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Sample records for human congenital malformations

  1. 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

  2. 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

  3. 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...

  4. Prevalence of Congenital Malformations

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    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  5. [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.

  6. Congenital Vascular Malformation

    Science.gov (United States)

    ... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel– ... 3) non-profit organization focused on providing public education and improving awareness about vascular diseases. For more ...

  7. Congenital pseudoarthrosis associated with venous malformation

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    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  8. Characterization of Live Birth with Congenital Malformations

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    Carlos Acosta Batista

    2015-06-01

    Full Text Available Background: the congenital malformations constitute the first cause of infantile death in developed countries, as well as the second cause of death in Cuba, in younger children of an elderly year. Objective: characterizing the live birth newborns with congenital malformations at Marianao municipality during the year 2011. Methods: descriptive, cross-section study of 30- live birth with congenital malformations at Marianao municipality in Havana, during the year 2011. Some of analyzed variables were: sex, affected system, congenital malformation, type of malformation, severity, birth weight, gestational age, prenatal diagnosis, family history of congenital malformation, maternal age, among others. Results: the masculine sex was the more affected, with 18 cases that represented the 60 %. The Polydactyl was the malformation further frequent, with 23.3 %, followed by the pre-aural appendix, with 10 %. The 20 % was born pre-term and only in the 10 % of the cases was obtained a positive result in the tests of prenatal diagnosis. Conclusions: the live birth with MC were characterized to be males with isolated MC and less severe, full term, normopeso, without family history of the aforementioned affection and with a negative prenatal diagnosis. The majority of mothers belonged to 20-35's age group years, they suffered from hypertension and during pregnancy, the principal diseases that they presented were the sepsis and anemia.

  9. Congenital malformations of the skull and meninges.

    Science.gov (United States)

    Kanev, Paul M

    2007-02-01

    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

  10. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

  11. Congenital Malformations in River Buffalo (Bubalus bubalis

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    Sara Albarella

    2017-02-01

    Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  12. MR findings of congenital anorectal malformation

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    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.

  13. Congenital Chiari malformations: A review

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    Vannemreddy Prasad

    2010-01-01

    Full Text Available Chiari malformation is the commonest anomaly of the craniovertebral junction involving both the skeletal as well as the neural structures. This entity has rapidly evolved over the past decade with newer visualization techniques, thus posing new challenges to diagnosis and management. This review includes the developmental theories, the latest nomenclature and existing treatment modalities of this interesting anomaly. Five theories tried to explain the malformation of the hindbrain and the neuraxis but no single theory completes the development of embryonic defects. Several atypical presentations have been reported with either incidental/asymptomatic features resulting in further classifications. The new magnetic resonance imaging flow techniques attempt to substantiate the clinical presentations and correlate with the abnormality which can be subtle in correlation. Surgical correction to improve the cranial volume, decrease the hydrocephalus and improve flow across the foramen magnum is the mainstay but needs to be tailored to a given type of malformation. Further clinical and imageological studies, especially longitudinal natural history, might improve our understanding of the atypical/asymptomatic presentations and the management that is currently available.

  14. Congenital Malformations in River Buffalo (Bubalus bubalis)

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    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  15. 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.

  16. Congenital spinal malformations; Kongenitale spinale Malformationen

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    Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

  17. Behavioral effects of congenital ventromedial prefrontal cortex malformation

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    Boes Aaron D

    2011-12-01

    Full Text Available Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process.

  18. Congenital cardiovascular malformations and the fetal circulation.

    Science.gov (United States)

    Rudolph, A M

    2010-03-01

    After birth, gas exchange is achieved in the lung, whereas prenatally it occurs in the placenta. This is associated with differences in blood flow patterns in the fetus as compared with the postnatal circulation. Congenital cardiovascular malformations are associated with haemodynamic changes in the fetus, which differ from those occurring postnatally. Obstruction to cardiac outflow may alter myocardial development, resulting in progressive ventricular hypoplasia. Alteration of oxygen content may profoundly influence pulmonary vascular and ductus arteriosus responses. Interference in blood flow and oxygen content may affect cerebral development as a result of inadequate oxygen or energy substrate supply. The circulatory effects may be gestational dependent, related to maturation of vascular responses in different organs. These prenatal influences of congenital cardiac defects may severely affect immediate, as well as longterm, postnatal prognosis and survival. This has stimulated the development of techniques for palliation of disturbed circulation during fetal life.

  19. Valproic acid monotherapy in pregnancy and major congenital malformations

    DEFF Research Database (Denmark)

    Jentink, Janneke; Loane, Maria A; Dolk, Helen

    2010-01-01

    The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

  20. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

    NARCIS (Netherlands)

    Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.

    2012-01-01

    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 Novemb

  1. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

    NARCIS (Netherlands)

    Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.

    2012-01-01

    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25

  2. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

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    Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

    2006-04-15

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  3. Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations

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    Jacobsen F Stig

    2007-09-01

    Full Text Available Abstract Background Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital vertebral malformations represent a sporadic occurrence, linkage approaches to identify genes associated with human vertebral development are not feasible. We hypothesized that WNT3A mutations might account for a subset of congenital vertebral malformations. Methods A pilot study was performed using a cohort of patients with congenital vertebral malformations spanning the entire vertebral column was characterized. DNA sequence analysis of the WNT3A gene in these 50 patients with congenital vertebral malformations was performed. Results A female patient of African ancestry with congenital scoliosis and a T12-L1 hemivertebrae was found to be heterozygous for a missense variant resulting in the substitution of alanine by threonine at codon 134 in highly conserved exon 3 of the WNT3A gene. This variant was found at a very low prevalence (0.35% in a control population of 443 anonymized subjects and 1.1% in an African population. Conclusion These data suggest that WNT3A does not contribute towards the development of congenital vertebral malformations. Factors such as phenotypic and genetic heterogeneity may underlie our inability to detect mutations in WNT3A in our patient sample.

  4. Twin pregnancy in the congenital malformed uterus.

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    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity.

  5. Congenital malformations of the external and middle ear

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    Koesling, S. [University of Halle, Department of Diagnostic Radiology (Germany)], E-mail: sabrina.koesling@medizin.uni-halle.de; Omenzetter, M. [University of Halle, Department of Diagnostic Radiology (Germany); Bartel-Friedrich, S. [University of Halle, Department of Otorhinolaryngology - Head and Neck Surgery, Section of Phoniatrics and Pedaudiology (Germany)

    2009-02-15

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented.

  6. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

    2014-01-01

    OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and regis....... Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy.......OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010...... and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized...

  7. Socio- Cultural Variables Of Congenital Malformation In Newborns

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    Khan Zulfia

    1997-01-01

    Full Text Available Research question: Is there an association between common socio â€" cultural variables and congenital malformation? Objectives: To determine the rate of congenital malformation at birth in hospital deliveries and its association with socio- cultural factors. Study design : Cross- sectional. Setting: J.N. Medical College Hospital and Mohanlal Gautam Rajkiya Hahila Chikitsalaya (District hospital, Aligarh. Participants: All newborn babies (including still births delivered in the two hospitals and their mothers. Study variables: Social class, religion, consanguinity of marriage, age of mother, parity, urban rural status, history of viral illness, drug intake and tobacco use during pregnancy. Outcome variables: Congenital malformations at birth. Statistical analysis: Chi- square test. Results: The overall prevalence of congenital malformations was 2.8%, being 1.6% in live births and 15.6% in stillbirths. Social class, consanguinity of marriage, parity, urban or rural status and history of viral illness during pregnancy were significantly associated with the date of congenital malformation. Conclusion: Certain socio- cultural factors are associated with congenital malformations and can be used in screening during ante- natal period.

  8. Human malformations induced by environmental noxae

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    Hecker, W.C.; Angerpointner, T.A.

    1980-01-01

    The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals.

  9. Congenital subclavian arteriovenous malformation causing cardiac failure in an adult.

    Science.gov (United States)

    Anoop, T M; Sreejith, P; Thomas, Joby K; Gailin, B; Jabbar, P K; Ittycheria, Cherian C; George, Raju

    2009-07-01

    Congenital arteriovenous malformations (AVMs) of the thoracic region are rarely reported in adults. The authors report an unusual case of a 30-year-old man who presented with a large congenital AVM and heart failure. The diagnosis was made using transthoracic Doppler echocardiography and computed tomography. Embolization followed by surgical resection of the AVM resulted in the prompt relief of heart failure.

  10. 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

  11. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

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    Bengt Källén

    2014-01-01

    Full Text Available Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs or risk ratios (RRs after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23 259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1 567 736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14. For anal atresia the RR was 1.85 (95% CI 1.00–1.85 and for choanal atresia 3.14 (95% CI 1.26–6.47. The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible.

  12. Computed tomography of congenital brain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Sarwar, M.

    1984-01-01

    This book is illustrated showing each condition. This book is designed to correlate the pathology of CNS malformations with their CT scan appearance, mainly on the axial images. The author has drawn upon his personal experience and the information gleaned from the literature dealing with the description of the CT scan findings of these malformations. The emphasis is on simplicity of description. Since a large degree of morphological variation exists in each entity, numerous illustrations (wherever applicable) are shown to depict those variations. When appropriate, deficiency of the CT scan in the evaluation of these CNS malformations also is indicated. A description of CNS embryology is included as well.

  13. Congenital malformations of the spinal cord without early symptoms.

    Science.gov (United States)

    Moffie, D; Stefanko, S Z; Makkink, B

    1986-01-01

    Description of 11 patients with congenital malformations of the spinal cord. Six of them were males, five females and the age varied from 7 to 70 years. Most of these cases produced clinical neurological signs indicating spinal cord disease in later life during an intercurrent disease. It was thought that changes in the bloodvessels and/or perfusion of the area of the spinal cord malformation was the ultimate cause of the neurological symptoms. An exact explanation of the origin of these developmental disturbances of the spinal cord remains unknown. Different hypotheses proposed in the literature, concerning these malformations, are not satisfactory.

  14. Anthelmintic induced congenital malformations in sheep embryos using netobimin.

    Science.gov (United States)

    Navarro, M; Cristofol, C; Carretero, A; Arboix, M; Ruberte, J

    1998-01-24

    Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular malformations were observed for the first time. The abnormalities were investigated using radiological, dissection and vascular injection techniques, and associations among them were recorded. The anomalies are discussed in terms of embryological considerations.

  15. Congenital inner ear malformations without sensorineural hearing loss in children.

    Science.gov (United States)

    Ozeki, Michio; Kato, Zenichiro; Sasai, Hideo; Kubota, Kazuo; Funato, Michinori; Orii, Kenji; Kaneko, Hideo; Fukao, Toshiyuki; Kondo, Naomi

    2009-10-01

    Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months. Clinical and neuro-otological examinations showed peripheral involvement of the vestibular system, while audiological investigation was normal. High-resolution magnetic resonance imaging, with three-dimensional reconstruction, showed dysplasia of the bilateral lateral semicircular canals (LSCCs). Isolated vestibular malformation might not be as rare as previously thought, and should be examined by imaging of the temporal bone.

  16. Gross congenital malformation at birth in a government hospital

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    Sandeep Sachdeva

    2014-01-01

    Full Text Available A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks with three leading malformation as anencephaly (44.68%, talipes equinovarus (17.02% and meningomyelocele (10.63%. Higher risk of malformed births were noticed amongst un-booked (2.07% in-comparison to booked (1.01% mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]; gravida status of at least 3 (2.69% followed by 1 (1.43% and 2 (1.0% respectively; pre-term (5.13% vs. term (0.66%; cesarean section (4.36% versus vaginal delivery (0.62%. Mortality was significantly higher among congenitally malformed (17.35% than normal (0.34% newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid that needs appropriate attention and management.

  17. Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report

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    N. S. Kamakeri

    2016-10-01

    Full Text Available Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.

  18. Congenital malformations and maternal occupational exposure to glycol ethers

    NARCIS (Netherlands)

    Cordier, S; Bergeret, A; Goujard, J; Ha, MC; Ayme, S; Calzolari, E; DeWalle, HEK; KnillJones, R; Candela, S; Dale, [No Value; Dananche, B; deVigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-01-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during preg nanc

  19. 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

  20. Congenital malformations of the vertebral column in ancient amphibians.

    Science.gov (United States)

    Witzmann, F; Rothschild, B M; Hampe, O; Sobral, G; Gubin, Y M; Asbach, P

    2014-04-01

    Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations (hemi, wedge and block vertebrae) in Permian and Triassic temnospondyls, showing that defects of formation and segmentation in the tetrapod vertebral column represent a fundamental failure of somitogenesis that can be followed throughout tetrapod evolution. This is irrespective of the type of affected vertebra, that is, rhachitomous or stereospondylous, and all components of the vertebra can be involved (intercentrum, pleurocentrum and neural arch), either together or independently on their own. This is the oldest known occurrence of wedge vertebra and congenital block vertebra described in fossil tetrapods. The frequency of vertebral congenital malformations in amphibians appears unchanged from the Holocene.

  1. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

  2. Radiographic assessment of congenital malformations of the upper extremity

    Energy Technology Data Exchange (ETDEWEB)

    Winfeld, Matthew J. [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, Musculoskeletal Division, Penn Medicine University City, Philadelphia, PA (United States); Otero, Hansel [Children' s National Medical Center, Department of Radiology, Washington, DC (United States)

    2016-09-15

    Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

  3. Histopathological study of congenital aortic valve malformations in 32 children

    Institute of Scientific and Technical Information of China (English)

    HUANG Ping; WANG Hongwei; LI Yanping; CHENG Peixuan; LIU Qingjun; ZHANG Zhenlu; LIU Jianying

    2007-01-01

    The histopathological characteristics of congenital aortic valve malformations in children were investigated.All the native surgically excised aortic valves from 32 pediatric patients suffering from symptomatic aortic valve dysfunction due to congenital aortic valve malformations between January 2003 and December 2005 were studied macroscopically and microscopically.The patients' medical records were reviewed and the clinical information was extracted.The diagnosis was made by the clinical presentation,preoperative echocardiography,intraoperative examination,and postoperative histopathological study,excluding rheumatic ot degenerative aortic valve diseases,infective endocarditis and primary connective tissue disorders,e.g.Marfan syndrome.Among 32 children with congenital aortic valve malformations,the age was ranged from six to 18 years,with a mean of 14.9 years,and there were 27 boys and five girls (male:female = 5.4:1).There were five cases of aortic stenosis (AS,15.62%),25 cases of aortic insufficiency (AI,78.13 %)and two cases of AS-AI (6.25%),without other valve diseases.Twenty cases still had other congenital heart diseases:ventricular septal defect (19 cases),patent ductus arteriosus (two cases),double-chambered right ventricle (one case),aneurysm of the right anterior aortic sinus of valsalva (three cases).Histopathological examination indicated that the cusps became thickening with unequal size,irregular shape (coiling and prolapse edge),enhanced hardness,and partly calcification.Microscopic investigation revealed the unsharp structure of valve tissue,fibrosis,myxomatous,reduced collagen fiber,rupture of elastic fibers,different degrees of infiltration of inflammatory cells,secondary calcareous and lipid deposit,and secondary fibrosis.Congenital aortic valve malformations in children involve males more than females,mostly associated with other congenital heart diseases.Aortic insufficiency is more common in children with congenital aortic valve

  4. Electroencephalography in congenital malformations of the central nervous system

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    Patrícia Campos

    1994-12-01

    Full Text Available We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.

  5. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

    Science.gov (United States)

    van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P

    2012-02-01

    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight

  6. A STUDY OF CONGENITAL MALFORMATIONS OF THE EXTERNAL EAR

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    Rubi Saikia

    2016-10-01

    Full Text Available BACKGROUND Congenital external ear malformations like Microtia, Anotia, Preauricular skin tags, etc. cause severe psychological problems in children. If accompanied with atresia of the external auditory canal and the middle ear; hearing loss, developmental delays are also associated with such malformations. AIM The aim of the present study is to evaluate the commonly occurring congenital external ear defects in this part of India. MATERIALS AND METHODS This study was undertaken in patients attending the Plastic Surgery OPD at Assam Medical College Hospital and Smile Train Centre at Srishti Hospitals and Research Centre at Dibrugarh, Assam, from July 2013 to July 2016. We did an analysis of 25 patients with visibly noticeable external ear deformities and recorded the findings as per proforma and took photographs. RESULTS Among the 25 cases, 9 (36% were males and 16 (64% were females. The most common congenital anomaly that we found was microtia 7 (28%. Of these, 1 (4% was isolated microtia and 6 (24% were associated with hemifacial microsomia. The second common finding was preauricular skin tags 5 (20%. 3 of the microtia cases also presented with external auditory canal atresia and hearing loss. CONCLUSION Congenital anomalies of the external ear can seriously change a child’s personality. Proper diagnosis and treatment of such cases will definitely reduce the possible psychological, physical and financial problems of the patient and family as most of them are surgically correctable.

  7. Parental perceptions of congenital cardiovascular malformations in their children.

    Science.gov (United States)

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute.

  8. Congenital inner ear malformations without sensorineural hearing loss.

    Science.gov (United States)

    Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

    2008-03-01

    It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

  9. Possible association between acetazolamide administration during pregnancy and multiple congenital malformations

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    Al-Saleem AI

    2016-04-01

    Full Text Available Afnan I Al-Saleem,1 Asma M Al-Jobair21Dental Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; 2Department of Pediatric Dentistry and Orthodontics, College of Dentistry, King Saud University, Riyadh, Saudi ArabiaAbstract: Congenital malformations might occur because of environmental or genetic factors, and sometimes occur because of unknown causes. Acetazolamide is a carbonic anhydrase inhibitor that is used to treat idiopathic intracranial hypertension, glaucoma, and epilepsy. The use of acetazolamide has not been recommended for pregnant women because of reported teratogenic risks. Congenital malformations, such as ectrodactyly, syndactyly, cleft lip/palate, and retarded incisor teeth development, have been reported in experimental animals. However, tooth agenesis due to the use of acetazolamide has not been reported yet. Oligodontia is a severe type of tooth agenesis involving six or more congenitally missing teeth. The causes of oligodontia are attributed to environmental factors, such as irradiation, drugs, trauma, tumors, infection, genetic factors, or a combination. There is no credible evidence of undesirable effects of acetazolamide use in human pregnancy. However, we report a case of a 12-year-old Saudi boy who was exposed to maternal acetazolamide (1,000 mg/day for treatment of idiopathic intracranial hypertension before pregnancy, during the first trimester, and throughout the pregnancy. This treatment might have resulted in some congenital malformations, such as ectrodactyly, syndactyly, and oligodontia.Keywords: acetazolamide, oligodontia, ectrodactyly, syndactyly

  10. 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.

  11. Use of tramadol in early pregnancy and congenital malformation risk.

    Science.gov (United States)

    Källén, Bengt; Reis, Margareta

    2015-12-01

    Only few studies exist regarding the risk of a teratogenic effect of tramadol when used in early pregnancy. Using the Swedish Medical Birth Register, women (deliveries in 1997-2013) who had reported the use of tramadol in early pregnancy were identified. Maternal characteristics and concomitant drug use were analyzed. Among 1,682,846 women (1,797,678 infants), 1751 (1776 infants) had used tramadol, 96 of the infants had a congenital malformation and 70 of them were relatively severe. The adjusted odds ratio for a relatively severe malformation was 1.33 (95% CI 1.05-1.70). The odds ratios for cardiovascular defects (1.56, 95% CI 1.04-2.29) and for pes equinovarus (3.63, 95% CI 1.61-6.89) were significantly increased. The study suggests a teratogenic effect of tramadol but the risk increase is moderate. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. A congenital malformation of the maxilla of a horse.

    Science.gov (United States)

    Tudor, R A; Ramirez, O; Tate, L P; Gerard, M P

    1999-01-01

    A 1-month-old male American Paint Horse was evaluated for a hard swelling on the right side of the maxillary region. On radiographs there was a large, expansile outpouching of the right maxillary bone between the second and third premolar teeth. Computed tomography further characterized the expansile lesion to have a soft tissue component and to originate in the region of a caudal maxillary tooth. Surgical reconstruction of the defect was unsuccessful and the animal was euthanetized. Based on failure to find histopathologic evidence of a neoplasm or cyst, the diagnosis was a congenital malformation.

  13. [Ultrasonographic diagnosis of polyhydramnios and its association with congenital malformations].

    Science.gov (United States)

    Romero Gutierrez, G; Fuentes Paramo, H; Membrila Alfaro, E; Vargas Huerta, M

    1996-01-01

    We carried out a prospective study at the Hospital de Gineco-Obstetricia del Instituto Mexicano del Seguro Social, in León, Guanajuato in order to evaluate the association between polyhydramnios and fetal congenital anomalies. 200 women were included, 100 with polyhydramnios and 100 with normal amniotic fluid (control group). The diagnosis of polyhydramnios was made with ultrasound scanning using maximum vertical pocket technique and amniotic fluid index. The patients with polyhydramnios had an average maximum vertical pocket of 9.3 centimeters and amniotic fluid index of 27.0 centimeters. In patients with polyhydramnios 24 cases of congenital malformations were found, and none in patients with normal amniotic fluid (P < 0.01). The most common fetal anomalies were: esophageal atresia (25%), anencephaly (21%) and ductus arteriosus (21%). There were six perinatal deaths in the group of patients with polyhydramnios, five of them had congenital abnormalities, on the other hand in the control group there were no perinatal deaths (P < 0.01). Owing to the signifficative association between polyhydramnios and congenital anomalies, we suggest to reinforce the ultrasound evaluation in order to detect these abnormalities and to offer an early treatment and therefore a better prognosis to the fetus.

  14. Research Concerning the Correlations Between Urinary Tract Infections and Congenital Malformations of the Renourinary System

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    Moréh Zsuzsanna

    2013-02-01

    Full Text Available Introduction: Congenital malformations of the urinary system are risk factors for the development of urinary tract infections (UTI. Besides the severity of the malformation, urinary infection is always associated with poor prognosis for these patients. Late discovery of the malformation background, after several urinary tract infection episodes, contributes to the development of chronic pyelonephritis that may lead to chronic renal failure.

  15. PATTERN OF BABIES WITH CONGENITAL MALFORMATIONS ADMITTED IN A TERTIARY NEWBORN CARE UNIT

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    Saminathan

    2015-05-01

    Full Text Available AIM: To determine the pattern of congenital malformation in the neonates admitted in Mahatma Gandhi Memorial government Hospital, Trichy. METHOD: 16,672 live birth babies delivered in Mahatma Gandhi Memorial government Hospital, Trichy were screened for external congenital malformation during the study period august 2011 to august 2013. Total of 232 neonates were diagnosed have congenital malformat ions. Radiological investigations was done to confirm internal anomalies in asymptomatic neonates. RESULTS: Study showed a prevalence of major con genit al malformation to be 13.9 / 1000 live births, neural tube defects being the commonest (25%. The inciden ce is significantly high in mother of age group >35 years, increasing parity, positive family history. Congenital malformation constitutes a significant proportion of neonatal mortality. CONCLUSION: Congenital malformations are higher in mothers age group of >35 increasing parity, maternal hyperglycemia and preterm babies. Periconceptional folic acid intake is important to prevent neural tube defects.

  16. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Chengming Fan

    2015-01-01

    Full Text Available A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

  17. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Science.gov (United States)

    Fan, Chengming; Huang, Can; Liu, Jijia; Yang, Jinfu

    2015-01-01

    A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade. PMID:26294998

  18. Congenital malformation among newborns at Dr. Pirngadi Hospital Medan during 1981-1984.

    Science.gov (United States)

    Lubis, B; Tjipta, G D; Panjaitan, A J; Raid, N; Siregar, H

    1989-01-01

    A study on the incidence of congenital malformation had been assessed among 15,185 newborns delivered in the Neonatal Unit, Dr. Pirngadi Hospital Medan during 1981-1984. Still-births were not included in this study. Out of these 15,185 newborns there were 77 cases (0.51%) of congenital malformation. The four leading malformations were pes-equinovarus 7 cases (9.1%), labiognathopalatoschizis, hydrocephalus and anencephalus 6 cases each (7.7%). The number of congenital malformations was higher in the age group of mothers older than 35 years (0.78%) and in the group of babies born in the birth order as third and further (53.85%) and as first born babies (33.33%). From 77 cases with congenital malformation only 2 (2.56%) were operated soon after birth, while 49 cases (64.1%) went home without surgical intervention, and 28 cases (35.9%) died during hospitalization.

  19. Type II congenital cystic pulmonary malformation in an esophageal lung.

    Science.gov (United States)

    Martínez-Martínez, Blanca E; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

    2013-01-01

    A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.

  20. Mutations of connexin43 in fetuses with congenital heart malformations

    Institute of Scientific and Technical Information of China (English)

    CHEN Ping; XIE Li-jian; HUANG Guo-ying; ZHAO Xiao-qing; CHANG Cai

    2005-01-01

    Background Gap junction channels formed by connexin43 (Cx43) protein are important in cardiac morphogenesis, and Cx43 gene is thought to be associated with congenital heart malformation (CHM). This study was undertaken to detect the mutations of Cx43 in fetuses with CHM.Methods Cx43 extron DNA was amplified by PCR from 16 fetuses with a variety of CHM. The PCR products were analyzed by SSCP and DNA sequencing. Thirty children who had no CHM were selected as controls. Results Eight homozygous mutations of Cx43 were observed in a fetus with double outlet right ventricule (DORV), five of the 8 mutations were missense mutations including Arg239Trp, Ser251Thr, Ala253Pro, Pro283Leu and Thr290Asn, and the remaining 3 were silent polymorphisms including Gly252Gly, Pro256Pro and Thr275Thr. No mutations were found in other fetuses and the control group.Conclusions Mutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.

  1. [Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile (1988-1998)].

    Science.gov (United States)

    Aguila, A; Nazer, J; Cifuentes, L; Mella, P; de la Barra, P; Gutiérrez, D

    2000-02-01

    Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. To study the prevalence of congenital malformations at birth in Easter Island. A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

  2. Short term and long term health related quality of life after congenital anorectal malformations and congenital diaphragmatic hernia

    NARCIS (Netherlands)

    M.J. Poley (Marten); E.A. Stolk (Elly); D. Tibboel (Dick); J.C. Molenaar; J.J. van Busschbach (Jan)

    2004-01-01

    textabstractAIMS: To examine short term and long term health related quality of life (HRQoL) of survivors of congenital anorectal malformations (ARM) and congenital diaphragmatic hernia (CDH), and to compare these patients' HRQoL with that of the general population. METHODS: HRQoL

  3. Pregnancy exposure to olanzapine, quetiapine, risperidone, aripiprazole and risk of congenital malformations. A systematic review

    DEFF Research Database (Denmark)

    Ennis, Zandra Nymand; Damkier, Per

    2015-01-01

    To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first......-trimester exposure and pregnancy outcome with respect to congenital malformations. Cumulated data for olanzapine were 1090 first-trimester-exposed pregnancies with 38 malformations resulting in a malformation rate of 3.5%. The corresponding numbers for quetiapine, risperidone and aripiprazole were 443/16 (3.6%), 432...... of congenital malformation. Data for quetiapine and risperidone do not suggest a substantially increased risk, while the risk estimate for aripiprazole remains imprecise owing to a low amount of data....

  4. Neonatal outcome and congenital malformations in children born after ICSI with testicular or epididymal sperm

    DEFF Research Database (Denmark)

    Fedder, Jens; Loft, A; Parner, Erik Thorlund;

    2013-01-01

    Does neonatal outcome including congenital malformations in children born after ICSI with epididymal and testicular sperm [testicular sperm extraction (TESE)/percutaneous epididymal sperm aspiration (PESA)/testicular sperm aspiration (TESA) (TPT)] differ from neonatal outcome in children born after...

  5. Congenital malformations and maternal consumption of benzodiazepines: a case-control study.

    Science.gov (United States)

    Laegreid, L; Olegård, R; Conradi, N; Hagberg, G; Wahlström, J; Abrahamsson, L

    1990-05-01

    This study assessed potential teratogenic properties of benzodiazepine (BZD) intake during early pregnancy. Four neonatal diagnoses of congenital malformations (embryopathy and fetopathy, unspecified; unspecified congenital malformations of the nervous system; cleft palate and cleft lip; congenital malformations of the urinary tract) were selected. The authors' previous clinical experience had shown these diagnoses to be characteristic of infants born to mothers with excessive intake of BZD in early pregnancy. The selected diagnoses were present in 25 of 10,646 liveborn infants (2.3 per 1000) delivered by mothers living in the city of Gothenburg in 1985 and 1986. In 18 of these cases, it was possible to analyse maternal plasma, and eight samples (44 per cent) were found to be BZD-positive. Of 60 controls, two maternal blood samples (3 per cent) were positive for BZD. The difference is highly significant and suggests an association between these congenital malformations and BZD consumed during early gestation.

  6. Radiology, histology and short-term outcome of asymptomatic congenital thoracic malformations

    DEFF Research Database (Denmark)

    Kongstad, Thomas; Buchvald, Frederik; Brenøe, Jørn;

    2012-01-01

    The aim of this study was to evaluate the safety and short-term outcome of our management of asymptomatic children with antenatally diagnosed congenital thoracic malformations (CTM), compared with recommendations from a recent review and meta-analysis....

  7. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

    NARCIS (Netherlands)

    Garne, E; Loane, M; de Vigan, C; Scarano, G; de Walle, H; Gillerot, Y; Stoll, C; Addor, MC; Stone, D; Gener, B; Feijoo, M; Mosquera-Tenreiro, C; Gatt, M; Queisser-Luft, A; Baena, N; Dolk, H

    2004-01-01

    Objective To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Design

  8. [Prenatal exposure to birth control pills: risk of fetal death and congenital malformations].

    Science.gov (United States)

    Jellesen, Rikke; Andersen, Anne-Marie Nybo

    2006-06-19

    About 1% of pregnant women uses oral contraceptives during the first part of their pregnancy and thereby exposes their offspring to artificial estrogens. Artificial estrogens, such as oral contraceptives, accidentally used during pregnancy may have a negative impact on the fetus. This article reviews the literature on prenatal exposure to oral contraceptives and the risk of congenital malformations and fetal death. The conclusion is that prenatal exposure to oral contraceptives may be associated with a slightly elevated risk of certain specific congenital malformations.

  9. Placenta previa and risk of major congenital malformations among singleton births in Finland.

    Science.gov (United States)

    Kancherla, Vijaya; Räisänen, Sari; Gissler, Mika; Kramer, Michael R; Heinonen, Seppo

    2015-06-01

    Placenta previa has been associated with adverse birth outcomes, but its association with congenital malformations is inconclusive. We examined the association between placenta previa and major congenital malformations among singleton births in Finland. We performed a retrospective population register-based study on all singletons born at or after 22+0 weeks of gestation in Finland during 2000 to 2010. We linked three national health registers: the Finnish Medical Birth Register, the Hospital Discharge Register, and the Register of Congenital Malformations, and examined several demographic and clinical characteristics among women with and without placenta previa, in association with major congenital malformations. We estimated adjusted odds ratios and 95% confidence intervals using multivariable logistic regression models. The prevalence of placenta previa was estimated as 2.65 per 1000 singleton births in Finland (95% confidence interval, 2.53-2.79). Overall, 6.2% of women with placenta previa delivered a singleton infant with a major congenital malformation, compared with 3.8% of unaffected women (p ≤ 0.001). Placenta previa was positively associated with almost 1.6-fold increased risk of major congenital malformations in the offspring, after controlling for maternal age, parity, fetal sex, smoking, socio-economic status, chorionic villus biopsy, In vitro fertilization, pre-existing diabetes, depression, preeclampsia, and prior caesarean section (adjusted odds ratio = 1.55; 95% confidence interval, 1.27-1.90). Using a large population-based study, we found that placenta previa was weakly, but significantly associated with an increased risk of major congenital malformations in singleton births. Future studies should examine the association between placenta previa and individual types of congenital malformations, specifically in high-risk pregnancies. © 2015 Wiley Periodicals, Inc.

  10. Exposure to topical chloramphenicol during pregnancy and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Thomseth, Vilde; Cejvanovic, Vanja; Jimenez-Solem, Espen

    2015-01-01

    malformations (adjusted odds ratio = 1.06, 95% CI 0.91-1.22) or specific major malformations. The number of redeemed prescriptions decreased significantly during pregnancy as compared to before and after pregnancy (p dispensing...... of chloramphenicol eye drops or eye ointment in the first trimester of pregnancy and major congenital malformations. This is in accordance with a previous study analysing the risk of systemic chloramphenicol....

  11. Diagnosis of Congenital Heart Malformations – Possibilities for the Employment of Telepathology

    OpenAIRE

    Cornelia Tennstedt; Kathrin Sunkel-Wehrstedt; Martin Vogel; Peter Hufnagl

    2000-01-01

    Goal: In a study of 10 autopsy cases with congenital cardiac malformations we investigated whether obtaining a second opinion by means of telepathology could satisfy quality standards for the diagnosis of cardiac malformations and what the advantages and disadvantages of such a procedure might be. Material: The investigatory samples were 10 formalin‐fixed hearts with complex malformations from 9 fetuses and one newborn on which autopsies had been performed at the Pathological Institute of the...

  12. Significant decrease in congenital malformations in newborn infants of an unselected population of diabetic women

    DEFF Research Database (Denmark)

    Damm, P; Mølsted-Pedersen, L

    1989-01-01

    In an unselected and consecutive series of 1858 newborn infants of diabetic mothers, born in the Rigshospital, Copenhagen, in the period 1967 to 1986, congenital malformations were studied. The malformation rate in White Classes B to F was remarkably constant from 1967 to 1981, but a significant...

  13. Cancer risk in siblings of children with congenital malformations

    DEFF Research Database (Denmark)

    Sun, Yuelian; Wu, Chunsen; Arah, Onyebuchi A

    2016-01-01

    with a CM using a Cox proportional hazards regression model. To control for confounding related to change of family structure, we estimated cancer risks for children from core families and children from broken families separately. Children were followed from birth up to 30 years of age (median follow-up 13...... but had a full or half sibling with a congenital malformation (CM) diagnosed in the first year of life; this constituted the exposed group, while children whose siblings had no such condition constituted a reference group. We estimated cancer risks for children who had a full sibling or a half sibling...... a full sibling with a CM in the nervous system (HR=2.61, 95%CI:1.60-4.27) or in the eye, ear, face, or neck (HR=2.47, 95%CI: 1.46-4.18). Children who had a half sibling with a CM seemed to have a higher cancer risk in early adulthood (HR=1.87, 95%CI: 0.98-3.56). CONCLUSIONS: Children who had a full...

  14. Type II Congenital Pulmonary Airway Malformation in an Esophageal Lung

    Directory of Open Access Journals (Sweden)

    Blanca Estela Martínez-Martínez

    2013-01-01

    Full Text Available A seven-month-old girl, born prematurely (birth weight 1000 g from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.

  15. Risk of major congenital malformations associated with infertility and its treatment by extent of iatrogenic intervention.

    Science.gov (United States)

    Farhi, Jacob; Fisch, Benjamin

    2007-06-01

    Cumulative evidence from large cohort studies, multicenter studies, and meta-analyses suggests that assisted reproductive technologies are associated with an elevated risk of congenital malformations. Theoretically, there are several putative factors in infertility treatments which may be related to the development of congenital malformations. These include, in part, the exposure to gonadotrophin stimulation and the exposure to supra-physiological levels of E2; the altered physiological environment of implantation; the in-vitro culture conditions at early stages of embryonic development; the artificial selection of sperm for fertilization and the sperm injection process in ICSI and the process of embryo cryopreservation. However, it is also possible that the culprit is not the infertility treatment that leads to the increased risk of congenital malformations but a factor or factors inherent to infertile patients. The aim of this review is to present the current data, summarize it and define the association between major congenital malformation and different types of infertility treatments as well as to infertility per se. We conducted an extensive search of the medical literature (Pubmed, 1985-2006) to identify all data relating major congenital malformations to infertile couples, infertility treatments or to characteristics of the infertile population. The rates of congenital malformations associated with infertility were analyzed by the degree of iatrogenic intervention to better define the relative risks. The findings confirmed the increased risk of congenital malformations in relation to in vitro fertilization even in singleton infants. There was no difference in the occurrence of major congenital malformations by either the laboratory maneuvers of sperm or embryos of varying complexity or by the specific medications used for ovarian stimulation or luteal support. Increased risk for congenital malformations was also found in infertile couples in relation to

  16. Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

    Science.gov (United States)

    Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado

    2017-01-25

    Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

  17. Giant congenital intercostal arteriovenous malformation with extensive involvement of chest wall and ribs: surgical experience.

    Science.gov (United States)

    Parashi, Hrishikesh Sukhadeo; Bhosle, Krishnarao Narayan; Thakare, Nitin Dashrath; Sharma, Ajay; Potwar, Sushrut Suhas

    2013-06-01

    Intercostal arteriovenous malformations (AVMs) are rare lesions. Review of literature shows that most reported cases are secondary to trauma or iatrogenic in origin. Congenital intercostal AVMs are extremely rare. We believe that only 1 case report of congenital intercostal arteriovenous malformation has been reported previously in the literature. We present an exceedingly rare case of giant congenital intercostal AVM in a young patient diagnosed on contrast-enhanced computed tomography of the thorax and treated by surgical resection of the involved chest wall and ribs with reconstruction of the surgical defect. Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  18. Congenital malformations among 911 newborns conceived after infertility treatment with letrozole or clomiphene citrate.

    Science.gov (United States)

    Tulandi, Togas; Martin, James; Al-Fadhli, Raedah; Kabli, Nadia; Forman, Rachel; Hitkari, Jason; Librach, Clifford; Greenblatt, Ellen; Casper, Robert F

    2006-06-01

    To evaluate the incidence of congenital malformations among offspring of mothers who conceived with clomiphene citrate (CC) or with letrozole treatment for infertility. Retrospective study. 5 fertility centers in Canada. 911 newborns from women who conceived following CC or letrozole treatment. Examination of medical files of both mother and newborn, and cross-checked with the parents by telephone calls. Identified major and minor congenital malformations, birth weight, age of the mother, and type of treatment that led to the conception. Overall, congenital malformations and chromosomal abnormalities were found in 14 of 514 newborns in the letrozole group (2.4%) and in 19 of 397 newborns in the CC group (4.8%). The major malformation rate in the letrozole group was 1.2% (6/514) and in the CC group was 3.0% (12/397). One newborn in the letrozole group was found to have a ventricular septal defect (0.2%) compared to 4 newborns in the CC group (1.0%). In addition, the rate of all congenital cardiac anomalies was significantly higher (P: 0.02) in the CC group (1.8%) compared to the letrozole group (0.2%). There was no difference in the overall rates of major and minor congenital malformations among newborns from mothers who conceived after letrozole or CC treatments. However, it appears that congenital cardiac anomaly is less frequent in the letrozole group. The concern that letrozole use for ovulation induction could be teratogenic is unfounded based on our data.

  19. First approximation to congenital malformation rates in embryos and hatchlings of sea turtles.

    Science.gov (United States)

    Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra

    2015-03-01

    Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.

  20. Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

    Science.gov (United States)

    Istek, Seref

    2014-06-04

    Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation.

  1. Study of Congenital Malformations in Central Nervous System AND Gastro- Intestinal Tract

    Directory of Open Access Journals (Sweden)

    Saiyad SS

    2012-04-01

    Full Text Available Introduction: Congenital malformations comprise 8% of the perinatal mortality in India. They rank fifth as a cause of perinatal mortality, after asphyxia, respiratory problems, infections and cerebral trauma. However, the pattern is changing rapidly with improvement in health care and living standards. Material & Method: In the present study, authors have tried to study the cases of congenital malformations specially related to Central nervous system and Gastro-intestinal system. 5240 cases of newborn babies were studied and results were analyzed and classified in to various categories. Findings: The results show that malformations are more common in still birth, more in female babies and more in central nervous system In live born babies the percentage of malformation is0.63 % whereas in still born baby it is6.53 %. Conclusions: Chances of having malformations increases as the age advances. Parity of mother also influences the incidence. Exposure to radiation & drugs also influences malformations. Incidence of congenital malformation is highest in central nervous system. [National J of Med Res 2012; 2(2.000: 121-123

  2. Congenital malformations at birth in Central India: A rural medical college hospital based data.

    Science.gov (United States)

    Taksande, Amar; Vilhekar, Krishna; Chaturvedi, Pushpa; Jain, Manish

    2010-09-01

    To study the incidence of congenital anomalies and the associated risk factors in Department of Pediatrics at Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, a rural medical college hospital in central Maharashtra. All the intramural deliveries between 1 January 2005 and 31 July 2007 comprised 9386 births and their 9324 mothers (62 mothers gave birth to twin babies). The newborns were examined and assessed systematically for the presence of congenital anomalies, system wise distribution of anomalies and risk factors attributable. Out of the total 9386 deliveries, 9194 were live births and 192 were stillbirths. The total number of babies with congenital malformations was 179 (1.91%). Out of the 9262 singleton births, 177 (1.05%) were malformed, whereas 2 of the 62 pairs of twins had birth defects. Nine of the 179 malformed babies (5.02%) were still born. Prematurity, increased maternal age, increasing birth order and low birth weight were found to have a higher risk of congenital anomalies. Cardiovascular malformations were most common in live births, followed by musculoskeletal and genitourinary anomalies. Congenital anomalies are a major cause of stillbirths and infant mortality. Evaluation of cardiovascular system to rule out congenital heart disease in high-risk mothers' babies is the important factor to be considered.

  3. Animal models for human craniofacial malformations.

    Science.gov (United States)

    Johnston, M C; Bronsky, P T

    1991-01-01

    Holoprosencephaly malformations, of which the fetal alcohol syndrome appears to be a mild form, can result from medial anterior neural plate deficiencies as demonstrated in an ethanol treated animal model. These malformations are associated with more medial positioning of the nasal placodes and resulting underdevelopment or absence of the medial nasal prominences (MNPs) and their derivatives. Malformations seen in the human retinoic acid syndrome (RAS) can be produced by administration of the drug 13-cis-retinoic acid in animals. Primary effects on neural crest cells account for most of these RAS malformations. Many of the malformations seen in the RAS are similar to those of hemifacial microsomia, suggesting similar neural crest involvement. Excessive cell death, apparently limited to trigeminal ganglion neuroblasts of placodal origin, follows 13-cis retinoic acid administration at the time of ganglion formation and leads to malformations virtually identical to those of the Treacher Collins syndrome (TCS). Secondary effects on neural crest cells in the area of the ganglion appear to be responsible for the TCS malformations. Malformations of the DiGeorge Syndrome are similar to those of the RAS and can be produced in mice by ethanol administration or by "knocking out" a homeobox gene (box 1.5). Human and animal studies indicate that cleft lips of multifactorial etiology may be generically susceptible because of small MNP)s or other MNP developmental alterations, such as those found in A/J mice, that make prominence contact more difficult. Experimental maternal hypoxia in mice indicates that cigarette smoking may increase the incidence of cleft lip by interfering with morphogenetic movements. Other human cleft lips may result from the action of a single major gene coding for TGF-alpha variants. A study with mouse palatal shelves in culture and other information suggest that a fusion problem may be involved.

  4. Risk of congenital malformations among children of construction painters in Denmark

    DEFF Research Database (Denmark)

    Tougaard, Ninna Hahn; Bonde, Jens Peter; Hougaard, Karin Sørig

    2015-01-01

    , malformations, and parental occupation. The cohort included >1,300,000 children born to occupationally active women in Denmark 1980-2010. Cases were hospital-diagnosed with malformations within the first year of life. Odds ratios (OR) with 95% confidence intervals (95% CI) were estimated using multiple logistic...... diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female......OBJECTIVES: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during...

  5. Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Solem, Espen Victor Jimenez; Andersen, Jon Thor Trærup; Petersen, Morten;

    2012-01-01

    . PARTICIPANTS: Pregnant women in Denmark between 1997 and 2009 and their offspring. PRIMARY OUTCOME MEASURES: For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic regression models for women exposed to an SSRI during the first trimester and for women with paused...... exposure during pregnancy. RESULTS: The authors identified 848¿786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout...... the first trimester, adjusted OR 2.01 (95% CI 1.60 to 2.53), and for pregnancies with paused SSRI treatment during pregnancy, adjusted OR 1.85 (95% CI 1.07 to 3.20), p value for difference: 0.94. The authors found similar increased risks of specific congenital malformations of the heart for the individual...

  6. Progress and perspective of TBX6 gene in congenital vertebral malformations

    OpenAIRE

    Chen, Weisheng; Liu, Jiaqi; Yuan, Dongtang; Zuo, Yuzhi; Liu, Zhenlei; Liu, Sen; Zhu, Qiankun; Qiu, Guixing; Huang, Shishu; Giampietro, Philip F.; Zhang, Feng; Wu, Nan; Wu, Zhihong

    2016-01-01

    Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes occurring with other malformations and/or clinical features. Disruption of the genesis of paraxial mesoderm, somites or axial bones can result in spinal deformity. In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX...

  7. Congenital malformations among babies born following letrozole or clomiphene for infertility treatment.

    Science.gov (United States)

    Sharma, Sunita; Ghosh, Sanghamitra; Singh, Soma; Chakravarty, Astha; Ganesh, Ashalatha; Rajani, Shweta; Chakravarty, B N

    2014-01-01

    Clomiphene citrate (CC) is the first line drug for ovulation induction but because of its peripheral antiestrogenic effect, letrozole was introduced as the 2nd line drug. It lacks the peripheral antiestrogenic effect and is associated with similar or even higher pregnancy rates. Since letrozole is a drug for breast cancer, its use for the purpose of ovulation induction became controversial in the light of studies indicating an increased incidence of congenital malformations. To evaluate and compare the incidence of congenital malformations among offsprings of infertile couples who conceived naturally or with clomiphene citrate or letrozole treatment. A retrospective cohort study done at a tertiary infertility centre. A total of 623 children born to infertile women who conceived naturally or following clomiphene citrate or letrozole treatment were included in this study. Subjects were sorted out from medical files of both mother and newborn and follow up study was done based on the information provided by parents through telephonic conversations. Babies with suspected anomaly were called and examined by specialists for the presence of major and minor congenital malformations. Other outcomes like multiple pregnancy rate and birth weight were also studied. Overall, congenital malformations, chromosomal abnormalities were found in 5 out of 171 (2.9%) babies in natural conception group and 5 out of 201 babies in the letrozole group (2.5%) and in 10 of 251 babies in the CC group (3.9%). There was no significant difference in the overall rate of congenital malformations among children born to mothers who conceived naturally or after letrozole or CC treatment. Congenital malformations have been found to be comparable following natural conception, letrozole and clomiphene citrate. Thus, the undue fear against letrozole may be uncalled for.

