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Sample records for human congenital anomalies

  1. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  2. Development and Congenital Anomalies of the Pancreas

    Directory of Open Access Journals (Sweden)

    Hiroyuki Tadokoro

    2011-01-01

    Full Text Available Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryogenesis. There are many theories in the etiology of congenital anomalies of the pancreas. We review pancreas development in humans and other vertebrates. In addition, we attempt to clarify how developmental failure is related to congenital pancreatic anomalies.

  3. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing

  4. Endocrine disruptors and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Mônica Rittler

    2002-04-01

    Full Text Available The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identified yet, the observed sex ratio decline during the last decades has been considered to be an effect of certain pollutants on normal hormone activity, and human reproductive development. Reported increasing trends in the frequencies of hypospadias and cryptorchidism are very difficult to be interpreted due to the large variability in the registered frequency of these malformations due to operational as well as biological reasons.

  5. Monitoring for new multiple congenital anomalies in the search for human teratogens.

    Science.gov (United States)

    Khoury, M J; Botto, L; Waters, G D; Mastroiacovo, P; Castilla, E; Erickson, J D

    1993-06-01

    The ability of birth defects monitoring to detect new human teratogenic and mutagenic agents may be limited if only isolated defects are monitored. Surveillance for "new" multiple congenital anomalies (MCA) may improve the detection of environmental agents associated with new defect patterns. To evaluate the feasibility of such monitoring, we examined data from two programs: 1) the Metropolitan Atlanta Congenital Defects Program (MACDP), which ascertains infants with serious defects diagnosed in the first year of life, and, 2) the Italian Multicenter Register for Congenital Malformations (IPIMC), which ascertains newborn infants with birth defects from many hospitals in Italy. We focused on 24 relatively serious defects and defect groups. For a baseline period (MACDP: 1968-1988, 581,000 births; IPIMC: 1986-1989, 448,000 births), we identified all possible combinations of defects occurring in the same baby. For a test period (MACDP: 1989-1990, 77,000 births; IPIMC: 1990, 91,500 births), we identified babies with "new" MCA (i.e., combinations of defects not observed before in the system). During this period in MACDP, of the 85 babies with two or more defects, 9 babies had new MCAs. In IPIMC, of the 54 babies with two or more defects, 10 babies had new MCAs. A review of the records of infants with new MCAs in MACDP and IPIMC did not identify commonalities in maternal characteristics. This analysis illustrates the feasibility of monitoring for new MCAs in surveillance systems. This approach, complemented by an evaluation of exposures, may be a powerful additional tool in searching for human teratogens and mutagens.

  6. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H|info:eu-repo/dai/nl/23639195X; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin|info:eu-repo/dai/nl/183050487; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron|info:eu-repo/dai/nl/117339067; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P|info:eu-repo/dai/nl/304076953; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

    2017-01-01

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing re

  7. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L.; Alkuraya, Fowzan S.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M. H. F.; Brilstra, Eva H.; Brown, Chester W.; Bruggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezso; Deardorff, Matthew A.; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B. A.; Earl, Dawn L.; Ferguson, Heather L.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Gripp, Karen W.; Gropman, Andrea L.; Hanson-Kahn, Andrea; Harris, David J.; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Innes, A. Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Liao, Eric C.; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W.; Mendoza, Cinthya J. Zepeda; Menten, Bjorn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Moya, Graciela; Nieuwint, Aggie W.; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Pina Aguilar, Raul E.; Poddighe, Pino J.; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L. P.; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M. L.; Warburton, Dorothy P.; Waterman, Matthew J.; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E.

    2017-01-01

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing re

  8. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

    2016-01-01

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing re

  9. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  10. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

    2014-01-01

    congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant......INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  11. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48...... of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital...

  12. Congenital anomalies surveillance in Canada.

    Science.gov (United States)

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  13. Insulin analogues in pregnancy and specific congenital anomalies

    DEFF Research Database (Denmark)

    de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa

    2016-01-01

    in the congenital anomaly rate among foetuses exposed to insulin analogues (lispro, aspart, glargine or detemir) compared with those exposed to human insulin or Neutral Protamine Hagedorn insulin. The total prevalence of congenital anomalies was not increased for foetuses exposed to insulin analogues. The small...... included 1286 foetuses of mothers using short-acting insulin analogues with 1089 references of mothers using human insulin and 768 foetuses of mothers using long-acting insulin analogues with 685 references of mothers using long-acting human insulin (Neutral Protamine Hagedorn). The congenital anomaly rate...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....

  14. Development and Congenital Anomalies of the Pancreas

    OpenAIRE

    Hiroyuki Tadokoro; Masaru Takase; Bunsei Nobukawa

    2011-01-01

    Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryo...

  15. The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

    Science.gov (United States)

    Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L.; Alkuraya, Fowzan S.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M.H.F.; Brilstra, Eva H.; Brown, Chester W.; Brüggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezso; Deardorff, Matthew A.; Dheedene, Annelies; D’Hooghe, Marc; de Vries, Bert B.A.; Earl, Dawn L.; Ferguson, Heather L.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Gripp, Karen W.; Gropman, Andrea L.; Hanson-Kahn, Andrea; Harris, David J.; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Innes, A. Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Liao, Eric C.; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W.; Zepeda Mendoza, Cinthya J.; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Moya, Graciela; Nieuwint, Aggie W.; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Piña Aguilar, Raul E.; Poddighe, Pino J.; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L.P.; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M.L.; Warburton, Dorothy P.; Waterman, Matthew J.; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E.

    2017-01-01

    Despite their clinical significance, characterization of balanced chromosomal abnormalities (BCAs) has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and revealed complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. This study proposes that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements, and provides insight into novel pathogenic mechanisms such as altered regulation due to changes in chromosome topology. PMID:27841880

  16. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude;

    2014-01-01

    with influenza. RESULTS: We detected statistically significant seasonality in prevalence of anomalies previously associated with influenza, but the conception peak was in June (2.4% excess). We also detected seasonality in congenital cataract (April conceptions, 27%), hip dislocation and/or dysplasia (April, 12......%), congenital hydronephrosis (July, 12%), urinary defects (July, 5%), and situs inversus (December, 36%), but not for nonchromosomal anomalies combined, chromosomal anomalies combined, or other anomalies analyzed. CONCLUSION: We have confirmed previously described seasonality for congenital cataract and hip......BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation...

  17. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie;

    2014-01-01

    : diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

  18. Congenital microgastria and hypoplastic upper limb anomalies.

    Science.gov (United States)

    Lueder, G T; Fitz-James, A; Dowton, S B

    1989-03-01

    Six cases of congenital microgastria associated with limb anomalies are reviewed. The microgastria-hypoplastic upper limb association may arise as a result of aberrant mesodermal development in the 5th embryonic week.

  19. Occupational chemical exposures and congenital anomalies: state of the art

    Energy Technology Data Exchange (ETDEWEB)

    Cordier, S. (Centre de Lutte Contre le Cancer Gustave-Roussy, 94 - Villejuif (France)); Goujard, J. (Maternite Baudelocque, 75 - Paris (France))

    1994-01-01

    Several thousands of compounds with a potential reproductive toxicity have been identified in animals, some of them are teratogens. In humans, only a small number of chemicals, administered as drugs, present in the diet, or in the occupational environment are recognized human teratogens. In parallel, about 60% of congenital anomalies have no identified cause and most probably some compounds present in the environment may contribute to certain anomalies. This paper presents a review of published epidemiological studies on the association between occupational exposures and congenital anomalies, focusing more particularly on some groups of compounds or some occupations such as: anaesthetic gases, laboratory work, solvents, pesticides and lead. (authors).

  20. Human syndromes with congenital patellar anomalies and the underlying gene defects.

    NARCIS (Netherlands)

    Bongers, E.M.H.F.; Kampen, A. van; Bokhoven, J.H.L.M. van; Knoers, N.V.A.M.

    2005-01-01

    Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso-ventral patterning, cartilage and

  1. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  2. Seasonality of Congenital Anomalies in Europe

    NARCIS (Netherlands)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Mullaney, Carmel; Queisser-Luft, Annette; Rankin, Judith; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Yevtushok, Lyubov

    2014-01-01

    BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to

  3. Congenital spine anomalies: the closed spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, Erin Simon [University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Perelman School of Medicine, Philadelphia, PA (United States); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Radiology, Genoa (Italy)

    2015-09-15

    The term congenital spinal anomalies encompasses a wide variety of dysmorphology that occurs during early development. Familiarity with current terminology and a practical, clinico-radiologic classification system allows the radiologist to have a more complete understanding of malformations of the spine and improves accuracy of diagnosis when these entities are encountered in practice. (orig.)

  4. Seasonality of Congenital Anomalies in Europe

    NARCIS (Netherlands)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Mullaney, Carmel; Queisser-Luft, Annette; Rankin, Judith; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Yevtushok, Lyubov

    BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to

  5. Drug safety in pregnancy - monitoring congenital anomalies

    NARCIS (Netherlands)

    Morgan, Margery; De Jong-Van Den Berg, Lolkje T. W.; Jordan, Sue

    Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored

  6. Drug safety in pregnancy - monitoring congenital anomalies

    NARCIS (Netherlands)

    Morgan, Margery; De Jong-Van Den Berg, Lolkje T. W.; Jordan, Sue

    2011-01-01

    Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored t

  7. Congenital cardiac anomalies in an English bulldog.

    Science.gov (United States)

    McConkey, Marina J

    2011-11-01

    A 4-year-old male castrated English bulldog was referred to the Atlantic Veterinary College for evaluation of exercise intolerance, multiple syncopal episodes, and a grade IV/VI heart murmur. The dog was shown to have 3 congenital cardiac anomalies: atrial septal defect, mitral valve dysplasia, and subaortic stenosis. Medical management consisted of exercise restriction, atenolol, pimobendan, and taurine.

  8. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    NARCIS (Netherlands)

    Garne, Ester; Loane, Maria; Dolk, Helen; Barisic, Ingeborg; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Gatt, Miriam; Melve, Kari Klyungsoyr; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellun-Dumoulin, Christine; Wiesel, Awi

    2012-01-01

    BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHOD

  9. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen;

    2012-01-01

    Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

  10. Radiological evaluation congenital gastrointestinal tract anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Young Hee; Kim, Ock [Hanil Hospital, Seoul (Korea, Republic of); Jang, Jung Wha [Seoul Nationl Hospital, Seoul (Korea, Republic of)

    1983-06-15

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric

  11. Congenital anomalies and proximity to landfill sites.

    LENUS (Irish Health Repository)

    Boyle, E

    2004-01-01

    The occurrence of congenital anomalies in proximity to municipal landfill sites in the Eastern Region (counties Dublin, Kildare, Wicklow) was examined by small area (district electoral division), distance and clustering tendancies in relation to 83 landfills, five of which were major sites. The study included 2136 cases of congenital anomaly, 37,487 births and 1423 controls between 1986 and 1990. For the more populous areas of the region 50% of the population lived within 2-3 km of a landfill and within 4-5 km for more rural areas. In the area-level analysis, the standardised prevalence ratios, empirical and full Bayesian modelling, and Kulldorff\\'s spatial scan statistic found no association between the residential area of cases and location of landfills. In the case control analysis, the mean distance of cases and controls from the nearest landfill was similar. The odds ratios of cases compared to controls for increasing distances from all landfills and major landfills showed no significant difference from the baseline value of 1. The kernel and K methods showed no tendency of cases to cluster in relationship to landfills. In conclusion, congenital anomalies were not found to occur more commonly in proximity to municipal landfills.

  12. Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

    Science.gov (United States)

    Shaheen, Ranad; Anazi, Shams; Ben-Omran, Tawfeg; Seidahmed, Mohammed Zain; Caddle, L. Brianna; Palmer, Kristina; Ali, Rehab; Alshidi, Tarfa; Hagos, Samya; Goodwin, Leslie; Hashem, Mais; Wakil, Salma M.; Abouelhoda, Mohamed; Colak, Dilek; Murray, Stephen A.; Alkuraya, Fowzan S.

    2016-01-01

    Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of transcripts as well. Despite the critical role of NMD at the cellular level, our knowledge about the consequences of deficiency of its components at the organismal level is largely limited to model organisms. In this study, we report two consanguineous families in which a similar pattern of congenital anomalies was found to be most likely caused by homozygous loss-of-function mutations in SMG9, encoding an essential component of the SURF complex that generates phospho-UPF1, the single most important step in NMD. By knocking out Smg9 in mice via CRISPR/Cas9, we were able to recapitulate the major features of the SMG9-related multiple congenital anomaly syndrome we observed in humans. Surprisingly, human cells devoid of SMG9 do not appear to have reduction of PTC-containing transcripts but do display global transcriptional dysregulation. We conclude that SMG9 is required for normal human and murine development, most likely through a transcriptional regulatory role, the precise nature of which remains to be determined. PMID:27018474

  13. Ectopia cordis: a rare congenital anomaly.

    Science.gov (United States)

    Gabriel, Abigail; Donnelly, Joseph; Kuc, Alexander; Good, Daniel; Doros, Gabriela; Matusz, Petru; Loukas, Marios

    2014-11-01

    Ectopia cordis (EC) is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. The ectopic heart can be found along a spectrum of anatomical locations, including the cervical, thoracic and abdominal regions and in most cases, it protrudes outside the chest through a split sternum. Although the first case of EC was identified during the early 1600s only 91 cases have been reported since then in the literature. This review will discuss the history and prevalence of EC, its etiology, morphology, presentation and symptoms, complications, diagnosis, treatment and management and prognosis.

  14. [Congenital anomalies of the central nervous system in autopsy specimens].

    Science.gov (United States)

    Sobaniec-Lotowska, M; Ostapiuk, H; Sulkowski, S; Sobaniec, W; Sulik, M; Famulski, W

    1989-02-01

    On the basis of an analysis of 2398 autopsies of infants aged up to 1 year in 194 cases congenital anomalies of the central nervous system were found (8.1%). Most cases of these anomalies were noted in the group of newborns (85%) and the most frequent anomalies were: myelomeningocele (35.6%), multiple anomalies (20.1%), congenital hydrocephalus (17%), anencephaly (14.4%) and corpus callosum malformations (3.6%). Myelomeningocele, congenital hydrocephalus, anencephaly and true microcephaly were more frequent in girls, while multiple anomalies and corpus callosum malformations were more frequent in boys.

  15. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  16. EUROCAT website data on prenatal detection rates of congenital anomalies

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Loane, Maria

    2010-01-01

    The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can...

  17. Medical imaging for congenital anomalies of the lung. Focused on tracheobronchial and parenchymal anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Kohda, Ehiichi; Shiraga, Nobuyuki; Higuchi, Mutsumi; Ishibashi, Ryouchi [Tachikawa Hospital, Tokyo (Japan)

    2003-02-01

    This is a review of medical imaging studies for congenital anomalies of the lung focused on tracheobronchial and parenchymal anomalies. It is important to know the findings of these developmental anomalies, because they are frequently manifested as infectious diseases or mass. Documented details are pulmonary agenesis, aplasia, pulmonary hypoplasia, tracheal agenesis, bridging bronchus, tracheal bronchus, congenital tracheal stenosis, bronchial atresia, bronchobiliary fistula, bronchogenic cyst, bronchopulmonary sequestration, congenital cystic adenomatoid malformation, and pulmonary lymphangiectasia. (author)

  18. Fetal extracardiac anomalies associated with congenital cardiac diseases

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Bum Ha; Cho, Jung Yeon; Lee, Young Ho; Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2004-06-15

    To evaluate the incidence of associated extracardiac anomalies in fetuses with congenital heart defects on fetal echocardiography, and to estimate the incidence of chromosomal abnormalities according to the extracardiac anomalies. From Jan. 1999 to Dec. 2001, 101 fetuses with prenatally diagnosed extracardiac anomalies and congenital cardiac diseases were selected for study. The mean gestational age at the time of the ultrasound exam was about 25 weeks. Associated extracardiac anomalies were classified into CNS, face and neck, thorax, abdomen, genitourinary system, musculoskeletal, other and multi-systemic anomalies groups. Chromosomal studies including chorionic villi sampling, amniocentesis, cordocentesis, and postnatal exam were correlated. Musculoskeletal anomalies were the most commonly associated extracardiac anomalies (n=28, 27.7%). Abdominal anomaly (n=26, 25.7%), central nervous system anomaly (n=25, 24.8%), genitourinary anomaly(n=12, 11.9%), thoracic anomaly (n=4, 4%), face and neck anomaly (n=3, 3%) were found. Twenty eight fetuses showed other anomalies (n=28, 27.7%). Multi-systemic anomalies were also common (n=20, 19.8%). Fetal anomalies involving two systems were noted in 15 fetuses, and anomalies of more than three systems were not uncommon (5 fetuses). Chromosomal study of 38 fetuses revealed 19 fetuses with abnormal karyotypes (50%). For 19 fetuses with abnormal karyotypes, central nervous system anomalies and musculoskeletal anomalies were the most frequently associated with extracardiac abnormalities (n=9). Multi-systemic anomalies were associated in 9 of the 19 fetuses. In fetuses with cardiac defects, the musculoskeletal, abdomen and CNS anomalies were commonly associated with extracardiac anomalies. Various extracardiac anomalies such as, head and neck anomalies, CNS anomalies, musculoskeletal anomalies, and multi-organ anomalies were highly correlated with chromosomal abnormalities, and so this relationship requires chromosomal study.

  19. Insulin analogues in pregnancy and specific congenital anomalies: a literature review.

    Science.gov (United States)

    de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa; Morgan, Margery; de Jong-van den Berg, Lolkje T W; Wang, Hao

    2016-05-01

    Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we included 1286 foetuses of mothers using short-acting insulin analogues with 1089 references of mothers using human insulin and 768 foetuses of mothers using long-acting insulin analogues with 685 references of mothers using long-acting human insulin (Neutral Protamine Hagedorn). The congenital anomaly rate was 4.84% and 4.29% among the foetuses of mothers using lispro and aspart. For glargine and detemir, the congenital anomaly rate was 2.86% and 3.47%, respectively. No studies on the use of insulin glulisine and degludec in pregnancy were found. There was no statistically significant difference in the congenital anomaly rate among foetuses exposed to insulin analogues (lispro, aspart, glargine or detemir) compared with those exposed to human insulin or Neutral Protamine Hagedorn insulin. The total prevalence of congenital anomalies was not increased for foetuses exposed to insulin analogues. The small samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies.

  20. Radiologic imaging of congenital gastrointestinal anomalies in infants

    Directory of Open Access Journals (Sweden)

    Leny Zabidi

    2014-11-01

    Full Text Available Background Congenital gastrointestinal anomalies may manifest signs or symptoms in the first few days of life, most commonly in the form of obstructions. Radiologic imaging plays an important role in diagnosis confirmation and surgical correction plans. Most cases may be diagnosed by plain radiographs alone, but CT scans and MRI may be needed to make accurate diagnoses, especially in difficult cases. Objective To report radiologic imaging findings in infants with congenital gastrointestinal anomalies. Methods For this retrospective, cross-sectional study we took secondary data from medical records of infants with congenital gastrointestinal anomalies in Dr. Kariadi Hospital, Semarang, Indonesia from January 2010 – June 2011. Diagnosis of congenital anomalies was confirmed by clinical manifestation and radiologic imaging. Radiologic findings were reviewed by a single radiologist on duty at that time. Data is presented in the form of frequency distribution. Results Subjects consisted of 50 males and 23 females. The most common complaints were vomiting in 14 subjects (19%, abdominal distension in 31 subjects (43%, and fecal passage dysfunction in 28 subjects (38%. Radiologic imaging of subjects with congenital gastrointestinal anomalies revealed the following conditions: anal atresia in 28 subjects (38%, congenital megacolon in 21 subjects (29%, esophageal atresia in 14 subjects (19%, duodenal atresia in 9 subjects (12%, and pyloric atresia in 1 subject (2%. Conclusion Using radiologic imaging of infants with congenital gastrointestinal anomalies, the most to least common conditions found were anal atresia, congenital megacolon, esophageal atresia, duodenal atresia, and pyloric atresia.

  1. Multiple congenital ocular anomalies in Icelandic horses

    Directory of Open Access Journals (Sweden)

    Lindgren Gabriella

    2011-05-01

    Full Text Available Abstract Background Multiple congenital ocular anomalies (MCOA syndrome is a hereditary congenital eye defect that was first described in Silver colored Rocky Mountain horses. The mutation causing this disease is located within a defined chromosomal interval, which also contains the gene and mutation that is associated with the Silver coat color (PMEL17, exon 11. Horses that are homozygous for the disease-causing allele have multiple defects (MCOA-phenotype, whilst the heterozygous horses predominantly have cysts of the iris, ciliary body or retina (Cyst-phenotype. It has been argued that these ocular defects are caused by a recent mutation that is restricted to horses that are related to the Rocky Mountain Horse breed. For that reason we have examined another horse breed, the Icelandic horse, which is historically quite divergent from Rocky Mountain horses. Results We examined 24 Icelandic horses and established that the MCOA syndrome is present in this breed. Four of these horses were categorised as having the MCOA-phenotype and were genotyped as being homozygous for the PMEL17 mutation. The most common clinical signs included megaloglobus, iris stromal hypoplasia, abnormal pectinate ligaments, iridociliary cysts occasionally extending into the peripheral retina and cataracts. The cysts and pectinate ligament abnormalities were observed in the temporal quadrant of the eyes. Fourteen horses were heterozygous for the PMEL17 mutation and were characterized as having the Cyst-phenotype with cysts and occasionally curvilinear streaks in the peripheral retina. Three additional horses were genotyped as PMEL17 heterozygotes, but in these horses we were unable to detect cysts or other forms of anomalies. One eye of a severely vision-impaired 18 month-old stallion, homozygous for the PMEL17 mutation was examined by light microscopy. Redundant duplication of non-pigmented ciliary body epithelium, sometimes forming cysts bulging into the posterior chamber

  2. Congenital anomalies in paediatric surgery in North India

    Directory of Open Access Journals (Sweden)

    Babita Jangra

    2014-01-01

    Full Text Available Background: Congenitalmal formation represents defects in morphogenesis during early foetal life. Congenital anomalies account for 8-15% of perinatal deaths and 13-16% of neonatal deaths in India. The proportion of perinatal deaths due to congenital malformations is increasing as a result of reduction of mortality due to other causes owing to the improvement in perinatal and neonatal care. Materials and Methods: A retrospective record based study was conducted in the Paediatric Surgery Department of a Tertiary Care Institute of North India. The records of over a decade (2003-2012 were analysed. A total of 4305 cases of congenital anomalies were recorded in the study. All the data were entered in the excel spread sheet and analysed in SPSS version 17. (Statistical Package for the Social Sciences, a software package used for statistical analysis, officially named "IBM SPSS Statistics". Results: Over the decade, a total of 14264 children were admitted in the paediatric surgery department with various problems. Out of these about one-third children (30.18% had one or other type of congenital anomalies. This trend remained almost constant over the decade within a range of 26.8-33.6%. About half of the total congenital anomalies belonged to the gastro-intestinal tract, followed by genitourinary tract, central nervous system and other anomalies. All the anomalies were more common in males and were found in children belonging to rural communities. Conclusions: All the neonates should be examined with scrutiny for overt as well as occult congenital anomalies and Paediatric surgical care should be considered as an essential component of child health programmes in developing populations. Moreover, it is necessary to establish a registry system for congenital anomalies.

  3. Congenital pouch colon: Increasing association with low anorectal anomalies

    Directory of Open Access Journals (Sweden)

    Pavai Arunachalam

    2009-01-01

    Full Text Available Three cases of type IV congenital pouch colon associated with low anorectal anomaly are reported here. Pouch colon may be a cause of intractable constipation in children operated for low anorectal anomaly. Excellent results can be obtained by exicision of the pouch. The radiological and pathological features of this condition are discussed.

  4. Sacral rib: an uncommon congenital anomaly.

    Science.gov (United States)

    Miyakoshi, Naohisa; Kobayashi, Akira; Hongo, Michio; Shimada, Yoichi

    2015-06-01

    Sacral rib represents an uncommon pathology in which rib-like structures arise from the sacrum. Supernumerary ribs may occur at any level of the spine, but supernumerary ribs in the sacrococcygeal area are extremely rare. To present the case of a patient with sacral rib and to discuss this entity with reference to the literature. A case report and literature review. A 17-year-old girl presented with low back pain and discomfort in bilateral gluteal regions. Radiographs and computed tomography (CT) of the pelvis showed a smooth-surfaced, rod-like bony structure attaching to the sacrum on the left side. The appearance was consistent with sacral rib. The sacrum was hypoplastic and deviated to the right. Magnetic resonance imaging (MRI) showed insertion of the gluteus maximus (GM) onto the coccyx only on the right side. The sacral rib existed beneath the left GM muscle and received a partial insertion from the left GM muscle. No ligamentous continuation between the sacral rib and coccyx was observed. Conservative treatment relieved symptoms, so no surgical intervention was performed. Sacral rib is a rare congenital anomaly for which surgical intervention is usually unnecessary. However, appropriate workups with CT and/or MRI should be considered for women, because sacral rib may cause complications during childbirth. In the literature, sacral/coccygeal rib is sometimes called "pelvic rib." However, sacral/coccygeal rib should be distinguished from pelvic rib, because pelvic rib originating from the ilium is considered to represent a different entity. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

    Morris, Joan K; Garne, Ester; Wellesley, Diana

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

  6. De novo pericentric inversion of chromosome 9 in congenital anomaly.

    Science.gov (United States)

    Jeong, Seon-Yong; Kim, Bo-Young; Yu, Jae Eun

    2010-09-01

    The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data. Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13). Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

  7. Congenital anomalies after assisted reproductive technology

    DEFF Research Database (Denmark)

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie

    2013-01-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment ...

  8. Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly

    DEFF Research Database (Denmark)

    Boyle, B; McConkey, R; Garne, E

    2013-01-01

    To assess the public health consequences of the rise in multiple births with respect to congenital anomalies.......To assess the public health consequences of the rise in multiple births with respect to congenital anomalies....

  9. Risk factors for congenital anomalies in the Netherlands : poster presentation

    NARCIS (Netherlands)

    Mohangoo, A.; Anthony, S.; Schönbeck, Y.; Buitendijk, S.

    2010-01-01

    Objectives: To determine the relation between several potential risk factors and the risk of having a newborn with one or more congenital anomalies. Participants: Data on 1,594,380 registered newborns from the Netherlands Perinatal Registry database were analysed. Logistic regression models were use

  10. Tissue Engineering for Congenital Anomalies concerning the Bladder and Abdominal Wall.

    NARCIS (Netherlands)

    Roelofs, L.A.J.

    2014-01-01

    Severe congenital anomalies can have a large impact on the lives of patients. With tissue engineering techniques damaged or absent tissue can be regenerated, which can become a treatment option for congenital anomalies. In this thesis treatment possibilities for congenital anomalies concerning the b

  11. Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies

    DEFF Research Database (Denmark)

    Loane, Maria; Dolk, Helen; Garne, Ester;

    2011-01-01

    The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for...

  12. Insulin analogues in pregnancy and specific congenital anomalies; a literature review

    NARCIS (Netherlands)

    de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa; Morgan, Margery; de Jong-van den Berg, Lolkje T W; Wang, Hao

    2016-01-01

    BACKGROUND: Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. METHODS: We performed a literature search for

  13. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  14. Congenital optic nerve anomalies and hereditary optic neuropathies.

    Science.gov (United States)

    Heidary, Gena

    2014-12-01

    Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant.

  15. Hypospadias - prevalence, birth weight and associated major congenital anomalies

    DEFF Research Database (Denmark)

    Nissen, Karin Baekgaard; Udesen, Ann; Garne, Ester

    2015-01-01

    of 16.9 per 10,000 births. The prevalence was significantly higher in 2000-2009 compared to 1986-1999 (plow birth weight) infants among cases with hypospadias. Infants with isolated hypospadias were more likely to have mild hypospadias (68......AIM: The aim of this study was to determine the prevalence of hypospadias over 24 years in a Danish population and to describe the relation to birth weight and associated major congenital anomalies. METHODS: Population-based study of all cases (live births, fetal deaths and elective terminations...... of pregnancy) with hypospadias born in the period 1986-2009 in Funen County and reported to the EUROCAT registry of congenital anomalies. Cases were included only if surgery for hypospadias was performed. RESULTS: 223 cases of hypospadias were registered during the period 1986-2009 with an overall prevalence...

  16. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

    Science.gov (United States)

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel–Joubert, short rib, Bardet–Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

  17. Stillbirth and congenital anomalies in migrants in Europe

    DEFF Research Database (Denmark)

    Andersen, Anne-Marie Nybo; Gundlund, Anna; Villadsen, Sarah Fredsted

    2016-01-01

    The risk of giving birth to a stillborn child or a child with severe congenital anomaly is higher for women who have immigrated to Europe as compared to the majority population in the receiving country. The literature, however, reveals great differences between migrant groups, even within migrants...... from low-income countries, although there is no clear pattern regarding refugee or non-refugee status. This heterogeneity argues against a particular migration-related explanation. There are social disparities in stillbirth risk worldwide, and it has been suggested that the demonstrated ethnic...... disparity is a result of the socioeconomic disadvantage most migrants face. Consanguinity has been considered as another cause for the increased stillbirth risk and the high risk of congenital anomaly observed in many migrant groups. Utilization and quality of care during pregnancy and childbirth...

  18. Congenital anomalies among live births in a polluted area. A ten-year retrospective study

    Directory of Open Access Journals (Sweden)

    Gianicolo Emilio Antonio Luca

    2012-12-01

    Full Text Available Abstract Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. Methods This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosis of congenital anomaly. We classified cases according to the coding system adopted by the European Network for the Surveillance of Congenital Anomalies (EUROCAT. Prevalence rates of congenital anomalies in Brindisi were compared with those reported by EUROCAT. Logistic regression models were adapted to evaluate the association between congenital anomalies and municipality of residence of the mother during pregnancy. Results Out of 8,503 newborns we recorded 194 subjects with congenital anomalies (228.2/10,000 total births, 1.2 times higher than the one reported by the EUROCAT pool of registries. We observed 83 subjects with congenital heart diseases with an excess of 49.1%. Odds Ratios for congenital heart diseases significantly increased for newborns to mothers resident in Brindisi (OR 1.75 CI 95% 1.30-2.35. Conclusions Our findings indicated an increased prevalence of Congenital Anomalies (especially congenital heart diseases in the city of Brindisi. More research is needed in order to analyze the role of factors potentially involved in the causation of congenital anomalies.

  19. Congenital anomaly surveillance in England—ascertainment deficiencies in the national system

    OpenAIRE

    Boyd, PA; Armstrong, B; Dolk, H; Botting, B; Pattenden, S.; Abramsky, L.; Rankin, J.; Vrijheid, M; Wellesley, D

    2005-01-01

    Objective Firstly, to assess the completeness of ascertainment in die National Congenital Anomaly System (NCAS), the basis for congenital anomaly surveillance in England and Wales, and its variation by defect geographical area, and socioeconomic deprivation. Secondly, to assess die impact of the lack of data on pregnancies terminated because of fetal anomaly. Design Comparison of the NCAS with four local congenital anomaly registers in England. Setting Four regions in England covering some 10...

  20. [Congenital anomalies of poor prognosis. Genetics Consensus Committee].

    Science.gov (United States)

    Pardo Vargas, Rosa A; Aracena, Mariana; Aravena, Teresa; Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado, Cecilia; Passalacqua, Cristóbal; Sanz, Patricia; Castillo Taucher, Silvia

    The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it. It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP. A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Congenital anomalies and childhood cancer in Great Britain

    Energy Technology Data Exchange (ETDEWEB)

    Narod, S.A. [Univ. of Toronto (Canada); Hawkins, M.M.; Robertson, C.M.; Stiller, C.A. [Univ. of Oxford (United Kingdom)

    1997-03-01

    The presence of cancer and a congenital anomaly in the same child may be explained in certain cases by an underlying genetic abnormality. The study of these associations may lead to the identification of genes that are important in both processes. We have examined the records of 20,304 children with cancer in Britain, who were entered into the National Registry of Childhood Tumors (NRCT) during 1971-86, for the presence of congenital anomalies. The frequency of anomalies was much higher among children with solid tumors (4.4%) than among those with leukemia or lymphoma (2.6%; P < .0001). The types of cancer with the highest rates of anomalies were Wilms tumor (8.1 %), Ewing sarcoma (5.8%), hepatoblastoma (6.4%), and gonadal and germ-cell tumors (6.4%). Cases of spina bifida and abnormalities of the eye, ribs, and spine were more common in children with cancer than among population-based controls. Future studies may be directed toward identifying the developmental pathways and the relevant genes that are involved in the overlap between pediatric cancer and malformation. 46 refs., 12 tabs.

  2. Study of various congenital anomalies in fetal and neonatal autopsy

    Directory of Open Access Journals (Sweden)

    V. Siva Sankara Naik

    2015-05-01

    Full Text Available Background: The study of dead is to save the livings. The growing awareness that still births and infant mortalities are unable to reduction has led to a wide spread desire for more information regarding the cause of these deaths. Congenital malformations have become important cause of fetal and neonatal (perinatal mortality in developed countries and would very soon be increasingly important determinants of fetal and neonatal mortality in developing countries like India. In spite of antenatal diagnostic modality still the fetal autopsy plays the vital role in the conformation as well as identification of congenital anomalies and also for the counseling of the parents, to prevent the fetal congenital anomalies in further pregnancies. This study was undertaken with the purpose of finding out cause of death during the perinatal period at government maternity hospital and pediatric department S.V.R.R.G.G.H. and S.V. medical college Tirupati, and to study the clinical and pathological findings (Gross and microscopic in fetal and neonatal death. Methods: The present study of congenital anomalies in fetal and neonatal deaths was done at S.V. medical college, Tirupati, over a time period of 2 years from September 2008 to 2010 August. Consent for autopsy in requested compassionately, respectfully and fully informed. The present study included dead fetus and neonates with gestational age above 20 weeks of intra uterine life and within 7 days of post natal life. All fetuses of gestational age <20 weeks and all neonates above 7 days of age were excluded from the study. The study also obtained clearance from the ethical committee of the institution. Autopsy was performed by standard technique adopted by Edith L. Potter. External and internal findings followed by histopathological examination, and autopsy findings were compared with available ultrasound findings. Results: A total of 46 Autopsies performed, 40 (87% were fetal deaths, 6 (13% were early

  3. Epidemiology of Congenital Anomalies in a Population-based Birth Registry in Taiwan, 2002

    Directory of Open Access Journals (Sweden)

    Bing-Yu Chen

    2009-06-01

    Conclusion: The occurrence rates for individual congenital anomalies in Taiwan were reported. Older maternal age was a risk factor for the occurrence of chromosomal and orofacial anomalies. More active prenatal screening and further investigation of causal factors of congenital anomalies are of major importance.

  4. [Congenital anomalies of cerebral artery and intracranial aneurysm].

    Science.gov (United States)

    Nakajima, K; Ito, Z; Hen, R; Uemura, K; Matsuoka, S

    1976-02-01

    It is well known that congenital anomalies such as polycystic kidney, aortic coarctation, Marfan syndrome, Ehler-Danlos syndrome are apt to be complicated by intracranial aneurysms. In this report we attempt to reveal the relation and incidence between cerebrovascular anomalies and intracranial aneurysms. The etiology of aneurysms has been discussed, too. 12 cases of persistent trigeminl artery, 2 cases of persistent hypoglossal artery and 11 cases of fenestration were obtained from 3841 patients who were angiographically examined in our clinic for 5 years. The incidence is 0.31%, 0.05% and 0.29%, respectively. Persistent trigeminal arteries were complicated by 2 cases of intracranial aneurysms and one case of arterivenous malformations (AVM), persistent hypoglossal arteries were complicated by one case of aneurysm, and fenestrations were complicated by 2 cases of aneurysms and one case of AVM. One case of congenital agenesis of right internal carotid artery was obtained which was complicated by aneurysm of anterior communicating artery. Totally, 8 cases of aneurysms and AVM were obtained from 26 cases of cerebrovascular anomalies (incidence 30.8%). On the other hand, thalamic or caudate hemorrhage revealed the highest incidence of complication of intracranial aneurysms among intracerebral hematomas (10.7%). Compared with the incidence of aneurysms between cerebro vascular anomalies (30.8%) and thalamic or caudate hemorrhage (10.7%), the difference is statistically signigicant (P less than 0.05). The cause of intracranial aneurysm has not yet been clarified. But it is well accepted that the defect of tunica media vasorum is most responsible factor as to the occurrence of intracranial aneurysms. We concluded that the genetic error of cerebral vessels including defect of media caused intracranial aneurysms, and this result was supported from the evidence that cerebrovascular anomalies showed statistically high incidence of complication of intracranial aneurysms.

  5. Congenital vascular anomalies: current perspectives on diagnosis, classification, and management

    Directory of Open Access Journals (Sweden)

    Blei F

    2016-07-01

    Full Text Available Francine Blei,1 Mark E Bittman2 1Vascular Anomalies Program, Lenox Hill Hospital, Northwell Health, 2Department of Radiology, New York University Langone Medical Center, New York, NY, USA Abstract: The term "congenital vascular anomalies" encompasses those vascular lesions present at birth. Many of these lesions may be detected in utero. This review serves to apprise the readership of newly identified diagnoses and updated classification schemes. Attention is focused on clinical features, patterns of presentation, clinical manifestations and behavior, diagnostic tools, and treatment modalities. It is an invigorating period for this field, with a surge in vascular anomalies-related basic and clinical research, genetics, pharmacology, clinical trials, and patient advocacy. A large number of professional conferences now include vascular anomalies in the agenda, and trainees in multiple specialties are gaining expertise in this discipline. We begin with a summary of classification schemes and introduce the updated classification adopted by the International Society for the Study of Vascular Anomalies. Disease entities are described, with liberal use of photographs, as many diagnoses can be established based on a thorough history and visual appearance and it is thus essential to develop a familiarity with diagnosis-specific physical features. Peripheral (non-central nervous system vascular anomalies are the focus of this review. We focus on those entities in which diagnostic radiology is routinely used and accentuate when histologic confirmation is essential. We also underscore some differences in approach to the pediatric vs adolescent or adult patient. A list of Internet-based resources is included, with hyperlinks to informative sites. References are limited to seminal discoveries and review articles. We hope that our enthusiasm in writing this review will be shared by those who read this review. Keywords: vascular anomalies, hemangiomas, vascular

  6. Suspectable Risk Factors of Congenital Anomaly in Dr. Hasan Sadikin General Hospital Bandung, Indonesia

    Directory of Open Access Journals (Sweden)

    Pradistya Syifa Yudiasari

    2017-06-01

    Full Text Available Background: Congenital anomaly is a disease of structural or functional alteration since birth. The cause of congenital anomaly is genetic, environtment, and unknown. The cause of congenital anomaly is unknown, made congenital anomaly is difficult to detect. Therefore, the objective of this study was to identify the suspectable risk factors of congenital anomaly. Methods: This was a descriptive study. About 78 samples were taken by purposive sampling from medical records of patients with congenital anomaly in pediatric surgery ambulatory unit at Dr. Hasan Sadikin General Hospital (RSHS, Bandung from September to November 2014. From the selected medical records, an interview was carried out to the parents’ patient to identify some suspectable risk factors. The collected data were analyzed and presented in tables. Results: From 78 medical records,  hirschprung disease was the highest among all type of congenital anomaly (29%. The characteristic of congenital anomaly was mothers in the age of 20–35 years (65%, fathers’ age was  more than 20 years old, family history of congenital anomaly was 1%, there was no history of previous congenital anomaly in previous pregnancy, infection history was 3%, history of medication was 11.5%, mother’s BMI was in normal term (18.5─24.9 as much as 65%, no history of radiation, there was no history of chronic alcohol. History of smoking/passive smoking was high (65%. Conclusions: Hirschprung disease is the highest rate disease in congenital anomaly and smoking is a highest suspectable risk factor contribute to congenital anomaly.   DOI: 10.15850/amj.v4n2.1095

  7. Scanning electron microscopy of congenital corneal leukomas (Peters' anomaly).

    Science.gov (United States)

    Polack, F M; Graue, E L

    1979-08-01

    Specimens of three corneas in two patients with Peter's anomaly were obtained at the time of penetrating keratoplasty and studied by scanning and transmission electron microscopy. In one patient, the anomaly was monocular, and the endothelial surface showed a central defect in Descemet's layer with isolated rounded defects in the midperiphery. Fine collagenous material covered the posterior surface. The other two specimens were obtained from a patient with rubella syndrome without cataracts. The cornea showed malformation of Descemet's membrane with fibroblastic overgrowth on the endothelial layer. Epithelial-like cells and leukocytes were also found. The congenital central leukoma we believe was caused by adhesion of the pupillary membrane in our first patient, and possibly was inflammatory in our second patient.

  8. A Case with Microphthalmia and Multiple Congenital Anomalies

    Directory of Open Access Journals (Sweden)

    Ayça Sarı

    2013-12-01

    Full Text Available We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital dysplasia, oculofaciocardiodental syndrome, and Lenz microphthalmia syndrome. Our patient’s clinical features also involved microcephaly, cleft palate, developmental delay, digital and urogenital anomalies, cardiac septal defects and hearing loss, which diagnosis is mostly consistent with the Lenz microphthalmia syndrome. Lenz microphthalmia syndrome is a very rare conditions and their expressions are more often in countries with high rates of consanguineous marriages. Hence, recognizing such rare syndromes in patients with multiple congenital anomalies is essential. (Turk J Ophthalmol 2013; 43: 468-70

  9. Use of hierarchical models to analyze European trends in congenital anomaly prevalence

    NARCIS (Netherlands)

    Cavadino, Alana; Prieto-Merino, David; Addor, Marie-Claude; Arriola, Larraitz; Bianchi, Fabrizio; Draper, Elizabeth; Garne, Ester; Greenlees, Ruth; Haeusler, Martin; Khoshnood, Babak; Kurinczuk, Jenny; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Wellesley, Diana; Morris, Joan K.

    Background: Surveillance of congenital anomalies is important to identify potential Teratcgens. Despite known associations between different anomalies, current surveillance methods examine trends witin each subgroup separately. We aimed to evaluate whether hierarchical statistical methods that

  10. Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population-based registry study

    DEFF Research Database (Denmark)

    Calzolari, Elisa; Barisic, Ingeborg; Loane, Maria;

    2014-01-01

    more frequently prenatally diagnosed (p congenital heart defects...... and limb anomalies were the least likely to occur with other anomalies (13%) (p congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital......BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010. METHODS: EUROCAT implemented a computer algorithm...

  11. Congenital anomalies of the pulmonary arteries: spectrum of findings on computed tomography.

    Science.gov (United States)

    Bueno, J; Flors, L; Mejía, M

    Congenital anomalies of the pulmonary arteries are uncommon. They can occur in isolation or in association with congenital heart defects. Isolated congenital anomalies remain undiscovered until they are reported as incidental findings on imaging tests, usually not until adolescence. We review the embryological development and normal anatomy of the pulmonary arteries as well as the spectrum of computed tomography findings for various congenital anomalies: unilateral interruption of the pulmonary artery, anomalous origin of the left pulmonary artery (pulmonary artery sling), idiopathic aneurysm of the pulmonary artery, and other anomalies associated with congenital heart defects. Congenital anomalies of the pulmonary arteries represent a diagnostic challenge for clinicians and radiologists. Computed tomography is useful for their diagnosis, and general radiologists need to be familiar with their imaging appearance because they are often discovered incidentally. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Risk of congenital anomalies after exposure to asthma medication in the first trimester of pregnancy

    DEFF Research Database (Denmark)

    Garne, E.; Hansen, A. Vinkel; Morris, J.

    2016-01-01

    .12–3.49) was associated with exposure to combination treatment with inhaled corticosteroids and long-acting beta-2-agonists. Associations with renal dysplasia were driven by exposure to short-acting beta-2-agonists (2.37; 1.20–4.67). Conclusion: The increased risk of congenital anomalies for women taking asthma......Objective: To examine the effect of maternal exposure to asthma medications on the risk of congenital anomalies. Design: Meta-analysis of aggregated data from three cohort studies. Setting: Linkage between healthcare databases and EUROCAT congenital anomaly registries. Population: 519 242...... estimated separately for each register and combined in meta-analyses. Main outcome measures: ORs for all congenital anomalies and specific congenital anomalies. Results: Overall exposure prevalence was 3.76%. For exposure to asthma medication in general, the adjusted OR (adjOR) for a major congenital...

  13. 77. Ultrasonography assessment of congenital renal anomalies in children with congenital heart diseases

    Directory of Open Access Journals (Sweden)

    M.H. Hamadah

    2016-07-01

    Full Text Available Ultrasound (US assessment of renal anomalies in children requiring pediatric cardiac surgery is not a standard practice. This study aimed to study the role of bedside US performed by intensivists to detect occult renal anomalies associated with congenital heart disease (CHD. Prospective descriptive study for 100 consecutive children with CHD admitted to Pediatric Cardiac Intensive Care Unit (PCICU from Januarry 1st, 2015 through June, July 2015. Ultrasound of kidneys was performed initially by trained pediatric cardiac intensivists to ascertain the presence of both kidneys in renal fossae and to check for gross kidney anomalies. After screening of 100 consecutive children with CHD with renal US, we identified in 94 cases (94% normal right and left kidney in the standard sonographer shape in the renal fossae. In 6 cases further investigation revealed ectopic kidney in 3 patients (50%, solitary functional kidney in 2 patients (33.4% and bilateral grade IV hydronephrosis in one patient (16.6%. Urinary tract infection developed peri-operatively in 66% of the cases with kidney anomalies. No significant renal impairment was noted in these patients post-surgery. We observed no specific association between the type of renal anomaly and specific CHD. Renal US in children with CHD demonstrated prevalence of associated congenital renal anomalies in 6% of children undergoing cardiac surgery. The presence of occult kidney anomalies did not impact the kidney function or the short term outcome after cardiac repair except for an increased risk of urosepsis. Performing renal US should be a standard practice in all children with CHD.

  14. [Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations].

    Science.gov (United States)

    Šípek, Antonín; Gregor, Vladimír; Horáček, Jiří; Šípek, Antonín; Langhammer, Pavel

    2013-09-01

    Analysis of the prevalence rates of selected diagnoses of congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of postnatal and total (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. Data on congenital anomalies in general and selected types of congenital anomalies were analyzed for the entire Czech Republic from 1994-2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres in the Czech Republic thanks to voluntary cooperation. This study analyzed postnatal and overall prevalence of congenital anomalies, with the latter including results of positive prenatal diagnosis. More detailed analysis was carried out for the following diagnoses: cystic kidney disease, renal agenesis/hypoplasia, tetralogy of Fallot, large vessel transposition, left heart hypoplasia, aortic coarctation, Down syndrome, Edward syndrome, and Patau syndrome. Cystic kidney disease showed a significant increase in 1999 and 2000, mainly due to postnatally diagnosed cases. This can be explained, on the one hand, by the modification made to the reporting of congenital anomalies in the Czech Republic and, on the other hand, by an earlier and more complete detection of postnatal cases. Since 2000, there has been a significant increase in reported cystic kidney disease as a result of postnatal kidney screening. In 1994-1999, the prevalence rates of this diagnosis ranged from 1.7 to 3.1 per 10,000 live births. Similar trend is seen in the prevalence of renal agenesis/hypoplasia. In the monitored period, prenatally diagnosed cases showed a slight increase while postnatally diagnosed cases showed a considerable rise. In 1994-1999, the

  15. Paper 2 : EUROCAT Public Health Indicators for Congenital Anomalies in Europe

    NARCIS (Netherlands)

    Khoshnood, Babak; Greenlees, Ruth; Loane, Maria; Dolk, Helen

    2011-01-01

    OBJECTIVE: The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. METHODS: The six indicators are: (1) congenital anomaly

  16. A study of incidence of congenital anomalies in newborn: a hospital based study

    Directory of Open Access Journals (Sweden)

    Nivedita Prashar

    2016-06-01

    Conclusion: This study stresses upon incidence of congenital anomalies as they are an important cause of perinatal mortality. To decrease the incidence of various congenital anomalies and their prevalence in the particular region, it is important that the distribution and prevalence are identified in that region and country as a whole. [Int J Res Med Sci 2016; 4(6.000: 2050-2053

  17. Psychological and Behavioral Characteristics of Chromosomal Anomalies and Congenital Contiguous Gene Syndrome

    OpenAIRE

    2015-01-01

    Congenital anomalies exert significant impact on individuals and their families, with particularly negative effects on their quality of life. However, studies focusing on the psychological and behavioral characteristics of children with congenital anomalies are still limited, though this information is indispensable for the educational support of such children. In this paper, we reviewed articles dealing with psychological, behavioral and socioemotionalcharacteristics of children with congeni...

  18. The experience of mutation rate quantitative evaluation in connection with environmental pollution (based on studies of congenital anomalies in human populations).

    Science.gov (United States)

    Antipenko YeN; Kogut, N N

    1993-10-01

    For 3 years genetic monitoring of congenital anomalies (CA) has been carried out in three Ukrainian towns essentially different in the level of air pollution: the most polluted, Mariupol (M.); medium polluted, Zaporozhye (Z.); and relatively clean, Simpheropol (S.). In this work we present the results of this study. Eighteen CAs being used in the International Clearinghouse program were registered during the first year of life. For each case of CA an individual questionnaire was filled in. It included practically all known causes of malformations. Similar questionnaires were filled in for cases of normal birth outcome. The estimation of newborns of control groups was made according to a score of 9-10 on the Apgar scale. The questionnaires were completed by physicians in all maternity hospitals and children's clinics and based on the information obtained from mothers. Multiple malformations, dominant and X-linked CA in M. were 2.6-3.1 times more frequent than in S. The frequency of new mutations was 0.45-0.95 and 0.17-0.47 per 10(3) births respectively. No differences in multifactorial and recessive CA were noted. The mathematical method (so-called statusmetrical analysis) was used to indirectly determine the part of CAs of unknown etiology (probably of mutation origin) in the total number of CAs. Their quota in Z. and M. was 1.2-1.5 times more than in S. The advantage of statusmetrical analysis lies in the absence of any restrictions connected with a large number of parameters which describe the object's status. It makes it possible to analyze tens, even hundreds of factors (along with the increased number of parameters the reliability of the conclusions increases) and range them in accordance with their validity. Genetic consequences of chemical pollution were estimated in biological equivalents Röntgen (BER). In M. they were equal to the effect of irradiation at doses of 180-300 BER (230 BER, central estimate) over 30 years. In the polluted towns (M. and Z.) the

  19. Congenital aortic arch anomalies: diagnosis using contrast enhanced magnetic resonance angiography

    Institute of Scientific and Technical Information of China (English)

    ZHU Ming; ZHONG Yu-min; LI Yu-hua; SUN Ai-min; JIN Biao

    2005-01-01

    @@ Congenital aortic arch anomalies occur most commonly in children. The disease can be classified into three types: ① obstructive congenital abnormalities, including coarctation of aorta (CoA) and interruption of aortic arch (IAA); ② non-obstructive congenital abnormalities, including double aortic arch and others; ③ congenital shunt abnormalities, including different types of patent ductus arteriosus (PDA). Management of patients with congenital aortic arch anomalies relies on imaging. Routine imaging modalities, such as conventional X-ray plain film and transthoracic echocardiography (TTE), have been recently complemented by magnetic resonance imaging (MRI).

  20. The incidence of apparent congenital urogenital anomalies in North Indian newborns: A study of 20,432 pregnancies

    Directory of Open Access Journals (Sweden)

    A. Bhat

    2016-09-01

    Conclusions: The incidence of apparent congenital urogenital anomalies was 3.91%. Infertility treatment, parity >2 and a maternal age >30 years were independently associated with an increased risk of congenital urogenital anomalies.

  1. Use of hierarchical models to analyze European trends in congenital anomaly prevalence

    DEFF Research Database (Denmark)

    Cavadino, Alana; Prieto-Merino, David; Addor, Marie-Claude

    2016-01-01

    BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. Despite known associations between different anomalies, current surveillance methods examine trends within each subgroup separately. We aimed to evaluate whether hierarchical statistical methods that c...... in relation to the prevalence of congenital anomalies, which could be investigated in other studies. Birth Defects Research (Part A) 106:480-10, 2016. © 2016 Wiley Periodicals, Inc....

  2. Congenital Anomalies and Termination of Pregnancy in Iran

    Directory of Open Access Journals (Sweden)

    Bahram Samadirad

    2012-01-01

    Full Text Available The aim of this study was to document some epidemiological features of termination of pregnancy for birth defects in Iran. We studied 603 pregnant women who were diagnosed/recommended for the termination of pregnancy as having a fetus with some types of birth defect(s. Most women (87.2 percent had at least one ultrasound examination. The proportion of other screening tests including amniocentesis and genetic tests were 2.8 and 4.6 percent, respectively. Of 603 women, 201 terminated the pregnancy giving a prevalence rate of 33.3 percent (CI 95%: 29.6–37.6. The remaining 402 subjects were unable to get the permission for abortion because of untimely diagnosis/application for termination (20th week of pregnancy and/or later. Forty-eight percent of termination of pregnancies was performed before the 18th week of pregnancy. Neural tube defects, limb deformation, hydrops fetalis, hydrocephaly, and chromosomal anomalies including Down syndrome accounted proportionally for about 65 percent of defects eligible for abortion in the region. Although the rate of termination of pregnancy for birth defects is acceptable at the current situation in the country, more efforts should still be made to convince the community authorities to give more possibility and ease for the termination of pregnancy for congenital anomalies.

