiatry patients (group I, n = 527 was found to be 33.01 ± 15.073, while it was 11.68 ± 4.764 among the child cases (group II, n = 47 and 26.74 ± 7.529 among substance abuse cases (group III, n = 110. Among group I patients, commonest diagnosis was depression followed by anxiety and somatoform disorders irrespective of birth order. Dissociative disorders were most prevalent in the first born child (36.7% among group II patients. Among group III patients, alcohol dependence was maximum diagnosis in all birth orders. Conclusions: Depression and alcohol dependence was the commonest diagnosis in adult group irrespective of birth order.

  11. Birth order and psychopathology.

    Science.gov (United States)

    Risal, Ajay; Tharoor, Hema

    2012-07-01

    Ordinal position the child holds within the sibling ranking of a family is related to intellectual functioning, personality, behavior, and development of psychopathology. To study the association between birth order and development of psychopathology in patients attending psychiatry services in a teaching hospital. Hospital-based cross-sectional study. Retrospective file review of three groups of patients was carried out. Patient-related variables like age of onset, birth order, family type, and family history of mental illness were compared with psychiatry diagnosis (ICD-10) generated. SPSS 13; descriptive statistics and one-way analysis of variance (ANOVA) were used. Mean age of onset of mental illness among the adult general psychiatry patients (group I, n = 527) was found to be 33.01 ± 15.073, while it was 11.68 ± 4.764 among the child cases (group II, n = 47) and 26.74 ± 7.529 among substance abuse cases (group III, n = 110). Among group I patients, commonest diagnosis was depression followed by anxiety and somatoform disorders irrespective of birth order. Dissociative disorders were most prevalent in the first born child (36.7%) among group II patients. Among group III patients, alcohol dependence was maximum diagnosis in all birth orders. Depression and alcohol dependence was the commonest diagnosis in adult group irrespective of birth order.

  12. Defects in semiconductors

    CERN Document Server

    Romano, Lucia; Jagadish, Chennupati

    2015-01-01

    This volume, number 91 in the Semiconductor and Semimetals series, focuses on defects in semiconductors. Defects in semiconductors help to explain several phenomena, from diffusion to getter, and to draw theories on materials' behavior in response to electrical or mechanical fields. The volume includes chapters focusing specifically on electron and proton irradiation of silicon, point defects in zinc oxide and gallium nitride, ion implantation defects and shallow junctions in silicon and germanium, and much more. It will help support students and scientists in their experimental and theoret

  13. Folate Deficiency and Folic Acid Supplementation: The Prevention of Neural-Tube Defects and Congenital Heart Defects

    Directory of Open Access Journals (Sweden)

    Andrew E. Czeizel

    2013-11-01

    Full Text Available Diet, particularly vitamin deficiency, is associated with the risk of birth defects. The aim of this review paper is to show the characteristics of common and severe neural-tube defects together with congenital heart defects (CHD as vitamin deficiencies play a role in their origin. The findings of the Hungarian intervention (randomized double-blind and cohort controlled trials indicated that periconceptional folic acid (FA-containing multivitamin supplementation prevented the major proportion (about 90% of neural-tube defects (NTD as well as a certain proportion (about 40% of congenital heart defects. Finally the benefits and drawbacks of three main practical applications of folic acid/multivitamin treatment such as (i dietary intake; (ii periconceptional supplementation; and (iii flour fortification are discussed. The conclusion arrived at is indeed confirmation of Benjamin Franklin’s statement: “An ounce of prevention is better than a pound of care”.

  14. Prevention of preterm birth.

    LENUS (Irish Health Repository)

    Flood, Karen

    2012-02-01

    Preterm birth (delivery before 37 completed weeks of gestation) is common and rates are increasing. In the past, medical efforts focused on ameliorating the consequences of prematurity rather than preventing its occurrence. This approach resulted in improved neonatal outcomes, but it remains costly in terms of both the suffering of infants and their families and the economic burden on society. Increased understanding of the pathophysiology of preterm labor has altered the approach to this problem, with increased focus on preventive strategies. Primary prevention is a limited strategy which involves public education, smoking cessation, improved nutritional status and avoidance of late preterm births. Secondary prevention focuses on recurrent preterm birth which is the most recognisable risk factor. Widely accepted strategies include cervical cerclage, progesterone and dedicated clinics. However, more research is needed to explore the role of antibiotics and anti-inflammatory treatments in the prevention of this complex problem.

  15. Genomics of Preterm Birth

    Science.gov (United States)

    Swaggart, Kayleigh A.; Pavlicev, Mihaela; Muglia, Louis J.

    2015-01-01

    The molecular mechanisms controlling human birth timing at term, or resulting in preterm birth, have been the focus of considerable investigation, but limited insights have been gained over the past 50 years. In part, these processes have remained elusive because of divergence in reproductive strategies and physiology shown by model organisms, making extrapolation to humans uncertain. Here, we summarize the evolution of progesterone signaling and variation in pregnancy maintenance and termination. We use this comparative physiology to support the hypothesis that selective pressure on genomic loci involved in the timing of parturition have shaped human birth timing, and that these loci can be identified with comparative genomic strategies. Previous limitations imposed by divergence of mechanisms provide an important new opportunity to elucidate fundamental pathways of parturition control through increasing availability of sequenced genomes and associated reproductive physiology characteristics across diverse organisms. PMID:25646385

  16. Cerebral oxygenation after birth

    DEFF Research Database (Denmark)

    Hessel, Trine W; Hyttel-Sorensen, Simon; Greisen, Gorm

    2014-01-01

    AIM: To compare absolute values of regional cerebral tissue oxygenation (cStO2 ) during haemodynamic transition after birth and repeatability during steady state for two commercial near-infrared spectroscopy (NIRS) devices. METHODS: In a prospective observational study, the INVOS 5100C and FORE......: The INVOS and FORE-SIGHT cStO2 estimates showed oxygenation-level-dependent difference during birth transition. The better repeatability of FORE-SIGHT could be due to the lower response to change in saturation....

  17. PYRITINOL USAGE IN PEDIATRIC NEUROLOGY

    Directory of Open Access Journals (Sweden)

    N. N. Zavadenko

    2013-01-01

    Full Text Available Treatment of developmental disorders, correction of learning disabilities and behavioral problems in children should be prompt, complex and include pharmacotherapy with nootropic agents. The results of recent studies shown in this review proved effectiveness of pharmacotherapy with pyritinol in children with perinatal injury of central nervous system and its consequences, psychomotor and speech development delay, dyslexia, attention deficit/hyperactivity disorder, cognitive disorders and learning disabilities (including manifestations of epilepsy, chronic tic disorders and Tourette syndrome. Due to its ability to optimize metabolic processes in central nervous system, pyritinol is used in treatment of vegetative dysfunction in children and adolescents, especially associated with asthenical manifestations, as well as in complex therapy of exertion headache and migraine. The drug is effective in treatment of cognitive disorders in children and adolescents with epilepsy, pyritinol was administered without changing of the basic anticonvulsive therapy and no deterioration (increase of severity of seizures or intensity of epileptiform activity on electroencephalogramms was observed. Significant nootropic effect of pyritinol, including neurometabolic, neuroprotective, neurodynamic and other mechanisms, in association with safety and rare side effects of this drug determines its wide usage in pediatric neurology.

  18. Toward a Neurology of Loneliness

    Science.gov (United States)

    Cacioppo, Stephanie; Capitanio, John P.; Cacioppo, John T.

    2016-01-01

    Social isolation has been recognized as a major risk factor for morbidity and mortality in humans for more than a quarter century. The brain is the key organ of social connections and processes, however, and the same objective social relationship can be experienced as caring and protective or as exploitive and isolating. We review evidence that the perception of social isolation (i.e., loneliness) impacts brain and behavior and is a risk factor for broad-based morbidity and mortality. However, the causal role of loneliness on neural mechanisms and mortality is difficult to test conclusively in humans. Mechanistic animal studies provide a lens through which to evaluate the neurological effects of a member of a social species living chronically on the social perimeter. Experimental studies show that social isolation produces significant changes in brain structures and processes in adult social animals. These effects are not uniform across the brain or across species but instead are most evident in brain regions that reflect differences in the functional demands of solitary versus social living for a particular species. The human and animal literatures have developed independently, however, and significant gaps also exist. The current review underscores the importance of integrating human and animal research to delineate the mechanisms through which social relationships impact the brain, health, and well-being. PMID:25222636

  19. Gluten sensitivity and neurological manifestations

    Directory of Open Access Journals (Sweden)

    Agostino Berio

    2015-12-01

    Full Text Available The authors report on six cases of gluten-sensitivity, also defined non-celiac gluten sensitivity, characterized by abdominal features (diarrhea, bloating, pain, genetic positivity for predisposition to celiac disease (DQB1* 02 in all cases; DQA1*05 in three; DQA1*02 in two, DQB1*03 in two, negative anti-t-Transglutaminase antibodies, normal mucosa on biopsy in four cases, type 1 of Marsh in one case. The subjects presented frequent central nervous system (CNS symptoms: headache in three patients, somnolence in one, electroencephalogram aspecific alterations in three (in two of them with previous seizures, leptomeningeal cyst in one, intracranial calcification in one, cerebral gliosis in two. After a gluten-free diet, all intestinal and clinical CNS features remitted, but re-appeared after gluten reintroduction. On the basis of the neurological signs, the authors stress the relevance of immune innate system in the pathogenesis of these cases with possible subsequent evolution on immune adaptive system involvement.

  20. Endocannabinoid System in Neurological Disorders.

    Science.gov (United States)

    Ranieri, Roberta; Laezza, Chiara; Bifulco, Maurizio; Marasco, Daniela; Malfitano, Anna M

    2016-01-01

    Several studies support the evidence that the endocannabinoid system and cannabimimetic drugs might have therapeutic potential in numerous pathologies. These pathologies range from neurological disorders, atherosclerosis, stroke, cancer to obesity/metabolic syndrome and others. In this paper we review the endocannabinoid system signaling and its alteration in neurodegenerative disorders like multiple sclerosis, Alzheimer's disease, Parkinson's disease and Huntington's disease and discuss the main findings about the use of cannabinoids in the therapy of these pathologies. Despite different etiologies, neurodegenerative disorders exhibit similar mechanisms like neuro-inflammation, excitotoxicity, deregulation of intercellular communication, mitochondrial dysfunction and disruption of brain tissue homeostasis. Current treatments ameliorate the symptoms but are not curative. Interfering with the endocannabinoid signaling might be a valid therapeutic option in neuro-degeneration. To this aim, pharmacological intervention to modulate the endocannabinoid system and the use of natural and synthetic cannabimimetic drugs have been assessed. CB1 and CB2 receptor signaling contributes to the control of Ca2+ homeostasis, trophic support, mitochondrial activity, and inflammatory conditions. Several studies and patents suggest that the endocannabinoid system has neuro-protective properties and might be a target in neurodegenerative diseases.