  8. Congenital malformations among babies born following letrozole or clomiphene for infertility treatment.

    Directory of Open Access Journals (Sweden)

    Sunita Sharma

    Full Text Available Clomiphene citrate (CC is the first line drug for ovulation induction but because of its peripheral antiestrogenic effect, letrozole was introduced as the 2nd line drug. It lacks the peripheral antiestrogenic effect and is associated with similar or even higher pregnancy rates. Since letrozole is a drug for breast cancer, its use for the purpose of ovulation induction became controversial in the light of studies indicating an increased incidence of congenital malformations.To evaluate and compare the incidence of congenital malformations among offsprings of infertile couples who conceived naturally or with clomiphene citrate or letrozole treatment.A retrospective cohort study done at a tertiary infertility centre.A total of 623 children born to infertile women who conceived naturally or following clomiphene citrate or letrozole treatment were included in this study. Subjects were sorted out from medical files of both mother and newborn and follow up study was done based on the information provided by parents through telephonic conversations. Babies with suspected anomaly were called and examined by specialists for the presence of major and minor congenital malformations. Other outcomes like multiple pregnancy rate and birth weight were also studied.Overall, congenital malformations, chromosomal abnormalities were found in 5 out of 171 (2.9% babies in natural conception group and 5 out of 201 babies in the letrozole group (2.5% and in 10 of 251 babies in the CC group (3.9%.There was no significant difference in the overall rate of congenital malformations among children born to mothers who conceived naturally or after letrozole or CC treatment.Congenital malformations have been found to be comparable following natural conception, letrozole and clomiphene citrate. Thus, the undue fear against letrozole may be uncalled for.

  9. Development and evaluation of a computer-based educational program for adults with congenitally malformed hearts.

    Science.gov (United States)

    Rönning, Helén; Nielsen, Niels Erik; Strömberg, Anna; Thilen, Ulf; Swahn, Eva

    2013-02-01

    There is a lack of educational material for adults with congenitally malformed hearts. Computer-based education has shown to have significant effects on knowledge and management of chronic diseases. The aim of this study was to develop and evaluate a computer-based educational program for adults with congenitally malformed hearts. The program was developed by a multidisciplinary team. Data were collected by questionnaires, observations, and structured interviews. The final product was a computer-based educational program consisting of ten separate modules, one for each particular malformation. The program was experienced as stimulating and easy to use. The appearance and quantity of the text was graded as good and the content as relevant and very useful. This is the first computer-based program developed for adults with congenitally malformed hearts. The evaluation found the program to have great potential as an important tool for improving care. Further studies are needed to test the outcomes of the program on knowledge, perceived control over the heart condition, anxiety/depression. and health-related quality of life. The program may be used as a complement to verbal information and every adult with a congenitally malformed hearts can receive individualized information from a personal CD.

  10. [Imaging and audiology analysis of the congenital inner ear malformations].

    Science.gov (United States)

    Zhou, Bao; Lin, Shaolian; Lin, Youhui; Fang, Zheming; Ye, Shengnan; Zhang, Rong

    2015-11-01

    To investigate imaging and audiology features of temporal bone and analyze the classification and prevalence of inner ear abnormalities in children with sensorineural hearing loss. Children who were diagnosed with sensorineural hearing loss were examined by high resolution CT and the inner ear fluid of MRI. And each chart was retrospectively reviewed to determine the imaging and audiology features. There were 125 patients(232 ears) found with inner ear malformation in 590 children with SNHL. About 21.71% of the inner ear malformation occurred in severe and profound hearing loss ears, and 12.85% occurred in r moderate hearing loss ears. The inner ear malformation rate in normal hearing ears were 13.59%. CT and MRI examinations of temporal bone are important diagnostic tools to indentify inner ear malformations. Inner ear malformations are almost bilateral and hearing loss are profoud. Cochleo-vestibular malformations and large vestibular aqueduct are the 2 most frequent deformities. Among the children with SNHL, deformity rate in the severe and profound hearing loss ears is higher than that in moderate hearing loss ear. Inner ear malformations can exist in people with normal hearing.

  11. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

    Science.gov (United States)

    Tokita, Mari J; Braxton, Alicia A; Shao, Yunru; Lewis, Andrea M; Vincent, Marie; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Latypova, Xénia; Bézieau, Stéphane; Liu, Pengfei; Motter, Connie S; Melver, Catherine Ward; Robin, Nathaniel H; Infante, Elena M; McGuire, Marianne; El-Gharbawy, Areeg; Littlejohn, Rebecca O; McLean, Scott D; Bi, Weimin; Bacino, Carlos A; Lalani, Seema R; Scott, Daryl A; Eng, Christine M; Yang, Yaping; Schaaf, Christian P; Walkiewicz, Magdalena A

    2016-09-01

    SON is a key component of the spliceosomal complex and a critical mediator of constitutive and alternative splicing. Additionally, SON has been shown to influence cell-cycle progression, genomic integrity, and maintenance of pluripotency in stem cell populations. The clear functional relevance of SON in coordinating essential cellular processes and its presence in diverse human tissues suggests that intact SON might be crucial for normal growth and development. However, the phenotypic effects of deleterious germline variants in SON have not been clearly defined. Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies.

  12. Large congenital cystic asdenomatous malformation of the lung in a newborn

    Directory of Open Access Journals (Sweden)

    İlyas Yolbaş

    2013-12-01

    Full Text Available Congenital cystic adenomatous malformation (CCAM oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatment

  13. Detection of congenital uterine malformation by using transvaginal three-dimensional ultrasound.

    Science.gov (United States)

    Yu, Li-Li; Zhang, Xuan; Zhang, Ting; Chen, Han-Rong; Wang, Ze-Hua

    2014-10-01

    This study assessed the clinical application of transvaginal three-dimensional ultrasound (3D TVUS) in the diagnosis of congenital uterine malformation. A retrospective study was performed on 62 patients with congenital uterine malformation confirmed hysteroscopically and/or laparoscopically. The patients were subjected to transvaginal two-dimensional ultrasound (2D TVUS) and 3D TVUS. The accuracy rate was compared between the two methods. The accuracy rate of 3D TVUS was (98.38%, 61/62), higher than that of 2D TVUS (80.65%, 50/62). 3D TVUS coronal plane imaging could demonstrate the internal shape of the endometrial cavity and the external contour of the uterine fundus. It allowed accurate measurement on the coronary plane, and could three-dimensionally show the image of cervical tube, thereby providing information for the diagnosis of some complex uterine malformation. 3D TVUS imaging can obtain comprehensive information of the uterus malformation, and it is superior to 2D TVUS for the diagnosis of congenital uterine malformations, especially complex uterine anomaly.

  14. Intrauterine exposure to carbamazepine and specific congenital malformations : systematic review and case-control study

    NARCIS (Netherlands)

    Jentink, Janneke; Dolk, Helen; Loane, Maria A.; Morris, Joan K.; Wellesley, Diana; Garne, Ester; de Jong-van den Berg, Lolkje

    2010-01-01

    Objective To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy. Design A review of all published cohort studies to identify key indications and a population based case-control study to test these indications. Setting Review of P

  15. Prevalence and factors associated with congenital malformations in Tirana, Albania, during 2011-2013

    NARCIS (Netherlands)

    Çanaku, D.; Toçi, E.; Roshi, E.; Burazeri, G.

    2014-01-01

    AIM: Congenital Malformations (CMs) represent a challenge especially for developing countries. Data about CMs in Albania are rather scarce. In this context, our aim was to assess the prevalence and factors associated with CMs in Tirana, the capital of Albania. METHODS: Information on all CMs at birt

  16. Dyssynergic defecation may aggravate constipation : results of mostly pediatric cases with congenital anorectal malformation

    NARCIS (Netherlands)

    van Meegdenburg, Maxime M.; Heineman, Erik; Broens, Paul M. A.

    2015-01-01

    BACKGROUND: Most patients with congenital anorectal malformation suffer from mild chronic constipation. To date, it is unclear why a subgroup of patients develops a persistent form of constipation. Because dyssynergic defecation is a common cause of constipation in the general population, we hypothe

  17. Congenital Vertebral Malformations In French Bulldogs: X-Ray Vs Computed Tomography

    Directory of Open Access Journals (Sweden)

    Lucia Madalina CORLAT

    2017-05-01

    Full Text Available Congenital vertebral malformations of the thoracolumbar area can have an important impact in the clinical evolution of French Bulldogs due to the instability it creates at the spinal level. The aim of this study is to show the differences between x-ray and CT scans in vertebral malformations of the French Bulldog. CT scans can offer a higher degree of certainty in the diagnosis of congenital vertebral malformations of the dogs. The VR model can offer a more thorough evaluation of the existing modifications of the vertebral body, allowing the examiner to circumvent the superposition effect than can be observed in the x-ray views and offering the chance to evaluate whether there is scoliosis or kyphosis present.

  18. Pediatric primary lung adenocarcinoma in the absence of congenital pulmonary airway malformation.

    Science.gov (United States)

    Guddati, Achuta K; Marak, Creticus P

    2012-12-01

    Primary lung adenocarcinoma is a rare entity in the pediatric population, especially in the absence of an underlying congenital pulmonary airway malformation. Primary lung malignancies in pediatric patients are rare and constitute 0.2% of all childhood malignancies. EGFR mutations and congenital airway malformations have been identified as etiological factors in the development of precancerous lesions that eventually progress to malignancy. The availability of genome sequencing and advanced imaging has made it possible to associate primary lung adenocarcinoma with mutations and structural malformations. Early diagnosis with the help of these techniques may result in surgical resection during early stages of the disease and possibly provide definitive treatment. Development of lung adenocarcinoma in pediatric patients in the absence of the above factors has been recorded anecdotally. It is possible that these patients may harbor a yet unknown set of mutations and recording this cases and preserving their tissues is of vital importance in the detection of these yet unknown etiologies.

  19. Trimethoprim Use prior to Pregnancy and the Risk of Congenital Malformation

    DEFF Research Database (Denmark)

    Andersen, Jon Trærup; Petersen, Morten; Jimenez-Solem, Espen;

    2013-01-01

    (OR) of major congenital malformation was 1.87, 95% confidence interval (CI) 1.25-2.81. There was a significant increase in major malformations of the heart (OR = 2.49; 1.18-5.26) and limbs (OR = 2.18; 1.13-4.23). Conclusions. In this study, we found an association between exposure to trimethoprim...... during the 12 weeks before conception and an increased risk of heart and limb defects.......Objectives. The aim of the study was to investigate whether the use of the antifolate antibiotic trimethoprim during the 12 weeks before conception was associated with congenital malformations. Methods. We conducted a nationwide register-based cohort study including all Danish women giving birth...

  20. Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome

    Directory of Open Access Journals (Sweden)

    Schmidt D

    2010-02-01

    Full Text Available Abstract Purpose Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome. Methods MRI and cerebral angiography. Results In a 36-year-old man, magnetic resonance im aging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. Additional congenital deficits in this patient were described. Conclusion Patients with retinal arteriovenous malformations should be early examined with neuroradiological methods.

  1. multiple congenital skeletal malformations in a associated with ...

    African Journals Online (AJOL)

    There were multiple skeletal malformations which included brachygnathia, arthrogryposis and ... Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause ... subsequent pregnancies are envisaged. ... veterinarian to deliver a dead lamb that ... difficult to understand why only one of the.

  2. Antidepressant exposure during early pregnancy and congenital malformations

    DEFF Research Database (Denmark)

    Pedersen, Lars Henning

    are reassuring, however, an association with heart malformations has been suggested for e.g. paroxetine. A potential biological explanation will be reviewed. The potential teratogenic potential of antidepressants needs to be balanced against the obvious problems associated with under-treated maternal depression...

  3. Congenital malformations of the brain: Pathological, embryological, clinical, radiological, and genetic aspects

    Energy Technology Data Exchange (ETDEWEB)

    Norman, M.G.; McGillivray, B.; Kalousek, D.K.; Hill, A.; Poskitt, K.

    1995-12-31

    Although I can quibble with the treatment of a few topics, this is by far the best book ever written on human brain malformations. The senior author has studied the pathology of human brain malformations throughout her career and has strengthened the book greatly by seeking coauthors to help with critical areas such as brain imaging, clinical management, and, especially, genetics.

  4. Management of prenatally diagnosed congenital malformations--actual problems and the importance of an interdisciplinary team approach.

    Science.gov (United States)

    Stauffer, U G

    1986-01-01

    Today's methods of prenatal diagnosis, i.e., ultrasound, amniocentesis, and fetoscopy, allow for early recognition of abnormalities in the fetus. Trials of surgery on human fetuses are widely discussed in scientific as well as lay journals; they are accepted with enthusiasm by some and severely criticized as unethical by others. This report deals with the modern concepts of prenatal diagnosis and possible therapy in the light of current general social context. Some of the arising controversies and ethical problems are shown. The consequences of prenatal diagnosis of congenital malformations of the fetus are separately discussed with reference to the mother, the family, and society on one side and to the fetus itself on the other. The practical question of whether the fetus is already a person or not is seen against its historical, religious, and philosophical background. The necessity for an interdisciplinary team approach in dealing with mothers bearing malformed children--i.e., cooperation of obstetricians, pediatric surgeons, neonatologists, geneticians, neurologists, etc.--is stressed, and the contribution of the pediatric surgeon within this team is discussed in detail, with practical examples given. The present status of intrauterine therapy is summarized and critically evaluated. Finally, an example is given of the ideal team approach in a case of prenatally diagnosed congenital cystic adenomatoid malformation with a successful outcome and long-term survival.

  5. Neonatal health including congenital malformation risk of 1072 children born after vitrified embryo transfer.

    Science.gov (United States)

    Belva, F; Bonduelle, M; Roelants, M; Verheyen, G; Van Landuyt, L

    2016-07-01

    Does vitrification of Day 3 and Day 5 embryos adversely affect birth outcomes of singletons and twins in comparison with peers born after fresh embryo transfer? Neonatal health parameters, including the prevalence of congenital malformations, in singletons and twins born after embryo vitrification are similar to or slightly better than after fresh embryo transfer. Although vitrification, rather than slow-freezing, of embryos is routine practice nowadays, convincing evidence regarding the safety for the offspring is sparse. Literature data comprise results from mostly small-sized studies or studies including only Day 3 or only Day 5 vitrified embryo transfers. Overall, better or comparable perinatal outcomes, in terms of higher birthweight and lower risk for small-for-gestational age or for low birthweight, have been reported for singletons born after vitrified embryo transfer compared with fresh embryo transfer. According to the single available study with sufficient sample size, the congenital malformation rate was found to be comparable after vitrified and fresh embryo transfers. Data were collected from 960 cycles after transfer of embryos vitrified on Day 3 (n = 457) or Day 5 (n = 503) and from 1644 cycles after fresh embryo transfer on Day 3 (n = 853) or Day 5 (n = 791), performed between 2008 and 2013 at the Centre for Reproductive Medicine of the university hospital UZ Brussel. Outcome measures were neonatal health in terms of birthweight, small-for-gestational age, prematurity rate, perinatal death and major/minor/total malformation rate. Perinatal health parameters of 11 stillborns and 1061 live borns (827 singletons and 234 twins) in the vitrified group and of 28 stillborns and 1838 live borns (1374 singletons and 464 twins) in the fresh embryo group are reported. Within 3 months after birth, children in the two study groups were assessed clinically with special attention to congenital malformations by a paediatrician blinded to the type of embryo

  6. Congenital malformations in a fetus and a newborn according to the data of Perinatal Center of the Saratov region

    Directory of Open Access Journals (Sweden)

    Chernenkov Yu.V.

    2016-09-01

    Full Text Available The aim: to study the frequency of birth defects in Perinatal Center of the Saratov region from 2014 till 2015, the possibility of prognosing, early diagnosis and optimization of programs for the prevention and correction of congenital malformations, the evaluation of treatment outcomes. Materials and Methods. The study included newborn babies and fetuses with birth defects for the period 2014-2015 according to data received from Perinatal Center. The data on ultrasound examination of pregnant women and about 149 fetuses with malformations in case of early terminated pregnancies were analyzed. Results. In 2014 Perinatal Center of the Saratov region found 77 newborns with congenital malformations, in 2015-72; 24 children (16.1% required early surgical intervention. The comprehensive assessment of the health status of women and their children, the assessment of placental blood flow and fetal development, the identification of chromosomal and genetic abnormalities were conducted. 5 children of 149 children with congenital malformations died at the stage of the maternity hospital where average mortality accounted for 3.3%. Congenital malformations of central nervous system and sense organs accounted for 13.4%, malformations of the face and neck — 5.4%, malformations of the cardiovascular system — 28.8%, malformations of the respiratory system — 2.7%, malformations of the gastrointestinal tract — 4%, malformations of the musculoskeletal system — 9.4%, malformations of the urinary system — 27.5%, genital malformations — 4%, defects of the skin and its appendages — 1.3%, other malformations — 2.7%. Multiple malformations accounted for 4.7%. During 2014-2015 due to congenital malformations 311 births (4.4% were interrupted, the main cause was determined as chromosomal abnormalities. Training, diagnosis, management of pregnant women and their delivery is carried out in Perinatal Center of the Saratov region in accordance with the

  7. Fetal magnetic resonance imaging. Diagnostics in cases of congenital cystadenomatoid malformation; Fetale Magnetresonanztomographie. Diagnostik bei zystadenomatoider Malformation der Lunge (CCAM)

    Energy Technology Data Exchange (ETDEWEB)

    Buesing, K.A.; Kilian, A.K.; Neff, K.W. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Institut fuer Klinische Radiologie, Universitaetsklinikum Mannheim, Mannheim (Germany); Schaible, T. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Kinderklinik, Universitaetsklinikum Mannheim, Mannheim (Germany)

    2006-02-15

    Despite advancing therapeutic strategies, congenital cystadenomatoid malformation of the fetal lung is still a potentially life-threatening anomaly. Antenatally, the development of hydrops as well as the natural history of the malformation is of particular therapeutic and prognostic importance. Postnatally, respiratory distress due to pulmonary hypoplasia counts as a crucial limiting factor. Owing to its feasibility and practicability, as well as a high sensitivity, antenatal ultrasound is still the screening method of choice for the detection of fetal thoracic malformations. However, particularly in cases of indistinguishable sonographic findings, fetal MRI is the modality of choice for proving the diagnosis and preliminary appraisal of intensive care therapy and extracorporal membrane oxygenation postnatally. Furthermore, fetal MRI often facilitates assessment and planning of intrauterine surgical procedures. These two features frequently require a close transfer to an expert neonatal centre. (orig.) [German] Trotz verbesserter Therapien stellt die kongenitale zystadenomatoide Malformation der Lunge fuer den Feten weiterhin eine potenziell lebensbedrohliche Missbildung dar. Praenatal sind insbesondere ein Hydrops fetalis sowie der Spontanverlauf von prognostischer und therapeutischer Relevanz. Postnatal kommt der Lungenhypoplasie eine entscheidende Bedeutung zu. Aufgrund der hohen Verfuegbarkeit und Sensitivitaet bleibt die Primaerdiagnostik weiterhin dem Ultraschall vorbehalten. Die fetale MRT hingegen hat sich insbesondere bei unklarer sonographischer Befundlage als Methode der Wahl etabliert. Neben der Diagnosesicherung erleichtert sie durch eine uebersichtliche Darstellung der Befundausdehnung haeufig die Abschaetzung einer postnatalen Intensivtherapie. Mit zunehmender Erfahrung beim Einsatz fetalchirurgischer Verfahren kommt ihr ferner eine wachsende Bedeutung in der Indikationsstellung und Planung praenataler Therapien zu. Beides erfordert u. U. die

  8. [Congenital malformations in autopsy from the years 1986-1990 of children up to 1 year of age in the region of North-East Poland].

    Science.gov (United States)

    Sulkowski, S; Dziecioł, J; Sulkowska, M; Sobaniec-Lotowska, M; Kemona, A; Musiatowicz, B

    1992-01-01

    The authors retrospectively analysed 901 autopsy protocols of children up to 1 year in years 1986-1990. Congenital malformations were presented in 364 cases (40.4%). The most frequent anomalies were: multiple anomalies-32.7%, the cardiovascular malformations -32.1% and malformations of nervous system-22.2%. 235 (64.8%) cases of congenital malformations were presented in neonates. There was no significant difference in incidence of congenital malformations between girls and boys. The frequency of congenital anomalies in autopsy material increased from 27.5% (1976-1985) to 40.4% (1986-1990).

  9. A link between solar events and congenital malformations: Is ionizing radiation enough to explain it?

    CERN Document Server

    Overholt, A C; Atri, D

    2015-01-01

    Cosmic rays are known to cause biological effects directly and through ionizing radiation produced by their secondaries. These effects have been detected in airline crews and other specific cases where members of the population are exposed to above average secondary fluxes. Recent work has found a correlation between solar particle events and congenital malformations. In this work we use the results of computational simulations to approximate the ionizing radiation from such events as well as longer term increases in cosmic ray flux. We find that the amounts of ionizing radiation produced by these events are insufficient to produce congenital malformations under the current paradigm regarding muon ionizing radiation. We believe that further work is needed to determine the correct ionizing radiation contribution of cosmogenic muons. We suggest that more extensive measurements of muon radiation effects may show a larger contribution to ionizing radiation dose than currently assumed.

  10. Congenital cystic adenomatoid malformation of the lung: hazards of delayed diagnosis.

    LENUS (Irish Health Repository)

    Collins, Anne M

    2012-02-01

    Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.

  11. 3D virtual rendering in thoracoscopic treatment of congenital malformation of the lung

    Directory of Open Access Journals (Sweden)

    Destro F.

    2013-10-01

    Full Text Available Introduction: Congenital malformations of the lung (CML are rare but potentially dangerous congenital malformations. Their identification is important in order to define the most appropriate management. Materials and methods: We retrospectively reviewed data from 37 patients affected by CML treated in our Pediatric Surgery Unit in the last four years with minimally invasive surgery (MIS. Results: Prenatal diagnosis was possible in 26/37 patients. Surgery was performed in the first month of life in 3 symptomatic patients and between 6 and 12 months in the others. All patients underwent radiological evaluation prior to thoracoscopic surgery. Images collected were reconstructed using the VR render software. Discussion and conclusions: Volume rendering gives high anatomical resolution and it can be useful to guide the surgical procedure. Thoracoscopy should be the technique of choice because it is safe, effective and feasible. Furthermore it has the benefit of a minimal access technique and it can be easily performed in children.

  12. Unnatural history of the right ventricle in patients with congenitally malformed hearts.

    Science.gov (United States)

    Lopez, Leo; Cohen, Meryl S; Anderson, Robert H; Redington, Andrew N; Nykanen, David G; Penny, Daniel J; Deanfield, John E; Eidem, Benjamin W

    2010-12-01

    The long-term outcome of patients with congenitally malformed hearts involving abnormal right ventricular morphology and haemodynamics is variable. In most instances, the patients are at risk for right ventricular failure, in part due to morphological differences between the right and left ventricles and their response to chronic volume and pressure overload. In patients after repair of tetralogy of Fallot, and after balloon valvotomy for valvar pulmonary stenosis, pulmonary regurgitation is the most significant risk factor for right ventricular dysfunction. In patients with a dominant right ventricle after Fontan palliation, and in those with systemic right ventricles in association with surgically or congenitally corrected transposition, the right ventricle is not morphologically capable of dealing with chronic exposure to the high afterload of the systemic circulation. In patients with Ebstein's malformation of the tricuspid valve, the degree of atrialisation of the right ventricle determines how well the right ventricle will function as the pump for the pulmonary vascular bed.

  13. The incidence of congenital malformations and variations in Göttingen minipigs.

    Science.gov (United States)

    Ellemann-Laursen, S; Marsden, E; Peter, B; Downes, N; Coulby, D; Grossi, A B

    2016-09-01

    Knowledge of the incidence of spontaneous congenital abnormalities is critical for the accurate interpretation of findings in teratogenicity studies in any species. In this paper, results of the examination of 1739 neonatal Göttingen Minipigs are presented. Over the 2-year period under consideration, the incidence of external and visceral malformations was less than 0.2 and 0.1%, respectively. The most common external malformations were syndactyly, limb hyperflexion, domed head and scoliosis. The most common internal malformations were undescended testes, ventricular septal defect, diaphragmatic hernia and atrial septal defects. Pentadactyly and variation in the aortic arch's bifurcation (absent truncus bicaroticus) were the most common variations. These data will help support the use of the Göttingen Minipig as a non-rodent species in embryofetal development studies where concerns persist about the availability of background data.

  14. CORRECTIVE SURGERY OF CONGENITAL SCOLIOSIS WITH TYPE Ⅱ SPLIT SPINAL CORD MALFORMATION

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Objective To investigate the corrective results of congenital scoliosis with type Ⅱ split spinal cord malformation. Methods By reviewing the medical records and roentgenograms of congenital scoliosis patients with type Ⅱ split spinal cord malformation that underwent corrective surgery, septum location and length, curve type, coronal and sagittal Cobb's angles, apical vertebral rotation and translation, and trunk shift were measured and analyzed. Results A total of 23 congenital scoliosis patients with type Ⅱ split spinal cord malformation were studied, 6 cases were due to failure of segmentation, 8 cases due to failure of formation, and the remaining 9 cases due to mixed defects. The fibrous septums were located in the thoracic spine in 8 patients, lumbar spine in 4 patients, thoracic and lumbar spine in 10 patients, and from cervical to lumbar spine in 1 patient. The septum extended an average of 4. 9 segments. Corrective surgeries included anterior correction with instrumentation in 2 patients, posterior correction with instrumentation in 11 patients, anterior release and posterior correction with instrumentation in 6 patients, anterior and posterior resection of the hemivertebra and posterior correction with instrumentation in 4 patients. The pre- and postoperative coronal Cobb's angles, apical vertebral translations, apical vertebral rotations, trunk shifts were 61.9° and 32. 5° ( P < 0. 001 ), 48. 9 mm and 31.5 mm ( P <0. 001 ), 1.2 and 1.1, 12. 7 mm and 8.2 mm, respectively. The average correction rate of coronal Cobb's angle was 47. 5%.The sagittal balance was also well improved. The fibrous septums were all left in situ. There was no neurological complication. Conclusion For congenital scoliosis with type Ⅱ split spinal cord malformation, positive correction results with no neurological complication may be obtained without resection of the fibrous septum.

  15. Antiepileptic drugs prescribed in pregnancy and prevalence of major congenital malformations: comparative prevalence studies

    Science.gov (United States)

    Petersen, Irene; Collings, Shuk-Li; McCrea, Rachel L; Nazareth, Irwin; Osborn, David P; Cowen, Phil J; Sammon, Cormac J

    2017-01-01

    Objective The aim of this study was to examine the prevalence of major congenital malformations associated with antiepileptic drug (AED) treatment in pregnancy. Patients and methods Using data from The Health Improvement Network, we identified women who have given live birth and their offspring. Four subgroups were selected based on the AED treatment in early pregnancy, valproate, carbamazepine, lamotrigine and women not receiving AED treatment. We compared the prevalence of major congenital malformations within children of these four groups and estimated prevalence ratios (PRs) using Poisson regression adjusted for maternal age, sex of child, quintiles of Townsend deprivation score and indication for treatment. Results In total, 240,071 women were included in the study. A total of 229 women were prescribed valproate in pregnancy, 357 were prescribed lamotrigine and 334 were prescribed carbamazepine and 239,151 women were not prescribed AEDs. Fifteen out of 229 (6.6%) women prescribed valproate gave birth to a child with a major congenital malformation. The figures for lamotrigine, carbamazepine and women not prescribed AEDs were 2.7%, 3.3% and 2.2%, respectively. The prevalence of major congenital malformation was similar for women prescribed lamotrigine or carbamazepine compared to women with no AED treatment in pregnancy. For women prescribed valproate in polytherapy, the prevalence was fourfold higher. After adjustments, the effect of estimates attenuated, but the prevalence remained two- to threefold higher in women prescribed valproate. Conclusion The results of our study suggest that lamotrigine and carbamazepine are safer treatment options than valproate in pregnancy and should be considered as alternative treatment options for women of childbearing potential and in pregnancy. PMID:28243149

  16. Complex Genital Malformation in a Female with Congenital Adrenal Hyperplasia: Evaluation with Magnetic Resonance Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Klessen, C.; Asbach, P.; Hein, P. A.; Beyersdorff, D.; Hamm, B.; Taupitz, M. [Humboldt-Univ. of Berlin, Campus Charite Mitte (Germany). Dept. of Radiology

    2005-12-01

    This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence.

  17. Congenital Malformations of the Inner Ear: Case Series and Review of the Literature.

    Science.gov (United States)

    Piromchai, Patorn; Kasemsiri, Pornthep; Thanawirattananit, Panida; Yimtae, Kwanchanok

    2015-08-01

    Patients with craniofacial anomalies often present to doctors due to their noticeable disfigurement and are routinely assessed by otolaryngologists for hearing evaluation. However, small percentage of craniofacial anomaly patients may present with delayed speech though they may not have initial obvious external deformation. The objective of case series is to identify the congenital inner ear malformation. The series of clinical presentation, physical examination, investigations, treatments and follow-up results were demonstrated followed by the discussion.

  18. [Severe mental illness in mothers and congenital malformations in newborns: a meta-analysis].

    Science.gov (United States)

    Pereira, Priscila Krauss; Lima, Lúcia Abelha; Magnanini, Mônica Maria Ferreira; Legay, Leticia Fortes; Lovisi, Giovanni Marcos

    2011-12-01

    The risk of congenital malformations appears to be higher in infants of mothers with mental disorders as compared to those of mothers with no history of psychiatric illness. This article presents a meta-analysis of studies on the association between maternal mental illness and congenital malformations. The review consisted of an article search in the MEDLINE, ISIWEB, Scopus, and SciELO databases, using the following key words: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". A total of 108 studies were identified, and five articles were selected according to the established criteria. These articles were included in a meta-analysis, involving a total of 4,194 children of mothers with mental illness and 249,548 children of mothers with no such disorders. Pooled relative risk showed a significant association between exposure to mental illness in mothers and risk of malformations in newborns (RR = 2.06, 95%CI: 1.46-2.67). The study highlights the relationship between maternal mental health during pregnancy and its effects on the infant's health.

  19. A STUDY ON INCIDENCE OF VARIOUS SYSTEMIC CONGENITAL MALFORMATIONS AND THEIR ASSOCIATION WITH MATERNAL FACTORS

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    Sumit Gupta

    2012-02-01

    Full Text Available Objectives: To study the overall and individual incidence of clinically detectable congenital malformations in newborns delivered at a tertiary hospital and to find out the associated maternal factors. Methodology: The present study is a prospective study of all the newborns delivered at Obstetrics and Gynecology Department, SSG Hospital, Baroda for a period of one year in which total 4058 consecutively born babies were examined for all visible structural anomalies and associated maternal factors were studied. Results: Incidence of malformed babies was 1.53% (62 malformations out of 4058 babies of which the anomalies of CNS were the most frequent .In associated maternal factors, anaemia and diabetes were found to be relevant. Conclusion: The incidence of congenital anomalies of CNS was highest amongst all types of congenital anomalies (neural tube defects being the commonest. More stress should be laid on prevention by regular antenatal care and avoidance of known teratogens and probable teratogenic agents. [National J of Med Res 2012; 2(1.000: 19-21

  20. Peculiarities of surgical treatment of gastrointestinal tract combined congenital malformations in newborns

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    М. О. Makarova

    2017-04-01

    Full Text Available Congenital gastrointestinal (GI malformations make up 21–25 % of all congenital anomalies and require surgical correction in the neonatal period. The aim was to analyze the methods of operative treatment of hard composite congenital gastrointestinal malformations in infants. Materials and Methods: There were 13 newborns with gastroschisis, omphalocele and esophageal atresia combined with intestinal atresia, anal atresia and also with congenital heart defects in our study. Results. We have designed new preoperative care strategies for the newborns. All combined GI defects were corrected in one step. In gastroschisis and omphalocele in combination with small intestine atresia we made a plastic of anterior abdominal wall, bowel segment resection and anastomosis end-to-end. In esophageal atresia and atresia of the anus direct esophago-esophagoanastomosis was applied with suturing of tracheoesophageal fistula, also in two patients proctoplasty by Pena 2 was carried out, and in one patient with high anal atresia colostomy was applied, which was closed in the age of 6 months. In case of esophageal atresia combined with small intestine atresia direct esophago-esophagoanastomosis with tracheoesophageal fistula suturing was carried out, and resection of the bowel segment with anastomosis end-to-end was applied. In a patient with a combination of esophageal atresia and duodenal obstruction esophagoplasty and closure of tracheoesophageal fistula with anastomosis by Kimur was made. Preference was given to the combined anesthesia with neuraxial blockade. Postoperative care included prolonged artificial lung ventilation, anesthesia, parenteral nutrition, antibacterial and antifungal medicines. Conclusions. One-step correction of the congenital GI malformations in newborns is effective and it gives opportunity to achieve the best results with a single surgical intervention. Extremely important links of the combined GI defects therapy is timely and balanced

  1. Congenital malformations and genetic diseases in comic books.

    Science.gov (United States)

    Mégarbané, A; Adib, S M

    2003-01-01

    Medical syndromes have often been represented in fine arts, but rarely have clinical diagnoses been discussed in comic book characters. Since their first appearance in Europe in the middle of the 19th century and in America in 1895, comic books have been considered as "the 9th art". In many comic books, the appearance and/or the behavior of central or support characters are suggestive of already well-defined medical disorders. The representation of five particular groups or clinical features: mental retardation, abnormal stature, abnormal hair, obesity, and cranial malformations is discussed from mostly European comic series. Whether comic authors intended to describe specific clinical entities while drawing their characters or whether such situations appeared by mere luck, is open to debate. In many series from the first half of the 20th century characters with remarkable clinical features were also painted as psycho-social deviants. Such stereotypes are found much less frequently nowadays. Writers of comic books, realizing the major impact of their work especially in adolescent age groups, have increasingly been using their series to actually promote issues of equity and well being for physically or mentally impaired people.

  2. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2006-07-15

    The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

  3. Diagnosis of Congenital Heart Malformations – Possibilities for the Employment of Telepathology

    Directory of Open Access Journals (Sweden)

    Cornelia Tennstedt

    2000-01-01

    Full Text Available Goal: In a study of 10 autopsy cases with congenital cardiac malformations we investigated whether obtaining a second opinion by means of telepathology could satisfy quality standards for the diagnosis of cardiac malformations and what the advantages and disadvantages of such a procedure might be. Material: The investigatory samples were 10 formalin‐fixed hearts with complex malformations from 9 fetuses and one newborn on which autopsies had been performed at the Pathological Institute of the Charité Hospital. The requests for a second opinion, which included text and image data, were sent in the form of Microsoft PowerPoint presentations to 5 experts in 4 countries. Per case the number of images that were sent was between 3 and 7. The size of the files was between 439 and 942 kb. The time required for preparation of the cases for sending them to the specialists was between 1 and 2 hours: this encompassed the time for putting the notation on the images, compressing them, creating a file that included both the images and the clinical data and then sending the case file. Results: All 10 cardiac malformations were correctly identified. In 8 of the 10 cases at least one expert had questions. After these questions had been answered and further images had been sent final correct diagnoses were made in all cases. All experts said that the quality of the images was very good. Use of a standardized findings questionnaire, which also included the marking of anatomic structures and of pathological findings in the images, proved useful. Standardized findings forms facilitate orientation during interpretation of the cases and should be used generally to avoid misunderstandings in telepathological communication. Conclusions: In general it is possible to obtain an effective and reliable diagnosis of congenital heart malformations by means of telepathology. It is far quicker to get a second opinion by this means than by conventional means.

  4. The role of the pediatrician in preventing congenital malformations.

    Science.gov (United States)

    Brent, Robert L

    2011-10-01

    • The development of new knowledge and new diagnostic techniques and technology as well as the sophistication of epidemiology studies and maturation of the fields of clinical genetics and clinical teratology have revolutionized the field of reproductive and developmental biology.• Advances have enabled physicians and scientists to determine the causes of developmental abnormalities and, therefore, discover methods of prevention. The process of evaluation is based on the knowledge base developed over the past 50 years.• Although genetic abnormalities are responsible for a significant proportion of reproductive and developmental deleterious effects, a larger proportion of these effects are due to unknown causes.• Environmental causes are less frequent, although many of the environmental effects as well as many of the genetic effects can be prevented through genetic counseling and preconceptual planning. Effective treatment and amelioration of developmental effects also have improved.• More than 50 environmental drugs, chemicals, maternal diseases, infections, nutritional abnormalities, and physical agents can affect reproduction deleteriously and result in CMs.Theoretically, all these causes are preventable.• Throughout the developing world, the addition of folic acid and iodine could prevent tens of thousands of birth defects and developmental abnormalities.• In the United States, the opportunity for prevention can be introduced at the population level and by addressing individual patients’ clinical problems.• If a mother of a malformed infant had some type of exposure during pregnancy, such as a diagnostic radiologic examination or medication, the consulting physician should not support or suggest the possibility of a causal relationship before performing a complete evaluation. If a pregnant woman who has not yet delivered had some type of exposure during pregnancy, the consulting physician should not support or suggest the possibility that the

  5. Evidence that Cache Valley virus induces congenital malformations in sheep.

    Science.gov (United States)

    Chung, S I; Livingston, C W; Edwards, J F; Crandell, R W; Shope, R E; Shelton, M J; Collisson, E W

    1990-02-01

    An outbreak of congenital abnormalities occurred in sheep at San Angelo, Texas, between December 1986 and February 1987. Of 360 lambs born, 19.2% had arthrogryposis or other musculo-skeletal problems and hydranencephaly (AGH), and the total neonatal loss was 25.6%. In 1987, all ewes that were tested with AGH lambs had antibody to Cache Valley virus (CVV), whereas 62% of the ewes with normal lambs had CVV-specific antibody. Pre-colostral serum samples from AGH lambs had neutralizing antibody to CVV. An increase in prevalence of CVV-specific antibody, from 5% during the spring of 1986 to 63.4% during the winter of 1987, occurred during a time that included the gestation of these affected lambs, as well as a period of increased rainfall. The isolation of a CVV-related strain from a sentinel sheep in October 1987 confirmed the continued presence of this virus in the pasture where this outbreak occurred and provided a recent field strain for future studies.

  6. Malformations of the tooth root in humans

    Directory of Open Access Journals (Sweden)

    Hans Ulrich eLuder

    2015-10-01

    Full Text Available The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on

  7. Loss of col8a1a function during zebrafish embryogenesis results in congenital vertebral malformations.

    Science.gov (United States)

    Gray, Ryan S; Wilm, Thomas P; Smith, Jeff; Bagnat, Michel; Dale, Rodney M; Topczewski, Jacek; Johnson, Stephen L; Solnica-Krezel, Lilianna

    2014-02-01

    Congenital vertebral malformations (CVM) occur in 1 in 1000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles ((m531, vu41, vu105)) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue.

  8. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

    Directory of Open Access Journals (Sweden)

    Laura A. Runck

    2014-04-01

    Full Text Available Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations

  9. Notch receptor expression in human brain arteriovenous malformations.

    Science.gov (United States)

    Hill-Felberg, Sandra; Wu, Hope Hueizhi; Toms, Steven A; Dehdashti, Amir R

    2015-08-01

    The roles of the Notch pathway proteins in normal adult vascular physiology and the pathogenesis of brain arteriovenous malformations are not well-understood. Notch 1 and 4 have been detected in human and mutant mice vascular malformations respectively. Although mutations in the human Notch 3 gene caused a genetic form of vascular stroke and dementia, its role in arteriovenous malformations development has been unknown. In this study, we performed immunohistochemistry screening on tissue microarrays containing eight surgically resected human brain arteriovenous malformations and 10 control surgical epilepsy samples. The tissue microarrays were evaluated for Notch 1-4 expression. We have found that compared to normal brain vascular tissue Notch-3 was dramatically increased in brain arteriovenous malformations. Similarly, Notch 4 labelling was also increased in vascular malformations and was confirmed by western blot analysis. Notch 2 was not detectable in any of the human vessels analysed. Using both immunohistochemistry on microarrays and western blot analysis, we have found that Notch-1 expression was detectable in control vessels, and discovered a significant decrease of Notch 1 expression in vascular malformations. We have demonstrated that Notch 3 and 4, and not Notch 1, were highly increased in human arteriovenous malformations. Our findings suggested that Notch 4, and more importantly, Notch 3, may play a role in the development and pathobiology of human arteriovenous malformations.

  10. Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome).

    Science.gov (United States)

    Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

    2014-01-01

    Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: - - Clinical Procedure: - Specialty: Otolaryngology. Congenital defects. Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). DISTURBED ARTICULATION WAS DIAGNOSED: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed.

  11. Nonsurgical treatment of congenital vascular malformations of the trunk and limb by transcatheter embolization

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jae Hyung; Choi, Dae Seob; Han, Joon Koo; Chung, Jin Wook; Han, Moon Hee; Goo, Jin Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1994-01-15

    We evaluated the effectiveness of embolization in the management of congenital vascular malformations(CVMs). A retrospective analysis was performed in 10 patients who underwent embolotherapy for their soft tissue CVMs(eight arteriovenous malformations, one hemangioma, one venous malformation) involving the extremity or back. In nine patients, intraarterial embolization was performed with multiple embolic agents including Gelfoam, Ivalon, IBCA, ethanol mixed with Lipiodol, and micro-coils. In one patient with venous malformation, direct puncture and embolization of the lesion were performed with absolute ethanol mixed with Lipiodol. In four patients, who subsequently underwent surgery, preoperative embolization decreased operative morbidity and facilitated a thorough extirpation. Five of six patients with inoperable CVMs experienced dramatic reduction of symptoms by single or repeated embolization, with a mean follow-up period of four months. We believe that preoperative embolization may decrease operative morbidity and facilitate a thorough extirpation in the patients with extensive but resectable CVMs and repeated embolizations are effective for symptom control in the patients with inoperable CVMs.

  12. First-Trimester Pregnancy Exposure to Venlafaxine or Duloxetine and Risk of Major Congenital Malformations

    DEFF Research Database (Denmark)

    Lassen, Dorte; Ennis, Zandra Nymand; Damkier, Per

    2016-01-01

    and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformations after first trimester in utero exposure to venlafaxine or duloxetine. We identified eight cohort......Major depressive disorder is common among women in child-bearing age, and medical treatment is subject to substantial discussions and controversies. For Selective Serotonin reuptake inhibitors, SSRIs, a vast amount of data are available. For the newer antidepressant group of serotonin...... studies reporting on the outcome upon in utero exposure to venlafaxine or duloxetine during the first trimester. The cumulated data for venlafaxine were 3186 exposed infants and 107 major malformations, resulting in a relative risk estimate and 95% confidence interval of 1.12 (0...

  13. Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation

    DEFF Research Database (Denmark)

    da Rosa, Ernani B; Silveira, Daniélle B; Tsugami, Laís G

    2016-01-01

    BACKGROUND: Nasoethmoidal meningocele is considered an uncommon type of cephalocele, and congenital cystic adenomatoid malformation (CCAM) is a rare lung disorder characterized by overgrowth of the terminal bronchioles. CASE: We report the unusual association between a nasoethmoidal meningocele......, entirely contained into the SPATA5 gene. However, it does not seem to be associated to the clinical findings of the patient. CONCLUSION: To our knowledge, there is only one case reported in the literature showing the same association between a nasoethmoidal meningocele and CCAM. Thus, the malformations...... observed in our patient may be related to the gestational exposures. Also, we cannot rule out that the patient may present the same condition characterized by a cephalocele and CCAM described by some authors, or even an undescribed entity, because some hallmark features, such as laryngeal atresia and limb...

  14. Congenital bronchopulmonary malformations: A single-center experience and a review of literature

    Directory of Open Access Journals (Sweden)

    Kumar Basant

    2008-01-01

    Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.

  15. Congenital malformation of the vaginal orifice, imperforate vagina, in the common marmoset (Callithrix jacchus).

    Science.gov (United States)

    Niimi, Kimie; Oguchi, Ayaka; Nishio, Kenji; Okano, Yasushi; Takahashi, Eiki

    2015-03-01

    The following is a report on a congenital vaginal malformation, imperforate vagina, in the common marmoset (Callithrix jacchus). This anomaly was observed for the first time in an adult female in our research colony. There was no uterine and vaginal aplasia or atresia in her grossly normal genital tract. The plasma progesterone concentration suggested that the ovarian cycle had ceased. However, this may not be related to a functional anomaly, but rather to suppressed ovulation resulting from subordination to cagemates considering the various stages of follicular development observed.