  3. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    Science.gov (United States)

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids.

  4. A STUDY ON PREVALENCE OF CONGENITAL OCULAR ANOMALIES IN PAEDIATRIC AGE GROUP

    Directory of Open Access Journals (Sweden)

    Tupe Parag N, Chaudhari Sagar V

    2015-10-01

    Full Text Available Introduction: Most congenital anomalies are present long before the time of birth, some in the embryonic period (up to the7th week of gestation and other in the fetal period (8th week to term Purpose: To study the incidence of congenital ocular anomalies in paediatric age group. Materials & Methods: In this study total 9350 patients were screened. The age and sex of the patient, gestational age, occurrence of consanguineous, distribution of various subtype of congenital anomalies, subtype of congenital cataract, age at presentation and diagnosis were noted. Results: The age variation in the study was between 0-12 years. The maximum number of patients were in the age group of 0-2 years. Male: female ratio was 1:1.4. Number cases were reported in anterior segment with full term delivery.32 cases having no positive history of consanguineous marriage. Total 12 cases were found about chronic dacryocystitis, 8 cases of coloboma of iris and choroid and each 5 cases of congenital cataract and Microhthalmos were found. None of the cases had any history of antenatal, obstetric complication, radiation and drug intake. Conclusion: A prevalence of 0.053% of congenital ocular anomalies. Most common anomaly was congenital dacryocystitis (24%, congenital cataract and microphthalmos being the second most common anomalies (14% each.

  5. The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Addor, Marie-Claude; Arriola, Larraitz

    2015-01-01

    BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general...... was performed for EUROCAT-defined anomaly subgroups, divided by whether there was a prior hypothesis of association with influenza. Influenza season exposure was based on World Health Organization data. Prevalence rate ratios were calculated comparing pregnancies exposed to influenza season during...... the congenital anomaly-specific critical period for embryo-fetal development to nonexposed pregnancies. RESULTS: There was no evidence for an increased overall prevalence of congenital anomalies among pregnancies exposed to influenza season. We detected an increased prevalence of ventricular septal defect...

  6. Prenatal exposure to tetrachloroethylene-contaminated drinking water and the risk of congenital anomalies: a retrospective cohort study

    Directory of Open Access Journals (Sweden)

    Webster Thomas F

    2009-09-01

    Full Text Available Abstract Background Prior animal and human studies of prenatal exposure to solvents including tetrachloroethylene (PCE have shown increases in the risk of certain congenital anomalies among exposed offspring. Objectives This retrospective cohort study examined whether PCE contamination of public drinking water supplies in Massachusetts influenced the occurrence of congenital anomalies among children whose mothers were exposed around the time of conception. Methods The study included 1,658 children whose mothers were exposed to PCE-contaminated drinking water and a comparable group of 2,999 children of unexposed mothers. Mothers completed a self-administered questionnaire to gather information on all of their prior births, including the presence of anomalies, residential histories and confounding variables. PCE exposure was estimated using EPANET water distribution system modeling software that incorporated a fate and transport model. Results Children whose mothers had high exposure levels around the time of conception had an increased risk of congenital anomalies. The adjusted odds ratio of all anomalies combined among children with prenatal exposure in the uppermost quartile was 1.5 (95% CI: 0.9, 2.5. No meaningful increases in the risk were seen for lower exposure levels. Increases were also observed in the risk of neural tube defects (OR: 3.5, 95% CI: 0.8, 14.0 and oral clefts (OR 3.2, 95% CI: 0.7, 15.0 among offspring with any prenatal exposure. Conclusion The results of this study suggest that the risk of certain congenital anomalies is increased among the offspring of women who were exposed to PCE-contaminated drinking water around the time of conception. Because these results are limited by the small number of children with congenital anomalies that were based on maternal reports, a follow-up investigation should be conducted with a larger number of affected children who are identified by independent records.

  7. ZIKA VIRUS INFECTION; VERTICAL TRANSMISSION AND FOETAL CONGENITAL ANOMALIES.

    Science.gov (United States)

    Abbasi, Aziz-un-Nisa

    2016-01-01

    Zika virus (ZIKV) is an arbovirus belonging to flaviviridae family that includes Dengue, West Nile, and Yellow Fever among others. Zika virus was first discovered in 1947 in Zika forest of Uganda. It is a vector borne disease, which has been sporadically reported mostly from Africa, Pacific islands and Southeast Asia since its discovery. ZIKV infection presents as a mild illness with symptoms lasting for several days to a week after the bite of an infected mosquito. Majority of the patients have low grade fever, rash, headaches, joints pain, myalgia, and flu like symptoms. Pregnant women are more vulnerable to ZIKV infection and serious congenital anomalies can occur in foetus through trans-placental transmission. The gestation at which infection is acquired is important. Zika virus infection acquired in early pregnancy poses greater risk. There is no evidence so far about transmission through breast milk. Foetal microcephaly, Gillian Barre syndrome and other neurological and autoimmune syndromes have been reported in areas where Zika outbreaks have occurred. As infection is usually very mild no specific treatment is required. Pregnant women may be advised to take rest, get plenty of fluids. For fever and pain they can take antipyretics like paracetamol. So far no specific drugs or vaccines are available against Zika Virus Infection so prevention is the mainstay against this diseases. As ZIKV infection is a vector borne disease, prevention can be a multi-pronged strategy. These entail vector control interventions, personal protection, environmental sanitation and health education among others.

  8. Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy

    Science.gov (United States)

    Santoro, Michele; Minichilli, Fabrizio; Pierini, Anna; Astolfi, Gianni; Bisceglia, Lucia; Carbone, Pietro; Conti, Susanna; Dardanoni, Gabriella; Iavarone, Ivano; Ricci, Paolo; Scarano, Gioacchino; Bianchi, Fabrizio

    2017-01-01

    The health impact on populations residing in industrially contaminated sites (CSs) is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this study was to estimate the risk of congenital anomalies (CAs) in Italian CSs. Thirteen CSs covered by regional CA registries were investigated in an ecological study. The observed/expected ratios (O/E) with 90% confidence intervals (CI) for the total and specific subgroups of CAs were calculated using the regional areas as references. For the CSs with waste landfills, petrochemicals, and refineries, pooled estimates were calculated. The total number of observed cases of CAs was 7085 out of 288,184 births (prevalence 245.8 per 10,000). For some CSs, excesses for several CA subgroups were observed, in particular for genital and heart defects. The excess of genital CAs observed in Gela (O/E 2.36; 90% CI 1.73–3.15) is consistent with findings from other studies. For CSs including petrochemical and landfills, the pooled risk estimates were 1.10 (90% CI 1.01–1.19) and 1.07 (90% CI 1.02–1.13), respectively. The results are useful in identifying priority areas for analytical investigations and in supporting the promotion of policies for the primary prevention of CAs. The use of short-latency effect indicators is recommended for the health surveillance of the populations residing in CSs. PMID:28287452

  9. Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy

    Directory of Open Access Journals (Sweden)

    Michele Santoro

    2017-03-01

    Full Text Available The health impact on populations residing in industrially contaminated sites (CSs is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this study was to estimate the risk of congenital anomalies (CAs in Italian CSs. Thirteen CSs covered by regional CA registries were investigated in an ecological study. The observed/expected ratios (O/E with 90% confidence intervals (CI for the total and specific subgroups of CAs were calculated using the regional areas as references. For the CSs with waste landfills, petrochemicals, and refineries, pooled estimates were calculated. The total number of observed cases of CAs was 7085 out of 288,184 births (prevalence 245.8 per 10,000. For some CSs, excesses for several CA subgroups were observed, in particular for genital and heart defects. The excess of genital CAs observed in Gela (O/E 2.36; 90% CI 1.73–3.15 is consistent with findings from other studies. For CSs including petrochemical and landfills, the pooled risk estimates were 1.10 (90% CI 1.01–1.19 and 1.07 (90% CI 1.02–1.13, respectively. The results are useful in identifying priority areas for analytical investigations and in supporting the promotion of policies for the primary prevention of CAs. The use of short-latency effect indicators is recommended for the health surveillance of the populations residing in CSs.

  10. Midwives' views on of appropriate antenatal counselling for congenital anomaly tests: do they match clients' preferences?

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Spelten, E.R.; Gitsels-van der Wal, J.T.; Dulmen, S. van

    2014-01-01

    Objective: this study aims to provide insight into: (a) midwives' views on appropriate antenatal counselling for congenital anomaly tests, and (b) whether these views match clients' preferences regarding antenatal counselling. Design: a comparative (midwives versus clients) questionnaire survey. Cog

  11. Midwives' views on appropriate antenatal counselling for congenital anomaly tests: Do they match clients' preferences?

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Spelten, E.R.; Gitsels-van der Wal, J.T.; Dulmen, S. van

    2014-01-01

    OBJECTIVE: this study aims to provide insight into: (a) midwives' views on appropriate antenatal counselling for congenital anomaly tests, and (b) whether these views match clients' preferences regarding antenatal counselling. DESIGN: a comparative (midwives versus clients) questionnaire survey. Cog

  12. Maternal cancer and congenital anomalies in children - a Danish nationwide cohort study

    DEFF Research Database (Denmark)

    Momen, Natalie; Ernst, Andreas; Arendt, Linn Håkonsen

    2017-01-01

    Several studies on pregnancy-associated cancers have suggested an association with congenital anomalies in offspring. Previous studies have included maternal cancers diagnosed up to 2 years after pregnancy; however, long latency periods of some cancers mean that cancers diagnosed many years...... postpartum might have been present during pregnancy in a preclinical state. This paper considers the association between maternal cancers diagnosed from 2 years prior to pregnancy until the mother reaches 50 years of age, and congenital anomalies, as diagnosed at birth or within the first year of life....... The current population-based study looks at associations of cancers in mothers with congenital anomalies in their children. Children were followed up from birth to diagnosis of a congenital anomaly, death, emigration or end of follow-up (whichever occurred first). A total of 56,016 children (2.6%) were...

  13. Midwives' views on of appropriate antenatal counselling for congenital anomaly tests: do they match clients' preferences?

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Spelten, E.R.; Gitsels-van der Wal, J.T.; Dulmen, S. van

    2014-01-01

    Objective: this study aims to provide insight into: (a) midwives' views on appropriate antenatal counselling for congenital anomaly tests, and (b) whether these views match clients' preferences regarding antenatal counselling. Design: a comparative (midwives versus clients) questionnaire survey.

  14. Midwives' views on appropriate antenatal counselling for congenital anomaly tests: Do they match clients' preferences?

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Spelten, E.R.; Gitsels-van der Wal, J.T.; Dulmen, S. van

    2014-01-01

    OBJECTIVE: this study aims to provide insight into: (a) midwives' views on appropriate antenatal counselling for congenital anomaly tests, and (b) whether these views match clients' preferences regarding antenatal counselling. DESIGN: a comparative (midwives versus clients) questionnaire survey.

  15. Congenital heart anomaly in newborns with congenital diaphragmatic hernia: a single-center experience.

    Science.gov (United States)

    Ruano, R; Javadian, P; Kailin, J A; Maskatia, S A; Shamshirsaz, A A; Cass, D L; Zamora, I J; Sangi-Haghpeykar, H; Lee, T C; Ayres, N A; Mehollin-Ray, A; Cassady, C I; Fernandes, C; Welty, S; Belfort, M A; Olutoye, O O

    2015-06-01

    To evaluate the impact of the presence of a congenital heart anomaly (CHA) and its potential contribution to morbidity and mortality in infants with congenital diaphragmatic hernia (CDH). In this retrospective cohort study, prenatal and postnatal data of all newborns diagnosed with CDH between January 2004 and December 2012 in a single center were reviewed. Cases were classified into two groups: those with 'isolated' CDH and those with both CDH and CHA. Patients with CHA were further subclassified into those with a major or minor CHA based on the Risk Adjustment for Congenital Heart Surgery-1 (RACHS-1), and the Society of Thoracic Surgeons-European Association for Cardiothoracic Surgery (STS-EACTS) scoring systems. Patients with associated non-cardiac anomalies, including 'syndromic cases', were excluded from the analysis. Primary and secondary outcomes were survival up to 1 year of age and a need for extracorporeal membrane oxygenation (ECMO), respectively. Of the 180 infants with CDH, 41 were excluded because of the presence of non-cardiac associated anomalies, 118 had isolated CDH and 21 had CDH with CHA (16 with minor and five with major CHA). Receiver-operating characteristics curve analysis demonstrated that the best cut-off for survival was when the score for CHA was ≤ 2 for both RACHS-1 (area under the curve (AUC), 0.74 (P = 0.04); sensitivity, 80.0%; specificity, 87.5%) and STS-EACTS (AUC, 0.83 (P = 0.03); sensitivity, 100%; specificity, 87.5%). Survival rate at 1 year was significantly lower in those with CHD and a major CHA (40.0%; P = 0.04) than in those with isolated CDH (77.1%) and those with CDH and a minor CHA (81.3%). We found no significant differences among the groups with regard to the need for ECMO. In general, a milder form of CHA does not appear to have a negative impact on the survival of infants with CDH. However, mortality appears to be significantly higher in infants with CDH and a major form of CHA. The scoring systems

  16. Prenatal congenital vertical talus (rocker bottom foot): a marker for multisystem anomalies.

    Science.gov (United States)

    Rubio, Eva I; Mehta, Nimisha; Blask, Anna R; Bulas, Dorothy I

    2017-09-06

    Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

  17. Primary prevention of neural tube defects: data from the portuguese national registry of congenital anomalies (RENAC)

    OpenAIRE

    Braz, Paula; Machado, Ausenda; Matias Dias, Carlos

    2016-01-01

    Background: In Portugal folic acid supplementation is recommended to start at least 2-3 months before conception for primary prevention of Neural Tube Defects. The aim of this study was to evaluate, within gestations with at least one congenital anomaly, possible association between maternal socio-demographic factors and the use of folic acid. Methods: Using data from the Portuguese national registry of congenital anomalies, for the 2004-2013 period, the association between folic acid use dur...

  18. [Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region].

    Science.gov (United States)

    Gimeno-Martos, S; Cavero-Carbonell, C; López-Maside, A; Bosch-Sánchez, S; Martos-Jiménez, C; Zurriaga, O

    2016-04-01

    To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011. Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test. A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births. The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  19. [Frequency of congenital anomalies at the Instituto Materno Infantil, Bogota, Colombia].

    Science.gov (United States)

    García, Herbert; Salguero, Gustavo Andrés; Moreno, Jeffer; Arteaga, Clara; Giraldo, Alejandro

    2003-06-01

    At the Instituto Materno Infantil (IMI) in Bogotá (Colombia), 5,686 births (5,597 live births and 89 stillbirths) were analyzed during two periods: from October, 1997, to April, 1998, and from July to November, 2000 (12 months). Congenital anomalies were detected in 4.4% of live newborn babies and in 7.8% of stillbirths. Major anomalies corresponded to 69% and mild anomalies to 31% (3% and 1.4% of all live births, respectively). The newborn babies with major anomalies, in comparison to the normal controls, had higher mortality at hospital discharge (p = 0.0001), lower average birth weight (p = 0.003), and family history of congenital anomalies (p = 0.0001). The only significant association for mild anomalies was with family history of congenital anomalies (p = 0.0001). The frequency of congenital anomalies was similar to that in other studies, although certain kinds of anomalies showed noticeable frequency differences. This may be a consequence of differences in record keeping or in detection methods.

  20. Impact of maternal body mass index on the antenatal detection of congenital anomalies.

    Science.gov (United States)

    Best, K E; Tennant, P W G; Bell, R; Rankin, J

    2012-11-01

    To investigate the association between maternal body mass index (BMI) and antenatal ultrasound detection of congenital anomalies. Population-based register study. North of England (UK). All pregnancies (n = 3096) associated with a congenital anomaly notified to the Northern Congenital Abnormality Survey (NorCAS) during 2006-2009. Cases with chromosomal and teratogenic anomalies (n = 611) or without information on antenatal scanning (n = 4) were excluded. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) for antenatal detection according to maternal BMI categories were estimated using logistic regression. For all anomalies combined, cases were defined as 'detected' if any congenital anomaly was suspected antenatally. Organ system-specific anomalies were defined as detected if an anomaly of the correct system was suspected. Antenatal detection of any anomaly occurred in 1146 of 2483 (46.2%) cases with normal karyotype. The odds of detection were significantly decreased in obese (BMI ≥ 30 kg/m(2)) women compared with women of recommended BMI (18.5-24.9 kg/m(2); aOR, 0.77; 95% CI, 0.60-0.99; P = 0.046). Cardiovascular system anomalies were suspected antenatally in 109 of 945 (11.5%) cases. The odds of detecting a cardiovascular anomaly were significantly greater in underweight women (BMI BMI (aOR, 2.95; 95% CI, 1.13-7.70; P = 0.027). There was no association between BMI and detection in any other organ system or between BMI and termination of pregnancy for fetal anomaly. Antenatal ultrasound detection of a congenital anomaly is decreased in obese pregnant women. This has implications for the scanning and counselling of obese women. © 2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG.

  1. Fetus papyraceus: congenital pulmonary anomalies associated with congenital aplasia cutis on the surviving twin.

    Science.gov (United States)

    Louise, Lagier; Annabel, Maruani; Hubert, Lardy; Isabelle, Gibertini; Gerard, Lorette

    2013-01-01

    Aplasia cutis congenita (ACC) can be associated with fetus papyraceus. We report here the first case of ACC linked to fetus papyraceus with pulmonary anomalies. At birth, the patient presented with skin lesions of the trunk consisting of well-defined, symmetrically distributed, bilateral atrophic ulcerations. Physical examination was otherwise normal. Persistent bronchospasm occurred at the age of 7 months; computed tomography images showed small bilateral pulmonary bullae. At the age of 5 years, skin and pulmonary lesions had not extended. Although the mechanisms of ACC linked to fetus papyraceus are unclear, vascular ischemia is strongly suggested, and could explain the bilateral and symmetric congenital skin and lung aplasia. © 2013 Wiley Periodicals, Inc.

  2. Common congenital anomalies: Environmental causes and prevention with folic acid containing multivitamins.

    Science.gov (United States)

    Sarmah, Swapnalee; Muralidharan, Pooja; Marrs, James A

    2016-09-01

    Congenital anomalies, congenital defects, or birth defects are significant causes of death in infants. The most common congenital defects are congenital heart defects (CHDs) and neural tube defects (NTDs). Defects induced by genetic mutations, environmental exposure to toxins, or a combination of these effects can result in congenital malformations, leading to infant death or long-term disabilities. These defects produce significant mortality and morbidity in the affected individuals, and families are affected emotional and financially. Also, society is impacted on many levels. Congenital anomalies may be reduced by dietary supplements of folic acid and other vitamins. Here, we review the evidence for specific roles of toxins (alcohol, cigarette smoke) in causing common severe congenital anomalies like CHDs, NTDs, and ocular defects. We also review the evidence for beneficial effects for dietary supplementation, and highlight gaps in our knowledge, where research may contribute to additional benefits of intervention that can reduce birth defects. Extensive discussion of common severe congenital anomalies (CHDs, NTDs, and ocular defects) illustrates the effects of diet on the frequency and severity of these defects. Birth Defects Research (Part C) 108:274-286, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  3. Paper 5 : Surveillance of Multiple Congenital Anomalies: Implementation of a Computer Algorithm in European Registers for Classification of Cases

    NARCIS (Netherlands)

    Garne, Ester; Dolk, Helen; Loane, Maria; Wellesley, Diana; Barisic, Ingeborg; Calzolari, Elisa; Densem, James

    2011-01-01

    BACKGROUND: Surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple congenit

  4. Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Loane, Maria;

    2011-01-01

    Surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple congenital...

  5. Use of hierarchical models to analyze European trends in congenital anomaly prevalence.

    Science.gov (United States)

    Cavadino, Alana; Prieto-Merino, David; Addor, Marie-Claude; Arriola, Larraitz; Bianchi, Fabrizio; Draper, Elizabeth; Garne, Ester; Greenlees, Ruth; Haeusler, Martin; Khoshnood, Babak; Kurinczuk, Jenny; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Wellesley, Diana; Morris, Joan K

    2016-06-01

    Surveillance of congenital anomalies is important to identify potential teratogens. Despite known associations between different anomalies, current surveillance methods examine trends within each subgroup separately. We aimed to evaluate whether hierarchical statistical methods that combine information from several subgroups simultaneously would enhance current surveillance methods using data collected by EUROCAT, a European network of population-based congenital anomaly registries. Ten-year trends (2003 to 2012) in 18 EUROCAT registries over 11 countries were analyzed for the following groups of anomalies: neural tube defects, congenital heart defects, digestive system, and chromosomal anomalies. Hierarchical Poisson regression models that combined related subgroups together according to EUROCAT's hierarchy of subgroup coding were applied. Results from hierarchical models were compared with those from Poisson models that consider each congenital anomaly separately. Hierarchical models gave similar results as those obtained when considering each anomaly subgroup in a separate analysis. Hierarchical models that included only around three subgroups showed poor convergence and were generally found to be over-parameterized. Larger sets of anomaly subgroups were found to be too heterogeneous to group together in this way. There were no substantial differences between independent analyses of each subgroup and hierarchical models when using the EUROCAT anomaly subgroups. Considering each anomaly separately, therefore, remains an appropriate method for the detection of potential changes in prevalence by surveillance systems. Hierarchical models do, however, remain an interesting alternative method of analysis when considering the risks of specific exposures in relation to the prevalence of congenital anomalies, which could be investigated in other studies. Birth Defects Research (Part A) 106:480-10, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  6. Major Congenital Anomalies in Babies Born With Down Syndrome : A EUROCAT Population-Based Registry Study

    NARCIS (Netherlands)

    Morris, Joan K.; Garne, Ester; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Budd, Judith; Dias, Carlos Matias; Gatt, Miriam; Klungsoyr, Kari; Khoshnood, Babak; Latos-Bielenska, Anna; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rounding, Cath; Sipek, Antonin; Stoianova, Sylvia; Tucker, David; de Walle, Hermien; Yevtushok, Lyubov; Loane, Maria; Dolk, Helen

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to

  7. Congenital anomalies in children with cerebral palsy: a population-based record linkage study

    DEFF Research Database (Denmark)

    Rankin, Judith; Cans, Christine; Garne, Ester

    2009-01-01

    with ataxic CP (41.7%) and lowest in those with dyskinetic CP (2.1%). Cerebral anomalies were found in 8.4% and 7% of children with bilateral and unilateral spastic CP respectively. The most frequent cerebral anomalies were primary microcephaly (26.5%) and congenital hydrocephalus (17.3%). The most common non...

  8. Major Congenital Anomalies in Babies Born With Down Syndrome : A EUROCAT Population-Based Registry Study

    NARCIS (Netherlands)

    Morris, Joan K.; Garne, Ester; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Budd, Judith; Dias, Carlos Matias; Gatt, Miriam; Klungsoyr, Kari; Khoshnood, Babak; Latos-Bielenska, Anna; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rounding, Cath; Sipek, Antonin; Stoianova, Sylvia; Tucker, David; de Walle, Hermien; Yevtushok, Lyubov; Loane, Maria; Dolk, Helen

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determin

  9. Children with Anatomical Congenital Anomalies; a Portrait Follow-up over five years

    NARCIS (Netherlands)

    P. Mazer (Petra); S.J. Gischler (Saskia)

    2008-01-01

    textabstractAnnually some 5.000 newborns (2 - 3% of all births) in the Netherlands present with major anatomical congenital anomalies.140,395 The causes of most of these are still unknown. So far, genetic or chromosomal causes have been implicated in 13 - 14% of all anomalies,17,120,214,249,337 and

  10. Epidemiology of Multiple Congenital Anomalies in Europe : A EUROCAT Population-Based Registry Study

    NARCIS (Netherlands)

    Calzolari, Elisa; Barisic, Ingeborg; Loane, Maria; Morris, Joan; Wellesley, Diana; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bianchi, Fabrizio; Neville, Amanda J.; Budd, Judith L. S.; Klungsoyr, Kari; Khoshnood, Babak; McDonnell, Bob; Nelen, Vera; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Garne, Ester

    2014-01-01

    BackgroundThis study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010. MethodsEUROCAT implemented a computer algorithm for clas

  11. [Environmental and hygienic aspects of the prevalence of congenital anomalies in Primorskiĭ territory].

    Science.gov (United States)

    Kiku, P F; Voronin, S V; Gel'tser, B I; Anan'ev, V Iu

    2011-01-01

    The authors have conducted an environmental and hygienic evaluation of the prevalence of congenital anomalies in the Primorye Territory. It has been found that there is a considerable rise in congenital anomalies in children and adolescents, which is predicted for the coming 5 years. The prevalence of congenital anomalies in the region depends on the bioclimatic zone and environmental situation. The highest incidence of the pathology is observed in the children living in the coastal bioclimatic zone and in the adolescents in the critical environmental areas of the continental bioclimatic zone. A combination of sanitary-and-hygienic and natural climatic factors was found to influence the incidence of congenital malformations differently. The sanitary-and-hygienic parameters of an inhabitancy play a leading role (44.5-63.1%).

  12. Selective Serotonin Reuptake Inhibitor (SSRI) Antidepressants in Pregnancy and Congenital Anomalies

    DEFF Research Database (Denmark)

    Jordan, Sue; Morris, Joan K; Davies, Gareth I;

    2016-01-01

    BACKGROUND: Hypothesised associations between in utero exposure to selective serotonin reuptake inhibitors (SSRIs) and congenital anomalies, particularly congenital heart defects (CHD), remain controversial. We investigated the putative teratogenicity of SSRI prescription in the 91 days either side......-analyses. SSRI prescription 91 days either side of LMP was associated with increased prevalence of severe congenital heart defects (CHD) (as defined by EUROCAT guide 1.3, 2005) (34/12,962 [0.26%] vs. 865/506,155 [0.17%] OR 1.50, 1.06-2.11), and the composite adverse outcome of 'anomaly or stillbirth' (473...... of first day of last menstrual period (LMP). METHODS AND FINDINGS: Three population-based EUROCAT congenital anomaly registries- Norway (2004-2010), Wales (2000-2010) and Funen, Denmark (2000-2010)-were linked to the electronic healthcare databases holding prospectively collected prescription information...

  13. Changes in the Incidence of Congenital Anomalies in Henan Province, China, from 1997 to 2011.

    Directory of Open Access Journals (Sweden)

    Lei Xia

    Full Text Available To investigate changes in incidence and characteristics of congenital anomalies in infants in Henan Province of China over a period of 15 years.Population-based surveillance in Henan Province was conducted from 1997 to 2011 in 75 hospitals (40 urban districts and 35 rural counties, comprising about 20% of the total births. Basic population information was obtained from the healthcare network. All live births, intrauterine deaths after 28 weeks, and stillbirths were included. Congenital anomalies were diagnosed and reported to Henan Provincial Maternal and Pediatric Healthcare Hospital.Of 1,815,920 births from 1997 to 2011, 15,660 cases of congenital anomalies were identified, resulting in an average incidence of 86.2 cases per 10,000 births. The incidence of congenital anomalies showed a significant downward trend (p < 0.0001 in rural areas and the whole province (p < 0.0001, but an increase in urban areas (p = 0.003. The incidence was much higher in rural than in urban areas in 1997, but this discrepancy decreased rapidly and no difference was seen between rural and urban areas in 2003. The incidence in females was higher than in males in 1997-1999 but decreased to a similar level as that in males in 2000. Maternal age exceeding 35 years was associated with a higher incidence of congenital anomalies. Among the 23 types of congenital anomalies recorded, neural tube defects were the most common; the incidence declined from 39.3 cases per 10,000 births in 1997 to 6.1 cases per 10,000 births in 2011.The incidence of congenital anomalies has decreased in Henan Province over the past 15 years due to significant reductions in rural areas and among girls. This decrease was partly related to a reduction in neural tube defects that was likely the result of a folic acid intervention in the province.

  14. Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

    Energy Technology Data Exchange (ETDEWEB)

    Dong, Su-Zhen; Zhu, Ming [Shanghai Jiaotong University School of Medicine, Department of Radiology, Shanghai Children' s Medical Center, Shanghai (China)

    2015-05-01

    Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

  15. Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.

    Science.gov (United States)

    Morris, Joan K; Garne, Ester; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Budd, Judith; Dias, Carlos Matias; Gatt, Miriam; Klungsoyr, Kari; Khoshnood, Babak; Latos-Bielenska, Anna; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rounding, Cath; Sipek, Antonin; Stoianova, Sylvia; Tucker, David; de Walle, Hermien; Yevtushok, Lyubov; Loane, Maria; Dolk, Helen

    2014-12-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were significantly more likely to have a cardiac anomaly compared to male babies (47.6% compared with 40.4%, P Down syndrome has remained constant, suggesting that population screening for Down syndrome and subsequent terminations has not influenced the prevalence of specific congenital anomalies in these babies.

  16. [Congenital anomalies of the excretory system and their relationship to endemic nephropathy].

    Science.gov (United States)

    Tanchev, I

    1975-01-01

    The author has studied the congenital anomalies of the urogenital system according to the clinical data of the Nephrology Ward, District Hospital--Vratza, by means of urography, ascending pyelography and reno-vasography. A total of 1960 patients were examined and congenital anomalies of the urogenital system established in 167 (8, 5%). Congenital anomalies of the excretory system, according to the author, are more often met in females (59, 9%) as compated with males (40, 1%) and in left kidney (58, 6%) as compared with the right one (35, 9%). At the same time, the most frequent complication of renal embryopathies was established to be the inflammation process of urinary ducts and kidneys (41, 9%) urinary-calculus disease (19.1%) and endemic nephropathy (8, 9%). The combination of endemic nephropathy and congenital anomalies of the urogenital system is rare (1, 1%) and most likely by chance. The author admits that endemic nephropathy most probably is not causality with the congenital anomalies of the excretory system.

  17. Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials.

    Science.gov (United States)

    Rasmussen, Sonja A; Hernandez-Diaz, Sonia; Abdul-Rahman, Omar A; Sahin, Leyla; Petrie, Carey R; Keppler-Noreuil, Kim M; Frey, Sharon E; Mason, Robin M; Nesin, Mirjana; Carey, John C

    2014-12-15

    In 2011 and 2012, the Division of Microbiology and Infectious Diseases at the National Institute of Allergy and Infectious Diseases, National Institutes of Health, held a series of meetings to provide guidance to investigators regarding study design of clinical trials of vaccines and antimicrobial medications that enroll pregnant women. Assessment of congenital anomalies among infants born to women enrolled in these trials was recognized as a challenging issue, and a workgroup with expertise in epidemiology, pediatrics, genetics, dysmorphology, clinical trials, and infectious diseases was formed to address this issue. The workgroup considered 3 approaches for congenital anomalies assessment that have been developed for use in other studies: (1) maternal report combined with medical records review, (2) standardized photographic assessment and physical examination by a health professional who has received specific training in congenital anomalies, and (3) standardized physical examination by a trained dysmorphologist (combined with maternal interview and medical records review). The strengths and limitations of these approaches were discussed with regard to their use in clinical trials. None of the approaches was deemed appropriate for use in all clinical trials. Instead, the workgroup acknowledged that decisions regarding the optimal method of assessment of congenital anomalies will likely vary depending on the clinical trial, its setting, and the agent under study; in some cases, a combination of approaches may be appropriate. The workgroup recognized the need for more research on approaches to the assessment of congenital anomalies to better guide investigators in optimal design of clinical trials that enroll pregnant women.

  18. A STUDY OF CRANIOFACIAL CONGENITAL ANOMALIES IN THE MALWA REGION (MADHYA PRADESH

    Directory of Open Access Journals (Sweden)

    Seema

    2016-02-01

    Full Text Available Development of foetus is a complex chain of events, millions of factors affect it. The rapid decline in the infant mortality & morbidity in the developed countries has focused the attention of pediatricians on the problems of congenital malformations. It is impossible to know all the factors at this juncture. But so far we have come to know some factors responsible for these congenital malformations. A study was done to detect various craniofacial congenital anomalies in Malwa region (M.P. with the aim to know various etiological factors and to emphasize importance of early treatment to prevent disfigurement and functional defects; 120 patients with craniofacial congenital anomalies attending government and private hospitals of the Indore city during the period of 01/06/2009 to 31/12/2010 were taken for the study. These patients were examined for different craniofacial congenital anomalies. A detailed history and examination was carried out to evaluate relationship of sex, religion, socioeconomic status, environmental factors, maternal age, parity, occupation of parents with various craniofacial anomalies. We detected various craniofacial congenital anomalies ranging from cleft lip and palate, ear deformities, macrostoma, nose deformities, ptosis, facial nerve paralysis and vascular malformations. Most common anomaly was cleft lip and palate followed by haemangioma, hairy naevus, ear deformities and ptosis. These anomalies were significantly high in children belonging to low socioeconomic group. Exposure of pregnant mothers to agricultural chemicals and smoking were other significant factors. This study also shows that incidence of cleft lip and palate was relatively high in children who were born to mothers having age less than 20 years.

  19. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies

    DEFF Research Database (Denmark)

    Wemakor, A.; Casson, K.; Garne, E.

    2015-01-01

    Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy...... % CI 1.67-6.75, n=9), and Ebstein's anomaly (OR 8.23, 95 % CI 2.91-23.28, n=4) were detected. Statistically significant associations between SSRI and four of the 15 non- CHDsignals (anorectal atresia and stenosis, gastroschisis, renal dysplasia, clubfoot) were found. In all the statistically...

  20. Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers

    DEFF Research Database (Denmark)

    de Jonge, Linda; Garne, Ester; Gini, Rosa;

    2015-01-01

    INTRODUCTION: Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription...... databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies. METHODS: We linked data from primary care and prescription databases to five European Surveillance....... CONCLUSION: Linkage of primary care or prescription databases to CA registries improved the quality of information on maternal use of medicines in pregnancy, especially for medicine groups that are less fully registered in CA registries....

  1. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

    Science.gov (United States)

    Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog.

  2. Maternal cancer and congenital anomalies in children – a Danish nationwide cohort study

    Science.gov (United States)

    Momen, Natalie C.; Ernst, Andreas; Arendt, Linn Håkonsen; Olsen, Jørn; Li, Jiong; Gissler, Mika; Rasmussen, Finn; Ramlau-Hansen, Cecilia Høst

    2017-01-01

    Several studies on pregnancy-associated cancers have suggested an association with congenital anomalies in offspring. Previous studies have included maternal cancers diagnosed up to 2 years after pregnancy; however, long latency periods of some cancers mean that cancers diagnosed many years postpartum might have been present during pregnancy in a preclinical state. This paper considers the association between maternal cancers diagnosed from 2 years prior to pregnancy until the mother reaches 50 years of age, and congenital anomalies, as diagnosed at birth or within the first year of life. The current population-based study looks at associations of cancers in mothers with congenital anomalies in their children. Children were followed up from birth to diagnosis of a congenital anomaly, death, emigration or end of follow-up (whichever occurred first). A total of 56,016 children (2.6%) were considered exposed to a maternal cancer of any type; and they had a hazard ratio (HR) of 1.04 (95% confidence interval [CI]: 1.00, 1.09) compared with unexposed children. The greatest HR was seen among children whose mothers had been diagnosed with cancers before or during pregnancy (HR: 1.37, 95% CI: 1.07, 1.75). Similar results were seen when paternal cancers were used as a ‘negative control’. Statistically significant associations were seen for some specific congenital anomalies of organ systems (congenital anomalies of the musculoskeletal system [HR: 1.13, 95% CI: 1.02, 1.25]) and for some specific types of maternal cancer (leukaemia [HR: 1.31, 95% CI: 1.01, 1.61], The results of the main analyses suggest a small increase in risk of congenital anomalies in offspring of mothers diagnosed with cancer from 2 years before pregnancy, until the mother reaches 50 years of age; with the greatest increase seen for exposure in the pre-pregnancy and pregnancy period. These results may reflect shared causes for some cancers and some congenital anomalies. The similar results seen for

  3. Non-occupational exposure to paint fumes during pregnancy and risk of congenital anomalies

    DEFF Research Database (Denmark)

    Hjortebjerg, Dorrit; Andersen, Anne-Marie Nybo; Garne, Ester

    2012-01-01

    Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population.......Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population....

  4. Increased risk of death with congenital anomalies in the offspring of male semiconductor workers.

    Science.gov (United States)

    Lin, Ching-Chun; Wang, Jung-Der; Hsieh, Gong-Yih; Chang, Yu-Yin; Chen, Pau-Chung

    2008-01-01

    Female workers in the semiconductor industry have higher risks of subfertility and spontaneous abortion, but no studies exploring male-mediated developmental toxicity have been published. This study aimed to investigate whether the offspring of male workers employed in the semiconductor manufacturing industry had an increased risk of death with congenital anomalies. The 6,834 male workers had been employed in the eight semiconductor companies in Taiwan between 1980 and 1994. We identified the live born children with or without congenital anomalies of the workers using the National Birth and Death Registries from the Department of Health, Taiwan. Multiple logistic regression models were used to estimate the odds ratios (OR) of birth outcomes and deaths, controlling for infant sex, maternal age, and paternal education. A total of 5,702 children were born to male workers during the period 1980-1994. There were increased risks of deaths with congenital anomalies (adjusted OR, 3.26; and 95% confidence interval [CI], 1.12-9.44) and heart anomalies (OR, 4.15; 95% CI, 1.08-15.95) in the offspring of male workers who were employed during the two months before conception. We found evidence of a possible link between paternal preconception exposure of semiconductor manufacturing and an increased risk of congenital anomalies, especially of the heart. The possible etiological basis needs to be corroborated in further research.

  5. Deviant early pregnancy maternal triglyceride levels and increased risk of congenital anomalies : a prospective community-based cohort study

    NARCIS (Netherlands)

    Nederlof, M.; de Walle, H. E. K.; van Poppel, M. N. M.; Vrijkotte, T. G. M.; Gademan, M. G. J.

    ObjectiveThe maternal lipid profile could be of importance in congenital anomaly development. This study therefore investigates whether the maternal lipid profile during early pregnancy is associated with major nonsyndromic congenital anomalies (MNCA). DesignProspective community-based cohort study.

  6. Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers : A EUROmediCAT Study

    NARCIS (Netherlands)

    de Jonge, Linda; Garne, Ester; Gini, Rosa; Jordan, Susan E.; Klungsoyr, Kari; Loane, Maria; Neville, Amanda J.; Pierini, Anna; Puccini, Aurora; Thayer, Daniel S.; Tucker, David; Hansen, Anne Vinkel; Bakker, Marian K.

    2015-01-01

    Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription databases. Linkage of

  7. Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern Netherlands

    NARCIS (Netherlands)

    Sikkens, EH; de Walle, HEK; Reefhuis, J; van Tintelen, JP; van Essen, AJ

    2002-01-01

    Children/fetuses born with a congenital anomaly are recorded in a local registry of congenital anomalies in the Northern Netherlands. Parents of these children/fetuses often have questions about cause, prognosis, and recurrence risk. Referral to a genetic clinic is one way to obtain information conc

  8. The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance : a descriptive study

    NARCIS (Netherlands)

    Meijer, Willemijn M.; Cornel, Martina C.; Dolk, Helen; de Walle, Hermien E. K.; Armstrong, Nicola C.; de Jong-van den Berg, Lolkje T. W.

    Background European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe surveying more than I million births per year, or 25% of the births in the European Union. This paper describes the potential of the EUROCAT collaboration for

  9. Paper 5 : Surveillance of Multiple Congenital Anomalies: Implementation of a Computer Algorithm in European Registers for Classification of Cases

    NARCIS (Netherlands)

    Garne, Ester; Dolk, Helen; Loane, Maria; Wellesley, Diana; Barisic, Ingeborg; Calzolari, Elisa; Densem, James

    BACKGROUND: Surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple

  10. A study of associated congenital anomalies with biliary atresia

    Directory of Open Access Journals (Sweden)

    Lucky Gupta

    2016-01-01

    Full Text Available Background/Purpose: This study aims to analyze the incidence and type of various associated anomalies among infants with extrahepatic biliary atresia (EHBA, compare their frequency with those quoted in the existing literature and assess their role in the overall management. Materials and Methods: A retrospective study was performed on 137 infants who underwent the Kasai procedure for EHBA during the past 12 years. The medical records were reviewed for the incidence and type of associated anomalies in addition to the details of the management of the EHBA. Results: Of the137 infants, 40 (29.2% were diagnosed as having 58 anomalies. The majority of patients had presented in the 3 rd month of life; mean age was 81 ± 33 days (range = 20-150 days. There were 32 males and 8 females; boys with EHBA had a higher incidence of associated anomalies. Of these 40 patients, 22 (37.9% had vascular anomalies, 13 patients (22.4% had hernias (umbilical-10, inguinal-3, 7 patients (12.1% had intestinal malrotation, 4 patients (6.8% had choledochal cyst, 1 patient (1.7% had Meckel′s diverticulum, 3 patients (5% had undergone prior treatment for jejunoileal atresias (jejunal-2, ileal-1, 2 patients (3.4% had undergone prior treatment for esophageal atresia and tracheoesophageal fistula, 2 patients (3.4% had spleniculi, and 2 patients (3.4% were diagnosed as having situs inversus. Conclusions: The most common associated anomalies in our study were related to the vascular variation at the porta hepatis and the digestive system. The existence of anomalies in distantly developing anatomic regions in patients with EHBA supports the possibility of a "generalized" insult during embryogenesis rather than a "localized" defect. In addition, male infants were observed to have significantly more associated anomalies as compared with the female infants in contrast to earlier reports.

  11. Congenital anomalies associated with trisomy 18 or trisomy 13

    DEFF Research Database (Denmark)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation......), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted...... in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had...

  12. Epidemiological Features of Congenital Anomalies in Tabriz District, a Population Based Study

    Directory of Open Access Journals (Sweden)

    Majid Karamooz

    2015-08-01

    Full Text Available Background and objectives : Congenital anomalies are responsible for a remarkable proportion of mortalities and morbidities of the newborn population. The aim of this study was to investigate the epidemiological features of birth defects in rural areas of Tabriz, northwest of Iran. Material and Methods : The study population comprised live births under 8 years old in Tabriz district. All health records of the children under 8 years old were evaluated. Results : Out of 22500 live births, we documented 254 cases with congenital anomalies. The prevalence rate of birth defects was 113 per 10000 births (95% CI: 99 to 126. Anomalies of the nervous system were the most common defects, accounting for 24% of birth defects. It was followed by the heart diseases anomalies and the eye/ear anomalies. The highest prevalence rate for birth defects was observed in the north-eastern region with 386 per 10000 live births (95% CI: 215 to 556 and the lowest prevalence rate was observed in the north-western region with 15 per 10000 live births     (95% CI: -14 to 45. Conclusion : The remarkable geographic disparities in the prevalence of birth defects in the region may indicate for a new investigation for the etiology of congenital anomalies.

  13. [Morphofunctional correlation in congenital anomalies of the coronary arteries. I. Coronary artery fistulas].

    Science.gov (United States)

    Rangel-Abundis, A; Muñoz-Castellanos, L; Marín, G; Chávez Pérez, E; Badui, E

    1994-01-01

    In order to explain the congenital coronary arteries malformations, the authors review the recent concepts on the coronary artery morphogenesis, based in the findings that in the human embryo, these arteries evolve from three sources: 1) endothelial aortic buds, 2) cavitary cellular groups from pericardial origin and with angiogenic character, which migrate to the cardiac zones where the coronary arteries will be distributed, and 3) the intramyocardial sinusoids. The anatomic and histologic cardiac alterations will be reflected in modifications of the coronary artery pattern. The coronary artery fistulae are formed by the persistence of the sponge structure of the myocardial wall, present in the early ontogenic steps of the cardiac development; such fistulae alter the normal functions of the coronary vascular tree and are capable to cause angina pectoris to the patient through diverse mechanisms: absence of capillarization, steal phenomenon aggravated by the altered coronary arteries properties when aneurysm or vascular channels are developed. The authors suggest a classification of the congenital coronary arteries anomalies: I. Anomalous origin in the sinus of Valsalva (anomalous and ectopic origin), II. Malformations of the coronary branches (in number, distribution and wall anomalies) and III. Anomalous connection of the coronary arteries: fistulae and persistence of the intramyocardial sinusoids isolated or communicated to left and right ventricles. The latter are frequently associated with aortic or pulmonary valve atresia. They do not cause myocardial ischemia and are formed secondary to the intracavitary elevated pressure which maintained the persistence, dilatation and communication of the ventricular chambers with such sinusoids and coronary arteries in the case of pulmonary valve atresia and with coronary veins in the case of aortic valve atresia.

  14. Use of low birth weight as selecting criterion for the routine surveillance of congenital anomalies of infectious origin.

    Directory of Open Access Journals (Sweden)

    Antonio José Bermúdez

    2009-11-01

    Full Text Available Introduction: Surveillance of congenital anomalies receives importance in the world-wide context of eradicating the congenital rubella syndrome. Objective: To identify the congenital anomalies and to consider the low birth weight  a criterion to test IgM for the complex TORCH. Methodology: Surveillance of the congenital specific and non specific anomalies of the congenital rubella syndrome(CRS and low birth weight in ten hospitals. It was considered as case, everything new born with some congenital anomaly or low weight for the gestational age. Serum tests for rubella, toxoplasmosis, citomegalovirus, herpes and parvovirus were practiced. For the negative cases cariotype was performed. Results: A total of 840 cases were selected, 669 by low weight for the gestational age, 52 by anomalies not related to CRS, 52; by anomalies that could be related to the CRS, 105. The most frequent anomalies were congenital heart diseases,  5.1%; hepatosplenomegalies, 3.9%; and microcephalies, 1.2%. There were confirmatory IgM titles for rubella in 0.5% of cases; toxoplasmosis 1.4%; citomegalovirus 1.5%; parvovirus 1.2%; herpes 0.5%; and positive test for congenital syphilis, 3.7%. In total there were 8.8% positive results for any congenital infectious disease. The relative risk for low birth weight having IgM positive rubella was RR = 2.83 (IC: 1.26:6.36-0.95. Discussion and conclusions: The surveillance for CRS, through the monitoring of febrile in the first year and by the presence of some specific congenital anomalies, could be improved in sensitivity by means of the routine monitoring of congenital anomalies, with the inclusion of low birth weight, like a selecting criterion to study the infectious agents.

  15. The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs : A Literature Review

    NARCIS (Netherlands)

    de Jong, Josta; Garne, Ester; Jong-van den Berg, de Lolkje; Wang, Hao

    2016-01-01

    BACKGROUND: More information is needed about possible associations between the newer anti-epileptic drugs (AEDs) in the first trimester of pregnancy and specific congenital anomalies of the fetus. OBJECTIVES: We performed a literature review to find signals for potential associations between newer A

  16. The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs : A Literature Review

    NARCIS (Netherlands)

    de Jong, Josta; Garne, Ester; Jong-van den Berg, de Lolkje; Wang, Hao

    BACKGROUND: More information is needed about possible associations between the newer anti-epileptic drugs (AEDs) in the first trimester of pregnancy and specific congenital anomalies of the fetus. OBJECTIVES: We performed a literature review to find signals for potential associations between newer

  17. Contribution of Congenital Anomalies to Preterm Birth Risk in the Netherlands: poster presentation

    NARCIS (Netherlands)

    Mohangoo1, A.; Lanting, C.; Bennebroek Gravenhorst, J.; Verloove-Vanhorick, P.; Buitendijk, S.

    2010-01-01

    Objective: To asses the extents to which congenital anomalies affect risk of preterm birth. Methods: For the present study, we analysed data on 1,972,058 newborns registered in the Netherlands Perinatal Registry database (inclusion criteria 16 weeks of gestation). Logistic regression techniques were

  18. Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

    DEFF Research Database (Denmark)

    Dolk, Helen; Wang, Hao; Loane, Maria

    2016-01-01

    OBJECTIVE: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA). METHODS: This was a population-based case-malformed control study based on 21 EUROCAT CA registries coveri...

  19. Contribution of Congenital Anomalies to Preterm Birth Risk in the Netherlands: poster presentation

    NARCIS (Netherlands)

    Mohangoo1, A.; Lanting, C.; Bennebroek Gravenhorst, J.; Verloove-Vanhorick, P.; Buitendijk, S.

    2010-01-01

    Objective: To asses the extents to which congenital anomalies affect risk of preterm birth. Methods: For the present study, we analysed data on 1,972,058 newborns registered in the Netherlands Perinatal Registry database (inclusion criteria 16 weeks of gestation). Logistic regression techniques were

  20. Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities.

    Science.gov (United States)

    Bellamkonda-Athmaram, V; Sulman, C G; Basel, D G; Southern, J; Konduri, G G; Basir, M A

    2014-04-01

    Alveolar capillary dysplasia is a rare and fatal disease of newborn infants. Here we describe a patient with alveolar capillary dysplasia, multiple congenital anomalies, a novel genetic mutation and previously undocumented airway findings on bronchoscopy. Knowledge of these associations may help diagnose this rare disorder in neonates with hypoxemic respiratory failure.

  1. The Study of Congenital Anomalies Resulting in Legal Termination of Pregnancy in Iran

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    Saeid Dastgiri

    2015-08-01

    Full Text Available Background and objectives : Safe pregnancy is among the goals and missions of reproductive health which has an important part in Millennium Development Goals. Unfortunately, bad conditions in reproductive health are the major cause of women mortality in fertility age all over the world especially in developing countries. Congenital anomalies are pregnancy problems that in case of early diagnosis, the anomaly will be done according to list 51. The aim of this study was to determine families’ demographic situations, frequency of congenital anomalies types and the factors of legally termination of pregnancy to suggest solutions in order to reduce anomalies and promote reproductive health. Material and Methods : This is a case-control study carried out for 1 year period from 2010 to 2011 in which 603 pregnant women that were diagnosed/recommended to the Legal Medicine Organization for the termination of pregnancy as having a fetus with some types of birth defect(s. Among them, 201 were categorized as case group (receiving termination permission because their pregnancy was before week 20 and 402 of them were categorized as control group 1 (not receiving termination permission because their pregnancy was after week 20 and 200 women as control group 2 who referred to Alzahra hospital to give childbirth. A questionnaire containing demographic and geographical information was made for all the women in those three groups. Results : The average age of mothers in this study was 27.2 years (15-47 years old. In 100 % of women, at least 1 ultrasound examination was performed and genetic and Amniocentesis tests were conducted in 2.1 % and 3.5 % respectively in order to diagnose anomaly. In total, 33 % of pregnant women with congenital anomalies received pregnancy termination permission. The majority of congenital anomalies were neural tube defects 16.9 %, hydrocephaly 8.6 %, limb deformation 7.7 % and Down syndrome 6.4 %. Mother’s age, the history of

  2. Pentalogy of Cantrell: An Extremely Rare Congenital Anomaly

    Science.gov (United States)

    Chandran, Suresh; Ari, Dinesh

    2013-01-01

    A baby with the complete form of pentalogy of Cantrell was delivered at 33 weeks of gestation. The hallmark of this syndrome is ectopia cordis (EC) with omphalocele. Even though a fetal diagnosis was made at 14 weeks, parents have decided to continue with the pregnancy. Early antenatal ultrasonographic diagnosis is essential as survival depends mostly on the EC, associated cardiac anomalies and degree of thoraco-abdominal defect. Fetal diagnosis of this lethal anomaly before viability gives the parents an option of termination. PMID:24049753

  3. DANDY-WALKER MALFORMATION: A RARE CONGENITAL ANOMALY

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    Uroos

    2014-08-01

    Full Text Available Dandy Walker Malformation (DWM is a congenital malformation involving the cerebellum and fluid filled spaces around it. A key feature of this syndrome is partial or complete absence of a part of brain located between two cerebellar hemispheres ie. cerebellar vermis.(1 Dandy walker malformation was originally described in 1887 by Sutton and further characterized by Dandy and Blackfan in 1914 followed by Tagart and Walker in 1942. Benda finally labeled this disease as Dandy Walker in 1954. (2 Since the original description, additional studies have reported on various morphological features of this syndrome. It is a genetically sporadic disorder that occurs one in every 30,000live births. (3 Because of its rarity, here we report a case of DWM, in a fetus in which the diagnosis was made prenatally on USG. Later on, MTP was done by expulsion. Fetus was sent for autopsy to rule out other associated congenital abnormalities

  4. Preferential associations between oral clefts and other major congenital anomalies

    NARCIS (Netherlands)

    Rittler, Monica; Lopez-Camelo, Jorge S.; Castilla, Eduardo E.; Bermejo, Eva; Cocchi, Guido; Correa, Adolfo; Csaky-Szunyogh, Melinda; Danderfer, Ron; De Vigan, Catherine; De Walle, Hermien; da Graca Dutra, Maria; Hirahara, Fumiki; Luisa Martinez-Frias, Maria; Merlob, Paul; Mutchinick, Osvaldo; Ritvanen, Annukka; Robert-Gnansia, Elisabeth; Scarano, Gioacchino; Siffel, Csaba; Stoll, Claude; Mastroiacovo, Pierpaolo

    2008-01-01

    Objectives: To identify preferential associations between oral clefts (CL = cleft lip only, CLP = cleft lip with cleft palate, CP = cleft palate) and nonoral cleft anomalies, to interpret them on clinical grounds, and, based on the patterns of associated defects, to establish whether CL and CLP are

  5. Lumbar disc herniation in a patient with congenital vertebral body anomaly: a case report.

    Science.gov (United States)

    Atabey, Cem; Eroğlu, Ahmet; Topuz, Ali Kivanc; Velioğlu, Murat; Demircan, Mehmet Nusret

    2014-12-01

    Lumbar disc herniation is characterized with low back and leg pain resulting from the degenerated lumbar disc compressing the spinal nerve root. The etiology of degenerative spine is related to age, smoking, microtrauma, obesity, disorders of familial collagen structure, occupational and sports-related physical activity. However, disc herniations induced by congenital lumbar vertebral anomalies are rarely seen. Vertebral fusion defect is one of the causes of congenital anomalies. The pathogenesis of embryological corpus vertebral fusion anomaly is not fully known. In this paper, a 30-year-old patient who had the complaints of low back and right leg pain after falling from a height is presented. She had right L5-S1 disc herniation that had developed on the basis of S1 vertebra corpus fusion anomaly in Lumbar computed tomography. This case has been discussed in the light of literature based on evaluations of Lumbar Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). This case is unique in that it is the first case with development of lumbar disc herniation associated with S1 vertebral corpus fusion anomaly. Congenital malformations with unusual clinical presentation after trauma should be evaluated through advanced radiological imaging techniques.