  1. THE NEUROLOGICAL FACE OF CELIAC DISEASE

    Directory of Open Access Journals (Sweden)

    Sedat IŞIKAY

    2015-09-01

    Full Text Available BackgroundSeveral neurological disorders have also been widely described in celiac disease patients.ObjectiveThe aim of this study was to determine the incidence of accompanying different neurologic manifestations in children with celiac disease at the time of diagnosis and to discuss these manifestations in the light of the recent literature.MethodsThis prospective cross sectional study included 297 children diagnosed with celiac disease. The medical records of all patients were reviewed.ResultsIn neurological evaluation, totally 40 (13. 5% of the 297 celiac patients had a neurological finding including headache, epilepsy, migraine, mental retardation, breath holding spells, ataxia, cerebral palsy, attention deficit hyperactivity disorder, Down syndrome and Turner syndrome in order of frequency. There was not any significant difference between the laboratory data of the patients with and without neurological manifestations. However; type 3a biopsy was statistically significantly more common among patients without neurological manifestations, while type 3b biopsy was statistically significantly more common among patients with neurological manifestations.ConclusionIt is important to keep in mind that in clinical course of celiac disease different neurological manifestations may be reported.

  2. Task analysis in neurosciences programme design - neurological ...

    African Journals Online (AJOL)

    Defining educational objectives is the key to achieving the goal of professional competence in students. The technique of task analysis was selected to determine components of competence in clinical neurology appropriate to the needs of primary care. A survey of neurological problems in general practice revealed that ...

  3. Archives: African Journal of Neurological Sciences

    African Journals Online (AJOL)

    Items 1 - 28 of 28 ... Archives: African Journal of Neurological Sciences. Journal Home > Archives: African Journal of Neurological Sciences. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue ...

  4. Suspecting Neurological Dysfunction From E Mail Messages ...

    African Journals Online (AJOL)

    A non medical person suspected and confirmed neurological dysfunction in an individual, based only on e mail messages sent by the individual. With email communication becoming rampant “peculiar” email messages may raise the suspicion of neurological dysfunction. Organic pathology explaining the abnormal email ...

  5. Neurological and neurosurgical manifestations of human ...

    African Journals Online (AJOL)

    adults in Abidjan, Cote d'Ivoire and in Kinshasa and among inpatients in Ugandan hospitals. Ninety per cent of deaths ... various parts of the continent. Neurological manifestations. The spectrum of neurological diseases reported in ... Primary effects of HIV. HEADACHE. Case report. A Malawian 46-year-old male senior ...

  6. Child Neurology Education for Pediatric Residents.

    Science.gov (United States)

    Albert, Dara V F; Patel, Anup D; Behnam-Terneus, Maria; Sautu, Beatriz Cunill-De; Verbeck, Nicole; McQueen, Alisa; Fromme, H Barrett; Mahan, John D

    2017-03-01

    The aim of this study was to evaluate whether the current state of child neurology education during pediatric residency provides adequate preparation for pediatric practice. A survey was sent to recent graduates from 3 pediatric residency programs to assess graduate experience, perceived level of competence, and desire for further education in child neurology. Responses from generalists versus subspecialists were compared. The response rate was 32%, half in general pediatric practice. Only 22% feel very confident in approaching patients with neurologic problems. This may represent the best-case scenario as graduates from these programs had required neurology experiences, whereas review of Accreditation Council of Graduate Medical Education-accredited residency curricula revealed that the majority of residencies do not. Pediatric neurologic problems are common, and pediatric residency graduates do encounter such problems in practice. The majority of pediatricians report some degree of confidence; however, some clear areas for improvement are apparent.

  7. Periconception folic acid supplementation, fetal growth and the risks of low birth weight and preterm birth: the Generation R Study.

    Science.gov (United States)

    Timmermans, Sarah; Jaddoe, Vincent W V; Hofman, Albert; Steegers-Theunissen, Régine P M; Steegers, Eric A P

    2009-09-01

    Countries worldwide, including the Netherlands, recommend that women planning pregnancy use a folic acid supplement during the periconception period. Some countries even fortify staple foods with folic acid. These recommendations mainly focus on the prevention of neural tube defects, despite increasing evidence that folic acid may also influence birth weight. We examined whether periconception folic acid supplementation affects fetal growth and the risks of low birth weight, small for gestational age (SGA) and preterm birth, in the Generation R Study in Rotterdam, the Netherlands. Main outcome measures were fetal growth measured in mid- and late pregnancy by ultrasound, birth weight, SGA and preterm birth in relation to periconception folic supplementation (0.4-0.5 mg). Data on 6353 pregnancies were available. Periconception folic acid supplementation was positively associated with fetal growth. Preconception folic acid supplementation was associated with 68 g higher birth weight (95 % CI 37.2, 99.0) and 13 g higher placental weight (95 % CI 1.1, 25.5), compared to no folic acid supplementation. In these analyses parity significantly modified the effect estimates. Start of folic acid supplementation after pregnancy confirmation was associated with a reduced risk of low birth weight (OR 0.61, 95 % CI 0.40, 0.94). Similarly, reduced risks for low birth weight and SGA were observed for women who started supplementation preconceptionally, compared to those who did not use folic acid (OR 0.43, 95 % CI 0.28, 0.69 and OR 0.40, 95 % CI 0.22, 0.72). In conclusion, periconception folic acid supplementation is associated with increased fetal growth resulting in higher placental and birth weight, and decreased risks of low birth weight and SGA.

  8. Neural tube defects: recent advances, unsolved questions, and controversies.

    Science.gov (United States)

    Copp, Andrew J; Stanier, Philip; Greene, Nicholas D E

    2013-08-01

    Neural tube defects are severe congenital malformations affecting around one in every 1000 pregnancies. An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention with folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in the UK. Genetic predisposition accounts for most of the risk of neural tube defects, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but studies of mouse models of neural tube defects show that anencephaly, open spina bifida, and craniorachischisis result from failure of primary neurulation, whereas skin-covered spinal dysraphism results from defective secondary neurulation. Other malformations, such as encephalocele, are likely to be postneurulation disorders. Copyright © 2013 Elsevier Ltd. All rights reserved.

  9. Defects at oxide surfaces

    CERN Document Server

    Thornton, Geoff

    2015-01-01

    This book presents the basics and characterization of defects at oxide surfaces. It provides a state-of-the-art review of the field, containing information to the various types of surface defects, describes analytical methods to study defects, their chemical activity and the catalytic reactivity of oxides. Numerical simulations of defective structures complete the picture developed. Defects on planar surfaces form the focus of much of the book, although the investigation of powder samples also form an important part. The experimental study of planar surfaces opens the possibility of applying the large armoury of techniques that have been developed over the last half-century to study surfaces in ultra-high vacuum. This enables the acquisition of atomic level data under well-controlled conditions, providing a stringent test of theoretical methods. The latter can then be more reliably applied to systems such as nanoparticles for which accurate methods of characterization of structure and electronic properties ha...

  10. Birth control pills - overview

    Science.gov (United States)

    ... also have their blood pressure checked 3 months after they begin to take the pill. Birth control pills only work well if the woman remembers to take her pill daily without missing a day. Only 2 or 3 women out of 100 ...

  11. Birth room images

    DEFF Research Database (Denmark)

    Bowden, Calida; Sheehan, Athena; Foureur, Maralyn Jean

    2016-01-01

    Objective: this study examined images of birth rooms in developed countries to analyse the messages and visual discourse being communicated through images. Design: a small qualitative study using Kress and van Leeuwen's (2006) social semiotic theoretical framework for image analysis, a form of di...

  12. Birth Order Debate Resolved?

    Science.gov (United States)

    Zajonc, R. B.

    2001-01-01

    Critiques Rodgers et al.'s June 2000 research on the relation between birth order and intelligence, which suggests that it is a methodological illusion. Explains how the intellectual environment and the teaching function (whereby older children tutor younger ones) contribute to the growth of intellectual maturity, the first negatively and the…

  13. Birth Control Methods

    Science.gov (United States)

    ... man to do. It takes a lot of self-control. Even if you use withdrawal, sperm can be ... 1–104. Food and Drug Administration. (2016). Birth Control: Medicines to Help You. Food and Drug Administration. (2013). FC2 Female condom . National Cancer Institute. (2012). Oral Contraceptives and Cancer Risk . Wright, ...

  14. The Birth Order Puzzle.

    Science.gov (United States)

    Zajonc, R. B.; And Others

    1979-01-01

    Discusses the controversy of the relationship between birth order and intellectual performance through a detailed evaluation of the confluence model which assumes that the rate of intellectual growth is a function of the intellectual environment within the family and associated with the special circumstances of last children. (CM)

  15. Neurology in the Vietnam War.

    Science.gov (United States)

    Gunderson, Carl H; Daroff, Robert B

    2016-01-01

    Between December 1965 and December 1971, the United States maintained armed forces in Vietnam never less than 180,000 men and women in support of the war. At one time, this commitment exceeded half a million soldiers, sailors, and airmen from both the United States and its allies. Such forces required an extensive medical presence, including 19 neurologists. All but two of the neurologists had been drafted for a 2-year tour of duty after deferment for residency training. They were assigned to Vietnam for one of those 2 years in two Army Medical Units and one Air Force facility providing neurological care for American and allied forces, as well as many civilians. Their practice included exposure to unfamiliar disorders including cerebral malaria, Japanese B encephalitis, sleep deprivation seizures, and toxic encephalitis caused by injection or inhalation of C-4 explosive. They and neurologists at facilities in the United States published studies on all of these entities both during and after the war. These publications spawned the Defense and Veterans Head Injury Study, which was conceived during the Korean War and continues today as the Defense and Veterans Head Injury Center. It initially focused on post-traumatic epilepsy and later on all effects of brain injury. The Agent Orange controversy arose after the war; during the war, it was not perceived as a threat by medical personnel. Although soldiers in previous wars had developed serious psychological impairments, post-traumatic stress disorder was formally recognized in the servicemen returning from Vietnam. © 2016 S. Karger AG, Basel.

  16. [Neurological disease and facial recognition].

    Science.gov (United States)

    Kawamura, Mitsuru; Sugimoto, Azusa; Kobayakawa, Mutsutaka; Tsuruya, Natsuko

    2012-07-01

    To discuss the neurological basis of facial recognition, we present our case reports of impaired recognition and a review of previous literature. First, we present a case of infarction and discuss prosopagnosia, which has had a large impact on face recognition research. From a study of patient symptoms, we assume that prosopagnosia may be caused by unilateral right occipitotemporal lesion and right cerebral dominance of facial recognition. Further, circumscribed lesion and degenerative disease may also cause progressive prosopagnosia. Apperceptive prosopagnosia is observed in patients with posterior cortical atrophy (PCA), pathologically considered as Alzheimer's disease, and associative prosopagnosia in frontotemporal lobar degeneration (FTLD). Second, we discuss face recognition as part of communication. Patients with Parkinson disease show social cognitive impairments, such as difficulty in facial expression recognition and deficits in theory of mind as detected by the reading the mind in the eyes test. Pathological and functional imaging studies indicate that social cognitive impairment in Parkinson disease is possibly related to damages in the amygdalae and surrounding limbic system. The social cognitive deficits can be observed in the early stages of Parkinson disease, and even in the prodromal stage, for example, patients with rapid eye movement (REM) sleep behavior disorder (RBD) show impairment in facial expression recognition. Further, patients with myotonic dystrophy type 1 (DM 1), which is a multisystem disease that mainly affects the muscles, show social cognitive impairment similar to that of Parkinson disease. Our previous study showed that facial expression recognition impairment of DM 1 patients is associated with lesion in the amygdalae and insulae. Our study results indicate that behaviors and personality traits in DM 1 patients, which are revealed by social cognitive impairment, are attributable to dysfunction of the limbic system.