  16. Antiepileptic drugs prescribed in pregnancy and prevalence of major congenital malformations: comparative prevalence studies

    Directory of Open Access Journals (Sweden)

    Petersen I

    2017-02-01

    Full Text Available Irene Petersen,1,2 Shuk-Li Collings,1,3 Rachel L McCrea,1 Irwin Nazareth,1 David P Osborn,4 Phil J Cowen,5 Cormac J Sammon1 1Department of Primary Care and Population Health, University College London, London, UK; 2Department of Clinical Epidemiology, Aarhus University, Aarhus N, Denmark; 3OXON Epidemiology, London, UK; 4Division of Psychiatry, University College London, London, UK; 5University Department of Psychiatry, Warneford Hospital, Oxford, UK Objective: The aim of this study was to examine the prevalence of major congenital malformations associated with antiepileptic drug (AED treatment in pregnancy.Patients and methods: Using data from The Health Improvement Network, we identified women who have given live birth and their offspring. Four subgroups were selected based on the AED treatment in early pregnancy, valproate, carbamazepine, lamotrigine and women not receiving AED treatment. We compared the prevalence of major congenital malformations within children of these four groups and estimated prevalence ratios (PRs using Poisson regression adjusted for maternal age, sex of child, quintiles of Townsend deprivation score and indication for treatment.Results: In total, 240,071 women were included in the study. A total of 229 women were prescribed valproate in pregnancy, 357 were prescribed lamotrigine and 334 were prescribed carbamazepine and 239,151 women were not prescribed AEDs. Fifteen out of 229 (6.6% women prescribed valproate gave birth to a child with a major congenital malformation. The figures for lamotrigine, carbamazepine and women not prescribed AEDs were 2.7%, 3.3% and 2.2%, respectively. The prevalence of major congenital malformation was similar for women prescribed lamotrigine or carbamazepine compared to women with no AED treatment in pregnancy. For women prescribed valproate in polytherapy, the prevalence was fourfold higher. After adjustments, the effect of estimates attenuated, but the prevalence remained two- to

  17. Congenital Malformations of the Urinary System in Infants and Syndrome of Undifferentiated Connective Tissue Dysplasia

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    N.S. Lukianenko

    2017-02-01

    Full Text Available The article presents the data on the frequency of phenotypic and clinical signs of undifferentiated connective tissue dysplasia (UCTD in infants with congenital malformations of the urinary system (CMUS complicated by pyelonephritis. The considerable incidence of connective tissue dysfunction among the examined children has been shown, especially among the children with anomalies of the renal tissue formation and differentiation. The authors draw the conclusion about the necessity of early verification of UCTD among young children with pyelonephritis against the CMUS. This will allow ground and perform metabolic correction of connective tissue dysfunction, which should raise the treatment efficiency in such children

  18. Unusual signal intensity of congenital pulmonary airway malformation on fetal magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Owada, Keiho; Miyazaki, Osamu; Nosaka, Shunsuke [National Center for Child Health and Development, Department of Radiology, Tokyo (Japan); Matsuoka, Kentaro [National Center for Child Health and Development, Department of Pathology, Tokyo (Japan); Sago, Haruhiko [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)

    2015-05-01

    Congenital pulmonary airway malformation (CPAM) is classified into pathologically different types. These types are sometimes distinguishable by fetal lung MRI and are usually observed as higher-signal lesions on T2-weighted images than normal lung. We describe a case of unusual CPAM resembling neoplasms, with a lower signal than is found in normal lung. Histopathology showed a large number of mucogenic cells but found no evidence that could explain this feature on fetal MRI. An unusual low-signal mass associated with a pulmonary cyst in fetal lung on MRI may suggest an unusual type 1 CPAM. (orig.)

  19. Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Sing, T.M.Y.S.; Wong, K.P.; Young, N. [Westmead Hospital, Westmead, NSW, (Australia). Department of Radiaology; Le, S.D.V. [Bankstown-Lidcombe Hospital, Bankstown, NSW, (Australia). Department of Nuclear Medicine and Ultrasound

    1997-08-01

    Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors). 11 refs., 7 figs.

  20. Nitrogen Dioxide pollution and hazardous household environment: what impacts more congenital malformations.

    Science.gov (United States)

    Landau, D; Novack, L; Yitshak-Sade, M; Sarov, B; Kloog, I; Hershkovitz, R; Grotto, I; Karakis, I

    2015-11-01

    Nitrogen Dioxide (NO2) is a product of fuel combustion originating mainly from industry and transportation. Studies suggest an association between NO2 and congenital malformations (CM). We investigated an independent effect of NO2 on CM by adjusting to individual factors and household environment in 1024 Bedouin-Arab pregnant women in southern Israel. This population is characterised by high rates of CMs, frequent consanguineous marriages, paternal smoking, temporary housing and usage of open fire for heat cooking. Information on household risk factors was collected during an interview. Ambient measurements of 24-h average NO2 and meteorological conditions were obtained from 13 local monitors. Median value of daily NO2 measured in the area was 6.78ppb. CM was diagnosed in 8.0% (82) of offspring. Maternal NO2 exposure during the 1st trimester >8.6ppb was significantly associated with minor CM (RR=2.68, p=0.029). Major CM were independently associated with maternal juvenile diabetes (RR=9.97, p-value=0.002) and heating by open fire (RR=2.00, p-value=0.049), but not NO2 exposure. We found that NO2 emissions had an independent impact only on minor malformations, whereas major malformations depended mostly on the household environment. Antepartum deaths were associated by maternal morbidity.

  1. Congenital malformations in experimental diabetic pregnancy: aetiology and antioxidative treatment. Minireview based on a doctoral thesis.

    Science.gov (United States)

    Simán, M

    1997-01-01

    Diabetes mellitus in pregnancy causes congenital malformations in the offspring. The aim of this work was to characterize biochemical and morphologic anomalies in the conceptus of an animal model of diabetic pregnancy. In addition, a preventive treatment against diabetes-induced dysmorphogenesis was developed. Congenital cataract was often found in the offspring of diabetic rats. The fetal lenses had increased water accumulation, sorbitol concentration and aldose reductase activity compared to control lenses. The results suggest that the cataracts form via osmotic attraction of water due to sorbitol accumulation in the fetal lens. Another set of malformations, with possible neural crest cell origin, occurred frequently in offspring of diabetic rats. These included low set ears, micrognathia, hypoplasia of the thymus, thyroid and parathyroid glands, as well as anomalies of the heart and great vessels. Furthermore, diabetes caused intrauterine death and resorptions more frequently in the late part of gestation. When the pregnant diabetic rats were treated with the antioxidants butylated hydroxytoluene, vitamin E or vitamin C, the occurrence of gross malformations was reduced from approximately 25% to less than 8%, and late resorptions from 17% to 7%. This suggests that an abnormal handling of reactive oxygen species (ROS) is involved in diabetes-induced dysmorphogenesis in vivo. Indeed, an increased concentration of lipid peroxides, indicating damage caused by ROS, was found in fetuses of diabetes rats. In addition, embryos of diabetic rats had low concentrations of the antioxidant vitamin E compared to control embryos. These biochemical alterations were normalized by vitamin E treatment of the pregnant diabetic rats. The antioxidants are likely to have prevented ROS injury in the embryos of the diabetic rats, in particular in the neural crest cells, thereby normalizing embryonic development. These results provide a rationale for developing new anti

  2. Congenital inner ear malformation: three dimensional volume rendering image using MR CISS sequence

    Energy Technology Data Exchange (ETDEWEB)

    Song, Jong Woon; Lee, In Sook; Kim, Hak Jin; Goh, Eui Kyung; Kim, Lee Suk [College of Medicine, Pusan National Univ., Pusan (Korea, Republic of)

    2003-10-01

    To evaluate three-dimensional volume-rendering of congenital inner-ear malformations using the MR CISS(Constructive Interference in Steady State) sequence. MR CISS images of 30 inner ears of 15 patients (M:F=10.5; mean age, 6.5years) in whom inner-ear malformation was suspected were obtained using a superconducting Magnetom Vision System (Simens, Erlangen, Germany), with TR/TE/FA parameters of 12.25 ms/5.9 ms/70.deg.. The images obtained were processed by means of the volume rendering technique at an advanced workstation (Voxtol 3.0.0; GE Systems, advanced workstation, volume analysis). The cochlea and three semicircular canals were morphologically evaluated. Volume-rendered images of 25 inner ears of 13 patients demonstrated cochlear anomalies in the form of incomplete partition (n=18), hypoplasia (n=2), and severe hypoplasia (n=5). For the superior semicircular canal, findings were normal in 15 ears, though common crus aplasia (n=6), hypoplasia (n=4), aplasia (n=3), and a short and broad shape (n=2) were also observed. The posterior semicircular canal of 13 ears was normal, but common crus aplasia (n=6), a short and broad shape (n=5), aplasia (n=4), hypoplasia (n=3) were also identified. Twelve lateral semicircular canals, were normal, but other images depicted a short and broad shape (n=7), a dilated crus (n=5), a broad shape (n=4), and aplasia (n=2). In 14 patients the anomalies were bilateral, and in seven, the same anomalies affected both ears. Three-dimensional volume rendering images of the inner ear depicted various morphological abnormalities of the cochlea and semicircular canals. At that locations, anomalies were more complicated and varied than in the cochlea. Three-dimensional volume rendering imaging using the MR CISS technique provides anatomical information regarding the membranous labyrinth, and we consider this useful in the evaluation of congenital inner ear malformations.

  3. Shared Decision-Making in the Management of Congenital Vascular Malformations.

    Science.gov (United States)

    Horbach, Sophie E R; Ubbink, Dirk T; Stubenrouch, Fabienne E; Koelemay, Mark J W; van der Vleuten, Carine J M; Verhoeven, Bas H; Reekers, Jim A; Schultze Kool, Leo J; van der Horst, Chantal M A M

    2017-03-01

    In shared decision-making, clinicians and patients arrive at a joint treatment decision, by incorporating best available evidence and the patients' personal values and preferences. Little is known about the role of shared decision-making in managing patients with congenital vascular malformations, for which preference-sensitive decision-making seems obvious. The authors investigated preferences regarding decision-making and current shared decision-making behavior during physician-patient encounters. In two Dutch university hospitals, adults and children with congenital vascular malformations facing a treatment-related decision were enrolled. Before the consultation, patients (or parents of children) expressed their preference regarding decision-making (Control Preferences Scale). Afterward, participants completed shared decision-making-specific questionnaires (nine-item Shared Decision-Making Questionnaire, CollaboRATE, and satisfaction), and physicians completed the Shared Decision-Making Questionnaire-Physician questionnaire. Consultations were audiotaped and patient involvement was scored by two independent researchers using the five-item Observing Patient Involvement instrument. All questionnaire results were expressed on a scale of 0 to 100 (optimum shared decision-making). Fifty-five participants (24 parents and 31 adult patients) were included. Two-thirds preferred the shared decision-making approach (Control Preferences Scale). Objective five-item Observing Patient Involvement scores were low (mean ± SD, 31 ± 15), whereas patient and physician Shared Decision-Making Questionnaire scores were high, with means of 68 ± 18 and 68 ± 19, respectively. The median CollaboRATE score was 93. There was no clear relationship between shared decision-making and satisfaction scores. Although adults and parents of children with vascular malformations express a strong desire for shared decision-making, objective shared decision-making behavior is still lacking, most

  4. Study of congenital malformation in tertiary care centre, Mumbai, Maharashtra, India

    Directory of Open Access Journals (Sweden)

    Prasannajeet Kokate

    2016-12-01

    Full Text Available Background: Birth defects are important cause of neonatal morbidity and mortality. Congenital anamolies are defined as structural and functional abnormalities including metabolic disorders present at birth. There are several known factors that are associated such as maternal infection like TORCH, genetic factors, drugs, maternal age, Consanguinity. Screening in late first and second trimester is important tool to reduce the prevalence. Methods: A retrospective study was done. Data was collected and analyzed. Fetal outcome was assessed. Variables like maternal age, parity, consanguinity, abortions, sibling with malformation, nutrition, smoking ,alcoholism, family history of congenital anomalies, conceived after infertility treatment, maternal diabetes, infections, fever, drugs, history of intrauterine deaths were critically evaluated. Results: Out of total 5020 deliveries, 50 babies with congenital anomalies identified. Incidence being 0.9%, commonest congenital anomalies involving craniospinal system (44%. Second most common is musculoskeletal system (30%. Consanguinity is single most important factor which was found to increase the risk of congenital anomalies in our study. In 40% of the cases consanguinity was noted. Most common perinatal risk factors are preterm labor (22%, polyhydramnios (8% and breech (16%. The fetal outcome was 80% of the babies were compatible with life and 20% were non compatible. Conclusions: In the present study, most of the mothers who had anomalous fetuses had risk factors like consanguinity and previous history of abortions. Hence the need for focused screening in this high risk category. A level II targeted scan is done at 18-20 weeks and again at 24 weeks to exclude anomalies and reduce the prevalence. Once an anomaly is detected, various management options are to be discussed with the patients in consultation with neonatologist, pediatric surgeon and neurosurgeon when necessary. If parents are willing to continue

  5. [STUDY OF THE INFLUENCE OF MINERAL FERTILIZERS ON THE NEONATAL MORBIDITY RATE IN INFANTS WITH CONGENITAL MALFORMATIONS (CM) IN THE BELGOROD REGION].

    Science.gov (United States)

    Verzilina, I N; Chumosov, M I; Evdokimov, V I

    2015-01-01

    Results of the performed study showed that the use of mineral fertilizers for crops increases the risk of morbidity in neonates with congenital malformations (CM). P-elevated levels of relative environmental risk is established for: anomalies of the musculoskeletal system, multiple congenital malformations, the CM as a whole. Maximum environmental risk in the conditions of high load offertilizers on farmland is established for congenital abnormalities of the development of reproductive system in newborn infants (RR = 2,76).

  6. Use of corticosteroids in early pregnancy is not associated with risk of oral clefts and other congenital malformations in offspring

    DEFF Research Database (Denmark)

    Bay Bjørn, Anne-Mette; Ehrenstein, Vera; Hundborg, Heidi Holmager

    2012-01-01

    Corticosteroids are commonly used to treat inflammatory diseases. There is conflicting evidence regarding the association of corticosteroid use in pregnancy and congenital malformations in offspring. We conducted a prevalence study of 83,043 primiparous women who gave birth to a live-born singleton...

  7. Prosthetic fitting in a patient with a transtibial amputation due to a congenital vascular malformation of the right leg

    NARCIS (Netherlands)

    Simmelink, Elisabeth K.; Rommers, Gerardus M.; Gardeniers, Jean W. M.; Zijlstra, Henk

    2014-01-01

    Background: The problems of prescribing a prosthesis for a young girl with severe congenital vascular malformation deformity leading to a transtibial amputation. Case description and methods: Due to the high risk of recurrent bleeding and limitations regarding full weight bearing of the stump, a nor

  8. Chromosomal investigations in patients with mental retardation and/or congenital malformations

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    C.B. Santos

    2000-12-01

    Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18% representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas.

  9. Congenital malformations and damage in early infancy of the central nervous system; Fehlbildungen und fruehkindliche Schaedigungen des ZNS

    Energy Technology Data Exchange (ETDEWEB)

    Jansen, O. [Universitaetsklinikum Schleswig-Holstein, Kiel (Germany). Sektion Neuroradiologi; Stephani, U. (eds.) [Universitaetsklinikum Schleswig-Holstein, Kiel (Germany). Universitaetskinderklinik - Klinik fuer Neuropaediatrie

    2007-07-01

    Congenital malformations and cerebral damage in early infancy cause complex morphological and clinical changes. Modern imaging techniques, and especially NMR, have provided deeper knowledge of these diseases in the past few years. Based on the neuroradiological findings, the book presents a complete picture of congenital malformations of the central nervous systems and cerebral damage in early infancy; it describes the underlying pathomechanisms, clinical symptoms and therapies. Neurologists and neuropaediatricians are enabled to diagnose malformations correctly and to develop optimal therapy strategies in cooperation with other medical disciplines. Neuroradiologists and radiologists, on the other hand, will find a manual for correct interpretation and differential diagnosis of their findings and a guide for interpreting the findings and deciding further therapeutic or diagnostic interventions. (orig.)

  10. Preconception care for women with diabetes and prevention of major congenital malformations.

    Science.gov (United States)

    Kitzmiller, John L; Wallerstein, Robert; Correa, Adolfo; Kwan, Saiyin

    2010-10-01

    This article provides an overview of the rationale for diabetes preconception care interventions for women with diabetes and the efficacy in reducing the excess occurrence of major congenital malformations. The problems with broad use of individualized preconception care are considered. In addition, suggestions are made for the implementation of more comprehensive interventions in the community and usual diabetes care settings, to address the multiple ongoing challenges in the prevention of structural anomalies associated with preexisting diabetes. Based on the published evidence, successful preconception care can be considered to include: achievement of individualized target standardized glycosylated hemoglobin levels, adequate nutrition, and minimizing hypoglycemia before and after discontinuing effective contraception and during the transition to early prenatal care. © 2010 Wiley-Liss, Inc.

  11. Does topical isotretinoin exposure during pregnancy increase the risk of congenital malformations?

    Directory of Open Access Journals (Sweden)

    İsmail Yılmaz

    2015-06-01

    Full Text Available A 34-year-old patient learned that she was 7 weeks pregnant while she was using topical isotretinoin + erythromycin gel for acne treatment and referred to Izmir Katip Celebi University Teratology Information Service for information regarding the risk of teratogenicity. Systemic use of isotretinoin is well-known for its teratogenic effects and case reports suggesting possible teratogenic effects regarding topical exposure to retinoids in pregnancy exist in the literature. However, findings reported in four prospective controlled studies do not suggest an increased congenital malformation risk in case of inadvertent exposure during pregnancy. This manuscript aims to give a summary and evaluation of available data for counseling pregnant patients regarding the possible teratogenic risk of inadvertent topical isotretinoin exposure during pregnancy. It also aims to emphasize the importance of increasing communication between pregnant patients, clinicians and teratology information services for the benefit of mother and unborn.

  12. Surgical advances for congenital ear malformation%先天性小耳畸形手术治疗进展

    Institute of Scientific and Technical Information of China (English)

    韩浩伦

    2012-01-01

    Congenital ear malformation is caused by developmental abnormalities of the first and second branchial arch. Congenital ear malformation is performance ear hypoplasia and smaller than normal size, often accompanied by external auditory canal atresia and middle ear deformities. Surgery is the main treatment for congenital microtia. This article mainly reviewed the progress on auricle reconstruction, auditory rehabilitation and other surgical treatment.%先天性小耳畸形是由第一鳃弓和第二鳃弓发育异常引起的,为耳郭发育不全且较正常者为小,常伴有外耳道闭锁、中耳畸形.手术治疗是小耳畸形治疗的最主要手段,本文就小耳畸形耳郭成形术、听力重建以及相关手术进展做一综述.

  13. The problem of vaginismus with congenital malformation of the genital tract

    Directory of Open Access Journals (Sweden)

    Grażyna Jarząbek-Bielecka

    2016-05-01

    Full Text Available The persistent or recurrent difficulties of the woman to allow vaginal entry of a penis, a finger, and/or any object, despite the woman’s expressed wish to do so” is vaginismus. Early traumatic sexual experiences (e.g. sexual abuse, religious orthodoxy, low self-esteem and body image, negative attitudes about sexuality, lack of knowledge about sex and fear responses are some of the traditional etiological correlates of vaginismus. Vaginismus is largely a diagnosis of exclusion. An interview is crucial in differentiating the causes of this disease and it should involve the following key questions: -whether the contraction of the vaginal muscles was recorded from the first sexual contact and still remains a need for sexual satisfaction is achieved without relations vaginal or -symptom occurs for some time and what circumstances it bound or -contraction of the muscles is independent of the will, reflex and is at the very idea of sexual intercourse, and -that the contraction of the vaginal muscles occurs when you try to enter the member into the vagina which is very painful. The physical, gynecological and sexuological examinations exclude local causes of the disease. The mainstay of treatment in the majority of cases is psychosexual support. The cause of organic vaginismus is congenital malformation of the genital tract. It results from abnormal development of genital paramesonephric (Müllerian ducts and the urogenital sinus, which are structures involved in the process of oviduct, uterus, and vagina organogenesis. This has strong implications in the practices of gynecology and sexuology in general, not only in adolescent gynecology and sexuology. Vaginismus with congenital malformation is animportant problem in these fields.

  14. Use of ondansetron during pregnancy and congenital malformations in the infant.

    Science.gov (United States)

    Danielsson, Bengt; Wikner, Birgitta Norstedt; Källén, Bengt

    2014-12-01

    The study investigates teratogenic risks with ondansetron (Zofran(®)). Data from the Swedish Medical Birth Register combined with the Swedish Register of Prescribed Drugs were used to identify 1349 infants born of women who had taken ondansetron in early pregnancy, 1998-2012. Presence of congenital malformations in the offspring was identified with three national health registers. In a Mantel-Haenszel analysis adjustment was made for year of delivery, maternal age, parity, smoking in early pregnancy and pre-pregnancy body mass index. Risks were expressed as odds or risk ratios with 95% confidence intervals. No statistically significantly increased risk for a major malformation was found. The risks for a cardiovascular defect and notably a cardiac septum defect were increased and statistically significant (OR=1.62, 95% CI 1.04-2.14, and RR 2.05, 95% CI 1.19-3.28, respective). The teratogenic risk with ondansetron is low but an increased risk for a cardiac septum defect is likely.

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

    Directory of Open Access Journals (Sweden)

    Fabricio González-Andrade

    2010-04-01

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

  16. Congenital malformations in sheep resulting from in utero inoculation of Cache Valley virus.

    Science.gov (United States)

    Chung, S I; Livingston, C W; Edwards, J F; Gauer, B B; Collisson, E W

    1990-10-01

    Serologic evidence indicated that an episode of congenital abnormalities in sheep was caused by Cache Valley virus (CVV), a bunyavirus indigenous to the United States. To determine the teratogenic potential of CVV in sheep, fetuses were infected in utero between 27 and 54 days of gestation with an isolate (CK-102) obtained in 1987 from a sentinel sheep in San Angelo, Texas. The dams of these fetuses were euthanatized between 28 and 75 days after inoculation, and the fetuses were examined for malformations. Twenty-eight of 34 fetuses had congenital abnormalities, including arthrogryposis, hydranencephaly, mummification, reabsorption, and oligohydroamnion. Virus was isolated from the allantoic fluid of 11 of 17 fetuses euthanatized at less than 70 days of gestation. The virus-positive fetuses, which were all negative for CVV-neutralizing antibody, had lesions ranging from none to severe arthrogryposis and hydranencephaly. Virus was not recovered from the allantoic fluid of fetuses after 76 days' gestation when CVV-specific antibody could be detected in 5 of 8 fetuses examined. The 2 fetuses infected on days 50 and 54 of gestation appeared normal and 1 had antibody to CVV.

  17. Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity.

    Science.gov (United States)

    Graham, J M; Phelps, P D; Michaels, L

    2000-01-01

    The objective of this review is to analyze aspects of congenital malformation of the ear in relation to cochlear implantation in children. Having briefly described the in utero development of the ear and the classification of types of external, middle and inner ear malformation, five practical aspects of these malformations are discussed. It seems likely that the combination of bilateral profound sensorineural deafness with bilateral microtia severe enough to make a surgical approach to the cochlea difficult will be extremely uncommon. No such cases have been reported, although Klippel-Feil deformity seems the syndrome most likely to produce this set of circumstances. Abnormalities in the intratympanic course of the facial nerve have been associated with cochlear malformation, emphasizing the benefit of intra-operative facial nerve monitoring, and a technique suggested for safely avoiding an abnormally placed nerve. Fistulae of cerebrospinal fluid (CSF) and perilymph can complicate surgery and are relatively common in common cavity and Mondini malformations. Strategies for facilitating surgery in the presence of 'gushers', for measuring the pressure of a gusher and for placement of the cochlear implant electrode array are reviewed, with reports of fluctuating levels of electric current when implants lie in dysplastic cochleas. The relationship of implant performance to VIIIth nerve tissue in malformed cochleas is discussed, with a description of the histological findings in a common cavity cochlea. Techniques for identifying the absence of the cochlear nerve are reviewed. Stimulation of the facial nerve by cochlear implants has been described in cases of congenital malformation of the labyrinth but is relatively uncommon. Case reports of the benefit received by implanted children with congenital cochlear malformation have appeared since 1988. Most cases reported have not yet been followed for long enough to establish a clear picture of the outcome following

  18. Prevention of Fetal Congenital Malformations with Allowance for the Pharmacogenetic Features of the Metabolism of Antiepileptic Drugs and Hereditary Abnormalities in the Folate Cycle

    Directory of Open Access Journals (Sweden)

    D. V. Dmitrenko

    2014-01-01

    Full Text Available Fetal congenital malformations are among the most dangerous complications of pregnancy in women with epilepsy taking antiepileptic drugs. Valproic acid and phenobarbital have the greatest risk of teratogenic effects. Insights into the current mechanisms of teratogenic effect of antiepileptic drugs, pharmacogenetic features of the metabolism of valproates and hereditary abnormalities in the folate cycle enables prevention of fetal congenital malformations

  19. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

    Directory of Open Access Journals (Sweden)

    Helen R Griffin

    Full Text Available Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF gene in causing congenital cardiovascular malformation (CVM. However, results have been discrepant between studies and no study to date has comprehensively characterised variation throughout the gene. We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF, and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF. We carried out a meta-analysis of previous case-control or family-based studies that had typed VEGF promoter SNPs, which included an additional 570 CVM cases. To identify rare variants potentially causative of CVM, we carried out mutation screening in all VEGF exons and splice sites in 93 TOF cases. There was no significant effect of any VEGF haplotype-tagging SNP on the risk of CVM in our analyses of 771 probands. When the results of this and all previous studies were combined, there was no significant effect of the VEGF promoter SNPs rs699947 (OR 1.05 [95% CI 0.95-1.17]; rs1570360 (OR 1.17 [95% CI 0.99-1.26]; and rs2010963 (OR 1.04 [95% CI 0.93-1.16] on the risk of CVM in 1341 cases. Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility.

  20. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

    Science.gov (United States)

    Griffin, Helen R; Hall, Darroch H; Topf, Ana; Eden, James; Stuart, A Graham; Parsons, Jonathan; Peart, Ian; Deanfield, John E; O'Sullivan, John; Babu-Narayan, Sonya V; Gatzoulis, Michael A; Bu'lock, Frances A; Bhattacharya, Shoumo; Bentham, Jamie; Farrall, Martin; Granados Riveron, Javier; Brook, J David; Burn, John; Cordell, Heather J; Goodship, Judith A; Keavney, Bernard

    2009-01-01

    Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF) gene in causing congenital cardiovascular malformation (CVM). However, results have been discrepant between studies and no study to date has comprehensively characterised variation throughout the gene. We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF), and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF. We carried out a meta-analysis of previous case-control or family-based studies that had typed VEGF promoter SNPs, which included an additional 570 CVM cases. To identify rare variants potentially causative of CVM, we carried out mutation screening in all VEGF exons and splice sites in 93 TOF cases. There was no significant effect of any VEGF haplotype-tagging SNP on the risk of CVM in our analyses of 771 probands. When the results of this and all previous studies were combined, there was no significant effect of the VEGF promoter SNPs rs699947 (OR 1.05 [95% CI 0.95-1.17]); rs1570360 (OR 1.17 [95% CI 0.99-1.26]); and rs2010963 (OR 1.04 [95% CI 0.93-1.16]) on the risk of CVM in 1341 cases. Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility.

  1. Spirosolane-containing Solanum species and induction of congenital craniofacial malformations.

    Science.gov (United States)

    Keeler, R F; Baker, D C; Gaffield, W

    1990-01-01

    Comparison by GC analysis of purified alkaloid extracts of Solanum species revealed no measurable free solasodine, other spirosolanes, or any non-spirosolane steroidal alkaloid aglycones in unhydrolyzed total alkaloid fractions of fruit of Solanum elaeagnifolium Cav. (silverleaf nightshade), Solanum sarrachoides (S. villosum Lam.--hairy nightshade), Solanum dulcamara L. (European bittersweet nightshade) or Solanum melongena L. (eggplant). All alkaloidal material was apparently present as glycoside. Conversely, sprouts of Solanum tuberosum L. (potato) contained 67% of its alkaloids as glycosides, which was freed only upon hydrolysis with the remaining 33% present as free solanidine. GC/MS analysis of hydrolysates of purified extracts of the test Solanum species revealed that solasodine was a principal or sole aglycone of the alkaloid glycosides in each of the test species except Solanum tuberosum. In the latter, solanidine was the sole aglycone. Among the test species, exclusive of S. tuberosum, only S. dulcamara contained aglycones other than solasodine. In addition to solasodine, S. dulcamara contained appreciable amounts of an unknown spirosolane, an aglycone provisionally identified as soladulcidine. The induction of congenital craniofacial malformations in hamsters by high oral doses of the four Solanum species that contained mainly solasodine glycosides--S. elaeagnifolium, S. dulcamara, S. sarrachoides and S. melongena was compared to inductions of malformations by Solanum tuberosum, that contained mainly solanidane glycosides. Compared to controls, Solanum elaeagnifolium and Solanum dulcamara fruit both induced a high percentage incidence of deformed litters (20.4 and 16.3, respectively) that was statistically significant (P less than 0.001 level) while percentage incidence of deformed litters induced by Solanum sarrachoides and Solanum melongena fruit (9.5 and 7.6 respectively) were both higher than controls (3.4%), in neither case was the incidence

  2. New Lethal Skeletal Dysplasia with Dandy-Walker Malformation, Congenital Heart Defects, Abnormal Thumbs, Hypoplastic Genitalia, and Distinctive Facies

    Science.gov (United States)

    Stevens, Cathy A.; Lachman, Ralph S.

    2011-01-01

    We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, and distinctive facial features. These sibs appear to have a previously undescribed skeletal dysplasia, which is most likely inherited in an autosomal recessive fashion. PMID:20602491

  3. Congenital cystic adenomatoid malformation: impact of prenatal diagnosis and changing strategies in the treatment of the asymptomatic patient.

    Science.gov (United States)

    Marshall, K W; Blane, C E; Teitelbaum, D H; van Leeuwen, K

    2000-12-01

    This study was designed to assess the effect of prenatal sonographic diagnosis on the treatment of congenital cystic adenomatoid malformation of the lung. The medical records of 27 patients with pathologically proven congenital cystic adenomatoid malformations were retrospectively reviewed. Patients were divided into four groups based on mode of presentation: with or without abnormal findings on prenatal sonography and with or without symptoms at birth. Age at diagnosis, age at surgical intervention, complications, and length of hospital stay were recorded for each group. Twenty-seven patients with 31 proven congenital cystic adenomatoid malformations were included. Eleven patients underwent prenatal sonography establishing the diagnosis (6 asymptomatic at birth, 5 symptomatic), and 16 did not have a prenatal diagnosis (10 asymptomatic at birth, 6 symptomatic). In the symptomatic populations, prenatal diagnosis had no impact on age at surgery, length of stay, or surgical complication rate (p = 0.78-0.83). In the asymptomatic population, prenatal diagnosis allowed early diagnosis (p < 0.001) and resection in the asymptomatic period. It was also associated with a shorter length of stay at the time of surgical resection (mean time, 4.2 days for patients with prenatal diagnosis versus 12.9 days for those without it;p < 0.001) and with a trend toward lower serious complication rate (3 patients without prenatal diagnosis versus 1 patient with it). Prenatal sonography provides the radiologist a means to identify congenital cystic adenomatoid malformations in a population of infants who are asymptomatic at birth. Surgical intervention in the asymptomatic infant is associated with a shorter length of stay, a trend toward fewer complications, and decreased medical cost compared with intervening after symptoms develop.

  4. Association between maternal diabetes mellitus and the risk of congenital malformations: A meta-analysis of cohort studies.

    Science.gov (United States)

    Zhao, Enfa; Zhang, Yafei; Zeng, Xianling; Liu, Baomin

    2015-08-01

    Increasing studies suggest that gestational diabetes mellitus (GDM) and pre-gestational diabetes mellitus (PGDM) may be associated with an increased risk of major congenital malformations (MCM) in the offspring. To determine whether GDM or PGDM is associated with an increased risk of congenital malformations, we performed a meta-analysis of cohort studies. We systematically searched the PubMed, Web of Science and Cochrane Library (from January, 1990 to October, 2014) and reviewed the reference lists of included papers to search for additional studies. Meta-analysis tools were used to summarize results. Summary relative risks (RRs) with 95% confidence intervals (CIs) were calculated with random-effects models or fixed-effects models. Study quality was assessed using the Newcastle-Ottawa scale. A total of 21 cohort studies were included in the meta-analysis. Analysis of all studies showed that both PGDM and GDM were associated with an increased risk of MCM (RR=2.44, 95% CI=1.92-3.10, I2=78.3%, p=0.342; RR=1.11, 95% CI=1.11-1.27, I2=9.9%, pcohort studies are needed to test the effect of PGDM and GDM on specific congenital malformations risk.

  5. MR urography: Anatomical and quantitative information on congenital malformations in children.

    Science.gov (United States)

    Karaveli, Maria; Katsanidis, Dimitrios; Kalaitzoglou, Ioannis; Haritanti, Afroditi; Sioundas, Anastasios; Dimitriadis, Athanasios; Psarrakos, Kyriakos

    2013-03-01

    Magnetic resonance urography (MRU) is considered to be the next step in uroradiology. This technique combines superb anatomical images and functional information in a single test. In this article, we aim to present the topic of MRU in children and how it has been implemented in Northern Greece so far. The purpose of this study is to demonstrate the potential of MRU in clinical practice. We focus both on the anatomical and the quantitative information this technique can offer. MRU was applied in 25 children (ages from 3 to 11 years) diagnosed with different types of congenital malformations. T1 and T2 images were obtained for all patients. Dynamic, contrast-enhanced data were processed and signal intensity versus time curves were created for all patients from regions of interest (ROIs) selected around the kidneys in order to yield quantitative information regarding the kidneys function. From the slopes of these curves we were able to evaluate which kidneys were functional and from the corticomedullary cross-over point to determine whether the renal system was obstructed or not. In all 25 cases MRU was sufficient, if not superior to other imaging modalities, to establish a complete diagnosis.

  6. MR urography: Anatomical and quantitative information on congenital malformations in children

    Directory of Open Access Journals (Sweden)

    Maria Karaveli

    2013-01-01

    Full Text Available Background and Aim: Magnetic resonance urography (MRU is considered to be the next step in uroradiology. This technique combines superb anatomical images and functional information in a single test. In this article, we aim to present the topic of MRU in children and how it has been implemented in Northern Greece so far. The purpose of this study is to demonstrate the potential of MRU in clinical practice. We focus both on the anatomical and the quantitative information this technique can offer. Materials and Methods: MRU was applied in 25 children (ages from 3 to 11 years diagnosed with different types of congenital malformations. T1 and T2 images were obtained for all patients. Dynamic, contrast-enhanced data were processed and signal intensity versus time curves were created for all patients from regions of interest (ROIs selected around the kidneys in order to yield quantitative information regarding the kidneys function. Results: From the slopes of these curves we were able to evaluate which kidneys were functional and from the corticomedullary cross-over point to determine whether the renal system was obstructed or not. Conclusion: In all 25 cases MRU was sufficient, if not superior to other imaging modalities, to establish a complete diagnosis.

  7. Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

    Institute of Scientific and Technical Information of China (English)

    Xue-lian LI; Yu-qing ZHOU; Jue-hua ZHANG; Ying-liu YAN; Xiao-tian LI

    2007-01-01

    Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung (CCAM).Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CCAM over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01%o (1/11 124) before 28 gestation weeks. There were 1 case of type Ⅰ (8% ), 2 cases of type Ⅱ (17%) and 9 cases of type Ⅲ (75%). Nine pregnancies were terminated and 2 cases were confirmed by pathology.Three neonates were alive and without any symptom now.Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination of fetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

  8. Current Management of Epilepsy and Pregnancy: Fetal Outcome, Congenital Malformations, and Developmental Delay.

    Science.gov (United States)

    Katz, Jeffrey M.; Pacia, Steven V.; Devinsky, Orrin

    2001-04-01

    Purpose. Women with epilepsy (WWE) reportedly have increased rates of pregnancy complications and poor fetal outcomes related to both their epilepsy and antiepileptic drugs (AEDs). These results influence decisions about conceiving. Most published studies evaluate WWE treated before 1990. We sought to better define risks to pregnant WWE at a tertiary care center, which used current epilepsy guidelines.Methods. We retrospectively analyzed 100 consecutive pregnancies in WWE from 1990 to 2000. Maternal data: epilepsy syndrome, duration, AEDs used, seizure occurrence and frequency, delivery type and complications. Fetal outcomes: fetal birth weight (FBW), gestational age, incidence of prematurity, major and minor congenital malformations, developmental delay.Results. Maternal factors: 37% generalized and 63% partial epilepsies, 59% seizure-free throughout pregnancy, 30% increased and 22% decreased seizure frequency, 90% used AEDs, 21% required polytherapy, 98% took folate, and 48% with gestational seizures delivered by cesarean section, compared with 18% without seizures (P WWE treated with current epilepsy management, the majority had excellent outcomes. Future large studies must confirm this.

  9. [Novel possibilities for the rehabilitation of patients presenting with congenital external and middle ear malformations].

    Science.gov (United States)

    Mileshina, N A; Osipenkov, S S; Bakhshinian, V V; Tavartkiladze, G A

    2014-01-01

    The objective of the present study was to estimate the advantages of cochlear Baha BIA 400 abutments in the intraoperative and early postoperative periods. A total of 10 implantations of the systems with the use of hydroxyapatite bone cement were performed in 9 patients of different age. Stability of the implants and intensity of skin reactions were evaluated. The data obtained indicate that the use of cochlear Baha BIA 400 abutments significantly simplifies and shortens the surgical stage of rehabilitation producing a good cosmetic result. The use of the Osstell instrument made it possible to estimate stability of the implants intraoperatively and evaluate the effectiveness of osteointegration during the follow-up period. Analysis of the results of the study provided a basis on which to improve the quality and shorten duration of the rehabilitative treatment of the patients presenting with congenital external and middle ear malformations. Moreover, the data obtained can be used to develop practical recommendations for the further work in this area.

  10. Congenital anterior urethrocutaneous fistula associated with a stenosis of the bulbar urethra in the context of high anorectal malformation without fistula.

    Science.gov (United States)

    Galinier, P; Mouttalib, S; Carfagna, L; Vaysse, P; Moscovici, J

    2009-02-01

    Congenital anterior urethrocutaneous fistulas are infrequent. We report a case of a congenital anterior urethrocutaneous fistula associated with a stenosis of the bulbar urethra in the context of a high anorectal malformation. We describe the surgical technique for the reconstruction of the urethra.

  11. [Morphologic analysis of congenital central nervous system malformations in children from the first of life dying in the years 1986-1990].

    Science.gov (United States)

    Sobaniec-Lotowska, M; Sobaniec, W; Sulkowska, M; Sulkowski, S; Kułak, W

    1996-11-01

    An incidence and morphology of the CNS congenital malformations in newborn babies and infants were analysed in the consecutive autopsies carried out in 1986-1990, i.e. following Tscharnobyl disaster. The obtained results were compared to those seen in the two earlier periods (1976-1980 and 1981-1986). In 1986-1990, a percentage of autopsies showing congenital CNS malformations increased approximately by two-fold (15%). The highest percentage of such malformations in specific years of the analysed period was noted in 1990 (20%). Central nervous system malformations were more frequent in female sex (57%) than in male sex (43%). In 64% of cases newborn babies were affected. A percentage of CNS malformations coexisting with other congenital malformations increased to 40% in the analysed period of time (from 29.4% in 1976-1985). Meningomyelocele (41%), congenital hydrocephalus (21.5%), multiple anomalies in brain (14%), and anencephaly (12.6%) constituted the most frequent group of CNS malformations. In 1986-1990, an incidence of meningomyelocele increased by more than two-fold (if this anomaly coexisted with hydrocephaly, an increase in the incidence exceeded three-fold), and hydrocephaly as well as an increase in the incidence of anencephaly by 1.5 times in comparison with 1976-1985.

  12. Local Model of Arteriovenous Malformation of the Human Brain

    Science.gov (United States)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  13. Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia.

    Science.gov (United States)

    Besnard, Marianne; Eyrolle-Guignot, Dominique; Guillemette-Artur, Prisca; Lastère, Stéphane; Bost-Bezeaud, Frédérique; Marcelis, Ludivine; Abadie, Véronique; Garel, Catherine; Moutard, Marie-Laure; Jouannic, Jean-Marie; Rozenberg, Flore; Leparc-Goffart, Isabelle; Mallet, Henri-Pierre

    2016-01-01

    We detected an unusual increase in congenital cerebral malformations and dysfunction in fetuses and newborns in French Polynesia, following an epidemic of Zika virus (ZIKV), from October 2013 to March 2014. A retrospective review identified 19 cases, including eight with major brain lesions and severe microcephaly, six with severe cerebral lesions without microcephaly and five with brainstem dysfunction without visible malformations. Imaging revealed profound neurological lesions (septal and callosal disruption, ventriculomegaly, abnormal neuronal migration, cerebellar hypoplasia, occipital pseudocysts, brain calcifications). Amniotic fluid was drawn from seven cases at gestation weeks 20 to 29. ZIKV RNA was detected by RT-PCR and infectious ZIKV isolates were obtained in four of five microcephalic, but not in two non-microcephalic cases with severe brain lesions. Medical termination of pregnancy was performed in eleven cases; two cases with brainstem dysfunction died in the first months of life; six cases are alive, with severe neurological impairment. The results show that four of seven tested fetuses with major neurological injuries were infected with ZIKV in utero. For other non-microcephalic, congenital abnormalities we were not able to prove or exclude ZIKV infection retrospectively. The unusual occurrence of brain malformations or dysfunction without microcephaly following a ZIKV outbreak needs further studies.

  14. Antiepileptic drug teratogenesis: what are the risks for congenital malformations and adverse cognitive outcomes?

    Science.gov (United States)

    Harden, Cynthia L

    2008-01-01

    Antiepileptic drug (AED) exposure in utero has been associated with major congenital malformations (MCMs) and adverse cognitive outcomes in the offspring of women with epilepsy (WWE). However, determining the exact risk and the relative risks of AEDs for these outcomes has been challenging, and only in recent years has improved study designs enabled us to get a clearer picture of the risks. Still, there is a startling lack of information for many of the newer and widely used AEDs. At this point of time, studies clearly show that valproate (VPA) as a part of polytherapy or when used as a monotherapy is associated with an increased risk of MCMs, and that it poses about threefold the risk of carbamazepine (CBZ). It is unclear if any other AEDs studied pose an increased risk of MCM occurrence; in the best available large study the absolute rates of MCMs with other several other AEDs were not different from untreated WWE. The absolute risks have been reported as CBZ 2.2%, lamotrigine (LTG) 3.2%, phenytoin (PHT) 3.7%, untreated WWE 3.5%, with VPA as the outlier at 6.2%. In utero VPA exposure is also associated with a risk of lower verbal intelligence quotient (IQ) in children, at approximately 10 points lower than controls. CBZ appears to pose no risk to cognitive outcome, and there is some evidence that PHT and phenobarbital (PB) may be associated with risk of reduced cognitive outcome. Polytherapy is associated with greater risk than monotherapy for both MCMs and cognitive outcome. Although more information is needed and hopefully will be obtained from ongoing prospective studies, it is clear that WWE taking VPA and planning pregnancy should have a discussion with their physician about considering changing to another AED before pregnancy, if possible.

  15. A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

    Directory of Open Access Journals (Sweden)

    Cakan Nedim

    2009-12-01

    Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

  16. Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry

    Directory of Open Access Journals (Sweden)

    Peter Agergaard

    2011-02-01

    Full Text Available Peter Agergaard1, Anders Hebert2, Jesper Bjerre3, Karina Meden Sørensen4, Charlotte Olesen3, John Rosendal Østergaard31Department of Pediatrics, Viborg Hospital, Viborg, Denmark; 2Department of Pediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark; 3Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark; 4Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, DenmarkIntroduction: The present study was conducted to establish the positive predictive value of congenital cardiac malformation diagnoses registered in the Danish National Patient Registry (NPR, thereby exploring whether the NPR can serve as a valid tool for epidemiologic studies of congenital cardiac malformations.Materials and methods: The study population comprised every individual born from 2000 to 2008 who was registered in the NPR with a congenital cardiac malformation diagnosis and treated at one of the two national departments of pediatric cardiology. Positive predictive values were established comparing NPR information with the clinical record of each individual.Results: A total of 2952 patients with a total of 3536 diagnoses were eligible for validation. Review of their clinical records unveiled no patient without cardiac malformation. In 98% (98%–99% of the cases, the NPR diagnosis could be found as the discharge diagnosis in the patient's clinical record, and in 90% (89%–91% of the cases the NPR diagnosis was considered a true reflection of the patient's actual malformation.Conclusions: Our study verifies that the present study population retrieved from the NPR is a valid tool for epidemiological research within the topic of congenital cardiac malformations, given that the research question is not dependent on a fully established sensitivity of the NPR. Precautions should be made regarding cardiac malformations characterized by low prevalence or poor predictive values, and the reported validity should not be

  17. Frequency of congenital malformations and chromosomal disorders in Bacau and Vaslui counties (Romania)

    Indian Academy of Sciences (India)

    Cristina-Elena Popa; Gogu Ghiorghiţă

    2015-12-01

    This paper presents the state of genetic health of the human populations in two Romanian counties, Bacau and Vaslui, as they are different in area, number of inhabitants, level of economic and social development, etc. The data presented in this paper is from the Public Health Directions of the two counties, reflecting the situation recorded during 2006–2013. In the 8 years study, 1894 cases of congenital and chromosomal disorders were recorded in the newborns from the populations in the two counties. The identified cases were distributed based on years, categories of disorders and sexes. The average frequency of congenital disorders in the two populations over the investigated period was about 1.65 in Bacau county and 1.83% in Vaslui counties. In the population of Bacau county, these disorders affect in the same number in both the sexes (49.62% female cases and 50.38% male cases), while in Vaslui, the male cases are more than the females (53.92 and 46.08%, respectively). The main congenital disorders observed were: cardiovascular system anomalies, musculoskeletal system, urogenital system, etc. During the investigation period, in the human population of Bacau county, 97 cases of newborns with chromosomal disorders were diagnosed (0.16% of the living newborns), while in Vaslui county there were 106 cases (0.26% of the living newborns). Among these disorders, the Down’s syndrome was the most frequent one, representing 83.5 and 85.8% of cases in the population of Bacau county, and Vaslui counties.