  6. Exploring risk perception and attitudes to miscarriage and congenital anomaly in rural Western Kenya.

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    Stephanie Dellicour

    Full Text Available BACKGROUND: Understanding the socio-cultural context and perceptions of adverse pregnancy outcomes is important for informing the best approaches for public health programs. This article describes the perceptions, beliefs and health-seeking behaviours of women from rural western Kenya regarding congenital anomalies and miscarriages. METHODS: Ten focus group discussions (FGDs were undertaken in a rural district in western Kenya in September 2010. The FGDs included separate groups consisting of adult women of childbearing age, adolescent girls, recently pregnant women, traditional birth attendants and mothers of children with a birth defect. Participants were selected purposively. A deductive thematic framework approach using the questions from the FGD guides was used to analyse the transcripts. RESULTS: There was substantial overlap between perceived causes of miscarriages and congenital anomalies and these were broadly categorized into two groups: biomedical and cultural. The biomedical causes included medications, illnesses, physical and emotional stresses, as well as hereditary causes. Cultural beliefs mostly related to the breaking of a taboo or not following cultural norms. Mothers were often stigmatised and blamed following miscarriage, or the birth of a child with a congenital anomaly. Often, women did not seek care following miscarriage unless there was a complication. Most reported that children with a congenital anomaly were neglected either because of lack of knowledge of where care could be sought or because these children brought shame to the family and were hidden from society. CONCLUSION: The local explanatory model of miscarriage and congenital anomalies covered many perceived causes within biomedical and cultural beliefs. Some of these fuelled stigmatisation and blame of the mother. Understanding of these beliefs, improving access to information about the possible causes of adverse outcomes, and greater collaboration between

  7. Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region

    National Research Council Canada - National Science Library

    Gimeno-Martos, S; Cavero-Carbonell, C; López-Maside, A; Bosch-Sánchez, S; Martos-Jiménez, C; Zurriaga, O

    2016-01-01

    ...) in the Valencia Region, in less than one year olds, during the period 2007-2011. Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA...

  8. RISK FACTORS DISTRIBUTION FOR CONGENITAL ANOMALIES IN ISFAHAN POPULATION: 1998-1999

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    H DAVARI

    2003-09-01

    Full Text Available Introduction: Congenital anomalies are a wide category of congenital diseases that have non Genetically cause in about 20 percent of cases. Environmental and teratogenic factors during pregnancy period have main role in these events. Any information a bout the risk distribution of these factors in community is useful and important for health qualifying. Methods: In a case-control study, 500 neonates suffered from congenital anomalies were compared to 2000 healthy neonates matched to cases. Data was collected via a questionnaire completed by interview to neonates mothers. Drug history, vaginal bleeding, X-ray exposure, any infectious disease or febrile status and exposure to trauma during pregnancy, history of familiar marriage and positive family history for congenital anomalies were collected. Data was documented in some doubtful matter by referring to medical documents. Odd's ratio was estimated for every risk factor. Results: Familial marriage was 40.2 percent in cases and 21.2 percent in control group (OR=2. 5. History of vaginal bleeding positive drug history, any febrile status and positive history of trauma in cases group was 10.6, 24.3, 14.7 and 10 percent, respectively. These events were reported in control group about 3.5, 4.7, 1.9 and 1 percent, respectively. Odd's ratios were estimated 3.2, 6.5, 8.9, 10.1 for these four subjects, respectively. Positive family history was reported in 23.3 percent of cases to comparison to control group 3.9 percent (OR=7.5. Discussion: It seems that congenital anomalies in our community need more attention about their risk factors control. Health education and primary prevention have a major role in this subject.

  9. Congenital Anomalies: Public Health Interventions to Ensure its Prevention and Expansion of Care to the Patients

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    Saurabh RamBihariLal Shrivastava

    2015-03-01

    Full Text Available Congenital anomalies can be defined as structural or functional anomalies, including metabolic / biochemical disorders, which are present at the time of birth. Congenital anomalies has been recognized as a major public health concern, owing to its universal distribution, associated long-term disability; social stigma; emotional / psychological stress for the family members; increased medical expenditure; and burden on the health care delivery system and societies. To prevent the occurrence of congenital anomalies, due attention should be given to establishment of appropriate surveillance systems to record cases from both community and hospital settings; strengthening of public health system; promoting research to explore the etiological factors and diagnosis/prevention strategies; fostering international cooperation; and discouraging the practice of consanguineous marriage / conception at an advanced age / further reproduction after birth of a malformed child. To conclude, there is an indispensable need to formulate a comprehensive policy, that should be well-supported by an efficient surveillance system, dedicated health care professionals and involvement of all stakeholders. [Cukurova Med J 2015; 40(1.000: 135-137

  10. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    DEFF Research Database (Denmark)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

    2012-01-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...... currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.246....

  11. [Cynocephali and Blemmyae. Congenital anomalies and medieval exotic races].

    Science.gov (United States)

    Bos, C A; Baljet, B

    1999-12-18

    In the mediaeval Dutch manuscript Der naturen bloeme ('On the flowers of nature') by Jacob van Maerlant (circa 1230-circa 1296), an encyclopaedia of descriptions of people, animals, plants and minerals dating from about 1270, many illustrations refer to the text. An intriguing part of the book is called 'Vreemde volkeren' ('Exotic people'). In another manuscript of Van Maerlant, Dit is die istory van Troyen ('The history of Troyes') in the chapter 'De wonderen van het Verre Oosten' ('The miracles of the Far East') the exotic people are also described. These exotic people have many features similar to congenital malformations. 'Hippopodes' are probably based on the lobster claw syndrome, 'Cynocephali' on anencephaly, 'Arimaspi' on cyclopia, 'Blemmyae' on acardiacus, the double-faced on diprosopus, 'Sciopods' on polydactyly and 'Antipodes' on the sirenomelia sequence.

  12. Congenital coronary artery anomalies: what about the young?

    Institute of Scientific and Technical Information of China (English)

    Phillip Moore

    2004-01-01

    @@ Drs. Rigatem, Rigatelli, and Trivellato present a complete retrospective review of the prevalence of congenital coronary abnormalities in a cohort of consecutive adult patients catheterized at their institution and compare them to younger patients < 65 years of age.They review in detail the clinical implications of these findings and then offer an algorithm for management. This article is particularly timely and significant as we move into an era of non-invasive coronary imaging with CT,MRI, and improved echo that will allow ns to make these diagnoses more often and with greater accuracy in younger patients. This will have a significant impact on the nanagement of symptomatic patients diagnosed at catheterization but also on asymptomatic patients diagnosed on screening evaluations.

  13. Low-dose fetal CT for evaluation of severe congenital skeletal anomalies: preliminary experience

    Energy Technology Data Exchange (ETDEWEB)

    Victoria, Teresa; Epelman, Monica; Johnson, Ann M.; Kramer, Sandra; Jaramillo, Diego [Children' s Hospital of Philadelphia, Diagnostic Imaging, Philadelphia, PA (United States); Bebbington, Michael [Children' s Hospital of Philadelphia, Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Wilson, R.D. [University of Calgary, Obstetrics and Gynecology, Calgary (Canada)

    2012-01-15

    Congenital skeletal abnormalities compose a heterogeneous and complex group of conditions that affect bone growth and development and result in various anomalies in shape and size of the skeleton. Prenatal sonographic diagnosis of these anomalies is challenging because of the relative rarity of each skeletal dysplasia, the multitude of differential diagnoses encountered when the bony abnormalities are identified, lack of precise molecular diagnosis and the fact that many of these disorders have overlapping features and marked phenotypic variability. The following review is a preliminary summary of our experience at the Children's Hospital of Philadelphia (CHOP) using low-dose fetal CT in the evaluation of severe fetal osseous abnormalities. (orig.)

  14. Impact of parental ages and other characteristics at childbearing on congenital anomalies: Results for the Czech Republic, 2000-2007

    Directory of Open Access Journals (Sweden)

    Jitka Rychtarikova

    2013-01-01

    Full Text Available BACKGROUND If the impact of maternal age at childbearing on congenital anomalies is well-known for the occurrence of Down syndrome, less is known concerning its effects on other major anomalies. Information is even scarcer for the possible effects of other maternal characteristics and of age of the father. OBJECTIVE We present new results on the associations between parental ages and other maternal characteristics, on the one hand, and congenital anomalies, on the other hand, using data linkage between three Czech registries on mother, newborn, and malformations, for the period 2000-2007. METHODS As the variables are in categorical format, binary logistic regression is used in order to investigate the relationship between presence/absence of a congenital anomaly, for each of the eleven types of anomalies considered, and the set of predictors. RESULTS This research confirms the impact of a higher age of the mother on Down syndrome and on other chromosomal anomalies. Paternal age is not associated with chromosomal anomalies and, in this Czech population, has a rather slight effect on some of the congenital anomalies examined. Another finding of the present study is the possible role of various other maternal characteristics on congenital malformations. CONCLUSIONS Based on a large data set, this study concludes that both parental ages can be associated with congenital anomalies of the child, and that maternal characteristics other than age have also to be considered. COMMENTS Risk factors can be tentatively proposed if they are based on a plausible and suitably tested explanatory mechanism. Unfortunately, in the majority of individual cases of congenital anomaly, the cause of the condition is still unknown and suspected to be an interaction of multiple environmental and genetic factors.

  15. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

    Science.gov (United States)

    Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

    2013-11-01

    The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

  16. STUDY OF ULTRASONOGRAPHIC EVALUATION OF CONGENITAL RENAL ANOMALIES AND THEIR PROGNOSTIC SIGNIFICANCE

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    Narendra Singh

    2016-06-01

    Full Text Available BACKGROUND Renal abnormalities are the most common disorder seen on ultrasound. Congenital abnormalities of the kidney and urinary tract occur in approximately 3.3-11.1% of the population and they account for about 50% of all congenital abnormalities. This study was done to assess the role of ultrasonography in early detection of malformation in foetal urinary tract and their proper management. If these anomalies are not diagnosed by prenatal ultrasound,many of these would manifest later in life as pyelonephritis, obstruction, stone formation, hypertension, or end-stage renal disease (ESRD. OBJECTIVES 1. To assess value of ultrasonography in evaluation of congenital renal malformation. 2. To determine the prognosis of ultrasonographically detected antenatal renal anomalies. 3. To counsel the couple in making reproductive decision in case of lethal abnormality. METHODS This study was conducted at MLB Medical College, Jhansi between January 2014 and August 2015. Of the total 4465 deliveries, screening was possible in 3945 (85% deliveries. All antenatal women were screened for renal anomalies by skilled sonologist between 20-37 weeks of gestation. All the babies in whom an abnormalities had been detected antenatally underwent repeat ultrasonography at the end of first week of life. RESULT In our study, we found that the prevalence of congenital renal anomalies among pregnant females was 0.63%. Among these anomalies (n=25, unilateral hydronephrosis (n=14 occurs in most of the cases. In case of isolated vesicoureteral reflux (n=3 grade II and grade III, unilateral reflux is more common and sepsis was prevented by giving early chemoprophylaxis in 2 cases. In case of posterior urethral valve (n=2, bilateral hydronephrosis occurs and early surgical intervention is required when the baby was born. Of the total 5 cases of unilateral empty renal fossa, pelvic kidney was found in 3 cases. In other 2 cases, kidney was in normal location, but in one it was

  17. Clinical Observation of Concomitant Congenital Heart Disease and Anomaly of the Urinary System in Adolescent

    Directory of Open Access Journals (Sweden)

    M.P. Limarenko

    2014-09-01

    Full Text Available The article presents the clinical observation of multiple malformations in a child: combination of congenital heart disease with an anomaly of the urinary system on the background of undifferentiated connective tissue dysplasia syndrome of maximum severity. This case report is of interest to pediatricians. Children with defects of the heart and urinary system often have other malformations, so in these patients it is important to conduct a full multisystem examination.

  18. Comparison of foetal US and MRI in the characterisation of congenital lung anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Alamo, Leonor, E-mail: leonor.alamo@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Reinberg, Olivier, E-mail: Olivier.reinberg@chuv.ch [Department of Pediatric Surgery, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Vial, Yvan, E-mail: Yvan.vial@chuv.ch [Unit of Prenatal Obstetric Diagnosis, Department of Gynecology and Obstetrics, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Gudinchet, François, E-mail: Francois.Gudinchet@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Meuli, Reto, E-mail: Reto.Meuli@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland)

    2013-12-01

    Objectives: To compare the accuracy of prenatal ultrasonography (US) to magnetic resonance imaging (MRI) in the characterisation of congenital lung anomalies, and to assess their agreement with final diagnosis. To evaluate the influence of additional MRI information on therapeutic management. Methods: 26 prenatal congenital lung anomalies detected consecutively between 2006 and 2012 were retrospectively evaluated. Lesions were initially observed at prenatal US and further investigated with MRI. Prenatal US and MRI imaging findings, and suggested diagnosis were compared with the final diagnosis, obtained from autopsies (4), pathological evaluation following surgical resection (15) and postnatal imaging studies (7). Results: Postnatal diagnoses included 7 congenital pulmonary airway malformations, 8 complex lesions, 7 overinflations, 1 sequestration, 1 bronchogenic cyst, 1 blastoma and 1 bilateral lymphangioma. Suggested prenatal US and MRI diagnosis was correct in 34.6% and 46.2% of patients, respectively, mainly isolated lung lesions with typical imaging findings. Nonspecific imaging findings at US and MRI studies were observed in 38.4% of cases. In 42% of the operated anomalies, pathological dissection revealed the presence of complex anomalies. MRI changed the US diagnosis, but not the further management in 9.7% of the lesions. Conclusions: Prenatal US and MRI showed a high accuracy in the diagnosis of isolated congenital lung lesions with typical imaging findings. However, overall characterisation rates were low, because of both a high percentage of complex lesions and of lesions with nonspecific imaging findings. MRI was better than US in characterising complex lesions, but its additional information did not influence therapy decisions.

  19. Conservative correction of uterine anomalies in cases of congenital and posttraumatic infertility.

    Science.gov (United States)

    Danezis, J; Soumplis, A; Papathanassiou, Z

    1978-01-01

    Uterine anomalies are due either to primary congenital malformations, or to secondary traumatic lesions of the intrauterine cavity as well as to pathology of the endometrium. The latter two etiologic factors create difficulties in the correct diagnosis of a congenital malformation and despite the convincing hysterosalpingographic findings a false diagnosis of a congenital malformation and despite the convincing hysterosalpingographic findings a false diagnosis is frequent. On the other hand the various degrees of uterine anomalies cannot always convince the gynecologist to undertake a plastic operation where the results for future fertility are doubtful. In our experience the extensive beneficial use of a variety of selected IUDs for the correction of intrauterine lesions also resulted in the correction of the size and shape of the uteri, previously diagnosed as malformed. The preliminary results of treatment in 110 cases of uterine anomalies after the application of a selected IUD combined with the administration of high doses of gestagens, showed an overall satisfactory improvement or complete reconstruction to a normal uterus in 86 (78%) of the cases. Higher fertility rate, better pregnancy outcome, correct diagnosis of the existing malformation, and safer decisions for further correction have also been attributed to the beneficial effects of the above treatment.

  20. Congenital anomalies in children exposed to antithyroid drugs in-utero: a meta-analysis of cohort studies.

    Directory of Open Access Journals (Sweden)

    Huixia Li

    Full Text Available Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs. However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero.Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs and confidence intervals (CIs for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I2 tests.Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU, methimazole/carbimazole (MMI/CMZ, and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42, 1.64 (95%CI: 1.39-1.92, and 1.83 (95%CI: 1.30-2.56 for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively.The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly.

  1. Haploinsufficiency of TAB2 causes congenital heart defects in humans

    DEFF Research Database (Denmark)

    Thienpont, Bernard; Zhang, Litu; Postma, Alex V;

    2010-01-01

    Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25. Genotype-phenotype correlations in 12 patients carrying a chromosomal deletion...... in cardiac development was further supported by its conserved expression in the developing human and zebrafish heart. Moreover, a critical, dosage-sensitive role during development was demonstrated by the cardiac defects observed upon titrated knockdown of tab2 expression in zebrafish embryos...

  2. Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Mayo Sonia

    2010-11-01

    Full Text Available Abstract Background The ultraconserved elements (UCEs are defined as stretches of at least 200 base pairs of human DNA that match identically with corresponding regions in the mouse and rat genomes, albeit their real significance remains an intriguing issue. These elements are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development. Interestingly, human UCEs have been reported to be strongly depleted among segmental duplications and benign copy number variants (CNVs. However no comprehensive survey of a putative enrichment of these elements among pathogenic dose variants has yet been reported. Results A survey for UCEs was performed among the 26 cryptic genomic rearrangements detected in our series of 200 patients with idiopathic neurodevelopmental disorders associated to congenital anomalies. A total of 29 elements, out of the 481 described UCEs, were contained in 13 of the 26 pathogenic gains or losses detected in our series, what represents a highly significant enrichment of ultraconserved elements. In addition, here we show that these elements are preferentially found in pathogenic deletions (enrichment ratio 3.6 vs. 0.5 in duplications, and that this association is not related with a higher content of genes. In contrast, pathogenic CNVs lacking UCEs showed almost a threefold higher content in genes. Conclusions We propose that these elements may be interpreted as hallmarks for dose-sensitive genes, particularly for those genes whose gain or loss may be directly implied in neurodevelopmental disorders. Therefore, their presence in genomic imbalances of unknown effect might be suggestive of a clinically relevant condition.

  3. Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies.

    Science.gov (United States)

    Elmann, Solly; Hanson, Sarah A; Bunce, Christopher N; Shinder, Roman

    2015-01-01

    A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors' knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement.

  4. Application of magnetic resonance urography in diagnosis of congenital urogenital anomalies in children.

    Science.gov (United States)

    Payabvash, Seyedmehdi; Kajbafzadeh, Abdol-Mohammad; Saeedi, Parisa; Sadeghi, Zhina; Elmi, Azadeh; Mehdizadeh, Mehrzad

    2008-09-01

    Magnetic resonance urography (MRU) has become a useful adjuvant in evaluating urogenital anomalies. In present study, we evaluated the ability of MRU in diagnosis of different congenital urogenital anomalies when the results of conventional imaging modalities were inconclusive. A total of 90 children were included in this series. The children were evaluated with T2-weighted and contrast-enhanced T1-weighted MRU sequences. The results were compared with findings obtained with ultrasonography, intravenous urography, renal nuclide scan, and voiding cystourethrography. MRU was requested in these children because conventional imaging modalities were equivocal or a co-existing urogenital anomaly was suspected. Only those cases that underwent surgery were included in this study and the surgical findings were set as the reference standard in statistical evaluation. The records of 61 boys with mean (range) age of 2.3 years (2 months-12 years) and 29 girls with mean (range) age of 3.3 years (3 months-12 years) were reviewed. The final diagnosis was ureteropelvic junction obstruction (n = 25), vesicoureteral junction obstruction (n = 16), ureterocele (n = 19), ectopic kidney (n = 11), posterior urethral valve (n = 17), and polycystic kidney (n = 2). The overall sensitivity of MRU, intravenous urography, renal nuclide scan, ultrasonography, and voiding cystourethrography in diagnosis of the aforementioned anomalies were 86, 63, 50, 44, and 41%, respectively. MRU was much more sensitive than other imaging modalities in diagnosis of end-ureteral dilation (100%) and ureterocele (89%). MRU provides a reliable noninvasive technique for imaging of the congenital anomalies in the urinary tract of children with T2-weighted MRU sequences providing unenhanced static-water images of the urinary tract as well as depicting adjacent soft-tissue lesions, and T1-weighted MRU technique imitating conventional intravenous urography. Both MRU sequences can be combined for a comprehensive

  5. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Guillermo Lay-Son

    2015-04-01

    Full Text Available OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm HD Array, Affymetrix, Inc., Santa Clara, CA, USA. Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.

  6. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies: A European register-based study in 12 European countries

    NARCIS (Netherlands)

    Wemakor, A.; Casson, K.; Garne, E.; Bakker, Marian; Tucker, D.; Khoshnood, B.; Nelen, V.; O'Mahoney, M.; Pierini, A.; Klungsoyr, K.; Gatt, M.; Addor, C.M.; Rissmann, A.; Arriola, L.; Boyle, B.; De Jong-Van Den Berg, L.; Dolk, H.

    2015-01-01

    Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between fir

  7. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies: A European register-based study in 12 European countries

    NARCIS (Netherlands)

    Wemakor, A.; Casson, K.; Garne, E.; Bakker, Marian; Tucker, D.; Khoshnood, B.; Nelen, V.; O'Mahoney, M.; Pierini, A.; Klungsoyr, K.; Gatt, M.; Addor, C.M.; Rissmann, A.; Arriola, L.; Boyle, B.; De Jong-Van Den Berg, L.; Dolk, H.

    2015-01-01

    Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between

  8. The OMT Classification of Congenital Anomalies of the Hand and Upper Limb.

    Science.gov (United States)

    Tonkin, Michael A; Oberg, Kerby C

    2015-10-01

    The Oberg, Manske and Tonkin (OMT) Classification of congenital anomalies of the hand and upper limb uses dysmorphological terminology, placing conditions in one of three groups: Malformations, Deformations and Dysplasias. The main group, Malformations, is further subdivided according to whether the whole of the limb is affected or the hand plate alone, and whether the primary insult involves one of the three axes of limb development and patterning or is non-axial. The common surgical diagnoses, such as thumb duplication and thumb hypoplasia, are then placed within this framework. Recently the International Federation of Societies for Surgery of the Hand Scientific Committee for Congenital Conditions approved the OMT Classification as a timely and appropriate replacement of the previously accepted Swanson Classification. This review charts the development of and modifications to the OMT Classification and its current status.

  9. Absence of prenatal ultrasound surveillance: Data from the Portuguese congenital anomalies registry.

    Science.gov (United States)

    Correia, Sandrina; Machado, Ausenda; Braz, Paula; Rodrigues, Ana Paula; Matias-Dias, Carlos

    2016-06-01

    In Portugal, prenatal care guidelines advocate two prenatal ultrasound scans for all pregnant women. Not following this recommendation is considered inadequate prenatal surveillance. The National Registry of Congenital Anomalies (RENAC in Portuguese) is an active population-based registry and an important instrument for the epidemiological surveillance of congenital anomalies (CA) in Portugal. Regarding pregnancies with CA, this study aims to describe the epidemiology of absent prenatal ultrasound scans and factors associated with this inadequate surveillance. A cross-sectional comparative study from 2008 to 2013 was carried out using data from RENAC. Associations of nonuptake of prenatal ultrasound screening with socio-demographic health behaviors and obstetric history data were evaluated using multiple logistic regression. Potential confounders were investigated and included if they changed the crude odds ratio estimate by at least 10% after adjustment by the Mantel-Haenszel method. The statistical significance level was set at 5%. Overall, 6090 notifications of congenital anomalies were reported to RENAC, and 2% of the pregnant women reported no prenatal ultrasound screening surveillance. These women were on average aged 30.0 years, and 52.8% had no professional occupation. The odds of not performing an ultrasound scan during their pregnancy increased 2.47 times with lack of professional activity, 4.67 times in non-Caucasian women, and decreased 46% for any previous miscarriage. For pregnant women who did not receive an ultrasound screening examination during pregnancy, the strongest statistically associated factors were professional occupation, ethnicity, and number of miscarriages in previous gestations. Birth Defects Research (Part A) 106:489-493, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Rare case of congenital anomaly in two different gestational ages: a case series

    Directory of Open Access Journals (Sweden)

    Lopamudra B. John

    2013-04-01

    Full Text Available Acrania is a rare congenital anomaly involving faulty development of membranous flat bones of neurocalvarium. Commonest differential diagnosis is anencephaly. The first case was diagnosed in a second gravida at 13 weeks and terminated by vaginal misoprostol instillation. The second case was diagnosed only by scan at 32 weeks in an unbooked second gravida with previous LSCS. She underwent emergency LSCS for failed induction and a fresh stillborn baby of 1.9 kg was born. [Int J Reprod Contracept Obstet Gynecol 2013; 2(2.000: 240-241

  11. Congenital anomalies of the venae cavae: embryological origin, imaging features and report of three new variants

    Energy Technology Data Exchange (ETDEWEB)

    Minniti, S.; Visentini, S.; Procacci, C. [Department of Radiology, University of Verona, Policlinico ' ' GB Rossi' ' , Piazzale LA Scuro, 37134 Verona (Italy)

    2002-08-01

    Due to the complexity of their developmental stages, the venae cavae may undergo a very large number of congenital anomalies. All the possible abnormalities which, to our knowledge, have been observed in the literature are reported, differentiating those of the superior vena cava and the azygos system, those of the inferior vena cava and the complex anomalies that concern the venous system as a whole. Moreover, we present three new variants: a right double inferior vena cava with azygos continuation of the posterior-medial vein; an agenesis of the superior vena cava with drainage through the azygos and hemiazygos veins to the inferior vena cava; and a double inferior vena cava with hemiazygos and azygos continuation of the left one. (orig.)

  12. The portal vein in children: radiological review of congenital anomalies and acquired abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Corness, Jonathan A.G.; McHugh, Kieran; Roebuck, Derek J. [Great Ormond Street Hospital for Children, Department of Radiology, London (United Kingdom); Taylor, Andrew M. [Institute of Child Health, Cardiothoracic Unit, London (United Kingdom)

    2006-02-01

    A variety of portal vein anomalies that occur in children can be identified by US, CT, MRI and portal venography. Although these abnormalities can also occur in adults, there are certain pathological processes and aberrations within the portal system that are specific to children. Knowledge of the embryology and anatomy of the portal vein is of benefit in the understanding of these anomalies. Identifying deviations from normal portal architecture is important in the work-up for surgery such as liver transplantation, and prior to interventional procedures such as stent placement or embolization. The aim of this paper is to summarize the various types of congenital and acquired portal vein abnormalities that occur in children, describe their radiological features and provide images to demonstrate the differences from normal portal venous anatomy. (orig.)

  13. Molecular dysregulation of renal development:Congenital anomalies of the kidney and urinary tract

    Institute of Scientific and Technical Information of China (English)

    Mark Daniel Wilson

    2015-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) occur in approximately 1 in 500 foetal ultrasound examinations. The CAKUT phenotype can involve varying degrees of renal dysplasia, renal hypoplasia, urinary tract obstruction, ureteropelvic anomalies such as megaureter, ureteral atresia, ectopic ureteral orifice, and duplex collecting system The nephrogenic (mesenchymal) and the ductogenic (ureteric) events are regulated by transcription factors, proto-oncogenes and growth factors in a complex fashion. Dysregulation of specific molecular pathways has been implicated as a primary mechanism for CAKUT. This review will attempt to clarify the molecular basis of CAKUT by focusing on these key developmental pathways. First, however, an examination of normal metanephric kidney development is necessary. Furthermore, clinical aspects of CAKUT, including prenatal diagnosis and current treatments, will be introduced. Through the critical evaluation of a range of diverse scientific literature, it is hoped that an overview of the current status of this important area of developmental anatomy is achieved.

  14. Molecular dysregulation of renal development: Congenital anomalies of the kidney and urinary tract

    Directory of Open Access Journals (Sweden)

    Mark Daniel Wilson

    2015-03-01

    Full Text Available Congenital anomalies of the kidney and urinary tract (CAKUT occur in approximately 1 in 500 foetal ultrasound examinations. The CAKUT phenotype can involve varying degrees of renal dysplasia, renal hypoplasia, urinary tract obstruction, ureteropelvic anomalies such as megaureter, ureteral atresia, ectopic ureteral orifice, and duplex collecting system The nephrogenic (mesenchymal and the ductogenic (ureteric events are regulated by transcription factors, proto-oncogenes and growth factors in a complex fashion. Dysregulation of specific molecular pathways has been implicated as a primary mechanism for CAKUT. This review will attempt to clarify the molecular basis of CAKUT by focusing on these key developmental pathways. First, however, an examination of normal metanephric kidney development is necessary. Furthermore, clinical aspects of CAKUT, including prenatal diagnosis and current treatments, will be introduced. Through the critical evaluation of a range of diverse scientific literature, it is hoped that an overview of the current status of this important area of developmental anatomy is achieved.

  15. Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies

    Directory of Open Access Journals (Sweden)

    Radoslava Vazharova

    2016-01-01

    Full Text Available Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.. The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS.

  16. Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013.

    Science.gov (United States)

    Norwood, Marlena S; Lupo, Philip J; Chow, Eric J; Scheurer, Michael E; Plon, Sharon E; Danysh, Heather E; Spector, Logan G; Carozza, Susan E; Doody, David R; Mueller, Beth A

    2017-01-01

    The presence of a congenital anomaly is associated with increased childhood cancer risk, likely due to large effects of Down syndrome and chromosomal anomalies for leukemia. Less is known about associations with presence of non-chromosomal anomalies. Records of children diagnosed with cancer at anomalies were assessed from birth records and diagnosis codes in linked hospital discharge data. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI) for cancer, and for specific cancer types in relation to the presence of any anomaly and specific anomalies. Having any congenital anomaly was associated with an increased risk of childhood cancer (OR: 1.46, 95% CI 1.28-1.65). Non-chromosomal anomalies were also associated with increased childhood cancer risk overall (OR: 1.35; 95% CI: 1.18-1.54), and with increased risk of several cancer types, including neuroblastoma, renal, hepatoblastoma, soft-tissue sarcoma, and germ cell tumors. Increasing number of non-chromosomal anomalies was associated with a stronger risk of childhood cancer (OR for 3+ anomalies: 3.11, 95% CI: 1.54-6.11). Although central nervous system (CNS) anomalies were associated with CNS tumors (OR: 6.05, 95% CI 2.75-13.27), there was no strong evidence of other non-chromosomal anomalies being specifically associated with cancer occurring in the same organ system or anatomic location. Non-chromosomal anomalies increased risk of several cancer types. Additionally, we found that increasing number of non-chromosomal anomalies was associated with a stronger risk of cancer. Pooling similar data from many regions would increase power to identify specific associations in order to inform molecular studies examining possible common developmental pathways in the etiologies of birth defects and cancer.

  17. Mouse models for understanding human developmental anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Generoso, W.M.

    1989-01-01

    The mouse experimental system presents an opportunity for studying the nature of the underlying mutagenic damage and the molecular pathogenesis of this class of anomalies by virtue of the accessibility of the zygote and its descendant blastomeres. Such studies could contribute to the understanding of the etiology of certain sporadic but common human malformations. The vulnerability of the zygotes to mutagens as demonstrated in the studies described in this report should be a major consideration in chemical safety evaluation. It raises questions regarding the danger to human zygotes when the mother is exposed to drugs and environmental chemicals.

  18. Inner ear anomalies causing congenital sensorineural hearing loss: CT and MR imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Hyun Sook; Paik, Sang Hyun; Cha, Jang Gyu; Park, Seong Jin; Joh, Joon Hee; Park, Jai Soung; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Buchon(Korea, Republic of)

    2005-07-15

    Many congenital dysplasias of the osseous labyrinth have been identified, and the differential diagnosis of these dysplasias is essential for delivering proper patient management. We retrospectively reviewed the computed tomography (CT) and magnetic resonance (MR) imaging findings of 20 children who had congenital sensorineural hearing loss. The children included cases of enlarged vestibular aqueduct and endolymphatic sac (n=8), aplasia of the semicircular canal (n=4), lateral semicircular canal-vestibule dysplasia (n=3), common cavity malformations with a large vestibule (n=1), cochlear hypoplasia (n=1), Mondini's dysplasia with large vestibular aqueduct (n=1), Mondini's dysplasia with a large vestibule (n=1), and small internal auditory canal (n=1). Six cases were unilateral. Nine cases had combined deformities, and nine cased had cochlear implants. CT was performed with a 1.0-mm thickness in the direct coronal and axial sections with using bone algorithms. MR was performed with a temporal 3D T2 FSE 10-mm scan and with routine brain images. We describe here the imaging features for the anomalies of the inner ear in patients suffering from congenital sensorineural hearing loss.

  19. Retention of foreign body in the gut can be a sign of congenital obstructive anomaly: a case report

    Directory of Open Access Journals (Sweden)

    Subudhi Pravas

    2008-09-01

    Full Text Available Abstract Introduction Small smooth objects that enter the gut nearly always pass uneventfully through the gastrointestinal tract. Retention of foreign objects may occur due to congenital obstructive anomaly of the gut. Case presentation We report here a child who presented with features of small gut obstruction which were attributed to a foreign body impacted in the intestine. At surgery, an annular pancreas was detected and the foreign body was found to be lodged in the distended proximal duodenum. Conclusion The reported case highlights the fact that an impacted radio-opaque foreign body in a child should warn the pediatrician to the possibility of an obstructive congenital anomaly.

  20. Recurrence risk of congenital anomalies - the impact of paternal, social, and environmental factors

    DEFF Research Database (Denmark)

    Basso, Olga; Olsen, Jørn; Christensen, Kaare

    1999-01-01

    The authors investigated the recurrence risk of congenital anomalies as a function of changes in genetic and environmental factors in single births following the birth of a child with an anomaly. The study is a population-based historical follow-up using the Danish Medical Birth registry, hospital...... with a malformation, 155 of which (1.8%) were similar to the malformation of the older sib or half sib. When the father changed between the two births, the risk of a similar anomaly was significantly reduced (odds ratio (OR) = 0.26, 95% confidence interval (CI) 0.11, 0.65). Higher social status at enrollment...... was associated with a lower recurrence risk (OR = 0.67, 95% CI 0.45, 0.99, for the middle status group and OR = 0.49, 95% CI 0.30, 0.81, for the highest status group), independently of partner change. A rise in social status between the two births was marginally associated with a decline in the recurrence risk...

  1. Congenital varitans and anomalies of the pancreas and pancreatic duct: Imaging by magnetic resonance cholangiopancreaticography and multidetector computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Tuerkvatan, Aysel; Yener, Ouzlem [Dept. of Radiology, Tuerkiye Yueksek Ihtisas Hospital, Ankara (Turkmenistan); Erden, Aysel [Dept. of Radiology, Ankara University School of Medicine, Antalya (Turkmenistan); Tuerkoglu, Mehmet Akif [Dept. of General Surgery, Antalya University School of Medicine, Antalya (Turkmenistan)

    2013-12-15

    Though congenital anomalies of the pancreas and pancreatic duct are relatively uncommon and they are often discovered as an incidental finding in asymptomatic patients, some of these anomalies may lead to various clinical symptoms such as recurrent abdominal pain, nausea and vomiting. Recognition of these anomalies is important because these anomalies may be a surgically correctable cause of recurrent pancreatitis or the cause of gastric outlet obstruction. An awareness of these anomalies may help in surgical planning and prevent inadvertent ductal injury. The purpose of this article is to review normal pancreatic embryology, the appearance of ductal anatomic variants and developmental anomalies of the pancreas, with emphasis on magnetic resonance cholangiopancreaticography and multidetector computed tomography.

  2. Frequency of Congenital Anomalies in Newborns and Its Relation to Maternal Health in a Tertiary Care Hospital in Peshawar, Pakistan

    Directory of Open Access Journals (Sweden)

    Adnan Khan

    2015-03-01

    Full Text Available Background: Congenital anomalies are a major cause of perinatal and neonatal deaths, both in low- and high-income countries. They are relatively common worldwide, affecting 3% to 5% of live births. Methods: A cross-sectional study was conducted from January 2014 to June 2014 at the Khyber teaching hospital in Peshawar. Specific patient information was obtained from patient records at the beginning of the study. Those individuals found to have at least one birth defect were approached and their attendants (mothers were interviewed. Information regarding various risk factors was collected. Descriptive analyses were carried out. Results: Out of 1062 deliveries, 2.9% (31 of newborns had various congenital anomalies. Hydrocephalus (22.6%, anencephaly (12.9%, and spina bifida (9.7% were major anomalies. The maternal age ranged from 18 years to 46 years (mean: 30 ± 8. Most of the anomalies (35.5% were present in the 26-30 years age group. Out of 31 babies, 6.4% had multiple anomalies. The preponderance of various congenital anomalies was seen in parity 1 (35.4%; parities 2 to 4 had lower incidences (35.4%. The consanguinity rate was 67.7%; only 32.3% of patients were using folic acid. History of passive smoking was positive in 16.1% of cases. Conclusion: Anencephaly and hydrocephalus were the most prominent anomaly detected; early prenatal diagnosis may be helpful in decreasing mortality by offering early termination. Low intake of folic acid and a high consanguinity rate were the most common associated risk factors for congenital anomalies. These risk factors may be reduced by creating awareness regarding the avoidance of consanguineous marriage and promoting the use of folic acid during pregnancy.

  3. Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

    OpenAIRE

    Dowton, S B; Hing, A V; Sheen-Kaniecki, V; Watson, M. S.

    1997-01-01

    Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defect...

  4. Ehlers-Danlos syndrome type IV : unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

    NARCIS (Netherlands)

    Kroes, HY; Pals, G; van Essen, AJ

    2003-01-01

    A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an

  5. Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly : a registry-based study in 14 European countries 1984-2007

    NARCIS (Netherlands)

    Boyle, B.; McConkey, R.; Garne, E.; Loane, M.; Addor, M. C.; Bakker, M. K.; Boyd, P. A.; Gatt, M.; Greenlees, R.; Haeusler, M.; Klungsoyr, K.; Latos-Bielenska, A.; Lelong, N.; McDonnell, R.; Metneki, J.; Mullaney, C.; Nelen, V.; O'Mahony, M.; Pierini, A.; Rankin, J.; Rissmann, A.; Tucker, D.; Wellesley, D.; Dolk, H.

    Objective To assess the public health consequences of the rise in multiple births with respect to congenital anomalies. Design Descriptive epidemiological analysis of data from population-based congenital anomaly registries. Setting Fourteen European countries. Population A total of 5.4 million

  6. Ehlers-Danlos syndrome type IV : unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

    NARCIS (Netherlands)

    Kroes, HY; Pals, G; van Essen, AJ

    2003-01-01

    A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an

  7. Prenatal screening for Down syndrome and for structural congenital anomalies in the Netherlands: Information provision, informed decision-making and participation

    NARCIS (Netherlands)

    M.H.M.H.J.D. Schoonen (Marleen)

    2011-01-01

    textabstractCongenital anomalies are the leading cause of death and morbidity in children under 1 year of age. Down syndrome and neural tube defects are congenital anomalies that may be diagnosed before birth using prenatal tests. In the Netherlands, prenatal screening for Down syndrome and for stru

  8. Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly : a registry-based study in 14 European countries 1984-2007

    NARCIS (Netherlands)

    Boyle, B.; McConkey, R.; Garne, E.; Loane, M.; Addor, M. C.; Bakker, M. K.; Boyd, P. A.; Gatt, M.; Greenlees, R.; Haeusler, M.; Klungsoyr, K.; Latos-Bielenska, A.; Lelong, N.; McDonnell, R.; Metneki, J.; Mullaney, C.; Nelen, V.; O'Mahony, M.; Pierini, A.; Rankin, J.; Rissmann, A.; Tucker, D.; Wellesley, D.; Dolk, H.

    2013-01-01

    Objective To assess the public health consequences of the rise in multiple births with respect to congenital anomalies. Design Descriptive epidemiological analysis of data from population-based congenital anomaly registries. Setting Fourteen European countries. Population A total of 5.4 million birt

  9. Prenatal screening for Down syndrome and for structural congenital anomalies in the Netherlands: Information provision, informed decision-making and participation

    NARCIS (Netherlands)

    M.H.M.H.J.D. Schoonen (Marleen)

    2011-01-01

    textabstractCongenital anomalies are the leading cause of death and morbidity in children under 1 year of age. Down syndrome and neural tube defects are congenital anomalies that may be diagnosed before birth using prenatal tests. In the Netherlands, prenatal screening for Down syndrome and for stru

  10. Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: a national validation study.

    Science.gov (United States)

    Rozendaal, A M; Luijsterburg, A J M; Ongkosuwito, E M; van den Boogaard, M-J H; de Vries, E; Hovius, S E R; Vermeij-Keers, C

    2012-06-01

    Since 1997, the 15 Dutch cleft palate teams have reported their patients with oral clefts to the national oral cleft registry (NVSCA). During the first visit of the patient to the team - which is usually within the first year of life - the oral cleft and associated congenital anomalies are recorded through a unique recording form by a plastic surgeon/orthodontist/paediatrician. In this study, we evaluated the quality of data on congenital anomalies associated with clefts. We drew a random sample of 250 cases registered in the national database with oral clefts from 1997 through 2003; of these, 13 were excluded. Using two independent reregisters derived from two-phased medical data review, we analysed whether associated anomalies were correctly diagnosed and recorded. The agreement on associated anomalies between the NVSCA and medical data ranged from moderate to poor (kappa 0.59 to 0). Seventy-seven percent of the craniofacial anomalies were underreported in the NVSCA: 30% due to delayed diagnosis and 47% due to deficient recording. Additionally, 80% of the associated anomalies of other organ systems were underreported: 52% due to delayed diagnosis and 28% due to deficient recording. The reporting of final diagnoses was somewhat better; however, 54% were still underreported (24% delayed diagnosis and 30% deficient recording). The rate of overreporting was 1.6% or lower. Congenital anomalies associated with clefts are underreported in the NVSCA because they are under diagnosed and deficiently recorded during the first consultations with the cleft palate teams. Our results emphasise the need for routine and thorough examination of patients with clefts. Team members should be more focussed on co-occurring anomalies, and early genetic counselling seems warranted in most cases. Additionally, our findings underline the need for postnatal follow-up and ongoing registration of associated anomalies; reregistration in the NVSCA at a later age is recommended. Copyright

  11. Presence of accessory penis, colonic duplication and several other congenital anomalies in a child: a very rare association.

    Science.gov (United States)

    Chatterjee, Sayan; Mondal, Prabodh Chandra; Pandey, Shashi Bhushan; Achar, Arun

    2014-10-01

    An accessory penis is a very rare anomaly. Only five cases have been reported thus far to our knowledge. We present the case of a child aged 2 years and 10 months who had a penis-like structure (containing phallus and glans) attached to the right buttock. Associated anomalies were a non-communicating type of colonic duplication, a paramedian stenosed anal opening, a horse-shoe kidney, posterior urethral valves, scoliosis of the lumbo-sacral spine, polydactyly and equino-varus deformity of the right foot. As far as we can tell, this is the first report of an accessory penis associated with colonic duplication and other congenital anomalies.

  12. Anaesthetic Management of A Child with Multiple Congenital Anomalies Scheduled for Cataract Extraction

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    Kalpana Kulkarni

    2009-01-01

    Full Text Available In infants& children variety of conditions and syndromes are associated with difficult Airway. Anaesthetic management becomes a challenge if it remains unrecognized until induction and sometimes results in disaster, leading to oropharyngeal trauma, laryngeal oedema, cardiovascular& neurological complications. A 4-month-old child with multiple congenital anomalies was posted for cataract extraction for early and better development of vision. He had history of post birth respiratory distress, difficulty in feeding, breath holding with delayed mile stones. He was treated as for Juvenile asthma. This child was induced with inhalation anaesthesia. There was difficulty in laryngoscopic intubation and could pass much smaller size of the tube than predicted. He developed post operative stridor and desaturation. The problems which we faced during the anaesthetic management and during postoperative period are discussed with this case.

  13. The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

    Science.gov (United States)

    Couser, Natario L; Masood, Maheer M; Strande, Natasha T; Foreman, Ann Katherine M; Crooks, Kristy; Weck, Karen E; Lu, Mei; Wilhelmsen, Kirk C; Roche, Myra; Evans, James P; Berg, Jonathan S; Powell, Cynthia M

    2015-09-01

    The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. He also had supernumerary nipples, pectus excavatum, a short upturned nose, fleshy ear lobes, and a right auricular pit. Massively parallel exome sequencing and analysis revealed two novel compound heterozygous missense (Trp136Gly and Ser859Thr) variants in the PIGN gene. This report extends and further defines the phenotype of this syndrome.

  14. Congenital Pelger-Huët anomaly in a Danish/Swedish Farmdog: Case Report

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    Allison Robin W

    2011-03-01

    Full Text Available Abstract A 13 year old Danish/Swedish Farmdog from Denmark was evaluated in a veterinary clinic in Warsaw, Poland for evaluation of an orthopedic problem. Radiographs revealed spondylosis and degenerative vertebral disease, which responded to treatment with anti-inflammatory medications. A predominance of hyposegmented neutrophils and eosinophils containing condensed chromatin and normal cytoplasm were identified on a routine CBC. Follow-up blood film evaluations over the course of 12 months confirmed that the hyposegmented granulocytes persisted. The majority of neutrophils contained Grade 2 nuclei (slightly indented, and the mean nuclear score varied from 1.9 to 2.3. Pelger-Huët anomaly (PHA, presumably congenital, was diagnosed based on persistent hyposegmented granulocytes in the absence of an underlying cause for acquired PHA; genetically related dogs were unavailable for testing to confirm vertical transmission. To the authors' knowledge this is the first report of PHA in a Danish/Swedish Farmdog.

  15. Antenatal counselling for congenital anomaly tests: an exploratory video-observational study about client-midwife communication

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Gitsels-van der Wal, J.T.; Spelten, E.R.; Kuiper, F.; Pereboom, M.T.; Dulmen, S. van

    2015-01-01

    OBJECTIVE: antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client-midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions. Ho

  16. Antenatal counselling for congenital anomaly tests: an exploratory video-observational study about client-midwife communication.

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Gitsels-van der Wal, J.T.; Spelten, E.R.; Kuiper, F.; Pereboom, M.T.R.; Dulmen, S. van

    2015-01-01

    Objective: antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client–midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions. Ho

  17. Training Performance in Diagnosis of Congenital Uterine Anomalies With 3-Dimensional Sonography: A Learning Curve Cumulative Summation Analysis.

    Science.gov (United States)

    Pascual, M Angela; Alcazar, Juan Luís; Graupera, Betlem; Rodriguez, Ignacio; Guerriero, Stefano; Mallafre, Anna; de Lorenzo, Cristina; Hereter, Lourdes

    2016-12-01

    We evaluated learning curve cumulative summation (CUSUM) of 3-dimensional (3D) sonography for diagnosis of congenital uterine anomalies and the deviations of the level of trainees' performance at the control-stage CUSUM. First-year (R1), second-year (R2), and third-year (R3) residents in obstetrics and gynecology received a training program to learn how to analyze 3D sonographic volumes and to classify congenital uterine anomalies. Each trainee worked on 155 3D sonographic volumes from preselected patients. Their results were evaluated by learning curve CUSUM and standard CUSUM. The time for each volume analysis was calculated for the expert examiner and the trainees. Trainees R1, R2, and R3 reached competence at the 85th, 58th, and 40th evaluations, respectively, with success rates of 80%, 81%, and 85%, and kept the process under control with error levels of less than 4.5% until the end of the test. The trainees significantly reduced the average time of the evaluation per volume (P < .001). Learning curve CUSUM provided quantitative indicators of the learning evolution of 3D sonography for diagnosis of congenital uterine anomalies by obstetrics and gynecology residents. The training received by the residents was adequate for diagnosis of congenital uterine anomalies using 3D sonography. © 2016 by the American Institute of Ultrasound in Medicine.

  18. Early Developmental Assessment of Children with Major Non-Cardiac Congenital Anomalies Predicts Development at the Age of 5 Years

    Science.gov (United States)

    Mazer, Petra; Gischler, Saskia J.; van der Cammen-van Zijp, Monique H. M.; Tibboel, Dick; Bax, Nicolaas M. A.; Ijsselstijn, Hanneke; van Dijk, Monique; Duivenvoorden, Hugo J.

    2010-01-01

    Aim: The aim of this study was to evaluate cognitive and motor development in children with major congenital anomalies and the predictability of development at age 5 years. Method: A prospective, longitudinal follow-up study was undertaken. The Dutch version of the Bayley Scales of Infant Development--Mental Developmental Index (MDI) and…

  19. Use of asthma medication during pregnancy and risk of specific congenital anomalies : A European case-malformed control study

    NARCIS (Netherlands)

    Garne, Ester; Hansen, Anne Vinkel; Morris, Joan; Zaupper, Louise; Addor, Marie-Claude; Barisic, Ingeborg; Gatt, Miriam; Lelong, Nathalie; Klungsoyr, Kari; O'Mahony, Mary; Nelen, Vera; Neville, Amanda J.; Pierini, Anna; Tucker, David; de Walle, Hermien; Wiesel, Awi; Loane, Maria; Dolk, Helen

    2015-01-01

    Background: Pregnant women with asthma need to take medication during pregnancy. Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy. Methods: We performed a population-based

  20. Antenatal counselling for congenital anomaly tests: an exploratory video-observational study about client-midwife communication

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Gitsels-van der Wal, J.T.; Spelten, E.R.; Kuiper, F.; Pereboom, M.T.; Dulmen, S. van

    2015-01-01

    OBJECTIVE: antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client-midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions.

  1. Antenatal counselling for congenital anomaly tests: an exploratory video-observational study about client-midwife communication.

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Gitsels-van der Wal, J.T.; Spelten, E.R.; Kuiper, F.; Pereboom, M.T.R.; Dulmen, S. van

    2015-01-01

    Objective: antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client–midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions.

  2. Impact of a child with congenital anomalies on parents (ICCAP questionnaire; a psychometric analysis

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    van Dijk Monique

    2008-11-01

    Full Text Available Abstract Background The objective of this study was to validate the Impact of a Child with Congenital Anomalies on Parents (ICCAP questionnaire. ICCAP was newly designed to assess the impact of giving birth to a child with severe anatomical congenital anomalies (CA on parental quality of life as a result of early stress. Methods At 6 weeks and 6 months after birth, mothers and fathers of 100 children with severe CA were asked to complete the ICCAP questionnaire and the SF36. The ICCAP questionnaire measures six domains: contact with caregivers, social network, partner relationship, state of mind, child acceptance, and fears and anxiety. Reliability (i.e. internal consistency and test-retest and validity were tested and the ICCAP was compared to the SF-36. Results Confirmatory factor analysis resulted in 6 six a priori constructed subscales covering different psychological and social domains of parental quality of life as a result of early stress. Reliability estimates (congeneric approach ranged from .49 to .92. Positive correlations with SF-36 scales ranging from .34 to .77 confirmed congruent validity. Correlations between ICCAP subscales and children's biographic characteristics, primary CA, and medical care as well as parental biographic and demographic variables ranged from -.23 to .58 and thus indicated known-group validity of the instrument. Over time both mothers and fathers showed changes on subscales (Cohen's d varied from .07 to .49, while the test-retest reliability estimates varied from .42 to .91. Conclusion The ICCAP is a reliable and valid instrument for clinical practice. It enables early signaling of parental quality of life as a result of early stress, and thus early intervention.

  3. Epidemiology of Congenital Upper Limb Anomalies in a Midwest United States Population: An Assessment Using the OMT Classification

    Science.gov (United States)

    Goldfarb, Charles A.; Wall, Lindley B.; Bohn, Deborah C.; Moen, Patrick; Van Heest, Ann E.

    2014-01-01

    Purpose To examine the relative presentation frequency of children with upper limb congenital anomalies at 3 Midwestern referral centers using the Oberg, Manske, and Tonkin (OMT) classification and to assess the utility of this new classification system. Methods 641 individuals with 653 congenital upper extremity anomalies were identified at 3 hospitals in 2 large metropolitan areas during a 1-year interval. Patients were identified prospectively and the specific upper extremity anomaly and any associated syndromes were confirmed using medical records and radiographs. We applied the OMT classification that categorizes anomalies using a dysmorphology outline as malformations, dysplasias, deformations, and syndromes, and assessed its utility and ease of use. Results There were 480 extremities (74%) with a limb malformation including 184 involving the entire limb. Arthrogryposis was the most common of these (53 extremities). Anomalies affecting only the hand plate accounted for 62% (296) of the malformations. Of these, radial polydactyly (15%) was the most common specific anomaly, followed by symbrachydactyly (13%) and cleft hand (11%). Dysplasias were noted in 86 extremities; 55 of these were multiple hereditary exostoses. There were 87 extremities with deformations and 58 of these were trigger digits. A total of 98 children had a syndrome or association. Constriction ring sequence was most common. The OMT was straightforward to use and most anomalies could be easily assigned. There were a few conditions, such as Madelung deformity and symbrachydactyly, that would benefit from clarification on how to best classify them. Conclusions Malformations were the most common congenital anomalies in the 653 upper extremities evaluated over a 1-year period at 3 institutions. We were able to classify all individuals using the OMT classification system. PMID:25534840

  4. Interactions between Cytokines, Congenital Anomalies of Kidney and Urinary Tract and Chronic Kidney Disease

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    Ana Cristina Simões e Silva

    2013-01-01

    Full Text Available Fetal hydronephrosis is the most common anomaly detected on antenatal ultrasound, affecting 1–5% of pregnancies. Postnatal investigation has the major aim in detecting infants with severe urinary tract obstruction and clinically significant urinary tract anomalies among the heterogeneous universe of patients. Congenital uropathies are frequent causes of pediatric chronic kidney disease (CKD. Imaging techniques clearly contribute to this purpose; however, sometimes, these exams are invasive, very expensive, and not sufficient to precisely define the best approach as well as the prognosis. Recently, biomarkers have become a focus of clinical research as potentially useful diagnostic tools in pediatric urological diseases. In this regard, recent studies suggest a role for cytokines and chemokines in the pathophysiology of CAKUT and for the progression to CKD. Some authors proposed that the evaluation of these inflammatory mediators might help the management of postnatal uropathies and the detection of patients with high risk to developed chronic kidney disease. Therefore, the aim of this paper is to revise general aspects of cytokines and the link between cytokines, CAKUT, and CKD by including experimental and clinical evidence.