  17. Neurology advanced practice providers: A position paper of the American Academy of Neurology.

    Science.gov (United States)

    Schwarz, Heidi B; Fritz, Joseph V; Govindarajan, Raghav; Penfold Murray, Rebecca; Boyle, Kathryn B; Getchius, Thomas S D; Freimer, Miriam

    2015-08-01

    There are many factors driving health care reform, including unsustainable costs, poor outcomes, an aging populace, and physician shortages. These issues are particularly relevant to neurology. New reimbursement models are based on value and facilitated by the use of multidisciplinary teams. Integration of advanced practice providers (APPs) into neurology practice offers many advantages with new models of care. Conversely, there are many and varied challenges financially and logistically with these practice models. The American Academy of Neurology has formed a Work Group to address the needs of both neurologists and neurologic APPs and monitor the effect of APPs on quality and cost of neurologic care.

  18. Psychomotor Development and School Performance of Children Who Were Low-Birth Infants: Relation to Neurobehavioural Condition in the Newborn Period.

    Science.gov (United States)

    Leijon, Ingemar; And Others

    This study investigated neurological and psychomotor development and intelligence from birth to 8 years of age among Swedish infants with intrauterine growth retardation (IUGR). The relationship between neonatal neurological and behavioral condition to follow-up results was also investigated. Twenty-two infants with IUGR were arranged in 2 groups…

  19. [Charles Miller Fisher: a giant of neurology].

    Science.gov (United States)

    Tapia, Jorge

    2013-08-01

    C. Miller Fisher MD, one of the great neurologists in the 20th century, died in April 2012. Born in Canada, he studied medicine at the University of Toronto. As a Canadian Navy medical doctor he participated in World War II and was a war prisoner from 1941 to 1944. He did a residency in neurology at the Montreal Neurological Institute between 1946 and 1948, and later on was a Fellow in Neurology and Neuropathology at the Boston City Hospital. In 1954 he entered the Massachusetts General Hospital as a neurologist and neuropathologist, where he remained until his retirement, in 2005. His academic career ended as Professor Emeritus at Harvard University. His area of special interest in neurology was cerebrovascular disease (CVD). In 1954 he created the first Vascular Neurology service in the world and trained many leading neurologists on this field. His scientific contributions are present in more than 250 publications, as journal articles and book chapters. Many of his articles, certainly not restricted to CVD, were seminal in neurology. Several concepts and terms that he coined are currently used in daily clinical practice. The chapters on CVD, in seven consecutive editions of Harrison's Internal Medicine textbook, are among his highlights. His death was deeply felt by the neurological community.

  20. Neurocritical care education during neurology residency

    Science.gov (United States)

    Drogan, O.; Manno, E.; Geocadin, R.G.; Ziai, W.

    2012-01-01

    Objective: Limited information is available regarding the current state of neurocritical care education for neurology residents. The goal of our survey was to assess the need and current state of neurocritical care training for neurology residents. Methods: A survey instrument was developed and, with the support of the American Academy of Neurology, distributed to residency program directors of 132 accredited neurology programs in the United States in 2011. Results: A response rate of 74% (98 of 132) was achieved. A dedicated neuroscience intensive care unit (neuro-ICU) existed in 64%. Fifty-six percent of residency programs offer a dedicated rotation in the neuro-ICU, lasting 4 weeks on average. Where available, the neuro-ICU rotation was required in the vast majority (91%) of programs. Neurology residents' exposure to the fundamental principles of neurocritical care was obtained through a variety of mechanisms. Of program directors, 37% indicated that residents would be interested in performing away rotations in a neuro-ICU. From 2005 to 2010, the number of programs sending at least one resident into a neuro-ICU fellowship increased from 14% to 35%. Conclusions: Despite the expansion of neurocritical care, large proportions of US neurology residents have limited exposure to a neuro-ICU and neurointensivists. Formal training in the principles of neurocritical care may be highly variable. The results of this survey suggest a charge to address the variability of resident education and to develop standardized curricula in neurocritical care for neurology residents. PMID:22573636

  1. Emerging Links between Homeostatic Synaptic Plasticity and Neurological Disease

    Directory of Open Access Journals (Sweden)

    Dion eDickman

    2013-11-01

    Full Text Available Homeostatic signaling systems are ubiquitous forms of biological regulation, having been studied for hundreds of years in the context of diverse physiological processes including body temperature and osmotic balance. However, only recently has this concept been brought to the study of excitatory and inhibitory electrical activity that the nervous system uses to establish and maintain stable communication. Synapses are a primary target of neuronal regulation with a variety of studies over the past 15 years demonstrating that these cellular junctions are under bidirectional homeostatic control. Recent work from an array of diverse systems and approaches has revealed exciting new links between homeostatic synaptic plasticity and a variety of seemingly disparate neurological and psychiatric diseases. These include autism spectrum disorders, intellectual disabilities, schizophrenia, and Fragile X Syndrome. Although the molecular mechanisms through which defective homeostatic signaling may lead to disease pathogenesis remain unclear, rapid progress is likely to be made in the coming years using a powerful combination of genetic, imaging, electrophysiological, and next generation sequencing approaches. Importantly, understanding homeostatic synaptic plasticity at a cellular and molecular level may lead to developments in new therapeutic innovations to treat these diseases. In this review we will examine recent studies that demonstrate homeostatic control of postsynaptic protein translation, retrograde signaling, and presynaptic function that may contribute to the etiology of complex neurological and psychiatric diseases.

  2. Male sexual dysfunction and infertility associated with neurological disorders

    Science.gov (United States)

    Fode, Mikkel; Krogh-Jespersen, Sheila; Brackett, Nancy L; Ohl, Dana A; Lynne, Charles M; Sønksen, Jens

    2012-01-01

    Normal sexual and reproductive functions depend largely on neurological mechanisms. Neurological defects in men can cause infertility through erectile dysfunction, ejaculatory dysfunction and semen abnormalities. Among the major conditions contributing to these symptoms are pelvic and retroperitoneal surgery, diabetes, congenital spinal abnormalities, multiple sclerosis and spinal cord injury. Erectile dysfunction can be managed by an increasingly invasive range of treatments including medications, injection therapy and the surgical insertion of a penile implant. Retrograde ejaculation is managed by medications to reverse the condition in mild cases and in bladder harvest of semen after ejaculation in more severe cases. Anejaculation might also be managed by medication in mild cases while assisted ejaculatory techniques including penile vibratory stimulation and electroejaculation are used in more severe cases. If these measures fail, surgical sperm retrieval can be attempted. Ejaculation with penile vibratory stimulation can be done by some spinal cord injured men and their partners at home, followed by in-home insemination if circumstances and sperm quality are adequate. The other options always require assisted reproductive techniques including intrauterine insemination or in vitro fertilization with or without intracytoplasmic sperm injection. The method of choice depends largely on the number of motile sperm in the ejaculate. PMID:22138899

  3. Standardized patient outcomes trial (SPOT in neurology

    Directory of Open Access Journals (Sweden)

    Joseph E. Safdieh

    2011-01-01

    Full Text Available Background: The neurologic examination is a challenging component of the physical examination for medical students. In response, primarily based on expert consensus, medical schools have supplemented their curricula with standardized patient (SP sessions that are focused on the neurologic examination. Hypothesis-driven quantitative data are needed to justify the further use of this resource-intensive educational modality, specifically regarding whether using SPs to teach the neurological examination effects a long-term benefit on the application of neurological examination skills. Methods: This study is a cross-sectional analysis of prospectively collected data from medical students at Weill Cornell Medical College. The control group (n=129 received the standard curriculum. The intervention group (n=58 received the standard curriculum and an additional SP session focused on the neurologic examination during the second year of medical school. Student performance on the neurologic examination was assessed in the control and intervention groups via an OSCE administered during the fourth year of medical school. A Neurologic Physical Exam (NPE score of 0.0 to 6.0 was calculated for each student based on a neurologic examination checklist completed by the SPs during the OSCE. Composite NPE scores in the control and intervention groups were compared with the unpaired t-test. Results: In the fourth year OSCE, composite NPE scores in the intervention group (3.5±1.1 were statistically significantly greater than those in the control group (2.2±1.1 (p<0.0001. Conclusions: SP sessions are an effective tool for teaching the neurologic examination. We determined that a single, structured SP session conducted as an adjunct to our traditional lectures and small groups is associated with a statistically significant improvement in student performance measured 2 years after the session.

  4. Neurological examination: pioneering authors and their books

    Directory of Open Access Journals (Sweden)

    Péricles Maranhão-Filho

    2015-02-01

    Full Text Available The objective of this article is to highlight some of the most important pioneering books specifically focused on the neurological examination and their authors. During the XIX Century, Alexander Hammond, William Gowers and Charles Mills pioneered the neurological literature, followed in the XX Century by Aloysio de Castro, Monrad-Krohn, Derek Denny-Brown, Robert Wartenberg, Gordon Holmes, and Russel DeJong. With determination and a marked sense of observation and research, they competently developed and spread the technique and art of the neurological exam.

  5. Sleep Disorder Diagnosis During Pregnancy and Risk of Preterm Birth.

    Science.gov (United States)

    Felder, Jennifer N; Baer, Rebecca J; Rand, Larry; Jelliffe-Pawlowski, Laura L; Prather, Aric A

    2017-09-01

    To test the hypothesis that sleep disorder diagnosis would be associated with increased risk of preterm birth and to examine risk by gestational age, preterm birth type, and specific sleep disorder (insomnia, sleep apnea, movement disorder, and other). In this observational study, participants were from a cohort of nearly 3 million women in California between 2007 and 2012. Inclusion criteria were women with singleton neonates liveborn between 20 and 44 weeks of gestation without chromosomal abnormalities or major structural birth defects linked to a hospital discharge database maintained by the California Office of Statewide Health Planning and Development and without mental illness during pregnancy. Sleep disorder was defined based on International Classification of Diseases, 9th Revision, Clinical Modification diagnostic code (n=2,265). Propensity score matching was used to select a referent population at a one-to-one ratio. Odds of preterm birth were examined by gestational age (less than 34 weeks, 34-36 weeks, and less than 37 weeks of gestation) and type (spontaneous, indicated). Prevalence of preterm birth (before 37 weeks of gestation) was 10.9% in the referent group compared with 14.6% among women with a recorded sleep disorder diagnosis. Compared with the referent group, odds (95% CI, P value, percentage) of preterm birth were 1.3 (1.0-1.7, P=.023, 14.1%) for insomnia and 1.5 (1.2-1.8, Ppreterm birth type. Odds of preterm birth were not significantly increased for sleep-related movement disorders or other sleep disorders. Insomnia and sleep apnea were associated with significantly increased risk of preterm birth. Considering the high prevalence of sleep disorders during pregnancy and availability of evidence-based nonpharmacologic interventions, current findings suggest that screening for severe presentations would be prudent.

  6. Validation of birth outcomes from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS): population-based analysis from the Massachusetts Outcome Study of Assisted Reproductive Technology (MOSART).