  18. Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

    Directory of Open Access Journals (Sweden)

    Brouwer Oebele F

    2008-03-01

    Full Text Available Abstract Background Fetal spina bifida aperta (SBA is characterized by a spinal meningomyelocele (MMC and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denudation may trigger cerebral pathology. In fetuses with MMC, little is known about neuroepithelial/ependymal denudation and the initiating pathological events. The objective of this study was to investigate whether neuroepithelial/ependymal denudation occurs in human fetuses and neonates with MMC, and if so, whether it is associated with the onset of hydrocephalus. Methods Seven fetuses and 1 neonate (16–40 week gestational age, GA with MMC and 6 fetuses with normal cerebral development (22–41 week GA were included in the study. Identification of fetal MMC and clinical surveillance of fetal head circumference and ventricular width was performed by ultrasound (US. After birth, MMC was confirmed by histology. We characterized hydrocephalus by increased head circumference in association with ventriculomegaly. The median time interval between fetal cerebral ultrasound and fixing tissue for histology was four days. Results At 16 weeks GA, we observed neuroepithelial/ependymal denudation in the aqueduct and telencephalon together with sub-cortical heterotopias in absence of hydrocephalus and/or Chiari II malformation. At 21–34 weeks GA, we observed concurrence of aqueductal neuroepithelial/ependymal denudation and progenitor cell loss with the Chiari II malformation, whereas hydrocephalus was absent. At 37–40 weeks GA, neuroepithelial/ependymal denudation coincided with Chiari II malformation and hydrocephalus. Sub-arachnoidal fibrosis at the convexity was absent in all fetuses but present in the neonate. Conclusion In fetal SBA, neuroepithelial/ependymal denudation in the telencephalon and the aqueduct can occur before Chiari II malformation

  19. A rare case of Chiari type-1 malformation accompanied by symptomatic cerebrospinal fluid hypovolemia: comparison of congenital Chiari type-1 malformation and acquired Chiari malformation secondary to cerebrospinal fluid hypovolemia: case report.

    Science.gov (United States)

    Hatae, Ryusuke; Kohri, Ryusuke; Maeda, Kazushi; Miyazono, Masayuki

    2014-01-01

    A 23-year-old woman was injured in a rear-end collision. She had general malaise and posterior neck pain, which were more severe when she was in an upright position. Magnetic resonance imaging (MRI) revealed the presence of cerebellar tonsil descensus and syringomyelia in the spinal cord. Radioisotope (RI) cisternography showed signs of an early accumulation of RI in the bladder, and a delayed accumulation of RI in the cerebral fornix. We considered the possibilities of cerebrospinal fluid (CSF) hypovolemia and congenital Chiari type-1 malformation as being responsible for her headache. To obtain a definitive diagnosis, we performed gadolinium (Gd)-enhanced MR cisternography and found evidence of CSF leakage. We performed an epidural blood patch (EBP), and her symptoms resolved. In 2 years since the episode, her symptoms have not recurred, and additional treatment has not been required. In addition, MRI performed 2 years after the EBP did not reveal any changes. There seems no previous report which described successful differentiation of pre-existing congenital Chiari type-1 malformation from the acquired one caused by symptomatic CSF hypovolemia. Because treatment protocols differ between these two conditions, the establishment of a correct diagnosis is important.

  20. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    Energy Technology Data Exchange (ETDEWEB)

    Lv, Ming-ming, E-mail: lvmingming001@163.com [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China); Fan, Xin-dong, E-mail: fanxindong@yahoo.com.cn [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China); Su, Li-xin, E-mail: sulixin1975@126.com [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  1. Congenital malformations of the flipper in three West Indian manatees, Trichechus manatus, and a proposed mechanism for development of ectrodactyly and cleft hand in mammals.

    Science.gov (United States)

    Watson, A G; Bonde, R K

    1986-01-01

    Three cases of congenital ectrodactyly of the flipper in the manatee are described, including one case of bilaterally-symmetrical cleft hand. A hypothesis assumes that a defect in the apical ectodermal ridge (AER) in the developing hand plate of the early embryo is the initiating factor in the development of ectrodactylous and cleft hand malformations in man and other mammals. Variations in the site, extent, and time of the AER defect will account for many of the morphologic variations observed in these congenital malformations.

  2. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    Science.gov (United States)

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  3. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    Science.gov (United States)

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  4. Exposure to fluconazole and risk of congenital malformations in the offspring: A systematic review and meta-analysis.

    Science.gov (United States)

    Alsaad, Abdulaziz M S; Kaplan, Yusuf C; Koren, Gideon

    2015-04-01

    Vulvovaginal candidiasis (VVC) affects up to 75% of women at least once during their lifetime, mostly during the reproductive age, and recurrence rate is about 50%. Because half of all pregnancies are unplanned and pregnant women have an increased risk of VVC recurrence, the likelihood of inadvertently being exposed to fluconazole in pregnancy is increased. Thus, we aimed to examine the risk of congenital malformations in the offspring of women exposed to fluconazole in the first trimester of pregnancy. The rate for overall malformations was 1.10 (95% CI 0.98-1.25), for heart defect was 1.29 (95% CI 1.05-1.58), for craniofacial defects was 1.25 (95% CI 0.88-1.77), and for limb/musculoskeletal defects was 0.82 (95% CI 0.59-1.13). In conclusion, the use of fluconazole in the first trimester does not appear to increase the overall risk for congennital malformations. More studies are needed to address the potential increased rate of heart defects.

  5. Psychosocial job strain and risk of congenital malformations in offspring--a Danish National cohort study

    DEFF Research Database (Denmark)

    Larsen, A D; Hannerz, H; Thulstrup, A M

    2014-01-01

    (aOR 0.99, 95% CI 0.85-1.15). Supplementary analyses including restriction to first-borns and a stratified analysis with respect to manual and nonmanual work did not change the results. CONCLUSIONS: Association between exposure to high job strain during pregnancy and elevated risk of circulatory......OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth...... strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression...

  6. No Major Role for Periconceptional Folic Acid Use and Its Interaction with the MTHFR C677T Polymorphism in the Etiology of Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Wijers, Charlotte H. W.; de Blaauw, Ivo; Zwink, Nadine; Draaken, Markus; van der Zanden, Loes F. M.; Brunner, Han G.; Brooks, Alice S.; Hofstra, Robert M.; Sloots, Cornelius E. J.; Broens, Paul M. A.; Wijnen, Marc H.; Ludwig, Michael; Jenetzky, Ekkehart; Reutter, Heiko; Marcelis, Carlo L. M.; Roeleveld, Nel; van Rooij, Iris A. L. M.

    2014-01-01

    Background: Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic acid supplements were inconsistently suggested to play a role in the prevention of ARM. Therefore, we investigated independ

  7. THE ANALYSIS OF FACTORS DETERMINING THE DIFFERENCES OF PERINATAL LOSSES DUE TO CONGENITAL MALFORMATIONS IN THE REGIONS OF THE RUSSIAN FEDERATION (ACCORDING TO THE STATE AND DEPARTMENTAL STATISTICS

    Directory of Open Access Journals (Sweden)

    E. N. Baibarina

    2012-01-01

    Full Text Available The article contains the results of comparative analysis of the structure of medico-biological factors affecting characteristics of perinatal losses due to congenital malformations in the regions of the Russian Federation in 2010. The authors represent the objective comparative analysis of the management of obstetric, gynecological and neonatal medical healthcare quality at different levels and stages.

  8. [The incidence of external congenital malformations at the Hospital de Ginecopediatría No. 48 in León, Guanajuato].

    Science.gov (United States)

    Hernández-Arriaga, J L; Cortés-Gallo, G; Aldana-Valenzuela, C; Ramírez-Huerta, A C

    1991-10-01

    From June 1st, 1989 to May 31st, 1990, 16,987 consecutive newborns were examined at the No. 48 Gynecological Pediatric Hospital of the IMSS National Medical Center, looking for external congenital malformations including esophageal atresias, anorectal malformations and congenital hip luxations, all easily detected during a routine exploration. Each deformed newborn assigned two control patients the following two newborn babies showing no birth defects. 308 deformed newborns were detected, an incidence of 1.81%. Among the most frequent defects were midline flat hemangiomas, polyotia, Down syndrome, congenital hip luxation and myelomeningocele. The only significant statistical difference found with respect to the control group was a greater family history of defects in the case group (P less than 0.0001). When comparing our results with those from other studies, including a study done locally 15 years ago, we found differences among specific malformations: congenital hip malformation, polydactylia, foot deformities, flat hemangiomas, nevus and polyotias. Yet, the overall frequency of defects found was similar.

  9. The Impact of Different Case Ascertainment Definitions on the Prevalence of Major Congenital Malformations and their Association with Asthma During Pregnancy.

    Science.gov (United States)

    Eltonsy, Sherif; Forget, Amelie; Blais, Lucie

    2017-03-01

    Objectives To compare the prevalence of major malformations using different case ascertainment definitions and to evaluate their impact on maternal asthma-major malformations association. Methods A cohort of pregnancies with and without asthma between 1990 and 2010 was formed. We used two classification methods: the Two step Congenital Malformation Classification (TCMC) and the Canadian Congenital Anomalies Surveillance System (CCASS). Within each method, three case definitions were compared: (1) ≥1 diagnosis in the hospital database; (2) ≥1 diagnosis in the hospital database or ≥2 in the medical claims; and (3) ≥1 diagnosis in the hospital database or ≥1 in the medical claims. We calculated the prevalence of major malformations and adjusted odds ratios (aORs) for maternal asthma association. Results Of 467,946 pregnancies, 12.3 % were with active asthma. The prevalence estimates were: TCMC 5.10-7.08 % and CCASS 7.03-10.57 %. Asthma-major malformations association was weaker with the CCASS (aOR 1.14-1.20) versus TCMC (aOR 1.22-1.26). Discussion The case ascertainment definitions with ≥1 hospitalization are likely to be the most reliable in similar administrative databases. The case ascertainment definition had a considerable impact on the prevalence of major malformations, but hardly influenced the aORs. Future studies should formally assess the validity of the case ascertainment definitions and allow generalizability to other maternal exposures.

  10. Congenital malformations in the Fylde region of Lancashire, England 1957-1973.

    Science.gov (United States)

    Lovett, A A; Gatrell, A C; Bound, J P; Harvey, P W; Whelan, A R

    1990-01-01

    This paper uses data collected by a consultant paediatrician to examine variations in the prevalence of neural tube and cardiovascular malformations within the Fylde region of North West England. Results at the district scale indicate contrasts in the geographical distributions of the two classes of malformation and these are then further assessed via a case-control study which standardises for factors such as date of conception, age of mother and parity. The results of this study suggest that there were wards in Blackpool and Fleetwood with unusually high prevalences of neural tube defects. Further research is being undertaken to identify the causes of these concentrations.

  11. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.

    NARCIS (Netherlands)

    Wijers, C.H.W.; Blaauw, I. de; Marcelis, C.L.M.; Wijnen, R.M.H.; Brunner, H.G.; Midrio, P.; Gamba, P.; Clementi, M.; Jenetzky, E.; Zwink, N.; Reutter, H.; Bartels, E.; Grasshoff-Derr, S.; Holland-Cunz, S.; Hosie, S.; Marzheuser, S.; Schmiedeke, E.; Cretolle, C.; Sarnacki, S.; Levitt, M.A.; Knoers, N.V.A.M.; Roeleveld, N.; Rooij, I.A.L.M. van

    2010-01-01

    PURPOSE: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities.

  12. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

    NARCIS (Netherlands)

    C.H.W. Wijers (Charlotte); I. de Blaauw (Ivo); C.L.M. Marcellis; R.M.H. Wijnen (René); H. Brunner (Han); P. Midrio (Paola); P. Gamba (Piergiorgio); M. Clementi (Maurizio); E. Jenetzky (Ekkehart); N. Zwink (Nadine); H. Reutter (Heiko); E. Bartels (Enrika); S. Grasshoff-Derr (Sabine); S. Holland-Cunz (Stefan); S. Hosie (Stuart); S. Märzheuser (Stefanie); E. Schmiedeke (Eberhard); C. Crétolle (Célia); S. Sarnacki (Sabine); M.A. Levitt (Marc); N.V.A.M. Knoers (Nine); N. Roeleveld (Nel); I.A.L.M. Rooij (Iris)

    2010-01-01

    textabstractPurpose: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research

  13. Effect of Pingyangmycin on human venous malformation endothelial cells

    Institute of Scientific and Technical Information of China (English)

    Yi Fang Zhao; Zhi Jun Sun; Yu Lin Jia; Jun Jia; Ya Meng Si; Ji Hong Zhao; Wen Feng Zhang

    2008-01-01

    @@ Purpose: Venous malformations are common vascular anomalies with a propensity of the head and neck. Intralesional injection of Pingyangmycin (PYM, bleomycin A5 hydrochloride) is a widely used sclerotherapy method for the treatment of venous malformation.

  14. Living fetus without congenital malformation in a singleton partial hydatidiform molar pregnancy: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Babita Ramani

    2014-08-01

    Full Text Available A 36 years old lady gravida 2 para 1, came to our emergency ward at 9:30 pm on 12th June 2010 with complains of bleeding p/v for 2 hours with history of bleeding at 12 weeks. On examination she was anemic and uterus was 32 weeks size with good fetal heart sound. Bleeding was coming through os, on p/s examination. Ultrasonography showed a single live fetus of 1033 grams and thickened placenta (79 mm thickness showing multiple cystic lesion with peripheral hypervascularity, giving an impression of partial hydatidiform mole. She was managed conservatively and delivered a live preterm male child of 960 grams on 13th June 2010 evening without any congenital malformation. Placental weight was 1800 grams with multiple small vesicles. Now the boy is 4 years old and going to school with normal developmental milestone. [Int J Reprod Contracept Obstet Gynecol 2014; 3(4.000: 1130-1133

  15. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner′s syndrome

    Directory of Open Access Journals (Sweden)

    Jane Jackie David

    2016-01-01

    Full Text Available We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner′s syndrome.

  16. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner's syndrome.

    Science.gov (United States)

    David, Jane Jackie; Mohanlal, Smilu; Sankhe, Punam; Ghildiyal, Radha

    2016-01-01

    We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner's syndrome).

  17. Protection from phenytoin-induced congenital malformations by coadministration of the antiepileptic drug stiripentol in a mouse model.

    Science.gov (United States)

    Finnell, R H; Kerr, B M; van Waes, M; Steward, R L; Levy, R H

    1994-01-01

    To test the hypothesis that the cytochrome P-450-inhibiting antiepileptic drug (AED) stiripentol (STP) can reduce the incidence of phenytoin (PHT) induced congenital malformations, we chronically administered the AEDs to three inbred mouse strains. The frequency of congenital defects in PHT-treated animals was dosage dependent, ranging from 7 to 55%. When STP was coadministered orally with PHT, there was a significant reduction in fetal defects in SWV and C57BL/6J mouse strains. A replication of the experiment was conducted with addition of a seventh group of mice that received the high dosage of PHT together with STP. In the replicate, all three strains demonstrated a significant reduction in fetal defects in fetuses exposed to PHT (60 mg/kg) and STP (200 mg/kg) as compared with PHT (60 mg/kg) monotherapy. These results strongly suggest that oxidative metabolites activated by cytochrome P-450 are the primary teratogenic molecules involved in PHT-induced teratogenesis and that clinical management of pregnant epileptic patients may be improved through heightened awareness of these drug interactions.

  18. Congenital malformation of fetus in a pregnancy following spontaneous ovulation in a case of premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Priya Selvaraj

    2010-01-01

    Full Text Available Premature ovarian failure (POF, that is, amenorrhea before 40 years of age can be attributed to a variety of etiologies. Approximately 1% of women before 30 years are diagnosed with POF. Spontaneous ovulation leading to pregnancy in POF is even a rarer entity. We report a case where congenital malformations were diagnosed in a fetus following spontaneous ovulation in a case of POF. A 33-year-old woman presented to our center with primary infertility. On complete work up, she was diagnosed with POF and conceived with hormone replacement therapy and donor oocyte program. She delivered a healthy female baby through caesarean section. The patient reviewed later with amenorrhea of 40 days and pregnancy was confirmed. However, during antenatal follow-up congenital anomalies in fetus were diagnosed sonographically. The decision for termination of pregnancy was taken. To conclude, we recommend large-scale retrospective analysis that would define medical guidelines in cases of pregnancy following spontaneous ovulation in POF.

  19. Massive hematuria due to a congenital renal arteriovenous malformation mimicking a renal pelvis tumor: a case report

    Directory of Open Access Journals (Sweden)

    Sountoulides P

    2008-05-01

    Full Text Available Abstract Introduction Congenital renal arteriovenous malformations (AVMs are very rare benign lesions. They are more common in women and rarely manifest in elderly people. In some cases they present with massive hematuria. Contemporary treatment consists of transcatheter selective arterial embolization which leads to resolution of the hematuria whilst preserving renal parenchyma. Case presentation A 72-year-old man, who was heavy smoker, presented with massive hematuria and flank pain. CT scan revealed a filling defect caused by a soft tissue mass in the renal pelvis, which initially led to the suspicion of a transitional cell carcinoma (TCC of the upper tract, in view of the patient's age and smoking habits. However a subsequent retrograde study could not depict any filling defect in the renal pelvis. Selective right renal arteriography confirmed the presence of a renal AVM by demonstrating abnormal arterial communication with a vein with early visualization of the venous system. At the same time successful selective transcatheter embolization of the lesion was performed. Conclusion This case highlights the importance of careful diagnostic work-up in the evaluation of upper tract hematuria. In the case presented, a congenital renal AVM proved to be the cause of massive upper tract hematuria and flank pain in spite of the initial evidence indicating the likely diagnosis of a renal pelvis tumor.

  20. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

    Science.gov (United States)

    Guevar, Julien; Penderis, Jacques; Faller, Kiterie; Yeamans, Carmen; Stalin, Catherine; Gutierrez-Quintana, Rodrigo

    2014-01-01

    The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013) to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations.

  1. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

    Directory of Open Access Journals (Sweden)

    Julien Guevar

    Full Text Available The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013 to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations.

  2. Outcome after surgical repair of congenital cardiac malformations at school age.

    NARCIS (Netherlands)

    Rijken, R.E.A. van der; Maassen, B.A.M.; Walk, T.L.M.; Daniels, O.; Hulstijn-Dirkmaat, G.M.

    2007-01-01

    OBJECTIVES: To explore the long-term physical, educational, behavioural, and emotional outcome of patients undergoing surgical correction of congenital cardiac disease at school age, and to investigate the relation, if any, between the outcome and comorbidity, age and sex, and level of complexity of

  3. Shared Decision-Making in the Management of Congenital Vascular Malformations

    NARCIS (Netherlands)

    Horbach, S.E.; Ubbink, D.T.; Stubenrouch, F.E.; Koelemay, M.J.; Vleuten, C.J.M. van der; Verhoeven, B.H.; Reekers, J.A.; Schultze Kool, L.J.; Horst, C.M. van der

    2017-01-01

    BACKGROUND: In shared decision-making, clinicians and patients arrive at a joint treatment decision, by incorporating best available evidence and the patients' personal values and preferences. Little is known about the role of shared decision-making in managing patients with congenital vascular malf

  4. Congenital malformations caused by Stryphnodendron fissuratum (Leg. Mimosoideae) in guinea pigs (Cavia porcellus).

    Science.gov (United States)

    Macedo, Josenaldo S; Rocha, Brena P; Colodel, Edson M; Freitas, Sílvio H; Dória, Renata G S; Riet-Correa, Franklin; Evêncio-Neto, Joaquim; Mendonça, Fábio S

    2015-11-01

    The aim of this study was to evaluate the toxicity of Stryphnodendron fissuratum pods in guinea pigs (Cavia porcellus) and test the hypothesis that this plant has teratogenic effects. Thus, sixteen guinea pigs were randomly divided into four groups of four animals each. Groups 10, 20 and 40 consisted of guinea pigs that received commercial food that contained crushed pods of S. fissuratum at concentrations of 10, 20 and 40 g/kg, respectively, during the period of organogenesis. Control group consisted of guinea pigs under the same management conditions that did not receive crushed pods of S. fissuratum in their food. In all experimental groups, the main clinical signs of poisoning consisted of anorexia, prostration, absence of vocalizations, alopecia, diarrhea, and abortions within the adult guinea pigs. Those that did not abort gave birth to weak, malnourished pups, some of which had fetal malformations. The main teratogenic changes consisted of eventration, arthrogryposis, amelia of the forelimbs, anophthalmia, microphthalmia, anotia and agnathia. The reductions in the number of offspring and the malformations observed in the experimental groups suggest that S. fissuratum affects fetal development and is teratogenic.

  5. Congenital limb malformations and perinatal management%肢体先天畸形与围产期管理

    Institute of Scientific and Technical Information of China (English)

    沈杰; 田文; 赵俊会; 尹芳; 贺玉英

    2014-01-01

    Objective To investigate the relationship of congenital limb malformations and perinatal management. Methods Totally 156 patients with congenital limb malformations hospitalized in Beijing Jishuitan Hospital Hand Surgery from January 2012 to June 2013 were investigated. Results In the 156 patients, 149 (95.51%) patients' B-ultrasound results are normal, the detection rate is about 4.49%;83 ( 53.2%) children's congenital malformations were found by the doctor at birth, the rate of intrapartum diagnosis is low; there are 26 patients with family histories, the parents of 23 (88.46%) children do not know genetic counseling or genetic examination, the parents of 17 (65.38%) children think that there is no medical procedure recommended by the medical staff or checking their genetic counseling, the rates of awareness and implementation of genetic counseling and genetic examination are low. Conclusion Currently the detection rate, the intrapartum diagnosis rate and the rates of awareness and implementation of genetic counseling and genetic examination are low, but with the further development of medicine, the improvement of instrument quality, especially the improvement of medical awareness with front-line medical staff, the detection rate, the intrapartum diagnosis rate and the rates of awareness and implementation of genetic counseling and genetic examination will be improved.%目的:探讨肢体先天畸形的发生与围产期管理的关系。方法采用方便取样法对2012年1月-2013年5月至北京积水潭医院手外科住院治疗的156例肢体先天畸形的患儿进行问卷调查。结果本组156例患儿中,152例患儿母亲通过B超进行排畸筛查,其中149例(95.51%)的B超检查结果为正常,即检出率约为4.49%,漏诊率95.51%;仅有83例(53.2%)患儿的先天畸形在出生时由医生发现,产时诊断率较低;在有家族史的26例患儿中,有23例(88.46%)患儿家长不知道何为遗

  6. Congenital malformations and infant mortality from the Chernobyl reactor accident; Angeborene Fehlbildungen und Saeuglingssterblichkeit nach dem Reaktorunfall in Tschernobyl

    Energy Technology Data Exchange (ETDEWEB)

    Schoetzau, A.; Santen, F. van; Irl, C.; Grosche, B.

    1994-12-01

    The health impact of radiological contamination in Bavaria from the Chernobyl accident was evaluated. According to caesium 137 levels in soil samples, Bavaria was subdivided in a higher contaminated region (Southern Bavaria) and a lower contaminated region (Northern Bavaria). Indicators for health effects were congenital malformations, perinatal mortality, and infant mortality. Definition of the study periods accounted for the temporal relationship between conception as well as organogenesis and the time of highest exposure to radioactivity during the first weeks of May 1986. Statistical analysis was based on a combined spatial and temporal comparison. The results of the study do not show a significant increase in any of the outcome variables. Consequently, this study provides no evidence that radiation from Chernobyl caused a rise in the birth prevalence of congenital malformations or perinatal and infant mortality in the Bavarian population. (orig.) [Deutsch] Der vorliegende Bericht beschaeftigt sich mit den Folgen der Strahlenexposition in Bayern nach dem Reaktorunfall in Tschernobyl. Es wurde der Frage nachgegangen, ob eine Zunahme negativer gesundheitlicher Wirkungen in hoeher exponierten Bevoelkerungsgruppen im Vergleich zu niedriger exponierten feststellbar war. Der Expositionsstatus wurde nach der Bodenkontamination des Wohnortes bestimmt. Entsprechend der unterschiedlichen Hoehe des Radiocaesium-Gehaltes in Bodenproben wurde die Bevoelkerung der drei suedlichen bayerischen Regierungsbezirke `Oberbayern`, `Niederbayern` und `Schwaben` (Suedbayern) als hoeher und die Bevoelkerung der vier noerdlichen Regierungsbezirke `Oberpfalz`, `Oberfanken`, `Mittelfranken` und `Unterfranken` (Nordbayern) als niedriger exponiert definiert. Als Indikatoren fuer gesundheitliche Wirkungen wurden Veraenderungen der Geburtspraevalenz von Kindern mit ausgewaehlten angeborenen Fehlbildungen sowie Veraenderungen in den Raten der perinatalen Mortalitaet und der Gesamtsterblichkeit

  7. Congenital malformations and other reproductive losses in goats due to poisoning by Poincianella pyramidalis (Tul.) L.P. Queiroz (=Caesalpinia pyramidalis Tul.).

    Science.gov (United States)

    Santos Dos Reis, Suélen Dias; de Oliveira, Ricardo Santana; Correia Marcelino, Sóstenes Apolo; Silva Almeida E Macêdo, Juliana Targino; Riet-Correa, Franklin; da Anunciação Pimentel, Luciano; Ocampos Pedroso, Pedro Miguel

    2016-08-01

    In the semiarid region of Brazil, in areas with vegetation composed mainly of Poincianella pyramidalis, several cases of congenital malformation and reproductive losses were observed in goats and sheep from 2012 to 2014. To determine the teratogenic effect of P. pyramidalis, two groups of eight goats each were used. Goats from Group 1 received fresh P. pyramidalis, harvested daily, as the only roughage during the whole breeding and pregnancy period. Goats in Group 2 (control) received Cynodon dactylon (tifton) hay free choice. Ultrasound examination for pregnancy diagnosis was performed every 28 days. Four goats from Group 1 were pregnant on day 28 but not on day 56, suggesting embryonic death or abortion. Another goat from Group 1 died at day 70 of pregnancy, and the fetuses exhibited micrognathia. The other three goats bore six kids, three of which showed bone malformations in the limbs, spine, ribs, sternum, and head, including arthrogryposis, scoliosis and micrognathia. One kid also showed hypoplasia of the left pulmonary lobes. In the control group, all goats bore a total of 13 kids and none of them exhibited malformations. These results demonstrated that P. pyramidalis causes congenital malformations and other reproductive losses in goats.

  8. Population-based study to determine mortality in spina bifida: New York State Congenital Malformations Registry, 1983 to 2006.

    Science.gov (United States)

    Kancherla, Vijaya; Druschel, Charlotte M; Oakley, Godfrey P

    2014-08-01

    The lifetime risk of death among individuals with spina bifida is 10-times higher compared with the general population. A population-based analysis on cause-specific mortality among individuals spina bifida is lacking. Using statewide, population-based New York Congenital Malformations Registry, we examined all births between years 1983 and 2006, and identified 1988 births with spina bifida and 10,951 births with congenital hypertrophic pyloric stenosis (CHPS). We linked registry records to birth and death files from vital records, and determined age- and cause-specific mortality for isolated and multiple spina bifida, and compared the findings with the less fatal CHPS. Mortality in spina bifida is significantly high compared with CHPS (16.9% vs. 0.96%, respectively). The probability of survival in spina bifida was lower compared with CHPS. A majority of the deaths in spina bifida occurred in infants within the first year of birth; however, an increased risk of death persisted in young adulthood for both isolated and multiple cases of spina bifida. The common causes of death in children with spina bifida were hydrocephalus, infections, cardiac anomalies, pneumonia, and pulmonary embolism; while infections, heart or kidney failure, injuries and neoplasms contributed to deaths in adults. We conclude that mortality in spina bifida is a large concern, and individuals living with the defect require improved clinical care for lethal medical complications. Primary prevention of spina bifida through mandatory folic acid fortification remains as the best strategy to reduce both disability and mortality associated with this defect across the world. © 2014 Wiley Periodicals, Inc.

  9. Pattern of congenital malformations in newborn: a hospital-based study

    Directory of Open Access Journals (Sweden)

    Mohamed El Koumi

    2013-02-01

    Full Text Available Background: Birth defects, encountered frequently by pediatricians, are important causes of childhood morbidity and mortality. Birth defects can be classified based on their severity, pathogenic mechanism or whether they involve a single system or multiple systems. This hospital based prospective descriptive study highlights the prevalence of congenital anomalies (CAs in one year, among liveborn neonates delivered in a university hospital. Design and methods: All women giving birth to babies were included. Demographic details, associated risk factors and the type of CAs in babies were recorded. Diagnosis of CAs was based on clinical evaluation, radiographic examination and chromosomal analysis of newborn whenever recommended. Results: The overall incidence of CAs among liveborn neonates was 2.5%, as most of the cases were referred to Zagazig University Hospital for delivery. The musculoskeletal system (23% was the most commonly involved; followed by central nervous system (20.3%. Involvement of more than one system was observed in (28.6% cases. Out of the maternal and fetal risk factors, parental consanguinity, maternal undernutrition and obesity, positive history of an anomaly in the family, low birth weight(LBW, and prematurity were significantly associated with higher frequency of CAs(p <0.05, with non-significant differences for maternal age and the sex of the neonates. Conclusion : The current study highlighted the point prevalence of congenital anomalies in one year in zagazig university hospital in Egypt. The present study revealed a high prevalence of congenital anomalies in our locality and stressed upon the importance of carrying out a thorough clinical examination of all neonates at birth.

  10. Value of computer tomography in the diagnosis of congenital spinal malformations particulary diastematomyelia

    Energy Technology Data Exchange (ETDEWEB)

    Claussen, C.; Banniza von Bazan, U.; Jaschke, W.; Schilling, V.

    1980-11-01

    The value of computer tomography (CT) in the diagnosis of diastematomyelis (DM) was studied in our own clinical material. Thirty-one patients with congenital spinal anomalies were examined; in 21 a DM could be demonstrated. CT has two major advantages in the radiological investigation of spinal abnormalities, such as spinal dysraphism and DM: 1. Cross sections of the spinal canal can be obtained without overlying opacities and 2. the demonstration of intraspinal soft tissues structures, corresponding to their attenuation characteristics and the relative differences in absorption of the X-rays.

  11. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

    Directory of Open Access Journals (Sweden)

    Lely A. Quina

    2012-11-01

    Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. Here we show that dumbo rats and mice exhibit similar neonatal ear and eye phenotypes. In midgestation embryos, dumbo rats show a specific loss of Hmx1 expression in neural-crest-derived craniofacial mesenchyme (CM, whereas Hmx1 is expressed normally in retinal progenitors, sensory ganglia and in CM, which is derived from mesoderm. High-throughput resequencing of 1 Mb of rat chromosome 14 from dmbo/dmbo rats, encompassing the Hmx1 locus, reveals numerous divergences from the rat genomic reference sequence, but no coding changes in Hmx1. Fine genetic mapping narrows the dmbo critical region to an interval of ∼410 kb immediately downstream of the Hmx1 transcription unit. Further sequence analysis of this region reveals a 5777-bp deletion located ∼80 kb downstream in dmbo/dmbo rats that is not apparent in 137 other rat strains. The dmbo deletion region contains a highly conserved domain of ∼500 bp, which is a candidate distal enhancer and which exhibits a similar relationship to Hmx genes in all vertebrate species for which data are available. We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital ear

  12. Is congenital pulmonary airway malformation really a rare disease? Result of a prospective registry with universal antenatal screening program.

    Science.gov (United States)

    Lau, C T; Kan, A; Shek, N; Tam, P; Wong, K K Y

    2017-01-01

    Congenital pulmonary airway malformation (CPAM) is an increasingly recognized disease with potential mortality. Owing to limited published studies, the true incidence is yet to be determined. We carried out this prospective study with the aim to estimate its true incidence on a population basis. An antenatal ultrasonography program was implemented since 2009. Fetuses with suspected intra-thoracic lesions were monitored by regular follow-ups. Antenatal course, postnatal outcomes, and other demographics were compared to those of patients with CPAM in the previous decades (1989-2008). The incidence of CPAM was calculated in different periods. 66 CPAM patients were identified between 2009 and 2014 with 62 patients being detected by antenatal scan. In contrast, 45 patients were identified between 1989 and 2008 with 27 patients being detected antenatally. The incidence rate during the past and recent period was estimated as ~1 in 27,400 and ~1 in 7200 live births, respectively (p = 0.024). With increasing awareness of clinicians and the universal use of latest ultrasound technology, it is likely that more CPAM cases will be detected in the future. Here, we presented our best estimated incidence rate of CPAM, yet only a larger scale study can reveal its true incidence.

  13. Identical twins with lethal congenital pulmonary airway malformation type 0 (acinar dysplasia): further evidence of familial tendency.

    Science.gov (United States)

    DeBoer, Emily M; Keene, Sarah; Winkler, Annne M; Shehata, Bahig M

    2012-08-01

    We report a case of identical twins with lethal congenital pulmonary airway malformation (CPAM) type 0. Twin A expired several hours after birth, and twin B was sustained by extra-corporeal membrane oxygenation (ECMO) support; however, care was withdrawn from twin B following the autopsy of twin A, which revealed a diagnosis of CPAM type 0. Both twins showed pulmonary hypoplasia, histologically consistent with CPAM type 0 and pulmonary hypertension. Furthermore, the family also had a previous male who presented with pulmonary hypoplasia and respiratory failure and died shortly after birth; however, no autopsy was performed to confirm a diagnosis of CPAM. Here, in discussing our case, as well as previously reported cases, we demonstrate CPAM type 0's high prevalence among females (9:1 ratio). From the reported cases, it appears that CPAM type 0's tendency to recur in families is up to 40%, suggesting an autosomal recessive inheritance pattern. However, the actual tendency of familial recurrence is hard to assess due to the rarity of the disease and the potential lack of reporting CPAM type 0 cases. To our knowledge, our report represents the first description of CPAM type 0 in identical twins.

  14. Characteristics and Clinical Relevance of the Osseous Spur in Patients with Congenital Scoliosis and Split Spinal Cord Malformation.

    Science.gov (United States)

    Feng, Fan; Shen, Jianxiong; Zhang, Jianguo; Li, Shugang; Yu, Keyi; Tan, Haining

    2016-12-21

    The natural history of split spinal cord malformation (SCM) is still unclear. Knowledge of the characteristics of the osseous spur and its relationship with the spinal deformity may allow early identification of patients with a higher risk of a neurological deficit and enhance surgical decision-making. Eighty-five consecutive patients with congenital scoliosis and type-I SCM who had undergone surgical treatment at our hospital from May 2000 to December 2013 were identified retrospectively. There were 22 male and 63 female patients with an average age of 13.9 years at the time of surgery. Preoperative clinical and radiographic data were collected to investigate the characteristics of the scoliosis and the osseous spur. Two groups were identified on the basis of whether the patients had intact neurological function (Group A) or a neurological deficit (Group B). There were 52 patients (61%) in Group A (intact neurological function) and 33 patients (39%) in Group B (neurological deficit). There were no significant differences in the demographic distribution, curve magnitude, or length and thickness of the osseous spur between the 2 groups. In Group A, the location of the osseous spur relative to the apex of the major curve was proximal in 13 patients (25%), distal in 28 (54%), and central in 11 (21%). In Group B, the osseous spur was proximal in 7 (21%), distal in 8 (24%), and central in 18 (55%). The 2 groups differed significantly with respect to the location of the osseous spur (chi square = 10.898, p = 0.004). Group-B patients had a higher proportion of patients with kyphotic deformity (42%) than Group A (10%). The ratio of the diameters of the hemicords (concave side divided by convex side) differed significantly between the 2 groups (0.98 for Group A versus 0.89 for Group B, p = 0.030). The neurological status in patients with congenital scoliosis and type-I SCM appears to be closely related to the location of the osseous spur relative to the congenital scoliosis

  15. 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

  16. A case report of congenital umbilical arteriovenous malformation complicated with liver failure after surgical excision

    Science.gov (United States)

    Han, Ji-Won; Kim, Hyun-Young; Jung, Sung-Eun

    2017-01-01

    Abstract Rationale: Few case reports of umbilical arteriovenous malformation (AVM) have been reported. Herein, we report a neonatal case of umbilical AVM who underwent liver failure after surgical excision. Patient concerns: The patient was a girl delivered at a gestational age of 39+5 weeks showing cyanosis and heart murmur. Diagnoses: Cardiac echography, abdominal ultrasonography (USG), and computed tomography revealed suspecting the umbilical AVM. Interventions: On the eighth day after birth, because of the aggravation of heart failure, emergency surgery for excision of umbilical AVM was performed. Outcomes: In postoperative state, worsened laboratory test of liver function and coagulopathy indicated the liver failure. Abdominal USG revealed that the portal vein (PV) flow primarily occurred from the left PV to the inferior vena cava via ductus venosus and coarse hepatic echogenicity. After conservative management, laboratory findings of liver function and the flow direction of the left PV were normal, as demonstrated by abdominal USG within 50th postoperative day. Lessons: Careful preoperative evaluation of an AVM of a large size with significant blood flow should be performed, and the possibility of liver failure after surgery should always be considered. PMID:28178121

  17. Children with congenital colorectal malformations often require special education or remedial teaching, despite normal intelligence.

    Science.gov (United States)

    van den Hondel, Desiree; Aarsen, Femke K; Wijnen, Rene M H; Sloots, Cornelius E J; IJsselstijn, Hanneke

    2016-02-01

    This study prospectively evaluated neuropsychological functioning in 8-year-old patients with anorectal malformation (ARM) and Hirschsprung's disease (HD). School functioning and behaviour were assessed in a standardised interview. Intelligence, attention, self-esteem and quality of life were evaluated with validated tests and questionnaires. The following predictors were assessed: socio-economic status, number of episodes of general anaesthesia, laxative treatment and premature birth. Severely intellectually disabled patients were excluded. In total, twelve of the 23 (52%) patients with ARM and 11 (55%) of the 20 patients with HD received special education or remedial teaching. The intelligence quotient was normal: mean (standard deviation or SD) was 98 (17) and 96 (17), respectively. However, sustained attention was below the norm: mean (SD) Z-score was -1.90 (1.94) and -1.43 (1.98) for ARM and HD patients; both p intelligence, more than half of these patients received special education or remedial teaching. In addition, problems with sustained attention were found. These findings are important for long-term care. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  18. 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.

  19. Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia.

    Science.gov (United States)

    Temtamy, Samia A; Aglan, Mona S; Ashour, Adel M; El-Badry, Tarek H

    2010-01-01

    In this report, we describe two unrelated Egyptian male infants with limb malformations and constriction rings. The first case is developing normally but has severe limb anomalies, congenital constriction rings, scoliosis because of vertebral anomalies, a left accessory nipple, a small tumor-like swelling on his lower back with tiny skin tubular appendages, a hypoplastic scrotum, and an anchored penis. The second case is developmentally delayed with limb malformations, congenital constriction rings, a lumbar myelomeningeocele, hemangioma, and tiny tubular skin appendages on the back. The patient also had bilateral optic atrophy. The constellation of features in our patients cannot be fully explained by the amniotic disruption complex. The first patient may represent an additional case of the human homolog of the mouse disorganization mutant. The presence of bilateral optic atrophy in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of septo-optic dysplasia with limb anomalies. Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers. We draw attention to the phenotypic overlap between the disorganization-like syndrome and septo-optic dysplasia with limb anomalies.

  20. Temporal characteristics related to leave from work and pregnancy among mothers with congenitally malformed offspring

    Energy Technology Data Exchange (ETDEWEB)

    Nurminen, M.; Holmberg, P.C.

    1981-01-01

    The possible impact of occupational factors on the furtherance of congenital defects have been under study at our department for the past 4 years. The topic has assumed a special interest because of the importance of the issue involved, namely the search for a possibility to prevent teratogenesis, and partly because the applicable methods are different from those of customary epidemiology. In connection with a register-based, case-referent study utilizing supplementary information, acquired via questioning, of conditions at the mothers' work places, we analysed various time-related events in their pregnancy. We found that the groups compared differed from each other with regard to the correct timing of the birth, despite the fact that the distribution of the times of stopping work for various reasons were alike. Among mothers who were granted sick leave from work the diagnosis of anencephaly became less common close to the estimated date of delivery, and conversely for the diagnosis of hydrocephaly. The findings of the present study may suggest that the time of assignment for a statutory maternity leave be considered. Methodological issues in study design are also briefly discussed.

  1. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance.

    Science.gov (United States)

    Gault, Judith; Sarin, Hemant; Awadallah, Nabil A; Shenkar, Robert; Awad, Issam A

    2004-07-01

    Cerebrovascular malformations affect more than 3% of the population, exposing them to a lifetime risk of hemorrhagic stroke, seizures, and focal neurological deficits. Cerebral cavernous malformations (CCMs) exhibit an immature vessel wall, a brittle hemorrhagic tendency, and epileptogenesis, whereas arteriovenous malformations (AVMs) lack capillary beds and manifest apoplectic bleeding under high-flow conditions. There are also more benign venous anomalies, capillary malformations, and lesions with mixed and transitional features. Advances have been made toward understanding the natural history, radiological and pathological correlates, and clinical management. Yet, mechanisms of lesion genesis and clinical manifestations remain largely unknown, and the clinical behavior in individual patients is highly unpredictable. Lesion pathogenesis likely involves abnormal assembly or maintenance of blood vessels, resulting in dysmorphic vessel phenotypes. Familial CCM disease is in part caused by mutations in a cytoskeletal-related protein that is likely integral to interendothelial cell connectivity and maturation of the vascular wall. Rare familial forms of AVM disease have been correlated with two different transforming growth factor-beta receptor components, possibly causing disturbance in signaling during vascular assembly. Relevance of these mechanisms to the more common and otherwise identical sporadic CCM and AVM lesions is being explored. In this report, basic mechanisms of vasculogenesis and angiogenesis and how they possibly relate to the common cerebrovascular malformation lesions are reviewed. Novel concepts are discussed related to the cellular, molecular, and genetic substrates in CCM and AVM as well as to how this knowledge can be applied to predict, explain, and possibly modify clinical disease manifestations.

  2. 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

  3. Gastrointestinal malformations

    DEFF Research Database (Denmark)

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

    2007-01-01

    of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital...... malformations for liveborn infants. This may be because the benefits of prenatal diagnosis are outweighed by the problems arising from a lower GA at birth....

  4. Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

    NARCIS (Netherlands)

    de Wit, Olga A; den Dunnen, Wilfred Fa; Sollie, Krystyne M; Muñoz, Rosa Iris; Meiners, Linda C; Brouwer, Oebele F; Rodríguez, Esteban M; Sival, Deborah A

    2008-01-01

    BACKGROUND: Fetal spina bifida aperta (SBA) is characterized by a spinal meningomyelocele (MMC) and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denud

  5. Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

    NARCIS (Netherlands)

    de Wit, Olga A; den Dunnen, Wilfred Fa; Sollie, Krystyne M; Muñoz, Rosa Iris; Meiners, Linda C; Brouwer, Oebele F; Rodríguez, Esteban M; Sival, Deborah A

    2008-01-01

    BACKGROUND: Fetal spina bifida aperta (SBA) is characterized by a spinal meningomyelocele (MMC) and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denud

  6. Gene screening for congenital anorectal malformations%基因芯片筛选先天性肛门直肠畸形相关基因

    Institute of Scientific and Technical Information of China (English)

    王大佳; 白玉作; 贾慧敏; 黄英; 张志波; 高红; 张涛; 袁正伟; 王维林

    2009-01-01

    Objective To screen the candidate genes of congenital anorectal malformations (ARMs) by cDNA chip screening. Methods The gene expressions of the terminal rectum tissues of two high ARM infants and one infant who died of non-gastroenteric disease were analyzed by Affy-metrix Human Genome U133 Plus 2.0 Array. The level of 7 candidate genes was detected and proved by RT-PCR. Results The expression of 776 genes was found to be more than 2 times greater than that of the control, including 399 down-regulated genes and 377 up-regulated genes in patients with high ARMs. The expression of 259 genes was found to be 4 times greater than that of the control, in-cluding 150 down-regulated genes and 109 up-regulated genes. RT-PCR showed the expression of RHOB and HOXA5 in rectal terminal of patients with high ARMs was higher than that in the control. However, the expressions of SOX11, MMP7, SALL1, NKX3-1 and EPHB2 in the terminal rectum of patients with high ARMs were lower than those in control Conclusions cDNA gene chip microarray can be used to screen candidate genes which may contribute in the pathogenesis of congenital anorectal malformations. Anorectal malformations have a multifactorial and polygenic background. Gene screen-ing on congenital ARMs can provide solid basis for the etiologic and pathophysiologic study on congen-ital ARMs.%目的 应用基因芯片筛选先天性肛门直肠畸形(ARM)的相关基因.方法 用Affy-metrix U133 Plus 2.0表达谱芯片对2例高位肛门直肠畸形直肠末端及1例死于非胃肠道疾病患儿直肠末端组织的基因表达谱进行分析.应用RT-PCR的方法对筛选出的7个表达差异基因进行了表达水平的实验验证.结果 肛门直肠畸形直肠末端与正常直肠末端组织中表达差异在2倍以上的基因有776条,其中ARM下调的基因有399条,上调基因377条.差异表达4倍以上的基因259条,其中ARM下调的基因有150条,上调的基因109条.RT-PCR技术验证的7

  7. Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.

    Directory of Open Access Journals (Sweden)

    Christina S Chao

    Full Text Available Patients with pancreatic agenesis are born without a pancreas, causing permanent neonatal diabetes and pancreatic enzyme insufficiency. These patients require insulin and enzyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is an uncommon condition but high-throughput sequencing methods provide a rare opportunity to identify critical genes that are necessary for human pancreas development. Here we present the clinical history, evaluation, and the genetic and molecular analysis from two patients with pancreatic agenesis. Both patients were born with intrauterine growth restriction, minor heart defects and neonatal diabetes. In both cases, pancreatic agenesis was confirmed by imaging studies. The patients are clinically stable with pancreatic enzymes and insulin therapy. In order identify the etiology for their disease, we performed whole exome sequencing on both patients. For each proband we identified a de novo heterozygous mutation in the GATA6 gene. GATA6 is a homeobox containing transcription factor involved in both early development of the pancreas and heart. In vitro functional analysis of one of the variants revealed that the mutation creates a premature stop codon in the coding sequence resulting in the production of a truncated protein with loss of activity. These results show how genetic mutations in GATA6 may lead to functional inactivity and pancreatic agenesis in humans.