  5. Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007.

    Science.gov (United States)

    Boyle, B; McConkey, R; Garne, E; Loane, M; Addor, M C; Bakker, M K; Boyd, P A; Gatt, M; Greenlees, R; Haeusler, M; Klungsøyr, K; Latos-Bielenska, A; Lelong, N; McDonnell, R; Métneki, J; Mullaney, C; Nelen, V; O'Mahony, M; Pierini, A; Rankin, J; Rissmann, A; Tucker, D; Wellesley, D; Dolk, H

    2013-05-01

    To assess the public health consequences of the rise in multiple births with respect to congenital anomalies. Descriptive epidemiological analysis of data from population-based congenital anomaly registries. Fourteen European countries. A total of 5.4 million births 1984-2007, of which 3% were multiple births. Cases of congenital anomaly included live births, fetal deaths from 20 weeks of gestation and terminations of pregnancy for fetal anomaly. Prevalence rates per 10,000 births and relative risk of congenital anomaly in multiple versus singleton births (1984-2007); proportion prenatally diagnosed, proportion by pregnancy outcome (2000-07). Proportion of pairs where both co-twins were cases. Prevalence of congenital anomalies from multiple births increased from 5.9 (1984-87) to 10.7 per 10,000 births (2004-07). Relative risk of nonchromosomal anomaly in multiple births was 1.35 (95% CI 1.31-1.39), increasing over time, and of chromosomal anomalies was 0.72 (95% CI 0.65-0.80), decreasing over time. In 11.4% of affected twin pairs both babies had congenital anomalies (2000-07). The prenatal diagnosis rate was similar for multiple and singleton pregnancies. Cases from multiple pregnancies were less likely to be terminations of pregnancy for fetal anomaly, odds ratio 0.41 (95% CI 0.35-0.48) and more likely to be stillbirths and neonatal deaths. The increase in babies who are both from a multiple pregnancy and affected by a congenital anomaly has implications for prenatal and postnatal service provision. The contribution of assisted reproductive technologies to the increase in risk needs further research. The deficit of chromosomal anomalies among multiple births has relevance for prenatal risk counselling. © 2013 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2013 RCOG.

  6. Epidemiology and structure of congenital anomalies of the newborns in the region of Novi Sad (Vojvodina, Serbia in 1996 and 2006

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    Ristivojević Anđelka

    2016-01-01

    Full Text Available Background/Aim. According to the World Health Organization (WHO definition, congenital anomalies are all disorders of the organs or tissues, regardless of whether they are visible at birth or manifest in life, and are registered in the International Classification of Diseases. The aim of this study was to compare the incidence and structure of prenatally detected and clinically manifested congenital anomalies in the newborns in the region of Novi Sad (Province of Vojvodina, Serbia in the two distant years (1996 and 2006. Methods. This retrospective cohort study included all the children born at the Clinic for Gynecology and Obstetrics (Clinical Center of Vojvodina in Novi Sad during 1996 and 2006. The incidence and the structure of congenital anomalies were analyzed. Results. During 1996 there were 6,099 births and major congenital anomalies were found in 215 infants, representing 3.5%. In 2006 there were 6,628 births and major congenital anomalies were noted in 201 newborns, which is 3%. During 1996 there were more children with anomalies of musculoskeletal system, urogenital tract, with anomalies of the central nervous system and chromosomal abnormalities. During the year 2006 there were more children with cardiovascular anomalies, followed by urogenital anomalies, with significant decline in musculoskeletal anomalies. The distribution of the newborns with major congenital anomalies, regarding perinatal outcome, showed the difference between the studied years. In 2006 the increasing number of children required further investigation and treatment. Conclusions. There is no national registry of congenital anomalies in Serbia so the aim of this study was to enlight this topic. In the span of ten years, covering the period of the NATO campaign in Novi Sad and Serbia, the frequency of major congenital anomalies in the newborns was not increased. The most frequent anomalies observed during both years implied the musculosketelal, cardiovascular

  7. Effects of Air Pollution on the Risk of Congenital Anomalies: A Systematic Review and Meta-Analysis

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    Esther Kai-Chieh Chen

    2014-07-01

    Full Text Available Congenital anomalies are the main causes of preterm and neonatal mortality and morbidity. We investigated the association between congenital anomalies and mothers’ exposure to air pollution during pregnancy by combining risk estimates for a variety of air pollutants (SO2, NO2, PM10, PM2.5, CO and O3 and anomaly defect outcomes. Seventeen articles were included in the systematic review and thirteen studies were taken into account in the meta-analysis. Combined estimated were calculated separately according to whether the exposure metric was continuous or categorical. Only one significant combination was; NO2 concentrations were significantly associated with coarctation of the aorta (OR = 1.20 per 10 ppb, 95% CI, (1.02, 1.41. This finding could stem from strong heterogeneity in study designs. Improved exposure assessment methods, in particular more accurate spatial measurements or modeling, standardized definition of cases and of better control of confounders are highly recommended for future congenital anomalies research in this area.

  8. Congenital anomalies: 15 years of experience in a level III hospital

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    Carolina Félix

    2017-01-01

    Full Text Available Background: Congenital anomalies (CAs are a leading cause of fetal and infant mortality and morbidity worldwide. They may be identified prenatally, at the moment of birth or later in life.Purpose: To describe the cases of CAs registered over the last 15 years at a level III hospital, comparing individuals who were detected through prenatal (preN diagnosis with those detected through postnatal (postN diagnosis.Methods: All records were collected from the Registo Nacional de Anomalias Congénitas (RENAC online platform between 1st January 2000 to 31st December 2014, in a level III hospital, where cases of CAs were notified voluntarily (n = 1,222. We tested differences for selected variables between the years in study. A multivariate analysis was performed to identify potential factors associated to preN diagnosis.Results: We observed a total of 1,510 anomalies, being 493 (40.3% circulatory, 252 (20.6% chromosomal, 187 (15.3% musculoskeletal, 138 (11.3% digestive, 133 (10.9% urinary, 117 (9.6% nervous, 37 (3.0% respiratory, 35 (2.9% genital, 25 (2% anomalies of the eye, ear, face and neck, 20 (1.6% cleft lip/cleft palate and 73 (6.0% others. Time of diagnosis was known for all subjects: 770 (63.0% were diagnosed prenatally and 452 (37.0% were diagnosed at birth or during the first month of life. We found statistically significant differences between groups for several variables. Assisted reproduction techniques (p = 0.023, maternal medications during the first trimester of pregnancy (p = 0.004 and the number of anomalies per individual (p ≤ 0.001 had a statistically significant impact on receiving preN diagnosis.Conclusion: Our data confirm the importance of both RENAC national database and preN diagnosis in improving perinatal healthcare. However, in order to determine the national prevalence of CAs and understand any involved factors, it is desirable to enhance the notification in the whole country, facilitating the adjustment of national

  9. Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

    Science.gov (United States)

    Jin, Hyun-Seok; Kim, Jeonhyun; Kwak, Woori; Jeong, Hyeonsoo; Lim, Gyu-Bin

    2017-01-01

    Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family. Based on family WES data, we identified a novel BRD4 missense mutation as a candidate causal variant and performed cell-based experiments by ablation of endogenous BRD4 expression in human lens epithelial cells. The protein expression levels of connexin 43, p62, LC3BII, and p53 differed significantly between control cells and cells in which endogenous BRD4 expression was inhibited. We inferred that a BRD4 missense mutation was the likely disease-causing mutation in this family. Our findings may improve the molecular diagnosis of congenital cataracts and support the use of WES to clarify the genetic basis of complex diseases. PMID:28076398

  10. Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

    Science.gov (United States)

    Dowton, S B; Hing, A V; Sheen-Kaniecki, V; Watson, M S

    1997-05-01

    Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defects with 18q- in this patient suggests the possibility that a gene important for somite formation or vertebral differentiation maps to this segment of chromosome 18.

  11. Anomalies.

    Science.gov (United States)

    Online-Offline, 1999

    1999-01-01

    This theme issue on anomalies includes Web sites, CD-ROMs and software, videos, books, and additional resources for elementary and junior high school students. Pertinent activities are suggested, and sidebars discuss UFOs, animal anomalies, and anomalies from nature; and resources covering unexplained phenonmenas like crop circles, Easter Island,…

  12. Preconception care and the risk of congenital anomalies in the offspring of women with diabetes mellitus: a meta-analysis.

    Science.gov (United States)

    Ray, J G; O'Brien, T E; Chan, W S

    2001-08-01

    Offspring of women with pregestational diabetes mellitus are at increased risk for congenital malformations, largely attributable to poor periconceptional glycaemic control. We assessed the effect of preconception care in reducing congenital malformations, in a meta-analysis of published studies of preconception care in women with diabetes mellitus. Articles were retrieved from Medline (1970 to June 2000) and Embase (1980 to June 2000), and data abstracted by two independent reviewers. The rates and relative risks (RR) for major and minor congenital malformations were pooled from all eligible studies using a random effects model, as were early first-trimester glycosylated haemoglobin values. In 14 cohort studies, major congenital malformations were assessed among 1192 offspring of mothers who had received preconception care, and 1459 offspring of women who had not. The pooled rate of major anomalies was lower among preconception care recipients (2.1%) than non-recipients (6.5%) (RR 0.36, 95%CI 0.22-0.59). In nine studies, the risk for major and minor anomalies was also lower among women who received preconception care (RR 0.32, 95%CI 0.17-0.59), as were the early first-trimester mean glycosylated haemoglobin values (pooled mean difference: 2.3%, 95%CI 2.1-2.4). Women who received preconception care were, on average, 1.8 years older than non-recipients, and fewer smoked (19.6% vs. 30.2%). Only one study described the routine use of periconception folic acid. Out-patient preconception care probably reduces the risk of major congenital anomalies among the offspring of women with pregestational diabetes mellitus. Because many women with diabetes neither plan their pregnancy nor achieve adequate glycaemic control before conception, strategies are needed to improve access to these programs, and to maximize those interventions associated with improved pregnancy outcome, such as smoking cessation and folic acid use.

  13. Congenital keratoglobus with multiple cardiac anomalies: a case presentation and literature review.

    Science.gov (United States)

    Ozer, Pinar A; Yalniz-Akkaya, Zuleyha

    2015-07-01

    Keratoglobus is a rare condition of bilateral corneal ectasia, which results in high myopia, irregular astigmatism, scarring, and rarely spontaneous globe rupture. Globoid protrusion of a clear, diffusely thin cornea is the pathology. The congenital form has been associated with blue sclera in which there is a systemic connective tissue disorder with abnormal collagen synthesis like Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. Some concomitant abnormalities reported with kertoglobus include joint hypermobility, dental and skeletal abnormalities, osteal fragility, and deafness. Acquired forms have been reported to be associated with vernal keratoconjunctivitis and thyroid ophthalmopathy. We report the case of a 16-year-old boy with keratoglobus who presented with a history of photophobia and a low vision in both eyes since birth. He has been followed up by our pediatric cardiology department due to multiple cardiac anomalies. He had hypermobility of large joints, easy bruising, thin and hyperextensible skin with visible veins, which were also described in his elder brother. We aimed to discuss the etiology and the association of keratoglobus with some systemic abnormalities caused by collogen tissue disturbance, and make a brief review about the recent literature concerning the management of keratoglobus patients.

  14. Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies

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    Sima Derakhshan

    2016-05-01

    Full Text Available Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID and multiple congenital anomalies (MCAs. Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed through standard karyotyping. Methods: A cytogenetic study involving 1730 individuals with ID and/or MCA was conducted using lymphocyte culture and high-resolution G-banding method. Results: Various types of chromosomal abnormalities were detected in 440 patients (25.5%. Numerical and structural chromosomal abnormalities, respectively, were observed in 63.3% (278 out of 440 and 36.7% (162 out of 440 patients. Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in some cases, and Klinefelter syndrome with 2.5% frequency was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in cases, and Down syndrome was the most frequent autosomal chromosomal abnormality occurring in 41.0% of detected abnormalities. Conclusion: The higher contribution of chromosome aberrations in the northwest of Iran indicates the importance of cytogenetic evaluation in the etiology of MCA and/or ID patients. Genetic counseling was provided to the family members to explain the recurrence risk as well as the need for prenatal diagnosis in subsequent pregnancies and management of patients by collected data bank.

  15. Parenting an infant with a congenital anomaly: How are perceived burden and perceived personal benefits related to parenting stress?

    OpenAIRE

    Fonseca,Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

    2015-01-01

    This study aimed to characterize parents’ negative (perceived burden) and positive (perceived personal benefits) perceptions about parenting an infant with a congenital anomaly (CA), and to investigate their role in parenting stress. Forty-three couples (43 mothers and 36 fathers) whose six-month-old infants had a CA completed several questionnaires: the Impact on Family Scale-Revised, the Positive Contributions Scale, and the Parenting Stress Index-Short Form. The results showed similarities...

  16. Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Iourov Ivan Y

    2012-12-01

    Full Text Available Abstract Background Array comparative genomic hybridization (CGH has been repeatedly shown to be a successful tool for the identification of genomic variations in a clinical population. During the last decade, the implementation of array CGH has resulted in the identification of new causative submicroscopic chromosome imbalances and copy number variations (CNVs in neuropsychiatric (neurobehavioral diseases. Currently, array-CGH-based technologies have become an integral part of molecular diagnosis and research in individuals with neuropsychiatric disorders and children with intellectual disability (mental retardation and congenital anomalies. Here, we introduce the Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies analyzed by BAC array CGH and a novel bioinformatic strategy. Results Among 54 individuals highly selected according to clinical criteria and molecular and cytogenetic data (from 2426 patients evaluated cytogenetically and molecularly between November 2007 and May 2012, chromosomal imbalances were detected in 26 individuals (48%. In two patients (4%, a previously undescribed condition was observed. The latter has been designated as meiotic (constitutional genomic instability resulted in multiple submicroscopic rearrangements (including CNVs. Using bioinformatic strategy, we were able to identify clinically relevant CNVs in 15 individuals (28%. Selected cases were confirmed by molecular cytogenetic and molecular genetic methods. Eight out of 26 chromosomal imbalances (31% have not been previously reported. Among them, three cases were co-occurrence of subtle chromosome 9 and 21 deletions. Conclusions We conducted an array CGH study of Russian patients suffering from intellectual disability, autism, epilepsy and congenital anomalies. In total, phenotypic manifestations of clinically relevant genomic variations were found to result from genomic rearrangements affecting 1247 disease

  17. The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors—Is Pharmacogenetics the Key?

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    Daud, Aizati N. A.; Bergman, Jorieke E. H.; Kerstjens-Frederikse, Wilhelmina S.; Groen, Henk; Wilffert, Bob

    2016-01-01

    Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not. PMID:27529241

  18. Statistical Anomaly Detection for Monitoring of Human Dynamics

    Science.gov (United States)

    Kamiya, K.; Fuse, T.

    2015-05-01

    Understanding of human dynamics has drawn attention to various areas. Due to the wide spread of positioning technologies that use GPS or public Wi-Fi, location information can be obtained with high spatial-temporal resolution as well as at low cost. By collecting set of individual location information in real time, monitoring of human dynamics is recently considered possible and is expected to lead to dynamic traffic control in the future. Although this monitoring focuses on detecting anomalous states of human dynamics, anomaly detection methods are developed ad hoc and not fully systematized. This research aims to define an anomaly detection problem of the human dynamics monitoring with gridded population data and develop an anomaly detection method based on the definition. According to the result of a review we have comprehensively conducted, we discussed the characteristics of the anomaly detection of human dynamics monitoring and categorized our problem to a semi-supervised anomaly detection problem that detects contextual anomalies behind time-series data. We developed an anomaly detection method based on a sticky HDP-HMM, which is able to estimate the number of hidden states according to input data. Results of the experiment with synthetic data showed that our proposed method has good fundamental performance with respect to the detection rate. Through the experiment with real gridded population data, an anomaly was detected when and where an actual social event had occurred.

  19. Exposure to metals and congenital anomalies: A biomonitoring study of pregnant Bedouin-Arab women

    Energy Technology Data Exchange (ETDEWEB)

    Karakis, Isabella [Environmental Epidemiology Department, Ministry of Health, Jerusalem (Israel); Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Department of Public Health, The Ashkelon Academic College, Ashkelon (Israel); Landau, Daniella [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Department of Neonatology, Soroka University Medical Center, Beer-Sheva (Israel); Yitshak-Sade, Maayan [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Clinical Research Center, Soroka University Medical Center, Beer-Sheva (Israel); Hershkovitz, Reli [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Ultrasound Unit, Department of Obstetrics and Gynecology, Soroka University Medical Center, Beer-Sheva (Israel); Rotenberg, Michal [Laboratory of Clinical Toxicology and Pharmacology, Sheba Medical Center, Tel-Hashomer (Israel); Sarov, Batia [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Grotto, Itamar [Environmental Epidemiology Department, Ministry of Health, Jerusalem (Israel); Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Public Health Services, Ministry of Health, Jerusalem (Israel); Novack, Lena, E-mail: novack@bgu.ac.il [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel)

    2015-06-01

    Background: The Bedouin-Arab population in Israel comprises a low socio-economic society in transition. Smoking among males and consanguineous marriages are frequent. A previous study showed elevated rates of major malformations within groups from this population residing near an industrial park, where high ambient values of arsenic (As) and nickel (Ni) were detected, compared to groups living in remote localities. Objectives: We estimated the extent of exposure to metals in pregnant Bedouin-Arab women in relation to congenital malformations. Methods: We collected maternal urine samples from 140 Bedouin women who gave birth in a local hospital. Patient medical history, type of marriage (consanguineous or non-consanguineous), and parental exposure history were collected by interview and medical records. Results: Aluminum (Al) was detected in 37 women (26.4%), cadmium (Cd) in 2 (1.4%), As in 10 (7.1%), and Ni in 1 woman (0.7%). The detected rate of Cd exposure was low, though more than 92% of the fathers reported smoking. Concentrations of Al were higher for women residing within 10 km of the local industrial park (Prevalence Ratio (PR) = 1.12, p-value = 0.012) or who reported using a wood burning stove (PR = 1.37, p-value = 0.011) and cooking over an open fire (PR = 1.16, p-value = 0.076). Exposure to Al was adversely associated with minor anomalies (OR = 3.8, p-value = 0.046) after adjusting for history of abortions (OR = 6.1, p-value = 0.007). Fetuses prenatally exposed to As were born prematurely (p-value = 0.001) and at lower weights (pv = 0.023). Conclusions: The study population of pregnant women is exposed to high levels of metals mainly of household origin. Our findings may be generalized to similar populations in developing countries. - Highlights: • Almost a third of the pregnant women had a detectable metal in their urine. • Aluminum and Arsenic were the most prevalent metals in urine. • The study investigates pregnant women exposed to a hazardous

  20. Profile of Congenital Surgical Anomalies in Neonates Admitted to Tertiary Care Neonatal Intensive Care Unit of Saurashtra Region

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    Zalak Shah

    2016-06-01

    Full Text Available Background: Congenital surgical anomaly is a major indication for admission of a neonate to an intensive care unit. Profile of surgical conditions is variable by system affecting the neonate and outcomes of the individual conditions depending upon treatment and post surgical facilities. This study was undertaken to highlight the surgical conditions, their burden and their prognosis encountered in our newborn care unit. Methodology: This study is a cross sectional study. All information was collected from the case records of all neonates admitted in newborn care unit of our centre between 1st April, 2011 and 31st October, 2014 with congenital surgical conditions and the following information extracted: surgical condition, age, sex, maturity, birth weight, its treatment and outcome, and other associated features were studied. Result: A total of 9213 neonates were admitted in the study period, of which 328 neonates (3.6% had surgical conditions. Surgery was performed in 225 neonates. Commonest congenital surgical condition was of gastrointestinal tract (GIT. Commonest GIT anomalies were tracheo-oesophageal fistula (28.6%, intestinal obstruction (23.7%, anorectal malformation (17.9%, and omphalocoele (7%. The overall mortality in neonates with congenital surgical condition in this study was 51.2%. Significantly, more deaths occurred in preterm than in term neonates (P = 0.00003 and low birth weight babies more than normal weight (p=0.0002. Conclusion: High mortality is found in neonates suffering from surgical conditions. Commonest anomaly includes conditions of Gastrointestinal tract. Prematurity and low birth weight is a significant factor associated with high mortality. [Natl J Med Res 2016; 6(2.000: 168-170

  1. Targeted preventive care may be needed for adults with congenital spine anomalies.

    Science.gov (United States)

    Wilson, Richard; Lewis, Steven A; Dicianno, Brad E

    2011-08-01

    To compare hospitalizations caused by spina bifida-sensitive conditions, ambulatory care-sensitive conditions in adults with spina bifida and in the general population, our aim was to provide information about whether preventive health efforts already underway in the hospitalized general population are adequate for preventive care in spina bifida and congenital spine anomalies. Retrospective secondary data analysis. Records of hospitalized individuals who were 18 years of age and older. Comparison between individuals hospitalized with spina bifida and the general population using data from the California State Inpatient Database from the Healthcare Cost and Utilization Project for 2004 of adults. Prevalence of spina bifida-sensitive conditions and ambulatory care-sensitive conditions as reason for hospitalization and 30-day readmission. As compared with the general population, persons with spina bifida who were hospitalized in 2004 had a significantly greater number of hospitalizations, number of hospitalizations associated with both spina bifida-sensitive conditions and ambulatory care-sensitive conditions, and number of 30-day readmissions. Stratification by age shows that the admissions for spina bifida sensitive conditions were greater in persons with spina bifida than in the general population for all age groups. In contrast, only in the youngest age group did those with spina bifida experience greater hospitalizations for ambulatory care-sensitive conditions. This study provides further evidence that persons with spina bifida have hospitalizations that are beyond what the general population experiences. These conditions may be potentially preventable with appropriate ambulatory care. This group also had a greater risk for readmission within 30 days of discharge from their last hospitalization. More research is needed on the efficacy of programs aimed at prevention of these conditions. Copyright © 2011 American Academy of Physical Medicine and Rehabilitation

  2. [Drugs use in pregnancy in the Valencia Region and the risk of congenital anomalies].

    Science.gov (United States)

    Cavero-Carbonell, Clara; Gimeno-Martos, Silvia; Páramo-Rodríguez, Lucía; Rabanaque-Hernández, María José; Martos-Jiménez, Carmen; Zurriaga, Óscar

    2017-09-01

    Despite the potential risks of drug use during pregnancy, consumption has increased in recent decades. To identify the risk of congenital anomalies (CA) associated with the use of drugs in primary care in pregnant women residents in the Valencia Region. A case-control study, considering a case as a less than one year old live birth in 2009-2010, diagnosed with a CA and resident in the Valencia Region, obtained from the CA population-based registry. Controls were selected from the Metabolic Disease Registry, and the drugs prescribed and dispensed from the Integral Management of Pharmaceutical Services. Crude odds ratio (OR) was calculated with its 95% confidence intervals and adjusted OR was calculated using logistic regression. A total of 1,913 cases and 3,826 controls were identified. The most frequently used drug groups were those acting on the musculoskeletal, nervous and respiratory systems, on the blood and blood forming organs, and anti-infection drugs. The most common drugs used were ibuprofen, dexketoprofen, paracetamol, amoxicillin, ferrous sulphate, and a combination of folic acid. A significantly increased risk of CA was identified for drugs acting on the musculoskeletal system (adjusted OR 1.14 [95% confidence interval 1.02-1.28]). A significantly decreased risk was observed for drugs acting on the blood and blood forming organs (adjusted OR 0.87 [95% confidence interval 0.78-0.98]). Associations between drugs and CA in pregnant women resident in the Valencia Region have been identified for drugs that act as risk factors of CA, and for drugs that act as protective factors of CA. Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Pyrrolizidine Alkaloids: Potential Role in the Etiology of Cancers, Pulmonary Hypertension, Congenital Anomalies, and Liver Disease.

    Science.gov (United States)

    Edgar, John A; Molyneux, Russell J; Colegate, Steven M

    2015-01-20

    Large outbreaks of acute food-related poisoning, characterized by hepatic sinusoidal obstruction syndrome, hemorrhagic necrosis, and rapid liver failure, occur on a regular basis in some countries. They are caused by 1,2-dehydropyrrolizidine alkaloids contaminating locally grown grain. Similar acute poisoning can also result from deliberate or accidental consumption of 1,2-dehydropyrrolizidine alkaloid-containing herbal medicines, teas, and spices. In recent years, it has been confirmed that there is also significant, low-level dietary exposure to 1,2-dehydropyrrolizidine alkaloids in many countries due to consumption of common foods such as honey, milk, eggs, salads, and meat. The level of 1,2-dehydropyrrolizidine alkaloids in these foods is generally too low and too intermittent to cause acute toxicity. However, these alkaloids are genotoxic and can cause slowly developing chronic diseases such as pulmonary arterial hypertension, cancers, cirrhosis, and congenital anomalies, conditions unlikely to be easily linked with dietary exposure to 1,2-dehydropyrrolizidine alkaloids, especially if clinicians are unaware that such dietary exposure is occurring. This Perspective provides a comprehensive review of the acute and chronic toxicity of 1,2-dehydropyrrolizidine alkaloids and their potential to initiate certain chronic diseases, and suggests some associative considerations or indicators to assist in recognizing specific cases of diseases that may have resulted from dietary exposure to these hazardous natural substances. If it can be established that low-level dietary exposure to 1,2-dehydropyrrolizidine alkaloids is a significant cause of some of these costly and debilitating diseases, then this should lead to initiatives to reduce the level of these alkaloids in the food chain.

  4. Anaesthesia in Congenital Facial Anomalies in a Rural Set up of a Developing Country

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    Debasish Saha

    2015-01-01

    Full Text Available Background: India has an estimated backlog of 1000000 cleft patients. A total of 35000 new cleft patients are born each year. With the capacity to operate on approximately 50000 patients each year only 15000 patients from the national backlog can be operated upon each year if capability is not augmented. Objectives: To reach the population at large we meticulously planned an out-reach programme and operated on patients even in rural set ups with lack of modern facilities. We operated on patients at sub divisional centres, where apparatus for providing sevoflurane was not available. Institutional Ethical clearance was taken before conduction of the study. Patients who required prolonged surgery were taken to the tertiary centre. Working ventilators were also not available at peripheral centres. Materials and Methods: This interventional study was carried in a time span of four years on nineteen hundred and nine patients, after taking approval from the Institutional Ethical Committee. Patients were screened and some were operated at rural centers and others at a tertiary care centre. Patients who could not afford to come to the tertiary care centre were operated at different rural centers. Informed consent was taken. Results: There were 1909 patients with Congenital Facial Anomalies (CFA over four years period out of which 918 patients were of either unilateral or bilateral cleft lip. They were successfully operated at rural health centers with limited facilities. This could reduce the total load of surgeries for CFA at tertiary care hospital ensuring safe surgeries for all with CFA for all age groups and both genders.No mortality was recorded and post operative complications consisted of nausea and vomiting, three had delayed recovery and one had laryngospasm. Conclusion: Outreach programmes can increase the efficacy of Smile Train Project and effective screening of patients before surgery can result in fruitful outcomes even in a rural set up

  5. The use of folic acid for the prevention of neural tube defects and other congenital anomalies.

    Science.gov (United States)

    Wilson, R Douglas; Davies, Gregory; Désilets, Valérie; Reid, Gregory J; Summers, Anne; Wyatt, Philip; Young, David

    2003-11-01

    To provide information regarding the use of folic acid for the prevention of neural tube defects (NTDs) and other congenital anomalies, in order that physicians, midwives, nurses, and other health-care workers can assist in the education of women in the preconception phase of their health care. OPTION: Folic acid supplementation is problematic, since 50% of pregnancies are unplanned and the health status of women may not be optimal. Folic acid supplementation has been proven to decrease or minimize specific birth defects. A systematic review of the literature, including review and peer-reviewed articles, government publications, the previous Society of Obstetricians and Gynaecologists of Canada (SOGC) Policy Statement of March 1993, and statements from the American College of Obstetrics and Gynecology, was used to develop a new clinical practice guideline for the SOGC. Peer-review process within the committee structure. The benefit is reduced lethal and severe morbidity birth defects and the harm is minimal. The personal cost is of vitamin supplementation on a daily basis and eating a healthy diet. 1. Women in the reproductive age group should be advised about the benefits of folic acid supplementation during wellness visits (birth control renewal, Pap testing, yearly examination), especially if pregnancy is contemplated. (III-A) 2. Women should be advised to maintain a healthy nutritional diet, as recommended in Canada's Food Guide to Healthy Eating (good or excellent sources of folic acid: broccoli, spinach, peas, Brussels sprouts, corn, beans, lentils, oranges). (III-A) 3. Women who could become pregnant should be advised to take a multivitamin containing 0.4 mg to 1.0 mg of folic acid daily. (II-1A) 4. Women taking a multivitamin with folic acid supplement should be advised not to take more than 1 daily dose of vitamin supplement, as indicated on the product label. (II-2A) 5. Women in intermediate- to high-risk categories for NTDs (NTD-affected previous

  6. Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

    Science.gov (United States)

    2017-02-16

    Congenital Fibrosis of Extraocular Muscles; Duane Retraction Syndrome; Duane Radial Ray Syndrome; Mobius Syndrome; Brown Syndrome; Marcus Gunn Syndrome; Strabismus Congenital; Horizontal Gaze Palsy; Horizontal Gaze Palsy With Progressive Scoliosis; Facial Palsy; Facial Paresis, Hereditary, Congenital; Third Nerve Palsy; Fourth Nerve Palsy; Sixth Nerve Palsy; Synkinesis; Ocular Motility Disorders; Levator-Medial Rectus Synkinesis; Athabaskan Brainstem Dysgenesis; Tongue Paralysis; Ninth Nerve Disorder; Fifth Nerve Palsy; Seventh Nerve Palsy; Eleventh Nerve Disorder; Twelfth Nerve Disorder; Vagus Nerve Paralysis; Moebius Sequence

  7. Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study

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    Garavelli Livia

    2009-02-01

    Full Text Available Abstract Background Waste incineration releases into the environment toxic substances having a teratogenic potential, but little epidemiologic evidence is available on this topic. We aimed at examining the relation between exposure to the emissions from a municipal solid waste incinerator and risk of birth defects in a northern Italy community, using Geographical Information System (GIS data to estimate exposure and a population-based case-control study design. By modelling the incinerator emissions, we defined in the GIS three areas of increasing exposure according to predicted dioxins concentrations. We mapped the 228 births and induced abortions with diagnosis of congenital anomalies observed during the 1998–2006 period, together with a corresponding series of control births matched for year and hospital of birth/abortion as well as maternal age, using maternal address in the first three months of pregnancy to geocode cases and controls. Results Among women residing in the areas with medium and high exposure, prevalence of anomalies in the offspring was substantially comparable to that observed in the control population, nor dose-response relations for any of the major categories of birth defects emerged. Furthermore, odds ratio for congenital anomalies did not decrease during a prolonged shut-down period of the plant. Conclusion Overall, these findings do not lend support to the hypothesis that the environmental contamination occurring around an incineration plant such as that examined in this study may induce major teratogenic effects.

  8. Prognosis and Risk Factors for Congenital Airway Anomalies in Children with Congenital Heart Disease: A Nationwide Population-Based Study in Taiwan.

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    Yu-Sheng Lee

    Full Text Available The mortality risk associated with congenital airway anomalies (CAA in children with congenital heart disease (CHD is unclear. This study aimed to investigate the factors associated with CAA, and the associated mortality risk, among children with CHD.This nationwide, population-based study evaluated 39,652 children with CHD aged 0-5 years between 2000 and 2011, using the Taiwan National Health Insurance Research Database (NHIRD. We performed descriptive, logistic regression, Kaplan-Meier, and Cox regression analyses of the data.Among the children with CHD, 1,591 (4.0% had concomitant CAA. Children with CHD had an increased likelihood of CAA if they were boys (odds ratio [OR], 1.48; 95% confidence interval [CI], 1.33-1.64, infants (OR, 5.42; 95%CI, 4.06-7.24, or had a congenital musculoskeletal anomaly (OR, 3.19; 95%CI, 2.67-3.81, and were typically identified 0-3 years after CHD diagnosis (OR, 1.33; 95%CI 1.17-1.51. The mortality risk was increased in children with CHD and CAA (crude hazard ratio [HR], 2.05; 95%CI, 1.77-2.37, even after adjusting for confounders (adjusted HR, 1.76; 95%CI, 1.51-2.04. Mortality risk also changed by age and sex (adjusted HR and 95%CI are quoted: neonates, infants, and toddlers and preschool children, 1.67 (1.40-2.00, 1.93 (1.47-2.55, and 4.77 (1.39-16.44, respectively; and boys and girls, 1.62 (1.32-1.98 and 2.01 (1.61-2.50, respectively.The mortality risk is significantly increased among children with CHD and comorbid CAA. Clinicians should actively seek CAA during the follow-up of children with CHD.

  9. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

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    Debangshu Ghosh

    2015-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

  10. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

    Science.gov (United States)

    Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

    2015-10-01

    Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

  11. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

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    Nadia Skauli

    2016-11-01

    Full Text Available Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3, characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

  12. Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

    Science.gov (United States)

    Kroes, H Y; Pals, G; van Essen, A J

    2003-03-01

    A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an esophageal atresia and hydrocephaly. Protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. However, DNA analysis of the COL3A1 gene revealed a pathogenic mutation (388G-->T) in both the mother and the son. The possible relationship between the observed congenital anomalies and EDS IV are discussed. We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis. Copyright Blackwell Munksgaard, 2003

  13. Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

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    Hoogeboom A Jeannette M

    2010-07-01

    Full Text Available Abstract Background Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. Results We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18 chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. Conclusions We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11.

  14. Peri-conception hyperglycaemia and nephropathy are associated with risk of congenital anomaly in women with pre-existing diabetes: a population-based cohort study.

    Science.gov (United States)

    Bell, R; Glinianaia, S V; Tennant, P W G; Bilous, R W; Rankin, J

    2012-02-08

    AIMS: The aim of this study was to quantify the risk of major congenital anomaly, and to assess the influence of peri-conception HbA(1c) and other clinical and socio-demographic factors on the risk of congenital anomaly occurrence in offspring of women with type 1 and type 2 diabetes diagnosed before pregnancy. METHODS: This was a population-based cohort study using linked data from registers of congenital anomaly and diabetes in pregnancy. A total of 401,149 singleton pregnancies (1,677 in women with diabetes) between 1996 and 2008 resulting in live birth, fetal death at ≥20 weeks' gestation or termination of pregnancy for fetal anomaly were included. RESULTS: The rate of non-chromosomal major congenital anomaly in women with diabetes was 71.6 per 1,000 pregnancies (95% CI 59.6, 84.9), a relative risk of 3.8 (95% CI 3.2, 4.5) compared with women without diabetes. There was a three- to sixfold increased risk across all common anomaly groups. In a multivariate analysis, peri-conception glycaemic control (adjusted OR [aOR] 1.3 [95% CI 1.2, 1.4] per 1% [11 mmol/mol] linear increase in HbA(1c) above 6.3% [45 mmol/mol]) and pre-existing nephropathy (aOR 2.5 [95% CI 1.1, 5.3]) were significant independent predictors of congenital anomaly. Associations with gestation at booking (aOR 1.1 [95% CI 1.0, 1.1]) and parity (aOR 1.6 [95% CI 1.0, 2. 5]) were not significant. Unadjusted risk was higher for women from deprived areas or who did not take folate. Type and duration of diabetes, ethnicity, age, BMI, preconception care, smoking and fetal sex were not associated with congenital anomaly risk. CONCLUSIONS: Peri-conception glycaemia is the most important modifiable risk factor for congenital anomaly in women with diabetes. The association with nephropathy merits further study.

  15. Imaging in congenital pulmonary vein anomalies: the role of computed tomography

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    Dyer, Kevin Todd; McQuiston, Andrew Douglas [Medical University of South Carolina, Department of Radiology and Radiological Science, Charleston, SC (United States); Hlavacek, Anthony Marcus; Pietris, Nicholas Peter [Medical University of South Carolina, Department of Radiology and Radiological Science, Charleston, SC (United States); Medical University of South Carolina, Division of Cardiology Department of Pediatrics, Charleston, SC (United States); Meinel, Felix Gabriel [Medical University of South Carolina, Department of Radiology and Radiological Science, Charleston, SC (United States); Ludwig-Maximilians-University Hospital, Institute for Clinical Radiology, Munich (Germany); De Cecco, Carlo Nicola [Medical University of South Carolina, Department of Radiology and Radiological Science, Charleston, SC (United States); University of Rome ' ' Sapienza' ' - Polo Pontino, Department of Radiological Sciences Oncology and Pathology, Latina (Italy); Schoepf, Uwe Joseph [Medical University of South Carolina, Division of Cardiology Department of Medicine, Charleston, SC (United States); Medical University of South Carolina, Department of Radiology and Radiological Science, Charleston, SC (United States); Medical University of South Carolina, Division of Cardiology Department of Pediatrics, Charleston, SC (United States)

    2014-09-15

    Pulmonary venous anomalies comprise a wide spectrum of anatomical variations and their clinical presentations may vary from the relatively benign single partial anomalous pulmonary venous connection (PAPVC) to the critical obstructed total anomalous pulmonary venous connection (TAPVC). We briefly review the common anomalies encountered, while highlighting the utility that computed tomographic angiography (CTA) provides for this spectrum of extracardiac vascular malformations and connections. CTA has established itself as an invaluable imaging modality in these patients. A detailed knowledge of the CTA imaging findings in pulmonary venous anomalies is crucial to guide clinical decision-making in these patients. (orig.)

  16. Uranium and other contaminants in hair from the parents of children with congenital anomalies in Fallujah, Iraq

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    Hamdan Malak

    2011-09-01

    Full Text Available Abstract Background Recent reports have drawn attention to increases in congenital birth anomalies and cancer in Fallujah Iraq blamed on teratogenic, genetic and genomic stress thought to result from depleted Uranium contamination following the battles in the town in 2004. Contamination of the parents of the children and of the environment by Uranium and other elements was investigated using Inductively Coupled Plasma Mass Spectrometry. Hair samples from 25 fathers and mothers of children diagnosed with congenital anomalies were analysed for Uranium and 51 other elements. Mean ages of the parents was: fathers 29.6 (SD 6.2; mothers: 27.3 (SD 6.8. For a sub-group of 6 women, long locks of hair were analysed for Uranium along the length of the hair to obtain information about historic exposures. Samples of soil and water were also analysed and Uranium isotope ratios determined. Results Levels of Ca, Mg, Co, Fe, Mn, V, Zn, Sr, Al, Ba, Bi, Ga, Pb, Hg, Pd and U (for mothers only were significantly higher than published mean levels in an uncontaminated population in Sweden. In high excess were Ca, Mg, Sr, Al, Bi and Hg. Of these only Hg can be considered as a possible cause of congenital anomaly. Mean levels for Uranium were 0.16 ppm (SD: 0.11 range 0.02 to 0.4, higher in mothers (0.18 ppm SD 0.09 than fathers (0.11 ppm; SD 0.13. The highly unusual non-normal Fallujah distribution mean was significantly higher than literature results for a control population Southern Israel (0.062 ppm and a non-parametric test (Mann Whitney-Wilcoxon gave p = 0.016 for this comparison of the distribution. Mean levels in Fallujah were also much higher than the mean of measurements reported from Japan, Brazil, Sweden and Slovenia (0.04 ppm SD 0.02. Soil samples show low concentrations with a mean of 0.76 ppm (SD 0.42 and range 0.1-1.5 ppm; (N = 18. However it may be consistent with levels in drinking water (2.28 μgL-1 which had similar levels to water from wells (2.72

  17. Individual variation in organ histogenesis as a causative factor in the developmental origins of health and disease: unnoticed congenital anomalies?

    Science.gov (United States)

    Otani, Hiroki; Udagawa, Jun; Hatta, Toshihisa; Kagohashi, Yukiko; Hashimoto, Ryuju; Matsumoto, Akihiro; Satow, Fumio; Nimura, Masayuki

    2010-12-01

    Morphological studies of congenital anomalies have mainly focused on abnormal shape (i.e. malformation) and thus on disturbed organogenesis. However, in regard to postnatal functions of organs that develop through branching mechanisms, organ size is another important morphological feature. These organs consist of a large number of structural and functional units, such as nephrons in the kidney, and the total number of these units, that is approximately proportional to the organ size, has been shown to vary widely among individuals. Organ-specific cells are differentiated and organized to form structural units and realize organ-specific functions during the histogenetic period (i.e. from mid-gestation to the early postnatal period). The total number of units is attained at the end of histogenesis and determines the total functional capacity, including the functional reserve of the organ, and thus may be related to predispositions to postnatal organ-based diseases, because the functional reserve decreases during the course of life and eventually become short of the minimum requirement of each organ. Therefore, it may be hypothesized that a smaller number of units of organs at the end of histogenesis is one of the predisposing factors for postnatal diseases (i.e. a form of unnoticed but late-manifested congenital anomalies), in this era of extended longevity. However, the mechanisms that control the total number of units in each organ during histogenesis and the possible relationship among the numbers of units in different organs remain unknown. Here, we review our trials based on the above hypothesis in order to (1) mathematically analyze the morphometric data of the different organs in fetuses to elucidate relationship among developing organs, (2) analyze the developing neuro-immuno-endocrine network as a series of mechanisms to systemically correlate the histogenesis of multiple organs, and (3) examine the maternal environment, including dietary fat, as a factor to

  18. Use of asthma medication during pregnancy and risk of specific congenital anomalies

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Morris, Joan

    2015-01-01

    of exposure to first-trimester use of inhaled β2-agonists compared with nonchromosomal control registrations. Odds of exposure to salbutamol were similar. Nonsignificant ORs of exposure to inhaled β2-agonists were found for spina bifida, cleft lip, anal atresia, severe congenital heart defects in general...

  19. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies

    DEFF Research Database (Denmark)

    Wemakor, Anthony; Casson, Karen; Garne, Ester

    2015-01-01

    Evidence of an association between early pregnancy exposure to selective serotonin reuptake inhibitors (SSRI) and congenital heart defects (CHD) has contributed to recommendations to weigh benefits and risks carefully. The objective of this study was to determine the specificity of association be...

  20. Anesthetic dilemma in planning bilateral cataract surgery for an infant associated with congenital cardiac anomaly

    Directory of Open Access Journals (Sweden)

    Devalina Goswami

    2015-01-01

    Full Text Available In a patient with tetralogy of Fallot (TOF and pulmonary atresia, treating the cardiac problem or the associated congenital illness is always a challenge. We describe the challenges and successful initial management of bilateral cataract to prevent visual loss in an infant with TOF with pulmonary atresia.

  1. Anesthetic dilemma in planning bilateral cataract surgery for an infant associated with congenital cardiac anomaly.

    Science.gov (United States)

    Goswami, Devalina; Seetharamaiah, Shwetha; Kedia, Sraban Kumar; Nayak, Bhagabat Kumar; Akshat, Shiv

    2015-06-01

    In a patient with tetralogy of Fallot (TOF) and pulmonary atresia, treating the cardiac problem or the associated congenital illness is always a challenge. We describe the challenges and successful initial management of bilateral cataract to prevent visual loss in an infant with TOF with pulmonary atresia.

  2. Epidemiology of congenital upper limb anomalies in Stockholm, Sweden, 1997 to 2007: application of the Oberg, Manske, and Tonkin classification.

    Science.gov (United States)

    Ekblom, Anna Gerber; Laurell, Tobias; Arner, Marianne

    2014-02-01

    To investigate the epidemiology of congenital upper limb anomalies (CULA) based on the newly proposed Oberg, Manske, and Tonkin (OMT) classification, to compare this classification with the International Federation of Societies for Surgery of the Hand (IFSSH) classification, and to provide incidence rates of the different CULA. In this study, the same 562 individuals with a CULA who were analyzed in a previous epidemiologic study based on the IFSSH classification were reclassified according to the OMT classification. All children identified with CULA and born in Stockholm County between January 1, 1997 and December 31, 2007 were included in the study. During the period there were 261,914 live births in Stockholm County, and the population of Stockholm County was 1,949,516 inhabitants at the end of the period. From medical records and available radiographs, all cases were analyzed regarding type of CULA, sex, affected side, associated nonhand anomalies, and occurrence among relatives. Individuals with right and left side anomalies belonging to different OMT subgroups were counted as 2 anomalies; thus, the material consisted of 577 CULA in 562 children. It was possible to organize all CULA into the OMT classification. The largest main category was malformations (429 cases), followed by deformations (124 cases), dysplasias (10 cases), and syndromes (14 cases). We present the relation between the IFSSH and OMT classifications, elucidate difficulties within the OMT classification, and propose additions to the classification. This study confirms that the OMT classification is useful and accurate, but also points out difficulties. With further refinements, we regard the OMT classification as a needed and appropriate replacement for the IFSSH classification. Diagnostic III. Copyright © 2014 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  3. IS CONSANGUINEOUS MARRIAGE RESPONSIBLE FOR CONGENITAL CARDIAC AND EXTRA-CARDIAC ANOMALIES?

    Directory of Open Access Journals (Sweden)

    Nutan Nalini

    2016-03-01

    Full Text Available BACKGROUND This article is about the stillbirth in which we found significant numbers of cardiac as well as extracardiac defects, in combination or separately. In this article, we would like to emphasize the anomalies found in consanguineous marriages. AIM To correlate the prevalence of cardiac as well as extracardiac anomalies in consanguineous marriages. Especially, here we would like to focus on the cardiac lesions. MATERIAL AND METHOD The study was carried out in 44 still birth foetuses with detailed account of parentage. Significant number of cases with cardiac and extracardiac anomalies was found. RESULTS Out of total 44 stillbirth foetuses, 13 stillbirths were from consanguineous marriages in which 09 had cardiac anomalies. Interrupted aortic arch-02, Abnormal origin of right Subclavian artery- 01, Tetralogy of Fallot- 01, VSD- 04, ASD-01. The extra cardiac findings included Gastroschisis-01, Anencephaly with spina bifida-01, cleft lip/palate-01, polydactyly and syndactyly of ring and little finger-01, limb deformity-01, hydrocephalus-01, craniothoracopagus-01. CONCLUSION Considering the high incidence of cardiac and extracardiac anomalies in consanguineous parentage we must try to create an awareness to avoid the practice of consanguineous marriages in society.

  4. The importance of social media for patients and families affected by congenital anomalies: A Facebook cross-sectional analysis and user survey.

    Science.gov (United States)

    Jacobs, Robyn; Boyd, Leanne; Brennan, Kirsty; Sinha, C K; Giuliani, Stefano

    2016-11-01

    We aimed to define characteristics and needs of Facebook users in relation to congenital anomalies. Cross-sectional analysis of Facebook related to four congenital anomalies: anorectal malformation (ARM), congenital diaphragmatic hernia (CDH), congenital heart disease (CHD) and hypospadias/epispadias (HS/ES). A keyword search was performed to identify relevant Groups/Pages. An anonymous survey was posted to obtain quantitative/qualitative data on users and their healthcare needs. 54 Groups and 24 Pages were identified (ARM: 10 Groups; CDH: 9 Groups, 7 Pages; CHD: 32 Groups, 17 Pages; HS/ES: 3 Groups), with 16,191 Group members and 48,766 Page likes. 868/1103 (79%) of respondents were parents. Male:female ratio was 1:10.9. 65% of the users were 26-40years old. Common reasons for joining these Groups/Pages included: seeking support, education, making friends, and providing support to others. 932/1103 (84%) would like healthcare professionals (HCPs) to actively participate in their Group. 31% of the respondents felt that they did not receive enough support from their healthcare system. 97% of the respondents would like to join a Group linked to their primary hospital. Facebook Groups/Pages related to congenital anomalies are highly populated and active. There is a need for HCPs and policy makers to better understand and participate in social media to support families and improve patient care. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. True oblique axis fracture associated with congenital anomalies of the upper cervical spine: Case report of an unusual fracture pattern

    Science.gov (United States)

    Robles, Luis A.

    2017-01-01

    Background: Acute traumatic axis fractures are common cervical spine injuries often caused by road accidents or falls. They are usually classified into three different types, namely, odontoid fractures, Hangman's fractures, and miscellaneous fractures. Congenital malformations of the craniovertebral junction (CVJ), although typically asymptomatic, may result in neural compression or instability, especially following trauma. Here, the authors present an unusual oblique axis fracture occurring in conjunction with several malformations of the upper cervical spine. Case Description: Following a motor vehicle accident, a 25-year-old female's radiographic studies showed an oblique axis fracture involving both the anterior and posterior elements along with an anterior and posterior Klippel–Feil syndrome (KFS) anomaly. Following treatment in a halo vest, the patient maintained alignment, and ultimately the fracture was fused. Conclusions: True oblique fractures of the axis are rare, as in the case presented, and may occasionally occur in conjunction with KFS of the upper cervical spine. PMID:28217386

  6. POTTER FACIES WITH POLYCYSTIC KIDNEY DISEASE IN ASS OCIATION WITH OTHER RARE CONGENITAL ANOMALIES: TWO CASE REPO RTS

    Directory of Open Access Journals (Sweden)

    Sudhanshu Kumar

    2013-04-01

    Full Text Available ABSTRACT: Potter's sequence is more appropriate terminology than potter facies, since not every individual with this syndrome has exactly the same set of symptoms and signs but they share a common chain of events triggered by differe nt causes, leading to the same endpoint of reduced or absent amniotic fluid. It has a charact eristic facial appearance associated with other abnormalities as Ophthalmic(Cataract, Cardiovascula r (Ventricular septal defect. Fallot's tetralogy, Patent ductus arteriosus, and muscu loskeletal (Clubbed feet, Sacral agenesis . Here we are presenting two cases of potter sequence due to polycystic kidney disease ( type-i in association with other congenital anomalies ( ab sence of left diaphragm ,pericardial effusion, pulmonary hypoplasia which is rare and incompatible to life

  7. Parenting an infant with a congenital anomaly: how are perceived burden and perceived personal benefits related to parenting stress?

    Science.gov (United States)

    Fonseca, Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

    2015-03-01

    This study aimed to characterize parents' negative (perceived burden) and positive (perceived personal benefits) perceptions about parenting an infant with a congenital anomaly (CA), and to investigate their role in parenting stress. Forty-three couples (43 mothers and 36 fathers) whose 6-month-old infants had a CA completed several questionnaires: the Impact on Family Scale-Revised, the Positive Contributions Scale, and the Parenting Stress Index-Short Form. The results showed similarities between maternal and paternal perceptions. For mothers, higher levels of burden and lower levels of personal benefits were found to predict higher levels of parenting stress. For fathers, greater burden was associated with higher levels of parenting stress. Some dimensions of personal benefits moderated the relationship between burden and parenting stress, for both genders. Specific strategies targeting negative and positive perceptions should be considered when developing psychological interventions to promote the family's adaptation to the experience of parenting an infant with a CA.

  8. Radiological imaging of congenital hand anomalies - a 6-year single-centre experience and what the hand surgeons want to know

    Energy Technology Data Exchange (ETDEWEB)

    Gerety, E.L.; Hopper, M.A. [Cambridge University Hospitals NHS Foundation Trust, Department of Radiology, Cambridge (United Kingdom); Grant, I. [Cambridge University Hospitals NHS Foundation Trust, Department of Plastic Surgery, Cambridge (United Kingdom)

    2014-12-19

    Congenital hand anomalies present a rare but important physical and emotional challenge for children and parents. Radiological imaging is important for accurate diagnosis, to aid decision making and to monitor changes in the growing hand. The goal of any treatment is to help the child achieve his/her maximum potential, to provide a useful hand with attention to cosmesis. We investigated the range of congenital hand anomalies imaged in a tertiary referral centre. We examined the timing of imaging and the key clinical questions. The radiology imaging system was searched retrospectively for radiographs of congenital hand anomalies over a 6-year period. The images were reviewed and patient demographics, diagnosis and other imaging recorded. Over 6 years, 85 patients had imaging. Twenty-three patients had bilateral problems and 11 had recognised syndromes. The most common abnormalities imaged were duplicated thumbs (28 %), followed by syndactyly (18 %). Children were first imaged as early as 1 day old, with the median age of initial imaging 12 months. Thumb duplication and syndactyly are the most common conditions for which radiographs are requested at our hospital, although overall syndactyly is considered the most common congenital hand anomaly. For a variety of reasons, children are often imaged very early, before review by the Specialist in Children's Hand Surgery (despite surgery being unlikely before 1 year of age.) We discuss the classification systems and specific issues that hand surgeons want to know from the radiologists. (orig.)