    Science.gov (United States)

    Stern, Judy E; Gopal, Daksha; Liberman, Rebecca F; Anderka, Marlene; Kotelchuck, Milton; Luke, Barbara

    2016-09-01

    To assess the validity of outcome data reported to the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) compared with data from vital records and the birth defects registry in Massachusetts. Longitudinal cohort. Not applicable. A total of 342,035 live births and fetal deaths from Massachusetts mothers giving birth in the state from July 1, 2004, to December 31, 2008; 9,092 births and fetal deaths were from mothers who had conceived with the use of assisted reproductive technology (ART) and whose cycle data had been reported to the SART CORS. Not applicable. Percentage agreement between maternal race and ethnicity, delivery outcome (live birth or fetal death), plurality (singleton, twin, or triplet+), delivery date, and singleton birth weight reported in the SART CORS versus vital records; sensitivity and specificity for birth defects among singletons as reported in the SART CORS versus the Massachusetts Birth Defects Monitoring Program (BDMP). There was >95% agreement between the SART CORS and vital records for fields of maternal race/ethnicity, live birth/fetal death, and plurality; birth outcome date was within 1 day with 94.9% agreement and birth weight was within 100 g with 89.6% agreement. In contrast, sensitivity for report of any birth defect was 38.6%, with a range of 18.4%-50.0%, for specific birth defect categories. Although most SART CORS outcome fields are accurately reported, birth defect variables showed poor sensitivity compared with the gold standard data from the BDMP. We suggest that reporting of birth defects be discontinued. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. International Trends of Down Syndrome 1993-2004 : Births in Relation to Maternal Age and Terminations of Pregnancies

    NARCIS (Netherlands)

    Cocchi, Guido; Gualdi, Silvia; Bower, Caroline; Halliday, Jane; Jonsson, Bjorn; Myrelid, Asa; Mastroiacovo, Pierpaolo; Amar, Emmanuelle; Bakker, Marian K.; Correa, Andrea; Doray, Berenice; Melve, Kari Klungsor; Koshnood, Babak; Landau, Daniella; Mutchinick, Osvaldo M.; Pierini, Anna; Ritvanen, Anukka; Ruddock, Vera; Scarano, Giocchino; Sibbald, Barbara; Sipek, Antonin; Tenconi, Romano; Tucker, Dave; Anneren, Goran

    BACKGROUND: The aim of this study was to examine trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). METHODS: Trends of births with DS (live-born and

  8. Screening for spontaneous preterm birth

    NARCIS (Netherlands)

    van Os, M.A.; van Dam, A.J.E.M.

    2015-01-01

    Preterm birth is the most important cause of perinatal morbidity and mortality worldwide. In this thesis studies on spontaneous preterm birth are presented. The main objective was to investigate the predictive capacity of mid-trimester cervical length measurement for spontaneous preterm birth in a

  9. Resuscitation at birth and cognition at 8 years of age: a cohort study.

    Science.gov (United States)

    Odd, David E; Lewis, Glyn; Whitelaw, Andrew; Gunnell, David

    2009-05-09

    Mild cerebral injury might cause subtle defects in cognitive function that are only detectable as the child grows older. Our aim was to determine whether infants receiving resuscitation after birth, but with no symptoms of encephalopathy, have reduced intelligence quotient (IQ) scores in childhood. Three groups of infants were selected from the Avon Longitudinal Study of Parents and Children: infants who were resuscitated at birth but were asymptomatic for encephalopathy and had no further neonatal care (n=815), those who were resuscitated and had neonatal care for symptoms of encephalopathy (n=58), and the reference group who were not resuscitated, were asymptomatic for encephalopathy, and had no further neonatal care (n=10 609). Cognitive function was assessed at a mean age of 8.6 years (SD 0.33); a low IQ score was defined as less than 80. IQ scores were obtained for 5953 children with a shortened version of the Weschler intelligence scale for children (WISC-III), the remaining 5529 were non-responders. All children did not complete all parts of the test, and therefore multiplied IQ values comparable to the full-scale test were only available for 5887 children. Results were adjusted for clinical and social covariates. Chained equations were used to impute missing values of covariates. In the main analysis at 8 years of age (n=5887), increased risk of a low IQ score was recorded in both resuscitated infants asymptomatic for encephalopathy (odds ratio 1.65 [95% CI 1.13-2.43]) and those with symptoms of encephalopathy (6.22 [1.57-24.65]). However, the population of asymptomatic infants was larger than that of infants with encephalopathy, and therefore the population attributable risk fraction for an IQ score that might be attributable to the need for resuscitation at birth was 3.4% (95% CI 0.5-6.3) for asymptomatic infants and 1.2% (0.2-2.2) for those who developed encephalopathy. Infants who were resuscitated had increased risk of a low IQ score, even if they

  10. Effect of very low birth weight and subnormal head size on cognitive abilities at school age.

    Science.gov (United States)

    Hack, M; Breslau, N; Weissman, B; Aram, D; Klein, N; Borawski, E

    1991-07-25

    We tested the hypothesis that very-low-birth-weight (less than 1.5 kg) infants with perinatal growth failure whose head size is not normal by eight months of age (corrected for prematurity) have significantly poorer growth and neurocognitive abilities at school age than very-low-birth-weight children with a normal head size at eight months. We also hypothesized that these differences would persist even after control for major neurologic impairment and perinatal and sociodemographic risk factors. We have followed a cohort of very-low-birth-weight children since their birth during the period 1977 to 1979. At eight to nine years of age 249 children were evaluated with a neurologic examination and tests of intelligence; receptive and expressive language skills; speech, reading, mathematics, and spelling aptitude; visual and fine motor abilities; and behavior. Ages were corrected for premature birth. Among these 249 very-low-birth-weight children, head size was subnormal (less than the mean -2 SD for age) at birth in 30 (12 percent), at term in 57 (23 percent), and at eight months in 33 (13 percent). As compared with the 216 children with normal head sizes, the 33 children with subnormal head sizes at the age of eight months had significantly lower mean birth weights (1.1 vs. 1.2 kg) and higher neonatal risk scores (71 vs. 53) and at the age of eight years had a higher incidence of neurologic impairment (21 percent vs. 8 percent) and lower IQ scores (mean verbal, 84 vs. 98). Even among the children without neurologic abnormalities, a subnormal head size at eight months of age was predictive of poorer verbal and performance IQ scores at eight years of age; lower scores for receptive language, speech, reading, mathematics, and spelling; and a higher incidence of hyperactivity. In multiple regression analyses to control for socioeconomic and neonatal risk factors, intrauterine growth failure, birth weight, and neurologic impairment, a subnormal head size at eight months of

  11. Relationship between Pregnancy and Birth Complications and the Later Development of Learning Disabilities.

    Science.gov (United States)

    Colletti, Lorraine F.

    1979-01-01

    Perinatal histories of 50 learning-disabled children (ages 7 to 12) with minimum neurological dysfunctions were evaluated (using a normative population for comparison) to discover if any relationship existed between pregnancy and birth complications and the development of learning disabilities. The experimental group had had a significantly higher…

  12. Fractional anisotropy in white matter tracts of very-low-birth-weight infants

    NARCIS (Netherlands)

    Dudink, Jeroen; Lequin, Maarten; van Pul, Carola; Buijs, Jan; Conneman, Nikk; van Goudoever, Johannes; Govaert, Paul

    2007-01-01

    Advances in neonatal intensive care have not yet reduced the high incidence of neurodevelopmental disability among very-low-birth-weight (VLBW) infants. As neurological deficits are related to white-matter injury, early detection is important. Diffusion tensor imaging (DTI) could be an excellent

  13. New Delhi Birth Cohort

    Indian Academy of Sciences (India)

    First page Back Continue Last page Overview Graphics. New Delhi Birth Cohort. In childhood Less than 1% were obese (IOTF 30 kg/m2). Mean BMI SD ranged from –0.4 to –1.0 (CDC). At 26-32 years 10% were obese (BMI >30 kg/m2). ~50% overweight (BMI > 25 kg/m2);. ~65% overweight (BMI > 23 kg/m2). 10% had IGT.

  14. Atrioventricular Canal Defect

    Science.gov (United States)

    ... tract infections. Atrioventricular canal defect can cause recurrent bouts of lung infections. Heart failure. Untreated, atrioventricular canal ... Leaky heart valves Narrowing of the heart valves Abnormal heart rhythm Breathing difficulties associated with lung damage ...

  15. Ventricular Septal Defect (VSD)

    Science.gov (United States)

    ... before getting pregnant. If you have a family history of heart defects or other genetic disorders, consider talking with a genetic counselor before getting pregnant. By Mayo Clinic Staff . Mayo Clinic Footer Legal Conditions and Terms ...

  16. Repairing Nanoparticle Surface Defects

    NARCIS (Netherlands)

    Marino, Emanuele; Kodger, Thomas E.; Crisp, R.W.; Timmerman, Dolf; MacArthur, Katherine E.; Heggen, Marc; Schall, Peter

    2017-01-01

    Solar devices based on semiconductor nanoparticles require the use of conductive ligands; however, replacing the native, insulating ligands with conductive metal chalcogenide complexes introduces structural defects within the crystalline nanostructure that act as traps for charge carriers. We

  17. Neural tube defects

    Directory of Open Access Journals (Sweden)

    M.E. Marshall

    1981-09-01

    Full Text Available Neural tube defects refer to any defect in the morphogenesis of the neural tube, the most common types being spina bifida and anencephaly. Spina bifida has been recognised in skeletons found in north-eastern Morocco and estimated to have an age of almost 12 000 years. It was also known to the ancient Greek and Arabian physicians who thought that the bony defect was due to the tumour. The term spina bifida was first used by Professor Nicolai Tulp of Amsterdam in 1652. Many other terms have been used to describe this defect, but spina bifida remains the most useful general term, as it describes the separation of the vertebral elements in the midline.

  18. Endocardial cushion defect

    Science.gov (United States)

    ... Philadelphia, PA: Elsevier; 2016:chap 426. Kouchoukos NT, Blackstone EH, Hanley FL, Kirklin JK. Atrioventricular septal defect. In: Kouchoukos NT, Blackstone EH, Hanley FL, Kirklin JK, eds. Kirklin/Barratt- ...

  19. Defects in materials

    Energy Technology Data Exchange (ETDEWEB)

    Bristowe, P.D. (MIT, Cambridge, MA (US)); Epperson, J.E.; Griffith, J.E. (Argonne National Lab., Argonne, IL (US)); Griffith, J.E. (AT and T Bell Lab., Murray Hill, NJ (US)); Liliental-Weber, Z. (Lawrence Berkeley Lab., Berkeley, CA (US))

    1991-01-01

    This volume represents the proceedings of the Fourth International Symposium held by MRS on the Characterization of Defects in Materials. Like its predecessors, the symposium was designed to be broad in scope and cover the structure and properties of all types of defects in all classes of materials. To a large extent this goal was achieved since papers were presented describing investigations on point, line, and planar defects (including surfaces) in metals, alloys, polymers, ceramics, amorphous materials, semiconductors, superconductors, composites and intercalated fibers. The wide variety of systems studied clearly reflects the importance of defects in materials science. While experimental investigations still dominated the symposium, a significant fraction of contributions focused on theory and simulation. This book contains 142 of the 206 papers presented in both oral and poster sessions representing contributions from fourteen different countries.