  8. Malformações congênitas em ruminantes no semiárido do Nordeste Brasileiro Congenital malformations in ruminants in the semiarid of the Brazilian Northeast

    Directory of Open Access Journals (Sweden)

    Antônio Flávio M Dantas

    2010-10-01

    planta, na primeira fase da gestação, após as primeiras chuvas, quando as ovelhas estão sendo suplementadas e a planta é o principal volumoso disponível. As malformações ocorrem principalmente nas áreas mais degradadas, onde existe maior disponibilidade da planta e menor variedade de plantas da caatinga.Congenital malformations caused by the ingestion of Mimosa tenuiflora have been reported in ruminants in the semiarid of the Brazilian Northeast. This paper reports malformations diagnosed in ruminants, from 2000 to 2008, by the Veterinary Pathology Laboratory of the Federal University of Campina Grande, Patos, PB, in municipalities of the states of Paraíba, Pernambuco and Rio Grande do Norte. During the period, 47 (3.48% out of 1.347 ascensions were reported as malformations. Based in the type of malformation and in the origin of the animals, malformations were divided in: 1 caused by the ingestion of M. tenuiflora, and 2 sporadic malformations of unknown causes. In sheep, 21 out of 418 ascensions were malformations, being 18 (4.3% of malformations caused by M. tenuiflora and 3 (0.71% of sporadic malformations. In cattle, 14 out of 434 ascensions were malformations, from these 8 (1.84% were caused by M. tenuiflora and 6 (1.38% were sporadic malformations. In goats, 12 out of 495 ascensions were malformations, being 9 (1.81% malformations related with the ingestion of M. tenuiflora and 3 (0.6% sporadic malformations. More frequent malformations caused by M. tenuiflora were arthrogryposis, micrognatia, palatoschisis, microphtalmia and unilateral or bilateral hypoplasia or aplasia of the incisive bones. Sporadic malformations were acephaly and hermaphrodite, dicephaly and malformations of mesenteric vessel in sheep; atresia ani in three goats; and hydranencephaly, atresia ani, ribs malformation with eventracion, cerebellar hypoplasia with hydrocephalus, pulmonary choristoma and meningocele, and siamese twins in cattle. A case of cerebellar hypoplasia with

  9. Major congenital malformations and residential proximity to a regional industrial park including a national toxic waste site: An ecological study

    Directory of Open Access Journals (Sweden)

    Polyakov Marina

    2006-03-01

    Full Text Available Abstract Background Public concern about exposure to emissions from the regional industrial park (IP, including 17 chemical plants and the national industrial toxic waste site, initiated this study of the possible association between major congenital malformations (MCM and residence near the IP in Israel's Southern District. Methods The study was conducted during the period 1995–2000 and included 63,850 deliveries. Data on deliveries and MCM detected at births were obtained from the regional medical center, and stratified by ethnicity and type of locality. As exposure indicator we used distance categories (proximal and distant and predominant wind direction from the IP. Distance stratification was based on the geographical distribution of the localities and complaints about the odor related to IP emissions. Based on these complaints, localities up to 20 km from the IP were considered proximal to the IP. Results Average rates of MCM were 5.0% and 4.1% for Bedouin and Jewish newborns, respectively. The rate of MCM for Bedouin from proximal localities was significantly greater compared with distant localities (5.6% vs. 4.8%; RR = 1.17 with 95% CI: 1.04–1.29. In the proximal Bedouin permanent localities, the MCM rate reached 8.2 %, which was significantly higher than in distant areas (RR = 1.63, 95% CI: 1.39–1.80. Significant risk increase of central nervous system MCM was found in these localities, compared to distant ones (RR = 2.27, 95% CI: 1.44–3.60. Among newborns from the traditional tribal settlements, proximity to the IP was associated with increased rates of the following MCM: 1 all combined, 2 those associated with chromosomal abnormalities, and 3 those defined as "others unclassified MCM." Comparison of autosomal recessive disease rates by proximity to the IP in Bedouin newborns indicates that the observed increased risk of MCM is not explained by consanguineous marriages. The rates of MCM in the Jewish population were similar

  10. [Course of congenital malformation incidences and their changes over time in children born in the Czech Republic].

    Science.gov (United States)

    Sípek, A; Gregor, V; Horáček, J; Sípek, A; Langhammer, P

    2012-10-01

    An analysis of incidences of selected birth defects in the Czech Republic in 2000 - 2008 period. Retrospective epidemiological analysis of birth defects incidences in births and total birth defects incidences (including prenatally diagnosed cases) from the Czech National Birth Defects Register database. Data from the National Birth Defects Register (Institute for Health Information and Statistics) in the Czech Republic in the 2000 - 2008 period were used along with data on prenatally diagnosed defects from particular departments of medical genetics. Sixteen selected defects (anencephaly, spina bifida, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, Edwards syndrome and Patau syndrome) were analyzed in detail. There were 119 570 live births (61 326 boys and 58 244 girls) in 2008. In the same period, 4664 live births with a birth defect (under the age of one year) were reported, out of which 2754 boys and 1910 girls. Mean incidence was 390.06 (449.08 in boys and 327.93 in girls) per 10 000 live births. In 1994 - 2006, totally 1 238 398 children were born, out of which more than 42 000 with a birth defect. In the 2000 - 2006 period, absolute numbers of diagnosed live births with birth defect varied between 3600 - 3800 cases per year while in 2007 and 2008 years absolute numbers raised over 4600 cases per year. During 2000 - 2008 period following mean incidences (per 10 000 live births) of selected defects were ascertained (total incidences including prenatal diagnostics in brackets): anencephaly 0 - 0.3 (1.9 - 3.7), spina bifida 0.7 - 2.3 (3.2 - 5.2), encephalocele 0.1 - 0.4 (0.9 - 2.4), congenital hydrocephalus 1.6 - 3.5 (5.3 - 7.0), coarctation of aorta 3.9 - 5.2 (4.8 - 6.1), transposition of great vessels 2.9 - 4.5 (3.2 - 5.0), hypoplastic left

  11. Tratamento cirúrgico das malformações pulmonares congênitas em pacientes pediátricos Surgical treatment of congenital lung malformations in pediatric patients

    Directory of Open Access Journals (Sweden)

    Hylas Paiva da Costa Ferreira

    2010-04-01

    Full Text Available OBJETIVO: Determinar as principais malformações congênitas pulmonares e os principais métodos diagnósticos utilizados, assim como as indicações de tratamento cirúrgico e os seus resultados em um serviço de referência de cirurgia torácica pediátrica. MÉTODOS: Foram revisados 52 prontuários de pacientes com diagnóstico anatomopatológico de malformações congênitas pulmonares e que foram submetidos à ressecção pulmonar entre janeiro de 1997 e dezembro de 2006. Os critérios de exclusão foram idade > 12 anos e dados clínicos incompletos. A amostra final foi composta de 35 pacientes. RESULTADOS: Nesta amostra, a média de idade foi de 31 meses, com predominância do sexo masculino (n = 21. Os achados anatomopatológicos foram malformação adenomatoide cística (n = 14, enfisema lobar congênito (n = 13, sequestro pulmonar (n = 8, e malformação arteriovenosa (n = 1. A ressecção mais comum foi a lobectomia inferior esquerda (25,71%, seguida por diferentes tipos de segmentectomia (22,85%, lobectomia superior esquerda (22,85%, lobectomia superior direita (14,28%, lobectomia inferior direita (8,57% e lobectomia média (5,71%. Dos 35 pacientes, 34 (97,14% foram submetidos à drenagem pleural fechada, com tempo médio de permanência do dreno torácico de 3,9 dias. Dez pacientes (28,5% apresentaram complicações pós-operatórias. Não houve óbitos nesta série. CONCLUSÕES: A ressecção pulmonar para o tratamento das malformações pulmonares é um procedimento seguro, apresentando baixa morbidade e nenhuma mortalidade em um serviço de referência para doenças pulmonares.OBJECTIVE: To determine the main congenital lung malformations treated and the principal diagnostic methods employed, as well as the indications for surgical treatment and the results obtained, at a referral facility for pediatric thoracic surgery. METHODS: We reviewed the medical charts of 52 patients anatomopathologically diagnosed with congenital lung

  12. CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder

    Science.gov (United States)

    Gucev, Zoran S.; Tasic, Velibor; Jancevska, Aleksandra; Konstantinova, Marina Krstevska; Pop-Jordanova, Nada; Trajkovski, Zoran; Biesecker, Leslie G.

    2010-01-01

    A newborn girl was found to have a massive lymphatic truncal vascular malformation with overlying cutaneous venous anomaly associated with overgrown feet and splayed toes. These manifestations comprise the recently described CLOVE syndrome. She also had cranial asymmetry and developed generalized seizures, which were treated with anticonvulsants. Cranial CT showed encephalomalacia, widening of the ventricles and the sulci, hemimegalencephaly (predominantly white matter) and partial agenesis of corpus callosum. Review of the literature identified several other patients with CLOVE syndrome, some of whom were misdiagnosed as having Proteus syndrome, with strikingly similar manifestations. We conclude that CNS manifestations including hemimegalencephaly, dysgenesis of the corpus callosum, neuronal migration defects, and the consequent seizures, may be a more common manifestation of CLOVE syndrome than is presently appreciated. PMID:18816642

  13. 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

  14. Split Cord Malformations

    Directory of Open Access Journals (Sweden)

    Yurdal Gezercan

    2015-06-01

    Full Text Available Split cord malformations are rare form of occult spinal dysraphism in children. Split cord malformations are characterized by septum that cleaves the spinal canal in sagittal plane within the single or duplicated thecal sac. Although their precise incidence is unknown, split cord malformations are exceedingly rare and represent %3.8-5 of all congenital spinal anomalies. Characteristic neurological, urological, orthopedic clinical manifestations are variable and asymptomatic course is possible. Earlier diagnosis and surgical intervention for split cord malformations is associated with better long-term fuctional outcome. For this reason, diagnostic imaging is indicated for children with associated cutaneous and orthopedic signs. Additional congenital anomalies usually to accompany the split cord malformations. Earlier diagnosis, meticuolus surgical therapy and interdisciplinary careful evaluation and follow-up should be made for good prognosis. [Cukurova Med J 2015; 40(2.000: 199-207

  15. The ejaculatory duct ectopically invading the bladder with multiple congenital malformations of the homolateral urogenital system: a report of a rare case and an embryological review

    Institute of Scientific and Technical Information of China (English)

    Feng Wang; Hong-Fei Wu; Jie Yang

    2009-01-01

    We report a rare case of a left ejaculatory duct that allotropically protrudes towards or invades the left vesicletriangular area with its dead end. The patient simultaneously exhibited multiple congenital malformations of thehomolateral urogenital system, such as absence of the left kidney, dysplasia and allotopia of the left seminal vesicle,absence of the left ureterostoma, separation between the left testis and the epididymis tail, and maldevelopment ofthe left testis. According to all clinical and laboratory evidence, the case represented a new syndrome, which wenamed Wuyang's syndrome. It involved a rare phenomenon in embryonic development; the dysplastic proximalvas precursor, having intruded into a common mesonephric duct and accidentally encroaching on the ureteric budposition, resulted in the absence or dysplasia of the homolateral urinary tract and ectopic invasion of the bladder bythe homolateral seminal tract.

  16. Risk of neuroblastoma, birth-related characteristics, congenital malformations and perinatal exposures: A pooled analysis of the ESCALE and ESTELLE French studies (SFCE).

    Science.gov (United States)

    Rios, Paula; Bailey, Helen D; Orsi, Laurent; Lacour, Brigitte; Valteau-Couanet, Dominique; Levy, Dominique; Corradini, Nadège; Leverger, Guy; Defachelles, Anne-Sophie; Gambart, Marion; Sirvent, Nicolas; Thebaud, Estelle; Ducassou, Stéphane; Clavel, Jacqueline

    2016-11-01

    Neuroblastoma (NB), an embryonic tumour arising from neural crest cells, is the most common malignancy among infants. The aetiology of NB is largely unknown. We conducted a pooled analysis to explore whether there is an association between NB and preconception and perinatal factors using data from two French national population-based case-control studies. The mothers of 357 NB cases and 1783 controls younger than 6 years, frequency-matched by age and gender, responded to a telephone interview that focused on demographic, socioeconomic and perinatal characteristics, childhood environment, life-style and maternal reproductive history. Unconditional logistic regression was used to estimate pooled odds ratios and 95% confidence intervals. After controlling for matching variables, study of origin and potential confounders, being born either small (OR 1.4 95% CI 1.0-2.0) or large (OR 1.5 95% CI 1.1-2.2) for gestational age and, among children younger than 18 months, having congenital malformations (OR 3.6 95% CI 1.3-8.9), were significantly associated with NB. Inverse associations were observed with breastfeeding (OR 0.7 95% CI 0.5-1.0) and maternal use of any supplements containing folic acid, vitamins or minerals (OR 0.5 95% CI 0.3-0.9) during the preconception period. Our findings reinforce the hypothesis that fetal growth anomalies and congenital malformations may be associated with an increased risk of NB. Further investigations are needed in order to clarify the role of folic acid supplementation and breastfeeding, given their potential importance in NB prevention.

  17. Value of multi-slice CT in patients with congenital inner ear malformation before cochlear implantation%多层螺旋CT在内耳畸形的人工耳蜗植入术前评估中的价值

    Institute of Scientific and Technical Information of China (English)

    吴琛; 熊玉伟; 周运锋

    2015-01-01

    目的:探讨多层螺旋CT在患有内耳畸形的人工耳蜗植入术前评估中的价值。方法:搜集我院因听力障碍拟行人工耳蜗植入的患者34例,所有患者均行多层螺旋CT检查。结果:34例患者中患内耳畸形的有10例共19耳,多数病耳合并多种畸形,其中耳蜗畸形8耳,前庭导水管扩大畸形8耳,前庭、半规管畸形4耳,内听道发育异常3耳。结论:多层螺旋CT扫描结合后处理技术可以更加准确地对内耳畸形做出诊断,在人工耳蜗植入术前具有重要的指导价值。%Objective:To evaluate the value of multi-slice CT in patients with congenital inner ear malformation before cochlear implantation .Methods:Multi-slice CT was performed in 34 patients with hearing impairment before cochlear implantation .Results:In 34 patients,inner ear malformation was de-tected in 10(19 ears),and more cases were complicated with multiple malformations,in which 8 cases were cochlear malformations,8 enlarged vestibular aqueduct malformation,4 vestibule and semi-circular canal malformations,and 3 internal auditory cannal malformations.Conclusion:Multi-slice CT can make accurate diagnosis of congenital inner ear malformations before cochlear implantation .

  18. 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.

  19. 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.

  20. Possible role of WT1 in a human fetus with evolving bronchial atresia, pulmonary malformation and renal agenesis.

    Science.gov (United States)

    Loo, Christine K C; Algar, Elizabeth M; Payton, Diane J; Perry-Keene, Joanna; Pereira, Tamara N; Ramm, Grant A

    2012-01-01

    The association of peripheral bronchial atresia and congenital pulmonary airway malformation (CPAM) has recently been recognised, but the pathology of the lesions evolving together has not been described. We present autopsy findings in a 20 week fetus showing areas of peripheral bronchial destruction and airway malformation consistent with developing CPAM in the right lung supporting a causal relationship between these lesions. This fetus also had congenital heart defect, bilateral renal agenesis and syndactyly. We identified another fetus from our autopsy files, with bilateral renal agenesis, similar right sided pulmonary malformation and cardiac defects. Similar bilateral renal agenesis and defects of the heart and lungs are found in wt1(-/-) mice and we have investigated the expression of WT1 in these fetuses. We hypothesise that the cardiac, liver, renal and possibly lung lesions in these two cases may arise due to mesenchymal defects consequent to WT1 misexpression and discuss evidence for this from the scientific literature. We used immunoperoxidase stains to analyse WT1 expression in autopsy hepatic tissue in both fetuses. We also investigated the expression of α-smooth muscle actin (α-SMA), a marker of activated hepatic stellate cells/myofibroblasts, and desmin in hepatic mesenchyme and compare these findings with control fetuses, without congenital malformations. We found reduced WT1 expression in hepatic mesothelium in both fetuses with malformations. There was also increased expression of α-SMA in liver perisinusoidal cells, as seen in the wt1(-/-) mouse model. We therefore propose that abnormality of WT1 signalling may be an underlying factor, as WT1 is expressed in coelomic lining cells from which mesenchyme is derived in many organs.

  1. Prenatal viral infectiotn and congenital cardiovascular malformations%胎儿病毒感染与先天性心血管畸形

    Institute of Scientific and Technical Information of China (English)

    赵青松

    2012-01-01

    先天性心血管畸形是小儿最常见的先天性心脏病,胎儿期病毒感染与其发生关系密切.先天性心脏病严重危害儿童身心健康,明确其病因对预防和治疗先天性心脏病有重要的意义.该文综述宫内病毒感染导致先天性心脏病的病因、病毒传播途径、发病机制及预防措施.%As the most common disease for children with congenital heart disease ( CHD),congenital cardiovascular malformations have been closely associated with prenatal viral infectiotn.It is important to clarify the etiology of these diseases because the levels of physical and mental health for children with CHD are seriously damaged,and it also improves the levels of preventing and treating these diseases.This review focuses on the way of infection,pathogenesis and prevention measures for intrauterine viral infections leading to CHD.

  2. One-cell zygote transfer from diabetic to nondiabetic mouse results in congenital malformations and growth retardation in offspring.

    Science.gov (United States)

    Wyman, Amanda; Pinto, Anil B; Sheridan, Rachael; Moley, Kelle H

    2008-02-01

    Fetuses of type 1 and 2 diabetic women experience higher incidences of malformations and fetal death as compared with nondiabetics, even when they achieve adequate glycemic control during the first trimester. We hypothesize that maternal diabetes adversely affects the earliest embryonic stage after fertilization and programs the fetus to experience these complications. To test this hypothesis, we transferred either one-cell mouse zygotes or blastocysts from either streptozotocin-induced diabetic or control mice into nondiabetic pseudopregnant female recipients. We then evaluated the fetuses at embryonic d 14.5 to assess fetal growth and the presence or absence of malformations. We found that fetuses from the diabetic mice transferred at the blastocyst stage but also as early as the one-cell zygote stage displayed significantly higher rates of malformations consistent with neural tube closure problems and abdominal wall and limb deformities. In addition, both these groups of fetuses were significantly growth retarded. To determine if this phenomenon was due to high glucose concentrations, two-cell embryos were cultured to a blastocyst stage in 52 mm D-glucose or L-glucose as an osmotic control, transferred into nondiabetic pseudopregnant mice, and examined at embryonic d 14.5. These embryos did not demonstrate any evidence of malformations, however, they did experience significantly higher rates of resorptions, lower implantation rates, and they were significantly smaller at embryonic d 14.5. In summary, exposure to maternal diabetes during oogenesis, fertilization, and the first 24 h was enough to program permanently the fetus to develop significant morphological changes.

  3. 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.

  4. 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

  5. Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development

    Science.gov (United States)

    Klar, Amar J. S.

    2016-01-01

    Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. To resolve this paradox, we invoke a chromosomal epigenetic mechanism for limb development. It is composed of a monochromatid gene expression phenomenon that we discovered in two fission yeasts with the selective chromosome copy segregation phenomenon that we discovered in mouse cells. Accordingly, one daughter cell inherits both expressed DLX5 copies while the other daughter inherits both epigenetically silenced ones from a single deterministic cell of the developing limb. Thus, differentiated daughter cells after further proliferation will correspondingly produce proximal/distal-limb tissues. Published results of a Chr. 7 translocation with a centromere-proximal breakpoint situated over 41 million bases away from the DLX locus, centromeric and DLX5-region inversions have satisfied key genetic and developmental biology predictions of the mechanism. Further genetic tests of the mechanism are proposed. We propose that the DNA double helical structure itself causes the development of sister cells' gene regulation asymmetry. We also argue against the conventionally invoked morphogen model of development. This article is part of the themed issue ‘Provocative questions in left–right asymmetry’. PMID:27821526

  6. Proteus Syndrome with Arteriovenous Malformation

    Directory of Open Access Journals (Sweden)

    Ali Asilian

    2017-01-01

    Full Text Available Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.

  7. Screening for congenital malformations by ultrasonography in the general population of pregnant women: factors affecting the efficacy

    DEFF Research Database (Denmark)

    Tabor, Ann; Zdravkovic, Milica Branislava; Perslev, Annette

    2003-01-01

    malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not...... of the staff were at work. CONCLUSIONS: Some team and work environment factors that may affect the detection rate of fetal abnormalities were identified and have been changed: appointments for screening have been reorganized, regular breaks for all the staff introduced and second opinions are given...

  8. Resolving the molecular basis of human malformation syndromes

    NARCIS (Netherlands)

    Celli, Iacopo

    2005-01-01

    With the unveiling of the human genome, the speed at which new genes are discovered has dramatically increased. Consequently disease gene identification is rapidly changing, moving from the cloning of unknown genes towards the mutation analysis of already cloned suitable candidate genes. In the

  9. Cerebellar Malformations and Cognitive Disdorders

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-10-01

    Full Text Available The behavioral developmental profile of 27 children and adults (17 males and 10 females with congenital cerebellar malformations was determined in a clinical, neuroradiological and neuropsychological study at the Scientific Institute 'E Medea', University of Milano, Italy.

  10. Refletindo sobre a malformação congênita Refectindo sobre la malformación congénita Reflecting about congenital malformation

    Directory of Open Access Journals (Sweden)

    Rosângela da Silva Santos

    2005-10-01

    Full Text Available O estudo constituiu-se em uma revisão bibliográfica sobre malformações congênitas. Os objetivos consistem em fazer um levantamento da produção de enfermagem sobre o tema, apresentando as atuais contribuições referente às questões relacionadas as malformações congênitas e propiciar uma reflexão da atuação dos profissionais de enfermagem frente esta situação. Como resultados a revisão localizou estudos que foram categorizados em unidades temáticas: percepção materna, questões familiares, projeto de monitorização e assistência de enfermagem nas anomalias específicas. A conclusão aponta que a assistência adequada a ser prestada à criança com malformação congênita, demanda além de treinamento técnico, habilidade e sensibilidade da equipe multidisciplinar, o que a torna capaz de perceber e intervir na dimensão bio psicossocial e espiritual da criança e da família.Este estudio se constituye en una revisión bibliográfica sobre malformaciones congénitas. Los objetivos consisten en realizar un levantamiento de la producción de enfermería sobre el tema, presentando las actuales contribuciones referentes a los problemas relacionados a malformaciones congénitas y propiciar una reflexión de la actuación de los profesionales de enfermería frente a esta situación. La revisión nos dio como resultados diversos estudios, que fueron categorizados en las siguientes unidades temáticas: percepción materna, problemas familiares, proyecto de monitorización y asistencia de enfermería en las anomalías específicas. La conclusión muestra que la asistencia adecuada a ser brindada al niño con malformación congénita, demanda, además de entrenamiento técnico, habilidad y sensibilidad del equipo multidisciplinar, lo que le vuelve capaz de percibir e intervenir en la dimensión bio-psicosocial y espiritual del niño y de la familia.The study consisted in a bibliographical revision about congenital malformations. The

  11. Experimental Infection of Sheep at 45 and 60 Days of Gestation with Schmallenberg Virus Readily Led to Placental Colonization without Causing Congenital Malformations.

    Directory of Open Access Journals (Sweden)

    Ludovic Martinelle

    Full Text Available Main impact of Schmallenberg virus (SBV on livestock consists in reproductive disorders, with teratogenic effects, abortions and stillbirths. SBV pathogenesis and viral placental crossing remain currently poorly understood. Therefore, we implemented an experimental infection of ewes, inoculated with SBV at 45 or 60 days of gestation (dg."Mourerous" breed ewes were randomly separated in three groups: eight and nine ewes were subcutaneously inoculated with 1 ml of SBV infectious serum at 45 and 60 dg, respectively (G45 and G60. Six other ewes were inoculated subcutaneously with sterile phosphate buffer saline as control group. All SBV inoculated ewes showed RNAemia consistent with previously published studies, they seroconverted and no clinical sign was reported. Lambs were born at term via caesarian-section, and right after birth they were blood sampled and clinically examined. Then both lambs and ewes were euthanatized and necropsied.No lambs showed any malformation suggestive of SBV infection and none of them had RNAemia or anti-SBV antibodies prior to colostrum uptake. Positive SBV RNA detection in organs was rare in both G45 and G60 lambs (2/11 and 1/10, respectively. Nevertheless most of the lambs in G45 (9/11 and G60 (9/10 had at least one extraembryonic structure SBV positive by RTqPCR. The number of positive extraembryonic structures was significantly higher in G60 lambs. Time of inoculation (45 or 60 dg had no impact on the placental colonization success rate but affected the frequency of detecting the virus in the offspring extraembryonic structures by the time of lambing. SBV readily colonized the placenta when ewes were infected at 45 or 60 dg but infection of the fetuses was limited and did not lead to congenital malformations.

  12. Diagnostic value of transvaginal three-dimensional ultrasound in congenital uterine malformation%经阴道三维超声在先天性子宫畸形中的诊断价值

    Institute of Scientific and Technical Information of China (English)

    吕群星; 黄晓民; 林鹏生; 王雄

    2015-01-01

    Objective:To discuss the diagnostic value of transvaginal three-dimensional ultrasound in congenital uterine malformation.Methods:35 patients with congenital uterine malformation were selected,the uterine malformation was confirmed by hysteroscopy and pathology,and the patients were retrospectively analyzed.Results:Three dimensional ultrasound of uterine coronal section imaging of the uterine cavity structure,muscle layer and the end of the palace of the shape of the image,to provide the basis for diagnosis of complex uterine malformation.Conclusion:Transvaginal three-dimensional is more conducive to congenital uterine malformations,can improve diagnostic accuracy.%目的:评价经阴道三维超声在先天性子宫畸形中的诊断价值。方法:收治先天性子宫畸形患者35例,并经宫腔镜检及手术后病理证实为子宫畸形,对经检查患者进行回顾分析。结果:三维超声子宫冠状切面成像对宫腔内结构、肌层及宫底的外形图像直观,对复杂性子宫畸形提供了诊断依据。结论:经阴道三维更有助于先天性子宫畸形的诊断,提高诊断准确率。

  13. 胎儿先天畸形终止妊娠后对患者的心理影响及社会支持%Psychological Influence and Social Supports in Women With Congenital Fetal Malformations After Termination of Pregnancy

    Institute of Scientific and Technical Information of China (English)

    廖书娟; 罗碧如

    2012-01-01

    胎儿先天畸形是指胎儿由于内在发育异常而引起的器官或身体某部位的形态学缺陷.大部分产前诊断为胎儿先天畸形的孕妇选择接受人工终止妊娠术治疗.终止妊娠后患者可出现焦虑、抑郁和悲伤情绪,而持续长时间或高水平的悲伤情绪常与缺乏有效社会支持有关.目前,对胎儿先天畸形终止妊娠后患者的治疗及护理主要集中于生理方面.作者拟就国外对胎儿先天畸形终止妊娠后女性的心理影响和社会支持的研究进展进行综述如下.%Congenital fetal malformations is a physical defect present in a fetus before birth.Most pregnant women with prediagnosis of congenital fetal malformations accept artificial abortion for treatment.After termination of pregnancy,women usually have emotional problems,such as anxiety,depression and sadness.These problems which can last long-term and high-level are related to lack of psychological and social supports.Nowadays,the treatment and nursing care of women with congenital fetal malformations are only focus on physiological needs after termination of pregnancy instead of social supports.This paper reviewed the psychological influence and social supports in women with congenital fetal malformations after termination of pregnancy.

  14. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

    2010-06-15

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  15. Human quadrupedalism is not an epiphenomenon caused by neurodevelopmental malformation and ataxia

    Directory of Open Access Journals (Sweden)

    Sibel eKaraca

    2012-10-01

    Full Text Available Two cases of individuals with quadrupedal locomotion (QL were presented. In both cases the brains and cognitive functions were normal and no neurological deficits were seen, except for a paralyzed leg in case 2. It was suggested that human QL (i should not be considered as an epiphenomenon caused by neurodevelopmental malformation and ataxia, but (ii may be considered as a re-emergence of the ancestral diagonal QL, and (iii it may spontaneously emerge in humans with entirely normal brains, by taking advantage of neural networks such as central pattern generators that have been preserved for about 400 million years.

  16. A Rare Case of Acroangiodermatitis Associated with a Congenital Arteriovenous Malformation (Stewart-Bluefarb Syndrome) in a Young Veteran: Case Report and Review of the Literature.

    Science.gov (United States)

    Archie, Mark; Khademi, Saieh; Aungst, David; Nouvong, Aksone; Freeman, Shanna; Gelabert, Hugh; Rigberg, David; deVirgilio, Christian; Lewis, Michael; O'Connell, Jessica

    2015-10-01

    Acroangiodermatitis (AD) is a rare angioproliferative disease manifesting with cutaneous lesions clinically similar to Kaposi's sarcoma. AD is a benign hyperplasia of preexisting vasculature and may be associated with acquired or congenital arteriovenous malformations (AVM), or severe chronic venous insufficiency (because of hypostasis, elevated venous pressure, arteriovenous shunting). Stewart-Bluefarb syndrome is the rare syndrome in which AD is associated with a congenital AVM. We present the case of a young veteran with a painful, chronic nonhealing ulcer and ipsilateral popliteal artery occlusion likely because of trauma, who elected transmetatarsal amputation for symptomatic relief. A 24-year-old male veteran presented with a 5-year history of a nonhealing dorsal left foot ulcer, resulting from a training exercise injury. He ultimately developed osteomyelitis requiring antibiotics, frequent debridements, multiple trials of unsuccessful skin substitute grafting, and severe unremitting pain. He noted a remote history of left digital deformities treated surgically as a child, and an AVM, previously endovascularly treated at an outside facility. Arterial duplex revealed somewhat dampened left popliteal, posterior tibial (PT), and dorsalis pedis (DP) artery signals with arterial brachial index of 1.0. CT angiography showed occlusion of the proximal to mid popliteal artery with significant calcifications felt initially to be a result of prior trauma. Pedal pulses were palpable and transcutaneous oxygen measurements revealed adequate oxygenation. Because of unremitting pain, the patient opted for amputation. Pathology revealed vascular proliferation consistent with AD. This case illustrates an unusual diagnosis of acroangiodermatitis, and a rare syndrome when associated with his underlying AVM (Stewart-Bluefarb syndrome). This resulted in a painful, chronic ulcer and was further complicated by trauma-related arterial occlusive disease. AD disease can hinder wound

  17. Clinical analysis of relationship between urinary tract infection and congenital malformalities of urinary tract in children%小儿泌尿系统感染与先天性泌尿系统畸形关系的临床分析

    Institute of Scientific and Technical Information of China (English)

    郑方芳; 刘晓红; 莫樱; 蒋小云; 宋洁; 周传新

    2016-01-01

    Objective To analyze the relationship between urinary tract infection (UTI)and congenital malformalities of urinary tract in children.Methods From January 2003 to December 2014,a total of 295 children with UTI in the First and the Fifth Affiliated Hospital of Sun Yat-sen University were included in the study.They were divided into malformalities group (n = 85,with congenital malformalities of urinary tract)and non-malformation group (n = 210,without congenital malformalities)according to their imageological examination results.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of First Affiliated Hospital of Sun Yat-sen University and Fifth Affiliated Hospital of Sun Yat-sen University.Informed consent was obtained from each participant′ parents.The clinical features were compared between two groups,including gender,age,fever,white blood cell count,erythrocyte sedimentation rate,frequency of infection, abnormal renal function and combination with other congenital malformalities. There were no significant differences between two groups in UTI severity and hospital stay (P >0.05). Results There were significant differences in gender,age≤30 days,frequency of infection (more than twice)and combination with other congenital malformalities(χ2 = 10.678,4.466,6.745,3.466;P 0.05)。结果两组 UTI 患儿在性别、发病年龄≤30 d、感染次数≥2次、合并其他先天性畸形方面比较,差异均有统计学意义(χ2=10.678、4.466、6.745、3.466,P <0.05)。畸形组患儿先天性泌尿系统畸形类型以膀胱输尿管返流为主(18.8%),其次为先天性肾积水(15.3%)和输尿管狭窄(11.8%)等。随访53例患儿中,10例(18.9%)接受手术治疗,其中,仅1例(1.89%)输尿管狭窄患儿于术后6个月复发 UTI。结论小儿UTI 与先天性泌尿系统畸形密切相关,反复 UTI、合并其他先天性畸形、发病年龄≤30 d的男性 UTI 患儿罹患先天性泌尿系统畸形的可能性较高。

  18. Pattern of malformations in the axial skeleton in human trisomy 18 fetuses

    Energy Technology Data Exchange (ETDEWEB)

    Kjaer, I. [Univ. of Copenhagen (Denmark); Hansen, B.F. [Hvidovre Univ. Hospital (Denmark); Keeling, J.W. [Royal Hospital for Sick Children, Edinburgh (United Kingdom)

    1996-11-11

    We examined and described the development and abnormalities of the axial skeleton in 10 human trisomy 18 fetuses. Whole-body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied. In 3 fetuses no spinal radiographs were available. Seven osseous regions or fields along the body axis were analyzed, four in the spine, and three in the cranial base and nasal bones. Malformations occurred in the occipital field in all fetuses. This was a characteristic notching, either unilateral or bilateral, of the basilar part of the occipital bone. Nasal bones were abnormal in 8 cases, either absent or hypoplastic. Malformations were found in the thoracic and/or lumbosacral field in 7 fetuses. A single abnormality was found in the cervical spine in one fetus. The pattern of axial skeletal malformation in trisomy 18 fetuses recorded in the present study has not been described previously. Axial skeletal radiography should be included in autopsies of fetuses when chromosome disorders are present or suspected. The methods applied here are unaffected by autolysis. 26 refs., 5 figs.

  19. Congenital cytomegalovirus infection in severe fetal malformations%巨细胞病毒宫内感染与胎儿严重畸形的相关性

    Institute of Scientific and Technical Information of China (English)

    林晓倩; 王景美; 刘景丽; 王志群; 戴毅敏; 李洁; 朱湘玉; 茹彤; 周乙华

    2015-01-01

    Objective To investigate cytomegalovirus (CMV) infection in severe fetal malformations detected by antenatal imaging and to determine the contribution of congenital CMV infection in fetal malformations.Methods From December 2007 to December 2014, 436 pregnant women in Nanjing and surrounding areas, who were found with severe fetal structural malformations by ultrasound and/or magnetic resonance imaging and opted to terminate pregnancy in Nanjing Drum Tower Hospital, were enrolled.Maternal and umbilical cord plasma samples were collected and tested for CMV IgG and IgM by commercial enzyme linked immunosorbent assay kits.A total of 436 fetuses underwent autopsy examinations.Postmortem tissues,including the kidney, lung, liver, skin, heart and placenta, cord blood leukocytes, umbilical cord plasma and amniotic fluid were collected and detected for CMV DNA by real-time polymerase chain reaction.Congenital CMV infection is diagnosed when CMV DNA is positive in fetal kidney tissue and/or CMV IgM is positive in fetal plasma.Data were analyzed by independent sample t test, Chi square test or Fisher's exact test where appropriate.Results Among the 436 fetuses, CMV DNA was positive in seven fetal kidney specimens.In addition, some of the lung, liver, skin, heart and placenta, cord blood leukocytes, and amniotic fluid of the seven fetuses were also CMV positive.Thus, these seven fetuses were diagnosed intrauterine CMV infection.Of 168 fetuses with multiple congenital malformations and 268 fetuses with malformation in single system, one (0.6%)and six (2.2%) cases were CMV infected, respectively.Among the fetuses with malformation in single system,CMV was positive in 6.1% (5/82) with central nervous system anomalies and 1/9 with gastrointestinal system anomalies, but was not detected in babies with anomalies in any other systems.Between the two groups of CMV-infected or non-CMV-infected fetuses, there were no significant differences in maternal age [(25.3 ±3.5)vs (28.4

  20. The Incidence of Congenital Malformation and the Analysis of Related Factors in Changzhi%山西某地区近年先天畸形发生情况及相关因素分析

    Institute of Scientific and Technical Information of China (English)

    贾书花; 王炯; 王改琴; 张旭东; 牛香兰; 田云; 霍小蕾

    2015-01-01

    目的::了解长治地区近年来先天性畸形的发生情况,探讨畸形发生的相关因素。方法:对8967例新生儿中151例先天畸形进行分析。结果:本次统计先天畸形发生率为168.40/万;畸形发生较高的依次为:神经管畸形、多并指(趾),唇、腭裂。未补充叶酸畸形发生率高于叶酸补充者(P <0.01),≥35岁产妇先天畸形儿发生率高于<35岁者(P <0.01);农村先天畸形发生率高于城市(P <0.01)。结论:先天畸形的发生除与普遍认知的叶酸缺乏相关外,还和父亲生活习惯、医疗条件、卵子及宫内环境、婚源等因素有关。因此,应重视评估父亲对后代的影响,防范有可能诱发畸形的其它因素,以避免先天畸形的发生。%Objective:To understand the incidence of congenital malformation of the region and its influencing factors and to explore the causes and preventive measures of deformity.Methods:151 congenital malformations among 8 967 newborns were analyzed in Obstetrics Department in HeJi Hospital Affiliated to Changzhi Medical College from January 2004 to December 2013.Results:The incidence of congenital malformation was 168.40/million.Higher incidence of malformations was:neural tube defects,finger (toe),cleft lip and cleft palate.Without the supplement of folic acid,the incidence rate of malformation was higher than those with the supplement of folic acid(P <0.01).The maternal congenital deformity rate of those≥35 years old was significantly higher than those<35 years old (P <0.01).The incidence of rural congenital malformation was higher than that of the city (P <0.01).Conclusion:Other than the well-known lack of folic acid,the occurrence of congenital malformation was also associated with the living habits of the father,medical conditions,the source of eggs and intrauterine environment,marriage and other factors.Therefore,the effects of the father to the future generations should be evaluated and paid

  1. Retrospective Analysis of the Relationship between the Outcomes of Chromosome Abnormalities and Congenital Malformations in 99 Cases%胎儿染色体异常与先天畸形类型关系的研究

    Institute of Scientific and Technical Information of China (English)

    张璘; 任梅宏; 张晓红; 宋桂宁; 王建六

    2013-01-01

    目的:通过对产前诊断中确诊的染色体异常并伴有先天器官畸形的相关资料分析,总结胎儿染色体异常与畸形部位和畸形比例的关系,为提高产前诊断率提供理论依据.方法:回顾性分析2006年1月至2011年12月在北京大学人民医院产前诊断中心诊断并随访证实的染色体异常伴先天畸形的99例患者的临床资料,综合分析不同畸形分类和染色体异常的关系及比率.结果:99例患儿中,常染色体异常76例(76.77%),其中常染色体三体征64例(21-三体38例,18-三体12例,13-三体8例,14-三体1例,16-三体3例,8-三体1例,22-三体1例),常染色体结构异常12例(染色体部分缺失4例,染色体部分三体征8例);性染色体数目或结构异常21例(男性性染色体异常12例,女性性染色体异常9例);三倍体2例.99例患儿中75.76% (75/99)存在1个或多个畸形,64.65%(64/99)同时存在2个或2个以上畸形,19.19%(19/99)同时存在5个或5个以上畸形;65.66% (65/99)伴有不同程度心脏畸形,61.62% (61/99)存在心外脏器畸形.结论:染色体异常可伴有众多基因的增加或减少,可同时伴有多种脏器畸形,不同染色体异常伴发脏器畸形的类型及比率也各不同.建议在产前检查中可疑胎儿脏器畸形者,应进一步行产前细胞遗传学诊断以排除染色体异常的患儿.%Objective:To analyse the clinical data of cases with congenital malformations and chromosome abnormalities,and to investigate the association between congenital malformations and chromosome abnormalities prenatal cases,and to provide base for improving prenatal diagnosis. Methods:The clinical data of cases with congenital malformations and chromosome abnormalities during Jan 2006 to Dec 2011 in the Center of Prenatal Diagnosis of Beijing University People's Hospital were analyzed retrospectively. The associations between the chromosomal karyotypes and the types of congenital malformations were

  2. A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.

    Science.gov (United States)

    Pacheco-Cuéllar, Guillermo; Gauthier, Julie; Désilets, Valérie; Lachance, Christian; Lemire-Girard, Marlène; Rypens, Françoise; Le Deist, Françoise; Decaluwe, Hélène; Duval, Michel; Bouron-Dal Soglio, Dorothée; Kokta, Victor; Haddad, Élie; Campeau, Philippe M

    2017-09-01

    Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein that converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia. Severe respiratory compromise secondary to lung hypoplasia and pulmonary hypertension, and intestinal obstruction led to their demise. We thus report the most severe phenotype described so far associated with PGM3 mutations. This CDG should be considered in the presence of skeletal dysplasia associated with severe immunodeficiency. © 2017 American Society for Bone and Mineral Research. © 2017 American Society for Bone and Mineral Research.

  3. The origin of congenital heart defects and the epigenetic programming of the healthy child

    NARCIS (Netherlands)

    S.A. Obermann-Borst (Sylvia)

    2013-01-01

    textabstractBirth defects are a global burden affecting 7% of births worldwide. Congenital heart defects (CHD) are the most common congenital malformation with approximately 1 million children born each year. It is not only the most frequent group of birth defects in human, but also the leading caus

  4. MRI of the lumbar spine at 7 Tesla in healthy volunteers and a patient with congenital malformations

    Energy Technology Data Exchange (ETDEWEB)

    Grams, Astrid E. [University Hospital Giessen and Marburg, Campus, Department of Neuroradiology, Giessen (Germany); University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Giessen, Justus Liebig University, Department of Neuroradiology, Giessen (Germany); Kraff, Oliver; Umutlu, Lale; Maderwald, Stefan; Ladd, Mark E.; Forsting, Michael [University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Essen, Department of Diagnostic and Interventional Radiology and Neuroradiology, Essen (Germany); Dammann, Philipp [University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Essen, Department of Neurosurgery, Essen (Germany); Gizewski, Elke R. [University Hospital Giessen and Marburg, Campus, Department of Neuroradiology, Giessen (Germany); University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany)

    2012-05-15

    The aim of this study was to evaluate sequences that are established at lower magnetic field strengths for lumbar spine imaging at 7 Tesla (7 T) MR imaging. The lumbar spine of five healthy volunteers and a patient with spina bifida and meningocele were evaluated at 7 T. The examination included a T2-TSE (turbo spin echo), a 3D-DESS (double-echo steady-state sequence), a 3D-CISS (constructive interference in steady-state sequence), and a 3D-VIBE (volumetric interpolated breath hold examination) sequence. Imaging quality was evaluated by two raters on a three-level scale. The assessment included visualization of intraforaminal structures, the cauda equina, facet joints, and any abnormalities. Contrast ratios for intervertebral discs/vertebral bodies, vertebral bodies/cerebrospinal fluid (CSF) and CSF/spinal cord were calculated. The 3D-VIBE sequence provided best differentiation between intraforaminal structures. Visualization of the facet joints was reliable with VIBE, DESS, and CISS. Individual nerve roots of the cauda equina could only be delineated with the 3D-CISS sequence. CISS and DESS provided good contrast between vertebral bodies and intervertebral discs. Contrast between CSF and vertebral bodies was most pronounced for the T2-TSE sequence. Sufficient contrast between CSF and the spinal cord was only achieved with the T2-TSE sequence. VIBE and DESS sequences demonstrated best the bony malformations. Visualization of the meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use. (orig.)

  5. MRI of the lumbar spine at 7 Tesla in healthy volunteers and a patient with congenital malformations.

    Science.gov (United States)

    Grams, Astrid E; Kraff, Oliver; Umutlu, Lale; Maderwald, Stefan; Dammann, Philipp; Ladd, Mark E; Forsting, Michael; Gizewski, Elke R

    2012-05-01

    The aim of this study was to evaluate sequences that are established at lower magnetic field strengths for lumbar spine imaging at 7 Tesla (7 T) MR imaging. The lumbar spine of five healthy volunteers and a patient with spina bifida and meningocele were evaluated at 7 T. The examination included a T2-TSE (turbo spin echo), a 3D-DESS (double-echo steady-state sequence), a 3D-CISS (constructive interference in steady-state sequence), and a 3D-VIBE (volumetric interpolated breath hold examination) sequence. Imaging quality was evaluated by two raters on a three-level scale. The assessment included visualization of intraforaminal structures, the cauda equina, facet joints, and any abnormalities. Contrast ratios for intervertebral discs/vertebral bodies, vertebral bodies/cerebrospinal fluid (CSF) and CSF/spinal cord were calculated. The 3D-VIBE sequence provided best differentiation between intraforaminal structures. Visualization of the facet joints was reliable with VIBE, DESS, and CISS. Individual nerve roots of the cauda equina could only be delineated with the 3D-CISS sequence. CISS and DESS provided good contrast between vertebral bodies and intervertebral discs. Contrast between CSF and vertebral bodies was most pronounced for the T2-TSE sequence. Sufficient contrast between CSF and the spinal cord was only achieved with the T2-TSE sequence. VIBE and DESS sequences demonstrated best the bony malformations. Visualization of the meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use.