  9. Improvement of drug exposure data in a registration of congenital anomalies. Pilot-study : Pharmacist and mother as sources for drug exposure data during pregnancy

    NARCIS (Netherlands)

    Van den Berg, LTWDJ; Feenstra, N; Sorensen, HT; Cornel, MC

    1999-01-01

    We examined the possibilities of improving the retrospective collection of data an drug use during pregnancy. The European Registration of Congenital Anomalies (EUROCAT) has registered information on maternal drug exposure in the northern Netherlands through a question on the notification form for t

  10. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p

    Energy Technology Data Exchange (ETDEWEB)

    Leichtman, L.G.; Zackowski, J.L. [Virginia Medical School, Norfolk, VA (United States); Storto, P.D. [Michigan State Univ., East Lansing, MI (United States); Newlin, A. [Univ. of Chicago Eye Center, IL (United States)

    1996-06-14

    Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.

  11. Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

    NARCIS (Netherlands)

    Hwang, Daw Yang; Kohl, Stefan; Fan, Xueping; Vivante, Asaf; Chan, Stefanie; Dworschak, Gabriel C.; Schulz, Julian; van Eerde, Albertien M.; Hilger, Alina C.; Gee, Heon Yung; Pennimpede, Tracie; Herrmann, Bernhard G.; van de Hoek, Glenn; Renkema, Kirsten Y.; Schell, Christoph; Huber, Tobias B.; Reutter, Heiko M.; Soliman, Neveen A.; Stajic, Natasa; Bogdanovic, Radovan; Kehinde, Elijah O.; Lifton, Richard P.; Tasic, Velibor; Lu, Weining; Hildebrandt, Friedhelm

    2015-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40–50 % of chronic kidney disease that manifests in the first two decades of life. Thus far, 31 monogenic causes of isolated CAKUT have been described, explaining ~12 % of cases. To identify additional CAKUT-causing genes, we p

  12. Evaluation of complex congenital cardiovascular anomalies using new, continuous rotation CT

    Energy Technology Data Exchange (ETDEWEB)

    Yamada, Tetsuhisa; Harada, Junta; Tada, Shimpei

    1987-12-01

    The slip ring and nutate/rotate configuration of the new fourth generation CT (TCT-900S, Toshiba Medical Co.) makes it possible to scan 30 slices continuously within 90 seconds. This scanner also provides real time hemodynamic and multiplanar reconstruction images. Studies were performed on 17 cases with complex congenital cardiovascular abnormalities. The findings correlated very well with those of angiocardiography and echocardiography. Assessment of the valve itself, though, was difficult, and combined use with echocardiography was considered to be indispensable. The real time multiplanar images were very effective in depicting coarctation of the aortic isthmus, ductus arteriosus, hypoplasia of the pulmonary artery, and ventricular septal defects for newborns and infants with small target regions. Real time cine displays could clearly show small atrial septal defects. This CT system was effective in studying complex congenital cardiovascular diseases.

  13. The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs

    DEFF Research Database (Denmark)

    de Jong, Josta; Garne, Ester; de Jong-van den Berg, Lolkje T.W.;

    2016-01-01

    anomalies than the other newer AEDs. Four signals were found. The signals for associations between topiramate and cleft lip with/without cleft palate and hypospadias were considered strong. Associations between lamotrigine and anencephaly and transposition of great vessels were found within one study...

  14. Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification.

    Science.gov (United States)

    Baas, Martijn; Stubbs, Andrew P; van Zessen, David B; Galjaard, Robert-Jan H; van der Spek, Peter J; Hovius, Steven E R; van Nieuwenhoven, Christianne A

    2017-07-01

    Congenital upper-limb anomalies (CULA) can present as a part of a syndrome or association. There is a wide spectrum of CULA, each of which might be related to different diseases. The structure provided by the Oberg, Manske, and Tonkin (OMT) classification could aid in differential diagnosis formulation in patients with CULA. The aims of this study were to review the Human Phenotype Ontology (HPO) project database for diseases and causative genes related to the CULA described in the OMT classification and to develop a methodology for differential diagnosis formulation based on the observed congenital anomalies, CulaPhen. We reviewed the HPO database for all diseases, including causative genes related to CULA. All CULA were classified according to the OMT classification; associated non-hand phenotypes were classified into 12 anatomical groups. We analyzed the contribution of each anatomical group to a given disease and developed a tool for differential diagnosis formulation based on these contributions. We compared our results with cases from the literature and with a current HPO tool, Phenomizer. In total, 514 hand phenotypes were obtained, 384 of which could be classified in the OMT classification. A total of 1,403 diseases could be related to those CULA. A comparison with 10 recently published cases with CULA revealed that the presented phenotype matched the descriptions in our dataset. The differential diagnosis produced using our methodology was more accurate than Phenomizer in 4 of 5 examples. The OMT classification can be used to describe hand anomalies that may present in over 1,400 diseases. CulaPhen was developed to provide a (hand) phenotype-based differential diagnosis. Differential diagnosis formulation based on the proposed system outperforms the system in current use. This study illustrates that the OMT diagnoses, either individually or combined, can be cross-referenced with different diseases and syndromes. Therefore, use of the OMT classification can

  15. Diagnostic value and clinical problems of MR imaging in congenital anomalies of the central nervous system, 2. Spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Oi, Shizuo; Urui, Seishiro; Asano, Noboru; Masumura, Michio; Shose, Yoshiteru; Matsumoto, Satoshi

    1987-06-01

    Spina bifida and associated congenital anomalies in the central nervous system were evaluated by means of MRI, and the results compared with those obtained by conventional diagnostic procedures. Using the two-dimensional Fourier transform technique, a three-radiofrequency-pulse sequence (inversion recovery: IR 2100/500; spin-echo: SE 2100/40 or 2100/80) was routinely applied. Compared with X-ray CT, MR proved to be more accurate in the detection of the pathoanatomical relation between the lesion and the spinal cord, or that between the spinal dysraphic state and associated intracranial anomalies. MRI was also superior in the anatomical diagnosis of a spinal lipoma, a tethered cord, syringobulbia, syringomyelia, the Chiari anomaly, and so forth. The most considerable disadvantage of MRI in the diagnosis of the spina bifida is the poor information it provides about the bifid spine itself, but this information may be obtained by the use of conventional diagnostic procedures. Also, a regular-conducting MRI system is still insufficient to demonstrate the precise location of the canda equina nerve roots, especially in relation to a lipoma, although the spin-echo MR myelographic technique was helpful in demarcating the major structures, such as the lipoma and the cord. In syringomyelia and syringobulbia, further invasive study in analyzing the fluid dynamics is needed to determine the proper operative procedure. It was emphasized in this study that MRI is an extremely valuable diagnostic tool also in the diagnosis of spinal dysraphism, especially in the detection of a pathoanatomical structure, but can also be expected to be improved so as to make possible finer anatomical analysis and provide a higher quality of information on the fluid dynamics, at least so as to indicate operative procedures without any invasive methods. (J.P.N.).

  16. Macrodystrophia lipomatosa – MR imaging of a rare congenital anomaly: review of 3 cases

    Directory of Open Access Journals (Sweden)

    Pallavi Aga

    2010-12-01

    Full Text Available Macrodystrophia lipomatosa (MDL results from progressive overgrowth of all the mesenchymal elements, with a disproportionate increase in fibro-adipose tissue. This rare congenital abnormality occurs most frequently in the distribution of the median nerve in the upper, and medial plantar nerve in the lower, extremity. Excess of unencapsulated fibro-adipose tissue on magnetic resonance imaging (MRI is virtually diagnostic and can differentiate this entity from other diseases with similar presentations. Involvement of the ulnar aspect of the hand, though rare, has been described; however, the lateral aspect of the foot as seen in our second case has not been reported, to the best of our knowledge.

  17. [Congenital anomalies of the kidney and urinary tract. A vision for the paediatrician].

    Science.gov (United States)

    Palacios Loro, M L; Segura Ramírez, D K; Ordoñez Álvarez, F A; Santos Rodríguez, F

    2015-12-01

    The congenital abnormalities of kidney and urinary tract (CAKUT) are disorders with a high prevalence in the general population, with urinary tract dilations being the most frequent. CAKUT also account for the most important cause of chronic kidney disease in childhood. This paper focuses on the role of the primary care paediatrician in the diagnosis, assessment, and follow-up of children with CAKUT, with special emphasis on the associated urinary tract infections, the progression toward chronic renal failure, and the genetic basis. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  18. Agenesis of the lung--a rare congenital anomaly of the lung.

    Science.gov (United States)

    De, Arun

    2013-01-01

    Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of chronic lung infection for any congenital abnormality of the lung including aplasia of the lung. This case also emphasizes that mildness of the attack does not exclude right sided aplasia of the lung.

  19. Agenesis of the Lung: A Rare Congenital Anomaly of the Lung

    Directory of Open Access Journals (Sweden)

    Arun De

    2013-01-01

    Full Text Available Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of chronic lung infection for any congenital abnormality of the lung including aplasia of the lung. This case also emphasizes that mildness of the attack does not exclude right sided aplasia of the lung.

  20. Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

    OpenAIRE

    Konrad, H; Merriam, J C; I. S. Jones

    1995-01-01

    PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature since the original description of cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the inc...

  1. Selective Serotonin Reuptake Inhibitor (SSRI) Antidepressants in Pregnancy and Congenital Anomalies: Analysis of Linked Databases in Wales, Norway and Funen, Denmark

    Science.gov (United States)

    Morris, Joan K.; Davies, Gareth I.; Tucker, David; Thayer, Daniel S.; Luteijn, Johannes M.; Morgan, Margery; Garne, Ester; Hansen, Anne V.; Klungsøyr, Kari; Engeland, Anders; Boyle, Breidge; Dolk, Helen

    2016-01-01

    Background Hypothesised associations between in utero exposure to selective serotonin reuptake inhibitors (SSRIs) and congenital anomalies, particularly congenital heart defects (CHD), remain controversial. We investigated the putative teratogenicity of SSRI prescription in the 91 days either side of first day of last menstrual period (LMP). Methods and Findings Three population-based EUROCAT congenital anomaly registries- Norway (2004–2010), Wales (2000–2010) and Funen, Denmark (2000–2010)—were linked to the electronic healthcare databases holding prospectively collected prescription information for all pregnancies in the timeframes available. We included 519,117 deliveries, including foetuses terminated for congenital anomalies, with data covering pregnancy and the preceding quarter, including 462,641 with data covering pregnancy and one year either side. For SSRI exposures 91 days either side of LMP, separately and together, odds ratios with 95% confidence intervals (ORs, 95%CI) for all major anomalies were estimated. We also explored: pausing or discontinuing SSRIs preconception, confounding, high dose regimens, and, in Wales, diagnosis of depression. Results were combined in meta-analyses. SSRI prescription 91 days either side of LMP was associated with increased prevalence of severe congenital heart defects (CHD) (as defined by EUROCAT guide 1.3, 2005) (34/12,962 [0.26%] vs. 865/506,155 [0.17%] OR 1.50, 1.06–2.11), and the composite adverse outcome of 'anomaly or stillbirth' (473/12962, 3.65% vs. 15829/506,155, 3.13%, OR 1.13, 1.03–1.24). The increased prevalence of all major anomalies combined did not reach statistical significance (3.09% [400/12,962] vs. 2.67% [13,536/506,155] OR 1.09, 0.99–1.21). Adjusting for socio-economic status left ORs largely unchanged. The prevalence of anomalies and severe CHD was reduced when SSRI prescriptions were stopped or paused preconception, and increased when >1 prescription was recorded, but differences were

  2. Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina; Tortora, Domenico; Rossi, Andrea [Istituto Giannina Gaslini, Neuroradiology Unit, Genova (Italy); Pistorio, Angela [Istituto Giannina Gaslini, Epidemiology and Biostatistics Unit, Genoa (Italy); Ramenghi, Luca Antonio [Istituto Giannina Gaslini, Neonatal Intensive Care Unit, Genoa (Italy); Napoli, Flavia [Istituto Giannina Gaslini, Endocrinology Unit, Genoa (Italy); Mancardi, Maria Margherita [Istituto Giannina Gaslini, Neuropsychiatry Unit, Genoa (Italy); Striano, Pasquale [Istituto Giannina Gaslini, Paediatric Neurology and Muscular Diseases Unit, Genoa (Italy); Capra, Valeria [Istituto Giannina Gaslini, Genetic Unit, Genoa (Italy)

    2016-01-15

    We aimed to describe the clinico-radiological findings of patients with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning. We reviewed the DMJ anatomy of 445 patients with brain malformations. Associated supra/infratentorial abnormalities and clinical findings were noted. Craniocaudal and anteroposterior diameters of midbrain, pons, medulla, vermis, and transverse cerebellar diameter were compared with age-matched controls. Post hoc tests were corrected according to Bonferroni (p{sub B}). Two patterns of DMJ anomaly were identified in 12 patients (7 females, mean age 41 months). Type A was characterized by hypothalamic-mesencephalic fusion on axial plane, with possible midbrain ventral cleft (7 patients). Anteroposterior (p{sub B} =.006) and craniocaudal (p{sub B} =.027) diameters of the pons, craniocaudal diameter of the vermis (p{sub B} =.015), and transverse cerebellar diameter (p{sub B} =.011) were smaller than the controls. Corticospinal tract, basal ganglia, and commissural anomalies were also associated. Clinical findings included spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy, and severe developmental delay. Type B was characterized by incomplete thalamic-mesencephalic cleavage on sagittal plane, with parenchymal bands connecting the interthalamic adhesion with the midbrain (five patients). Anteroposterior diameters of midbrain (p{sub B} =.002), pons (p{sub B} =.0004), and medulla (p{sub B} =.002) as well as the vermian anteroposterior (p{sub B} =.040) and craniocaudal diameters (p{sub B} =.014) were smaller than the controls. These patients were less neurologically impaired, most presenting mild developmental delay. The spectrum of DMJ patterning defects is wide and may be associated with several brain malformations. Infratentorial brain structures should be carefully evaluated to better define the type of associated midbrain-hindbrain anomalies. (orig.)

  3. Congenital Microtia Treated at Sapporo Medical University Hospital: Clinical Characteristics and Associated Anomalies.

    Science.gov (United States)

    Ogasawara, Noriko; Jitsukawa, Sumito; Takahashi, Nozomi; Takano, Kenichi; Himi, Tetsuo

    2016-01-01

    Seventy-three children who underwent plastic surgery for their external ear malformations between December 2010 and May 2013 at the Sapporo Medical University Hospital were evaluated. The predominance of right-sided malformation (62%) in males (71%) was similar to that reported previously, but the number of bilateral cases (9.3%) was lower than that in previous reports. We classified patients' ears using Marx's classification. The pure-tone average (average air conduction thresholds measured at 500, 1,000 and 2,000 Hz) was used as the representative value for the hearing level, which was compared with a patient's Marx classification. We evaluated the facial nerve position using high-resolution computed tomography scans. A thorough understanding of anatomical variations and complications, as well as performing appropriate treatments, is required for otolaryngologists to effectively manage congenital microtia.

  4. Gastric serosal tear due to congenital pyloric atresia: A rare anomaly, a rare complication

    Directory of Open Access Journals (Sweden)

    Mithat Gunaydin

    2011-01-01

    Full Text Available Congenital pyloric atresia (CPA is a very rare malformation with unknown aetiology. It has has numerous complications including gastric perforation, aspiration pneumonia. Gastric perforations in newborns occur by three mechanisms: trauma, ischaemia, or spontaneous. Here, we report a newborn with CPA presenting with gastric serosal tearing without full-cut gastric perforation. The diagnosis was confirmed with the help of plain abdominal radiograph, ultrasound, contrast-study, and at operation. Treatment of CPA is surgery irrespective of the type of atresia. We performed serosa repair and then the solid, cord-like atretic pylorus was excised with accompanying gastroduodenostomy. Our patient had an uneventful course and was discharged at the end of the second postoperative week.

  5. Risk of congenital anomalies associated with antithyroid treatment during pregnancy: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Xiang Li

    2015-06-01

    Full Text Available To evaluate the association of either propylthiouracil or methimazole treatment for hyperthyroidism during pregnancy with congenital malformations, relevant studies were identified by searching Medline, PubMed, the Cochrane Library and EMBASE. We intended to include randomized controlled trials, but no such trials were identified. Thus, we included cohort studies and case-control studies in this meta-analysis. A total of 7 studies were included in the meta-analyses. The results revealed an increased risk of birth defects among the group of pregnant women with hyperthyroidism treated with methimazole compared with the control group (odds ratio 1.76, 95% confidence interval 1.47-2.10 or the non-exposed group (odds ratio 1.71, 95% confidence interval 1.39-2.10. A maternal shift between methimazole and propylthiouracil was associated with an increased odds ratio of birth defects (odds ratio 1.88, 95% confidence interval 1.27-2.77. An equal risk of birth defects was observed between the group of pregnant women with hyperthyroidism treated with propylthiouracil and the non-exposed group (odds ratio 1.18, 95% confidence interval 0.97-1.42. There was only a slight trend towards an increased risk of congenital malformations in infants whose mothers were treated with propylthiouracil compared with in infants whose mothers were healthy controls (odds ratio 1.29, 95% confidence interval 1.07-1.55. The children of women receiving methimazole treatment showed an increased risk of adverse fetal outcomes relative to those of mothers receiving propylthiouracil treatment. We found that propylthiouracil was a safer choice for treating pregnant women with hyperthyroidism according to the risk of birth defects but that a shift between methimazole and propylthiouracil failed to provide protection against birth defects.

  6. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

    Science.gov (United States)

    Hwang, Daw-Yang; Kohl, Stefan; Fan, Xueping; Vivante, Asaf; Chan, Stefanie; Dworschak, Gabriel C; Schulz, Julian; van Eerde, Albertien M; Hilger, Alina C; Gee, Heon Yung; Pennimpede, Tracie; Herrmann, Bernhard G; van de Hoek, Glenn; Renkema, Kirsten Y; Schell, Christoph; Huber, Tobias B; Reutter, Heiko M; Soliman, Neveen A; Stajic, Natasa; Bogdanovic, Radovan; Kehinde, Elijah O; Lifton, Richard P; Tasic, Velibor; Lu, Weining; Hildebrandt, Friedhelm

    2015-08-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40-50% of chronic kidney disease that manifests in the first two decades of life. Thus far, 31 monogenic causes of isolated CAKUT have been described, explaining ~12% of cases. To identify additional CAKUT-causing genes, we performed whole-exome sequencing followed by a genetic burden analysis in 26 genetically unsolved families with CAKUT. We identified two heterozygous mutations in SRGAP1 in 2 unrelated families. SRGAP1 is a small GTPase-activating protein in the SLIT2-ROBO2 signaling pathway, which is essential for development of the metanephric kidney. We then examined the pathway-derived candidate gene SLIT2 for mutations in cohort of 749 individuals with CAKUT and we identified 3 unrelated individuals with heterozygous mutations. The clinical phenotypes of individuals with mutations in SLIT2 or SRGAP1 were cystic dysplastic kidneys, unilateral renal agenesis, and duplicated collecting system. We show that SRGAP1 is expressed in early mouse nephrogenic mesenchyme and that it is coexpressed with ROBO2 in SIX2-positive nephron progenitor cells of the cap mesenchyme in developing rat kidney. We demonstrate that the newly identified mutations in SRGAP1 lead to an augmented inhibition of RAC1 in cultured human embryonic kidney cells and that the SLIT2 mutations compromise the ability of the SLIT2 ligand to inhibit cell migration. Thus, we report on two novel candidate genes for causing monogenic isolated CAKUT in humans.

  7. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

    Science.gov (United States)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    2012-05-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

  8. Role of connexins in human congenital heart disease: the chicken and egg problem

    Directory of Open Access Journals (Sweden)

    Aida eSalameh

    2013-06-01

    Full Text Available Inborn cardiac diseases are among the most frequent congenital anomalies and are the main cause of death in infants within the first year of age in industrialized countries when not adequately treated. They can be divided into simple and complex cardiac malformations. The former ones, for instance atrial and ventricular septal defects, valvular or subvalvular stenosis or insufficiency account for up to 80% of cardiac abnormalities. The latter ones, for example transposition of the great vessels, Tetralogy of Fallot or Shone's anomaly often do not involve only the heart but also the great vessels and although occurring less frequently these severe cardiac malformations will become symptomatically within the first months of age and have a high risk of mortality if the patients remain untreated. In the last decade there is increasing evidence that cardiac gap junction proteins, the connexins (Cx, might have an impact on cardiac anomalies. In the heart mainly three of them (Cx40, Cx43 and Cx45 are differentially expressed with regard to temporal organogenesis and to their spatial distribution in the heart. These proteins, forming gap junction channels, are most important for a normal electrical conduction and coordinated synchronous heart muscle contraction and also for the normal embryonic development of the heart. Animal and also some human studies revealed that at least in some cardiac malformations alterations in certain gap junction proteins are present but until today no particular gap junction mutation could be assigned to a specific cardiac anomaly. As gap junctions transmit growth and differentiation signals from cell to cell it is reasonable to assume that they are somehow involved in misdirected growth present in many inborn heart diseases playing a primary or contributory role. This review addresses potential role of gap junctions in the development of inborn heart anomalies like the conotruncal heart defects.

  9. Role of connexins in human congenital heart disease: the chicken and egg problem.

    Science.gov (United States)

    Salameh, Aida; Blanke, Katja; Daehnert, Ingo

    2013-01-01

    Inborn cardiac diseases are among the most frequent congenital anomalies and are the main cause of death in infants within the first year of age in industrialized countries when not adequately treated. They can be divided into simple and complex cardiac malformations. The former ones, for instance atrial and ventricular septal defects, valvular or subvalvular stenosis or insufficiency account for up to 80% of cardiac abnormalities. The latter ones, for example transposition of the great vessels, Tetralogy of Fallot or Shone's anomaly often do not involve only the heart, but also the great vessels and although occurring less frequently, these severe cardiac malformations will become symptomatic within the first months of age and have a high risk of mortality if the patients remain untreated. In the last decade, there is increasing evidence that cardiac gap junction proteins, the connexins (Cx), might have an impact on cardiac anomalies. In the heart, mainly three of them (Cx40, Cx43, and Cx45) are differentially expressed with regard to temporal organogenesis and to their spatial distribution in the heart. These proteins, forming gap junction channels, are most important for a normal electrical conduction and coordinated synchronous heart muscle contraction and also for the normal embryonic development of the heart. Animal and also some human studies revealed that at least in some cardiac malformations alterations in certain gap junction proteins are present but until today no particular gap junction mutation could be assigned to a specific cardiac anomaly. As gap junctions have often been supposed to transmit growth and differentiation signals from cell to cell it is reasonable to assume that they are somehow involved in misdirected growth present in many inborn heart diseases playing a primary or contributory role. This review addresses the potentional role of gap junctions in the development of inborn heart anomalies like the conotruncal heart defects.

  10. Decrease of perinatal mortality associated with congenital anomalies after prenatal screening was introduced in the Netherlands

    DEFF Research Database (Denmark)

    Faber, H. H.; Bouman, K.; Walle, H. E. K.

    2015-01-01

    decreased in the northern Netherlands since 2005. The introduction of prenatal screening in 2007 markedly contributed to this trend: pregnancies involving CA were terminated more often, leading to a decrease in the perinatal mortality rate. By 2011, the perinatal mortality rate associated with CA...... and stillbirths from 20 weeks' gestation onwards, excluding terminations of pregnancy for foetal anomalies (TOPFA). RESULTS: A total of 84.832 cases of CA were included from 13 European registries covering a total of 3.1million births. In Europe the perinatalmortality associated with CA decreased from an average...... in the Netherlands until 2007. We have analysed data for a 14-year period from the EUROCAT registries to investigate the effect of the introduction of screening for CA on the perinatal mortality rate in the Netherlands and compared the results with those from other European registries. METHODS: We used data from...

  11. Parental psychological distress and confidence after an infant's birth: the role of attachment representations in parents of infants with congenital anomalies and parents of healthy infants.

    Science.gov (United States)

    Fonseca, Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

    2013-06-01

    The present study aimed to examine parental psychological distress and confidence after an infant's birth, when parenting an infant with a diagnosis of a congenital anomaly, and to understand the role of attachment representations on parental adjustment. Parents of infants with a congenital anomaly (44 couples) and parents of healthy infants (46 couples) completed measures of adult attachment representations and of psychological distress and parental confidence (one month after the infant's birth). Results showed no group differences in psychological distress. Mothers in the clinical group presented lower confidence than mothers in the comparison group, while for fathers the inverse pattern was found, showing their involvement in the caretaking of the infant. Insecure attachment representations predicted parental psychological distress, and a moderator role of group was found only for fathers. These results highlight the role of secure attachment representations as an individual resource in stress-inducing situations.

  12. Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract

    Directory of Open Access Journals (Sweden)

    Geisilaine Soares dos Reis

    2014-01-01

    Full Text Available OBJECTIVE: To determine the frequency of different phenotypes for congenital anomalies of the kidney and urinary tract (CAKUT in a Brazilian sample, and to evaluate the association between the CAKUT phenotypes and the BMP4 gene. METHODS: In this study, 457 Brazilian individuals were analyzed in an attempt to establish the association between the BMP4 gene and the CAKUT diagnosis. A case-control sample was genotyped for three BMP4 gene polymorphisms. RESULTS: Association data was established with CAKUT sample as a whole and with the three most important CAKUT phenotypes: multicystic dysplastic kidney disease (MDK, ureteropelvic junction obstruction (UPJO and vesicoureteral reflux (VUR. When the sample was segregated in these three phenotypes, associations between the BMP4 gene were observed with UPJO and with MDK. Conversely, VUR was not associated to the polymorphisms of the BMP4 gene. CONCLUSIONS: The present data suggest that Brazilian individuals with polymorphisms of the BMP4 gene have a higher risk to develop CAKUT, especially the malformations related to nephrogenesis and initial branching such as MDK and UPJO. Conversely, VUR appeared not to be related to BMP4 gene.

  13. Radiation induced cutaneous ulcer on the back in a patient with congenital anomaly of the upper cava system.

    Science.gov (United States)

    Jeskowiak, Antonia; Hubmer, Martin; Prenner, Guenther; Maechler, Heinrich

    2011-02-01

    Recent years have seen the introduction of a number of additive diagnostic and therapeutic procedures in invasive cardiology. Cardiac catheterization procedures using fluoroscopy reduce patient morbidity and mortality compared to conventional surgical interventions. The associated radiation exposure for the patient is, however, often underestimated, while implantation of cardiac resynchronization therapy (CRT) and/or implantable cardioverter defibrillator (ICD) pacemaker systems sometimes entails even higher radiation exposures due to prolonged fluoroscopic studies. Radiation induced skin injuries including ulceration are mainly dose dependent effects of ionizing radiation and can be acute, subacute or chronic. The time between radiation exposure and manifestation of skin injuries varies greatly, from a few days up to months or even years. We report a 54-year-old male patient who presented to the Department of Dermatology in the year 2006, with erythema in the interscapular area associated with occasional pruritus. His medical report included several diagnostic cardiac catheterization procedures. Several attempts to implant CRT and ICD had failed owing to an undetected congenital anomaly of the upper vena cava system; these attempts had entailed prolonged fluoroscopy. The patient's history, clinical presentation and histopathological findings finally led to the diagnosis of radiation induced cutaneous ulcer.

  14. Congenital anomalies, hereditary diseases of the pancreas, acute and chronic pancreatitis; Entwicklungsstoerungen, angeborene Erkrankungen des Pankreas, akute und chronische Pankreatitis

    Energy Technology Data Exchange (ETDEWEB)

    Brambs, Hans-Juergen; Juchems, Markus [Universitaetsklinikum Ulm (Germany). Abt. fuer Diagnostische und Interventionelle Radiologie

    2011-06-15

    The most important congenital anomalies include pancreas divisum, annular pancreas and ectopic pancreas. Patients with pancreas divisum may be more susceptible to acute or chronic pancreatitis and patients with an annular pancreas may develop duodenal stenosis. In pancreas divisum the key finding is the visualization of the main duct draining into the duodenum via the small papilla, separated from the common bile duct. Annular pancreas may show as a well defined ring of pancreatic tissue that encircles the duodenum. Ectopic pancreas is usually asymptomatic but may give rise to abdominal complaints and may be confused with submucosal tumors. Acute pancreatitis is classified as mild or severe. In mild forms ultrasound is the imaging modality of choice whereas in severe forms with extensive pancreatic and peripancreatic necroses computed tomography is the favored method. It is crucial to identify signs and criteria that come along with an increased risk of infection of the necroses. MRI plays an inferior role in the assessment of acute pancreatitis. Chronic pancreatitis is a longstanding inflammatory and fibrosing process causing pain and loss of function. Cross-section imaging is particularly in demand for the detection of complications and the differentiation from pancreatic cancer. Autoimmune pancreatitis is a unique form of chronic pancreatitis characterized by lymphoplasmacytic infiltration and fibrosis, and favourable response to corticosteroid treatment. (orig.)

  15. Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.

    Directory of Open Access Journals (Sweden)

    Lisa S Andersson

    Full Text Available Equine Multiple Congenital Ocular Anomalies (MCOA syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic cause of MCOA syndrome we sequenced the entire previously characterized 208 kilobase region on chromosome 6 in ten individuals; five MCOA affected horses from three different breeds, one horse with the intermediate Cyst phenotype and four unaffected controls from two different breeds. This was performed using Illumina TruSeq technology with paired-end reads. Through the systematic exclusion of all polymorphisms barring two SNPs in PMEL, a missense mutation previously reported to be associated with the silver coat colour and a non-conserved intronic SNP, we establish that this gene is responsible for MCOA syndrome. Our finding, together with recent advances that show aberrant protein function due to the coding mutation, suggests that the missense mutation is causative and has pleiotrophic effect, causing both the horse silver coat color and MCOA syndrome.

  16. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.

    Science.gov (United States)

    Hou, Wen-Chien; Chen, Chih-Ping; Hwang, Kwei-Shuai; Chen, Ying-Chieh; Lai, Yu-Ju; Tien, Chau-Yang; Su, Her-Young

    2014-12-01

    We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion. Copyright © 2014. Published by Elsevier B.V.

  17. First Trimester Exposure to Anxiolytic and Hypnotic Drugs and the Risks of Major Congenital Anomalies: A United Kingdom Population-Based Cohort Study

    OpenAIRE

    2014-01-01

    BACKGROUND: Despite their widespread use the effects of taking benzodiazepines and non-benzodiazepine hypnotics during pregnancy on the risk of major congenital anomaly (MCA) are uncertain. The objectives were to estimate absolute and relative risks of MCAs in children exposed to specific anxiolytic and hypnotic drugs taken in the first trimester of pregnancy, compared with children of mothers with depression and/or anxiety but not treated with medication and children of mothers without diagn...

  18. Congenital anomalies of coronary arteries: role in the pathogenesis of sudden cardiac death.

    Science.gov (United States)

    Cheitlin, Melvin D; MacGregor, John

    2009-06-01

    After hypertrophic cardiomyopathy, coronary artery anomalies of origin from the wrong sinus of Valsalva are the second most common cause of sudden death on the athletic field in the USA. Although the right coronary artery arising from the left coronary sinus (ARCA) is four times as common as the left coronary artery arising from the anterior sinus (ALCA), it is the latter that is by far the more common cause of sudden death with or shortly after vigorous physical activity. Of the four types of ALCA, the interarterial type, where the left coronary artery passes anteriorly between the aorta and the right ventricular outflow tract, is the only type that places the patient at risk of sudden death. Another feature of this syndrome is the fact that sudden death occurs associated with or shortly after vigorous exercise and is very unusual after the patient is > 35 years of age. The mechanism by which there is sudden occlusion of the interarterial coronary artery is at present unknown, although there are a number of hypotheses involving the oblique passage of the vessel as it leaves the aorta. Sudden death is probably rare considering the number of people who have these anomalies. Symptoms premonitory to a fatal event such as exertional syncope, chest pain, or palpitations are probably common in patients at risk, and surgical correction is indicated in symptomatic patients at any age. In older asymptomatic patients, surgery is not recommended, since the incidence of sudden death in this age group is extremely small. In asymptomatic young patients, a stress test, preferably with radioisotope myocardial perfusion imaging or stress echocardiogram, should be done and surgical correction performed in those with ischemia provoked in the appropriate myocardial region. Since there is evidence that in patients who have survived a potentially fatal event, it is rare to be able to provoke ischemia with equal or greater exercise than had precipitated the malignant arrhythmia, the

  19. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.

    Science.gov (United States)

    Sagoo, Gurdeep S; Butterworth, Adam S; Sanderson, Simon; Shaw-Smith, Charles; Higgins, Julian P T; Burton, Hilary

    2009-03-01

    Array-based comparative genomic hybridization is being increasingly used in patients with learning disability (mental retardation) and congenital anomalies. In this article, we update our previous meta-analysis evaluating the diagnostic and false-positive yields of this technology. An updated systematic review and meta-analysis was conducted investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic analyses have proven negative. Nineteen studies (13,926 patients) were included of which 12 studies (13,464 patients) were published since our previous analysis. The overall diagnostic yield of causal abnormalities was 10% (95% confidence interval: 8-12%). The overall number needed to test to identify an extra causal abnormality was 10 (95% confidence interval: 8-13). The overall false-positive yield of noncausal abnormalities was 7% (95% confidence interval: 5-10%). This updated meta-analysis provides new evidence to support the use of array-based comparative genomic hybridization in investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic tests have proven negative. However, given that this technology also identifies false positives at a similar rate to causal variants, caution in clinical practice should be advised.

  20. 先天性脊柱畸形和椎管内异常%Intraspinal Anomalies and Congenital Deformities of the Spine

    Institute of Scientific and Technical Information of China (English)

    王尚昆; 崔宽龙; 刘振堂

    1987-01-01

    Of 210 patients with congenital deformities of the spine, 21 (10%) were with congenital intraspinal anomalies, 15 of them with disste-matomyelia, 4 dermoid cyst, I neurenteric cyst and 1 arachnoid cyst. In most cases there were nervous functional disturbances. Therefore, a routine myelography, accurate diagnosis of in-traspiaal anomalies should be made before any correction of congenital spinal deformities. As for intraspinal anomalies.they should.be treated before the correction.%在210例先天性脊柱畸形中,有21例发现有椎管内异常.在这些异常中,以脊髓纵裂多见(15例),其他较少见的异常单独存在或与脊髓纵裂伴发,计有皮样囊肿4例(其中1例与脊髓纵裂并存),肠原性囊肿1例,蛛网膜囊肿1例,均经手术及病理证实.本文详细描述了椎管内异常的临床表现、X线检查、诊断、鉴别要点及治疗原则.

  1. Anomalias congênitas em fetos bovinos abortados no Sul do Brasil Congenital anomalies in aborted bovine fetuses in Southern Brazil

    Directory of Open Access Journals (Sweden)

    Saulo P. Pavarini

    2008-03-01

    Full Text Available Abortos e mortes neonatais são causas importantes de perdas reprodutivas na bovinocultura. Abortos causados por anomalias congênitas são esporádicos, mas podem ocorrer de forma epidêmica. Um levantamento retrospectivo realizado no setor de Patologia Veterinária da Universidade Federal do Rio Grande do Sul incluiu 307 casos de aborto bovino submetidos de setembro de 2001 a março de 2007. Em dez casos (3,5%, foram observadas anomalias congênitas, das quais, artrogripose, Amorphus globosus e fenda palatina (palatosquise foram as mais freqüentes. Causas infecciosas foram investigadas, mas somente infecção por BVDV foi detectada por imunoistoquímica em um aborto com porencefalia.Abortion, stillbirth and neonatal death are important causes of production losses to the livestock industry. Abortions caused by congenital anomalies may occur sporadically, or appear in epidemics. This retrospective study was conducted at Laboratory of Veterinary Pathology of Federal University of Rio Grande do Sul, and included 307 cases of bovine abortion submitted for diagnosis from September 2001 to March 2007. Most of them were from southern Brazil. Ten cases (3.25% of congenital anomalies were seen. The most frequent congenital anomalies were artrogryposis, Amorphous globosus, and cleft palate (palatoschisis. Infectious causes were investigated, but only BVDV infection was detected by immunohistochemistry in one case, which was affected with porencephalia.

  2. A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies

    Science.gov (United States)

    Ma, Ruiyu; Deng, Linbei; Xia, Yan; Wei, Xianda; Cao, Yingxi; Guo, Ruolan; Zhang, Rui; Guo, Jing; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Copy number variation (CNV) is of great significance in human evolution and disorders. Through tracing the parent-of-origin of de novo pathogenic CNVs, we are expected to investigate the relative contributions of germline genomic stability on reproductive health. In our study, short tandem repeat (STR) and single nucleotide polymorphism (SNP) were used to determine the parent-of-origin of 87 de novo pathogenic CNVs found in unrelated patients with intellectual disability (ID), developmental delay (DD) and multiple congenital anomalies (MCA). The results shown that there was a significant difference on the distribution of the parent-of-origin for different CNVs types (Chi-square test, p = 4.914 × 10−3). An apparently paternal bias existed in deletion CNVs and a maternal bias in duplication CNVs, indicating that the relative contribution of paternal germline variations is greater than that of maternal to the origin of deletions, and vice versa to the origin of duplications. By analyzing the sequences flanking the breakpoints, we also confirmed that non-allelic homologous recombination (NAHR) served as the major mechanism for the formation of recurrent CNVs whereas non-SDs-based mechanisms played a part in generating rare non-recurrent CNVs and might relate to the paternal germline bias in deletion CNVs.

  3. Clinical importance of congenital anomalies of the inferior vena cava in organ procurement surgery from a deceased donor: two case reports.

    Science.gov (United States)

    Kim, Mi-Hyeong; Jun, Kang-Woong; Moon, In-Sung; Kim, Ji-Il

    2016-11-01

    Congenital anomalies of the inferior vena cava (IVC) are rare but important problems in living donors for kidney transplantation, especially in cases of a short left renal vein and accompanying vascular and urological anatomic variations. However, the clinical impacts of IVC anomalies in deceased donors have yet to be reported. The unexpected presence of an IVC in an unusual position poses challenges to surgeons and increases the risk of bleeding during organ removal. Accompanying vascular variations can cause unexpected bleeding and injury and therefore technical complications in procurement and subsequent implantation. During cold perfusion, inadequate venous drainage or insufficient cooling can induce graft damage. Our cases highlight the need for all transplant surgeons to confirm the anatomy of the aorta, IVC, and major vessels early in the surgical procedure and, should an anomaly be detected, know how to manage the problem.

  4. Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6

    Directory of Open Access Journals (Sweden)

    Ewart Susan

    2008-12-01

    Full Text Available Abstract Background Equine Multiple Congenital Ocular Anomalies (MCOA syndrome consists of a diverse set of abnormalities predominantly localized to the frontal part of the eye. The disease is in agreement with a codominant mode of inheritance in our horse material. Animals presumed to be heterozygous for the mutant allele have cysts originating from the temporal ciliary body, peripheral retina and/or iris. In contrast, animals predicted to be homozygous for the disease-causing allele possess a wide range of multiple abnormalities, including iridociliary and/or peripheral retinal cysts, iridocorneal angle abnormalities, cornea globosa, iris hypoplasia and congenital cataracts. MCOA is most common in the Rocky Mountain horse breed where it occurs at a high frequency among Silver colored horses. The Silver coat color is associated with mutations in PMEL17 that resides on ECA6q23. To map the MCOA locus we analyzed 11 genetic markers on ECA6q and herein describe a chromosome interval for the MCOA locus. Results We performed linkage analysis within 17 paternal half-sib families of the Rocky Mountain horse breed. More than half of the 131 offspring had the Cyst phenotype and about one third had MCOA. Segregation data were obtained by genotyping 10 microsatellite markers most of which are positioned on ECA6q22-23, as well as the missense mutation for the Silver phenotype in PMEL17. Significant linkage was found between the MCOA locus and eight of the genetic markers, where marker UPP5 (Theta = 0, z = 12.3, PMEL17ex11 (Theta = 0, z = 19.0 and UPP6 (Theta = 0, z = 17.5 showed complete linkage with the MCOA locus. DNA sequencing of PMEL17 in affected and healthy control individuals did not reveal any additional mutations than the two mutations associated with the Silver coat color. Conclusion The MCOA locus can with high confidence be positioned within a 4.9 megabase (Mb interval on ECA6q. The genotype data on UPP5, PMEL17ex11 and UPP6 strongly support

  5. On the symmetry of limb deficiencies among children with multiple congenital anomalies

    NARCIS (Netherlands)

    Stoll, C; Rosano, A; Botto, LD; Erickson, D; Khoury, MJ; Olney, RS; Castilla, EE; Cocchi, G; Cornel, MC; Goujard, J; Bermejo, E; Merlob, P; Mutchinick, O; Ritvanen, A; Zampino, G; Mastroiacovo, P

    2001-01-01

    In humans, unpaired organs are placed in a highly ordered pattern along the left-right axis. As indicated by animal studies, a cascade of signaling molecules establish left-right asymmetry in the developing embryo. Some of the same genes are involved also in limb patterning. To provide a better insi

  6. On the symmetry of limb deficiencies among children with multiple congenital anomalies

    NARCIS (Netherlands)

    Stoll, C; Rosano, A; Botto, LD; Erickson, D; Khoury, MJ; Olney, RS; Castilla, EE; Cocchi, G; Cornel, MC; Goujard, J; Bermejo, E; Merlob, P; Mutchinick, O; Ritvanen, A; Zampino, G; Mastroiacovo, P

    2001-01-01

    In humans, unpaired organs are placed in a highly ordered pattern along the left-right axis. As indicated by animal studies, a cascade of signaling molecules establish left-right asymmetry in the developing embryo. Some of the same genes are involved also in limb patterning. To provide a better insi

  7. Interkinetic nuclear migration in the mouse embryonic ureteric epithelium: Possible implication for congenital anomalies of the kidney and urinary tract.

    Science.gov (United States)

    Motoya, Tomoyuki; Ogawa, Noriko; Nitta, Tetsuya; Rafiq, Ashiq Mahmood; Jahan, Esrat; Furuya, Motohide; Matsumoto, Akihiro; Udagawa, Jun; Otani, Hiroki

    2016-05-01

    Interkinetic nuclear migration (INM) is a phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium, which is characterized by the presence of apical primary cilia, in synchrony with the cell cycle in a manner of apical mitosis. INM is suggested to regulate not only stem/progenitor cell proliferation/differentiation but also organ size and shape. INM has been reported in epithelia of both ectoderm and endoderm origin. We examined whether INM exists in the mesoderm-derived ureteric epithelium. At embryonic day (E) 11.5, E12.5 and E13.5, C57BL/6J mouse dams were injected with 5-bromo-2'-deoxyuridine (BrdU) and embryos were killed 1, 2, 4, 6, 8, 10 and 12 h later. We immunostained transverse sections of the ureter for BrdU, and measured the position of BrdU (+) nuclei in the ureteric epithelia along the apico-basal axis at each time point. We analyzed the distribution patterns of BrdU (+) nuclei in histograms using the multidimensional scaling. Changes in the nucleus distribution patterns suggested nucleus movement characteristic of INM in the ureteric epithelia, and the mode of INM varied throughout the ureter development. While apical primary cilia are related with INM by providing a centrosome for the apical mitosis, congenital anomalies of the kidney and urinary tract (CAKUT) include syndromes linked to primary ciliary dysfunction affecting epithelial tubular organs such as kidney, ureter, and brain. The present study showed that INM exists in the ureteric epithelium and suggests that INM may be related with the CAKUT etiology via primary ciliary protein function.

  8. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies

    Science.gov (United States)

    Gajbhiye, Rahul; Kadam, Kaushiki; Khole, Aalok; Gaikwad, Avinash; Kadam, Seema; Shah, Rupin; Kumaraswamy, Rangaswamy; Khole, Vrinda

    2016-01-01

    Background & objectives: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. Methods: Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened. Results: Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A) were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings. PMID:27488005

  9. Contrast-enhanced time-resolved 4D MRA of congenital heart and vessel anomalies: image quality and diagnostic value compared with 3D MRA

    Energy Technology Data Exchange (ETDEWEB)

    Vogt, Florian M.; Hunold, Peter; Barkhausen, Joerg [University Hospital Schleswig-Holstein, Clinic for Radiology and Nuclear Medicine, Luebeck (Germany); Theysohn, Jens M.; Kinner, Sonja [University Hospital Essen, Department of Diagnostic and Interventional Radiology and Neuroradiology, Essen (Germany); Michna, Dariusz [Elisabeth Hospital, Department of Neonatology, Essen (Germany); Neudorf, Ulrich [University Hospital Essen, Clinic for Pediatrics III, Essen (Germany); Quick, Harald H. [University of Erlangen-Nuernberg, Institute of Medical Physics, Erlangen (Germany)

    2013-09-15

    To evaluate time-resolved interleaved stochastic trajectories (TWIST) contrast-enhanced 4D magnetic resonance angiography (MRA) and compare it with 3D FLASH MRA in patients with congenital heart and vessel anomalies. Twenty-six patients with congenital heart and vessel anomalies underwent contrast-enhanced MRA with both 3D FLASH and 4D TWIST MRA. Images were subjectively evaluated regarding total image quality, artefacts, diagnostic value and added diagnostic value of 4D dynamic imaging. Quantitative comparison included signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR) and vessel sharpness measurements. Three-dimensional FLASH MRA was judged to be significantly better in terms of image quality (4.0 {+-} 0.6 vs 3.4 {+-} 0.6, P < 0.05) and artefacts (3.8 {+-} 0.4 vs 3.3 {+-} 0.5, P < 0.05); no difference in diagnostic value was found (4.2 {+-} 0.4 vs 4.0 {+-} 0.4); important additional functional information was found in 21/26 patients. SNR and CNR were higher in the pulmonary trunk in 4D TWIST, but slightly higher in the systemic arteries in 3D FLASH. No difference in vessel sharpness delineation was found. Although image quality was inferior compared with 3D FLASH MRA, 4D TWIST MRA yields robust images and added diagnostic value through dynamic acquisition was found. Thus, 4D TWIST MRA is an attractive alternative to 3D FLASH MRA. (orig.)

  10. 先天性右位心及合并畸形的超声心动图诊断%Echocardiographic diagnosis of congenital dextrocardia and cardiovascular anomaly

    Institute of Scientific and Technical Information of China (English)

    李玉珍; 金琪

    2009-01-01

    Objective To observe the echocardiographic diagnosis value of congenital dextrocardia and cardiovascular anomaly. Methods Seven-six patients with dextrocardia were classified according to Van Praagh's method. The cardiovascular anomalies were diagnosed by eehocardiography combined with operation results. Results Fourty-seven cases were mirror-image dextrecardia. 57.4 % of the 47 cases had concordant segmental connection, mostly with simple anomalies, including ASD and VSD with PH. Other patients with disconcordant segnental cormec tion were complicated with complex anomalies, including DORV, TGA, SV +PS or PAA. 23 cases were dextroversion, mostly with disconcordant segmental connection and complex anomalies, including DORV, SV, C-TGA and TGA + PS. 2 cases were left isomerism and 4 were right isomerism and these 6 cases presented with complex anomalies. Compared with the operation results, echocardiography could accurately detect congenital dextrocardia and cardiovas-cular anomalies, but there is still limitation for diagnosis of some anomalies. Conclusion Echocardiography can be the first choice for diagnosis of congenital dextrocardia.%目的 探讨经胸超声心动图对先天性右位心及合并畸形的诊断价值.方法 经胸超声心动图检查,按Van Praagh节段分析法对76例先天性右位心的结构进行诊断,并与手术对照分析.结果 76例先天性右位心患者中,镜像右位心47例,27例心室连接一致,大部分合并简单畸形,如房间隔缺损、室间隔缺损,多数伴有肺动脉高压;各节段连接不一致的均伴有复杂畸形,主要为右心室双出口、完全型大动脉转位、单心室伴肺动脉狭窄或肺动脉瓣闭锁.右旋心23例,21例伴有复杂畸形,主要为右心室双出口、单心室、矫正型大动脉转位、完全型大动脉转位合并肺动脉狭窄.左心房异构右位心2例,右心房异构4例,均合并复杂畸形.与手术对照,超声心动图能准确评估先天性右位

  11. Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Righini, Andrea; Parazzini, Cecilia; Izzo, Giana [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); Cesaretti, Claudia [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); Ospedale Maggiore Policlinico, Medical Genetics Unit, Fondazione I.R.C.C.S. Ca' Granda, Milan (Italy); Conte, Giorgio [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); University of Milan, Department of Health Sciences, Milan (Italy); Frassoni, Carolina; Inverardi, Francesca [Fondazione I.R.C.C.S. Istituto Neurologico ' ' C. Besta' ' , Clinical Epileptology and Experimental Neurophysiology Unit, Milan (Italy); Bulfamante, Gaetano; Avagliano, Laura [San Paolo Hospital, Division of Human Pathology, Milan (Italy); Rustico, Mariangela [Children' s Hospital ' ' V. Buzzi' ' , Department of Obstetrics and Gynaecology, Prenatal Diagnosis, Milan (Italy)

    2016-03-15

    Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar tooth malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies. (orig.)

  12. Congenital inferior vena cava anomalies: a review of findings at multidetector computed tomography and magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Catherine; Trad, Clovis Simao [Central de Diagnostico Ribeirao Preto (CEDIRP), SP (Brazil); Trad, Henrique Simao, E-mail: hstrad@terra.com.br [Central de Diagnostico Ribeirao Preto (CEDIRP), SP (Brazil); Universidade de Sao Paulo (HC-FMRPUSP), Ribeirao Preto, SP (Brazil). Fac. de Medicina. Hospital das Clinicas; Mendonca, Silvana Machado [Clinica de Diagnostico por Imagem (CDPI), Rio de Janeiro, RJ (Brazil)

    2013-06-15

    Inferior vena cava anomalies are rare, occurring in up to 8.7% of the population, as left renal vein anomalies are considered. The inferior vena cava develops from the sixth to the eighth gestational weeks, originating from three paired embryonic veins, namely the subcardinal, supracardinal and postcardinal veins. This complex ontogenesis of the inferior vena cava, with multiple anastomoses between the pairs of embryonic veins, leads to a number of anatomic variations in the venous return from the abdomen and lower limbs. Some of such variations have significant clinical and surgical implications related to other cardiovascular anomalies and in some cases associated with venous thrombosis of lower limbs, particularly in young adults. The authors reviewed images of ten patients with inferior vena cava anomalies, three of them with deep venous thrombosis. The authors highlight the major findings of inferior vena cava anomalies at multidetector computed tomography and magnetic resonance imaging, correlating them the embryonic development and demonstrating the main alternative pathways for venous drainage. The knowledge on the inferior vena cava anomalies is critical in the assessment of abdominal images to avoid misdiagnosis and to indicate the possibility of associated anomalies, besides clinical and surgical implications. (author)

  13. Congenital inferior vena cava anomalies: a review of findings at multidetector computed tomography and magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Catherine Yang

    2013-07-01

    Full Text Available Inferior vena cava anomalies are rare, occurring in up to 8.7% of the population, as left renal vein anomalies are considered. The inferior vena cava develops from the sixth to the eighth gestational weeks, originating from three paired embryonic veins, namely the subcardinal, supracardinal and postcardinal veins. This complex ontogenesis of the inferior vena cava, with multiple anastomoses between the pairs of embryonic veins, leads to a number of anatomic variations in the venous return from the abdomen and lower limbs. Some of such variations have significant clinical and surgical implications related to other cardiovascular anomalies and in some cases associated with venous thrombosis of lower limbs, particularly in young adults. The authors reviewed images of ten patients with inferior vena cava anomalies, three of them with deep venous thrombosis. The authors highlight the major findings of inferior vena cava anomalies at multidetector computed tomography and magnetic resonance imaging, correlating them the embryonic development and demonstrating the main alternative pathways for venous drainage. The knowledge on the inferior vena cava anomalies is critical in the assessment of abdominal images to avoid misdiagnosis and to indicate the possibility of associated anomalies, besides clinical and surgical implications.

  14. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

    Directory of Open Access Journals (Sweden)

    Franz P W Radner

    2013-06-01

    Full Text Available Autosomal recessive congenital ichthyosis (ARCI is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3 and abolishes a sequence for a long non-coding RNA (FLJ42289. Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3 and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis.

  15. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

    Directory of Open Access Journals (Sweden)

    Franz P W Radner

    2013-06-01

    Full Text Available Autosomal recessive congenital ichthyosis (ARCI is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3 and abolishes a sequence for a long non-coding RNA (FLJ42289. Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3 and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis.

  16. Cardiac resynchronization therapy in patients with challenging anatomy due to venous anomalies or adult congenital heart disease.

    Science.gov (United States)

    Niazi, Imran; Dhala, Anwer; Choudhuri, Indrajit; Sra, Jasbir; Akhtar, Masood; Tajik, Abdul Jamil

    2014-09-01

    Cardiac resynchronization therapy (CRT) has proven salutary effects in patients with congestive heart failure, systolic dysfunction, and electromechanical dyssynchrony in the setting of ischemic, nonischemic, and congenital cardiomyopathy. While CRT device implants have become routine in the adult ischemic or nonischemic cardiomyopathy populations, patients with congenital heart disease offer special challenges due to unusual anatomic variations. A comprehensive assessment of anatomic abnormalities is essential prior to implant. In addition, implant techniques and equipment must be tailored to the expected anatomy. A flexible approach is necessary-implant may require equipment and techniques adapted from vascular intervention. This article describes our approach to CRT implant in patients with congenital heart disease, and is illustrated by reports of several cases. ©2014 Wiley Periodicals, Inc.