  20. LEARNERS SATISFACTION FACTORS IN NEUROLOGY RELATED MOOCs

    Directory of Open Access Journals (Sweden)

    Ionela MANIU

    2017-12-01

    Full Text Available The aim of this article is to investigate the factors that are influencing student satisfaction in case of neurology related massive open online courses (MOOCs. We analyzed data collected from learners enrolled in 40 neurology related MOOCs, by manually looking for information in these courses reviews. The main identified satisfaction factors can be grouped into the following categories: content related factors: course content, additional materials, assignments, external research and teaching - learning related factors (teacher presentation techniques / style: engaging, clear, coherent, knowledgeable, sharing / explanation, interactive, excitement, considering student’s needs, inspiring, sense of humor. Competences, skills and objectives pursued by neurology related MOOCs are also discussed. Analyzing these factors can be useful in new courses management (design and implementation and also in understanding the needs (motivation, behaviors, perception of 21st century learners interested in neurology related fields.

  1. [Voice disorders caused by neurological diseases].

    Science.gov (United States)

    Gamboa, J; Jiménez-Jiménez, F J; Mate, M A; Cobeta, I

    To review voice disorders in neurological diseases, with special emphasis to acoustic analysis. In the first part of this article we describe data regarding neural control of voice, physiology of phonation, and examination of the patient with voice disturbances, including the use of voice laboratory, acoustic analysis fundamentals, phonetometric measures and aerodynamic measures. In the second part, we review the voice disturbances associated to neurological diseases, emphasizing into movement disorders (specially Parkinson s disease, essential tremor, and spasmodic dysphonia). A number of neurological diseases causing alterations of corticospinal pathway, cerebellum, basal ganglia and upper and/or lower motoneurons can induce voice disturbances. Voice examination using ear, nose & throat examination, endoscopy and videorecording of laryngeal movements, acoustic analysis, elecroglottography, laryngeal electromyography, and aerodynamic measures, could be useful in the clinical examination of some neurological diseases.

  2. Axon guidance proteins in neurological disorders

    NARCIS (Netherlands)

    Van Battum, Eljo Y.; Brignani, Sara; Pasterkamp, R. Jeroen|info:eu-repo/dai/nl/197768814

    2015-01-01

    Many neurological disorders are characterised by structural changes in neuronal connections, ranging from presymptomatic synaptic changes to the loss or rewiring of entire axon bundles. The molecular mechanisms that underlie this perturbed connectivity are poorly understood, but recent studies

  3. Ketogenic diets, mitochondria, and neurological diseases

    National Research Council Canada - National Science Library

    Gano, Lindsey B; Patel, Manisha; Rho, Jong M

    2014-01-01

    The ketogenic diet (KD) is a broad-spectrum therapy for medically intractable epilepsy and is receiving growing attention as a potential treatment for neurological disorders arising in part from bioenergetic dysregulation...

  4. Transient Neurological Symptoms after Spinal Anesthesia

    Directory of Open Access Journals (Sweden)

    Zehra Hatipoglu

    2013-02-01

    Full Text Available Lidocaine has been used for more than 50 years for spinal anesthesia and has a remarkable safety record. In 1993, a new adverse effect, transient neurologic toxicity was described in patients recovering from spinal anesthesia with lidocaine. Transient neurological symptoms have been defined as pain in the lower extremities (buttocks, thighs and legs after an uncomplicated spinal anesthesia and after an initial full recovery during the immediate postoperative period (less than 24 h. The incidence of transient neurological symptoms reported in prospective, randomized trials varies from 4% to 37%. The etiology of transient neurological symptoms remains unkonwn. Despite the transient nature of this syndrome, it has proven to be difficult to treat effectively. Drug or some interventional therapy may be necessary. [Archives Medical Review Journal 2013; 22(1.000: 33-44

  5. Severe hypernatremia: survival without neurologic sequelae

    National Research Council Canada - National Science Library

    Borrego Domínguez, R R; Imaz Roncero, A; López-Herce Cid, J; Seriñá Ramírez, C

    2003-01-01

    .... She had a convulsive crisis without subsequent neurologic impairment. The second patient, a 3-year-old girl with pseudohypoaldosteronism type I and encephalopathy, had hypernatremia (203 mEq/l...

  6. Diabetic cachectic neuropathy: An uncommon neurological ...

    African Journals Online (AJOL)

    access article is distributed under. Creative Commons licence CC-BY-NC 4.0. CASE REPORT. Diabetic cachectic neuropathy: An uncommon neurological complication of diabetes. A Iyagba, MBBS, FWACP, FMCP; A Onwuchekwa, MBBS, FMCP.

  7. Neurological Complications Of Chronic Myeloid Leukaemia: Any ...

    African Journals Online (AJOL)

    , of the neurological deficits complicating chronic myeloid leukaemia. Method: Using patients\\' case folders and haematological malignancy register all cases of chronic myeloid leukaemia seen in Jos University Teaching Hospital between July ...

  8. Dermatology referrals in a neurological set up

    OpenAIRE

    Deeptara Pathak Thapa; Amit Thapa

    2014-01-01

    Introduction: Dermatology is a specialty, which not only deals with dermatological problems with outpatient but also inpatients referrals. The importances of Dermatologist in hospital setting are rising due to changing condition of medical care. Since no peer-reviewed articles are available for dermatological problems in a neurological set up, we conducted this study to know about pattern of skin disorders in neurological patients. Material and Methods: The present study was a prospectiv...

  9. EPIDEMIOLOGY OF HOSPITALIZED PATIENTS IN NEUROLOGY ...

    African Journals Online (AJOL)

    Les principaux diagnostics étaient: un Accident vasculaire cérébral (42,1%), un abcès cérébral (17,9%) et une méningo-encéphalite (ME) dans 11,9%. ... Death risk was in the one hand higher for neurological infectious than for stroke and in the second hand higher for neurological infectious than for all other diseases.

  10. Periodontal disease and preterm birth.

    Science.gov (United States)

    Horton, Amanda L; Boggess, Kim A

    2012-03-01

    Preterm birth (delivery at fewer than 37 weeks’ gestation) is the most common cause of infant morbidity and mortality among nonanomalous infants in the United States. Increasing evidence has focused on associations between clinical infection, inflammation, and preterm birth. Maternal periodontal disease, which is associated with systemic inflammation, has been associated with preterm birth. Intervention trails for treatment of periodontal disease during pregnancy, however have not consistently shown a reduction in preterm birth rates. Despite the lack of reduction in preterm birth, oral health maintenance is an important part of preventive care and should be supported during pregnancy.

  11. Neurological Disorders in Adult Celiac Disease

    Directory of Open Access Journals (Sweden)

    Hugh J Freeman

    2008-01-01

    Full Text Available Celiac disease may initially present as a neurological disorder. Alternatively, celiac disease may be complicated by neurological changes. With impaired nutrient absorption, different deficiency syndromes may occur and these may be manifested clinically with neurological changes. However, in patients with deficiency syndromes, extensive involvement of the small intestine with celiac disease is often evident. There are a number of reports of celiac disease associated with neuropathy, ataxia, dementia and seizure disorder. In these reports, there is no clear relationship with nutrient deficiency and a precise mechanism for the neurological changes has not been defined. A small number of patients have been reported to have responded to vitamin E administration, but most do not. In some, gluten antibodies have also been described, especially in those with ataxia, but a consistent response to a gluten-free diet has not been defined. Screening for celiac disease should be considered in patients with unexplained neurological disorders, including ataxia and dementia. Further studies are needed, however, to determine if a gluten-free diet will lead to improvement in the associated neurological disorder.

  12. EEG in Sarcoidosis Patients Without Neurological Findings.

    Science.gov (United States)

    Bilgin Topçuoğlu, Özgür; Kavas, Murat; Öztaş, Selahattin; Arınç, Sibel; Afşar, Gülgün; Saraç, Sema; Midi, İpek

    2017-01-01

    Sarcoidosis is a multisystem granulomatous disease affecting nervous system in 5% to 10% of patients. Magnetic resonance imaging (MRI) is accepted as the most sensitive method for detecting neurosarcoidosis. However, the most common findings in MRI are the nonspecific white matter lesions, which may be unrelated to sarcoidosis and can occur because of hypertension, diabetes mellitus, smoking, and other inflammatory or infectious disorders, as well. Autopsy studies report more frequent neurological involvement than the ante mortem studies. The aim of this study is to assess electroencephalography (EEG) in sarcoidosis patients without neurological findings in order to display asymptomatic neurological dysfunction. We performed EEG on 30 sarcoidosis patients without diagnosis of neurosarcoidosis or prior neurological comorbidities. Fourteen patients (46.7%) showed intermittant focal and/or generalized slowings while awake and not mentally activated. Seven (50%) of these 14 patients with EEG slowings had nonspecific white matter changes while the other half showed EEG slowings in the absence of MRI changes. We conclude that EEG slowings, when normal variants (psychomotor variant, temporal theta of elderly, frontal theta waves) are eliminated, may be an indicator of dysfunction in brain activity even in the absence of MRI findings. Hence, EEG may contribute toward detecting asymptomatic neurological dysfunction or probable future neurological involvement in sarcoidosis patients. © EEG and Clinical Neuroscience Society (ECNS) 2016.

  13. Neurological manifestations of dengue viral infection

    Directory of Open Access Journals (Sweden)

    Carod-Artal FJ

    2014-10-01

    Full Text Available Francisco Javier Carod-Artal1,21Neurology Department, Raigmore hospital, Inverness, UK; 2Universitat Internacional de Catalunya (UIC, Barcelona, Spain Abstract: Dengue is the most common mosquito-borne viral infection worldwide. There is increased evidence for dengue virus neurotropism, and neurological manifestations could make part of the clinical picture of dengue virus infection in at least 0.5%–7.4% of symptomatic cases. Neurological complications have been classified into dengue virus encephalopathy, dengue virus encephalitis, immune-mediated syndromes (acute disseminated encephalomyelitis, myelitis, Guillain–Barré syndrome, neuritis brachialis, acute cerebellitis, and others, neuromuscular complications (hypokalemic paralysis, transient benign muscle dysfunction and myositis, and dengue-associated stroke. Common neuro-ophthalmic complications are maculopathy and retinal vasculopathy. Pathogenic mechanisms include systemic complications and metabolic disturbances resulting in encephalopathy, direct effect of the virus provoking encephalitis, and postinfectious immune mechanisms causing immune-mediated syndromes. Dengue viruses should be considered as a cause of neurological disorders in endemic regions. Standardized case definitions for specific neurological complications are still needed. Keywords: encephalitis, encephalopathy, dengue fever, neurological complications

  14. Childhood acute bacterial meningitis: risk factors for acute neurological complications and neurological sequelae.

    Science.gov (United States)

    Antoniuk, Sérgio A; Hamdar, Fátima; Ducci, Renata D; Kira, Ariane T F; Cat, Mônica N L; Cruz, Cristina R da

    2011-01-01

    To assess acute neurological complications and neurological sequelae of childhood acute bacterial meningitis in order to determine possible warning signs. This retrospective study evaluated children with acute bacterial meningitis (between 1 month and 14 years of age) admitted between 2003 and 2006. Of the 44 patients studied, 17 (38.6%) had acute neurological complications. Seizure was the most frequent (31.8%) complication. Patients with acute neurological complications showed a higher frequency of lower neutrophil count (p = 0.03), seizure at admission (p 200 mg/dL (p < 0.01), and cerebrospinal fluid glucose concentration/glycemia ratio (p < 0.01) were identified as risk variables for sequelae. Neutrophil count < 60%, seizure at admission, and S. pneumoniae as the etiologic agent were identified as warning signs for acute neurological complications, while protein levels, cerebrospinal fluid glucose concentration/glycemia ratio, and seizure at admission were seen as risk factors for neurological sequelae.