  6. Application of spiral CT in the diagnosis of pediatric pectus excavatum associated with other congenital malformations%螺旋CT在儿童漏斗胸合并其它先天性畸形中的应用价值

    Institute of Scientific and Technical Information of China (English)

    沈杰; 彭芸; 曾骐; 张祺丰; 曾津津

    2011-01-01

    Objective: To evaluate the value of spiral CT in the diagnosis of pediatric pectus excavatum associated with other congenital malformations. Methods: The clinical and imaging materials of 283 patients having pectus excavatum were retrospectively analyzed. The varieties and distribution of associated congenital malformations were recorded. Results :Of the 283 patients with pectus excavatum,47 patients (16.61 % ) associated with congenital malformations. Scoliosis was the most common malformation and accounted for 4.95%. According to the body systcms,the incidence rates were listed as follows : skeletal and muscular system (8.48 % ) , respiratory system (5.65 % ) , cardiovascular system ( 1.77 % ) , urinary system (1.06%) , respectively. Conclusion: Detailed anatomical information for the diagnosis of pectus excavatum associated with congenital malformation could be assessed on spiral CT,which provided important and accurate information for operation planning.%目的:探讨螺旋CT在漏斗胸合并其它先天性畸形中的应用价值.方法:回顾性分析283例手术前行螺旋CT检查并采用螺旋CT重组技术的漏斗胸患儿临床及影像资料,分类记录漏斗胸患儿合并各种其它先天性畸形的种类及分布比例.结果:本组漏斗胸病例中合并其它先天性畸形47例,占16.61%.其中合并脊柱侧弯的比例最大(4.95%).按系统的分类发病率依次为骨骼与肌肉系统(8.48%)、呼吸系统(5.65%)、心血管系统(1.77%)、泌尿系统(1.06%).结论:螺旋CT可为漏斗胸患儿提供术前的全面分析和综合评估,有助于发现漏斗胸合并其它畸形,可为手术方案的制定提供重要依据.

  7. Impacto das malformações congênitas na mortalidade perinatal e neonatal em uma maternidade-escola do Recife Impact of congenital malformations on perinatal and neonatal mortality in an university maternity hospital in Recife

    Directory of Open Access Journals (Sweden)

    Melania Maria Ramos de Amorim

    2006-05-01

    Full Text Available OBJETIVOS: determinar a incidência de malformações congênitas em recém-nascidos assistidos em uma maternidade-escola de Recife e avaliar o impacto destas malformações na mortalidade perinatal e neonatal. MÉTODOS: realizou-se um estudo longitudinal durante os meses de setembro de 2004 a maio de 2005, analisando-se todos os partos assistidos no Instituto Materno Infantil Prof. Fernando Figueira, IMIP. Determinou-se a freqüência e o tipo de malformações congênitas e foram calculados os coeficientes de mortalidade fetal, mortalidade perinatal, mortalidade neonatal precoce e tardia. RESULTADOS: a freqüência de malformações foi de 2,8% (em 4043 nascimentos. O percentual de malformações entre os nativivos foi de 2,7%, e entre os natimortos foi de 6,7%. Dentre as malformações, as mais freqüentes foram as do sistema nervoso central (principalmente hidrocefalia e meningomielocele, as do sistema osteomuscular e as cardiopatias. Não houve associação entre malformações e sexo, porém a freqüência de prematuridade e baixo peso foi maior entre os casos de malformações. Constatou-se, entre os malformados, mortalidade neonatal precoce de 32,7% e tardia de 10,6%. Os casos de malformações representaram 6,7% dos natimortos, 24,2% das mortes neonatais precoces e 25,8% do total de mortes neonatais. CONCLUSÕES: a freqüência de malformações correspondeu a 2,8% dos nascimentos. As malformações representaram a segunda causa mais freqüente de mortes neonatais, depois da prematuridade.OBJECTIVES: to determine the incidence of congenital malformations in newborns in a university maternity hospital in Recife and assess the impact of malformation in perinatal and neonatal mortality. METHODS: a longitudinal study was performed from September 2004 to May 2005 with all deliveries at the Instituto Materno Infantil Prof. Fernando Figueira, IMIP analyzed. The type and incidence of congenital malformations were determined, and fetal mortality

  8. 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...

  9. Indigenous Medicine Use for Sex Selection During Pregnancy and Risk of Congenital Malformations: A Population-Based Case-Control Study in Haryana, India.

    Science.gov (United States)

    Neogi, Sutapa Bandyopadhyay; Negandhi, Preeti H; Sandhu, Navraj; Gupta, Ravi Kant; Ganguli, Abhijit; Zodpey, Sanjay; Singh, Amarjeet; Singh, Arun; Gupta, Rakesh

    2015-09-01

    Congenital malformations (CMFs) are a major public health problem in India. Consanguineous marriages, infections during pregnancy, folic acid deficiency during the periconceptional period, exposure to pesticides and a history of intake of drugs during pregnancy have been hypothesized as risk factors. Drugs include oral contraceptive pills, progesterone analogues, medications for ailments and indigenous drugs to bear male offspring. It is important to analyze the risk factors in order to implement preventive measures. The prime objective of this study was to study the risk factors of visible structural CMFs, with a focus on indigenous medicines for sex selection. A population-based, case-control study was undertaken in Haryana state. Cases included children (0-18 months) with any apparent structural deformity as reported by various Government sources. A consecutive birth from the same area as the case was labelled and included as the control. The sample size calculated was 175 in each group. Mothers of every case and control were interviewed at their respective homes using a structured tool. Descriptive analysis, bivariate analysis, followed by logistic regression was conducted to establish the association between risk factors and CMFs. The sociodemographic profiles of the cases and controls were similar. Among the various risk factors studied, more than two living children (unadjusted odds ratio [OR] 1.6, 95 % CI 1.04-2.4) and intake of sex-selection drugs (unadjusted OR 2.8, 95 % CI 1.6-5.1) were significant risk factors on bivariate and regression analyses. The risk of having a child with CMFs was threefold more among mothers with a history of intake of indigenous medicines for sex selection (adjusted OR 3; 95 % CI 1.7-5.6). The intake of indigenous drugs during pregnancy increased the risk of CMFs almost threefold. This has social as well as economic implications, and hence needs further investigation.

  10. Pregnancy and infant outcomes including major congenital malformations among women with chronic inflammatory arthritis or psoriasis, with and without etanercept use.

    Science.gov (United States)

    Carman, Wendy J; Accortt, Neil A; Anthony, Mary S; Iles, Janet; Enger, Cheryl

    2017-09-01

    Objectives were to quantify prevalence estimates of pregnancy and infant outcomes including major congenital malformations (MCMs) by etanercept (ETN) exposure among infants born to women with chronic inflammatory arthritis (cIA) or psoriasis (PsO). Claims-based data delineated pregnancy exposures and outcomes of live or nonlive births among women with cIA and PsO (ETN exposed, unexposed) and general population (GP) comparators. Infant outcomes were determined for live-born infants covered by the mother's insurer. Medical records were obtained from all accessible mother-infant pairs with claims for MCMs and a random sample of mothers. Multivariable logistic regression estimated the odds ratios (ORs) of having at least one algorithm-defined MCM in the ETN-exposed cohorts versus unexposed comparators. Prevalence estimates for pregnancy outcomes were comparable across cIA and PsO cohorts. Algorithm-defined prevalence estimates of having at least one MCM were 6.1% (ETN exposed), 5.5% (unexposed), and 5.7% (GP cohort) for the cIA cohort; PsO cohort estimates were 2.0%, 4.2%, and 4.7%, respectively. The ETN-exposure ORs for having at least one algorithm-defined MCM among infants of cIA mothers was 1.03 (95%CI: 0.51-2.10) and 0.39 (95%CI: 0.05-2.98) among infants of PsO mothers. Logistic regression with inverse probability of treatment weighting that included disease state resulted in an OR of 0.65 (0.24, 1.72). Overall, this study did not identify any new safety concerns associated with the use of etanercept during pregnancy. Etanercept, along with the other TNFis, remains a treatment without well-controlled clinical trials in pregnant women. Patients should continue to consult their doctor regarding benefit risk decisions of TNFi therapy during pregnancy. Copyright © 2017 John Wiley & Sons, Ltd.

  11. 先天性并指畸形治疗的回顾性分析%Retrospective study of treatment in malformation congenital syndactyly

    Institute of Scientific and Technical Information of China (English)

    吴迪; 路来金; 宣昭鹏; 崔建礼; 孙希光; 贾晓燕

    2013-01-01

    目的 探讨先天性并指畸形的治疗体会,规范治疗方法,提高治愈率.方法 对我院近两年收治的30例先天性并指畸形患者,采用游离植皮及皮瓣等6种手术方法进行分指.以掌背侧顺行推进皮瓣、掌背侧逆行岛状皮瓣、五角推进皮瓣、局部“V-Y-W”推进皮瓣及菱形皮瓣重建指蹼;以“Z”形和全厚皮片修复指体.结果 本组24例总体治疗效果满意,其余6例行二次手术,其中植皮坏死3例,手指瘢痕屈曲挛缩2例,指蹼创面感染、继发瘢痕增生形成不全并指1例.结论 并指的手术时机应选择在出生后6个月~2年,并指的手术设计应注重指蹼的重建,重建的方法应首选掌背侧顺行或逆行皮瓣转移术;指体修复应选择全厚皮片,以预防手指的屈曲挛缩.%Objective To discuss the treatment experience of congenital symphysodactylia,standardize treatment method,improve the efficiency of treatment.Methods Summarize 30 cases with malformation congenital syndactyly in nearly 2 years in my hospital,used free skin graft and flap to separate the fingers in 6 kinds of surgical methods.By using the dorsal metacarpal anterograde advancing flap,palm dorsal retrograde island flap,the pentagon pushed flap,local V-Y-W promoting skin flap and rhomboid flap for reconstruction the web; with Z shape and skin repair the body finger.Results This group of 24 patients overall treatment effect was satisfactory.There were 6 cases for needing secondary surgery,skin graft necrosis in 3 cases,scar finger flexion contracture in 2 cases,the webbed wound infection,secondary to scar hyperplasia formation in 1 case.Conclusion The operation time of congenital should be chosen after the 6 months to 2 years,the operation should pay attention to the reconstruction of the web-fingered,reconstruction of surgical methods should be preferred palm dorsal anterograde and retrograde flap transfer operation,The repair of fingers should choose the piece

  12. Impact of chiasma opticum malformations on the organization of the human ventral visual cortex.

    Science.gov (United States)

    Kaule, Falko R; Wolynski, Barbara; Gottlob, Irene; Stadler, Joerg; Speck, Oliver; Kanowski, Martin; Meltendorf, Synke; Behrens-Baumann, Wolfgang; Hoffmann, Michael B

    2014-10-01

    Congenital malformations of the optic chiasm, such as enhanced and reduced crossing of the optic nerve fibers, are evident in albinism and achiasma, respectively. In early visual cortex the resulting additional visual input from the ipsilateral visual hemifield is superimposed onto the normal retinotopic representation of the contralateral visual field, which is likely due to conservative geniculo-striate projections. Counterintuitively, this organization in early visual cortex does not have profound consequences on visual function. Here we ask, whether higher stages of visual processing provide a correction to the abnormal representation allowing for largely normal perception. To this end we assessed the organization patterns of early and ventral visual cortex in five albinotic, one achiasmic, and five control participants. In albinism and achiasma the mirror-symmetrical superposition of the ipsilateral and contalateral visual fields was evident not only in early visual cortex, but also in the higher areas of the ventral processing stream. Specifically, in the visual areas VO1/2 and PHC1/2 no differences in the extent, the degree of superposition, and the magnitude of the responses were evident in comparison to the early visual areas. Consequently, the highly atypical organization of the primary visual cortex was propagated downstream to highly specialized processing stages in an undiminished and unchanged manner. This indicates largely unaltered cortico-cortical connections in both types of misrouting, i.e., enhanced and reduced crossing of the optic nerves. It is concluded that main aspects of visual function are preserved despite sizable representation abnormalities in the ventral visual processing stream.

  13. Neurological congenital malformations in a tertiary hospital in south Brazil Malformações neurológicas congênitas observadas em hopsital terciário no sul do Brasil

    Directory of Open Access Journals (Sweden)

    Ana Guardiola

    2009-09-01

    Full Text Available BACKGROUND: Congenital anomalies are one of the main causes of morbidity and mortality among infants. The involvement of the central nervous system (CNS occurs in 21% of cases. OBJECTIVE: To identify incidence of CNS malformations and associated factors in newborns at a Terciary Hospital of Porto Alegre. METHOD: Case-control study conducted between 2000 and 2005 based on the Latin American Collaborative Study of Congenital Malformations database. RESULTS: Among 26,588 births registered in this period, 3.67% presented with malformations (IC=95%; 3.44-3.9, being 0.36% of the CNS (IC=95%,(0.29-0.43. The most common CNS malformation was meningomielocele (10.4%. Young maternal age (p=0.005; low birth weight (p=0.015; large cephalic perimeter (p=0.003; post term birth (p=0.000 and low APGAR indexes at the 1st and 5th minutes were associated with CNS malformations. CONCLUSION: We found an incidence of CNS malformations similar as compared to literature.Anomalias congênitas são umas das principais causas de morbimortalidade infantil. O sistema nervoso central (SNC é acometido em 21% dos casos. OBJETIVO: Identificar a incidência e fatores associados a malformações do SNC em recém nascidos na maternidade de um hospital terciário de Porto Alegre. MÉTODO: Estudo controle realizado de janeiro de 2000 a dezembro de 2005, baseado no banco de dados do Estudo Colaborativo Latino Americano de Malformações Congênitas. RESULTADOS: Dos 26.588 nascimentos, 3,67% apresentaram malformação (IC=95%; 3,44-3,9, com 0,36% do SNC (IC=95%, (0,29-0,43. A malformação do SNC mais comum foi hidrocefalia (10,9%. Menor idade materna (p=0,005; menor peso ao nascimento (p=0,015, maior perímetro cefálico (p=0,003; nascimentos pré-termo (p=0,000 e menores índice APGAR no 1º e 5º minutos (p<0,000 apresentaram associação com malformações do SNC. CONCLUSÃO: Foi encontrada incidência similar de malformações do SNC comparada à literatura.

  14. High-resolution computerized tomography appearances of congenital malformations of the external and middle ear%先天性外中耳畸形的高分辨率CT表现

    Institute of Scientific and Technical Information of China (English)

    刘广保; 聂玉霞; 谭子琨

    2013-01-01

    Objective To evaluate the value of clinical application of high-resolution computerized tomography (HRCT) in the diagnose of congenital malformations of the external and middle ear.Methods The imaging data of 40 congenital malformations of the external and middle ear patients with HRCT were collected and analyzed retrospectively.All the temporal bones were scanned with HRCT.All images were targeted using high-bone-detail algorithms.Results 13 cases of external ear abnormalities were found,including 1 case of accessory auricle,1 case of accessory with stenosis of external acoustic meatus,3 cases of stenosis of external acoustic meatus,5 cases of externai auditory canal bony atresia and 3 cases of external auditoer canal atresia film,8 cases of middle ear abnormalities,17 cases of external and middle ear malformation,2 cases of external,middle and inner ear malformation.Conclusion External ear malformation and middle ear malformation are usually unilateral,while enlargement of vestibular aqueduct is bilateral.Congenital atresia of external acoustic meatus is the most common type in the external ear malformation.HRCT can provide clear images of temporal bone and auditory ossicles,which help us diagnose the malformations of external ear,middle ear and osseous labyrinth.%目的 探讨不同类型的先天性外中耳畸形的高分辨率CT(HRCT)的诊断价值.方法 收集诊断为先天性外中耳畸形患者40例的影像学资料进行回顾性研究,所有患者均行HRCT扫描,骨算法成像.结果 在本研究的40例先天性外中耳畸形患者中,单纯外耳畸形13例,其中副耳1例,副耳合并外耳道狭窄1例,外耳道狭窄3例,外耳道骨性闭锁5例,外耳道膜性闭锁3例,单纯中耳畸形8例,外耳并中耳畸形17例,外耳、中耳及内耳混合畸形2例.结论 外耳畸形及中耳畸形单侧发病常见,外耳、中耳畸形常同时发生.外耳畸形中先天性外耳道闭锁常见,中耳畸形以听骨链异常常见.HRCT对

  15. Congenital malformations of the supratentorial brain. Pt. 2. Disorders of the corpus callosum and holoprosencephalies; Kongenitale Malformationen des Grosshirns. Teil 2: Entwicklungsstoerungen des Balkens und Holoprosenzephalien

    Energy Technology Data Exchange (ETDEWEB)

    Rummeny, C. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany); Institut fuer klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Marchioninistrasse 15, 81377, Muenchen (Germany); Ertl-Wagner, B.; Reiser, M.F. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany)

    2003-11-01

    The corpus callosum is formed between the 7th and the 20th gestational week. If this process is disrupted, partial or complete callosal agenesis may ensue. As large parts of the supra- and infratentorial brain are created druing this critical period, associated anomalies need always to be searched for when callosal agenesis is present. Associations with neuro-genetic syndromes also exist. The corpus callosum is generally formed from front to back (''front-to-back rule''). Therefore, a partial callosal agenesis usually involves the posterior portion of the corpus callosum, while a secondary lesion of the corpus callosum does not follow this rule. Holoprosencephalies are a notable exception to this rule, as the frontal part of the corpus callosum is absent in spite of their classification as congenital malformations. They represent a disturbance of the differentiation and cleavage of the prosencephalon with a disruption of the separation of the cerebral hemispheres. Holoprosencephalies can be due to genetic causes, but also to intrauterine infections or other teratogenic causes. The holoprosencephalies are subdivided into alobar, semilobar and lobar holoprosencephalies. This article aims to describe the most important features of callosal agenesis and holoprosencephalies highlighting the respective imaging characteristics. (orig.) [German] Die Anlage des Balkens findet in der 7.-20. Woche nach Gestation statt. Stoerungen in dieser Entwicklungsphase koennen zu einer Balkenagenesie oder zu einer Balkenhypogenesie fuehren. Da in diesem Entwicklungsstadium grosse Anteile des Gross- und Kleinhirns angelegt werden, muss immer nach assoziierten Anlagestoerungen gesucht werden. Ebenso treten auch Kombinationen mit genetisch bedingten Syndromen auf. Die Entwicklung des Balkens folgt der sog. anterioren-posterioren Sequenz (''front-to-back rule''). Sekundaere Schaedigungen bei der Balkenentwicklung folgen dieser Regel nicht, und lassen

  16. CT manifestations of congenital cystic adenomatoid malformation of the lung%先天性肺囊性腺瘤样畸形的CT表现

    Institute of Scientific and Technical Information of China (English)

    苏金亮; 周利民; 纪建松; 王祖飞; 赵中伟; 张文伟; 刘建平

    2012-01-01

    目的:探讨先天性肺囊性腺瘤样畸形的CT表现.方法:回顾性分析15例先天性肺囊性腺瘤样畸形的CT表现,并与手术、病理结果对照.结果:15例先天性肺囊性腺瘤样畸形CT表现为大囊型10例、小囊型5例.病理检查见囊腔为异常增生的管腔或腺样结构,壁内被覆假复层纤毛柱状上皮8例,纤毛柱状及立方上皮7例;囊周可见平滑肌及弹性纤维环绕,15例囊壁内均未见软骨成分及腺体.结论:CT检查是诊断先天性肺囊性腺瘤样畸形的可靠方法,根据CT表现可推测其病理分型.%Objective:To study the CT manifestations of congenital cystic adenomatoid malformation (CCAM) of the lung. Methods:CT findings in 15 patients with CCAM were retrospectively reviewed,and correlated with the surgical and pathological reaults. Results :CT manifestations of 15 cases with CCAM included large cystic type in 10 cases and small cystic type in 5 cases. The pathologic findings showed that the cyst was paraplasmic glandular or bronchiolar structures, cyst wall was lined with ciliated pseudostratified columnar epithelium in 8 cases and lined by cuboid to columnar epithelium in 7 cases. The cyst wall contained smooth muscle and elastic tissue. Cartilage plates were not present in all cases. Conclusion:CT is a reliable method in diagnosing CCAM. Based on imaging manifestations observed on CT, the pathologic type of CCAM might be predicted.

  17. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Science.gov (United States)

    Royer-Bertrand, Beryl; Castillo-Taucher, Silvia; Moreno-Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos-Xavier, Belinda; Girardi, Enrico; Superti-Furga, Giulio; Bonafé, Luisa; Rivolta, Carlo; Unger, Sheila; Superti-Furga, Andrea

    2015-01-01

    We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malformations, and for which we propose the name of EVEN-PLUS syndrome for epiphyseal, vertebral, ear, nose, plus associated findings. In three individuals from two families, no mutation in LONP1 was found; instead, we found biallelic mutations in HSPA9, the gene that codes for mHSP70/mortalin, another highly conserved mitochondrial chaperone protein essential in mitochondrial protein import, folding, and degradation. The functional relationship between LONP1 and HSPA9 in mitochondrial protein chaperoning and the overlapping phenotypes of CODAS and EVEN-PLUS delineate a family of “mitochondrial chaperonopathies” and point to an unexplored role of mitochondrial chaperones in human embryonic morphogenesis. PMID:26598328

  18. Congenital tracheobiliary fistula.

    NARCIS (Netherlands)

    Croes, F.; Nieuwaal, N.H. van; Heijst, A.F.J. van; Enk, G.J. van

    2010-01-01

    Congenital tracheobiliary fistula is a rare malformation that can present with a variety of respiratory symptoms. We present a case of a newborn patient with a tracheobiliary fistula and severe respiratory insufficiency needing extracorporal membrane oxygenation to recover.

  19. Pulmonary malformation in transgenic mice expressing human keratinocyte growth factor in the lung.

    Science.gov (United States)

    Simonet, W S; DeRose, M L; Bucay, N; Nguyen, H Q; Wert, S E; Zhou, L; Ulich, T R; Thomason, A; Danilenko, D M; Whitsett, J A

    1995-01-01

    Expression of human keratinocyte growth factor (KGF/FGF-7) was directed to epithelial cells of the developing embryonic lung of transgenic mice disrupting normal pulmonary morphogenesis during the pseudoglandular stage of development. By embryonic day 15.5(E15.5), lungs of transgenic surfactant protein C (SP-C)-KGF mice resembled those of humans with pulmonary cystadenoma. Lungs were cystic, filling the thoracic cavity, and were composed of numerous dilated saccules lined with glycogen-containing columnar epithelial cells. The normal distribution of SP-C proprotein in the distal regions of respiratory tubules was disrupted. Columnar epithelial cells lining the papillary structures stained variably and weakly for this distal respiratory cell marker. Mesenchymal components were preserved in the transgenic mouse lungs, yet the architectural relationship of the epithelium to the mesenchyme was altered. SP-C-KGF transgenic mice failed to survive gestation to term, dying before E17.5. Culturing mouse fetal lung explants in the presence of recombinant human KGF also disrupted branching morphogenesis and resulted in similar cystic malformation of the lung. Thus, it appears that precise temporal and spatial expression of KGF is likely to play a crucial role in the control of branching morphogenesis during fetal lung development. Images Fig. 1 Fig. 2 Fig. 3 PMID:8618921

  20. 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.

  1. Observation of the human fetal corpses with maxillofacial malformations. 1. CT and MRI examinations of the fetal cleft lip and/or palate

    Energy Technology Data Exchange (ETDEWEB)

    Saito, Chikara; Nakano, Yoko; Shigematsu, Shiro [Tokyo Dental Coll., Chiba (Japan)] (and others)

    1999-06-01

    Of the various types of congenital malformations, the cleft lip and/or palate is one of the most frequent. Observation of human fetal corpses exhibiting cleft lip and palate is very important to research on its onset of its mechanism and development. In recent years, some of researchers have performed clinical studies on prenatal diagnosis and surgical treatment for the entirey. However, there have hardly been any reports on detailed observations of the maxillofacial structure of a fetus with cleft lip and palate. We seized an opportunity of observing the maxillofacial structure of fetuses with cleft lip and/or palate using three-dimensional CT (3D-CT) and MR imaging as non-disjunctive methods. In the present study, nine fetal corpses having cleft lip and/or palate were examined. The results were as follows: CT and MRI were useful for non-invasive observation of the maxillofacial structure, including soft tissues. Because the osseous tissues of young fetus tissue is not fully mature, observation of bone structures was slightly difficult. When corpses were immersed in formalin for a long time, osseous tissue was decalcified, thus making it difficult to obtain clear images. We could observe the details of the maxillofacial structures such as the alveolar process, the hard palate, the maxillary sinus, the nasal cavity, the nasal bone, and the vomer, in some of the cases. 3D-CT and MR findings observed in the fetuses with cleft lip and/or palate should provide some basement of the imaging diagnosis of congenital disorder. (author)

  2. 先天性消化道畸形影响因素的病例对照研究%Influential factors on congenital gastrointestinal malformation: a hospital-based case-control study

    Institute of Scientific and Technical Information of China (English)

    姜雪锦; 许光; 申丽君; 吴静; 陈辉; 王友洁

    2014-01-01

    Objective To investigate the influential factors on congenital gastrointestinal malformation and to provide evidences for prevention.Methods A hospital-based case-control study was conducted among infants with or without congenital gastrointestinal malformation at Children's hospital of Hunan province,from April 2011 to August 2012.Parents of 120 cases with congenital gastrointestinal malformation and another 170 controls were asked to fill in a questionnaire.Data was analyzed using SPSS 18.0 software.Results Congenital gastrointestinal malformation was associated with intakes of maternal medication (OR=3.35,95%CI:1.51-7.41) and folic acid (OR=0.28,95%CI:0.15-0.52),exposure to paints (OR=5.05,95%CI:1.32-19.29) and pesticides (OR=15.20,95%CI:1.55-148.99) prior to or during pregnancy,and also associated with medication intake of the father (OR=3.70,95%CI:1.13-12.10),smoking (OR=2.39,95%CI:1.24-4.62),drinking alcohol (OR=2.47,95%CI:1.20-5.07),exposure to the agents for indoor cleaning (OR=16.42,95% CI:1.71-157.92) and exposure to paints (OR=9.92,95% CI:2.66-36.98) before conception.Conclusion Congenital gastrointestinal malformation was affected by multiple factors.Potential risk factors for congenital gastrointestinal malformation would include intakes of medication by the pregnant mother,exposure to paints exposure and pesticide exposure before or during pregnancy,and medication intake by the father,smoking,drinking alcohol,exposure to indoor cleaning agents/paint before conception.The amount of folic acid intake by mother before or during pregnancy was likely to reduce the risk for congenital gastrointestinal malformation.%目的 探讨先天性消化道畸形发病的影响因素,为预防先天性消化道畸形发病提供参考.方法 采用以医院为基础的病例对照研究方法,对2011年4月至2012年8月在湖南省儿童医院住院的120例先天性消化道畸形患儿及同期同科室住院的170例非先天性消化道畸形

  3. ADVANCED MAGNETIC RESONANCE IMAGING OF CEREBRAL CAVERNOUS MALFORMATIONS: I. HIGH FIELD IMAGING OF EXCISED HUMAN LESIONS

    Science.gov (United States)

    Shenkar, Robert; Venkatasubramanian, Palamadai N.; Zhao, Jin-cheng; Batjer, H. Hunt; Wyrwicz, Alice M.; Awad, Issam A.

    2008-01-01

    Objectives We hypothesized that structural details would be revealed in cerebral cavernous malformations (CCMs) through the use of high field magnetic resonance (MR) and confocal microscopy, which have not been described previously. The structural details of CCMs excised from human patients were sought by examination with high field MR imaging, and correlated with confocal microscopy of the same specimens. Novel features of CCM structure are outlined, including methodological limitations, venues for future research and possible clinical implications. Methods CCM lesions excised from four patients were fixed in 2% paraformaldehyde and subjected to high resolution MR imaging at 9.4 or 14.1 Tesla by spin-echo and gradient recalled echo methods. Histological validation of angioarchitecture was conducted on thick sections of CCM lesions using fluorescent probes to endothelium under confocal microscopy. Results Images of excised human CCM lesions were acquired with proton density-weighted, T1-weighted, T2-weighted spin echo and T2*-weighted gradient-recalled echo MR. These images revealed large “bland” regions with thin walled caverns, and “honeycombed” regions with notable capillary proliferation and smaller caverns surrounding larger caverns. Proliferating capillaries and caverns of various sizes were also associated with the wall of apparent larger blood vessels in the lesions. Similar features were confirmed within thick sections of CCMs by confocal microscopy. MR relaxation times in different regions of interest suggested the presence of different states of blood breakdown products in areas with apparent angiogenic proliferative activity. Conclusions The high field MR imaging techniques demonstrate novel features of CCM angioarchitecture, visible at near histological resolution, including regions with apparently different biologic activity. These preliminary observations will motivate future research, correlating lesion biologic and clinical activity with

  4. Congenital absence of the portal vein in a child with Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

    2006-06-15

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  5. Congenital malformations in Rio de Janeiro, Brazil: prevalence and associated factors Malformações congênitas no Município do Rio de Janeiro, Brasil: prevalência e fatores associados a sua ocorrência

    Directory of Open Access Journals (Sweden)

    Cláudia Maria da Silva Costa

    2006-11-01

    Full Text Available This study aims to estimate the prevalence of congenital malformations and their correlation with socioeconomic and maternal variables. The design was cross-sectional, based on a sample of 9,386 postpartum women after admission for childbirth in maternity hospitals in the city of Rio de Janeiro, Brazil. Data were collected through interviews with mothers in the immediate postpartum, as well as by consulting the patient records of both the mothers and newborn infants. Prevalence of congenital malformations at birth was 1.7%, and minor malformations were the most frequent. Neural tube defects were the most frequent major malformations. According to multivariate analysis, congenital malformations were statistically associated with: maternity hospitals belonging to or outsourced by the Unified National Health System (SUS and inadequate prenatal care (¾ 3 visits. This study highlights the importance of measures for health promotion and disease prevention in childbearing-age women, with special attention to prenatal care and childbirth, which can directly influence neonatal indicators and prevention of birth defects.Este trabalho tem como objetivo estimar a prevalência ao nascimento das malformações congênitas e sua associação com escolaridade e outras características maternas. Trata-se de um estudo seccional, a partir de uma amostra de 9.386 puérperas hospitalizadas em maternidades do Município do Rio de Janeiro, Brasil, no momento do parto, no período de 1999 a 2001. Os dados foram coletados através de entrevistas com as mães, no pós-parto imediato, assim como consulta aos prontuários das puérperas e dos recém-nascidos. A prevalência ao nascimento de malformação congênita foi de 1,7% e as malformações menores foram as mais freqüentes (polidactilia e pé torto congênito. Os defeitos de fechamento do tubo neural foram as principais anomalias maiores detectadas. Na análise multivariada, a anomalia congênita esteve associada

  6. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    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.

  7. Gene expression signatures in the peripheral blood after radiosurgery of human cerebral arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Zabel-du Bois, Angelika [Dept. of Radiation Oncology, German Cancer Research Center, Heidelberg (Germany); Dept. of RadioOncology, Univ. of Heidelberg (Germany); Wagner-Ecker, Mechthild; Schwager, Christian; Wirkner, Ute; Huber, Peter E. [Dept. of Radiation Oncology, German Cancer Research Center, Heidelberg (Germany); Milker-Zabel, Stefanie; Debus, Juergen [Dept. of RadioOncology, Univ. of Heidelberg (Germany); Abdollahi, Amir [Dept. of Radiation Oncology, German Cancer Research Center, Heidelberg (Germany); Dept. of RadioOncology, Univ. of Heidelberg (Germany); Center of Cancer Systems Biology, Tufts Univ. School of Medicine, Boston, MA (United States)

    2010-02-15

    Purpose: To unravel biological mechanisms potentially resulting in the obliteration process after radiosurgery (RS) of human cerebral arteriovenous malformations (AVMs) by investigating molecular signatures on the transcriptomic level in peripheral blood of patients. Patients and Methods: Venous blood samples were obtained at definite points of time before and after RS. The samples were tested for radiation-induced changes regarding biological markers (mRNA) using cDNA and oligo-microarray technology. The corresponding expression profiles were correlated with clinical data and obliteration signs in radiologic imaging. Results: The proof of principle that RS outcome can be successfully correlated with transcriptomics of cellular blood components as disease parameter was demonstrated. The authors identified 76 differentially regulated genes (p < 0.001) after RS. Interestingly, in particular genes with known roles in antiangiogenic and procoagulative pathways were identified as potentially relevant. In particularly, the authors found a significant downregulation of neuropilin-2, protein C inhibitor and cyclin-dependent kinase 6. They also found that low pretreatment blood mRNA levels of TLR4 (toll-like receptor 4) and STAT3 (signal transducer and activator of transcription 3) correlated with fast obliteration of AVMs. Conclusion: The authors report on a novel technique for molecular biological analysis of blood from patients with cerebral AVM treated with RS. Differential regulation of genes in peripheral blood was successfully correlated with RS and time to obliteration of AVMs. The identified genes indicate a potential new methodology to monitor RS, which may result in an individualized therapy and optimized follow-up. (orig.)

  8. Thoracic skeletal defects and cardiac malformations: a common epigenetic link?

    Science.gov (United States)

    Weston, Andrea D; Ozolins, Terence R S; Brown, Nigel A

    2006-12-01

    Congenital heart defects (CHDs) are the most common birth defects in humans. In addition, cardiac malformations represent the most frequently identified anomaly in teratogenicity experiments with laboratory animals. To explore the mechanisms of these drug-induced defects, we developed a model in which pregnant rats are treated with dimethadione, resulting in a high incidence of heart malformations. Interestingly, these heart defects were accompanied by thoracic skeletal malformations (cleft sternum, fused ribs, extra or missing ribs, and/or wavy ribs), which are characteristic of anterior-posterior (A/P) homeotic transformations and/or disruptions at one or more stages in somite development. A review of other teratogenicity studies suggests that the co-occurrence of these two disparate malformations is not unique to dimethadione, rather it may be a more general phenomenon caused by various structurally unrelated agents. The coexistence of cardiac and thoracic skeletal malformations has also presented clinically, suggesting a mechanistic link between cardiogenesis and skeletal development. Evidence from genetically modified mice reveals that several genes are common to heart development and to formation of the axial skeleton. Some of these genes are important in regulating chromatin architecture, while others are tightly controlled by chromatin-modifying proteins. This review focuses on the role of these epigenetic factors in development of the heart and axial skeleton, and examines the hypothesis that posttranslational modifications of core histones may be altered by some developmental toxicants.

  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 malformations of the supratentorial brain. Pt. 1. Disorders of cortical development; Kongenitale Malformationen des Grosshirns. Teil 1: Entwicklungsstoerungen des Kortex

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany); Institut fuer klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Marchioninistrasse 15, 81377, Muenchen (Germany); Rummeny, C.; Reiser, M.F. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany)

    2003-11-01

    Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development. (orig.) [German] Entwicklungsstoerungen des Kortex werden in der Regel eingeteilt in Stoerungen der zellulaeren Proliferation und Apoptose, der neuronalen Migration und der kortikalen Organisation. Basierend auf neueren molekularbiologischen und histopathologischen Erkenntnissen wurde vor kurzem eine modifizierte Klassifikation eingefuehrt. Zu den Stoerungen der neuronalen und glialen Proliferation und Apoptose werden nun die Mikrolissenzephalie und andere Formen der Mikrozephalie, die Megalenzephalien, die kortikalen Hamartome der tuberoesen Sklerose, die kortikalen Dysplasien mit Ballonzellen und die Hemimegalenzephalie gezaehlt. Zu den neuronalen Migrationsstoerungen rechnet man das Spektrum der Lissenzephalien, einschliesslich der bandfoermigen Heterotopien, die Pflastersteinlissenzephalien sowie die Gruppe der Heterotopien. Unter Organisationsstoerungen des Kortex subsumiert man den Komplex

  11. Lung development in congenital diaphragmatic hernia : an experimental study in a rat model of pulmonary hypoplasia and congenital diaphragmatic hernia induced by Nitrofen

    NARCIS (Netherlands)

    A.E. Brandsma (Annelies)

    1995-01-01

    textabstractApproximately 3% of human neonates are born with one or multiple congenital malformations (Nadler 1986). The birth of a child with a physical or mental handicap presents considerable problems with which both parents and the child must cope and raises questions about the cause. Despite ou

  12. The expression and significance of TGF-β1 in congenital cystic adenomatoid malformation of the lung%先天性肺囊性腺瘤样畸形中TGF-β1的表达及意义

    Institute of Scientific and Technical Information of China (English)

    王利群; 蔡凤梅; 周玲玲; 王宗敏; 王卉芳; 王亚楼

    2012-01-01

    目的:探讨转化生长因子-β1(transforming growth factor beta 1,TGF-β1)在儿童先天性肺囊性腺瘤样畸形(congenitalcystic adenomatoid malformation of lung,CCAM)中的表达及意义.方法:选择6月~15岁的儿童CCAM手术存档蜡块标本52例为病例组,同时以不同时期(12~39周)人胚胎肺组织15例和正常儿童(2月~15岁)肺组织9例作为对照组,用免疫组织化学EliVision法检测TGF-β1蛋白的表达,用原位杂交方法检测TGF-β1 mRNA的表达.结果:TGF-β1蛋白主要表达在上皮和间质细胞的细胞浆中,而TGF-β1 mRNA主要表达于支气管周围平滑肌、囊壁平滑肌及血管平滑肌中,上皮细胞未见表达.与对照组相比,TGF-β1蛋白和mRNA在CCAM病例组中的表达均明显增强,差异具有统计学意义(P<0.05或P<0.01); CCAM Ⅰ、Ⅱ、Ⅲ型之间两两比较,TGF-β1蛋白和mRNA的表达差异均无统计学意义(P>0.05).结论:TGF-β1在正常胚胎肺及儿童肺组织中表达较弱,而在CCAM中表达明显增强,提示TGF-β1的过表达参与CCAM的发生发展过程,可以作为进一步研究的目标.%OBJECTIVE: To investigate the expression of TGF-13 1 in congenital cystic adenomatoid malformation of the lung(CCAM) and its role in the formation of CCAM. METHODS: The diseased group included 52 cases of congenital cystoadenomatoid malformation of lung (6 m-15 y), 9 cases of normal lungs (2 m-15 y)and 15 fetal lungs at varying gestational ages (12-39 w) as the control group. Immunohistochemical staining (EliVision) was used to detect the proteins of TGF- β 1, hybridization in situ to detect the mRNA of TGF-β 1 in every tissue of CCAM, normal pediatric lungs and fetal lungs. RESULTS: The protein of TGF- β 1 was mainly expressed in celluar cytoplasm of pulmonary epithelial cells and mesenchymal cells. The expression of TGF-β 1 mRNA located in cytoplasm of smooth muscle cells surrounding the bronchus and cysts. The expression level of TGF- β 1 and TGF- (3

  13. Malformación congénita de la vía aérea pulmonar: Reporte de un caso adulto Congenital pulmonary airway malformation: An adult case report

    Directory of Open Access Journals (Sweden)

    CARLOS ÁLVAREZ Z

    2009-01-01

    Full Text Available La malformación congénita de la vía aérea pulmonar (MCVAP, llamada también malformación congénita adenomatoidea quística que compromete al pulmón es una anomalía embrionaria. La MCVAP es de rara presentación en la infancia y es excepcional en los adultos. En este artículo comunicamos el caso de un hombre adulto con MCVAP y presentamos una breve revisión sobre esta condición. Caso clínico: Hombre de 23 años de edad con varios episodios de neumonía y de síndrome bronquial obstructivo en su niñez. El paciente se quejaba de dolor torácico pleurítico, malestar general y fiebre. En el examen físico se encontró disminución del murmullo pulmonar en la parte inferior del hemitórax derecho, abundantes crepitaciones y matidez. La radiografía y la tomografia computada de tórax (TC revelaron múltiples imágenes hidro-aéreas complejas en el pulmón derecho. Debido a la falta de respuesta al tratamiento médico, se practicó una lobectomía inferior derecha. La histopatología demostró una MCVAP tipo 1. Después de ser dado de alta el paciente presentó una fístula broncopleural, la cual fue tratada exitosamente con una segunda intervención quirúrgica. Tres años después de la cirugía el paciente está asintomático. Discusión: La MCVAP es una malformación congénita hamartomatosa muy poco frecuente. En adultos es excepcional. La técnica diagnóstica de elección es la TC de tórax. Considerando el alto potencial neoplásico de esta malformación, su tratamiento debe ser la resección quirúrgica, incluso si el paciente está asintomático.Congenital pulmonary airway malformation or CPAM (congenital cystic adenomatoid malformation that involve the lung is an embryonic anomaly. CPAM is a rare condition in chilhood, and even more so in adulthood. In this article we report the case of a young adult man with CPAM and present a brief review about this condition. Case study: 23 years old man with several episodes of pneumonia

  14. Clinical Congenital Middle Ear Malformation and Its Relationship with Hearing Loss%先天性中耳畸形的临床分型及其与耳聋的相关性研究

    Institute of Scientific and Technical Information of China (English)

    王霞

    2015-01-01

    目的:探讨先天性中耳畸形的临床分型及其与耳聋的相关性。方法将我院入院治疗的42例(62耳)先天性中耳畸形患者纳入本研究,对本组患者均进行详细的手术检查,分析患者中耳畸形状态。结果经过记性检查,可能有听骨链畸形表现,还有面神经骨管暴露与面神经异常的表现。本组听力学检查结果显示本组患者主要为锤砧骨畸形(31例),11例未蜗窗畸形与前庭窗畸形,11例患者畸形程度相对复杂,伴随走形异常与面神经结构异常。结论先天性中耳畸形根据其组织的来源,可以分为不同的类型,在临床研究中需要分析高频与听阈问题,结合CT检查结果与骨导变化结果进行分析,这能够为合理手术提供合理的临床依据,提升治疗的安全性。%Objective To investigate the correlation between the clinical classification of congenital malformation of the middle ear and hearing loss.Methods In our hospital, 42 cases of hospitalized patients (62 ears) were included in the study of patients with congenital malformation of the middle ear, for this group of patients were examined with the operation, analysis of patients with middle ear malformation state.Results after a check, there may be the ossicular chain deformity, and facial nerve canal and facial nerve exposed to abnormal performance. Results Showed that the group of audiological examination were mainly for the hammer incus deformity (31 cases), 11 cases without cochlear window deformity and vestibular window deformity, 11 cases of patients with deformity complicated with abnormal shape, facial nerve and abnormal structure.Conclusion Congenital middle ear malformation according to the source of its organization, can be divided into different types, in clinical research needs analysis of high frequency and threshold problem, combined with the results of CT and bone changes were analyzed, which can provide the basis for

  15. Brain Malformations

    Science.gov (United States)

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  16. 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.

  17. 先天性主动脉缩窄合并心血管发育畸形的综合影像学诊断%Imaging diagnosis of congenital aortic coarctation accompanied with cardiovascular malformation

    Institute of Scientific and Technical Information of China (English)

    赵宏亮; 宦怡; 郑敏文; 魏梦绮

    2012-01-01

    Objective To evaluate the value of dual-source CT(DSCT) , thransthoracic echocardiography (TTE) , magnetic resonance imaging(MRI) ,and angiocardiogarphy(ACG) in diagnosing congenital aortic coarctation.Methods All 60 patients with congenital aortic coarctation confirmed by operation underwent DSCT and TTE, 17 and 7 of 60 patients underwent ACG and MRI simultaneously, respectively.The imaging appearances of congenital aortic coarctation at imaging examinations were analyzed retrospectively.Results In comparison with the results of operation, the accurate rates in revealing coarctation of were 100% by DSCT and ACG, 4 6.6% by TTE and 57% by MRI, while aortic arch in revealing accompanied cardiovascular malformation were 89.6% and 85.9% respectively by DSCT and TTE, 100% by MRI and ACG.The accurate rate in diagnosing cardiac ventricular malformation by TTE was obviously high than DSCT,but in diagnosing extra-cardiac great vascular malformation was lower by TTE than DSCT and ACG.Conclusion Because the sensitivity of TTE combined with DSCT in diagnosing congenital aortic coarctation is 100% , it will be a po tential means to replace ACG.%目的 对比评价双源CT(DSCT)、经胸超声心动图(TTE)、磁共振成像(MRI)及心血管造影(ACG)检查在诊断先天性主动脉缩窄的价值.方法 经手术证实60例患有先天主动脉缩窄的患者,术前均做过DSCT、TTE检查,其中17例做过选择性造影检查,7例做过MRI检查,回顾性分析归纳其影像学特点.结果 DSCT及ACG显示弓部缩窄手术符合率为100%,TTE手术符合率仅为46.6%,MRI手术符合率为57%,DSCT诊断的手术符合率等同于ACG.合并畸形DSCT诊断的手术符合率为89.6%,TTE诊断的手术符合率为85.9%,MRI诊断手术符合率为100%,ACG诊断的手术符合率为100%.TTE诊断心室内畸形手术符合率明显高于DSCT检查,诊断心外大血管畸形手术符合率低于DSCT及ACG.结论 在主动脉缩窄及合并心室内畸形诊断上,TTE检查

  18. Prevention of congenital malformations and other adverse pregnancy outcomes with 4.0 mg of folic acid : community-based randomized clinical trial in Italy and the Netherlands

    NARCIS (Netherlands)

    Bortolus, Renata; Blom, Fenneke; Filippini, Francesca; van Poppel, Mireille N. M.; Leoncini, Emanuele; de Smit, Denhard J.; Benetollo, Pier Paolo; Cornel, Martina C.; de Walle, Hermien E. K.; Mastroiacovo, Pierpaolo

    2014-01-01

    Background: In 2010 a Cochrane review confirmed that folic acid (FA) supplementation prevents the first-and second-time occurrence of neural tube defects (NTDs). At present some evidence from observational studies supports the hypothesis that FA supplementation can reduce the risk of all congenital

  19. No effects of dioxin singly on limb malformations in macaque monkeys through epidemiological and treated studies

    Energy Technology Data Exchange (ETDEWEB)

    Asaoka, Kazuo; Iida, Hiroko [Kyoto Univ. (Japan). Primate Research Insitute, Dept. of Molecular and Cellular Biochemistry; Watanabe, Kunio [Kyoto Univ. (Japan). Primate Research Institute, Field Research Center; Goda, Hiroshi [Towa Kagaku Co., Ltd. (Japan); Ihara, Toshio; Nagata, Ryoichi [Shin Nippon Biomedical Laboratories, Ltd. (Japan). Safety Research Facility; Yasuda, Mineo [Hiroshima International Univ. (Japan). Fac. of Health Sciences, Dept. of Clinical Engineering; Kubata, Shunichiro [Tokyo Univ. (Japan). Dept. of Life Science, Graduate School of Arts and Sciences

    2004-09-15

    Human populations exposed with highly dioxin were suspected to be caused immunological dysfunctions, carcinogenesis, and developmental and reproductive dysfunctions. Because of species resemblances, the dioxin effects have been investigating using monkeys as a model for assessment of dioxin exposure on human health. Since 1957 the limb malformations of monkeys in Japan have been reported. The higher frequency of them was found in provisional groups of monkeys who were given the same kind of food for human. The chromosomal abnormalities are excluded from the factor for the congenital limb malformations that are still producing in Japan. In this study, the relations between dioxin and the limb malformations of macaque monkeys were estimated by the epidemiological and administered researches. The dioxin levels in monkeys were measured at two districts that one has the provisional groups including monkeys with limb malformations and the other has breeding groups never seeing the malformations for a long time. TEQ was calculated by the levels of dioxin isomers in the monkeys and the values show no difference between the two places and between the individuals with and without the limb malformations. 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) was administered via subcutaneous to pregnant rhesus monkeys from the day 20 of gestation to the day 90 after birth. The exposed babies, including the offspring and died in neonatal, had observed normal limbs in the range of 30-300 ng TCDD /kg of body weight.