  17. Congenital candidiasis as a subject of research in medicine and human ecology.

    Science.gov (United States)

    Skoczylas, Michał M; Walat, Anna; Kordek, Agnieszka; Loniewska, Beata; Rudnicki, Jacek; Maleszka, Romuald; Torbé, Andrzej

    2014-01-01

    Congenital candidiasis is a severe complication of candidal vulvovaginitis. It occurs in two forms,congenital mucocutaneous candidiasis and congenital systemic candidiasis. Also newborns are in age group the most vulnerable to invasive candidiasis. Congenital candidiasis should be considered as an interdisciplinary problem including maternal and fetal condition (including antibiotic therapy during pregnancy), birth age and rare genetic predispositions as severe combined immunodeficiency or neutrophil-specific granule deficiency. Environmental factors are no less important to investigate in diagnosing, treatment and prevention. External factors (e.g., food) and microenvironment of human organism (microflora of the mouth, intestine and genitalia) are important for solving clinical problems connected to congenital candidiasis. Physician knowledge about microorganisms in a specific compartments of the microenvironment of human organism and in the course of defined disorders of homeostasis makes it easier to predict the course of the disease and allows the development of procedures that can be extremely helpful in individualized diagnostic and therapeutic process.

  18. Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

    NARCIS (Netherlands)

    L.T. van der Veken (Lars); M.M.J. Dieleman (Marianne); H. Douben (Hannie); J.C. van de Brug (Judith); R. van de Graaf (Raoul); A.J.M. Hoogeboom; P.J. Poddighe (Pino); J.E.M.M. de Klein (Annelies)

    2010-01-01

    textabstractBackground. Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities mi

  19. Congenital oval or round window anomaly with or without abnormal facial nerve course: surgical results for 15 ears.

    NARCIS (Netherlands)

    Thomeer, H.G.; Kunst, H.P.; Verbist, B.M.; Cremers, C.W.R.J.

    2012-01-01

    OBJECTIVES: To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. STUDY DESIGN: Retrospective chart study.

  20. Tracheobronchial Branching Anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick [Soonchunhyang University, Cheonan Hospital, Cheonan (Korea, Republic of); Park, A Young [Soonchunhyang University College of Medicine, Asan (Korea, Republic of)

    2010-04-15

    There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

  1. COMPARISON OF COUPLES REFERRED AND NOT REFERRED FOR GENETIC-COUNSELING IN A GENETIC CLINIC AFTER THE BIRTH OF A CHILD WITH A CONGENITAL ANOMALY - A STUDY IN A POPULATION IN THE NORTHEASTERN NETHERLANDS

    NARCIS (Netherlands)

    CORNEL, MC; VANESSEN, AJ; TENKATE, LP

    1992-01-01

    After the birth of a child with a congenital anomaly, parents have many questions about cause, prognosis, and recurrence risk. An important means of transmitting such information is referral to a genetic clinic. We were interested in knowing what determines whether or not parents are referred for ge

  2. Does maternal exposure to benzene and PM10 during pregnancy increase the risk of congenital anomalies? A population-based case-control study

    Science.gov (United States)

    Vinceti, Marco; Malagoli, Carlotta; Malavolti, Marcella; Cherubini, Andrea; Maffeis, Giuseppe; Rodolfi, Rossella; Heck, Julia E.; Astolfi, Gianni; Calzolari, Elisa; Nicolini, Fausto

    2015-01-01

    A few studies have suggested an association between maternal exposure to ambient air pollution from vehicular traffic and risk of congenital anomalies in the offspring, but epidemiologic evidence is neither strong nor entirely consistent. In a population-based case-control study in a Northern Italy community encompassing 228 cases of birth defects and 228 referent newborns, we investigated if maternal exposure to PM10 and benzene from vehicular traffic during early pregnancy, as estimated through a dispersion model, was associated with excess teratogenic risk. In conditional logistic regression analysis, and with adjustment for the other pollutant, we found that higher exposure to PM10 but not benzene was associated with increased risk of birth defects overall. Anomaly categories showing the strongest dose-response relation with PM10 exposure were musculoskeletal and chromosomal abnormalities but not cardiovascular defects, with Down syndrome being among the specific abnormalities showing the strongest association, though risk estimates particularly for the less frequent defects were statistically very unstable. Further adjustment in the regression model for potential confounders did not considerably alter the results. All the associations were stronger for average levels of PM10 than for their maximal level. Findings of this study give some support for an excess teratogenic risk following maternal exposure during pregnancy to PM10, but not benzene. Such association appears to be limited to some birth defect categories. PMID:26410719

  3. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  4. Congenital Anomalies in Children of Mothers Taking Antiepileptic Drugs with and without Periconceptional High Dose Folic Acid Use: A Population-Based Cohort Study.

    Directory of Open Access Journals (Sweden)

    Lu Ban

    Full Text Available Antenatal antiepileptic drug (AED use has been found to be associated with increased major congenital anomaly (CA risks. However whether such AED-associated risks were different according to periconceptional high dose (5mg daily folic acid supplementation is still unclear.We included 258,591 singleton live-born children of mothers aged 15-44 years in 1990-2013 from The Health Improvement Network, a large UK primary care database. We identified all major CAs according to the European Surveillance of Congenital Anomalies classification. Absolute risks and adjusted odds ratios (aOR were calculated comparing children of mothers prescribed AEDs to those without such prescriptions, stratified by folic acid prescriptions around the time of conception (one month before conception to two months post-conception.CA risk was 476/10,000 in children of mothers with first trimester AEDs compared with 269/10,000 in those without AEDs equating to an aOR of 1.82, 95% confidence interval 1.30-2.56. The highest system-specific risks were for heart anomalies (198/10,000 and 79/10,000 respectively, aOR 2.49,1.47-4.21. Sodium valproate and lamotrigine were both associated with increased risks of any CA (aOR 2.63,1.46-4.74 and aOR 2.01,1.12-3.59 respectively and system-specific risks. Stratification by folic acid supplementation did not show marked reductions in AED-associated risks (e.g. for CAs overall aOR 1.75, 1.01-3.03 in the high dose folic acid group and 1.94, 95%CI 1.21-3.13 in the low dose or no folic acid group; however, the majority of mothers taking AEDs only initiated high dose folic acid from the second month of pregnancy.Children of mothers with AEDs in the first trimester of pregnancy have a 2-fold increased risk of major CA compared to those unexposed. We found no evidence that prescribed high dose folic acid supplementation reduced such AED-associated risks. Although statistical power was limited, prescribing of folic acid too late for it to be

  5. The role of religion in decision-making on antenatal screening of congenital anomalies: a qualitative study amongst Muslim Turkish origin immigrants.

    Science.gov (United States)

    Gitsels-van der Wal, Janneke T; Manniën, Judith; Ghaly, Mohammed M; Verhoeven, Pieternel S; Hutton, Eileen K; Reinders, Hans S

    2014-03-01

    to explore what role religious beliefs of pregnant Muslim women play in their decision-making on antenatal screening, particularly regarding congenital abnormalities and termination, and whether their interpretations of the religious doctrines correspond to the main sources of Islam. qualitative pilot study using in-depth interviews with pregnant Muslim women. one midwifery practice in a medium-sized city near Amsterdam participated in the study. 10 pregnant Muslim women of Turkish origin who live in a high density immigrant area and who attended primary midwives for antenatal care were included in the study. to explore the role of religion in decision-making on antenatal screening tests, a topic list was constructed, including four subjects: being a (practising) Muslim, the view on unborn life, the view on disabled life and the view on termination. To analyse the interviews, open and axial coding based on the Grounded Theory was used and descriptive and analytical themes were identified and interpreted. all 10 interviewees stated that their faith played a role in their decision-making on antenatal screening, specific to the combined test. They did not consider congenital anomalies as a problem and did not consider termination to be an option in case of a disabled fetus. However, the Islamic jurisprudence considers that termination is allowed if the fetus has serious abnormalities, but only before 19 weeks plus one day of gestation. religious convictions play a role regarding antenatal screening in pregnant Muslim women of Turkish origin. The interviewees did not consider a termination in case of an affected child. Women were unaware that within Islamic tradition there is the possibility of termination if a fetus has serious anomalies. Incomplete knowledge of religious doctrines may be influencing both decisions of antenatal screening and diagnostic tests uptake and of terminating a pregnancy for fetuses with serious anomalies. counsellors should be aware of the

  6. Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children.

    Science.gov (United States)

    He, Huan; Sun, Feifei; Ren, Weidong; Wang, Yonghuai; Xu, Shu

    2016-10-01

    Unilateral lung agenesis, a rare congenital deformity, is secondary to abnormal embryonic development, leading to a shift of the mediastinum and remaining lung. In our case reports, we describe the diagnostic courses of two pediatric patients with unilateral lung agenesis admitted to our hospital in 2014. We present and compare the findings in transthoracic echocardiography with that in CT. Echocardiography played a pivotal role in revealing pulmonary deformities and leading to the diagnosis. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:514-517, 2016.

  7. Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations

    OpenAIRE

    Chavarria-Soley, G.; Michels-Rautenstrauss, K.; Pasutto, F; Flikier, D.; Flikier, P.; Cirak, S; Bejjani, B.; Winters, D.; Lewis, R; Mardin, C.; Reis, A; Rautenstrauss, B.

    2006-01-01

    PURPOSE: Mutations in the cytochrome P450 1B1 (CYP1B1) gene are a frequent cause of primary congenital glaucoma (PCG) in different ethnic groups. Cytochrome P450 proteins are monooxygenases, which catalyze many reactions involved in the metabolism of drugs as well as steroids and other lipids. The repeated occurence of several mutations in various ethnic groups raises the question if founder effects or mutation-prone sites in CYP1B1 are the cause for this observation.METHODS: A total of 30 in...

  8. Congenital sternal foramen in a stillborn Holstein calf

    Institute of Scientific and Technical Information of China (English)

    Shahrzad Azizi; Mohsen Khosravi Bakhtiary; Mehdi Goodarzi

    2012-01-01

    Congenital sternal foramen is an anomaly whose occurrence is rare in human but is especially unusual in animals. This defect was formed when fusion of multiple ossification centers was incomplete. It may be associated with other lesions in body organs especially cardiac anomalies. In the present study, we report a very rare case of congenital sternal foramen in a Holstein calf. The oval defect was like a gunshot wound and located at the lower third of the sternum. Apparently, the rest of skeleton system seems normal. The awareness of the anomaly is important for better diagnosis and treatment of diseases.

  9. Configural and featural processing in humans with congenital prosopagnosia.

    Science.gov (United States)

    Lobmaier, Janek S; Bölte, Jens; Mast, Fred W; Dobel, Christian

    2010-07-01

    Prosopagnosia describes the failure to recognize faces, a deficiency that can be devastating in social interactions. Cases of acquired prosopagnosia have often been described over the last century. In recent years, more and more cases of congenital prosopagnosia (CP) have been reported. In the present study we tried to determine possible cognitive characteristics of this impairment. We used scrambled and blurred images of faces, houses, and sugar bowls to separate featural processing strategies from configural processing strategies. This served to investigate whether congenital prosopagnosia results from process-specific deficiencies, or whether it is a face-specific impairment. Using a delayed matching paradigm, 6 individuals with CP and 6 matched healthy controls indicated whether an intact test stimulus was the same identity as a previously presented scrambled or blurred cue stimulus. Analyses of d values indicated that congenital prosopagnosia is a face-specific deficit, but that this shortcoming is particularly pronounced for processing configural facial information.

  10. [Congenital ectropion of the upper eyelids due to an anomaly of the eyelids in down's syndrome (author's transl)].

    Science.gov (United States)

    Hennighausen, U; Schmidt-Martens, F W; Reim, M

    1978-05-01

    A 5-months-old female baby with Down's Syndrome developed an intermittent spastic ectropion of the upper eyelids. The reasons for this are thought to be the flaccidity of the connective tissue, which is typical in Down's Syndrome, and a little anomaly of the eyelids, the tarsus was too short horizontally and very weak and the upper eyelids were somewhat larger than normal and elongated. Suturing Bangerter's lid-sheets on the upper eyelids for 15 days resulted in a scarring of the tarsus with the lax connective tissue of the upper eyelids. The ectropion disappeared and did not recur.

  11. A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations.

    Science.gov (United States)

    Alghamdi, Malak A; Ziermann, Janine M; Gregg, Lydia; Diogo, Rui

    2017-03-07

    Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects. Our results showed that many of the defects found in the fetus with craniorachischisis are similar not only to anomalies previously described in the available works on musculoskeletal phenotypes seen in fetuses with anencephaly and spina bifida, but also to a wide range of other different conditions/syndromes including trisomies 13, 18 and 21, and cyclopia. The fact that similar anomalies are seen commonly not only in a wide range of different syndromes, but also as variants of the normal human population and as the 'normal' phenotype of other animals, supports Pere Alberch's unfortunately named idea of a 'logic of monsters'. That is, it supports the idea that development is so constrained that both in 'normal' and abnormal development one sees certain outcomes being produced again and again because ontogenetic constraints only allow a few possible outcomes, thus also leading to cases where the anatomical defects of some organisms are similar to the 'normal' phenotype of other organisms. In fact, this applies not only to specific anomalies but also to general patterns, such as the fact that in pathological conditions affecting different regions of the body, one consistently sees more defects on the upper limbs than on the lower limbs. Such general patterns are, again, seen in the fetus examined for this study, which had 29 muscle anomalies on the right

  12. Reactive Astrocytes Expressing Intense Estrogen Receptor-alpha Immunoreactivities Have Much Elongated Cytoplasmic Processes: An Autopsy Case of Human Cerebellar Tissue with Multiple Genitourinary and Gastrointestinal Anomalies

    Science.gov (United States)

    Kim, Eo-Jin; Oh, Chang Seok; Kim, Jaehyup; Kim, Wu Ho; Chung, Yoon Hee

    2007-01-01

    We performed an immunohistochemical study on the estrogen receptor alpha (ER-α) distribution in the cerebellum of a human neonate with multiple congenital anomalies, that had been acquired during autopsy. Although the exact pathology in the brain was not clearly elucidated in this study, an unidentified stressful condition might have induced the astrocytes into reactive states. In this immunohistochemical study on the neonatal cerebellum with multiple congenital anomalies, intense ER-α immunoreactivities (IRs) were localized mainly within the white matter even though ER-α IRs were known to be mainly localized in neurons. Double immunohistochemical staining showed that ER-α IR cells were reactive astrocytes, but not neurons. Interestingly, there were differences in the process length among the reactive astrocytes showing ER-α IRs. Our quantitative data confirmed that among the glial fibrillary acidic protein (GFAP)-expressing reactive astrocytes, the cells exhibiting intense ER-α IRs have much longer cytoplasmic processes and relatively weaker GFAP IRs. Taken together, the elongated processes of reactive astrocytes might be due to decreased expression of GFAP, which might be induced by elevated expression of ER-α even though the elucidation of the exact mechanism needs further studies. PMID:17982251

  13. Unusual trend in the prevalence of trisomy 13 in mothers aged 35 and older: A population based study of national congenital anomaly data.

    Science.gov (United States)

    Nair, Deepa Balachandran; Tucker, David; Hughes, Rhian; Greenacre, Judith; Morgan, Margery

    2015-07-01

    Trisomy 13 is one of the three autosomal trisomies compatible with viability. It is associated with structural anomalies, learning disability and poor survival. Advanced maternal age is the most frequently suggested risk factor. This is a population based register study to investigate the temporal trends of trisomy 13. Chromosomal trisomies were reviewed by the Welsh Congenital Anomaly Register using data from 1998-2012. All pregnancy outcomes were included. Prevalence rates and trends for all cases and for cases with mothers aged below 35 years and those aged 35 years and older were plotted for trisomy 13, 18 and 21. Possible risk factors contributing to the trend in older mothers were compared in the early and late period of the study. There were 124 cases of trisomy 13 over the 15 year period with 55 mothers aged 35 years and older. Overall prevalence was 2.5 per 10,000 total births. A significant declining trend in the prevalence of trisomy 13 in mothers aged 35 and older (χ(2) trend = 4.98, p=0.026) was noted. Rates for younger mothers were lower and remained stable. Prevalence of trisomy 18 and 21 in older mothers remained stable. The unexpected declining trend in trisomy 13 in older mothers could not be explained by the risk factors examined in this study. There have been no other reports of trends in the prevalence of trisomy 13 in older mothers in recent years. There is further need for surveillance of trends in future and in other populations. © 2015 Wiley Periodicals, Inc.

  14. Configural and featural processing in humans with congenital prosopagnosia.

    OpenAIRE

    Lobmaier, Janek S.; Bölte, Jens; Mast, Fred W.; Dobel, Christian

    2010-01-01

    Prosopagnosia describes the failure to recognize faces, a deficiency that can be devastating in social interactions. Cases of acquired prosopagnosia have often been described over the last century. In recent years, more and more cases of congenital prosopagnosia (CP) have been reported. In the present study we tried to determine possible cognitive characteristics of this impairment. We used scrambled and blurred images of faces, houses, and sugar bowls to separate featural processing strategi...

  15. A unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Levin, M.L.; Shaffer, L.G.; Lewis, R.A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Contiguous gene or microdeletion syndromes occurring on chromosome 17p include the Smith-Magenis and Miller-Dieker syndromes associated with interstitial deletions of 17p11.2 and 17p13.3, respectively. Other cytogenetically visible interstitial deletions on chromosome 17 are quite rare or unique. We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del(17)(q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. We have compared our patient`s phenotype and karyotype to two reported patients with deletion 17q with minor clinical overlap. The most striking clinical features of this patient were severe intrauterine growth retardation, widespread skeletal malformations (split sutures, hypoplastic acetabulae and scapulae, vertebral anomalies, and digital hypoplasia), cutis verticis gyrata, dysmorphic facial features, and oropharyngeal malformations (absent uvula and submucous cleft palate). Mild congenital heart disease and anomalous optic nerves were also present. Parental karyotyps were normal. DNA from parents and patient has been collected and cell lines established on both parents. Genes which have been previously mapped to the region that is apparently deleted in this patient include: chorionic somatomammotropin A, growth hormone (normal), acid alpha-glucosidase, apolipoprotein H, and the alpha peptide of type 4 voltage gated sodium channel. As in other clinical cytogenetic syndromes, further descriptions of patients with similar or overlapping rearrangements in this region will be necessary to delineate genotype/phenotype correlations for chromosome 17.

  16. The role of satisfaction with social support in perceived burden and stress of parents of six-month-old infants with a congenital anomaly: Actor and partner effects.

    Science.gov (United States)

    Fonseca, Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

    2014-06-01

    This exploratory study examined the role of satisfaction with support from family and friends on the burden and stress of parents of infants with a congenital anomaly (CA). The effects of social support were examined within the couple (actor and partner effects). A total of 36 couples whose six-month-old infant has a CA participated in this study. The parents completed questionnaires regarding satisfaction with support, burden (Impact on Family Scale - Revised), and parenting stress (Parenting Stress Index). The results showed that fathers directly benefited from the support they received from friends in reducing their burden, while mothers only indirectly benefited from it through the father's adjustment. The pattern was different for stress: mothers directly benefited from the support they received from their family in reducing their stress levels, while fathers benefited both directly from the support they received from friends and indirectly from the support that their partners received from family. These results highlight that (1) the different support needs of mothers and fathers (due to their different roles during transition to parenthood) and (2) the diffusion of benefits of social support within the couple should be taken into account when developing strategies to promote support to families of six-month-old infants with a CA.

  17. Parenting an infant with a congenital anomaly: An exploratory study on patterns of adjustment from diagnosis to six months post birth.

    Science.gov (United States)

    Fonseca, Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

    2014-06-01

    The present study examined psychological adjustment in parents of infants with congenital anomalies (CAs), focusing on the interval from the disclosure of the diagnosis to six months after the infant's birth and considering the effects of the parent's gender and the timing of diagnosis (pre- vs postnatal). Within-group diversity was also examined by identifying distinct patterns of individual adjustment over time. Parents of 43 infants (43 mothers and 36 fathers) with a pre- or postnatal diagnosis of a CA answered questionnaires assessing psychological distress and quality of life one month after the disclosure of the diagnosis and six months after the infant's birth. Results showed a significant reduction in psychological distress and a significant increase in physical quality of life over time, for both parents, regardless of the timing of diagnosis. In all, 57% of parents presented a pattern of recovery from diagnosis to six months post birth and 26.6% presented a pattern of resilience. However, 15.2% of parents showed chronic adjustment difficulties. Findings suggest that most parents tend to adjust to their infant's CA, although some experienced difficulties and should be targeted for specialised counselling. Both members of the couple should be acknowledged, as both experience similar patterns of adjustment.

  18. Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

    Directory of Open Access Journals (Sweden)

    Maggie Brett

    Full Text Available Developmental delay and/or intellectual disability (DD/ID affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322× to 798×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism.

  19. Molecular cytogenetics of human germ cell tumours : i(12p) and related chromosomal anomalies

    NARCIS (Netherlands)

    Geurts van Kessel, A; Suijkerbuijk, R F; Sinke, R J; Looijenga, L; Oosterhuis, J W; de Jong, B

    1993-01-01

    Human testicular germ cell tumours (TGCTs) comprise a heterogeneous group of solid neoplasms. These tumours are characterized by a highly specific chromosomal anomaly, i.e. an isochromosome of the short arm of chromosome 12. At present, this i(12p) chromosome has been observed in about 80% of TGCTs.

  20. [Morphofunctional correlation in congenital anomalies of the coronary arteries. II. The ectopic origin of the coronary arteries].

    Science.gov (United States)

    Rangel-Abundis, A; Muñoz-Castellanos, L; Chávez-Pérez, E; Sánchez-Moreira, L M; Marín, G; Badui, E; Solorio, S

    1994-01-01

    The authors describe the morphogenesis and functional alterations of the coronary arterial net in the ectopic coronary arteries: a) with origin in the aorta or its branches and b) with origin in the pulmonary artery. The coronary arteries are developed from: 1) endothelial sprouts localized in the great arteries walls at the level of the sigmoidal values, 2) right and left subepicardial vascular network and 3) the intramyocardial sinusoids. Most of the ectopic coronary arteries result from alterations in the connection between these three embryonic elements. The deviation of one of the subepicardial vascular network in a wrong way (in direction of pulmonary artery or the opposite Valsalva sinus) will stimulate the development of endothelial sprouts which will connect such network originating abnormal connections and anomalous origin of the coronary arteries. The origin of both coronary arteries from the pulmonary artery is in compatible with life. Myocardial ischemia is absent in patients with type I (infant) or type II (adult) anomalous origin of one coronary artery from the pulmonary artery, only in the transitional phase between both types (I and II) there is myocardial ischemia previous to the formation of the collateral coronary circulation. The ectopic origin of the coronary artery from the aortic Valsalva sinus have very little hemodynamic repercussion in the patient. Although there are cases with postexercise sudden dead. These anomalies associated to atherosclerotic coronary stenosis have an impact on the evolution and prognosis of ischemic heart disease.

  1. Cystic fibrosis transmembrane conductance regulator (CFTR gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies

    Directory of Open Access Journals (Sweden)

    Rahul Gajbhiye

    2016-01-01

    Results: Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T, four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD. The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings.

  2. Imaging of congenital anomalies and variations of the caudal spine and back in neonates and small infants

    Energy Technology Data Exchange (ETDEWEB)

    Schenk, Jens-Peter [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany)]. E-mail: Jens-Peter_Schenk@med.uni-heidelberg.de; Herweh, Christian [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Department of Neuroradiology, University of Heidelberg (Germany); Guenther, Patrick [Department of Pediatric Surgery, University of Heidelberg (Germany); Rohrschneider, Wiltrud [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Zieger, Birgit [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Troeger, Jochen [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany)

    2006-04-15

    Spinal dysraphisms are categorized in open dysraphisms with prominent abnormal nervous tissue above the skinlevel and closed dysraphisms with a skin covered malformation. Especially the occult dysraphisms are marked by suspect skin masses and other dermal anomalies. The purpose of this review is to demonstrate the indications and spectrum of spinal sonography in neonates and infants. In comparison typical dysraphisms are demonstrated in sonography and MR Imaging. We demonstrate the value of ultrasound in comparison to MRI and describe a useful handling of the methods in neonates and infants. The differentiation between the potentially dangerous dimples associated with dermal sinus, which can lead to meningitis and the harmless coccygeal dimple in the cranial gluteal cleft is presented. An inconspicious examination does not need a further imaging, but suspicious results of sonography need an MR imaging dependent of clinical conditions. Neurologically conspicious infants need MR imaging completed by sonography. Great advantages of sonography are the real time examination and the potential to show oscillations of the conus, filum and cauda equina in M-mode-imaging.

  3. High efficiency in human muscle: an anomaly and an opportunity?

    Science.gov (United States)

    Nelson, Frank E; Ortega, Justus D; Jubrias, Sharon A; Conley, Kevin E; Kushmerick, Martin J

    2011-08-15

    Can human muscle be highly efficient in vivo? Animal muscles typically show contraction-coupling efficiencies FDI) muscle of the hand has an efficiency value in vivo of 68%. We examine two key factors that could account for this apparently high efficiency value: (1) transfer of cross-bridge work into mechanical work and (2) the use of elastic energy to do external work. Our analysis supports a high contractile efficiency reflective of nearly complete transfer of muscular to mechanical work with no contribution by recycling of elastic energy to mechanical work. Our survey of reported contraction-coupling efficiency values puts the FDI value higher than typical values found in small animals in vitro but within the range of values for human muscle in vivo. These high efficiency values support recent studies that suggest lower Ca(2+) cycling costs in working contractions and a decline in cost during repeated contractions. In the end, our analysis indicates that the FDI muscle may be exceptional in having an efficiency value on the higher end of that reported for human muscle. Thus, the FDI muscle may be an exception both in contraction-coupling efficiency and in Ca(2+) cycling costs, which makes it an ideal muscle model system offering prime conditions for studying the energetics of muscle contraction in vivo.

  4. Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans.

    Science.gov (United States)

    Kennerknecht, Ingo; Pluempe, Nina; Welling, Brigitte

    2008-01-01

    The apparent selectivity of agnosia for faces is termed prosopagnosia or face blindness. This cognitive dysfunction can be seen after traumatic events--involving at least the right occipital temporal region--or very frequently congenital in the absence of any detectable lesions. The familiarity of congenital prosopagnosia was studied in two independently ascertained collections of subjects with prosopagnosia. One was an unselected group of pupils and students who underwent a questionnaire based screening. The others were self reported subjects after having heard for the first time about the phenomenon of prosopagnosia from mass media citing our studies and/or from our homepage (www.prosopagnosia.de). Those who agreed with consecutive studies of their family members had mostly one or more prosopagnosic first degree relatives. The segregation patterns derived from 39 families are compatible with autosomal dominant inheritance. Hence, mutation(s) in one gene are sufficient for manifestation of the phenotype. Still fitting the concept of autosomal dominant inheritance, we have evidence for a slightly reduced penetrance (4 normal transmitters from distinct families) and one or two de novo mutations.

  5. Clinical and molecular characterisation of human syndromes with congenital patellar malformations

    NARCIS (Netherlands)

    Bongers, M.H.F.

    2006-01-01

    In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The el

  6. Clinical and molecular characterisation of human syndromes with congenital patellar malformations

    NARCIS (Netherlands)

    Bongers, M.H.F.

    2006-01-01

    In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The

  7. Maternal endotoxemia, fetal anomalies, and central nervous system damage: a rat model of a human problem.

    Science.gov (United States)

    Ornoy, A; Altshuler, G

    1976-01-15

    Endotoxemia is a common consequence of the gram-negative urinary tract infections that complicate human pregnancies. Only rarely, however, have the effects of maternal endotoxemia been evaluated by animal experiments or by human investigations. Data of the Collaborative Perinatal Study suggest an association between maternal endotoxemia and fetal central nervous system damage. For these reasons we performed controlled studies of the fetal effects of treatment of pregnant rats, at appropriate gestational ages, with E. coli endotoxin. We found a maximum 7 per cent incidence of fetal anomalies in the treated animals but no anomalies in controls. Placental light microscopy examinations indicated the mechanism to include Shwartzman-lixemia produces periventricular leukomalacia. We obtained an incidence of neuronal necrosis in treated fetuses that was 10 times greater than in control fetuses. It is therefore of importance that additional studies of the pathologic effects of endotoxin be performed.

  8. Movement Induces the Use of External Spatial Coordinates for Tactile Localization in Congenitally Blind Humans.

    Science.gov (United States)

    Heed, Tobias; Möller, Johanna; Röder, Brigitte

    2015-01-01

    To localize touch, the brain integrates spatial information coded in anatomically based and external spatial reference frames. Sighted humans, by default, use both reference frames in tactile localization. In contrast, congenitally blind individuals have been reported to rely exclusively on anatomical coordinates, suggesting a crucial role of the visual system for tactile spatial processing. We tested whether the use of external spatial information in touch can, alternatively, be induced by a movement context. Sighted and congenitally blind humans performed a tactile temporal order judgment task that indexes the use of external coordinates for tactile localization, while they executed bimanual arm movements with uncrossed and crossed start and end postures. In the sighted, start posture and planned end posture of the arm movement modulated tactile localization for stimuli presented before and during movement, indicating automatic, external recoding of touch. Contrary to previous findings, tactile localization of congenitally blind participants, too, was affected by external coordinates, though only for stimuli presented before movement start. Furthermore, only the movement's start posture, but not the planned end posture affected blind individuals' tactile performance. Thus, integration of external coordinates in touch is established without vision, though more selectively than when vision has developed normally, and possibly restricted to movement contexts. The lack of modulation by the planned posture in congenitally blind participants suggests that external coordinates in this group are not mediated by motor efference copy. Instead the task-related frequent posture changes, that is, movement consequences rather than planning, appear to have induced their use of external coordinates.

  9. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

    Science.gov (United States)

    Mullegama, Sureni V; Klein, Steven D; Mulatinho, Milene V; Senaratne, Tharanga Niroshini; Singh, Kathryn; Nguyen, Dzung C; Gallant, Natalie M; Strom, Samuel P; Ghahremani, Shahnaz; Rao, Nagesh P; Martinez-Agosto, Julian A

    2017-05-01

    The cohesin complex is an evolutionarily conserved multi-subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. The core of the complex consists of four subunits: SMC1A, SMC3, RAD21, and STAG1/2. Loss-of-function mutations in many of these proteins have been implicated in human developmental disorders collectively termed "cohesinopathies." Through clinical exome sequencing (CES) of an 8-year-old girl with a clinical history of global developmental delay, microcephaly, microtia with hearing loss, language delay, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c.205C>T; p.(Arg69*)) in the integral cohesin structural protein, STAG2. This variant is associated with decreased STAG2 protein expression. The analyses of metaphase spreads did not exhibit premature sister chromatid separation; however, delayed sister chromatid cohesion was observed. To further support the pathogenicity of STAG2 variants, we identified two additional female cases from the DECIPHER research database with mutations in STAG2 and phenotypes similar to our patient. Interestingly, the clinical features of these three cases are remarkably similar to those observed in other well-established cohesinopathies. Herein, we suggest that STAG2 is a dosage-sensitive gene and that heterozygous loss-of-function variants lead to a cohesinopathy. © 2017 Wiley Periodicals, Inc.

  10. Focal skin defect, limb anomalies and microphthalmia.

    NARCIS (Netherlands)

    Jackson, K.E.; Andersson, H.C.

    2004-01-01

    We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and

  11. Urinary System anomalies at birth

    Directory of Open Access Journals (Sweden)

    Sharada B. Menasinkai

    2015-06-01

    Full Text Available Background: Congenital anomalies of urinary system are common and are found in 3-4% of population, and lethal urinary anomalies account for 10% of termination of pregnancy. Methods: A study was done to know the incidence of congenital anomalies at birth for the period of 4 months from May 99 - Sept 99 at Cheluvamba hospital attached to Mysore medical college. Congenital anomalies in the still births, live births and aborted fetuses >20 weeks were studied along with the case history and ultrasound reports. Aborted fetuses and still born babies were collected for autopsy after the consent of parents. These babies were fixed in 10% formalin and autopsy was done after fixing, and anomalies were noted. Results: Total births during study period were 3000. There were 61 babies with congenital anomalies and 6 babies had anomalies of urinary system. Among the urinary system anomalies 1 baby had bilateral renal agenesis, 1 baby had unilateral renal agenesis with anophthalmia (Fraser syndrome, 2 babies had Multicystic dysplastic kidney disease (MCDK and 1 live baby had hydronephrosis due to obstruction at pelvi ureteric junction, and 1 live female baby had polycystic kidneys. Conclusion: Incidence of urinary system anomalies in the present study was 2 per 1000 births. U/S detection of urinary anomalies varies with period of gestation, amniotic fluid volume and visualisation of urinary bladder. Autopsy helps to detect renal agenesis. [Int J Res Med Sci 2015; 3(3.000: 743-748

  12. First trimester exposure to anxiolytic and hypnotic drugs and the risks of major congenital anomalies: a United Kingdom population-based cohort study.

    Directory of Open Access Journals (Sweden)

    Lu Ban

    Full Text Available Despite their widespread use the effects of taking benzodiazepines and non-benzodiazepine hypnotics during pregnancy on the risk of major congenital anomaly (MCA are uncertain. The objectives were to estimate absolute and relative risks of MCAs in children exposed to specific anxiolytic and hypnotic drugs taken in the first trimester of pregnancy, compared with children of mothers with depression and/or anxiety but not treated with medication and children of mothers without diagnosed mental illness during pregnancy.We identified singleton children born to women aged 15-45 years between 1990 and 2010 from a large United Kingdom primary care database. We calculated absolute risks of MCAs for children with first trimester exposures of different anxiolytic and hypnotic drugs and used logistic regression with a generalised estimating equation to compare risks adjusted for year of childbirth, maternal age, smoking, body mass index, and socioeconomic status.Overall MCA prevalence was 2.7% in 1,159 children of mothers prescribed diazepam, 2.9% in 379 children with temazepam, 2.5% in 406 children with zopiclone, and 2.7% in 19,193 children whose mothers had diagnosed depression and/or anxiety but no first trimester drug exposures. When compared with 2.7% in 351,785 children with no diagnosed depression/anxiety nor medication use, the adjusted odds ratios were 1.02 (99% confidence interval 0.63-1.64 for diazepam, 1.07 (0.49-2.37 for temazepam, 0.96 (0.42-2.20 for zopiclone and 1.27 (0.43-3.75 for other anxiolytic/hypnotic drugs and 1.01 (0.90-1.14 for un-medicated depression/anxiety. Risks of system-specific MCAs were generally similar in children exposed and not exposed to such medications.We found no evidence for an increase in MCAs in children exposed to benzodiazepines and non-benzodiazepine hypnotics in the first trimester of pregnancy. These findings suggest that prescription of these drugs during early pregnancy may be safe in terms of MCA risk

  13. Dramatically different dizygotic twins: will we include them in Research? Twin research reviews: congenital anomalies, mirror-image effects in conjoined twins, older mothers of twins; Twin statistics: 'Massachusetts, land of twins'; Tribute: Dr Victor A. McKusick.

    Science.gov (United States)

    Segal, Nancy L

    2008-10-01

    The increased frequency of interracial marriage is a likely source of unusual-looking dizygotic (DZ) twins. Some members of DZ twin pairs born to mixed-race couples inherit very different physical features from their parents. This raises several questions, such as: Will researchers wish to include such twins in their ongoing studies? Next, new twin research concerned with congenital anomalies, mirror-image effects in conjoined twins and older mothers of twins will be reviewed. New statistics on twinning rates in Massachusetts will also be summarized, followed by a tribute to the late medical geneticist Dr. Victor A. McKusick.

  14. Pre-conception Folic Acid and Multivitamin Supplementation for the Primary and Secondary Prevention of Neural Tube Defects and Other Folic Acid-Sensitive Congenital Anomalies.

    Science.gov (United States)

    Wilson, R Douglas; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Carroll, June; Cartier, Lola; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Deb-Rinker, Paromita; Dodds, Linda; Leon, Juan Andres; Lowel, Hélène L; Luo, Wei; MacFarlane, Amanda; McMillan, Rachel; Moore, Aideen; Mundle, William; O'Connor, Deborah; Ray, Joel; Van den Hof, Michiel

    2015-06-01

    Objectif : Offrir des renseignements à jour sur l’utilisation pré et postconceptionnelle d’acide folique par voie orale, avec ou sans supplément de multivitamines / micronutriments, aux fins de la prévention des anomalies du tube neural et d’autres anomalies congénitales. Ces renseignements aideront les médecins, les sages-femmes, les infirmières et les autres professionnels de la santé à contribuer aux efforts de sensibilisation des femmes quant à l’utilisation et aux posologies adéquates de la supplémentation en acide folique / multivitamines, avant et pendant la grossesse. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed, Medline, CINAHL et la Cochrane Library en janvier 2011 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « folic acid », « prenatal multivitamins », « folate sensitive birth defects », « congenital anomaly risk reduction », « pre-conception counselling »). Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en juin 2014. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques, et auprès de sociétés de spécialité médicale nationales et internationales. Coûts, risques et avantages : Les coûts financiers sont ceux de la supplémentation quotidienne en vitamines et de la consommation d’un régime alimentaire santé enrichi en folate. Les risques sont ceux qui sont li

  15. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

    Science.gov (United States)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K

    2015-12-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls. © 2015 Wiley Periodicals, Inc.

  16. Bisphenol A and congenital developmental defects in humans

    Energy Technology Data Exchange (ETDEWEB)

    Guida, Maurizio [Department of Medicine, University of Salerno (Italy); Troisi, Jacopo, E-mail: j.troisi@studenti.unisa.it [Department of Medicine, University of Salerno (Italy); Ciccone, Carla [“G. Moscati” Hospital Avellino (Italy); Granozio, Giovanni; Cosimato, Cosimo [Department of Medicine, University of Salerno (Italy); Sardo, Attilio Di Spiezio; Ferrara, Cinzia [Department of Medicine, “Federico II”, University of Naples (Italy); Guida, Marco [Department of Biology, “Federico II”, University of Naples (Italy); Nappi, Carmine [Department of Medicine, “Federico II”, University of Naples (Italy); Zullo, Fulvio [Department of Medicine, University of Salerno (Italy); Di Carlo, Costantino [Department of Medicine, “Federico II”, University of Naples (Italy)

    2015-04-15

    Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls.

  17. Dental anomalies and their value in human identification: a case report.

    Science.gov (United States)

    Tinoco, R L R; Martins, E C; Daruge, E; Daruge, E; Prado, F B; Caria, P H F

    2010-12-01

    Forensic odontology and anthropology provide valuable support with regard to human identification. In some cases, when soft tissue is destroyed, carbonized or absent for whatever reason, bones and teeth become the only source of information about the identity of the deceased. In human identification, anything different, such as variation from normality, becomes an important tool when trying to establish the identity of the deceased. This paper illustrates a positive identification case achieved by the diagnosis of an anomaly of tooth position, with confirmation using skull-photo superimposition. Even though forensic science presents modern techniques, in this particular case, the anomalous position of the canine played a key role on the identification, showing that the presence of a forensic dentist on the forensic team can be of great value.

  18. Estudo da morbidade e da mortalidade perinatal em maternidades: III - Anomalias congênitas em nascidos vivos A study of perinatal morbidity and mortality in maternity hospitals: III - Congenital anomalies in live briths

    Directory of Open Access Journals (Sweden)

    José Maria Pacheco de Souza

    1987-02-01

    Full Text Available Realizou-se estudo das anomalias congênitas encontradas em recém-nascidos vivos, em nove maternidades, durante o ano de 1981-1982. O material é parte de uma pesquisa desenvolvida em sete maternidade do Estado de São Paulo, uma do Rio de Janeiro e uma de Florianópolis, Santa Catarina (Brasil, no período de agosto de 1981 a julho de 1982, quando foram coletados dados sobre todos os nascimentos ocorridos nesses nove serviços. As anomalias congênitas foram definidas como as descritas no XIV.° capítulo da Classificação Internacional de Doenças - 1975, 9ª Revisão, tendo sido utilizada essa classificação para codificá-las. Na análise estatística foram utilizados o X² (com um grau de liberdade, o teste de inclinação para proporções ("Trend test" e a técnica de Berkson para a verificação da hipótese de aderência à distribuição de Poisson. Em 12.782 recém-nascidos vivos, 286 (2,24% apresentavam algum tipo de anomalia congênita, tendo havido 26 (0,20% crianças com duas anomalias, 9 (0,07% com três e duas (0,02 apresentando quatro tipos de malformações congênitas. As deformidades osteomusculares congênitas (código 754 da CID foram as mais freqüentes (19%;segue-se as outras anomalias congênitas do coração (746 com uma freqüência de 14,1%. Ao se analisar a prevalência dessas malformações pela idade da mãe nota-se que há um aumento da prevalência à medida que a idade avança, apenas para Sindrome de Down (758.Congenital anomalies in live births in nine maternities in the period 1981-1982 were studied. This was one aspect of a research project carried out in seven maternities in the State of S.Paulo, one in Rio de Janeiro and another in Florianópolis (Brazil, from which data on all births occurring between August 1981 and July 1982 were obtained. Congenital anomalies were classified according to the XIVth chapter of the CID-1975 - 9thRevision. Chi square for associations and for trend and Berkson

  19. Sight restoration after congenital blindness does not reinstate alpha oscillatory activity in humans.

    Science.gov (United States)

    Bottari, Davide; Troje, Nikolaus F; Ley, Pia; Hense, Marlene; Kekunnaya, Ramesh; Röder, Brigitte

    2016-01-01

    Functional brain development is characterized by sensitive periods during which experience must be available to allow for the full development of neural circuits and associated behavior. Yet, only few neural markers of sensitive period plasticity in humans are known. Here we employed electroencephalographic recordings in a unique sample of twelve humans who had been blind from birth and regained sight through cataract surgery between four months and 16 years of age. Two additional control groups were tested: a group of visually impaired individuals without a history of total congenital blindness and a group of typically sighted individuals. The EEG was recorded while participants performed a visual discrimination task involving intact and scrambled biological motion stimuli. Posterior alpha and theta oscillations were evaluated. The three groups showed indistinguishable behavioral performance and in all groups evoked theta activity varied with biological motion processing. By contrast, alpha oscillatory activity was significantly reduced only in individuals with a history of congenital cataracts. These data document on the one hand brain mechanisms of functional recovery (related to theta oscillations) and on the other hand, for the first time, a sensitive period for the development of alpha oscillatory activity in humans.

  20. Accuracy and reproducibility of transvaginal three-dimensional ultrasonography in diagnosis of congenital uterine anomalies%经阴道三维超声诊断子宫发育异常的准确性及可重复性

    Institute of Scientific and Technical Information of China (English)

    王睿丽; 朱兆领; 张喜君; 袁建军

    2013-01-01

    目的 评价经阴道三维超声(TV3DUS)诊断子宫发育异常的价值及测量宫腔的可重复性.方法 随机选择接受TV3DUS检查的30例子宫正常及49例子宫发育异常的患者进行分析,测量其中39例发育异常子宫的宫腔底部宽度、宫底内膜面向宫腔凸起高度或纵隔长度、宫腔长度.由2名医师在双盲情况下分别独立完成图像的分析、测量和诊断,对诊断结果和测量数据进行一致性检验.结果 2名医师诊断子宫发育异常具有高度一致性(Kappa=0.932,P<0.01).对39例发育异常子宫宫腔径线的测量结果显示,观察者内及观察者间均有高度一致性,组内相关系数均高于0.8.结论 TV3DUS可准确诊断子宫发育异常,其测量宫腔径线的可重复性良好.%Objective To observe the diagnostic value of transvaginal three-dimensional ultrasound (TV3DUS) for congenital uterine anomalies, as well as its reproducibility in the measurement of uterine cavity dimensions. Methods Thirty normal uterine and 49 abnormal uterine were examined with TV3DUS. The assessment of uterine morphology was performed in the standardized coronal plane. For 39 congenital uterine anomalies, the width of the uterine cavity (W) , septum length (SL) and the length of the uterine cavity (CL) were measured. The measurements were done by two independent operators with double blind method. The intraobserver and interobserver variabilities were evaluated. Results The agreement of diagnosis in two operators was good (.Kappa - 0. 932, P0. 8, P< 0.001). Conclusion TV3DUS is a reproducible sensitive method for diagnosis of congenital uterine anomalies and measurement of uterine cavity dimensions.

  1. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies : a European register-based study

    NARCIS (Netherlands)

    Wemakor, Anthony; Casson, Karen; Garne, Ester; Bakker, Marian; Addor, Marie-Claude; Arriola, Larraitz; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Nelen, Vera; O'Mahoney, Mary; Pierini, Anna; Rissmann, Anke; Tucker, David; Boyle, Breidge; de Jong-van den Berg, Lolkje; Dolk, Helen

    2015-01-01

    Evidence of an association between early pregnancy exposure to selective serotonin reuptake inhibitors (SSRI) and congenital heart defects (CHD) has contributed to recommendations to weigh benefits and risks carefully. The objective of this study was to determine the specificity of association betwe

  2. Neuropathological Changes and Clinical Features of Autism Spectrum Disorder Participants Are Similar to that Reported in Congenital and Chronic Cerebral Toxoplasmosis in Humans and Mice

    Science.gov (United States)

    Prandota, Joseph

    2010-01-01

    Anatomic, histopathologic, and MRI/SPET studies of autistic spectrum disorders (ASD) patients' brains confirm existence of very early developmental deficits. In congenital and chronic murine toxoplasmosis several cerebral anomalies also have been reported, and worldwide, approximately two billion people are chronically infected with T. "gondii"…

  3. CONGENITAL QUADRICUSPID AORTIC-VALVE

    NARCIS (Netherlands)

    BROUWER, MHJ; DEGRAAF, JJ; EBELS, T

    1993-01-01

    Two patients with a quadricuspid aortic valve are described, one of them with concomitant juxtaposed coronary orifices facing the right hand facing sinus. The etiology and incidence of this congenital anomaly will be discussed.

  4. Pre-conceptional vitamin/folic acid supplementation 2007: the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies.

    Science.gov (United States)

    Wilson, R Douglas; Johnson, Jo-Ann; Wyatt, Philip; Allen, Victoria; Gagnon, Alain; Langlois, Sylvie; Blight, Claire; Audibert, François; Désilets, Valerie; Brock, Jo-Ann; Koren, Gideon; Goh, Y Ingrid; Goh, Ingrid; Nguyen, Patricia; Kapur, Bhushan

    2007-12-01

    To provide information regarding the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies, so that physicians, midwives, nurses, and other health care workers can assist in the education of women in the pre-conception phase of their health care. OPTION: Supplementation with folic acid and vitamins is problematic, since 50% of pregnancies are unplanned, and women's health status may not be optimal when they conceive. Folic acid in combination with a multivitamin supplement has been associated with a decrease in specific birth defects. Medline, PubMed, and Cochrane Database were searched for relevant English language articles published between 1985 and 2007. The previous Society of Obstetricians and Gynaecologists of Canada (SOGC) Policy Statement of November 1993 and statements from the American College of Obstetrics and Gynecology and Canadian College of Medical Geneticists were also reviewed in developing this clinical practice guideline. The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care. Promoting the use of folic acid and a multivitamin supplement among women of reproductive age will reduce the incidence of birth defects. The costs are those of daily vitamin supplementation and eating a healthy diet. 1. Women in the reproductive age group should be advised about the benefits of folic acid in addition to a multivitamin supplement during wellness visits (birth control renewal, Pap testing, yearly examination) especially if pregnancy is contemplated. (III-A) 2. Women should be advised to maintain a healthy diet, as recommended in Eating Well With Canada's Food Guide (Health Canada). Foods containing excellent to good sources of folic acid are fortified grains, spinach, lentils, chick peas, asparagus, broccoli, peas, Brussels sprouts, corn, and oranges. However, it is unlikely that diet alone can provide

  5. Study of Soluble HLA-G in Congenital Human Cytomegalovirus Infection

    Science.gov (United States)

    Gabrielli, Liliana; Bortolotti, Daria; Gentili, Valentina; Piccirilli, Giulia; Chiereghin, Angela; Pavia, Claudia; Bolzani, Silvia; Guerra, Brunella; Simonazzi, Giuliana; Cervi, Francesca; Capretti, Maria Grazia; Luca, Dario Di; Landini, Maria Paola; Lazzarotto, Tiziana

    2016-01-01

    Human leukocyte antigen-G (HLA-G) is a nonclassical HLA class I antigen that is expressed during pregnancy contributing to maternal-fetal tolerance. HLA-G can be expressed as membrane-bound and soluble forms. HLA-G expression increases strongly during viral infections such as congenital human cytomegalovirus (HCMV) infections, with functional consequences in immunoregulation. In this work we investigated the expression of soluble (s)HLA-G and beta-2 microglobulin (component of HLA) molecules in correlation with the risk of transmission and severity of congenital HCMV infection. We analyzed 182 blood samples from 130 pregnant women and 52 nonpregnant women and 56 amniotic fluid samples from women experiencing primary HCMV infection. The median levels of sHLA-G in maternal serum of women with primary HCMV infection were higher in comparison with nonprimary and uninfected pregnant women (p < 0.001). AF from HCMV symptomatic fetuses presented higher sHLA-G levels in comparison with infected asymptomatic fetuses (p < 0.001), presence of HLA-G free-heavy chain, and a concentration gradient from amniotic fluid to maternal blood. No significant statistical difference of beta-2 microglobulin median levels was observed between all different groups. Our results suggest the determination of sHLA-G molecules in both maternal blood and amniotic fluid as a promising biomarker of diagnosis of maternal HCMV primary infection and fetal HCMV disease. PMID:27699182

  6. Exposure to misoprostol and hormones during pregnancy and risk of congenital anomalies Exposição ao misoprostol e hormônios durante a gravidez e risco de anomalia congênita

    Directory of Open Access Journals (Sweden)

    Tatiane da Silva Dal Pizzol

    2008-06-01

    Full Text Available This study evaluated the association between use of misoprostol and other drugs to induce menstruation, and congenital anomalies. A sample of 4,856 pregnant women 20 years and older were enrolled consecutively in prenatal services in the Unified National Health System, in six Brazilian State capitals. Data on socio-demographics and use of medicines were obtained using an interview from the 21st to 28th week of pregnancy. Other data, including information on delivery and diagnosis of congenital anomalies by the attending neonatal physician were obtained from patient charts. Potential confounders were adjusted by logistic regression. Use of drugs to induce menstruation was reported by 707 women (14.6%, of whom 120 (17% reported use of misoprostol. After adjusting for the study center, a positive association was observed between misoprostol and congenital anomalies (OR = 2.64; 95%CI: 1.03-6.75; a positive association was also observed for sex hormones (OR = 2.24; 95%CI: 1.06-4.74. The results suggest that the use of misoprostol or sex hormones during pregnancy increases the risk of congenital anomalies.Este estudo avalia a associação do uso do misoprostol e de outros produtos utilizados para induzir a menstruação com anomalia congênita. Foram arroladas consecutivamente 4.856 mulheres com vinte anos de idade ou mais, procedentes de serviços de pré-natal do Sistema Único de Saúde em seis capitais brasileiras. Dados sócio-demográficos e o uso de medicamentos foram obtidos por meio de entrevista, entre a 21ª e a 28ª semanas de gestação. Outros dados, incluindo informações sobre o parto e o diagnóstico de anomalia congênita, realizado pelo médico que assistiu o recém-nascido, foram obtidos no prontuário. Potenciais confundidores foram ajustados por meio de regressão logística. O uso de produtos para induzir a menstruação foi relatado por 707 gestantes (14,6%, das quais 120 (17% referiram-se ao misoprostol. Após ajustamento

  7. Normalisation of a severely abnormal ductus venosus Doppler flow velocity waveform in a growth-retarded fetus with absent end-diastolic flow in the umbilical artery and congenital anomalies.

    Science.gov (United States)

    Müller, T; Rehn, M; Girschick, G; Kristen, P; Dietl, J

    2001-01-01

    Doppler recordings of fetal venous blood flow seem to be superior to arterial velocimetry and CTG concerning the prediction of fetal outcome and optimal time of delivery in pregnancies with fetal growth retardation and AREDV. An improvement of arterial Doppler flow velocities has been described. We report the reappearance of a normal end-diastolic flow velocity in a ductus venosus temporarily showing reversed end-diastolic flow in a growth-retarded fetus with congenital anomalies. This normalization was accompanied by an improvement of the CTG, a loss of umbilical vein pulsations, a reappearance of umbilical diastolic flow and a progressive return of cerebral and venous blood flow into the 'normal' range. Improvement of fetal condition may be the explanation for our observation.

  8. Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning.