  15. Population red blood cell folate concentrations for prevention of neural tube defects: Bayesian model.

    Science.gov (United States)

    Crider, Krista S; Devine, Owen; Hao, Ling; Dowling, Nicole F; Li, Song; Molloy, Anne M; Li, Zhu; Zhu, Jianghui; Berry, Robert J

    2014-07-29

    To determine an optimal population red blood cell (RBC) folate concentration for the prevention of neural tube birth defects. Bayesian model. Data from two population based studies in China. 247,831 participants in a prospective community intervention project in China (1993-95) to prevent neural tube defects with 400 μg/day folic acid supplementation and 1194 participants in a population based randomized trial (2003-05) to evaluate the effect of folic acid supplementation on blood folate concentration among Chinese women of reproductive age. Folic acid supplementation (400 μg/day). Estimated RBC folate concentration at time of neural tube closure (day 28 of gestation) and risk of neural tube defects. Risk of neural tube defects was high at the lowest estimated RBC folate concentrations (for example, 25.4 (95% uncertainty interval 20.8 to 31.2) neural tube defects per 10,000 births at 500 nmol/L) and decreased as estimated RBC folate concentration increased. Risk of neural tube defects was substantially attenuated at estimated RBC folate concentrations above about 1000 nmol/L (for example, 6 neural tube defects per 10,000 births at 1180 (1050 to 1340) nmol/L). The modeled dose-response relation was consistent with the existing literature. In addition, neural tube defect risk estimates developed using the proposed model and population level RBC information were consistent with the prevalence of neural tube defects in the US population before and after food fortification with folic acid. A threshold for "optimal" population RBC folate concentration for the prevention of neural tube defects could be defined (for example, approximately 1000 nmol/L). Population based RBC folate concentrations, as a biomarker for risk of neural tube defects, can be used to facilitate evaluation of prevention programs as well as to identify subpopulations at elevated risk for a neural tube defect affected pregnancy due to folate insufficiency. © Crider et al 2014.

  16. Second births to teenage mothers: risk factors for low birth weight and preterm birth.

    Science.gov (United States)

    Partington, Susan N; Steber, Dale L; Blair, Kathleen A; Cisler, Ron A

    2009-06-01

    Teenagers are more likely than older women to have a low-birth-weight infant or a preterm birth, and the risks may be particularly high when they have a second birth. Identifying predictors of these outcomes in second teenage births is essential for developing preventive strategies. Birth certificate data for 1993-2002 were linked to identify second births to Milwaukee teenagers. Predictors of having a low-birth-weight second infant or a preterm second birth were identified using logistic regression. The same proportion of first and second infants were low-birth-weight (12%), but second births were more likely than first births to be preterm (15% vs. 12%). In analyses that adjusted for demographic, pregnancy and behavioral characteristics, the odds that a second infant was low-birth-weight or preterm were elevated if the mother smoked during pregnancy (odds ratios, 2.2 and 1.9, respectively), had inadequate prenatal weight gain (1.8 and 1.4), had an interpregnancy interval of less than 18 months (1.6-2.9 and 1.4-2.3) or was black (2.7 and 1.7). Women who had received an adequate level of prenatal care had reduced odds of both outcomes (0.6 and 0.4). Women younger than 16 also had increased odds of having a low-birth-weight second infant. Further adjustment for socioeconomic characteristics yielded largely the same results. In addition, women who were unmarried or did not identify a father were at increased risk of both outcomes (1.5 for each), and poor women were at risk of having a low-birth-weight infant (1.3). Predictors of poor birth outcomes include modifiable behaviors. Prenatal interventions addressing these behaviors could help improve outcomes.

  17. Neurology in a globalizing world: World Congress of Neurology, Vienna, 2013.

    Science.gov (United States)

    Hachinski, Vladimir

    2013-06-11

    The World Congress of Neurology (figure 1) theme "Neurology in a Globalizing World" acknowledges that science and increasingly medicine and neurology are becoming globalized. The best way to manage change is to shape it. It is becoming increasingly clear that brain diseases, particularly stroke and dementia, are projected to rise at a rate that could overwhelm our clinics and hospitals. Hence a new emphasis on prevention and the need to work across disciplines beyond our traditional roles. Neurologists are the guardians of the brain and need to take the lead role in advancing new approaches in stemming the tide of neurologic diseases.

  18. Claude Bernard: bicentenary of birth and his main contributions to neurology

    Directory of Open Access Journals (Sweden)

    Marleide da Mota Gomes

    2014-04-01

    Full Text Available Claude Bernard (1813-1878 followed two main research paths: the chemical and physiological study of digestion and liver function, along with experimental section of nerves and studies on sympathetic nerves. Curare studies were, for example, of longstanding interest. His profound mental creativity and hand skillfulness, besides methodology quality, directed his experiments and findings, mainly at the Collège de France. His broader and epistemological concerns were carried out at the Sorbonne and later at the Muséum national d'Histoire naturelle. His insight gave clues to define the “ milieu intérieur”, later known as “homeostasis”, and grasp the brain complexity. Bernard followed and surpassed his master François Magendie who also fought against dogmas and laid the foundations of experimental medicine, and its main heinous tool – vivisection. Bernard created the methodological bases of experimental medicine, and collected honors as a renowned researcher.

  19. Claude Bernard: bicentenary of birth and his main contributions to neurology.

    Science.gov (United States)

    Gomes, Marleide da Mota; Engelhardt, Eliasz

    2014-04-01

    Claude Bernard (1813-1878) followed two main research paths: the chemical and physiological study of digestion and liver function, along with experimental section of nerves and studies on sympathetic nerves. Curare studies were, for example, of longstanding interest. His profound mental creativity and hand skillfulness, besides methodology quality, directed his experiments and findings, mainly at the Collège de France. His broader and epistemological concerns were carried out at the Sorbonne and later at the Muséum national d'Histoire naturelle. His insight gave clues to define the " milieu intérieur", later known as "homeostasis", and grasp the brain complexity. Bernard followed and surpassed his master François Magendie who also fought against dogmas and laid the foundations of experimental medicine, and its main heinous tool - vivisection. Bernard created the methodological bases of experimental medicine, and collected honors as a renowned researcher.

  20. Status of neurology medical school education

    Science.gov (United States)

    Ali, Imran I.; Isaacson, Richard S.; Safdieh, Joseph E.; Finney, Glen R.; Sowell, Michael K.; Sam, Maria C.; Anderson, Heather S.; Shin, Robert K.; Kraakevik, Jeff A.; Coleman, Mary; Drogan, Oksana

    2014-01-01

    Objective: To survey all US medical school clerkship directors (CDs) in neurology and to compare results from a similar survey in 2005. Methods: A survey was developed by a work group of the American Academy of Neurology Undergraduate Education Subcommittee, and sent to all neurology CDs listed in the American Academy of Neurology database. Comparisons were made to a similar 2005 survey. Results: Survey response rate was 73%. Neurology was required in 93% of responding schools. Duration of clerkships was 4 weeks in 74% and 3 weeks in 11%. Clerkships were taken in the third year in 56%, third or fourth year in 19%, and fourth year in 12%. Clerkship duration in 2012 was slightly shorter than in 2005 (fewer clerkships of ≥4 weeks, p = 0.125), but more clerkships have moved into the third year (fewer neurology clerkships during the fourth year, p = 0.051). Simulation training in lumbar punctures was available at 44% of schools, but only 2% of students attempted lumbar punctures on patients. CDs averaged 20% protected time, but reported that they needed at least 32%. Secretarial full-time equivalent was 0.50 or less in 71% of clerkships. Eighty-five percent of CDs were “very satisfied” or “somewhat satisfied,” but more than half experienced “burnout” and 35% had considered relinquishing their role. Conclusion: Trends in neurology undergraduate education since 2005 include shorter clerkships, migration into the third year, and increasing use of technology. CDs are generally satisfied, but report stressors, including inadequate protected time and departmental support. PMID:25305155

  1. Norwegian Pitched Roof Defects

    Directory of Open Access Journals (Sweden)

    Lars Gullbrekken

    2016-06-01

    Full Text Available The building constructions investigated in this work are pitched wooden roofs with exterior vertical drainpipes and wooden load-bearing system. The aim of this research is to further investigate the building defects of pitched wooden roofs and obtain an overview of typical roof defects. The work involves an analysis of the building defect archive from the research institute SINTEF Building and Infrastructure. The findings from the SINTEF archive show that moisture is a dominant exposure factor, especially in roof constructions. In pitched wooden roofs, more than half of the defects are caused by deficiencies in design, materials, or workmanship, where these deficiencies allow moisture from precipitation or indoor moisture into the structure. Hence, it is important to increase the focus on robust and durable solutions to avoid defects both from exterior and interior moisture sources in pitched wooden roofs. Proper design of interior ventilation and vapour retarders seem to be the main ways to control entry from interior moisture sources into attic and roof spaces.

  2. Ventricular septal defect.

    Science.gov (United States)

    Giboney, G S

    1983-05-01

    This article has discussed the ventricular septal defect, its occurrence, physiology, and therapy, and nursing concerns. The VSD, a communication allowing left-to-right shunting of blood at the ventricular level, is the most common congenital heart defect. Surgical correction is often required for large defects before the age of 12 months, and primary correction is now considered standard procedure. Small defects usually close spontaneously, and moderate defects are closely monitored for signs indicating the need for surgical intervention. Nursing care begins with child and family assessment and evaluation of the strengths and weaknesses of the family system. The child's developmental level is a major consideration in formulating interventions for his benefit. Play therapy is a useful vehicle in relating to the child in a nonthreatening manner preoperatively and in allowing the child to work through his hospitalization postoperatively. Maintaining the physical integrity of a child just out of the operating room is a challenge. Continuing support of the family system is a significant aspect of nursing's responsibility toward child and family. Discharge planning and intervention strive to prepare the family for the transition from hospital to home both physically and emotionally.

  3. [Early prediction of the neurological result at 12 months in newborns at neurological risk].