  20. Arteriovenous Malformation of the Pancreas

    Directory of Open Access Journals (Sweden)

    Alexandros Charalabopoulos

    2011-01-01

    Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

  1. Anorectal malformations in neonates

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2011-01-01

    Full Text Available Background : Anorectal malformations (ARM are associated with congenital anomalies and other risk factors, yielding a poor prognosis, especially in neonatal life. Objectives: This study was performed to identify the congenital anomalies as a factor of poor prognosis (mortality in such patients. Settings: Department of Pediatric surgery, The Children′s Hospital and The Institute of Child Health, Lahore. Design: Prospective observational study, with statistical support. Materials and Methods: The information on the demography, clinical features, investigations, management performed, and outcome was entered in the designed proforma and analysed with the help of statistical software EpiInfo version 3.5.1. Statistical test: Chi-square test was used to determine statistical significance of the results. Results : Of 100 neonates with ARM, 77 were male and 23, female (3.4:1. The mean age at presentation was 3.4 days (range, 12 hrs to 28 days. In 60 patients (60%, the presentation was imperforate anus without a clinically identified fistula. In 28 patients (28%, associated anomalies were present. The common associated anomalies were urogenital (10%, cardiovascular (8%, and gastrointestinal (6%. Down′s syndrome was present in 8 (8% patients. A total of 15 (15% deaths occurred in this study. In patients having associated congenital anomalies, 11 deaths occurred, whereas, 4 deaths were in patients without associated anomalies (P < 0.5. Conclusion : The mortality is higher in neonates with ARM having associated congenital anomalies.

  2. DLG3/SAP102 protein expression in malformations of cortical development: a study of human epileptic cortex by tissue microarray.

    Science.gov (United States)

    Qu, Mingqi; Aronica, Eleonora; Boer, Karin; Fällmar, David; Kumlien, Eva; Nistér, Monica; Wester, Kenneth; Pontén, Fredrik; Smits, Anja

    2009-03-01

    The human DLG3 gene encodes the synapse-associated protein 102 (SAP102), which is concentrated in the postsynaptic densities of excitatory synapses and involved in receptor-mediated synaptic transmission via binding to the NR2B subunit of the NMDA receptor. In this study, we investigated the expression and cellular distribution of the DLG3/SAP102 protein in human epileptic cortex. Tissue microarrays of a large number of specimens from patients operated for medically intractable epilepsy were used for immunohistochemical screening with anti-DLG3 antibody. The cellular distribution of the protein was further investigated in samples of malformations of cortical development, and the amount of DLG3 protein in the total homogenate and in the postsynaptic membrane fraction of these samples was quantified by Western blot. We found a strictly neuronal expression of DLG3/SAP102 in epileptogenic cortex as well as in non-epileptic human cortex used for control. In focal cortical dysplasia and tuberous sclerosis complex, the protein was expressed in most neurons including dysplastic neurons, but not in giant cells. Increased expression of DLG3 protein was observed in the postsynaptic membrane fraction of patients with focal cortical dysplasia. Double-labeling experiments confirmed the exclusive neuronal character of the DLG3 expressing cells and the co-localization of the DLG3 protein with the NR2B subunit. Our results suggest a putative role for DLG3/SAP102 in cortical hyperexcitability and epileptogenicity of malformations of cortical development.

  3. Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

    Science.gov (United States)

    Duran, Daniel; Jin, Sheng Chih; DeSpenza, Tyrone; Nelson-Williams, Carol; Cogal, Andrea G; Abrash, Elizabeth W; Harris, Peter C; Lieske, John C; Shimshak, Serena JE; Mane, Shrikant; Bilguvar, Kaya; DiLuna, Michael L; Günel, Murat; Lifton, Richard P; Kahle, Kristopher T

    2016-01-01

    OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression. Sequencing revealed a novel, de novo DD2-causing 462 bp deletion disrupting exon 3 of OCRL1 and a maternally inherited, extremely rare (ExAC allele frequency 8.4×10−6) damaging missense mutation in INPP5B (p.A51V). This mutation substitutes an evolutionarily conserved amino acid in the protein’s critical PH domain. In silico analyses of mutation impact predicted by SIFT, PolyPhen2, MetaSVM and CADD algorithms were all highly deleterious. Together, our findings report a novel association of DD2 with Chiari I malformation and syringohydromyelia, and document the effects of digenic mutation of human OCRL paralogs. These findings lend genetic support to the hypothesis that impaired ciliogenesis may contribute to the development of Chiari I malformation, and implicates OCRL-dependent PIP3 metabolism in this mechanism. PMID:28018608

  4. Congenital bicuspid aortic valve in an English bulldog.

    Science.gov (United States)

    Visser, Lance C; Scansen, Brian A

    2013-03-01

    A bicuspid aortic valve (BAV) demonstrating moderate valvular stenosis and mild insufficiency was identified in an asymptomatic 1-year-old male cryptorchid English bulldog by transthoracic and transesophageal echocardiography. The BAV was most consistent with type 3 morphology, based upon human classification. Pulmonary valve dysplasia with mild pulmonary stenosis and a suspected persistent left cranial vena cava were also identified. Although BAV is the most common congenital cardiac malformation in humans, it is rare in the dog.

  5. Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique

    Directory of Open Access Journals (Sweden)

    Clarke Kieran

    2004-12-01

    Full Text Available Abstract Background Congenital heart defects are the leading non-infectious cause of death in children. Genetic studies in the mouse have been crucial to uncover new genes and signaling pathways associated with heart development and congenital heart disease. The identification of murine models of congenital cardiac malformations in high-throughput mutagenesis screens and in gene-targeted models is hindered by the opacity of the mouse embryo. Results We developed and optimized a novel method for high-throughput multi-embryo magnetic resonance imaging (MRI. Using this approach we identified cardiac malformations in phosphatidylserine receptor (Ptdsr deficient embryos. These included ventricular septal defects, double-outlet right ventricle, and hypoplasia of the pulmonary artery and thymus. These results indicate that Ptdsr plays a key role in cardiac development. Conclusions Our novel multi-embryo MRI technique enables high-throughput identification of murine models for human congenital cardiopulmonary malformations at high spatial resolution. The technique can be easily adapted for mouse mutagenesis screens and, thus provides an important new tool for identifying new mouse models for human congenital heart diseases.

  6. 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...

  7. Frequencies of congenital malformations: assessment and prognosis of 52,744 births in three cities of Colombia Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas

    Directory of Open Access Journals (Sweden)

    Nicolás Fernández

    2010-03-01

    Full Text Available Introduction. The Instituto de Genética Humana of the Pontificia Universidad Javeriana conducted an epidemiological surveillance of congenital malformations as defined by criteria provided by the Latin American Collaborative Study of Congenital Malformations.
    Objective. The frequency of the main congenital malformations were tabulated for major urban centers in Colombia.
    Materials and methods. Information was gathered from 52,744 newborns between April 2001 and January 2008 in three cities of Colombia (Bogotá, Ubaté and Manizales. Data included the age of mother, gestational age, gender and weight of the newborn and the congenital malformation. Cases were classified according to a prognostic scale to assess the impact of health team interventions in the recovery process.
    Results. Congenital defects were noted in 3.1% of the newborns. The most frequent congenital defects were those of the ears. Clubfoot, polydactyly and cleft lip or palate were more common amongst males. The weight and gestational age were lower in the congenitally affected in comparison with the control group. The prognostic scale of congenital malformations indicated that most of these patients are at high risk of death or disability and that the intervention of the health team changed the patient´s prognosis in approximately 80% of the cases.
    Conclusion. Frequencies of congenital malformations in Colombia were similar to those reported in other countries. The interventions of the health team in treating patients with congenital malformations directly affected patient prognosis. Therefore, early diagnosis and adequate interdisciplinary treatment were recommended by these data in order to reduce disability and improve the quality of life of these patients.Introducción. El Instituto de Genética Humana, de la Pontificia Universidad Javeriana, desarrolla un programa de vigilancia de malformaciones congénitas con metodologías modificadas del Estudio

  8. Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography

    Science.gov (United States)

    Deniz, Engin; Jonas, Stephan; Hooper, Michael; N. Griffin, John; Choma, Michael A.; Khokha, Mustafa K.

    2017-01-01

    Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease. Here, we coupled the frog Xenopus tropicalis with Optical Coherence Tomography (OCT) to create a fast and efficient system for testing craniocardiac candidate genes. OCT can image cross-sections of microscopic structures in vivo at resolutions approaching histology. Here, we identify optimal OCT imaging planes to visualize and quantitate Xenopus heart and facial structures establishing normative data. Next we evaluate known human congenital heart diseases: cardiomyopathy and heterotaxy. Finally, we examine craniofacial defects by a known human teratogen, cyclopamine. We recapitulate human phenotypes readily and quantify the functional and structural defects. Using this approach, we can quickly test human craniocardiac candidate genes for phenocopy as a critical first step towards understanding disease mechanisms of the candidate genes. PMID:28195132

  9. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2014-11-15

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in

  10. Análisis de las malformaciones congénitas detectadas por el programa alfafetoproteína-ultrasonido genético Analysis of the congenital malformations detected by the alpha-fetoprotein-genetic ultrasound program

    Directory of Open Access Journals (Sweden)

    Aicha Julia Llamos Paneque

    2007-03-01

    Full Text Available La alfafetoproteína es una glicoproteína específica del plasma fetal, cuya determinación en suero materno se realiza entre las 15 y 19 semanas de gestación. Para conocer el comportamiento del programa alfafetoproteína-ultrasonido genético en el municipio 10 de Octubre se realizó esta investigación. En ella se encontró que 862 gestantes presentaron alfafetoproteína elevada en suero materno en el período analizado, y las principales causas encontradas dependientes de la madre fueron: el error en la fecha de última menstruación, seguida de la amenaza de aborto; y las malformaciones congénitas más frecuentemente encontradas fueron los defectos de cierre del tubo neural, seguidos de las malformaciones cardiovasculares.The alpha-fetoprotein is a specific glycoprotein of the fetal plasma, whose determination in maternal serum is performed from the 15th to the 19th week of gestation. This research was conducted to know the behavior of the alpha-fetoprotein-genetic ultrasound program in “10 de Octubre” municipality. It was found that 108 pregnant women presented elevated alpha-fetoprotein in maternal serum during the analyzed period. The main causes depending on the mother were: error in the date of the last menstruation and threatened abortion. The most frequent congenital malformations were the defects of the neural tube closure, and the cardiovascular malformations.

  11. Transvaginal Three-dimensional Ultrasound Uterine Angiography in the Diagnosis of Congenital Uterine Malformation%经阴道三维超声宫腔造影对先天性子宫畸形的诊断价值

    Institute of Scientific and Technical Information of China (English)

    张忠德; 赖胜坤

    2016-01-01

    目的::对经阴道三维超声宫腔造影对先天性子宫畸形的诊断价值进行评价分析,为收治的疑似子宫畸形患者39例,进行宫腔内生理盐水灌注后行经阴道三维超声宫腔造影检查,为临床诊断工作提供有价值的参考信息。方法:选择2013年1月~2015年6月间某院收治的疑似子宫畸形患者39例,对其展开宫腔内生理盐水灌注后行经阴道三维超声宫腔造影检查,并以宫腔镜、腹腔镜检查结果为依据进行对照分析。结果:本组患者有7例患者确诊为完全纵膈子宫,有21例患者确诊为不完全纵膈子宫,9例患者确诊为双角子宫,2例患者确诊为单角子宫,经三维超声宫腔造影检对阴道查子宫畸形诊断的准确率为100%。结论:经阴道三维超声宫腔造影检查可准确判断子宫畸形及其类型,操作简单易行,临床价值显著值得关注并推广使用。%Objective:To analyze and evaluate transvaginal three-dimensional ultrasound uterine angiog-raphy in the diagnosis of congenital uterine malformation.Receive 39 patients with suspected uterine malfor-mation and then treat them with uterine cavity imaging of transvaginal three-dimensional ultrasound after imbuing with normal saline,aiming to offer to offer valuable reference for clinical diagnosis.Methods:Select 39 patients with suspected uterine malformation treated in a hospital from January 2013 to June 2015 and then treat them with uterine cavity imaging of transvaginal three-dimensional ultrasound after imbuing with normal saline.finally compare the resulats checked by hysteroscopy and laparoscopy.Results:Among the pa-tients,7 were diagnosed mediastinum uterus completely,21 patients diagnosed with incomplete mediastinum uterus,9 cases diagnosed with double angle of uterus,2 patients diagnosed with single angle uterus.Uterine cavity imaging by three-dimensional ultrasound screening for vaginal uterine malformation diagnostic accura-cy was 100

  12. Clinical value of echocardiography in diagnosing of congenital cardiovascular malformation fetus%超声心动图诊断胎儿先天性心血管畸形的临床价值

    Institute of Scientific and Technical Information of China (English)

    关海天

    2014-01-01

    目的:研究使用超声心动图对于诊断胎儿先天性心血管畸形的重要意义,总结概括出现误诊以及漏诊的原因,提高诊断准确率。方法本院通过对10981例进行产前胎儿超声心动图检查的孕妇研究总结,通过对产前超声诊断结果与孕妇产后的超声心动图诊断以及被认为是畸形胎儿的尸体解剖结果进行比对,确定超声心动图诊断的价值。结果2981例孕妇中有107例(3.60%)胎儿检出先天性心血管异常。在这107例胎儿中,单纯性三尖瓣反流胎儿有77例(72.57%),心腔内强回声光斑胎儿9例(8.73%),左室假腱索胎儿6例(5.60%),结构性心血管异常胎儿11例(10.28%),单纯性肺动脉瓣反流胎儿2例(1.87%),其中有11例孕妇选择引产。结论胎儿超声心动图是一种有效的胎儿先天性心脏病产前检查方法,有利于降低先天性心脏病患儿的出生率。%Objective To study significance of echocardiography in diagnosing congenital cardiovascular malformation fetus and sum up the reasons of misdiagnosis and missed diagnosis to improve the diagnostic accuracy. Methods There were 2981 cases of pregnant women for prenatal fetal echocardiography in our hospital for research summary, through to the prenatal ultrasound diagnosis of pregnant women with postpartum echocardiography diagnosis and is considered to be one of the malformation fetus compare the autopsy results, determine the value of echocardiography in the diagnosis. Results Out of 2981 cases of pregnant women, 107 patients (3.60%) of fetal congenital cardiovascular anomaly detection. In the 398 cases of fetus, simple tricuspid regurgitation in 77 patients (72.57%), fetal heart cavity the strong echo light fetal 9cases (8.73%), left ventricular false chordae tendineae6 cases (5.60%), fetal structural cardiovascular abnormalities fetus 11 cases (10.28%), idiopathic pulmonary valve regurgitation in fetal 2 cases (1.87%), including 11 cases of

  13. Venous malformations: clinical diagnosis and treatment.

    Science.gov (United States)

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W; Khademhosseini, Ali; Oklu, Rahmi

    2016-12-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies.

  14. 女性生殖管道发育异常225例临床分析%Clinical analysis of 225 women with congenital uterine malformation

    Institute of Scientific and Technical Information of China (English)

    王世军; Mandakini Oli; 蒋励; 王建六; 魏丽惠

    2008-01-01

    目的 探讨子宫发育异常的发病情况、临床特征、诊治方法及其对生育的影响.方法 选取1990年3月-2005年1月北京大学人民医院收治的子宫发育异常患者225例的临床资料,进行回顾性分析,总结不同类型子宫发育异常的构成比、临床特征、诊治方法及对生育的影响.结果 (1)225例子宫发育异常患者中,中隔子宫125例,占55.6%,其中122例(97.6%,122/125)患者妊娠,但影响其妊娠结局,出现流产、胎位异常、早产、前置胎盘、胎膜早破等并发症.(2)双子宫51例,占22.7%(51/225);其中50例(98%,50/51)患者妊娠,对妊娠无明显影响;5例(10%,5/51)合并泌尿系统畸形.(3)残角子宫26例(11.6%,26/225),发生残角子宫妊娠4例(15%,4/26),残角子宫同侧输卵管妊娠1例(4%,1/26);2例(8%,2/26)合并泌尿系统畸形;合并不孕4例(15%,4/26).(4)双角子宫14例,占6.2%(14/225),无不孕患者,出现早产、胎膜早破等并发症;1例(7%,1/14)合并泌尿系统畸形.(5)其他类型:鞍状子宫4例(1.8%,4/225),无不孕患者;无子宫3例(1.3%,3/225),均以原发闭经就诊;单角子宫2例(0.9%,2/225),均合并不孕.结论 子宫发育异常中以中隔子宫最多见.中隔子宫、双子宫、双角子官、残角子宫、鞍状子宫对生育无明显影响,但在妊娠期可出现不同的并发症.子宫发育异常常合并泌尿系统畸形.无症状的子宫发育异常,可不予处理.%Objective To investigate the prevalence, clinical features, diagnosis, treatment and the influence on procreation of uterine malformation. Methods Totally 225 women with uterine malformation referred to our hospital from Mar 1990 to Jan 2005 were involved in this retrospective analysis.The constituent ratio, clinical feature, diagnosis, treatment and the influence on procreation were analyzed.Results (1) Among 225 cases of uterine malformation, 125 cases (55.6%) were septate uterus; 122(97.6%, 122/125 ) of these patients became pregnant, but

  15. 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.

  16. [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.

  17. Rare anorectal malformation with a non-terminal colovesical fistula

    OpenAIRE

    2015-01-01

    We describe a unique case of anorectal malformation (ARM) with a non-terminal colovesical fistula. While some aspects are similar to the congenital pouch colon (CPC), the differences make it a distinct form.

  18. Rare anorectal malformation with a non-terminal colovesical fistula

    Directory of Open Access Journals (Sweden)

    Sabine Vasseur Maurer

    2015-06-01

    Full Text Available We describe a unique case of anorectal malformation (ARM with a non-terminal colovesical fistula. While some aspects are similar to the congenital pouch colon (CPC, the differences make it a distinct form.

  19. Immune complex formation and in situ B-cell clonal expansion in human cerebral cavernous malformations.

    Science.gov (United States)

    Shi, Changbin; Shenkar, Robert; Kinloch, Andrew; Henderson, Scott G; Shaaya, Mark; Chong, Anita S; Clark, Marcus R; Awad, Issam A

    2014-07-15

    Cerebral cavernous malformations (CCMs) represent clusters of dilated vascular channels, predisposing to hemorrhagic stroke and seizures. They are associated with defective blood brain barrier, hemorrhages of different ages and a robust inflammatory cell infiltrate. We report for the first time evidence of co-localized IgG and complement membrane attack complexes in CCM lesions. CD4(+) and CD8(+) T-cells are aggregated with CD20(+) B-cells. And IgG repertoire analyses demonstrate in situ B-cell clonal expansion and antigen-driven affinity maturation in CCMs. These results suggest an organ-intrinsic adaptive immune response in CCMs that should be further characterized as a potential therapeutic target.

  20. [Congenital lumbar hernia and bilateral renal agenesis].

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  1. Schinzel-Giedion syndrome and congenital megacalyces.

    Science.gov (United States)

    Herman, T E; Sweetser, D A; McAlister, W H; Dowton, S B

    1993-01-01

    The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

  2. Anterior commissure absence without callosal agenesis: a new brain malformation.

    Science.gov (United States)

    Mitchell, T N; Stevens, J M; Free, S L; Sander, J W; Shorvon, S D; Sisodiya, S M

    2002-04-23

    The authors report a novel human brain malformation characterized by the absence of the anterior commissure without callosal agenesis, but associated with gross unilateral panhemispheric malformation incorporating subependymal heterotopia, subcortical heterotopia, and gyral abnormalities including temporal malformation and polymicrogyria. In contrast, a normal anterior commissure was found in 125 control subjects and in 113 other subjects with a range of brain malformations.

  3. Otosclerosis associated with type B-1 inner ear malformation

    OpenAIRE

    De Stefano, A.; DISPENZA, F.; Aggarwal, N.; Russo, A.

    2010-01-01

    Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossi...

  4. NPHP4 variants are associated with pleiotropic heart malformations.

    NARCIS (Netherlands)

    French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.

    2012-01-01

    RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic m

  5. NPHP4 variants are associated with pleiotropic heart malformations

    NARCIS (Netherlands)

    V.M. French (Vanessa); I.M.B.H. van de Laar (Ingrid); M.W. Wessels (Marja); C.F. Rohe; J.W. Roos-Hesselink (Jolien); G. Wang (Guangliang); I.M.E. Frohn-Mulder (Ingrid); E.A.W.F.M. Severijnen (Lies-Anne); B.M. de Graaf (Bianca); R. Schot (Rachel); G.J. Breedveld (Guido); E.J. Mientjes (Edwin); M. van Tienhoven (Marianne); E. Jadot (Elodie); Z. Jiang (Zhengxin); A. Verkerk; S.M.A. Swagemakers (Sigrid); H. Venselaar (Hanka); Z. Rahimi (Zohreh); H. Najmabadi (Hossein); E.J. Meijers-Heijboer (Hanne); E. de Graaff (Esther); W.A. Helbing (Willem); R. Willemsen (Rob); K. Devriendt (Koenraad); J.W. Belmont (John); B.A. Oostra (Ben); J.D. Amack (Jeffrey); A.M. Bertoli Avella (Aida)

    2012-01-01

    textabstractRationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective: To identi

  6. [The progress of inner ear malformation in radiological research].

    Science.gov (United States)

    Kong, Dehua; Fu, Kuang; Zhao, Hui

    2016-01-01

    Inner ear malformations are anomalies linking to development insults at different periods of embryogenesis,which are common causes of congenital sensorineural hearing loss. The evaluation of pediatric sensorineural hearing loss mostly depends on high-resolution computed tomography and magnetic resonance imaging, which can excellently depict the temporal bones and inner ear malformations.

  7. 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.

  8. Management of venous malformations.

    Science.gov (United States)

    Richter, Gresham T; Braswell, Leah

    2012-12-01

    Venous malformations (VMs) frequently occur in the head and neck with a predilection for the parotid gland, submandibular triangle, buccal space, muscles of mastication, lips, and upper aerodigestive tract. They are composed of congenitally disrupted ectatic veins with inappropriate connections and tubular channels. Because VMs have poorly defined boundaries and a tendency to infiltrate normal tissue, they require calculated treatment decisions in the effort to preserve surrounding architecture. Sclerotherapy, surgical excision, neodymium:yttrium aluminum garnet laser therapy, or a combination of these modalities is employed in the management of VMs. Although many small VMs can be cured, the objective is often to control the disease with periodic therapy. Location, size, and proximity to vital structures dictate the type of therapy chosen. Vigilance with long-term follow up is important. This review outlines current diagnostic and therapeutic approaches to simple and extensive cervicofacial VMs. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  9. Operative strategy of congenital atlantoaxial dislocation-induced Chiari malformation and (or)syringomyelia%先天性寰枢椎脱位导致Chiari畸形和(或)脊髓空洞的手术策略

    Institute of Scientific and Technical Information of China (English)

    段光明; 周定标; 余新光

    2008-01-01

    Objective To study the operative strategy of congenital atlantoaxial dislocation(CAAD)-induced Chiari malformation and (or) syringomyelia. Methods The operation in reported 23cases of CAAD-induced Chiari malformation and (or) syringomyelia was composed with the transoral resection of odontoid process to achieve anterior decompression at first stage and occipito-cervical bone grafting fusion at second stage. Results MRI examination revealed the tonsils ascent and (or) syrinx reduction in 19 cases after first-stage operation. Compared with their preoperative manifestations, 14cases were obviously improved and 5 improved to some extent after operation, while 4 were unchanged. Conclusions CAAD is the main cause of tonsils descent and (or) syringomyelia in the series of patients. After anterior decompression by transoral resection of odontoid process, most patients will get recovered in tonsils descent and (or) syringomyelia reduction. The main aim of posterior operation is to reconstruct the stability of craniovertebral junction.%目的 探讨先天性寰枢椎脱位(CAAD)导致Chiari畸形和(或)脊髓空洞的手术策略.方法 收集我科23例CAAD导致Chiari畸形和f或1脊髓空洞患者的手术情况.一期经口齿状突切除前路减压,二期主要行后路枕颈植骨融合术. 结果 一期手术后复查MRI,小脑扁桃体下疝还纳、脊髓空洞缩小19例,无变化4例.术后临床表现明显改善14例,改善5例,无变化4例. 结论 在该类患者中,CAAD是造成小脑扁桃体下疝和(或)脊髓空洞的主要原因.单纯经口齿状突切除前路减压,多可使扁桃体下疝还纳,空洞缩小.后路手术的主要目的是重建颅颈交界处的稳定.

  10. Impairment of tight junctions and glucose transport in endothelial cells of human cerebral cavernous malformations.

    Science.gov (United States)

    Schneider, Hannah; Errede, Mariella; Ulrich, Nils H; Virgintino, Daniela; Frei, Karl; Bertalanffy, Helmut

    2011-06-01

    Cerebral cavernous malformations (CCMs) often cause hemorrhages that can result in severe clinical manifestations, including hemiparesis and seizures. The underlying mechanisms of the aggressive behavior of CCMs are undetermined to date, but alterations of vascular matrix components may be involved. We compared the localization of the tight junction proteins (TJPs) in 12 CCM specimens and the expression of glucose transporter 1 (GLUT-1), which is sensitive to alterations in TJP levels, in 5 CCM specimens with those in 5 control temporal lobectomy specimens without CCM by immunofluorescence microscopy. The TJPs occludin, claudin-5, and zonula occludens ZO-1 were downregulated at intercellular contact sites and partly redistributed within the surrounding tissue in the CCM samples; there was also a marked reduction of GLUT-1 immunoreactivity compared with that in control specimens. Corresponding analysis using quantitative real-time reverse transcription polymerase chain reaction on 8 CCM and 8 control specimens revealed significant downregulation of mRNA expression of occludin, claudin-5, ZO-1, and GLUT-1. The altered expression and localization of the TJPs at interendothelial contact sites accompanied by a reduction of GLUT-1 expression in dilated CCM microvessels likely affect vascular matrix stability and may contribute to hemorrhages of CCMs.

  11. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

    Science.gov (United States)

    Schluth-Bolard, Caroline; Labalme, Audrey; Cordier, Marie-Pierre; Till, Marianne; Nadeau, Gwenaël; Tevissen, Hélène; Lesca, Gaétan; Boutry-Kryza, Nadia; Rossignol, Sylvie; Rocas, Delphine; Dubruc, Estelle; Edery, Patrick; Sanlaville, Damien

    2013-03-01

    Apparently balanced chromosomal rearrangements (ABCR) are associated with an abnormal phenotype in 6% of cases. This may be due to cryptic genomic imbalances or to the disruption of genes at the breakpoint. However, breakpoint cloning using conventional methods (ie, fluorescent in situ hybridisation (FISH), Southern blot) is often laborious and time consuming. In this work, we used next generation sequencing (NGS) to locate breakpoints at the molecular level in four patients with multiple congenital abnormalities and/or intellectual deficiency (MCA/ID) who were carrying ABCR (one translocation, one complex chromosomal rearrangement and two inversions), which corresponded to nine breakpoints. Genomic imbalance was previously excluded by array comparative genomic hybridisation (CGH) in all four patients. Whole genome paired-end protocol was used to identify breakpoints. The results were verified by FISH and by PCR with Sanger sequencing. We were able to map all nine breakpoints. NGS revealed an additional breakpoint due to a cryptic inversion at a breakpoint junction in one patient. Nine of 10 breakpoints occurred in repetitive elements and five genes were disrupted in their intronic sequence (TCF4, SHANK2, PPFIA1, RAB19, KCNQ1). NGS is a powerful tool allowing rapid breakpoint cloning of ABCR at the molecular level. We showed that in three out of four patients, gene disruption could account for the phenotype, allowing adapted genetic counselling and stopping unnecessary investigations. We propose that patients carrying ABCR with an abnormal phenotype should be explored systematically by NGS once a genomic imbalance has been excluded by array CGH.

  12. Human giant congenital melanocytic nevus exhibits potential proteomic alterations leading to melanotumorigenesis

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    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.

  13. 感音神经性聋患儿中先天性内耳畸形的构成、影像学及临床听力学特征%Constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss

    Institute of Scientific and Technical Information of China (English)

    李幼瑾; 杨军; 李蕴

    2011-01-01

    目的:分析婴幼儿、儿童先天性感音神经性聋(SNHL)中先天性内耳畸形的构成、影像学及临床听力学特征.方法:回顾性分析2005-02-2010-01上海交通大学医学院附属上海儿童医学中心耳鼻咽喉科诊治的860例先天性SNHL患儿中,经颞骨高分辨率CT及MRI发现有先天性内耳畸形的125例(225耳)患儿的听力学及影像学资料.结果:860例先天性SNHL患儿中有先天性内耳畸形者占14.5%;累及双侧98例(78.4%),单侧27例(21.6%).225耳中167耳(74.2%)为极重度聋,36耳(16%)为重度聋,22耳(9.8%)为中度聋.该组内耳畸形中,前庭水管扩大最多见(75.6%),其次为前庭畸形(32%),再次为耳蜗前庭畸形(23.1%).耳蜗前庭畸形中以Mondini畸形最常见(55.8%),其次为共同腔畸形(28.9%).累及耳蜗的内耳畸形中极重度聋者明显多于未累及耳蜗的内耳畸形中极重度聋者.结论:对了解中国婴幼儿、儿童先天性SNHL中先天性内耳畸形的构成,对先天性SNHL的病因诊断以及对包括助听器、耳蜗植入等在内的干预策略的制订及其预后有一定意义.%Objective:To analyze the constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss(SNHL). Method.. Imaging and auditory data of 125 cases(225 ears) in 860 pediatric patients with congenital SNHL who referred to ENT department of Shanghai Children Medical Center from February 2005 to January 2010 were retrospectively studied. Result:Congenital malformations of inner ear accounted for 14.5 % in 860 pediatric patients with congenital SNHL. Bilateral ear was involved in 98 cases(78. 4%), unilateral in 27cases(21.6%). One hundred and sixty-seven ears (74. 2%) were identified as profound deafness, 36 ears (16%) severe deafness and 22 ears (9.8%) moderate deafness in 225 ears,respectively. In present group, large vestibular aqueduct (75.6 %) was the most common and next

  14. Eye malformations in Cameroonian children: a clinical survey

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    Eballé AO

    2012-10-01

    Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

  15. 2010年至2013年新泰市新生儿先天畸形发生率及危险因素分析%The incidence rate of congenital malformations in Xintai City from 2010 to 2013 and their risk factors

    Institute of Scientific and Technical Information of China (English)

    杨平; 陈晓云; 张明

    2015-01-01

    Objective To analyze the incidence rate of congenital malformations in Xintai City from January 2010 to December 2013,and to investigate the risk factors for neonatal malformations. Methods A total of 21 463 ca-ses of perinatal infants pregnant for 28 weeks later to postpartum 7 d in Xintai city from January 2010 to December 2013 were retrospectively analyzed. The congenital malformations detection data were analyzed. The risk factors were analyzed by univariate and Logistic analysis methods. Results There were 281 cases with congenital malformations were identi-fied out,and the congenital malformation rate was 1. 31%(281 / 21 463 cases). The incidence rates of multi - finger (toe)[0. 24%(52 / 21 463 cases)],cleft lip[0. 23%(49 / 21 463 cases)],and congenital heart disease[0. 22%(47 /21 463 cases)]were the main congenital malformations. Total malformation rates in the year of 2010,2011,2012,and 2013 were similar(1. 26% ,1. 25% ,1. 33% ,1. 26% ,Z = - 1. 826,P = 0. 068). Univariate and Logistic regression analysis results showed that birth weight,parity,births number,gestational age,educational level,residence,income,ill-ness history,exposure to pesticides,hepatitis,influenza,severe vomiting of pregnancy,threatened abortion,threatened premature,contraceptives,smoking history,drinking history,and father's chronic disease were the risk factors for neo-natal congenital malformations( χ2 = 10. 212,4. 299,5. 860,5. 278,10. 422,9. 327,15. 680,127. 395,245. 735, 74. 141,718. 876,96. 414,77. 770,11. 300,9. 126,74. 927,68. 283,5. 450,P = 0. 001,0. 038,0. 015,0. 022, 0. 001,0. 002,0. 000,0. 000,0. 000,0. 000,0. 000,0. 000,0. 001,0. 001,0. 003,0. 000,0. 000,0. 020 ). Conclusions Neonatal congenital malformation is mainly determined by genetic and environmental factors. For childbearing age and pregnant women,targeted health education should be strengthened to reduce the incidence rate of congenital malformations.%目的:分析新泰市2010年1月至2013年12月新生儿先

  16. Malformações cardíacas congênitas em necropsias pediátricas: características, associações e prevalência Congenital cardiac malformations in pediatric necropsies: characteristics, associations and prevalence

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    Dinaldo de Lima Leite

    2010-03-01

    second cause of death in children younger than one year, with cardiovascular defects being responsible for 39.4% of these deaths. OBJECTIVES: To establish the prevalence and the characteristics of the congenital cardiac malformations in pediatric necropsies performed in Hospital Regional da Asa Sul, Brasília, DF, Brazil, from January 1996 to December 2007. METHODS: This is a descriptive, cross-sectional study that reviewed 1,591 necropsies performed from January 1996 to December 2007 and found 189 (11.9% with congenital cardiac malformations, included in this study. RESULTS: The cardiac abnormalities were observed mainly in the group of live births (117/61.9%, followed by the stillbirths (35/18.5%, the infant group (30/15.9% and the preschoolers' group (7/3.7%, with no cases identified among school-aged children. The main alterations detected were: interatrial communication in 96 patients (27%, interventricular communication in 66 patients (18.5% and patent ductus arteriosus in 51 (14.3%, with no predominance of either sex. In 133 patients (70.4%, the cardiopathies were multiple and in 96 (50.8% they were associated with anomalies in other organs and systems; among these, 45 (23.8% presented cardiopathies as syndrome components, especially trisomies, at all age ranges. CONCLUSIONS: The results of the present study show a high prevalence of congenital cardiac anomalies in our country and distribution and association that were similar to the ones observed in developed countries. The high mortality associated to such anomalies highlights the need for more comprehensive research in order to identify the risk factors and seek the primary prevention of some of these defects.

  17. [Central nervous system malformations: neurosurgery correlates].

    Science.gov (United States)

    Jiménez-León, Juan C; Betancourt-Fursow, Yaline M; Jiménez-Betancourt, Cristina S

    2013-09-06

    Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration, lissencephaly, pachygyria, schizencephaly, agenesis of the corpus callosum, heterotopia and cortical dysplasia, spinal malformations and spinal dysraphism. We expose the classification of different central nervous system malformations that can be corrected by surgery in the shortest possible time and involving genesis mechanisms of these injuries getting better studied from neurogenic and neuroembryological fields, this involves connecting innovative knowledge areas where alteration mechanisms in dorsal induction (neural tube) and ventral induction (telencephalization) with the current way of correction, as well as the anomalies of cell proliferation and differentiation of neuronal migration and finally the complex malformations affecting the posterior fossa and current possibilities of correcting them.

  18. Dandy-Walker Malformation Presenting with Psychological Manifestations

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    Yasodha Maheshi Rohanachandra

    2016-01-01

    Full Text Available Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment.

  19. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

    OpenAIRE

    Norma Elena de León Ojeda; Michel Soriano-Torres; Cabrera, Mercedes J.; Dunia Bárbara Benítez Ramos

    2012-01-01

    We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chr...

  20. Evaluation of the representativeness of a Dutch non-malformed control group for the general pregnant population : are these controls useful for EUROCAT?

    NARCIS (Netherlands)

    Jentink, J.; Zetstra-van der Woude, A.P.; Bos, Jens; De Jong-Van den Berg, L.T.

    2011-01-01

    Purpose A case-control study is the most powerful design to test the risk of specific congenital malformations associated with a specific drug. However, malformation registries often lack non-malformed controls. For the Dutch EUROCAT, we collected a non-malformed control group: the 'Healthy Pregnant

  1. A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

    Science.gov (United States)

    McDonald, David A; Shenkar, Robert; Shi, Changbin; Stockton, Rebecca A; Akers, Amy L; Kucherlapati, Melanie H; Kucherlapati, Raju; Brainer, James; Ginsberg, Mark H; Awad, Issam A; Marchuk, Douglas A

    2011-01-15

    Cerebral cavernous malformations (CCMs) are vascular lesions of the central nervous system appearing as multicavernous, blood-filled capillaries, leading to headache, seizure and hemorrhagic stroke. CCM occurs either sporadically or as an autosomal dominant disorder caused by germline mutation of one of the three genes: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Surgically resected human CCM lesions have provided molecular and immunohistochemical evidence for a two-hit (germline plus somatic) mutation mechanism. In contrast to the equivalent human genotype, mice heterozygous for a Ccm1- or Ccm2-null allele do not develop CCM lesions. Based on the two-hit hypothesis, we attempted to improve the penetrance of the model by crossing Ccm1 and Ccm2 heterozygotes into a mismatch repair-deficient Msh2(-/-) background. Ccm1(+/-)Msh2(-/-) mice exhibit CCM lesions with high penetrance as shown by magnetic resonance imaging and histology. Significantly, the CCM lesions range in size from early-stage, isolated caverns to large, multicavernous lesions. A subset of endothelial cells within the CCM lesions revealed somatic loss of CCM protein staining, supporting the two-hit mutation mechanism. The late-stage CCM lesions displayed many of the characteristics of human CCM lesions, including hemosiderin deposits, immune cell infiltration, increased endothelial cell proliferation and increased Rho-kinase activity. Some of these characteristics were also seen, but to a lesser extent, in early-stage lesions. Tight junctions were maintained between CCM lesion endothelial cells, but gaps were evident between endothelial cells and basement membrane was defective. In contrast, the Ccm2(+/-)Msh2(-/-) mice lacked cerebrovascular lesions. The CCM1 mouse model provides an in vivo tool to investigate CCM pathogenesis and new therapies.

  2. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

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    Alok Sachan

    2010-01-01

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

  3. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

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    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.

  4. Contemporary diagnosis of venous malformation

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    Lee BB

    2013-11-01

    Full Text Available BB Lee,1 I Baumgartner21Department of Surgery, George Washington University, Washington, DC, USA; 2Swiss Cardiovascular Center, University Hospital Bern, Bern, SwitzerlandAbstract: Venous malformation is a congenital vascular malformation resulting from defective development during various stages of embryogenesis and selectively affecting the venous system. Depending on the embryologic stage when the developmental arrest occurred, the clinical presentation of venous malformation is extremely variable in location, extent, severity, natural progression, and hemodynamic impact. Extratruncular lesions occur in the earlier stages of embryonic life, and retain characteristics unique to mesenchymal cells (angioblasts, growing and proliferating when stimulated internally (eg, by menarche, pregnancy, and hormones or externally (eg, by trauma or surgery. These lesions also have a significant hemodynamic impact on the venous system involved, in addition to the risk of localized intravascular coagulopathy. However, truncal lesions, as defective developments along the late stage, no longer carry the risk of proliferation and recurrence due to lack of mesenchymal characteristics. Although, they often have serious hemodynamic consequences due to direct involvement of the main vein trunk. Therefore, a thorough clinical history and careful physical examination should be followed by an appropriate combination of noninvasive and less invasive tests (eg, Doppler ultrasonography, magnetic resonance imaging, computed tomography to confirm the clinical impression as well as to define the extent and severity of the venous malformation. Invasive tests, eg, phlebography or angiography, are seldom needed for the diagnosis per se. Additional evaluation for coagulation abnormalities, eg, D-dimer and fibrinogen levels, is generally recommended, especially for the treatment of surgery and endovascular candidates with extensive lesions to assess the localized intravascular

  5. Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment

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    Jazmín Arteaga-Vázquez

    2012-12-01

    Full Text Available OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC en hijos de madres epilépticas (HME tratadas y no tratadas con anticonvulsivantes, la posible correlación anticonvulsivante/MC y la asociación con otras alteraciones del desarrollo. MATERIAL Y MÉTODOS: Estudio multicéntrico de casos y controles en 166 recién nacidos vivos HME identificados en 21 501 recién nacidos con MC y respectivos controles del Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE. RESULTADOS: La frecuencia de MC en HME tratadas fue mayor, (48.3% que en HME no tratadas (28.3%; (RM= 2.37 IC95% 1.08-5.40, p=0.03. Las MC más frecuentes fueron espina bífida, anomalías en reducción de miembros, labio/paladar hendido, microcefalia, anotia/microtia, hipospadias, paladar hendido, polidactilia, anoftalmia/microftalmia y onfalocele. No hubo diferencias entre uso de mono o politerapia. La difenilhidantoína, carbamazepina y ácido valproico fueron los anticonvulsivantes más utilizados. CONCLUSIONES: Los resultados confirman la teratogenicidad propia de la epilepsia y el efecto sinérgico de ciertos anticonvulsivantes, lo que evidencia la necesidad de un apropiado control periconcepcional de esta enfermedad y su tratamiento.OBJECTIVE: To determine the prevalence at birth and type of congenital malformations (CM in newborns of epileptic mothers (NEM treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. MATERIALS AND METHODS: Multicenter case-control study, in 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE. RESULTS: The frequency of CM in NEM treated with anticonvulsants was higher (48.3% than in NEM of untreated mothers (28.3%, (OR= 2.37 IC95% 1.08-5.40, p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate

  6. Frequency of congenital craniofacial malformations in a Brazilian Reference Center Frequência de malformações congênitas craniofaciais em um Centro de Referência Brasileiro

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    Lívia Máris Ribeiro Paranaíba

    2011-03-01

    Full Text Available OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4% male and 486 (42.6% female, between 1992 and 2008. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%, followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%, recognized syndromes or sequences (56 cases; 5%, syndromes with orofacial cleft as a component (41 cases; 3.5%, and orofacial clefts in association with systemic malformations (27 cases; 2.4%. CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.OBJETIVO: Avaliar a frequência de anomalias craniofaciais em pacientes assistidos em um Centro de Referência Brasileiro para deformidades craniofaciais. MÉTODO: Estudo retrospectivo epidemiológico avaliando os prontuários clínicos de 1.142 pacientes, sendo 656 (57,4% do gênero masculino e 486 (42,6% do feminino, entre os anos de 1992 e 2008. RESULTADOS: Entre os defeitos congênitos, fissura labial e/ou palatina não-sindrômica foi o mais frequente (778 casos; 68,1%, seguido por anomalias congênitas simples ou múltiplas sem fissura labial e/ou palatina (240 casos; 21%, síndromes ou sequências reconhecidas (56 casos; 5%, síndromes com fissura orofacial como um componente do quadro sindrômico (41 casos; 3,5%, e fissuras orofaciais em associação com malforma

  7. Papilloedema due to Chiari I malformation.

    Science.gov (United States)

    Zhang, Jason Chao; Bakir, Belal; Lee, Andrew; Yalamanchili, Sushma S

    2011-10-16

    The Chiari I malformation is a congenital abnormality characterised by downward displacement of the cerebellar tonsils through the foramen magnum into the cervical spine. It presents clinically most often in young adult women. Known ocular manifestations linked to Chiari I consist primarily of oculomotor paresis with cranial nerve VI palsy and convergence/divergence abnormalities. Papilloedema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To highlight this unusual complication, the authors report a 64-year-old female who developed papilloedema as the only presenting neurological symptom resulting from a Chiari I malformation.

  8. Cochlear Implantation in Children with Cochlear Malformation.

    Science.gov (United States)

    Saikawa, Etsuko; Takano, Kenichi; Ogasawara, Noriko; Tsubomatsu, Chieko; Takahashi, Nozomi; Shirasaki, Hideaki; Himi, Tetsuo

    2016-01-01

    Cochlear implantation (CI) has proven to be an effective treatment for severe bilateral sensorineural hearing loss (SNHL). Inner ear malformation is a rare anomaly and occurs in approximately 20% of cases with congenital SNHL. In cases with cochlear malformation, CI can be successfully performed in nearly all patients, the exceptions being those with complete labyrinthine and cochlear aplasia. It is important to evaluate the severity of inner ear deformity and other associated anomalies during the preimplantation radiological assessment in order to identify any complication that may potentially occur during the surgery and subsequent patient management.

  9. Dose-dependent risk of malformations with antiepileptic drugs: an analysis of data from the EURAP epilepsy and pregnancy registry

    DEFF Research Database (Denmark)

    Tomson, Torbjörn; Battino, Dina; Bonizzoni, Erminio

    2011-01-01

    Prenatal exposure to antiepileptic drugs is associated with a greater risk of major congenital malformations, but there is inadequate information on the comparative teratogenicity of individual antiepileptic drugs and the association with dose. We aimed to establish the risks of major congenital...... malformations after monotherapy exposure to four major antiepileptic drugs at different doses....

  10. 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.

  11. [Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

    Science.gov (United States)

    Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

    2015-01-01

    Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  12. Anorectal malformations

    Directory of Open Access Journals (Sweden)

    Peña Alberto

    2007-07-01

    Full Text Available Abstract Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.