    Science.gov (United States)

    Mirzayans, F; Mears, A J; Guo, S W; Pearce, W G; Walter, M A

    1997-01-01

    Genome-mismatch scanning (GMS) is a new method of linkage analysis that rapidly isolates regions of identity between two genomes. DNA molecules from regions of identity by descent from two relatives are isolated based on their ability to form extended mismatch-free heteroduplexes. We have applied this rapid technology to identify the chromosomal region shared by two fifth-degree cousins with autosomal dominant iridogoniodysgenesis anomaly (IGDA), a rare ocular neurocristopathy. Markers on the short arm of human chromosome 6p were recovered, consistent with the results of conventional linkage analysis conducted in parallel, indicating linkage of IGDA to 6p25. Control markers tested on a second human chromosome were not recovered. A GMS error rate of approximately 11% was observed, well within an acceptable range for a rapid, first screening approach, especially since GMS results would be confirmed by family analysis with selected markers from the putative region of identity by descent. These results demonstrate not only the value of this technique in the rapid mapping of human genetic traits, but the first application of GMS to a multicellular organism. Images Figure 2 PMID:9245991

  9. A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.

    Science.gov (United States)

    Poot, Martin; Hochstenbach, Ron

    2010-08-01

    One of the aims of clinical genetics is to identify gene mutations or genomic rearrangements that may underlie complex presentations of phenotypic features, such as multiple congenital malformations and mental retardation. During the decade after publication of the first article on array-based comparative genome hybridization, this technique has supplemented karyotyping as the prime genome-wide screening method in patients with idiopathic multiple congenital malformations and mental retardation. The use of this novel, discovery-based, approach has dramatically increased the detection rate of genomic imbalances. Array-based comparative genome hybridization detects copy number changes in the genome of patients and healthy subjects, some of which may represent phenotypically neutral copy number variations. This prompts the need for properly distinguishing between those copy number changes that may contribute to the clinical phenotype amid a pool of neutral copy number variations. We briefly review the characteristics of copy number changes in relation to their clinical relevance. Second, we discuss several published workflow schemes to identify copy number changes putatively contributing to the phenotype, and third, we propose a three-step procedure aiming to rapidly evaluate copy number changes on a case-by-case basis as to their potential contribution to the phenotype of patients with idiopathic multiple congenital malformations and mental retardation. This workflow is gene-centered and should aid in identification of disease-related candidate genes and in estimating the recurrence risk for the disorder in the family.

  10. Congenital Anomalies Associated with Trisomy 18 or Trisomy 13 : A Registry-Based Study in 16 European Countries, 2000-2011

    NARCIS (Netherlands)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K.

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and termina

  11. Congenital Anomalies Associated with Trisomy 18 or Trisomy 13 : A Registry-Based Study in 16 European Countries, 2000-2011

    NARCIS (Netherlands)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K.

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and

  12. Congenital Anomalies Associated with Trisomy 18 or Trisomy 13 : A Registry-Based Study in 16 European Countries, 2000-2011

    NARCIS (Netherlands)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K.

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and termina

  13. Radiographic identification of human remains through deformities and anomalies of post-cranial bones: a report of two cases.

    Science.gov (United States)

    Rougé, D; Telmon, N; Arrue, P; Larrouy, G; Arbus, L

    1993-07-01

    Human remains can be identified radiographically by anomalies and deformities of the post-cranial bones when there are no old fractures and the cranium and extremities are not available. These anomalies and deformities of the sternum, vertebrae, sacrum and innominate bone are often protected from damage by scavengers. We report their use to exclude a proposed identity in one case and to confirm identity in another case. The value and number of these criteria and their pathogenesis is discussed with reference to their prevalence and their expression of inter- and intraindividual variability.

  14. A Case of Congenital Syndromic Hydrocephalus: A Subtype of ‘Game-Friedman-Paradice Syndrome'

    Directory of Open Access Journals (Sweden)

    Tapan Kumar Jana

    2013-01-01

    Full Text Available Human hydrocephalus is a disorder of abnormality in CSF flow or resorption, which has been classified in pertinent literature as congenital and acquired. Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome. This report describes a case with congenital foetal hydrocephalus, hypoplastic lungs with super-numery lobations and large left lobe of liver compared to right. Thus far, a review of the literature indicates that this case can be postulated as a subtype of Game-Friedman-Paradice syndrome.

  15. Screening and Characterization of Spontaneous Porcine Congenital Heart Defects for Gene Identification and Models of Human Disease

    Science.gov (United States)

    Background: Rodent models of human congenital birth defects have been instrumental for gene discovery and investigation of mechanisms of disease. However, these models are limited by their small size making practiced intervention or detailed anatomic evaluation difficult. Swine have similar anato...

  16. 三维超声成像对先天性子宫畸形的诊断价值%The diagnostic value of three-dimensional ultrasound for congenital uterine anomalies

    Institute of Scientific and Technical Information of China (English)

    谭步巧; 胡卫红; 刘干; 李建聪; 李国宏

    2012-01-01

    Objective To investigate the diagnostic value of three-dimensioaK 3D) ultrasonography for congenital uterine anomalies. Methods Fifty patients which were suspected to suffer congenital uterine anomalies were examined by two -dimensional(2D) ultrasonography and 3D ultrasonography and the results were compared. The sonographic features of uterine anomalies were illustrated. Results Among 50 cases,6 cases were diagnosed as didelphic uterus.,20 cases were subseptate uterus,8 cases were complete septate uterus, 10 cases were bicornuate uterus,4 cases were arcuate uterus and 2 cases were single horn uterus. The accuracy rate of 3D ultrasound was 100% , while the accuracy rate of 2D ultrasound was 84%. Didelphic uterus appeared as two independent uteri. The fundal shape of septate uterus was basically normal,the endometrial cavity of subseptate uterus appeared "Y" shape,while that of complete septate uterus appeared "V" shape. The bicornuate uterus fundal depressed, the endometrial cavity appeared "Y" shape and the angle was bigger. The arcuate uterus shape was normal but the fundal endometrial was concave slightly. The single horn uterus shape was spindle, the endometrial cavity showed a single angular. Conclusion 3D ultrasonography can show the morphological structure of uterine cavity and the appearance of fundus, It is significantly superior to 2D ultrasonography in the diagnosis of congenital uterine anomalies and can be used as a simple, convenient and accurate diagnostic method.%目的 探讨三维超声成像对先天性子宫畸形的诊断价值.方法 对50例疑为先天性子宫畸形患者行二维超声和三维超声检查,结果进行对比分析.结果50例患者中,双子宫6例,不完全型纵隔子宫20例,完全型纵隔子宫8例,双角子宫10例,弓形子宫4例,单角子宫2例,三维超声诊断准确率为100%,二维超声诊断准确率为84%.双子宫三维超声表现为2个独立子宫;纵隔子宫宫底外形基本正常,不完全

  17. Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies.

    Science.gov (United States)

    Johnston, D R; Whittemore, K; Poe, D; Robson, C D; Perez-Atayde, A R

    2011-10-01

    Described is the first case report, to our knowledge, of a middle-ear dermoid in a child with branchio-oto-renal (BOR) syndrome. Radiographic, pathologic, and intraoperative figures are shown. This was a diagnostic and surgical challenge as the presentation was similar to a congenital cholesteatoma and the child had numerous significant temporal bone abnormalities. After the intraoperative findings suggested a non-destructive process, the treatment strategy was altered. This case reiterates the need for a cautious, flexible operative approach in a syndromic child. Included is a relevant review of the literature and a detailed clinical analysis. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  18. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  19. Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms.

    Science.gov (United States)

    Azzi, Salah; Brioude, Fréderic; Le Bouc, Yves; Netchine, Irène

    2014-01-01

    Genomic imprinting is among the most important epigenetic mechanisms whereby expression of a subset of genes is restricted to a single parental allele. Loss of imprinting (LOI) through hypo or hyper methylation is involved in various human syndromes. These LOI occur early during development and usually impair growth. Some imprinting syndromes are the consequences of genetic anomalies, such as uniparental disomies (UPD) or copy number variations (deletion or duplications) involving the imprinted domains; others are due to LOI at the imprinting control regions (ICR) regulating each domain. Imprinting disorders are phenotypically heterogeneous, although some share various common clinical features such that diagnosis may be difficult. Multilocus imprinting defects associated with several syndromes have been increasingly reported in recent years, although there are no obvious clinical differences between monolocus and multilocus LOI patients. Subsequently, some rare mutations of transacting factors have been identified in patients with multilocus imprinting defects but they do not explain the majority of the cases; this therefore implies that other factors are involved. By contrast, no mutation of a transacting factor has yet been identified in monolocus LOI. The effect of the environment on the regulation of imprinting is clearly illustrated by studies of assisted reproductive technology (ART). The regulation of imprinting is complex and involves a huge range of genetic and environmental factors; the identification of these factors will undoubtedly help to elucidate the regulation of imprinting and contribute to the understanding of imprinting disorders. This would be beneficial for diagnostics, clinical follow up and the development of treatment guidelines.

  20. The tropical African mercury anomaly: lower than expected mercury concentrations in fish and human hair.

    Science.gov (United States)

    Black, Frank J; Bokhutlo, Thethela; Somoxa, Aaron; Maethamako, Mothusi; Modisaemang, Ontlogetse; Kemosedile, Thebe; Cobb-Adams, Cristina; Mosepele, Ketlhatlogile; Chimbari, Moses

    2011-04-15

    Mercury is a neurotoxin and global pollutant, and wetlands and newly flooded areas are known to be sites of enhanced production of monomethylmercury, the form of mercury that is readily biomagnified in aquatic food chains to potentially toxic levels. The Okavango Delta in Botswana, Southern Africa, is the largest inland delta in the world and a wetland ecosystem that experiences dramatic annual flooding of large tracts of seasonal floodplains. The Delta was, therefore, expected to be home to high mercury levels in fish and to be an area where local subsistence fishing communities would be at substantial risk of mercury toxicity from fish consumption. Total mercury concentrations measured in 27 species of fish from the Okavango Delta averaged (mean±s.d., wet weight) 19±19ng g(-1) in non-piscivorous fish, and 59±53ng g(-1) in piscivorous fish. These mercury concentrations are similar to those reported for fish from lakes in other areas of tropical Africa, demonstrating that not all wetlands are sites of elevated mercury concentrations in biota. Even more intriguing is that concentrations of mercury in fish from across tropical Africa are systematically and substantially lower than those typically reported for fish from freshwater ecosystems elsewhere globally. The reasons for this apparent "African mercury anomaly" are unclear, but this finding poses a unique opportunity to improve our understanding of mercury's biogeochemical cycling in the environment. Mercury concentrations measured in human hair collected in subsistence fishing communities in the Okavango Delta were similarly low (0.21±0.22μg g(-1) dry weight) despite high levels of fish consumption, and reflect the low mercury concentrations in the fish here.

  1. Homocysteine related Nutritional and Genetic Risk Factors for Human Congenital Heart Defects

    NARCIS (Netherlands)

    A.C. Verkleij-Hagoort (Anna)

    2007-01-01

    textabstractCongenital heart defects (CHDs) belong to the most common group of major congenital malformations in newborns. Most CHDs are considered complex diseases with a multifactorial aetiology, which are thought to result from interactions between genetic and environmental factors. This thesis p

  2. Neural and Synaptic Defects in slytherin a Zebrafish Model for Human Congenital Disorders of Glycosylation

    Energy Technology Data Exchange (ETDEWEB)

    Y Song; J Willer; P Scherer; J Panzer; A Kugath; E Skordalakes; R Gregg; G Willer; R Balice-Gordon

    2011-12-31

    Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some aspects of CDG IIc pathogenesis, the molecular and cellular mechanisms remain poorly understood. We have identified a zebrafish mutant slytherin (srn), which harbors a missense point mutation in GDP-mannose 4,6 dehydratase (GMDS), the rate-limiting enzyme in protein fucosylation, including that of Notch. Here we report that some of the mechanisms underlying the neural phenotypes in srn and in CGD IIc are Notch-dependent, while others are Notch-independent. We show, for the first time in a vertebrate in vivo, that defects in protein fucosylation leads to defects in neuronal differentiation, maintenance, axon branching, and synapse formation. Srn is thus a useful and important vertebrate model for human CDG IIc that has provided new insights into the neural phenotypes that are hallmarks of the human disorder and has also highlighted the role of protein fucosylation in neural development.

  3. Congenital Hypothyroidism

    Science.gov (United States)

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  4. Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.

    Science.gov (United States)

    Jaiswal, Sushil Kumar; Kumar, Ashok; Ali, Akhtar; Rai, Amit Kumar

    2015-03-15

    The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400 kb in size). Moreover, 255 kbp intermittent deletion of chromosome 2q13 involving RGPD5, RGPD6, LIMS3, and LIMS3-LOC440895 was also observed. Correlating microarray data with the mosaic karyotype, the marker chromosome was identified as mosaic isochromosome 18p and was found to be 32,600 kbp in size. Baby resembled clinical characteristics of trisomy chromosome 18p, isochromosome 18p and trisomy chromosome 18. The present study suggested that deletion of evolutionarily conserved developmental genes (RGPD5, RGPD and LIMS3) in the 2q13 region might have contributed to more severity in phenotype as compared to so far such reported cases of 18p trisomy's, as these are involved in nuclear-cytoplasm trafficking, signaling for tissue patterning and differentiation.

  5. IMPROVED SEMI-AUTOMATED 4D-FLOW MRI ANALYSIS IN THE AORTA IN PATIENTS WITH CONGENITAL AORTIC VALVE ANOMALIES VS TRICUSPID AORTIC VALVES

    Science.gov (United States)

    Schnell, Susanne; Entezari, Pegah; Mahadewia, Riti J.; Malaisrie, S. Chris; McCarthy, Patrick M.; Collins, Jeremy D.; Carr, James; Markl, Michael

    2015-01-01

    Objective To systematically investigate a newly developed semi-automated workflow for the analysis of aortic 4D-flow MRI and its ability to detect hemodynamic differences in patients with congenitally altered aortic valve (CAV, bicuspid or quadricuspid valves) compared to tricuspid aortic valves (TAV). Methods 4D-flow MRI data were acquired in 20 aortic dilation patients (9 TAV, 11 CAV). A semi-automated workflow was evaluated regarding inter-observer variability, accuracy of net flow, regurgitant fraction and peak systolic velocity, and the ability to detect differences between cohorts. Results were compared to manual segmentation of vessel contours. Results Despite the significantly reduced analysis time a good inter-observer agreement was found for net flow and peak systolic velocity and moderate agreement for regurgitation. Significant differences in peak velocities in the descending aorta (P=0.014) could be detected. Conclusions 4D-flow MRI-based semi-automated analysis of aortic hemodynamics can be performed with good reproducibility and accuracy. PMID:26466113

  6. Maternal age-specific risk of non-chromosomal anomalies

    NARCIS (Netherlands)

    Loane, M.; Dolk, H.; Morris, Joan K.

    To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004.

  7. Maternal age-specific risk of non-chromosomal anomalies

    NARCIS (Netherlands)

    Loane, M.; Dolk, H.; Morris, Joan K.

    2009-01-01

    To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004.

  8. Plasticity of the human visual system after retinal gene therapy in patients with Leber's congenital amaurosis.

    Science.gov (United States)

    Ashtari, Manzar; Zhang, Hui; Cook, Philip A; Cyckowski, Laura L; Shindler, Kenneth S; Marshall, Kathleen A; Aravand, Puya; Vossough, Arastoo; Gee, James C; Maguire, Albert M; Baker, Chris I; Bennett, Jean

    2015-07-15

    Much of our knowledge of the mechanisms underlying plasticity in the visual cortex in response to visual impairment, vision restoration, and environmental interactions comes from animal studies. We evaluated human brain plasticity in a group of patients with Leber's congenital amaurosis (LCA), who regained vision through gene therapy. Using non-invasive multimodal neuroimaging methods, we demonstrated that reversing blindness with gene therapy promoted long-term structural plasticity in the visual pathways emanating from the treated retina of LCA patients. The data revealed improvements and normalization along the visual fibers corresponding to the site of retinal injection of the gene therapy vector carrying the therapeutic gene in the treated eye compared to the visual pathway for the untreated eye of LCA patients. After gene therapy, the primary visual pathways (for example, geniculostriate fibers) in the treated retina were similar to those of sighted control subjects, whereas the primary visual pathways of the untreated retina continued to deteriorate. Our results suggest that visual experience, enhanced by gene therapy, may be responsible for the reorganization and maturation of synaptic connectivity in the visual pathways of the treated eye in LCA patients. The interactions between the eye and the brain enabled improved and sustained long-term visual function in patients with LCA after gene therapy.

  9. Congenital scoliosis - Quo vadis?

    Directory of Open Access Journals (Sweden)

    Debnath Ujjwal

    2010-01-01

    Full Text Available Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions and patient′s age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the

  10. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  11. Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to pain.

    Directory of Open Access Journals (Sweden)

    Jacinthe Gingras

    Full Text Available Clinical genetic studies have shown that loss of Nav1.7 function leads to the complete loss of acute pain perception. The global deletion is reported lethal in mice, however, and studies of mice with promoter-specific deletions of Nav1.7 have suggested that the role of Nav1.7 in pain transduction depends on the precise form of pain. We developed genetic and animal husbandry strategies that overcame the neonatal-lethal phenotype and enabled construction of a global Nav1.7 knockout mouse. Knockouts were anatomically normal, reached adulthood, and had phenotype wholly analogous to human congenital indifference to pain (CIP: compared to littermates, knockouts showed no defects in mechanical sensitivity or overall movement yet were completely insensitive to painful tactile, thermal, and chemical stimuli and were anosmic. Knockouts also showed no painful behaviors resulting from peripheral injection of nonselective sodium channel activators, did not develop complete Freund's adjuvant-induced thermal hyperalgesia, and were insensitive to intra-dermal histamine injection. Tetrodotoxin-sensitive sodium current recorded from cell bodies of isolated sensory neurons and the mechanically-evoked spiking of C-fibers in a skin-nerve preparation each were reduced but not eliminated in tissue from knockouts compared to littermates. Results support a role for Nav1.7 that is conserved between rodents and humans and suggest several possibly translatable biomarkers for the study of Nav1.7-targeted therapeutics. Results further suggest that Nav1.7 may retain its key role in persistent as well as acute forms of pain.

  12. Neurotrophins expression is decreased in lungs of human infants with congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    O'Hanlon LD

    2014-02-01

    Full Text Available Lynn D O'Hanlon, Sherry M Mabry, Ikechukwu I EkekezieChildren's Mercy Hospitals/University of Missouri-Kansas City School of Medicine, Department of Pediatrics, Section of Neonatal-Perinatal Medicine, Kansas City, MO, USAObjectives: To evaluate neurotrophin (NT (nerve growth factor [NGF], NT-3, and brain-derived neurotrophic factor [BDNF] expression in autopsy lung tissues of human congenital diaphragmatic hernia (CDH infants versus that of infants that expired with: 1 "normal" lungs (controls; 2 chronic lung disease (CLD; and 3 pulmonary hypertension (PPHN.Hypothesis: NT expression will be significantly altered in CDH lung tissue compared with normal lung tissue and other neonatal lung diseases.Study design: Immunohistochemical studies for NT proteins NGF, BDNF, and NT-3 were applied to human autopsy neonatal lung tissue samples.Subject selection: The samples included a control group of 18 samples ranging from 23-week gestational age to term, a CDH group of 15 samples, a PPHN group of six samples, and a CLD group of 12 samples.Methodology: The tissue samples were studied, and four representative slide fields of alveoli/saccules and four of bronchioles were recorded from each sample. These slide fields were then graded (from 0 to 3 by three blinded observers for intensity of staining.Results: BDNF, NGF, and NT-3 immunostaining intensity scores were significantly decreased in the CDH lung tissue (n=15 compared with normal neonatal lung tissue (n=18 (P<0.001. The other neonatal pulmonary diseases that were studied, CLD and PPHN, were much less likely to be affected and were much more variable in their neurotrophin expression.Conclusion: NT expression is decreased in CDH lungs. The decreased expression of NT in CDH lung tissue may suggest they contribute to the abnormality in this condition.Keywords: nerve growth factor, NGF, brain-derived neurotrophic factor, BDNF, neurotrophin-3, NT-3, chronic lung disease, persistent pulmonary hypertension, lung

  13. Tracheal quadrifurcation associated with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

    2015-08-15

    Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

  14. [Congenital malformations: care or predict?].

    Science.gov (United States)

    Pellerin, D

    1993-02-01

    Spectacular scientific and technological advances made in the last decade have had such a profound impact on biological and medical science that they have dramatically modified the citizen's behaviour concerning life events, especially congenital malformation. Prenatal diagnosis (PND) leads to do the diagnosis of almost all fetal internal and external malformations. The matter is, not only to care, but, first to know. The positive efficiency of PND is sometimes preparing the best cares and, of course, to recognize many severe anomalies postnatally diagnosed before PND time, and carrying wellknown 50% rate mortality by neo-natal surgery. Congenital diaphragmatic hernia is pointed out as a good example of it, and of hopes and disappointing in utero foetal surgery. New protocol of assessment of fetal renal function is an appreciated method to do prognosis of some fetal uropathies before late in utero drainage, for a short time waiting for necessary maturation of lungs allowing premature delivery. The possibility to do PND of small and benign malformation leads to ask for the question of utility of to know. In spite of the respect of quality of life, can we really allow this type of human selection to be made? The next knowledges of the human genoma map bring us into the predictive medicine. Using "compulsory" PND is a real risk to practice dangerously, a soft eugenism. PND must be, and remain an outstanding advance to provide better treatment.

  15. Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Chunxue; Pallan, Pradeep S.; Zhang, Wei; Lei, Li; Yoshimoto, Francis K.; Waterman, Michael R.; Egli, Martin; Guengerich, F. Peter (Vanderbilt-MED)

    2017-05-24

    Cytochrome P450 (P450, CYP) 21A2 is the major steroid 21-hydroxylase, converting progesterone to 11-deoxycorticosterone and 17α-hydroxyprogesterone (17α-OH-progesterone) to 11-deoxycortisol. More than 100 CYP21A2 variants give rise to congenital adrenal hyperplasia (CAH). We previously reported a structure of WT human P450 21A2 with bound progesterone and now present a structure bound to the other substrate (17α-OH-progesterone). We found that the 17α-OH-progesterone- and progesterone-bound complex structures are highly similar, with only some minor differences in surface loop regions. Twelve P450 21A2 variants associated with either salt-wasting or nonclassical forms of CAH were expressed, purified, and analyzed. The catalytic activities of these 12 variants ranged from 0.00009% to 30% of WT P450 21A2 and the extent of heme incorporation from 10% to 95% of the WT. Substrate dissociation constants (Ks) for four variants were 37–13,000-fold higher than for WT P450 21A2. Cytochrome b5, which augments several P450 activities, inhibited P450 21A2 activity. Similar to the WT enzyme, high noncompetitive intermolecular kinetic deuterium isotope effects (≥ 5.5) were observed for all six P450 21A2 variants examined for 21-hydroxylation of 21-d3-progesterone, indicating that C–H bond breaking is a rate-limiting step over a 104-fold range of catalytic efficiency. Using UV-visible and CD spectroscopy, we found that P450 21A2 thermal stability assessed in bacterial cells and with purified enzymes differed among salt-wasting- and nonclassical-associated variants, but these differences did not correlate with catalytic activity. Our in-depth investigation of CAH-associated P450 21A2 variants reveals critical insight into the effects of disease-causing mutations on this important enzyme.

  16. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

    Science.gov (United States)

    Cideciyan, Artur V; Jacobson, Samuel G; Beltran, William A; Sumaroka, Alexander; Swider, Malgorzata; Iwabe, Simone; Roman, Alejandro J; Olivares, Melani B; Schwartz, Sharon B; Komáromy, András M; Hauswirth, William W; Aguirre, Gustavo D

    2013-02-05

    Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration of photoreceptors. Clinical trials with gene augmentation therapy have shown partial reversal of the dysfunction, but the effects on the degeneration are not known. We evaluated the consequences of gene therapy on retinal degeneration in patients with RPE65-LCA and its canine model. In untreated RPE65-LCA patients, there was dysfunction and degeneration of photoreceptors, even at the earliest ages. Examined serially over years, the outer photoreceptor nuclear layer showed progressive thinning. Treated RPE65-LCA showed substantial visual improvement in the short term and no detectable decline from this new level over the long term. However, retinal degeneration continued to progress unabated. In RPE65-mutant dogs, the first one-quarter of their lifespan showed only dysfunction, and there was normal outer photoreceptor nuclear layer thickness retina-wide. Dogs treated during the earlier dysfunction-only stage showed improved visual function and dramatic protection of treated photoreceptors from degeneration when measured 5-11 y later. Dogs treated later during the combined dysfunction and degeneration stage also showed visual function improvement, but photoreceptor loss continued unabated, the same as in human RPE65-LCA. The results suggest that, in RPE65 disease treatment, protection from visual function deterioration cannot be assumed to imply protection from degeneration. The effects of gene augmentation therapy are complex and suggest a need for a combinatorial strategy in RPE65-LCA to not only improve function in the short term but also slow retinal degeneration in the long term.

  17. Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

    Directory of Open Access Journals (Sweden)

    Kristen N Stevens

    Full Text Available Congenital heart disease (CHD is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1 is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.

  18. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  19. Congenital Cataract Screening

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  20. Mouse Model of Human Congenital Heart Disease: Progressive Atrioventricular Block Induced by a Heterozygous Nkx2-5 Homeodomain Missense Mutation.

    Science.gov (United States)

    Chowdhury, Rajib; Ashraf, Hassan; Melanson, Michelle; Tanada, Yohei; Nguyen, Minh; Silberbach, Michael; Wakimoto, Hiroko; Benson, D Woodrow; Anderson, Robert H; Kasahara, Hideko

    2015-10-01

    Heterozygous human NKX2-5 homeodomain (DNA-binding domain) missense mutations are highly penetrant for varied congenital heart defects, including progressive atrioventricular (AV) block requiring pacemaker implantation. We recently replicated this genetic defect in a murine knockin model, in which we demonstrated highly penetrant, pleiotropic cardiac anomalies. In this study, we examined postnatal AV conduction in the knockin mice. A murine knockin model (Arg52Gly, Nkx2-5(+/R52G)) in a 129/Sv background was analyzed by histopathology, surface, and telemetry ECG, and in vivo electrophysiology studies, comparing with control Nkx2-5(+/+) mice at diverse postnatal stages, ranging from postnatal day 1 (P1) to 17 months. PR prolongation (first degree AV block) was present at 4 weeks, 7 months, and 17 months of age, but not at P1 in the mutant mice. Advanced AV block was also occasionally demonstrated in the mutant mice. Electrophysiology studies showed that AV nodal function and right ventricular effective refractory period were impaired in the mutant mice, whereas sinus nodal function was not affected. AV nodal size was significantly smaller in the mutant mice than their controls at 4 weeks of age, corresponding to the presence of PR prolongation, but not P1, suggesting, at least in part, that the conduction abnormalities are the result of a morphologically atrophic AV node. The highly penetrant and progressive AV block phenotype seen in human heterozygous missense mutations in NKX2-5 homeodomain was replicated in mice by knocking in a comparable missense mutation. © 2015 American Heart Association, Inc.

  1. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

    Science.gov (United States)

    Berry, Vanita; Gregory-Evans, Cheryl; Emmett, Warren; Waseem, Naushin; Raby, Jacob; Prescott, DeQuincy; Moore, Anthony T; Bhattacharya, Shomi S

    2013-12-01

    Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to the Wolfram gene (WFS1). By sequencing the coding regions and intron-exon boundaries of WFS1, we identified a DNA substitution (c.1385A-to-G) in exon 8, causing a missense mutation at codon 462 (E462G) of the Wolframin protein. This is the first report of a mutation in this gene causing an isolated nuclear congenital cataract. These findings suggest that the membrane trafficking protein Wolframin may be important for supporting the developing lens.

  2. Morning glory disc anomaly with Chiari type I malformation.

    Science.gov (United States)

    Arlow, Tim; Arepalli, Sruthi; Flanders, Adam E; Shields, Carol L

    2014-04-30

    Morning glory disc anomaly is a rare optic nerve dysplasia associated with various neovascular abnormalities. Due to these associations, children with morning glory disc anomaly have brain imaging and angiography to detect other congenital defects. The authors report the case of an infant with morning glory disc anomaly and coexisting Chiari type I malformation.

  3. ALDH1A2 (RALDH2 genetic variation in human congenital heart disease

    Directory of Open Access Journals (Sweden)

    Mesquita Sonia MF

    2009-11-01

    Full Text Available Abstract Background Signaling by the vitamin A-derived morphogen retinoic acid (RA is required at multiple steps of cardiac development. Since conversion of retinaldehyde to RA by retinaldehyde dehydrogenase type II (ALDH1A2, a.k.a RALDH2 is critical for cardiac development, we screened patients with congenital heart disease (CHDs for genetic variation at the ALDH1A2 locus. Methods One-hundred and thirty-three CHD patients were screened for genetic variation at the ALDH1A2 locus through bi-directional sequencing. In addition, six SNPs (rs2704188, rs1441815, rs3784259, rs1530293, rs1899430 at the same locus were studied using a TDT-based association approach in 101 CHD trios. Observed mutations were modeled through molecular mechanics (MM simulations using the AMBER 9 package, Sander and Pmemd programs. Sequence conservation of observed mutations was evaluated through phylogenetic tree construction from ungapped alignments containing ALDH8 s, ALDH1Ls, ALDH1 s and ALDH2 s. Trees were generated by the Neighbor Joining method. Variations potentially affecting splicing mechanisms were cloned and functional assays were designed to test splicing alterations using the pSPL3 splicing assay. Results We describe in Tetralogy of Fallot (TOF the mutations Ala151Ser and Ile157Thr that change non-polar to polar residues at exon 4. Exon 4 encodes part of the highly-conserved tetramerization domain, a structural motif required for ALDH oligomerization. Molecular mechanics simulation studies of the two mutations indicate that they hinder tetramerization. We determined that the SNP rs16939660, previously associated with spina bifida and observed in patients with TOF, does not affect splicing. Moreover, association studies performed with classical models and with the transmission disequilibrium test (TDT design using single marker genotype, or haplotype information do not show differences between cases and controls. Conclusion In summary, our screen indicates that

  4. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2016-11-02

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  5. Application of diffusion maps to identify human factors of self-reported anomalies in aviation.

    Science.gov (United States)

    Andrzejczak, Chris; Karwowski, Waldemar; Mikusinski, Piotr

    2012-01-01

    A study investigating what factors are present leading to pilots submitting voluntary anomaly reports regarding their flight performance was conducted. Diffusion Maps (DM) were selected as the method of choice for performing dimensionality reduction on text records for this study. Diffusion Maps have seen successful use in other domains such as image classification and pattern recognition. High-dimensionality data in the form of narrative text reports from the NASA Aviation Safety Reporting System (ASRS) were clustered and categorized by way of dimensionality reduction. Supervised analyses were performed to create a baseline document clustering system. Dimensionality reduction techniques identified concepts or keywords within records, and allowed the creation of a framework for an unsupervised document classification system. Results from the unsupervised clustering algorithm performed similarly to the supervised methods outlined in the study. The dimensionality reduction was performed on 100 of the most commonly occurring words within 126,000 text records describing commercial aviation incidents. This study demonstrates that unsupervised machine clustering and organization of incident reports is possible based on unbiased inputs. Findings from this study reinforced traditional views on what factors contribute to civil aviation anomalies, however, new associations between previously unrelated factors and conditions were also found.

  6. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

    textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD bi

  7. Basic multisensory functions can be acquired after congenital visual pattern deprivation in humans

    DEFF Research Database (Denmark)

    Putzar, L.; Gondan, Matthias; Röder, B.

    2012-01-01

    People treated for bilateral congenital cataracts offer a model to study the influence of visual deprivation in early infancy on visual and multisensory development. We investigated cross-modal integration capabilities in cataract patients using a simple detection task that provided redundant...

  8. Ebstein anomaly

    Science.gov (United States)

    ... use of certain drugs (such as lithium or benzodiazepines) during pregnancy may play a role. The condition ... Stanton BF, St Geme JW, Schor NF. Cyanotic congenital heart lesions. In: Kliegman RM, Stanton BF, St ...

  9. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  10. Growth anomalies on the coral genera Acropora and Porites are strongly associated with host density and human population size across the Indo-Pacific

    Science.gov (United States)

    Aeby, G.S.; Williams, G.J.; Franklin, E.C.; Haapkyla, J.; Harvell, C.D.; Neale, S.; Page, C.A.; Raymundo, L.; Vargas-Angel, B.; Willis, B.L.; Work, T.M.; Davy, S.K.

    2011-01-01

    Growth anomalies (GAs) are common, tumor-like diseases that can cause significant morbidity and decreased fecundity in the major Indo-Pacific reef-building coral genera, Acropora and Porites. GAs are unusually tractable for testing hypotheses about drivers of coral disease because of their pan-Pacific distributions, relatively high occurrence, and unambiguous ease of identification. We modeled multiple disease-environment associations that may underlie the prevalence of Acropora growth anomalies (AGA) (n = 304 surveys) and Porites growth anomalies (PGA) (n = 602 surveys) from across the Indo-Pacific. Nine predictor variables were modeled, including coral host abundance, human population size, and sea surface temperature and ultra-violet radiation anomalies. Prevalence of both AGAs and PGAs were strongly host density-dependent. PGAs additionally showed strong positive associations with human population size. Although this association has been widely posited, this is one of the first broad-scale studies unambiguously linking a coral disease with human population size. These results emphasize that individual coral diseases can show relatively distinct patterns of association with environmental predictors, even in similar diseases (growth anomalies) found on different host genera (Acropora vs. Porites). As human densities and environmental degradation increase globally, the prevalence of coral diseases like PGAs could increase accordingly, halted only perhaps by declines in host density below thresholds required for disease establishment.

  11. Acromesomelic dysplasia (Marotaeux type associated with craniovertebral junction anomaly: A report of a rare case and review of literature

    Directory of Open Access Journals (Sweden)

    Jayesh C Sardhara

    2014-01-01

    Full Text Available Acromesomelic dysplasia Maroteaux type (AMDM is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified in natriuretic receptor B (NPR-B which has been implicated in the regulation of skeletal growth. Till now, around 40 to 50 cases of AMDM have been described in the world literature. Association of the congenital craniovertebral (CV junction anomaly has not been reported. Here we are presenting a case of AMDM, with CV junction anomaly. A 10-year boy presented with short stature (122 cm with short distal limbs, symptomatic for thoracic kyphoscoliosis with back pain. On examination there were no neurological deficits. On radiological investigation, he was found to have short and broad phalanges and toes, thoracic kyphoscoliosis, abnormal pelvic ring, mild ventriculomegaly, cervical syringomyelia and tonsillar descent below foramen magnum, hydrocephalus, os odontoideum with Klippel-Feil anomaly. This was diagnosed as AMDM with congenital os odontoideum, Klippel-Feil anomaly with Arnold-Chiari malformation (ACM type-1. The patient underwent posterior fossa decompression by removal of foramen magnum ring along with C1 arch for ACM type-1. Kyphosis was left for conservative treatment till further observation and required orthopedic correction in his further age. To the best of our knowledge this is a very rare entity of AMDM with congenital CV junction anomaly.

  12. MRI of central nervous system anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Izawa, M.; Oikawa, A.; Matoba, A.

    1987-05-01

    MRI was very useful in the evaluation of congenital anomalies of central nervous system as well as other nervous system disease with three-dimensional spatial resolution. We had experienced MRI of central nervous system anomalies, demonstrated characterisitic findings in each anomaly. MRI is useful to observe the coronal, horizontal and sagittal images of the brain and spinal cord in order to discuss the etiological mechanisms of spinal dysraphysm and its associated anomalies. In case of spina bifida cystica MRI was available to decide operative indication for radical operation and tetherd cord developed from postoperative scar or accompanied intraspinal lesions.

  13. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

    OpenAIRE

    Schenk, Barbara; Imbach, Timo; Frank, Christian G.; Grubenmann, Claudia E.; Raymond, Gerald V.; Hurvitz, Haggit; Raas-Rotschild, Annick; Luder, Anthony S.; Berger, Eric G.; Matthijs, Gert; Hennet, Thierry; Aebi, Markus; Jaeken, Jaak

    2003-01-01

    Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the molecular basis of a novel type of the disease in three unrelated patients diagnosed with CDG-I. Serum transferrin was hypoglycosylated and patients’ fibroblasts accumulated incomplete lipid-linked...

  14. Genetics and epidemiology, congenital anomalies and cancer

    Energy Technology Data Exchange (ETDEWEB)

    Friedman, J.M. [Univ. of British Columbia, Vancouver (Canada)

    1997-03-01

    Many of the basic statistical methods used in epidemiology - regression, analysis of variance, and estimation of relative risk, for example - originally were developed for the genetic analysis of biometric data. The familiarity that many geneticists have with this methodology has helped geneticists to understand and accept genetic epidemiology as a scientific discipline. It worth noting, however, that most of the work in genetic epidemiology during the past decade has been devoted to linkage and other family studies, rather than to population-based investigations of the type that characterize much of mainstream epidemiology. 30 refs., 2 tabs.

  15. Relationship between fetal congenital heart defects and chromosomal anomalies detected by prenatal ultrasound%产前超声诊断胎儿先天性心脏畸形与染色体异常的关系

    Institute of Scientific and Technical Information of China (English)

    黎新艳; 田晓先; 晁桂华; 韦波

    2012-01-01

    目的 应用超声探讨胎儿先天性心脏畸形与染色体异常的关系.方法 回顾分析我院产前超声检查发现先天性心脏畸形,并行染色体检查的胎儿58例.结果 58例先天性心脏畸形胎儿中复杂畸形39例(67.2%),心内畸形合并心外畸形26例(44.8% );染色体异常16例(27.6%),其中18 -三体综合征9例,21 -三体综合征4例,13 -三体综合征2例,47,XX,+8[16]\\46,XX[44] 1例.结论 不同类型的胎儿先天性心脏畸形与染色体异常的关系不同;当产前超声发现胎儿先天性心脏畸形时,应仔细观察胎儿全身有无畸形及超声软标志,必要时行染色体检查以明确核型.%Objective To explore the relationship between fetal congenital heart defects (CHD)and chromosomal anomalies by ultrasound. Methods Fifty-eight fetuses with CHD and underwent chromosome examination were enrolled in this study, their data were analyzed retrospectively. Results In 58 cases, there were 39 fetuses (67.2% ) of cardiac complicated deformity and 26 fetuses (44.8%) of extra cardiac malformations, 16 fetuses (27.6%) had chromosomal abnormalities including 9 cases of trisomy 18, 4 cases of trisomy 21, 2 cases of trisomy 13, and 1 case of 47, XX,+8 [ 16 ]\\46, XX [ 44 ]. Conclusion Different fetal CHD has different correlation with chromosomal abnormalities. When prenatal ultrasound diagnosis of heart malformations is made, we should check the fetus carefully and perform amniocentesis or umbilical cord blood puncture to confirm the chromosome karyotype when it is necessary.

  16. RFID-Based Human Behavior Modeling and Anomaly Detection for Elderly Care

    Directory of Open Access Journals (Sweden)

    Hui-Huang Hsu

    2010-01-01

    Full Text Available This research aimed at building an intelligent system that can detect abnormal behavior for the elderly at home. Active RFID tags can be deployed at home to help collect daily movement data of the elderly who carries an RFID reader. When the reader detects the signals from the tags, RSSI values that represent signal strength are obtained. The RSSI values are reversely related to the distance between the tags and the reader and they are recorded following the movement of the user. The movement patterns, not the exact locations, of the user are the major concern. With the movement data (RSSI values, the clustering technique is then used to build a personalized model of normal behavior. After the model is built, any incoming datum outside the model can be viewed as abnormal and an alarm can be raised by the system. In this paper, we present the system architecture for RFID data collection and preprocessing, clustering for anomaly detection, and experimental results. The results show that this novel approach is promising.

  17. Computed tomography of common congenital lesions of the temporal bone

    Energy Technology Data Exchange (ETDEWEB)

    Yuen, H.Y. E-mail: drhyyuen@doctors.org.uk; Ahuja, A.T.; Wong, K.T.; Yue, V.; Hasselt, A.C. van

    2003-09-01

    This pictorial review describes the application of high-resolution computed tomography to the investigation and pre-operative work-up of the common lesions of congenital hearing loss, including congenital aural dysplasia, various congenital ossicular anomalies, inner ear dysmorphology, large vestibular aqueduct syndrome, and congenital absence of cochlear nerve and labyrinthitis ossificans from previous infection. The aim is to help radiologists to provide a more accurate diagnosis of underlying aetiology and assist in surgical planning.

  18. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

    McGivern, Mark R.; Best, Kate E.; Rankin, Judith

    2015-01-01

    reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence......INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

  19. Ultrastructural study of the neovagina following the utilization of human amniotic membrane for treatment of congenital absence of the vagina

    Directory of Open Access Journals (Sweden)

    L.F. Bleggi-Torres

    1997-07-01

    Full Text Available We present an ultrastructural study of the utilization of human amniotic membrane in the treatment of congenital absence of the vagina in 10 patients. All patients were surgically treated with application of an amniotic membrane graft using the modified McIndoe and Bannister technique. Sixty days after surgery, samples of the vaginal neo-epithelium were collected for transmission electron microscopy analysis. The ultrastructural findings consisted of a lining of mature squamous epithelium indicating the occurrence of metaplasia of the amniotic epithelium into the vaginal epithelium. The cells were arranged in layers as in the normal vaginal epithelium, i.e., superficial, intermediate and deep layers. There were desmosomes and cytoplasmic intermediate cytokeratin filaments, as well as some remnant features of the previous amniotic epithelium. These findings suggest that human amniotic membrane is able to complete metaplasia into squamous cells but the mechanism of this cellular transformation is unknown

  20. Bifid rib: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Mythili Krishnan Rathinasabapathi

    2015-01-01

    Full Text Available A case of the bifid rib was found during routine bone study. The distal part of the osseous rib bifurcated into two divisions with an angle of 60°. Both divisions had their own costal cartilage. Bifid rib is a congenital abnormality of the rib cage and usually asymptomatic, often discovered incidentally on chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties and neurological limitations.

  1. Anomaly holography

    Energy Technology Data Exchange (ETDEWEB)

    Gripaios, Ben [Rudolf Peierls Centre for Theoretical Physics, University of Oxford, 1 Keble Rd., Oxford OX1 3NP (United Kingdom); Merton College, Oxford OX1 4JD (United Kingdom)], E-mail: b.gripaios1@physics.ox.ac.uk; West, Stephen M. [Rudolf Peierls Centre for Theoretical Physics, University of Oxford, 1 Keble Rd., Oxford OX1 3NP (United Kingdom)], E-mail: s.west1@physics.ox.ac.uk

    2008-01-21

    We consider, in the effective field theory context, anomalies of gauge field theories on a slice of a five-dimensional, anti-de Sitter geometry and their four-dimensional, holographic duals. A consistent effective field theory description can always be found, notwithstanding the presence of the anomalies and without modifying the degrees of freedom of the theory. If anomalies do not vanish, the d=4 theory contains additional pseudoscalar states, which are either present in the low-energy theory as physical, light states, or are eaten by (would-be massless) gauge bosons. We show that the pseudoscalars ensure that global anomalies of the four-dimensional dual satisfy the 't Hooft matching condition and comment on the relevance for warped models of electroweak symmetry breaking.

  2. Craniofacial anomalies in twins.

    Science.gov (United States)

    Keusch, C F; Mulliken, J B; Kaplan, L C

    1991-01-01

    Studies of twins provide insight into the relative contribution of genetic and environmental factors in the causality of structural anomalies. Thirty-five affected twin pairs were identified from a group of 1114 patients with congenital craniofacial deformities evaluated from 1972 to 1989. Forty-three of these 70 twins exhibited one or more craniofacial anomalies; these were analyzed for dysmorphic characteristics, zygosity, concordance, and family history. The anomalies were categorized into two groups: malformations and deformations. The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), cleft palate (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1). The deformations (n = 7) included plagiocephaly (n = 5), hemifacial hypoplasia (n = 1), and micrognathia (n = 1). Twenty-one monozygotic and 14 dizygotic twin pairs were identified. The concordance rate was 33 percent for monozygotic twins and 7 percent for dizygotic twins.(ABSTRACT TRUNCATED AT 250 WORDS)

  3. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  4. Congenital papillomas and papillomatoses associated with the Human Papilloma Virus (HPV: report on 5 cases

    Directory of Open Access Journals (Sweden)

    Eliane Pedra Dias

    Full Text Available The authors present a study of five cases of vulvar congenital papillomas and papillomatoses in stillborns and neonates dead upon birth. The studied material was collected from five necropsies. The histopathological evaluation showed hyperkeratosis, acanthosis, papillomatosis, perinuclear haloes, and nuclear abnormalities. In three of the cases, the electron microscopy identified nuclear and cytoplasmatic viral particles ranging from 40 to 60 nm in size, compatible with HPV. The immunohistochemical study of those lesions showed nuclear and cytoplasmatic positivity. The authors concluded that the presence of viral particles suggestive of HPV added to the immunopositivity indicated the possibility of viral infection.

  5. Basic multisensory functions can be acquired after congenital visual pattern deprivation in humans.

    Science.gov (United States)

    Putzar, Lisa; Gondan, Matthias; Röder, Brigitte

    2012-01-01

    People treated for bilateral congenital cataracts offer a model to study the influence of visual deprivation in early infancy on visual and multisensory development. We investigated cross-modal integration capabilities in cataract patients using a simple detection task that provided redundant information to two different senses. In both patients and controls, redundancy gains were consistent with coactivation models, indicating an integrated processing of modality-specific information. This finding is in contrast with recent studies showing impaired higher-level multisensory interactions in cataract patients. The present results suggest that basic cross-modal integrative processes for simple short stimuli do not depend on visual and/or crossmodal input since birth.

  6. Preferential Associated Anomalies in 818 Cases of Microtia in South America

    Science.gov (United States)

    Luquetti, Daniela V; Cox, Timothy C; Lopez-Camelo, Jorge; Dutra, Maria da Graça; Cunningham, Michael L; Castilla, Eduardo E

    2013-01-01

    The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia. PMID:23554119

  7. Preferential associated anomalies in 818 cases of microtia in South America.

    Science.gov (United States)

    Luquetti, Daniela V; Cox, Timothy C; Lopez-Camelo, Jorge; Dutra, Maria da Graça; Cunningham, Michael L; Castilla, Eduardo E

    2013-05-01

    The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.

  8. Fetal congenital lobar emphysema.

    Science.gov (United States)

    Chia, Chun-Chieh; Huang, Soon-Cen; Liu, Min-Chang; Se, Tung-Yi

    2007-03-01

    To report a rare fetal congenital lung anomaly characterized by over inflation of a pulmonary lobe. A 28-year-old systemic lupus erythematous mother, gravida 1 para 0, who had normal prenatal care in our department, was admitted for labor pain and an abnormal fetal heart location was noted incidentally during labor. The baby showed rib retraction in room air but no obvious cyanotic change after delivery. Both the fetus chest X-ray and ultrasound showed a hyperechogenic tumor in the left thoracic cavity with a right-side-shifted heart and trachea. Computed tomography showed a hypodense and multiseptal tumor in the left thoracic cavity with right-sided shift of the heart and trachea. It was a soft, solid tumor in the parenchyma of the left lung and the histopathology confirmed it to be benign congenital lobar emphysema. The favorable outcome in both asymptomatic and mildly symptomatic children suggests that a nonsurgical approach should be considered for these patients.

  9. FOETAL ULTRASOUND - NEUROECTODERMAL ANOMALIES IN RURAL PREGNANT WOMEN

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    Mala Venkata

    2016-06-01

    Full Text Available BACKGROUND A prospective clinical study to know the various types of congenital Neuroectodermal Anomalies on obstetric Ultrasound, in rural pregnant women. To reduce the maternal morbidity and mortality by early detection of these Congenital Neuroectodermal Anomalies. To calculate the incidence and prevalence of different types of Congenital Neuroectodermal Anomalies, in these rural pregnant women. To assist the obstetrician in taking decisions regarding the termination or continuation of the pregnancy in relation to the type of malformation and its prognosis. METHODS A prospective clinical study of Congenital Neuroectodermal Anomalies in 22,000 rural pregnant women coming to the Santhiram Medical College, Radiology Department for a routine obstetric scan. 44 cases of neuroectodermal anomalies were detected out of the 22000 cases, within an incidence of 2 per 1000 cases. Approximately 1 in every 500 cases showed an anomaly. RESULTS The most common lesions detected were hydrocephalus, and spina bifida followed by anencephaly. Association of these lesions with consanguinity, previous history of similar anomaly and intake of iron and folic acid tablets was noted. CONCLUSION Ultrasound is an excellent modality for the diagnosis and characterisation of the neuroectodermal anomalies. Its multiplanar imaging property along with real time image visualisation make it an excellent tool for the diagnosis and characterisation of these anomalies

  10. Congenital Diaphragmatic Hernia

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    Tovar Juan A

    2012-01-01

    Full Text Available Abstract Congenital Diaphragmatic Hernia (CDH is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is

  11. A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis

    OpenAIRE

    Çelik, Yalçın; Hallıoğlu, Olgu; Basut, Nursel; Demetgül, Hasan; Esin Kibar, A.

    2015-01-01

    Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5–7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, righ...

  12. Association between chemical pattern in breast milk and congenital cryptorchidism: modelling of complex human exposures

    DEFF Research Database (Denmark)

    Krysiak-Baltyn, Konrad; Toppari, J.; Skakkebaek, N. E.;

    2012-01-01

    in 130 breast milk samples from Danish and Finnish mothers. Half the newborns were healthy controls, whereas the other half was boys with congenital cryptorchidism. The measured chemicals included polychlorinated biphenyls (PCBs), polybrominated diphenyl‐ethers, dioxins (OCDD/PCDFs), phthalates...... for multiple testing, exposure to nine chemicals was significantly different between the cases and controls in the Danish cohort, but not in the Finnish cohort. The multivariate analysis indicated that Danish samples exhibited a stronger correlation between chemical exposure patterns in breast milk...... and cryptorchidism than Finnish samples. Moreover, PCBs were indicated as having a protective effect within the Danish cohort, which was supported by molecular data recovered through systems biology. Our results lend further support to the hypothesis that the mixture of environmental chemicals may contribute...

  13. Congenital blindness affects diencephalic but not mesencephalic structures in the human brain

    DEFF Research Database (Denmark)

    Cecchetti, Luca; Ricciardi, Emiliano; Handjaras, Giacomo

    2015-01-01

    While there is ample evidence that the structure and function of visual cortical areas are affected by early visual deprivation, little is known of how early blindness modifies subcortical relay and association thalamic nuclei, as well as mesencephalic structures. Therefore, in the present...... multicenter study, we used MRI to measure volume of the superior and inferior colliculi, as well as of the thalamic nuclei relaying sensory and motor information to the neocortex, parcellated according to atlas-based thalamo-cortical connections, in 29 individuals with congenital blindness of peripheral...... origin (17 M, age 35.7 ± 14.3 years) and 29 sighted subjects (17 M, age 31.9 ± 9.0). Blind participants showed an overall volume reduction in the left (p = 0.008) and right (p = 0.007) thalami, as compared to the sighted individuals. Specifically, the lateral geniculate (i.e., primary visual thalamic...

  14. Prevalence of Congenital Heart Diseases in Children with Congenital Hypothyroidism

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    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

    Full Text Available The aim of the work was to assess the prevalence of cardiac anomalies in primary congenital hypothyroidism (PCH patients. Fifty patients with PCH recruited after diagnosis by ultrasonography or scintigraphy (64% Dysgenesis, 36% Dyshormonogenesis. The prevalence of cardiac anomalies was 18%, with renal anomalies being 8%. There was no significant difference in the longitudinal follow-up of growth and sexual maturation between a hypothyroid with and without anomalies. Statistically significant difference was found with replacement therapy of both groups. Hence, echocardiography should be done to screen this birth defect as soon as possible so as to prevent or delay the possible complications. [Arch Clin Exp Surg 2013; 2(2.000: 85-91

  15. Congenital Lumbar Hernia with Lumbocostovertebral Syndrome: A Case Report and Review of the Literature

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    Ketan Vagholkar

    2013-01-01

    Full Text Available Introduction. Congenital lumbar hernia is one of the rare types of hernias. Anomalies of the ribs, spine, and muscles which constitute the lumbocostovertebral syndrome in association with congenital lumbar hernia make it the rarest of entities. In addition, a multitude of other organ systems may be involved. Case Report. A case of congenital lumbar hernia associated with lumbocostovertebral syndrome is presented in view of its rarity and diagnostic and therapeutic challenges. Discussion. Anatomical background of congenital lumbar hernia associated with various other anomalies especially of the musculoskeletal structures is discussed. All cases of congenital lumbar hernia should be investigated for other congenital anomalies. Both open and laparoscopic approaches have been described for surgical treatment. Conclusion. Open surgical intervention is the mainstay of treatment taking into consideration the technical challenges posed by distorted anatomy due to the associated congenital anomalies.

  16. Congenitally corrected transposition

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    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  17. Nutritional Approach of Pediatric Patients Diagnosed with Congenital Heart Disease

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    Togănel Rodica

    2013-04-01

    Full Text Available Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.

  18. Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle.

    Science.gov (United States)

    Sevdali, Maria; Kumar, Vikash; Peckham, Michelle; Sparrow, John

    2013-03-01

    Over 190 mutations in the human skeletal muscle α-actin gene, ACTA1 cause congenital actin myopathies. We transgenically expressed six different mutant actins, G15R, I136M, D154N, V163L, V163M and D292V in Drosophila indirect flight muscles and investigated their effects in flies that express one wild type and one mutant actin copy. All the flies were flightless, and the IFMs showed incomplete Z-discs, disorganised actin filaments and 'zebra bodies'. No differences in levels of sarcomeric protein expression were observed, but tropomodulin staining was somewhat disrupted in D164N, V163L, G15R and V163M heterozygotes. A single copy of D292V mutant actin rescued the hypercontractile phenotypes caused by TnI and TnT mutants, suggesting that the D292V mutation interferes with thin filament regulation. Our results show that expression of actin mutations homologous to those in humans in the indirect flight muscles of Drosophila disrupt sarcomere organisation, with somewhat similar phenotypes to those observed in humans. Using Drosophila to study actin mutations may help aid our understanding of congential myopathies caused by actin mutations.