    Science.gov (United States)

    Herbón, F; Garibotti, G; Moguilevsky, J

    2015-08-01

    The aim of this study was to evaluate the Amiel-Tison neurological examination (AT) and cranial ultrasound at term for predicting the neurological result at 12 months in newborns with neurological risk. The study included 89 newborns with high risk of neurological damage, who were discharged from the Neonatal Intensive Care of the Hospital Zonal Bariloche, Argentina. The assessment consisted of a neurological examination and cranial ultrasound at term, and neurological examination and evaluation of development at 12 months. The sensitivity, specificity, positive and negative predictor value was calculated. The relationship between perinatal factors and neurodevelopment at 12 month of age was also calculated using logistic regression models. Seventy children completed the follow-up. At 12 months of age, 14% had an abnormal neurological examination, and 17% abnormal development. The neurological examination and the cranial ultrasound at term had low sensitivity to predict abnormal neurodevelopment. At 12 months, 93% of newborns with normal AT showed normal neurological results, and 86% normal development. Among newborns with normal cranial ultrasound the percentages were 90 and 81%, respectively. Among children with three or more perinatal risk factors, the frequency of abnormalities in the neurological response was 5.4 times higher than among those with fewer risk factors, and abnormal development was 3.5 times more frequent. The neurological examination and cranial ultrasound at term had low sensitivity but high negative predictive value for the neurodevelopment at 12 months. Three or more perinatal risk factors were associated with neurodevelopment abnormalities at 12 months of age. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  4. Chapter 30: historical aspects of the major neurological vitamin deficiency disorders: the water-soluble B vitamins.

    Science.gov (United States)

    Lanska, Douglas J

    2010-01-01

    status and produced an abrupt decline (20%-27%) in the prevalence of neural tube defects at birth. Recent studies have established genetic predispositions for neural tube defects, including both infant and maternal gene polymorphisms for enzymes involved in folate-dependent homocysteine metabolism, which help explain how the genotype of the mother, the genotype of the unborn child, and environmental factors (e.g. folate intake) can all impact on the risk of neural tube defects. Subacute combined degeneration and B(12) deficiency: Pernicious anemia was recognized clinically in the mid-19th century by Addison, but the most important neurological manifestation - subacute combined degeneration of the spinal cord - was not recognized clinically and linked with pernicious anemia until the end of the 19th century, particularly by Lichtheim, Putnam, and Dana. At the beginning of the 20th century, pernicious anemia and the associated subacute combined degeneration of the spinal cord were considered, by many investigators, to result from infectious or toxic causes. During the first quarter of the 20th century, various therapies were employed, but, with the possible exception of transfusion, were largely ineffective. In the 1920s, Minot and Murphy showed that large quantities of ingested liver could be used to effectively treat pernicious anemia, and specifically could improve or prevent progression of neurological manifestations, and could extend life expectancy beyond 2 years. Beginning in the late 1920s, Castle demonstrated that a substance elaborated by the gastric mucosa ("intrinsic factor") was essential for the absorption of a dietary factor ("extrinsic factor," later shown to be vitamin B(12)) needed to prevent pernicious anemia. Over two decades, from the late 1920s until the late 1940s, increasingly potent liver extracts were manufactured that could be given either intramuscularly or intravenously. In 1947, vitamin B(12) was isolated by Folkers and colleagues, and nearly

  5. Treatment of genetic defects of thiamine transport and metabolism.

    Science.gov (United States)

    Ortigoza-Escobar, Juan Darío; Molero-Luis, Marta; Arias, Angela; Martí-Sánchez, Laura; Rodriguez-Pombo, Pilar; Artuch, Rafael; Pérez-Dueñas, Belén

    2016-07-01

    Thiamine is a key cofactor for energy metabolism in brain tissue. There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes. Neurological involvement predominates in three of them (SLC19A3, SCL25A19 and TPK1), whereas patients with SLC19A2 mutations mainly present extra-neurological features (e.g. diabetes mellitus, megaloblastic anaemia and sensori-neural hearing loss). These genetic defects may be amenable to therapeutic intervention with vitamins supplementation and hence, constitutes a main area of research. We conducted a literature review of all reported cases with these genetic defects, and focused our paper on treatment efficacy and safety, adverse effects, dosing and treatment monitoring. Expert commentary: Doses of thiamine vary according to the genetic defect: for SLC19A2, the usual dose is 25-200 mg/day (1-4 mg/kg per day), for SLC19A3, 10-40 mg/kg per day, and for TPK1, 30 mg/kg per day. Thiamine supplementation in SLC19A3-mutated patients restores CSF and intracellular thiamine levels, resulting in successful clinical benefits. In conclusion, evidence collected so far suggests that the administration of thiamine improves outcome in SLC19A-2, SLC19A3- and TPK1-mutated patients, so most efforts should be aimed at early diagnosis of these disorders.

  6. Standards in Neurological Rehabilitation, June 1997

    Directory of Open Access Journals (Sweden)

    Michael P. Barnes

    1997-01-01

    Full Text Available The European Federation of Neurological Societies (EFNS Scientific Panel on Neurorehabilitation established a Task Force on standards in neurological rehabilitation in June 1996. The remit for the Task Force was to: (1 produce a report on the state of neurological rehabilitation across Europe; and (2 recommend standards for the provision of neurological services for disabled people. The main conclusions of the Task Force were as follows: (1 A questionnaire circulated to each European member country has indicated a significant lack of adequate neurological rehabilitation facilities across Europe. Very few countries have any established network of neurological rehabilitation centres. Few countries have adequately trained neurological rehabilitation physicians, therapists or nurses. Such poor facilities should be seen in the context of the large numbers and increasing prevalence of people with neurological disabilities. (2 The Task Force has summarized the significant benefits that can follow from the establishment of a dedicated and cost effective neurological rehabilitation service including functional improvement, reduction of unnecessary complications, better coordination and use of limited resources, improved opportunities for education, training and research and a clear point of contact for the disabled person. (3 The Task Force recommends minimum standards for the prevention of neurological disability including access to health education, genetic counselling and emergency resources. The Task Force also encourages governments to invest in improved legislation for accident prevention. (4 The Task Force has outlined some minimum standards for the staffing of a neurological rehabilitation service including improved training both for neurologists and rehabilitation physicians. Such training could include a cross-national training programme both for physicians and other health care staff. (5 The Task Force supports a two-tier system of

  7. Birth weight and stuttering: Evidence from three birth cohorts.

    Science.gov (United States)

    McAllister, Jan; Collier, Jacqueline

    2014-03-01

    Previous studies have produced conflicting results with regard to the association between birth weight and developmental stuttering. This study sought to determine whether birth weight was associated with childhood and/or adolescent stuttering in three British birth cohort samples. Logistic regression analyses were carried out on data from the Millenium Cohort Study (MCS), British Cohort Study (BCS70) and National Child Development Study (NCDS), whose initial cohorts comprised over 56,000 individuals. The outcome variables were parent-reported stuttering in childhood or in adolescence; the predictors, based on prior research, were birth weight, sex, multiple birth status, vocabulary score and mother's level of education. Birth weight was analysed both as a categorical variable (low birth weight, stuttering during childhood (age 3, 5 and 7 and MCS, BCS70 and NCDS, respectively) or at age 16, when developmental stuttering is likely to be persistent. None of the multivariate analyses revealed an association between birth weight and parent-reported stuttering. Sex was a significant predictor of stuttering in all the analyses, with males 1.6-3.6 times more likely than females to stutter. Our results suggest that birth weight is not a clinically useful predictor of childhood or persistent stuttering. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. DEFECTS SIMULATION OF ROLLING STRIP

    OpenAIRE

    Rudolf Mišičko; Tibor Kvačkaj; Martin Vlado; Lucia Gulová; Miloslav Lupták; Jana Bidulská

    2009-01-01

    The defects in the continuous casting slabs can be developed or kept down in principle by rolling technology, especially depend to sort, size and distribution of primary defects, as well as used of rolling parameters. Scope of the article is on observation behavior artificial surface and undersurface defects (scores) without filler (surface defects) and filling by oxides and casting powder (subsurface defects). First phase of hot rolling process have been done by software simulation DEFORM 3D...

  9. [Deficiency, disability, neurology and television series].

    Science.gov (United States)

    Collado-Vázquez, Susana; Martínez-Martínez, Ariadna; Cano-de-la-Cuerda, Roberto

    2015-06-01

    The portrayal of neurological disability and deficiency on television has not always been approached in the same way, but has instead tended to reflect the standpoint taken by society with regard to these issues and how they are dealt with according to the prevailing conceptions and values at each particular time. To address the appearance of neurological pathologies in television series and to ponder on the image they have in such contexts. Deficiency and disability of neurological origin have often been depicted on television in series, telefilms and documentaries, and in a wide variety of ways. Here we examine different television series and how they have dealt with neurological pathology, its diagnosis and its treatment, as well as the figure of the healthcare professional and social-familial adaptation. Examples cited include series such as House MD, Glee, American Horror Story, Homeland or Game of Thrones. Television series are a useful tool for making some neurological pathologies better known to the public and for dispelling the myths surrounding others, provided that the pathologies are dealt with in a realistic manner, which is not always the case. More care should be taken with regard to the way in which health professionals are portrayed in television series, as it is not always done correctly and may mislead viewers, who take what they see on the TV as being real.

  10. Intervertebral Disc Characteristic on Progressive Neurological Deficit

    Directory of Open Access Journals (Sweden)

    Farid Yudoyono

    2017-09-01

    Full Text Available Objective: To examine the intervertebral disc characteristic on magnetic resonance imaging (MRI in lumbar herniated disc (LHD patients with progressive neurological deficit. Methods: Patients were collected retrospectively from Dr. Hasan Sadikin General Hospital Database from 2011–2013 with LHD, had neurological deficit such as radiculopathy and cauda equine syndrome for less than four weeks with a positive sign confirmed by neurological examination and confirmatory with MRI examination. Results: A total of 14 patients with lumbar herniated disc disease (10 males, 4 females suffered from progressive neurological deficit with an average age of (52.07±10.9 years old. Early disc height was 9.38±0.5 mm and progressive neurological deficit state disc height was 4.03±0.53 mm, which were significantly different statisticaly (p<0.01. Symptoms of radiculopathy were seen in 11 patients and cauda equine syndrome in three patients. Modic changes grade 1 was found in five patients, grade 2 in eight patients,grade 3 in one patient, Pfirmman grade 2 in eleven patients and grade 3 in three patients. Thecal sac compression 1/3 compression was seen in four patients and 2/3 compression in ten patients. Conclusions: Neurosurgeon should raise concerns on the characteristic changes of intervertebral disc in magnetic resonance imaging examination to avoid further neural injury in lumbar herniated disc patients.

  11. [Neurologic presentation in haemolytic-uraemic syndrome].

    Science.gov (United States)

    Roche-Martínez, A; Póo, P; Maristany-Cucurella, M; Jiménez-Llort, A; Camacho, J A; Campistol, J

    Haemolytic-uraemic syndrome (HUS) is characterized by microangiopathic hemolytic anaemia, thrombopenia and multiorganic aggression, specially renal, gastrointestinal and central nervous system disturbances. Sporadic in Spain (2/1,500,000 inhabitants), its clinical onset includes acute renal failure, hypertension and central nervous system symptoms (irritability, drowsiness, convulsions, cortical blindness, hemiparesia or coma), due to metabolic distress, hypertension or central nervous system microangiopathy. Few long-term outcome studies have been published. A retrospective analysis of a series of 58 patients with HUS between 1981 and 2006, is reported. Clinical onset, laboratory, electrophysiology, neuroimaging tests, and prognosis factors are reviewed, together with long-term clinical outcome. 22 children presented neurologic symptoms, seven had some neurological test; one patient died; in five some neurological sequelae persisted (hemiparesia, cognitive deficit, visual-perception deficit), the other 16 remaining asymptomatic. Neurological morbility is high in HUS (27% of the children with neurological symptoms), with a 1.7% mortality. Seizure at onset was not a poor prognosis factor in our group. No positive correlation can be established between neuroimaging and long-term outcome.

  12. Neurology referrals to a liaison psychiatry service.

    LENUS (Irish Health Repository)

    Fitzgerald, P

    2012-02-03

    The objective of the present study was to assess the activity of the Liaison Psychiatry service of Cork University Hospital in relation to all in-patient neurology referrals over a 12-month period. Of 1685 neurology admissions, 106 (6%) were referred to liaison psychiatry for assessment. 91 referrals (86%) met criteria for a psychiatric disorder according to DSM-IV, the commonest being major depression (24%) and somatoform disorder (23%). Patients with multiple sclerosis or epilepsy comprised nearly half of all referrals (48 cases; 45%). Approximately 20% of M.S. in-patients (21 cases) were referred for psychiatric assessment, with the corresponding figure in epilepsy being 25% (18 cases). Although only 106 (6%) neurology in-patients were referred to liaison psychiatry, psychiatric diagnoses were documented in 327 (20%) discharge forms, presumably reflecting previous diagnosis. The above findings indicate that psychiatric illness is common among neurology inpatients screened by liaison psychiatry yet referral rates are relatively low in terms of the overall number of neurology in-patients. Psychiatric disorders were diagnosed in 86% of referrals indicating high concordance between neurologists and liaison psychiatry regarding the presence of a psychiatric disorder.

  13. [Neurologic involvement in juvenile rheumatoid arthritis].

    Science.gov (United States)

    Carbajal-Rodríguez, L; Perea-Martínez, A; Loredo-Abdalá, A; Rodríguez-Herrera, R; del Angel-Aguilar, A; Reynes-Manzur, J N

    1991-07-01

    The neurologic complication seen in children with juvenile rheumatoid arthritis (JRA) has hardly been studied for which therefore its prevalence is unknown. Some of the clinical manifestations surrounding this event have been studied and have been divided into the following two groups: cervical articular spinal disease and extra-articular manifestations, more commonly seen in adults, the atlas-axoidal subluxation and the neuropathies. A group of 213 children diagnosed as having JRA according to the criteria setforth by the American Association of Rheumatology and followed by the Department of Internal Medicine of the National Institute of Pediatrics, 10 patients were found to have neurologic symptomatology (4.6%). Their arthritis was studied as well as their association with activity data and seropositivity. We found 6 female and 4 male patients with neurologic manifestations; their ages ranged from 7 to 14 years. Six of them were diagnosed with sero-positive polyarticular JRA and the other four with polyarticular sero-negative. All patients showed some activity and the appearance of the neurologic complications ranged between two months and seven years. No correlation was found between the beginning of the arthritis and the neurologic symptomatology, their sex or the type of arthritis. Seven of the cases showed peripheral neuropathy. Two cases had atlas-atloid subluxation and another child showed having cervical column inflammation with a rheumatoid pannus.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. Neurological Manifestations of Medical Child Abuse.

    Science.gov (United States)

    Doughty, Katharine; Rood, Corey; Patel, Anup; Thackeray, Jonathan D; Brink, Farah W

    2016-01-01

    Medical child abuse occurs when a child receives unnecessary and harmful, or potentially harmful, medical care at the instigation of a caretaker through exaggeration, falsification, or induction of symptoms of illness in a child. Neurological manifestations are common with this type of maltreatment. We sought to review common reported neurological manifestations that may alert the clinician to consider medical child abuse. In addition, the possible sequelae of this form of child maltreatment is discussed, as well as practice recommendations for establishing the diagnosis and stopping the abuse once it is identified. A review of the medical literature was conducted regarding the reported neurological presentations of this entity. Neurological manifestations of medical child abuse include false reports of apparent life-threatening events and seizures and reports of induction of symptoms from poisoning. Failure to correlate objective findings with subjective complaints may lead to unnecessary and potentially harmful testing or treatment. This form of child maltreatment puts a child at significant risk of long-term morbidity and mortality. A wide variety of neurological manifestations have been reported in cases of medical child abuse. It is important for the practicing neurologist to include medical child abuse on the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Neurological complications in chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Ria Arnold

    2016-10-01

    Full Text Available Patients with chronic kidney disease (CKD are frequently afflicted with neurological complications. These complications can potentially affect both the central and peripheral nervous systems. Common neurological complications in CKD include stroke, cognitive dysfunction, encephalopathy, peripheral and autonomic neuropathies. These conditions have significant impact not only on patient morbidity but also on mortality risk through a variety of mechanisms. Understanding the pathophysiological mechanisms of these conditions can provide insights into effective management strategies for neurological complications. This review describes clinical management of neurological complications in CKD with reference to the contributing physiological and pathological derangements. Stroke, cognitive dysfunction and dementia share several pathological mechanisms that may contribute to vascular impairment and neurodegeneration. Cognitive dysfunction and dementia may be differentiated from encephalopathy which has similar contributing factors but presents in an acute and rapidly progressive manner and may be accompanied by tremor and asterixis. Recent evidence suggests that dietary potassium restriction may be a useful preventative measure for peripheral neuropathy. Management of painful neuropathic symptoms can be achieved by pharmacological means with careful dosing and side effect considerations for reduced renal function. Patients with autonomic neuropathy may respond to sildenafil for impotence. Neurological complications often become clinically apparent at end-stage disease, however early detection and management of these conditions in mild CKD may reduce their impact at later stages.

  16. Dengue: a new challenge for neurology

    Directory of Open Access Journals (Sweden)

    Marzia Puccioni-Sohler

    2012-11-01

    Full Text Available Dengue infection is a leading cause of illness and death in tropical and subtropical regions of the world. Forty percent of the world’s population currently lives in these areas. The clinical picture resulting from dengue infection can range from relatively minor to catastrophic hemorrhagic fever. Recently, reports have increased of neurological manifestations. Neuropathogenesis seems to be related to direct nervous system viral invasion, autoimmune reaction, metabolic and hemorrhagic disturbance. Neurological manifestations include encephalitis, encephalopathy, meningitis, Guillain-Barré syndrome, myelitis, acute disseminated encephalomyelitis, polyneuropathy, mononeuropathy, and cerebromeningeal hemorrhage. The development of neurological symptoms in patients with positive Immunoglobulin M (IgM dengue serology suggests a means of diagnosing the neurological complications associated with dengue. Viral antigens, specific IgM antibodies, and the intrathecal synthesis of dengue antibodies have been successfully detected in cerebrospinal fluid. However, despite diagnostic advancements, the treatment of neurological dengue is problematic. The launch of a dengue vaccine is expected to be beneficial.

  17. Problem neurology residents: a national survey.

    Science.gov (United States)

    Tabby, David S; Majeed, Muhammed H; Schwartzman, Robert J

    2011-06-14

    Problem residents are found across most medical specialties at a prevalence of about 10%. This study was designed to explore the prevalence and causes of problem neurology residents and to compare neurology programs' responses and outcomes. Directors of 126 US neurology residency programs were sent an electronic survey. We collected data on demographics, first and all "identifiers" of problem residents, and year of training in which the problem was found. We asked about observable signs, etiology, and who performed remediation. We asked what resources were used and what outcomes occurred. Ninety-five program directors completed surveys (75% response rate). Almost all neurology programs have problem residents (81%). Age, sex, marital status, being a US native, or attending a US medical school had no effect on problem status. Being a parent carried a lower likelihood of problems (32%). Most commonly the problem is acted on during the first year of training. Faculty members without defined educational roles were the most frequent first identifiers. Program directors were the most common remediators. The most common remediation techniques were increasing supervision and assigning a faculty mentor. Graduate medical education office and psychiatric or psychological counseling services were most often used. Eleven percent of problem residents required a program for impaired physicians and 14% required a leave of absence. Sixteen percent were dismissed from their programs. The prevalence of problem residents in neurology is similar to other disciplines, and various resources are available to remediate them.

  18. The Birth of Matter

    CERN Multimedia

    2005-01-01

    To mark the World Year of Physics, the Physics Section of the University of Geneva is organising a series of lectures for the uninitiated. Each lecture will begin with a demonstration in the auditorium of the detection of cosmic rays and, in collaboration with Professor E. Ellberger of the Conservatoire de Musique de Genève, of how these signals from the farthest reaches of the Universe can be used to create "cosmic music". The fourth lecture in the series, entitled "The Birth of Matter", will take place on Tuesday 3 May 2005 and will be given by CERN's theoretical physicist, John Ellis. Where does matter come from? Where do the structures that surround us, such as galaxies, come from? Are we living in a world of invisible matter? Why is the universe so old and so big? John Ellis will show how elementary particle physics and, in particular, the LHC under construction at CERN, can answer these questions. The Birth of Matter Professor John Ellis Tuesday 3 May, starting 8.00 p.m. Main Audito...

  19. The Birth of Matter

    CERN Multimedia

    2005-01-01

    To mark the World Year of Physics, the Physics Section of the University of Geneva is organising a series of lectures for the uninitiated. Each lecture will begin with a demonstration in the auditorium of the detection of cosmic rays and, in collaboration with Professor E. Ellberger of the Conservatoire de Musique de Genève, of how these signals from the farthest reaches of the Universe can be used to create 'cosmic music'. The fourth lecture in the series, entitled 'The Birth of Matter', will take place on Tuesday 3 May 2005 and will be given by CERN's theoretical physicist, John Ellis. Where does matter come from? Where do the structures that surround us, such as galaxies, come from? Are we living in a world of invisible matter? Why is the universe so old and so big? John Ellis will show how elementary particle physics and, in particular, the LHC under construction at CERN, can answer these questions. The Birth of Matter Professor John Ellis Tuesday 3 May, starting 8.00 p.m. Main Auditorium...

  20. Preterm birth and dyscalculia.

    Science.gov (United States)

    Jaekel, Julia; Wolke, Dieter

    2014-06-01

    To evaluate whether the risk for dyscalculia in preterm children increases the lower the gestational age (GA) and whether small-for-gestational age birth is associated with dyscalculia. A total of 922 children ranging from 23 to 41 weeks' GA were studied as part of a prospective geographically defined longitudinal investigation of neonatal at-risk children in South Germany. At 8 years of age, children's cognitive and mathematic abilities were measured with the Kaufman Assessment Battery for Children and with a standardized mathematics test. Dyscalculia diagnoses were evaluated with discrepancy-based residuals of a linear regression predicting children's math scores by IQ and with fixed cut-off scores. We investigated each GA group's ORs for general cognitive impairment, general mathematic impairment, and dyscalculia by using binary logistic regressions. The risk for general cognitive and mathematic impairment increased with lower GA. In contrast, preterm children were not at increased risk of dyscalculia after statistically adjusting for child sex, family socioeconomic status, and small-for-gestational age birth. The risk of general cognitive and mathematic impairments increases with lower GA but preterm children are not at increased risk of dyscalculia. Copyright © 2014 Elsevier Inc. All rights reserved.