  19. Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.

    Science.gov (United States)

    Pawlyk, Basil S; Bulgakov, Oleg V; Liu, Xiaoqing; Xu, Xiaoyun; Adamian, Michael; Sun, Xun; Khani, Shahrokh C; Berson, Eliot L; Sandberg, Michael A; Li, Tiansen

    2010-08-01

    RPGR-interacting protein-1 (RPGRIP1) is localized in the photoreceptor-connecting cilium, where it anchors the RPGR (retinitis pigmentosa GTPase regulator) protein, and its function is essential for photoreceptor maintenance. Genetic defect in RPGRIP1 is a known cause of Leber congenital amaurosis (LCA), a severe, early-onset form of retinal degeneration. We evaluated the efficacy of replacement gene therapy in a murine model of LCA carrying a targeted disruption of RPGRIP1. The replacement construct, packaged in an adeno-associated virus serotype 8 (AAV8) vector, used a rhodopsin kinase gene promoter to drive RPGRIP1 expression. Both promoter and transgene were of human origin. After subretinal delivery of the replacement gene in the mutant mice, human RPGRIP1 was expressed specifically in photoreceptors, localized correctly in the connecting cilia, and restored the normal localization of RPGR. Electroretinogram and histological examinations showed better preservation of rod and cone photoreceptor function and improved photoreceptor survival in the treated eyes. This study demonstrates the efficacy of human gene replacement therapy and validates a gene therapy design for future clinical trials in patients afflicted with this condition. Our results also have therapeutic implications for other forms of retinal degenerations attributable to a ciliary defect.

  20. Situs anomalies on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Brugger, Peter C; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-04-01

    Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  1. Associated anomalies in cases with anotia and microtia.

    Science.gov (United States)

    Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

    2016-12-01

    Infants with anotia and microtia (AM) often have other non-AM associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in infants with AM were collected in all livebirths, stillbirths and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 146 cases with AM registered during this period, representing a prevalence of 3.77 per 10,000, 49.3% had associated anomalies. There were 14 (9.6%) cases with chromosomal abnormalities including 5 trisomies 18, and 18 (12.3%) nonchromosomal recognized dysmorphic conditions including 6 cases with oculo-auriculo-vertebral spectrum. However, numerous other recognized dysmorphic conditions were registered. Forty (27.4%) of the cases had multiple congenital anomalies (MCA). Anomalies especially in the cardiovascular, the musculoskeletal, the urogenital, the central nervous, and the digestive systems, and facial clefts were the most common other anomalies. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was one in every two cases, emphasizes the need for a thorough investigation of cases with AM. A routine screening for other anomalies may be considered in infants and in fetuses with AM.

  2. Congenital Bilateral Saccular Cysts and Bifid Epiglottis: Presentation and Management.

    Science.gov (United States)

    Arif, Rawan; Al-Khatib, Talal; Daghistani, Razan; Shalabi, Maher

    2016-03-01

    Saccular disorders are rare representing only 1.5 % of all laryngeal anomalies. Bifid epiglottis is also an extremely rare congenital anomaly that usually occurs in a syndromic picture in association with other anomalies such as polydactyly, cleft palate and micrognathia, which are seen in Pallister-Hall Syndrome and rarely with other syndromes. We report a case of bilateral saccular cysts and bifid epiglottis in a full term neonate presenting with stridor. The patient's other congenital anomalies included microretrognathia, short neck, polydactyly of four extremities and hypospadias. The patient underwent staged endoscopic microsurgical marsupialization of both cysts and endoscopic repair of the bifid epiglottis.

  3. MR imaging of paediatric uterovaginal anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Lang, I.M.; Babyn, P. [Hospital for Sick Children, Toronto, ON (Canada). Dept. of Diagnostic Imaging; Oliver, G.D. [Hospital for Sick Children, Toronto, ON (Canada). Dept. of Gynaecology

    1999-03-01

    Background. Transabdominal ultrasound (US) has not proved completely reliable in Muellerian duct anomalies. One study has shown it useful in obstructed uterovaginal anomalies. We are unaware of a study that has used endovaginal ultrasound in children to investigate uterovaginal anomalies. Magnetic resonance imaging (MRI) is now gaining wide acceptance in imaging congenital abnormalities of the genital tract. Objective. To identify the problems and potential pitfalls of using MRI to evaluate the female genital tract in paediatric patients. Materials and methods. A retrospective review of the MRI scans of 19 patients, aged 3 months to 19 years (mean 14 years), with uterovaginal anomalies. Results. The uterovaginal anomalies were categorised into three groups: (1) congenital absence of the Muellerian ducts, or the Mayer-Rokitansky-Kuster-Hauser syndrome (n = 7), (2) disorders of vertical fusion (n = 2) and (3) disorders of lateral fusion (n = 10). Conclusions. MRI is a reliable method for evaluating paediatric uterovaginal anomalies, but should be analysed in conjunction with other imaging modalities (US and genitography). Previous surgery makes interpretation more difficult and, if possible, MRI should be carried out prior to any surgery. An accurate MRI examination can be extremely helpful prior to surgery and it is important for the radiologist to have knowledge of how these complex anomalies are managed and what pitfalls to avoid. (orig.) With 7 figs., 4 tabs., 24 refs.

  4. A study of dental anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Sook; Kim, Jae Duck [Dept. of Oral Radiology, College of Dentistry, Chosun University, Kwangju (Korea, Republic of)

    1993-08-15

    The purpose of this study was to find out the prevalence of dental anomalies in 600 normal persons (male:363, female:237) at age 14 to 39 years, through history taking, oral examination, and radiographic observations of subjects. The obtained results were as follows: 1. The prevalence of individual dental anomalies were as follows; Congenitally missing teeth 7%; supernumerary teeth 1.33%; ectopic eruption 8.50%; transposition 0.33%; rotation 23.67%; microdontia 11.16% (peg lateral is 5.33%; third molar 5.83%); prolonged retention of deciduous teeth 1.33%; crowding 49.83%; and spacing 15.17%. 2. Alterations in numbers of teeth : The most frequently missing teeth were mandibular lateral incisors, followed by mandibular second premolars and maxillary second premolars. In numbers of congenitally missing teeth per person, 52.38% had one missing tooth and 30.95% had two missing teeth. In supernumerary teeth, there was higher rate in male than in female. Most supernumerary teeth were mesiodens of median area in maxilla and the eruption pattern of that teeth generally was unerupted state. 3. In transposition, exchange of position of teeth involved the canine and first premolar. 4. Congenital missing rate of permanent successors in prolonged retention of deciduous teeth was 69.23%. 5. Crowding and spacing had respectively higher rate in mandible and in maxilla.

  5. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

    Science.gov (United States)

    Schenk, Barbara; Imbach, Timo; Frank, Christian G.; Grubenmann, Claudia E.; Raymond, Gerald V.; Hurvitz, Haggit; Raas-Rotschild, Annick; Luder, Anthony S.; Jaeken, Jaak; Berger, Eric G.; Matthijs, Gert; Hennet, Thierry; Aebi, Markus

    2001-01-01

    Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the molecular basis of a novel type of the disease in three unrelated patients diagnosed with CDG-I. Serum transferrin was hypoglycosylated and patients’ fibroblasts accumulated incomplete lipid-linked oligosaccharide precursors for N-linked protein glycosylation. Transfer of incomplete oligosaccharides to protein was detected. Sequence analysis of the Lec35/MPDU1 gene, known to be involved in the use of dolichylphosphomannose and dolichylphosphoglucose, revealed mutations in all three patients. Retroviral-based expression of the normal Lec35 cDNA in primary fibroblasts of patients restored normal lipid-linked oligosaccharide biosynthesis. We concluded that mutations in the Lec35/MPDU1 gene cause CDG. This novel type was termed CDG-If. PMID:11733564

  6. Human giant congenital melanocytic nevus exhibits potential proteomic alterations leading to melanotumorigenesis

    Directory of Open Access Journals (Sweden)

    Kim Hyoung Kyu

    2012-08-01

    Full Text Available Abstract Background A giant congenital melanocytic nevus (GCMN is a malformation of the pigment cells. It is a distress to the patients for two reasons: one is disfigurement, and the other is the possibility of malignant changes. However, the underlying mechanisms of the development of GCMN and melanotumorigenesis in GCMN are unknown. Hence, the aim of this study was to identify the proteomic alterations and associated functional pathways in GCMN. Results Proteomic differences between GCMN (n = 3 and normal skin samples (n = 3 were analyzed by one-dimensional-liquid chromatography-tandem mass spectrometry Relative levels of the selected proteins were validated using western blot analysis. The biological processes associated with the abundance modified proteins were analyzed using bioinformatic tools. Among the 46 abundance modified proteins, expression of 4 proteins was significantly downregulated and expression of 42 proteins was significantly upregulated in GCMN compared to normal skin samples (p  Conclusion These findings suggest that GCMN exhibits potential proteomic alterations, which may play a role in melanotumorigenesis, and the significant alteration of 14-3-3 family proteins could be a key regulator of the biological pathway remodeling in GCMN.

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

    Science.gov (United States)

    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; Louw, Jacoba; 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

    2014-04-01

    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 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2, a very significant enrichment (p = 7.7 × 10(-7)) compared to 5,194 control subjects. We identified three additional CHD-affected families with other variants in NR2F2 including a de novo balanced chromosomal translocation, a de novo substitution disrupting a splice donor site, and a 3 bp duplication that cosegregated in a multiplex family. NR2F2 encodes a pleiotropic developmental transcription factor, and decreased dosage of NR2F2 in mice has been shown to result in abnormal development of atrioventricular septa. Via luciferase assays, we showed that all six coding sequence variants observed in individuals significantly alter the activity of NR2F2 on target promoters.

  8. Microencephaly in children congenitally infected with human immunodeficiency virus--a gross-anatomical morphometric study.

    Science.gov (United States)

    Kozlowski, P B; Brudkowska, J; Kraszpulski, M; Sersen, E A; Wrzolek, M A; Anzil, A P; Rao, C; Wisniewski, H M

    1997-02-01

    A quantitative technique involving serial sectioning and semiautomatic morphometric analysis was used to assess the severity of the reduction in size of the major brain structures in cerebral hemispheres of children congenitally infected with HIV-1. Cerebral hemispheres from 12 children (18-48 months of age) who died of AIDS were sectioned into 5-mm-thick serial slabs and photographed. The cross-sectional areas of grossly recognizable brain structures were digitized, and the volumes were calculated according to Cavalieri's principle. The results were compared with those of an identically processed group of control brains from non-AIDS children. Analysis of the brain weight showed that there was a significant reduction in supratentorial and infratentorial weight in the AIDS group. The results of the morphometric study revealed that the loss in brain mass was associated with a statistically significant reduction in the total volume of both hemispheres, the entire cortex, white matter, and basal ganglia. Detailed analysis of individual brain structures also showed a significant reduction in volume of all cortical regions and most of the subcortical gray matter (e.g., caudate nucleus, putamen, globus pallidus, claustrum, and thalamus). It appears that in the microencephaly observed as a frequent sequel in pediatric AIDS, the loss of brain tissue is global and includes an almost proportional loss of cortex, subcortical gray matter and white matter.

  9. CONGENITAL RADIAL DYSPLASIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Venkatram Reddy

    2015-08-01

    Full Text Available Congenital radial dysplasia, also referred to as radial club hand , means deficiency along the preaxial or radial side of the extremity. It ranges from hypoplasia of the thumb to variou s degrees of radial hypoplasia. We present one such rare case of type 4 congenital unilateral isolated radial dysplasia with carpel anomaly , reported to our department in SVS medical C ollege, Mahabubanagar, Telangana state

  10. Congenital absence of uterine cervix

    Directory of Open Access Journals (Sweden)

    Selvaraj Ravi Lakshmy

    2016-10-01

    Full Text Available Cervical agenesis or dysgenesis is an extremely rare congenital anomaly. Patients with congenital absence of the cervix present with primary amenorrhea and infertility. Though it poses a diagnostic challenge to the clinician, correct diagnosis prior to surgery is possible with the help of ultrasound. Early diagnosis offers significant advantages in patient care and effective presurgical planning. This case report reviews two cases of cervical agenesis diagnosed with the help of ultrasound and later confirmed with the help of MRI. Ultrasonography is the modality of choice to define the internal genital anatomy and helps us to classify the level of obstruction or aplasia in obstructive uterine anomalies. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3634-3636

  11. Congenital Absence of the Pericardium.

    Science.gov (United States)

    Lopez, David; Asher, Craig R

    Congenital absence of the pericardium (CAP) is one of the rarest cardiac congenital anomalies. It can occur as a complete absence of the entire pericardium, absence of the right or left portion of the pericardium or a partial, foramen-like defect of the right or left pericardium. While the majority of cases are clinically silent, multiple reports associate CAP with symptomatic presentation. The most feared complication of CAP is sudden death due to cardiac strangulation across a partial defect of the left pericardium. Given its rare occurrence, most clinicians and imaging specialists will have little experience with this condition and may fail to recognize it on thoracic or cardiac studies. Thus, the purpose of this review is to highlight the common clinical and multimodality imaging features associated with this anomaly and suggest a management algorithm. Copyright © 2016. Published by Elsevier Inc.

  12. [Congenital thrombophilia].

    Science.gov (United States)

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  13. Congenital Myopathy

    Science.gov (United States)

    ... evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline ...

  14. Congenital syphilis

    Science.gov (United States)

    Congenital syphilis is caused by the bacteria Treponema pallidum , which is passed from mother to child during fetal development or at birth. Nearly half of all children infected with syphilis while they ...

  15. Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

    Directory of Open Access Journals (Sweden)

    Diana Bancin

    2016-07-01

    Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

  16. Developmental anomalies of the scapula-the "omo"st forgotten bone.

    Science.gov (United States)

    Williams, Marc S

    2003-08-01

    Congenital malformations of the scapula, ranging from complete absence, to abnormal shape and position (Sprengel anomaly) are encountered, not infrequently, in genetic practice. Despite this, little is known of the embryologic origin of the scapula and the relationship of the embryology to the observed birth defects. Standard embryology texts, when discussing the subject at all, generally consider the scapula as part of the upper limb. The pattern of associated birth defects suggests that this is at least an oversimplification and may be inaccurate. Sprengel anomaly is the most frequently encountered malformation of the scapula. It can be seen in isolation, but is often seen in association with other defects that include; scoliosis, hemivertebrae, segmentation abnormalities of vertebrae and ribs (including Klippel-Feil sequence), spina bifida, clavicular abnormalities, renal abnormalities and hypoplasia of the muscles of the neck and shoulder. The ipsilateral limb is usually normal. An unappreciated association between Sprengel anomaly and diastematomyelia of the lumbar spine also raises questions about the embryologic origin of the scapula. 25-50% of Sprengel anomaly patients have an associated omovertebral band or bone that arises from the posterior process of a vertebral body and attaches to the superior angle/medial portion of the scapula. This is felt to be of scapular origin, but the report of at least one patient with an omovertebral bone, not associated with a Sprengel anomaly questions this assumption. Scapuloiliac dysostosis (Kosenow syndrome), a rare skeletal dysplasia, is associated with marked hypoplasia of the scapulae, clavicles and pelvis. Associated anomalies include eye anomalies, rib anomalies and spina bifida. The limbs are normal. Knockout of the Emx2 gene in mice yields a similar skeletal phenotype. Mutations in EMX2 in humans are associated with schizencephaly, not skeletal anomalies. Data on gene expression in the scapula will be reviewed

  17. Congenital Erythropoietic Porphyria (CEP)

    Science.gov (United States)

    ... gov Website: http://www2.niddk.nih.gov/ References JOURNAL ARTICLES Christiansen AL, Aagaard L, Krag A, Rasmussen ... homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic ... a Doctor Clinical Studies Porphyria featured Television and Other Media AIP ...

  18. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  19. Syngnathia-congenital unilateral bony fusion of the maxilla and mandible

    Directory of Open Access Journals (Sweden)

    G V Ramachandra Reddy

    2008-01-01

    Full Text Available Congenital disorders involving orofacial region represents approximately 20% of all birth defects. Out of these disorders, congenital bony fusion of the maxilla and mandible (syngnathia is rare. Usually syngnathia is associated with other anomalies and syndromes. This case report presents a unilateral fusion of maxilla and mandible with no other anomalies.

  20. Double congenital patella: case report and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Visconti, D. [Servizio di Radiologia Ospedale Cavalese Trento, Via Dossi 17, I-38 033 Cavalese (Italy); Della Sala, S.W. [U. O. di Radiologia, Sezione TAC RM, Ospedale S. Chiara, I-38100 Trento (Italy); Bianchini, G. [A. O. di Ortopedia e Traumatologia, Ospedale Cles, I-38023 Trento (Italy); Manera, V. [U. O. di Radiologia, Sezione TAC RM, Ospedale S. Chiara, I-38100 Trento (Italy)

    1996-08-01

    The authors report a case of double congenital patella, which is a rare finding. This anomaly was studied using radiography, CT and MR. Magnetic resonance imaging has enabled us to make an accurate anatomical evaluation of the double congenital patella. (orig.). With 5 figs., 2 tabs.

  1. Congenital medium sternal cleft with partial ectopia cordis repair.

    Science.gov (United States)

    Sousa, Paulo Rego; Antunes, Sónia; Couto, Alexandra; Santos, Gonçalo Cassiano; Leal, Luis Gagp; Magalhães, Manuel Pedro

    2009-01-01

    Congenital sternal malformation is a rare anomaly often diagnosed as an asymptomatic condition at birth. The authors report a clinical case of a full-term female neonate with congenital sternal cleft and partial ectopia cordis. Successful surgical repair was accomplished at 6 days of age. When surgery is performed shortly after birth, the procedure is easier and better results are achieved.

  2. Evaluation of an Infant with Cholestasis and Congenital Hypopituitarism

    Directory of Open Access Journals (Sweden)

    Wahhaj Beg

    2017-10-01

    Full Text Available We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.

  3. You are never too old for a congenital disease!

    Directory of Open Access Journals (Sweden)

    Mukul Khanna

    2013-12-01

    Full Text Available Congenital diseases are sometimes overlooked by physicians because of their rarity or because of late onset of symptoms, which may delay treatment plans. This is illustrated in our patient who presented with dysphagia along with chest pain and who was found to have a congenital vascular anomaly, detected in her fifth decade of life.

  4. Congenital Diaphragmatic Hernia with Familial Occurrence in a Taiwanese Pedigree

    Directory of Open Access Journals (Sweden)

    Dah-Ching Ding

    2005-10-01

    Full Text Available Congenital diaphragmatic hernia (CDH is a developmental defect that accounts for 8% of all major congenital anomalies and is associated with a high mortality rate despite optimal postnatal treatment. Its etiology is uncertain. We report a case of familial CDH in a Taiwanese family. We believe autosomal recessive inheritance is the possible genetic etiology of CDH in this family.

  5. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft;

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  6. Plasticity of the human visual system after retinal gene therapy in patients with Leber’s congenital amaurosis

    Science.gov (United States)

    Ashtari, Manzar; Zhang, Hui; Cook, Philip A.; Cyckowski, Laura L.; Shindler, Kenneth S.; Marshall, Kathleen A.; Aravand, Puya; Vossough, Arastoo; Gee, James C.; Maguire, Albert M.; Baker, Chris I.; Bennett, Jean

    2015-01-01

    Much of our knowledge of the mechanisms underlying plasticity in the visual cortex in response to visual impairment, vision restoration, and environmental interactions comes from animal studies. We evaluated human brain plasticity in a group of patients with Leber’s congenital amaurosis (LCA), who regained vision through gene therapy. Using non-invasive multimodal neuroimaging methods, we demonstrated that reversing blindness with gene therapy promoted long-term structural plasticity in the visual pathways emanating from the treated retina of LCA patients. The data revealed improvements and normalization along the visual fibers corresponding to the site of retinal injection of the gene therapy vector carrying the therapeutic gene in the treated eye compared to the visual pathway for the untreated eye of LCA patients. After gene therapy, the primary visual pathways (for example, geniculostriate fibers) in the treated retina were similar to those of sighted control subjects, whereas the primary visual pathways of the untreated retina continued to deteriorate. Our results suggest that visual experience, enhanced by gene therapy, may be responsible for the reorganization and maturation of synaptic connectivity in the visual pathways of the treated eye in LCA patients. The interactions between the eye and the brain enabled improved and sustained long-term visual function in patients with LCA after gene therapy. PMID:26180100

  7. Amniotic fluid deficiency and congenital abnormalities both influence fluctuating asymmetry in developing limbs of human deceased fetuses.

    Directory of Open Access Journals (Sweden)

    Clara Mariquita Antoinette ten Broek

    Full Text Available Fluctuating asymmetry (FA, as an indirect measure of developmental instability (DI, has been intensively studied for associations with stress and fitness. Patterns, however, appear heterogeneous and the underlying causes remain largely unknown. One aspect that has received relatively little attention in the literature is the consequence of direct mechanical effects on asymmetries. The crucial prerequisite for FA to reflect DI is that environmental conditions on both sides should be identical. This condition may be violated during early human development if amniotic fluid volume is deficient, as the resulting mechanical pressures may increase asymmetries. Indeed, we showed that limb bones of deceased human fetuses exhibited increased asymmetry, when there was not sufficient amniotic fluid (and, thus, space in the uterine cavity. As amniotic fluid deficiency is known to cause substantial asymmetries and abnormal limb development, these subtle asymmetries are probably at least in part caused by the mechanical pressures. On the other hand, deficiencies in amniotic fluid volume are known to be associated with other congenital abnormalities that may disturb DI. More specifically, urogenital abnormalities can directly affect/reduce amniotic fluid volume. We disentangled the direct mechanical effects on FA from the indirect effects of urogenital abnormalities, the latter presumably representing DI. We discovered that both factors contributed significantly to the increase in FA. However, the direct mechanical effect of uterine pressure, albeit statistically significant, appeared less important than the effects of urogenital abnormalities, with an effect size only two-third as large. We, thus, conclude that correcting for the relevant direct factors allowed for a representative test of the association between DI and stress, and confirmed that fetuses form a suitable model system to increase our understanding in patterns of FA and symmetry development.

  8. Pathological changes in acute experimental toxoplasmosis with Toxoplasma gondii strains obtained from human cases of congenital disease.

    Science.gov (United States)

    Pinheiro, Breno Veloso; Noviello, Maria de Lourdes Meirelles; Cunha, Mariana Maciel; Tavares, Alice Thomaz; Carneiro, Ana Carolina Aguiar Vasconcelos; Arantes, Rosa Maria Esteves; Vitor, Ricardo Wagner Almeida

    2015-09-01

    There is a lack of studies using Toxoplasma gondii strains isolated from human patients. Here, we present a pathological study of three strains obtained from human cases of congenital toxoplasmosis in Brazil using inbred mice after oral infection with 10 tissue cysts. Multiplex-nested PCR-RFLP of eleven loci revealed atypical genotypes commonly found in Brazil: toxodb #8 for TgCTBr5 and TgCTBr16 strains and toxodb #11 for the TgCTBr9 strain. BALB/c and C57BL/6 mice were evaluated for survival and histological changes during the acute phase of the disease. All mice inoculated with the non-virulent TgCTBR5 strain survived after 30 days, although irreversible tissue damage was found. In contrast, no mice were resistant to infection with the highly virulent TgCTBR9 strain. The TgCTBr16 strain resulted in 80% survival in mice. However, this strain presented low infectivity, especially by the oral route of infection. Despite being identified with the same genotype, TgCTBr5 and TgCTBr16 strains showed biological differences. Histopathologic analysis revealed liver and lungs to be the most affected organs, and the pattern of tissue injury was similar to that found in mice inoculated perorally with strains belonging to clonal genotypes. However, there was a variation in the intensity of ileum lesions according to T. gondii strain and mouse lineage. C57BL/6 mice showed higher susceptibility than BALB/c for histological lesions. Taken together, these results revealed that the pathogenesis of T. gondii strains belonging to atypical genotypes can induce similar tissue damage to those from clonal genotypes, although intrinsic aspects of the strains seem critical to the induction of ileitis in the infected host.

  9. A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts

    Science.gov (United States)

    Dang, Feng-Tao; Yang, Fa-Yu; Yang, Ye-Qin; Ge, Xiang-Lian; Chen, Ding; Zhang, Liu; Yu, Xin-Ping; Gu, Feng; Zhu, Yi-Hua

    2016-01-01

    AIM To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation. METHODS Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by polymerase chain reaction (PCR) of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for connexin 50 (Cx50), were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy. RESULTS Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by PCR of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for Cx50, were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy. CONCLUSION This study has identified a novel cataract mutation in GJA8, which adds a novel mutation to the existing spectrum of Cx50 mutations with cataract. The molecular consequences of p.F32I mutation in GJA8 exclude instability and the mislocalization of mutant Cx50 protein. PMID:27990357

  10. Tracheomalacia - congenital

    Science.gov (United States)

    ... Geme III JW, Schor NF, Stanton BF, eds. Nelson Textbook of Pediatrics . 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 381. Nelson M, Green G, Ohye RG. Pediatric tracheal anomalies. In: Flint PW, Haughey BH, Lund ...

  11. Abnormal facial appearance and delayed diagnosis of congenital hearing loss.

    Science.gov (United States)

    Crysdale, W S

    1978-08-01

    Congenital hearing loss occurs in association with cranio-facial anomalies. Lay people and health professionals as well frequently regard individuals with cranio-facial anomalies as "stupid" or of lower than normal intelligence because of their odd appearance. Two case reports illustrate that this erroneous assumption will result in the delayed detection of significant hearing loss.

  12. Congenital Agenesis of the Left Lung: A Rare Case

    Directory of Open Access Journals (Sweden)

    Tülin Durgun Yetim

    2011-01-01

    Full Text Available Pulmonary agenesis is a rare congenital anomaly, the etiology of which is not clearly known. Other systemic comorbidities such as cardiovascular, gastrointestinal, musculoskeletal, and urogenital system anomalies can be observed in more than half of the patients. It is usually diagnosed during childhood. Diagnosis in adulthood is very rare. We present a case of pulmonary agenesis diagnosed in an adult.

  13. South African congenital disorders data, 2006 - 2014

    African Journals Online (AJOL)

    Network of Congenital Anomalies, collate relevant data to determine ... the surveillance system implemented by the NDoH from 2006 to. 2014. ... School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine, University of ... ses) while laboratory or other investigations ... Not recorded.

  14. [Congenital epulis].

    Science.gov (United States)

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  15. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap."

  16. Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts

    Science.gov (United States)

    Ge, Xiang-Lian; Zhang, Yilan; Wu, Yaming; Lv, Jineng; Zhang, Wei; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-02-01

    Hereditary cataracts are clinically and genetically heterogeneous lens diseases that cause a significant proportion of visual impairment and blindness in children. Human cataracts have been linked with mutations in two genes, GJA3 and GJA8, respectively. To identify the causative mutation in a family with hereditary cataracts, family members were screened for mutations by PCR for both genes. Sequencing the coding regions of GJA8, coding for connexin 50, revealed a C > A transversion at nucleotide 264, which caused p.P88T mutation. To dissect the molecular consequences of this mutation, plasmids carrying wild-type and mutant mouse ORFs of Gja8 were generated and ectopically expressed in HEK293 cells and human lens epithelial cells, respectively. The recombinant proteins were assessed by confocal microscopy and Western blotting. The results demonstrate that the molecular consequences of the p.P88T mutation in GJA8 include changes in connexin 50 protein localization patterns, accumulation of mutant protein, and increased cell growth.

  17. Enabling research with human embryonic and fetal tissue resources

    Science.gov (United States)

    Gerrelli, Dianne; Lisgo, Steven; Copp, Andrew J.; Lindsay, Susan

    2015-01-01

    Summary Congenital anomalies are a significant burden on human health. Understanding the developmental origins of such anomalies is key to developing potential therapies. The Human Developmental Biology Resource (HDBR), based in London and Newcastle UK, was established to provide embryonic and fetal material for a variety of human studies ranging from single gene expression analysis to large scale genomic/transcriptomic studies. Increasingly HDBR material is enabling the derivation of stem cell lines and contributing towards developments in tissue engineering. Use of the HDBR and other fetal tissue resources discussed here will contribute to the long term aims of understanding the causation and pathogenesis of congenital anomalies, and developing new methods for their treatment and prevention. PMID:26395135

  18. Combination of congenital cleft lip and palate with congenital diaphragmatic hernia: a severe disease course

    Institute of Scientific and Technical Information of China (English)

    LI Yang; XIONG Wan-lin; SHI Bing

    2006-01-01

    @@ Congenital cleft lip and palate (CLP) is the most common birth defect now in China. The incidence is 1.62‰ according to the data (1988-1992) provided by the National Center for Birth Defects Monitoring.1 It is also one of the congenital anomalies that have excellent prognosis. But severe complications may occur in the cases accompanied some other deformities. Here we report a case of death caused by left-sided posterolateral congenital diaphragmatic hernia (CDH), type Bochdalek, after the cleft operation.

  19. Lung bud anomalies: Radiologic findings in 30 patients

    Energy Technology Data Exchange (ETDEWEB)

    Son, Kyung Myung; Yang, Hae Ryoun; Jeon, Jeong Su; Kim, Ok Hwa; Kim, Choon Yul; Bahk, Yong Whee [Catholic University Medical College, Seoul (Korea, Republic of)

    1990-10-15

    Bronchogenic cyst, pulmonary sequestration, congenital cystic adenomatoid malformation and congenital lobar emphysema are four major congenital cystic pulmonary diseases that represent a spectrum of closely related anomalies arising at early stage of embryonic lung bud maturation. Most of them present with recurrent pulmonary infections or chest pain since childhood and usually the diagnosis is made at this age. Sometimes the lesions are silent and found at adult age. We retrospectively analyzed the pain chest radiograms of 30 patients with a lung bud anomaly. The diagnosis was established by surgery and biopsy, but bronchography, computed tomography and ultrasonography aided in the diagnosis, seventeen bronchogenic cysts, 8 pulmonary sequestrations, 2 congenital cystic adenomatoid malformations, 2 congenital lobar emphysema and 1 congenital bronchial stenosis are included in this study. Nine out of 13 intrapulmonary bronchogenic cysts involved the lower lobes: thin-walled cysts with or without air-fluid level were the characteristic chest roentgenographic finding. However, mediastinal bronchogenic cysts showed well-marginated mass. The pulmonary sequestration showed similar cysts mass with or without air-fluid levels in five out of eight patients, but the cyst wall was not so sharply defined as in the bronchogenic cyst. In two patients of congenital cystic adenomatoid malformation, a large thin-walled cyst with air fluid level was noted and differentiation from intrapulmonary bronchogenic cyst was difficult both by chest roentgenogram and computed tomography. Two patients of congenital lobar emphysema and one patient of bronchial stenosis showed unilateral hyperlucent lung without discrete cystic mass formation.

  20. An unreported type of coronary artery naomaly in congenitally corrected transposition of great arteries

    Energy Technology Data Exchange (ETDEWEB)

    Kwak, Min Kyu; Jeong, Yeon Joo; Lee, Gee Won; Lee, Nam Kyung; Choi, Jung Hyun; Lee, Ji Won [Medical Research Institute, Pusan National University Hospital, Busan (Korea, Republic of)

    2016-07-15

    Coronary artery variations are associated anomalies in 45% of congenitally corrected transposition of the great arteries (ccTGA) cases, and it is important to detect any coronary artery anomalies before cardiac surgery. We report a case of a 51-year-old woman with ccTGA and an unreported type of coronary artery anomaly.

  1. Can folic acid protect against congenital heart defects in Down syndrome?

    NARCIS (Netherlands)

    Meijer, Willemijn M.; Werler, Martha M.; Louik, Carol; Hernandez-Diaz, Sonia; de Jong-van den Berg, Lolkje T. W.; Mitchell, Allen A.

    2006-01-01

    BACKGROUND: Several studies have suggested a protective effect of folic acid (FA) on congenital heart anomalies. Down syndrome (DS) infants are known to have a high frequency of heart anomalies. Not all children with DS suffer from heart anomalies, which raises the question whether maternal factors

  2. Anomaly Structure of Supergravity and Anomaly Cancellation

    CERN Document Server

    Butter, Daniel

    2009-01-01

    We display the full anomaly structure of supergravity, including new D-term contributions to the conformal anomaly. This expression has the super-Weyl and chiral U(1)_K transformation properties that are required for implementation of the Green-Schwarz mechanism for anomaly cancellation. We outline the procedure for full anomaly cancellation. Our results have implications for effective supergravity theories from the weakly coupled heterotic string theory.

  3. Congenital peritoneal encapsulation

    Institute of Scientific and Technical Information of China (English)

    Diana; Teixeira; Vítor; Costa; Paula; Costa; Carlos; Alpoim; Pinto; Correia

    2015-01-01

    Peritoneal encapsulation(PE) is a rare congenital malformation, characterized by a thin accessory peritoneal membrane which covers all or part of the small bowel, forming an accessory peritoneal sac. Most cases areasymptomatic and diagnosed incidentally during surgery and/or autopsy. Clinical presentation with intestinal obstruction is extremely rare and we report a case. A 25-year-old male, referred to emergency department with diffuse abdominal pain, crampy, with 8 h evolution, associated with nausea, vomiting and constipation in the last 48 h. The abdominal examination revealed an asymmetric and fixed distension, with hard consistency on palpation of lower abdominal quadrants. The abdominal radiography reveals a small bowel distension and fluid levels. Submitted to laparoscopic surgery that recourse to conversion because there is a total peritoneal encapsulation of the small bowel. After opening the peritoneal sac, we find a rotation of mesentery, at its root, conditioning twisting of small bowel and consequently occlusion. Uneventful postoperative with discharged at the 6th day. The PE is a very rare congenital anomaly characterized by abnormal bowel back into the abdominal cavity in the early stages of development. Your knowledge becomes important because, although rare, it might be diagnosis in patients with intestinal obstruction, in the absence of other etiologic factors.

  4. Importance of GLUT1 in differential diagnosis of vascular anomalies

    Directory of Open Access Journals (Sweden)

    Tiago João da Silva Filho

    2015-06-01

    Full Text Available Vascular anomalies (VAs include a group of distinct lesions, such as vascular system congenital malformations, as well as benign and malignant vascular tumors. These lesions may present similar clinical and histopathological features, leading to mistaken diagnoses and incorrect treatment choices. It is important that professionals responsible for monitoring the development of VAs conduct precise investigations and use the appropriate terminology. The human glucose transporter protein isoform 1 (GLUT1 has been proposed as a tool to aid in differential diagnosis between different VAs, given that it is a sensitive and specific marker for identification of infantile hemangiomas (HIs in any organ. This article presents a review of the literature on this protein as an effective tool for identification and possible differential diagnosis between several VAs.

  5. Multiple Vascular Accidents Including Rupture of a Sinus of Valsalva Aneurysm, a Minor Ischemic Stroke and Intracranial Arterial Anomaly in a Patient with Systemic Congenital Abnormalities: A Case Report

    Directory of Open Access Journals (Sweden)

    Masataka Nakajima

    2013-11-01

    Full Text Available A 39-year-old man with a history of rupture of a sinus of Valsalva aneurysm experienced an ischemic stroke. Although the patient presented left-sided hemiparesis for a week, no abnormal signals were indicated on diffusion-weighted imaging with repeated magnetic resonance scans. Carotid ultrasound and cerebral angiography were conducted, and they revealed hypoplasty of the left internal carotid artery with a low-lying carotid bifurcation at the level of the C6 vertebra. In addition, he was diagnosed with intellectual disabilities, evaluated by the Wechsler Adult Intelligence Scale-III, and congenital velopharyngeal insufficiency. We herein present the first report of a patient with cardio-cerebrovascular abnormalities, intellectual disabilities, and an otorhinolaryngological abnormality.

  6. VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study.

    Science.gov (United States)

    Calderón, Juan Francisco; Puga, Alonso R; Guzmán, M Luisa; Astete, Carmen Paz; Arriaza, Marta; Aracena, Mariana; Aravena, Teresa; Sanz, Patricia; Repetto, Gabriela M

    2009-01-01

    Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for the vascular endothelial growth factor A, have been associated with non-syndromic congenital heart disease, as well as with the presence of cardiovascular anomalies in patients with microdeletion 22q11. We evaluated the association of VEGFA polymorphisms c.-2578C>A (rs699947), c.-1154G>A (rs1570360) and c.-634C>G (rs2010963) with congenital heart disease in Chilean patients with microdeletion 22q11. The study was performed using case-control and family-based association designs. We evaluated 122 patients with microdeletion 22q11 and known anatomy of the heart and great vessels, and their parents. Half the patients had congenital heart disease. We obtained no evidence of association by either method of analysis. Our results provide further evidence of the incomplete penetrance of the cardiovascular phenotype of microdeletion 22ql 1, but do not support association between VEGFA promoter polymorphisms and the presence of congenital heart disease in Chilean patients with this syndrome.

  7. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  8. Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.

    Science.gov (United States)

    Yu, Shihui; Shao, Lei; Kilbride, Howard; Zwick, David L

    2010-05-01

    Neonatal deaths account for about 67% of all deaths during the first year of life in the USA. Genetic defects are important factors contributing to neonatal deaths and congenital anomalies. Here we report on the identification of a 1.37 Mb de novo deletion of chromosome 16q24.1-q24.2 by microarray-based comparative genomic hybridization (aCGH) technique in a newborn boy with lethal severe alveolar capillary dysplasia and multiple congenital anomalies who died of irreversible pulmonary hypertension, respiratory failure and cor pulmonale at three days of age. The phenotypic findings and causal genes (FOXF1 and FOXC2) involved in producing this unusual syndrome are detailed. Our findings independently confirm the results in a previous publication describing multiple patients with similar clinical and genetic observations, and highlight the importance of scanning human genomes at high resolution for identifications of micro-imbalances as pathogenic causes in neonates with unexplained congenital anomalies. (c) 2010 Wiley-Liss, Inc.

  9. Incidence and distribution of congenital malformations clinically detected at birth: a prospective study at tertiary care hospital

    Directory of Open Access Journals (Sweden)

    Mohammad K. Gandhi

    2016-04-01

    Conclusions: From present study we conclude that incidence of congenital anomalies of CNS was highest amongst all types of congenital anomalies (meningomyelocele being the commonest. More emphasis should be given on prevention by regular antenatal care and avoidance of known teratogens and probable teratogenic agents. [Int J Res Med Sci 2016; 4(4.000: 1136-1139

  10. Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly.

    Science.gov (United States)

    Wertelecki, W; Dev, V G; Superneau, D W

    1985-08-01

    Abnormal centromere-chromatid apposition (ACCA) was noted in a patient with Peters' anomaly. Previous reports of ACCA emphasized its association with tetraphocomelia and other congenital malformations (Roberts, SC Phocomelia, Pseudothalidomide Syndromes). This report expands the array of congenital malformations associated with ACCA and emphasizes the diagnostic importance of ocular defects for the ascertainment of additional cases of ACCA and its possible relationship with abnormal cell division.

  11. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  12. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  13. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

    @@ Platelets are essential for normal hemostasis.Platelets adhere to damaged blood vessels, and then aggregate and promote activation of coagulation factors, resulting to ceasing bleeding.Both quantitative and qualitative abnormalities of platelets can cause bleeding problems.Among them, immune thrombocytopenias are the most common conditions.However, congenital thrombocytopenias are often neglected because of their relative rarity and complex laboratory tests.That causes misdiagnosis and unnecessary and potentially harmful treatments for many patients.

  14. [Congenital ranula].

    Science.gov (United States)

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  15. [Congenital cataract: general review].

    Science.gov (United States)

    Roche, O; Beby, F; Orssaud, C; Dupont Monod, S; Dufier, J L

    2006-04-01

    Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

  16. Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia: A 10-year observational follow-up with the effects on hematological parameters and growth.

    Science.gov (United States)

    Aslan, Deniz

    2017-09-12

    Congenital hypotransferrinemia (OMIM 209300) is an extremely rare disorder of inherited iron metabolism. Since its description in 1961, only 16 cases have been reported. The defective gene and molecular defect causing this disorder and clinicolaboratory findings seen in the homozygous and heterozygous states have been documented in both humans and mice. However, due to the lack of follow-up studies of the described cases, the long-term prognosis remains unknown. We present a 10-year observational follow-up of a patient previously diagnosed on a molecular basis who was treated with a unique therapy of plasma transfusion fortified with oral iron, with satisfactory clinicolaboratory responses. © 2017 Wiley Periodicals, Inc.

  17. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. Angiographic analysis of congenital mitral stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung Soo; Yeon, Kyung Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1984-09-15

    Congenital mitral stenosis may be defined as a development abnormality of the mitral valve leaflets, commissures, interchordal spaces, papillary muscles, annulus or immediate supravalvular area producing obstruction to left ventricular filling. Authors had experience of nine case of congenital mitral stenosis confirmed by two dimensional echocardiography, angiocardiography and surgery in recent 5 years since 1979, and analyzed them with emphasis on the angiographic findings. The results are as follows: 1. Among 9 cases, 6 patients were male and 3 were female. Age distribution was from 4 month to 11 years. 2. The types of congenital mitral stenosis were 1 typical congenital mitral stenosis, 5 cases of parachute mitral valve and 3 cases of supramitral ring. 3. Angiographically typical congenital mitral stenosis showed narrowing of mitral valvular opening, parachute mitral valve displayed single large papillary muscle with narrowing valvular opening and supramitral ring disclosed semilunar shaped filling defect between left atrium and ventricle. 4. Associated cardiac and extracardiac anomalies of congenital mitral stenosis, as frequency wise, were ventricular septal defect, patent ductus arteriosus, coarctation of aorta, supra and subvalvular aortic stenosis, mitral regurgitation and double outlet right ventricle. 5. Cardiac angiography is essential to diagnose congenital mitral stenosis, but the need of two dimensional echocardiography cannot be ignored.

  19. Segmentation defect in the midodontoid process and its possible relationship to the congenital type of os odontoideum

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, Guido [Department of Radiology, Texas Scottish Rite Hospital for Children, Dallas, TX (United States); Department of Radiology, University of Texas, Southwestern Medical Center, Dallas, TX (United States)

    2002-01-01

    This paper describes ten children with a developmental defect in the midportion of the odontoid process that may be related to congenital os odontoideum. Six of the patients had a skeletal dysplasia, the seventh had an associated congenital C5-C6 fusion, and the last three patients had no other congenital anomalies. (orig.)

  20. Situs inversus with levocardia and congenitally corrected transposition of great vessels with rheumatic tricuspid valve stenosis and regurgitation

    Directory of Open Access Journals (Sweden)

    Bharat B Kukreti

    2011-01-01

    Full Text Available Congenitally corrected transposition of great arteries is a rare congenital anomaly. This case report describes a 30-year-old patient of congenitally corrected transposition of the great arteries with rheumatic involvement of systemic (tricuspid atrio-ventricular valve.

  1. Proposal of new category for congenital unilateral upper limb muscular hypertrophy.

    Science.gov (United States)

    Takka, Semih; Doi, Kazuteru; Hattori, Yasunori; Kitajima, Izuru; Sano, Kazufumi

    2005-01-01

    According to congenital anomalies of the hand and forearm classifications, the common characteristic of overgrowth problems is the skeletal overgrowth of part or all of the hand. Congenital unilateral muscular hypertrophy of the upper extremity has been classified under the overgrowth (gigantism) problems as whole-limb hemihypertrophy. The common characteristic of overgrowth problems is the skeletal overgrowth of part or all of the hand, which is not prominent in these patients. Only 15 cases with this anomaly have been reported since 1962. These patients have abnormal muscles with hypertrophic appearance and changed tendon to muscle length ratio. This type of muscular hypertrophy shows an increase in the number of fibers in transverse section, as also seen in multiply innervated muscles like the sartorius and gracilis in humans. Although this phenomenon has a mosaic type distribution, there is no progression of the muscular hypertrophy during growth period. Hand deformities are not due to a part of progression of the disease but result of imbalance of the extrinsic and intrinsic muscles. The evolutionary changes of skeletal muscles should be investigated to explain this congenital phenomenon and might be classified in a different entity from the present categories.

  2. When do anomalies begin?

    Science.gov (United States)

    Lightman, Alan; Gingerich, Owen

    1992-02-01

    The present historical and methodological consideration of scientific anomalies notes that some of these are recognized as such, after long neglect, only after the emergence of compelling explanations for their presence in the given theory in view of an alternative conceptual framework. These cases of 'retrorecognition' are indicative not merely of a significant characteristic of the process of conceptual development and scientific discovery, but of the bases for such process in human psychology. Attention is given to the illustrative cases of the 'flatness problem' in big bang theory, the perigee-opposition problem in Ptolemaic astronomy, the continental-fit problem in geology, and the equality of inertial and gravitational mass.

  3. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Nahvi H.

    2007-09-01

    Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

  4. Enigmatic human tails: A review of their history, embryology, classification, and clinical manifestations.

    Science.gov (United States)

    Tubbs, R Shane; Malefant, Jason; Loukas, Marios; Jerry Oakes, W; Oskouian, Rod J; Fries, Fabian N

    2016-05-01

    The presence of a human tail is a rare and intriguing phenomenon. While cases have been reported in the literature, confusion remains with respect to the proper classification, definition, and treatment methods. We review the literature concerning this anatomical derailment. We also consider the importance of excluding underlying congenital anomalies in these patients to prevent neurological deficits and other abnormal manifestations.

  5. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    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.

  6. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Suresh V

    2010-05-01

    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 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.

  7. Prevalence and Distribution of Developmental Dental Anomalies in Pediatric Patients

    Directory of Open Access Journals (Sweden)

    Merve Erkmen Almaz

    2017-08-01

    Full Text Available Objective: The objective of this study was to evaluate the prevalence of dental anomalies in paediatric patients attending the Department of Paediatric Dentistry, Kırıkkale University Faculty of Dentistry. Materials and Methods: The study consisted a sample of 9173 patients, aged between 0-15 years, referred to our clinic between 1 August 2011-1 August 2012. The patients were examined clinically and radiographically in terms of the number, size, shape, structure and color anomalies. Results: One hundred sixty six children (1.8% were found to have developmental dental anomalies. The most frequently observed anomalies were congenitally missing teeth (0.52% and supernumerary teeth (0.27%. Anomalies such as dens invaginatus (0.03%, dentinogenesis imperfecta (0.02% and dilaceration (0.02% were encountered more rarely. Conclusion: Early diagnosis and determination of the prevalence of dental anomalies in children is important in the treatment planning.

  8. Diagnosis of Fetal Central Nervous System Anomalies by Ultrasonography

    OpenAIRE

    F. Tuncay Ozgunen

    2003-01-01

    During the last 30 years, one of the most important instruments in diagnosis is ultrasonograph. It has an indispensible place in obstetrics. Its it possible to evaluate normal fetal anatomy, to follow-up fetal growth and to diagnose fetal congenital anomalies by ultrasonography. Central nervous system anomalies is the one of the most commonly seen and the best time for screening is between 18- and 22-week of pregnancy. In this paper, it is presented the sonographic features of some outstandin...

  9. Análisis de diez años de registro de malformaciones congénitas en Costa Rica Ten year analysis of the national registry of congenital anomalies in Costa Rica

    Directory of Open Access Journals (Sweden)

    María de la Paz Barboza-Argüello

    2008-12-01

    la madre y el sexo del recién nacido son factores de riesgo para la presencia de malformaciones. Se requiere de estudios analíticos para determinar las causas del aumento significativo de la prevalencia de polimalformados, a partir de 2001 en la provincia de Limón.Background and aim: Congenital malformations are the second leading cause of infant mortality in Costa Rica. We studied the prevalence of malformed and polymalformed newborns between the years of 1996 and 2005 and describe the secular trend of these congenital diseases. Methods: The population based passive registry of the Congenital Malformations Registry Center, INCIENSA and the online database of the Central American Center for Population of the University of Costa Rica were the data sources. A newborn with malformation coded with a single CIE 10 number was classified as "simple" and as "polymalformed" when he or she presented at least 2 malformations or a specific syndrome. Prevalence of these congenital diseases were analyzed in time according to birth’s condition (dead or alive, mother’s age, province of residence, and newborn’s gender. Additionally, a logistic regression model was performed using the presence or absence of malformation as dependent variable and the mother’s age, place of residence and newborn gender as independent variables. Results: Of the total of newborns during the study period (n=755 978, 1.47% (95% = 1.44 - 1.49 were malformed (11 099 newborns and 34.8 / 10 000 infants (95% = 33.4 to 36.1 were polymalformed (2 629 newborns. Of the total malformed newborns, 40.5% presented syndromes and 59.5% had association of 2 or more malformations. Malformations related to the skeletalmuscle system and to Down’s syndrome were the most common. Different from findings in other provinces, the prevalence of polymalformations increased significatively in the Province of Limon during the second quinquennium of the study period. The prevalence of malformed and polymalformed newborns

  10. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  11. MR findings of congenital anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  12. Congenital hypoaldosteronism.

    Science.gov (United States)

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  13. Imaging of congenital diaphragmatic hernias

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, George A.; Estroff, Judy A. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); Atalabi, Omolola M. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); The College of Medicine/University College Hospital, Ibadan (Nigeria)

    2009-01-15

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  14. Chiral anomalies and differential geometry

    Energy Technology Data Exchange (ETDEWEB)

    Zumino, B.

    1983-10-01

    Some properties of chiral anomalies are described from a geometric point of view. Topics include chiral anomalies and differential forms, transformation properties of the anomalies, identification and use of the anomalies, and normalization of the anomalies. 22 references. (WHK)

  15. First isolation and genetic characterization of a Toxoplasma gondii strain from a symptomatic human case of congenital toxoplasmosis in Romania

    Science.gov (United States)

    Costache, Carmen Anca; Colosi, Horaţiu Alexandru; Blaga, Ligia; Györke, Adriana; Paştiu, Anamaria Ioana; Colosi, Ioana Alina; Ajzenberg, Daniel

    2013-01-01

    Very limited data exists on the genetic diversity of Toxoplasma gondii from Eastern Europe. We present the first Romanian case of symptomatic congenital toxoplasmosis in which the T. gondii strain was isolated after inoculation in mice of a cerebrospinal fluid sample from a living neonate. The T. gondii strain was genotyped with 15 microsatellite markers distributed on 10 of the 14 chromosomes of T. gondii. The strain had a type II genotype. PMID:23537840

  16. Persistent Hyperinsulinemic Hypoglycemia of Infancy: A Rare Case with Multiple Anomalies

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    Zohre Sadat Sangsefidi

    2015-09-01

    Conclusion: Infants with PHHI are at a high risk of severe neurological damage due to severe hypoglycemia, unless immediate and adequate medical interventions are carried out. Considering the co-occurrence of different congenital anomalies and PHHI in the present case, further assessment of concomitant congenital disorders is highly recommended in PHHI patients.

  17. Congenital malformations of the temporal bone.

    Science.gov (United States)

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  18. Straight line closure of congenital macrostomia

    Directory of Open Access Journals (Sweden)

    Schwarz Richard

    2004-01-01

    Full Text Available The results of patients operated on by Nepal Cleft Lip and Palate Association (NECLAPA surgeons for congenital macrostomia were prospectively studied between January 2000 and December 2002. There were four males and three females with a median age of 10 years. Three had an associated branchial arch syndrome. In all patients an overlapping repair of orbicularis oris was done. Six patients had a straight line closure with excellent cosmetic results and one a Z-plasty with a more obvious scar. All had a normal appearing commissure. Overlapping orbicularis repair with straight line skin closure for this rare congenital anomaly is recommended.

  19. Ebstein's Anomaly, Left Ventricular Noncompaction, and Sudden Cardiac Death

    Science.gov (United States)

    McGee, Michael; Warner, Luke; Collins, Nicholas

    2015-01-01

    Ebstein's anomaly is a congenital disorder characterized by apical displacement of the septal leaflet of the tricuspid valve. Ebstein's anomaly may be seen in association with other cardiac conditions, including patent foramen ovale, atrial septal defect, and left ventricular noncompaction (LVNC). LVNC is characterized by increased trabeculation within the left ventricular apex. Echocardiography is often used to diagnose LVNC; however, magnetic resonance (MR) imaging offers superior characterization of the myocardium. We report a case of sudden cardiac death in a patient with Ebstein's anomaly with unrecognized LVNC noted on post mortem examination with screening documenting the presence of LVNC in one of the patient's twin sons. PMID:26240764

  20. Diagnosis of Fetal Central Nervous System Anomalies by Ultrasonography

    Directory of Open Access Journals (Sweden)

    F. Tuncay Ozgunen

    2003-04-01

    Full Text Available During the last 30 years, one of the most important instruments in diagnosis is ultrasonograph. It has an indispensible place in obstetrics. Its it possible to evaluate normal fetal anatomy, to follow-up fetal growth and to diagnose fetal congenital anomalies by ultrasonography. Central nervous system anomalies is the one of the most commonly seen and the best time for screening is between 18- and 22-week of pregnancy. In this paper, it is presented the sonographic features of some outstanding Central Nervous System anomalies. [Archives Medical Review Journal 2003; 12(2.000: 77-89