  13. The expression of IGF-2 in tetrachlorodibenzodioxin-induced congenital skeleton malformation%IGF一2在四氯二苯并二恶英诱导的大鼠骨骼畸形中的表达

    Institute of Scientific and Technical Information of China (English)

    郭磊; 赵玉岩; 张世亮; 朱世博; 刘魁

    2008-01-01

    目的 探讨骨骼发育畸形的大鼠软骨组织内胰岛素样生长因子(insulin-like growth factors,IGFs)家族成员IGF-2的表达规律.方法 应用环境类致畸因子二恶英中毒性最强的四氯二苯并二恶英,即2,3,7,8-四氯一二苯并-对-二恶英(2,3,7,8-tetrachlorodibenzo-p-dioxin,TCDD)构建先天性大鼠骨骼发育畸形动物模型.应用光镜和透射电镜观测骨骼畸形大鼠的足部软骨组织病理学改变.免疫组织化学染色分析大鼠软骨组织IGF-2蛋白的表达.应用TCDD干预体外培养的大鼠软骨细胞,采用RT-PCR及Western印迹杂交检测软骨细胞内的IGF-2 mRNA及蛋白质的表达水平.结果 TCDD(15 μg/kg)诱导实验组33.3%的胎鼠出现单一或多种畸形,包括:内翻足、小脑畸形、腭裂、无尾畸形等,在骨骼畸形胎鼠的足部软骨发生带缩小,软骨细胞数量减少,软骨细胞核内粗面内质网扩张,核基质降解,线粒体嵴紊乱.15 μg/kg剂量的TCDD使畸形胎鼠软骨细胞内IGF-2蛋白质的表达明显降低.TCDD(1 × 10-8 mol/L)作用体外培养的大鼠软骨细胞24 h,细胞内IGF-2的基因转录和翻译水平分别减少80%和60%,P<0.05.结论 IGF 2在大鼠软骨细胞内的低表达可能与TCDD对骨骼发育的致畸作用密切相关.%Objective To investigate the gene expression of insulin-like growth factors-2(IGF2)in fetal rat with congenital skeleton malformation.Methods The fetal rat models with congenital skeleton malformation were induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin(TCDD)to the pregnant Wistar rats(day 10).Histopathologic characteristics of cartilaginous tissue in fetal foot were detected with light microscope and transmission electron microscope.IGF-2 protein level in cartilaginous tissue was analyzed by immunocytochemical methods and image analysis.The IGF-2 mRNA and protein level in TCDD-treated chondrocytes in vitro were detected by reverse transcription polymerase chain reaction and western blotting

  14. Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita Malformations detected by abdominal ultrasound in children with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Rosana Cardoso Manique Rosa

    2012-01-01

    Full Text Available FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC, trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (USA, comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009, com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034. No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal.BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD, bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency

  15. Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita Malformations detected by abdominal ultrasound in children with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Rosana Cardoso Manique Rosa

    2012-12-01

    Full Text Available FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC, trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (USA, comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009, com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034. No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal.BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD, bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency

  16. Congenital malformations prevalent among Egyptian children and ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    on World Health Organization report, about 3 million fetuses and infants are born each year with ... Surveys of CMs must be done in every country to provide prevalence, pattern of occur- rence, nature, identify causes, and associated risk factors to prevent or reduce ..... The same was also reported in Brazil, where CMs were.

  17. 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

  18. Congenital Pouch Colon

    Directory of Open Access Journals (Sweden)

    Vivek Gharpure

    2012-07-01

    Full Text Available Face The Examiner:QUESTIONS1. What are the diagnostic features of congenital pouch colon (CPC?Ans: A male patient with CPC often have a wide colovesical fistula and present with anorectal malformation and meconuria; on plain abdominal film, a single large bowel loop occupying more than 50% of the abdominal cavity is also a diagnostic sign. Girls (persistent cloaca/vestibular fistula/anteriorly placed anus etc. often present late with intractable constipation or multiple episodes of enterocolitis and persistent abdominal distension with common cloaca or anterior ectopic anus/ rectovestibular fistula. The congenital pouch colon can be identified as replacement of a part or entire colon in the configuration of pouch that lacks taenia coli, haustrations, appendices epiploicae, abnormal blood supply and a wide fistula with genitourinary system in a patient of anorectal malformation.

  19. [Congenital hepatic fibrosis: apropos of 12 cases].

    Science.gov (United States)

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C

    1988-02-01

    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  20. RECTAL DUPLICATION CYST IN PREVIOUS ANORECTAL MALFORMATION AND DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    A. Burgio

    2012-12-01

    Full Text Available Gastrointestinal (GI tract duplications are rare congenital malformations. Most of them occur in the ileum and only 1-5%, of all duplication, were in the rectum. Different clinical features including chronic constipation, rectal prolapsed or polips. We report on a 4-years-old girl with Down syndrome and anorectal malformation (ARM who was found to have a rectal duplication cyst.

  1. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    OpenAIRE

    Patel, Tirth R.; Moberly, Aaron C.

    2016-01-01

    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient’s risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multi...

  2. CLINICAL STUDY OF ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Umesh

    2015-01-01

    Full Text Available BACKGROUND: A norectal malformations are relatively encountered anomalies. Presentations may vary from mild to severe and bowel control is t he main concern. AIM: To study the modes of presentation , types of anomalies , associated anomalies , reliability of clinical signs and radiological investigations in the diagnosis and the prognosis and continence in the post - operative in relation to type of anomaly and associated anomaly (s. MATERIAL AND METHODS: 50 cases of anorectal malformations admit ted to Department of Paediatric Surgery , in Medical Coll ege and Research Institute , were included in the study. Data related to the objectives of the study were collected. RESULTS: Commonest mode of presentation was failure to pass meconium 50%. 59% of mal es had high anomalies , while 53% females had intermediate anomalies. The diagnosis of low anomaly was made clinically , while high and intermediate anomalies needed further investigations. Associated anomalies were noted in 46.6% of the cases. 71.42% of the se patients had either a high or intermediate ARM. All patients with high anomalies underwent a 3 stage procedure , while low anomalies underwent a single stage procedure followed by anal dilatations. Rectal mucosal prolapse (2 cases , wound infection (4 ca ses , stenosis (3 cases , retraction of neo anus (1 case was seen. All the patients with low anomalies had a good functional result post operatively , while 57% and 28% of patients with intermediate and high anomalies had good results. CONCLUSION : Anorectal malformations are common congenital anomalies. Males are more commonly affected (1.3:1. Low anomalies are the commonest lesions noted in both the sexes (36.67%. High anomalies are more frequent in males. Invertogram offer an accurate diagnosis for planning management in patients with anorectal malformations. Low anomalies have a better outcome following surgery. For intermediate and high anomalies a staged repair offers better results

  3. 产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值%Diagnostic Value of Prenatal Ultrasound Screening on Fetuses with Complex Congenital Heart Malformation in Second Trimester of Pregnancy

    Institute of Scientific and Technical Information of China (English)

    夏曦; 周芬芳; 陈宏; 陈莉

    2014-01-01

    Objective To explore the diagnostic value of prenatal ultrasound screening on fetuses with complex con-genital heart malformation in second trimester of pregnancy. Methods From February 2012 to February 2014,the examination data of prenatal ultrasound screening of 9 300 pregnant women in second trimester of pregnancy in our hospital were retrospectively analyzed,the ultrasound findings and follow - up results were compared. Results The positive rate of complex congenital heart malformation was 0. 29% (27 / 9 300). There was no significant differences of detection rate of endocardial cushion defect, transposition of the great arteries,single atrium or ventricle,left or right heart dysplasia,persistent truncus arteriosus,inter-rupted aortic arch,left ventricular cardiac rhabdomyoma,Fallot's tetrad,outside heart malformations and ventricular septal de-fect between ultrasound findings and the fellow - up results(P > 0. 05). A total of 5 cases(0. 05% )got missed diagnosis,in-cluding one case of Fallot's tetrad,2 cases of pulmonary artery stenosis,2 cases of ventricular septal defect. Conclusion Pre-natal ultrasound screening has a higher accurate diagnosis rate on fetuses with complex congenital heart malformation in second tri-mester of pregnancy,is helpful in reducing the birth rate of fetuses with complex congenital heart malformation and to prenatal and postnatal care.%目的:探讨产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值。方法回顾性分析2012年2月-2014年2月在我院进行产前超声筛查的9300例妊娠中期孕妇的超声检查资料,比较超声检查结果和产后随访结果。结果9300例孕妇共检出27例复杂先天性心脏畸形胎儿,检出率为0.29%。超声筛查对心内膜垫缺损、大动脉转位、单心房/单心室、左心/右心发育不良、永存动脉干、主动脉弓中断、左室横纹肌瘤、法洛四联征、合并心外畸形及室间隔缺损的检出率与随访结

  4. Arnold-Chiari Type II Malformation: A Case Report and Review of Prenatal Sonographic Findings

    Directory of Open Access Journals (Sweden)

    Maryam Nik Nejadi

    2008-01-01

    Full Text Available The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downwarddisplacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into thespinal canal. This malformation is one of causative factor of death in neonates and infants. Athorough understanding of the direct and indirect sonographic findings is necessary for diagnosis ofChiari II malformation in the developing fetus.In this case report, we present a Chiari malformation II detected at 23 weeks of gestation by routinelysonographic screening. The Role of prenatal sonography in recognition of the malformation andprognostic value of these features are discussed.

  5. The role of seasonal factor in congenital abnormality forming

    Directory of Open Access Journals (Sweden)

    O. V. Antonov

    2012-01-01

    Full Text Available The results of prevalence, structure and timerisk study in children birth with malformations inOmskin the period of 1998—2008 are presented. Birth of children with congenital abnormality weight average index accounted for (47.72 ± 0.66%. Musculoskeletal and cardiovascular malformations prevailed in birth abnormality total number structure. Accor­ding to ICD-10 the congenital malformations were united in groups and seasonal variation indices nave been determined for them. Study results indicated the predominance of children conception cases with high risk malformations forming in August, November and December.

  6. 儿童先天性肺囊性腺瘤样畸形的影像学诊断%Diagnostic imaging of children’s congenital cystic adenomatoid lung malformation

    Institute of Scientific and Technical Information of China (English)

    张建飞; 干芸根; 陈秋妍; 张龚巍

    2015-01-01

    目的:探讨儿童先天性肺囊性腺瘤样畸形的影像学表现,提高对本病的认识。方法搜集23例经病理证实的儿童先天性肺囊性腺瘤样畸形患者的X线和C T资料,分析影像学特点,并与组织病理学资料作对照分析。结果18例患儿胸片表现异常,其中气胸样改变9例,多囊状改变7例,肿块样实变1例,肺炎样改变1例,其中合并肺纵隔疝9例,出现患侧肺气肿16例;5例患儿胸片表现正常。C T表现为巨大囊腔7例,类圆形薄壁囊腔7例,蜂窝样小囊8例,肿块样改变1例,其中,3例可见液平面,右肺受累11例,左肺受累12例;Stocker分型I型15例,II型7例,III型I例。结论 CT检查可作为诊断儿童先天性肺囊性腺瘤样畸形的可靠方法。%Objective To investigate the imaging features of children’s congenital cystic adenomatoid lung malformation (CCAM ) ,and improve the recognition of the disease .Methods 23 children with pathological proved CCAM were re‐viewed rospectively and comparatively analysis between imaging and histopathology were made .Results Chest X‐ray (CXR) showed an abnormality in 18 children ,including pneumothoracic‐like change in 9 patients ,vesicles appearance in 7 patients ,tumor‐like change and pneumonia‐like change in 1 patient separately .9 patients incorporated with pulmonary me‐diastinal hernia ,and 16 patients with emphysema at the affected side ;CXR was unremarkable in 5 patients .On CT scan , 7 patients incorporated with large cysts ,7 patients had circular thin‐walled cystic lesion ,8 patients had honey combing‐like vesicles ,1 patient had tumor‐like change ,among in which 3 patients had a few liquid .Right lung was implicated in 11 pa‐tients ,left lung was implicated in 12 patients .According to Stocker classification ,15 patients were typy I ,7 patients were typy II and 1 patient was type III .Conclusion Imaging findings ,especially CT scan ,is a reliable

  7. A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma.

    Science.gov (United States)

    Hill, S; Rademaker, M

    2009-12-01

    Glomuvenous malformations are a subtype of venous malformations, which present in infancy or childhood. We describe a teenage girl who presented with multiple digital glomuvenous malformations from birth. In addition, she had an epidermal naevus on the upper lip, an area of congenital alopecia of the scalp, heterochromia irides and an abdominal lipoblastoma. We are unaware of any reports of the association of multiple glomuvenous malformations with the other uncommon developmental anomalies seen in our patient, and a common link eludes us.

  8. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  9. The management of congenital malpositions of eyelids, eyes and orbits.

    Science.gov (United States)

    Morax, S; Hurbli, T

    1988-01-01

    Congenital malformations of the eye and its adnexa which are multiple and varied can affect the whole eyeball or any part of it, as well as the orbit, eyelids, lacrimal ducts, extra-ocular muscles and conjunctiva. A classification of these malformations is presented together with the general principles of treatment, age of operating and surgical tactics. The authors give some examples of the anatomo-clinical forms, eyelid malformations such as entropion, ectropion, ptosis, levator eyelid retraction, medial canthus malposition, congenital eyelid colobomas, and congenital orbital abnormalities (Craniofacial stenosis, orbital plagiocephalies, hypertelorism, anophthalmos, microphthalmos and cryptophthalmos).

  10. 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...

  11. Otosclerosis associated with type B-1 inner ear malformation.

    Science.gov (United States)

    De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A

    2010-06-01

    Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis.

  12. Vein of Galen malformation: What to do when vascular access is not feasible?

    Directory of Open Access Journals (Sweden)

    Zenteno Marco

    2014-06-01

    Full Text Available Background: The vein of Galen aneurysmal malformation (GVAM is a rare congenital vascular lesion, with high morbidity and mortality without treatment, endovascular management is the best alternative available today.

  13. Malformations of cortical development: genetic mechanisms and diagnostic approach

    Science.gov (United States)

    2017-01-01

    Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development. PMID:28203254

  14. Relationship of Ghrelin gene polymorphism with congenital anorectal malformation and Hirschsprung disease%Ghrelin基因多态性与先天性肛门直肠畸形和先天性巨结肠的关系

    Institute of Scientific and Technical Information of China (English)

    高红; 王大佳; 赵相轩; 弭杰; 白玉作; 王维林

    2015-01-01

    Objective To explore the relationship of Ghrelin gene polymorphism with the occurrence of human anorectal malformations (ARMs) and Hirschsprung disease (HSCR). Methods PCR and DNA sequencing were used to detect the single nucleotide polymorphism (SNPs) of 3 loci (rs139684563, rs149447194, rs186599567) genotype of Ghrelin gene in 100 children with ARMs, 100 children with HSCR, and 100 healthy children (normal group). Genovariation and gene mutation were analyzed with case-control method. Results Three loci SNPs were in accordance with Hardy-Weinberg genetic equilibrium. No significant differences were found in rs139684563 allele and genotype frequencies between the cases and the normal groups (P>0.05). The allele and genotype frequencies of rs149447194 and rs186599567 were significantly different between cases and normal group (P0.05)。ARM和HSCR患儿rs149447194和rs186599567位点基因型分布及等位基因频率与正常小儿比较,差异均有统计学意义(均P0.05)。 DNA测序结果显示,ARM和HSCR患儿rs149447194和rs186599567位点均可检出有野生型纯合子缺失(分别为第176和191位碱基A缺失)﹔ARM患儿还可在rs149447194位点检出有单碱基替换(第194位密码子核苷酸CCT寅CTC)。结论 Ghrelin基因rs149447194和rs186599567两个位点的多态性改变可能与ARMs和HSCR的发生有关。

  15. Congenital tracheobronchial stenosis.

    Science.gov (United States)

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Ethanol sclerotherapy of peripheral venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

    2004-12-01

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

  17. Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

    NARCIS (Netherlands)

    Garne, E

    Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six

  18. Psychosexual Well-Being after Childhood Surgery for Anorectal Malformation or Hirschsprung's Disease

    NARCIS (Netherlands)

    Hondel, D. van den; Sloots, C.E.; Bolt, J.M.; Wijnen, R.M.H.; Blaauw, I. de; Ijsselstijn, H.

    2015-01-01

    INTRODUCTION: Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are congenital malformations requiring pelvic floor surgery in early childhood, with possible sequelae for psychosexual development. AIMS: To assess psychosexual well-being in adult ARM and HD patients related to health-rel

  19. Congenital complete and partial absence of the left pericardium.

    Science.gov (United States)

    Jurko, Alexander; Minarik, Milan; Cisarikova, Viera; Polacek, Hubert; Schusterova, Ingrid

    2013-09-01

    Congenital absence of pericardium is a rare malformation. We report 2 young patients with a diagnosis of congenital absence of the pericardium. The posteroanterior view of the chest X-ray showed displacement of the left cardiac border into the left hemithorax. Unusual acoustical windows and abnormal cardiac and septal motion during echocardiography suggested the diagnosis of congenital absence of pericardium. Magnetic resonance imaging definitive confirmed diagnosis of congenital absence of pericardium.

  20. Successful aortic root replacement and shunt closure in a case with rare coexistence of congenital cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale.

    Science.gov (United States)

    Egashira, Toru; Shimizu, Hideyuki; Yamada, Yoshitake; Fukuda, Keiichi

    2014-10-01

    This is the first report of rare simultaneous complication of three cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale. We successfully operated to replace the aortic valve and ascending aorta, and to close the patent foramen ovale.

  1. Cerebral malformations in Carpenter syndrome.

    Science.gov (United States)

    Taravath, S; Tonsgard, J H

    1993-01-01

    The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.

  2. Changes of intestinal microflorae in infants with congenital anorectal malformation after the surgery :a prospective study%先天性肛门直肠畸形患儿术后肠道菌群变化的前瞻性研究

    Institute of Scientific and Technical Information of China (English)

    安悦; 王佚; 李晓庆; 艾青; 余加林; 代英; 程茜

    2014-01-01

    Objective:To observe the changing trends of intestinal microflorae in the postoperative infants with congenital anorectal malformation(ARM).Methods:Real-time quantitative PCR was used to detect the numbers of three main intestinal microflorae in stools of 21 congenital ARM infants aged 10 d(the day before discharge),1 month and 3-4 months.The number of microflorae was compared between 21 congenital ARM infants and 21 normal infants.Results:(1)In congenital ARM 10 d group,the number of bifidobacteria versus the number of escherichia coli(B/E) was <1 ;the number of B/E was higher than that of bifidobacteria and lactobacilli in congenital ARM 10 d group(P=0.021,P=0.004) ;the number of lactobacilli was higher in congenital ARM 10 d group than in normal control group(P=-0.001).(2)B/E was increased in congenital ARM 1 month group(B/E>1) than in congenital ARM 10 d group (P=0.030).The number of bifidobacteria was increased significantly (P=0.001),higher than that of B/E or lactobacilliin congenital ARM 1 month group(P=-0.001 and P<0.001).The numbers of bifidobacteria and lactobacilli were higher in congenital ARM 1 month group than in normal control group(P=0.004 and P<0.001).(3)The number of lactobacilli was lower in congenital ARM 3-4 months group than in congenital ARM 1 month group(P=0.005) and there was no difference in the number of lactobacilli congenital ARM 3-4 months group and normal control group(P=0.571).The number of bifidobacteria was higher in congenital ARM 3-4 months group than in normal control group(P=0.004).(4)The number of bifidobacteria was higher in infants taking probiotics continuously in congenital ARM-4 months group than in infants in normal control group(P=0.013) whereas there was no significant difference in the number of bifidobacteria between infants taking probiotics discontinuously in congenital ARM 3-4 months group and infants in normal control group(P=0.032).Conclusion:(1)B/E is the predominant bacteria and the number of

  3. Genetics Home Reference: ALG12-congenital disorder of glycosylation

    Science.gov (United States)

    ... FW, Aylsworth AS, Freeze HH. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am ...

  4. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

    NARCIS (Netherlands)

    Aten, E.; Hollander, N. den; Ruivenkamp, C.; Knijnenburg, J.; Bokhoven, J.H.L.M. van; Dunnen, J. den; Breuning, M.

    2009-01-01

    Congenital limb malformations are the second most common birth defects observed in infants. Split hand foot malformation (SHFM), also known as central ray deficiency, ectrodactyly and cleft hand/foot, occurs isolated or in combination with other malformations. We report on a male patient with SHFM,

  5. Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.

    Directory of Open Access Journals (Sweden)

    Koichiro Abe

    Full Text Available Congenital vertebral malformations caused by embryonic segmentation defects are relatively common in humans and domestic animals. Although reverse genetics approaches in mice have provided information on the molecular mechanisms of embryonic somite segmentation, hypothesis-driven approaches cannot adequately reflect human dysmorphology within the population. In a N-ethyl-N-nitrosourea (ENU mutagenesis project in Kyoto, the Oune mutant rat strain was isolated due to a short and kinked caudal vertebra phenotype. Skeletal staining of heterozygous rats showed partial loss of the cervical vertebrae as well as hemivertebrae and fused vertebral blocks in lumbar and sacral vertebrae. In homozygous embryos, severe displacement of the whole vertebrae was observed. The Oune locus was genetically mapped to rat chromosome 1 using 202 backcross animals and 50 genome-wide microsatellite markers. Subsequently, a miss-sense mutation in the Tbx6 gene was identified in the critical region. Although the mutation is located within the T-box domain near a predicted dimmer-interface, in vitro experiments revealed that the Tbx6 variant retains normal DNA binding ability and translational efficiency. However, the variant has decreased transcriptional activation potential in response to Notch-mediated signaling. Recently, it was reported that a dominant type of familial spondylocostal dysostosis is caused by a stoploss mutation in TBX6. Thus, we propose that partial dysfunction of Tbx6 leads to similar congenital vertebral malformations in both humans and rats. The Oune strain could be a unique animal model for dominant spondylocostal dysostosis and is useful for molecular dissection of the pathology of congenital vertebral malformations in humans.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 先天性肺囊性腺瘤样畸形的超微结构与组织分型对照分析%Comparative analysis in ultrastructure and histological types for congenital cystic adenomatoid malformation

    Institute of Scientific and Technical Information of China (English)

    洪淳; 俞钢; 张佳立; 郭雪贞

    2016-01-01

    目的 通过了解先天性肺囊性腺瘤样畸形(CCAM)的超微结构特征,探讨其影像分型与病理分型及电镜下超微结构之间的关系.方法 选取广东省妇幼保健院2014年5月至11月间的CCAM病例,应用增强肺部CT进行影像学分型;将手术标本进行HE染色,并利用电镜技术,对比观察各分型的组织结构.结果 选取8例CCAM作为研究对象,其中男5例,女3例;手术年龄(5.4±1.1)个月.影像学分型中,大囊型(Ⅰ型)(直径>2 cm)2例;小囊型(Ⅱ型)(直径≤2 cm)3例;微囊型(Ⅲ型)3例.病理分型Ⅰ型1例,Ⅱ型4例,Ⅲ型3例.其中1例CT分型为Ⅰ型,病理分型为Ⅱ型;其余均一致.电镜下普遍显示为肺泡腔扩大,肺泡细胞减少,板层小体少,不成熟;微绒毛减少.从电镜角度分析,Ⅰ、Ⅱ型之间,并非有着明显区别.Ⅰ、Ⅱ型共同的特点包括了肺泡腔多以扩大为主,在扩大的肺泡腔之间存在少数受压缩小的肺泡腔;肺泡细胞均出现数量少、不成熟的表现,纤维组织增生.结论 CCAM超微结构分析与临床病理分型存在差异,提示了电镜超微结构分析与病理的结合对于CCAM分型的重要性.需要进一步进行光镜-电镜的对照分型;并结合随访作出相关的预测模型.%Objective To explore relationship between imaging classification and pathological type,and the electron microscopic ultrastructure by observing the ultrastructural features of congenital cystic adenomatoid malformation (CCAM).Methods Children with CCAM in the Guangdong Women and Children Hospital from May 2014 to November 2014,were analyzed,imaging classification was performed according to enhanced Computed Tomography (CT) scanning,and the surgical specimens were stained by HE and scanning electron microscope was used to observe the tissue structures of various of CCAM.Results Eight cases were enrolled in this research (5 boys and 3 girls),and the mean age of surgery was (5.4 ± 1.1) month old.According to the

  11. Concomitant malformations and chromosomal abnormalities in prenatally diagnosed congenital diaphragmatic hernia%胎儿先天性膈疝及其相关异常的产前诊断

    Institute of Scientific and Technical Information of China (English)

    郑菊; 谢红宁; 李丽娟; 林美芳; 朱云晓

    2010-01-01

    Objective To analyze the concomitant malforrnations,chromosomal abnormalities and outcomes in prenatally diagnosed congenital diaphragmatic hernia (CDH) cases. Methods Cases of fetal CDH,prenatally identified in the First Affiliated Hospital of Sun Yat-sen University from January 2002 to November 2008,were recruited.The concomitant realformations,chromosomal abnormalities and outcomes of fetal CDlH were analyzed.Fisher's exact test was applied. Results During the study period,71 CDH cases were identified including 62(87.3%) left-sided CDH and 9 (12.7%) right-sided ones.Among the 71 CDH fetuses,38(53.5%)were isolated CDH.33 (46.5%)were complicated with other realformations(complex CDH),including 18(54.5 0A) cardiovascular defects,10 (30.3%)central nervous system abnormalities,9(27.2 0A)genitourinary abnormalities and others.Fetal karyotying was performed in 19 out of the 71 CDH fetuses.among which 12 were isolated CDH cases with normal karyotype,and 4 of the rest 7(4/7)complex CDH cases with chromosomal abnormalities showing a significant differenee compared to the isolated CDH (P.0.009).Sixty-five pregnancies were terminated including all complex CDH(n=33)and 32 isolated CDH.The rest 6 isolated CDH fetuses were term delivered and 5 of them survived after repair of diaphragmatic hernia and one died after birth. Conclusions Left-sided CDH are more common than right-sided ones. Approximately half of the CDH cases are complicated with other malformations,especially cardiovascular abnormalities.The risk of chromosomal abnormalities increases in complex CDH and is relatively low in isolated CDH.The influence of surgical procedure on the prognosis of CDH has not yet determined.%目的 分析胎儿先天性膈疝与合并其他畸形及染色体异常的相关性,探讨可能影响膈疝预后的因素. 方法 总结2002年1月至2008年11月在我院产前超声诊断的胎儿膈疝病例,分析其类型、合并畸形种类、与染色体异常的关系及临床结局.

  12. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    Energy Technology Data Exchange (ETDEWEB)

    Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

    2003-01-01

    Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

  13. 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 ...

  14. Cardiac and non-cardiac malformations produced by Mercury in hamsters. [None

    Energy Technology Data Exchange (ETDEWEB)

    Gale, T.F.

    1980-11-01

    The susceptibility of the developing mammalian embryo to the adverse effects of mercury is well documented. A variety of organic mercury compounds have been demonstrated to produce embryotoxic effects in experimental animals. HARADA recently summarized the reports of human intrauterine methylmercury poisoning, i.e., congenital Minamata disease, resulting from the ingestion of contaminated food. Ongoing studies in this laboratory have involved several different aspects of the embryotoxicity produced by inorganic mercury in hamsters including a dose response study, the interaction of mercuric acetate with cadmium and zinc, the effect of different routes of administration, the placental permeability of /sup 203/Hg and the embryotoxic response in several different hamster strains. Little is known regarding a human syndrome of congenital malformations characterized by ectopia cordis, internal cardiac defects and abnormalities of the diaphragm and ventral body wall. Most papers regarding this human syndrome are clinical reports describing the characteristics and management of specific cases; only speculative information is provided regarding etiology and possible embryopathic mechanisms. The observation that a similar syndrome, which will be designated CNC for cardiac and non-cardiac malformations, can be produced by mercury in hamsters prompted the present study. The specific goals of this study were 1) to study the effect of treating pregnant hamsters at different times during embryonic organogenesis to determine the time which produces the highest incidence of the CNC syndrome and whether different treatment times modify the morphological characteristics of the inclusive malformations and 2) to study the structural features of all mercury-induced external and internal abnormalities of the CNC syndrome in late gestation fetuses.

  15. Karyotyping analysis of 396 newborns with congenital malformations and chromosomal abnormalities and the associated phenotypes%新生儿先天畸形396例染色体异常核型及其表型临床特征分析

    Institute of Scientific and Technical Information of China (English)

    王红英; 李海波; 何亚香; 杨乃超; 邵雪君; 薛永权

    2014-01-01

    目的 研究新生儿畸形的主要染色体核型及其临床表型.方法 对2006年1月至2012年5月在苏州大学附属儿童医院就诊的396例先天畸形新生儿按常规方法制备外周血淋巴细胞染色体,G显带并进行核型分析;对各型核型异常患儿的临床表型进行统计分析.结果 1.新生儿396例中检出外周血染色体异常核型159例,异常率为40.2%,其中国内外首次报道3例.2.异常核型中以21-三体(唐氏综合征)最为常见,共130例,占81.8%,其中119例为标准型,10例合并涉及D组或G组的罗伯逊易位,1例伴有性染色体异常.3.其他常见异常核型依次为del(5) (p12-14)4例、18-三体4例、45,XO 4例、inv(9) (p11q12-21)4例、X-三体1例、Rob(13;14)1例、8-三体1例、del(18) (q22)1例等.4.染色体病的临床表型有特殊面容147例(92.5%)、先天性心脏病97例(61.0%)、低出生体质量72例(45.3%)、先天性肛门闭锁13例(8.1%)、多发性畸形11例(6.8%)、肠畸形10例(6.2%)、外生殖器异常9例(5.7%)、猫叫样哭声4例(2.5%)、四肢水肿4例(2.5%)、指趾异常6例(3.6%)、先天性脑发育不良6例(3.6%)、颈蹼5例(3.1%)和唇腭裂3例(1.8%)等.结论 染色体核型异常是导致新生儿先天性疾病的重要因素;特殊面容、先天性心脏病、低出生体质量、多发性畸形是新生儿染色体病的主要临床体征.%Objective To reveal the chromosome abnormalities and their relationship with the clinical phenotype of neonates with congenital malformation.Methods Karyotype analysis of peripheral blood lymphocytes was performed on 396 newborns with congenital malformation,who were recruited at the Children's Hospital Affiliated to Soochow University from Jan.2006 to May 2012,chromosome karyotypes were prepared with neonatal peripheral lymphocytes by conventional G-banding technique.Results 1.Of 396 newborns,159 (40.2%) cases were detected to have chromosomal abnormalities

  16. The Diagnostic Value of Prenatal Ultrasound Screening for Complex Con-genital Cardiac Malformations During the Middle and Middle Pregnancy%中孕期胎儿产前超声筛查对复杂先天性心脏畸形的诊断价值探讨

    Institute of Scientific and Technical Information of China (English)

    李佳; 黄文英; 孙格格

    2015-01-01

    目的 分析妊娠中期胎儿行产前超声筛查对复杂先天性心脏畸形的临床诊断价值. 方法 整群选取该院2014年4月-2015年4月收治的5 800例妊娠中期的孕妇作为研究对象, 对其超声结果与产后的随访记录进行进一步分析. 结果共检出32例胎儿患有复杂先天性心脏畸形,检出率为0.55%.彩色多普勒超声诊断仪对单心房或单心室、大动脉转位、心内膜垫缺损、主动脉弓中断、永存动脉千、左心或右心发育不良、合并心外畸形、法洛四联征、左室横纹肌瘤和室间隔缺损进行筛查时,其检出率和随访记录差异无统计学意义;漏诊率为0.05%,漏诊的患儿分别为肺动脉狭窄、法洛四联征和室间隔缺损各1例. 结论 妊娠中期对胎儿进行产前超声筛查对其复杂先天性心脏畸形的临床诊断准确率较高,可降低复杂先天性心脏崎形胎儿出生率.%Objective To analyze the clinical diagnostic value of prenatal ultrasound screening for complex congenital cardiac mal-formations in the middle trimester of pregnancy. Methods In our hospital in April 2014 to 2015 April of 58 cases of prenatal ul-trasound screening in the second trimester pregnant women as the object of study and analysis of the ultrasonic imaging data and clinical data were retrospectively. The ultrasonic results and postpartum follow-up records for further analysis. Results 5 800 cases of pregnant women were checked out in 32 fetuses with complex congenital heart malformation, the detection rate was 0.55%. Col-or Doppler ultrasonic diagnostic apparatus of single atrial or ventricular, great artery transposition, endocardial cushion defect, aor-tic arch interruption, persistent truncus arteriosus thousand, left right heart or heart development adverse, with extra cardiac malfor-mations, tetralogy of Fallot, left ventricular rhabdomyoma and ventricular septal defect screening, by comparing the detection rate and follow-up record, the

  17. Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations

    Directory of Open Access Journals (Sweden)

    Timothy J. Bauler

    2011-03-01

    SHP-2 (encoded by PTPN11 is a ubiquitously expressed protein tyrosine phosphatase required for signal transduction by multiple different cell surface receptors. Humans with germline SHP-2 mutations develop Noonan syndrome or LEOPARD syndrome, which are characterized by cardiovascular, neurological and skeletal abnormalities. To study how SHP-2 regulates tissue homeostasis in normal adults, we used a conditional SHP-2 mouse mutant in which loss of expression of SHP-2 was induced in multiple tissues in response to drug administration. Induced deletion of SHP-2 resulted in impaired hematopoiesis, weight loss and lethality. Most strikingly, induced SHP-2-deficient mice developed severe skeletal abnormalities, including kyphoses and scolioses of the spine. Skeletal malformations were associated with alterations in cartilage and a marked increase in trabecular bone mass. Osteoclasts were essentially absent from the bones of SHP-2-deficient mice, thus accounting for the osteopetrotic phenotype. Studies in vitro revealed that osteoclastogenesis that was stimulated by macrophage colony-stimulating factor (M-CSF and receptor activator of nuclear factor kappa B ligand (RANKL was defective in SHP-2-deficient mice. At least in part, this was explained by a requirement for SHP-2 in M-CSF-induced activation of the pro-survival protein kinase AKT in hematopoietic precursor cells. These findings illustrate an essential role for SHP-2 in skeletal growth and remodeling in adults, and reveal some of the cellular and molecular mechanisms involved. The model is predicted to be of further use in understanding how SHP-2 regulates skeletal morphogenesis, which could lead to the development of novel therapies for the treatment of skeletal malformations in human patients with SHP-2 mutations.

  18. 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.

  19. DNA methylation abnormalities in congenital heart disease.

    Science.gov (United States)

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  20. Chiari-I malformation in two fighter pilots.

    Science.gov (United States)

    Akin, Ahmet; Canakci, Zafer; Sen, Ahmet; Tore, Hasan F

    2003-07-01

    This report describes two cases of Chiari Malformation Type I (Chiari-I) in fighter pilots of the Turkish Air Force. Chiari-I is a congenital malformation characterized by herniation of cerebellar tonsils through the foramen magnum. Patients have symptoms and signs related to dysfunction of the brainstem, spinal cord, and cerebellum. They generally are symptomatic in the earlier years of life. However, asymptomatic cases can eventually become symptomatic in later years. Symptoms can be provoked by increasing intracranial pressure (Valsalva or straining). We report on two pilots with Chiari-I malformation who had no symptoms or signs in their daily activities. Furthermore, these pilots had successfully completed physiological training, including centrifuge training, without any symptoms. However, they suffered from headache, neck spasms, and/or disequilibrium under +Gz during flight training sorties. The clinical presentation, diagnosis, treatment, possibility of acquired cases, and aeromedical disposition of Chiari malformations are discussed.

  1. 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

  2. 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.

  3. 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

  4. Congenital Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    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

  5. Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

    Science.gov (United States)

    Ta-Shma, Asaf; El-lahham, Nael; Edvardson, Simon; Stepensky, Polina; Nir, Amiram; Perles, Zeev; Gavri, Sagui; Golender, Julius; Yaakobi-Simhayoff, Nurit; Shaag, Avraham; Rein, Azaria J J T; Elpeleg, Orly

    2014-04-01

    Truncus arteriosus (TA) accounts for ~1% of congenital heart defects. The aetiology of isolated TA is largely unknown but when occurring as part of a syndrome, it is mostly associated with chromosome 22q11 deletion. Vice versa, the most common congenital heart defects associated with chromosome 22q11 deletion are conotruncal malformations. In this study we investigated the cause of multiple conotruncal malformations accompanied by athymia in a consanguineous family. Whole exome analysis revealed a homozygous deleterious mutation in the NKX2-6 gene. NKX2-6 encodes a homeobox-containing protein which is expressed in mouse embryo at E8.0-E9.5 at the caudal pharyngeal arches and the outflow tract. A single missense mutation was previously implicated in the aetiology of familial isolated TA; however, null mice are entirely normal. The clear phenotype associated with a homozygous deleterious mutation in the present report, falls well within the spectrum of the cardiac defects seen in DiGeorge syndrome, is in agreement with NKX2-6 downstream location in the TBX1 signalling pathway and confirms NKX2-6 role in human cardiogenesis.

  6. HISTOLOGICAL STUDY OF NEONATAL BOWEL IN ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Amrish Tiwari

    2014-06-01

    Full Text Available Anorectal malformations are the congenital condition, seen in approximately 1 in 5000 live births. It affects male and female in the ratio of 1.3:1. Anorectal malformations include a wide range of malformations, that not only involves the anus and rectum, but it also involves urinary and genital tract. Aims and objectives of the study, was to understand the structures involved in anorectal malformations by histological study of surgically excised segments of involved part of neonatal intestine and to understand the degree and cause of possible structural impairment in different segments of involved parts of neonatal bowel that may help in the surgical management of anorectal malformations. Present study was conducted on surgically excised segments of fifteen cases of anorectal malformations, that have been collected from Department of Paediatrics Surgery, IMS, BHU. After that processing of the samples have been done and blocks have been prepared. Then after sectioning and staining with Hematoxyline and Eosin, findings have been noted under the microscope. Histopathological examination revealed the abnormalities of varying degrees. To conclude this study supports that the malformed segments should be excised, regarding controversial issue of preserving or excising the distal segment of anorectum for better functional outcome.

  7. Congenital hemifacial hyperplasia

    Directory of Open Access Journals (Sweden)

    S A Deshingkar

    2011-01-01

    Full Text Available Congenital hemifacial hyperplasia (CHH is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge.

  8. Congenital pachygyria

    Directory of Open Access Journals (Sweden)

    Jing-xia HU

    2016-02-01

    Full Text Available Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2 and vimentin (Vim or neurofilament protein (NF. Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6, while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD type Ⅱ b and tuberous sclerosis complex (TSC. Clinical history, imaging and histological features should be included in the diagnosis. DOI: 10.3969/j.issn.1672-6731.2016.02.005

  9. Pediatric aneurysms and vein of Galen malformations

    Science.gov (United States)

    Rao, V. R. K.; Mathuriya, S. N.

    2011-01-01

    Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist. PMID:22069420

  10. [Recurrent meningitis in inner ear malformations].

    Science.gov (United States)

    Claros, Pedro; Matusialk, Monika

    2008-01-01

    Authors present two cases of children with reccurent meningitis and unilateral deafness. Implemented diagnostics (CT, NMR, ABR) revealed one side inner ear congenital malformation in one case and anterior fossa bony defect accompanied by labirynthine deformation in the other case. The presence of perilymphatic fistulae in oval and round windows and cerebrospinal fluid leakage has been confirmed in both cases during surgery. Carefull obliteration of the Eustachian tube and both windows has been performed. Non- complicated postoperative course (2 months and 6 years - respectively) has prooved the effectiveness of applied treatment.

  11. Case series: Congenital left ventricular diverticulum

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    Shah Dharita

    2010-01-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

  12. 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.

  13. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

    DEFF Research Database (Denmark)

    Russell, Meaghan K; Longoni, Mauro; Wells, Julie

    2012-01-01

    Congenital diaphragmatic hernia (CDH) is a common (1 in 3,000 live births) major congenital malformation that results in significant morbidity and mortality. The discovery of CDH loci using standard genetic approaches has been hindered by its genetic heterogeneity. We hypothesized that gene expre...

  14. Clinical Features of Children with Congenital Malformations of Inner Ear in Sensorineural Hearing Loss%儿童感音神经性耳聋中先天性内耳畸形的临床特征

    Institute of Scientific and Technical Information of China (English)

    李幼瑾; 杨军; 李蕴

    2011-01-01

    目的:分析在儿童感音神经性耳聋(sensorineural hearing loss,SNHL)中先天性内耳畸形患儿的影像学及临床特征.方法:回顾分析860例SNHL患儿中因听力障碍(109例) 、外耳畸形(3例)、面部异常(13例)来就诊的125例(225耳)患儿的临床资料.结果:109例(87.2%)患儿因听力障碍就诊,母亲妊娠早期有感冒史52例(41.6%).166耳(73.8%)极重度耳聋,累及双侧100例(80%).颞骨高分辨率CT或磁共振成像(MRI)显示其中同时合并外耳及中耳畸形3耳,合并中耳畸形13耳.Michel 畸形2例(4耳),耳蜗不发育1例(1耳),共同腔畸形10例(14耳),不完全分隔-I型2例(2耳),耳蜗前庭发育不良2例(2耳),不完全分隔-II型(Mondini 畸形)19例(29耳).累及前庭导水管扩大91例(170耳)(75.6%),半规管畸形30例(46耳)(20.6%),内听道畸形35例(49耳)(21.7%).结论:前庭导水管扩大是儿童SNHL中最常见的内耳影像学异常.患儿多为双侧重度听力损失或全聋.对于先天性内耳畸形的患儿行高分辨率CT检查非常重要.%Objective: To study the clinical features of inner ear malformations with sensorineural hearing loss(SNHL)in children Methods: Retrospective chart review, 860 patients with SNHL,of which 125 children(225 ears) with inner ear malformations diagnosed with temporal bone computed tomography (CT) scans who referred to the Ear, Nose and Throat (ENT) Department of Children Medical Center from February 2005 to January 2010,109 cases due to hearing loss and other 3 cases due to external ear malformations, 13 cases due to face abnormality, were retrospectively studied. Results: A total of 109(87.2%) cases were found hearing loss, 52 cases (41.6%)mothers were noted to have caught a cold in first trimester of pregnancy. Hearing loss was typically bilateral in 100 ears(80% ) ,and profound sensorineural hearing loss in 166 ears (73.8%). Of the total, 3 ears were accompanied by outer and middle ear malformations, 13 ears accompanied by

  15. Cochlear implant in patients with congenital malformation of the inner ear%先天性内耳畸形患者人工耳蜗植入的临床体会

    Institute of Scientific and Technical Information of China (English)

    万良财; 郭梦和; 钱宇虹; 刘双秀; 张宏征; 陈帅君; 陈浩; 龚剑

    2009-01-01

    Objective To summarize the clinical experience with multi-channel cochlear implantation in patients with inner ear malformations and evaluate and the outcomes of speech rehabilitation. Methods A retrospective study was conducted in 295 patients receiving cochlear implantation from 1998 to 2007, including 25 patients with large vestibular aqueduct syndrome (LVAS), 9 with Modini malformation, and 5 with common cavity deformity. All the patients received the Nucleus24 cochlear implants. In LVAS cases, 4 had Nucleus 24R (ST) implants, 8 had Contuor implants, 10 had Contuor Advance, and the remaining cases used Nucleus24(M) straight-electrode implants. Results Severe gusher appeared in 3 cases of LVAS, and perilymph fluctuation were seen in aother 15 cases. Four patients with Mondini malformation and 2 with common cavity malformation also experienced severe gusher, but the electrodes were inserted smoothly in all the patients without postoperative facial paralysis or cerebrospinal fluid leakage. The hearing threshold in these patients was similar to that in patients with normal cochlear structure. After speech rehabilitation for over 6 months, the abilities of speech discrimination and spoken language improved in all the cases in comparison with the preoperative lingual functions. Conclusion Multi-channel cochlear implantation can be performed in patients with inner ear malformation, but should not be attempted in patients with poor cochlear and cochlear nerve development. A comprehensive pre-operative radiographic and audiological evaluation is essential.%目的 探讨先天性内耳畸形重度或极重度感音神经性聋患者人工耳蜗植入方法及术后言语康复效果.方法 回顾性分析1998-2007年于我科行人工耳蜗植入295例患者的临床资料,其中前庭水管扩大25例,Modini畸形9例,共同腔畸形5例.所有患者均采用澳大利亚Nucleus24型人工耳蜗.对大前庭水管综合症患者,4例采用Nucleus 24R(ST)型植入体.8

  16. Nutritional Approach of Pediatric Patients Diagnosed with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    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.

  17. 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.

  18. 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.

  19. Shh/Bmp4信号在直肠末端的表达与先天性肛门直肠畸形发生的关系%Down-regulation of Shh/Bmp4 signaling pathway in congenital ano- rectal malformations

    Institute of Scientific and Technical Information of China (English)

    张娟; 张志波; 高红; 王维林

    2008-01-01

    Objective To assess the relationship between the expression of Shh/Bmp4 signaling pathway and congenital anorectal malformations (CAM). Methods The posterior wall of terminal rectum of 40 anorectal malformation patients (15 high and 25 low) and 10 normal controls were sampled. The Shh、Gli2 and Bmp4 mRNA were extracted, assayed by RT-PCR and the difference between the two groups was compared. Results The expression levels of Shh、 Gli2 and Bmp4 mRNA were significantly lower in high CAM than those in low CAM and in control group. There was no significant difference between the low CAM and control group except the Gli2 gene. Conclusions Down-regulation of Shh/Bmp4 signaling pathway may be one of the factors contributing to the pathogenesis of CAM. There may be other mechanisms involved in low CAM.%目的 研究先天性肛门直肠畸形(CAM)直肠末端Shh/Bmp4信号表达水平,探讨其与畸形发生的关系.方法 采用RT-PCR方法检测15例高位CAM、25例低位CAM和10例正常对照组直肠后壁末端Shh、Gli2和Bmp4表达水平,比较正常组与CAM组、CAM组不同类型之间表达水平的差异.结果 高位CAM的Shh、Gli2和Bmp4表达水平明显低于正常及低位CAM(P0.05).结论 高位CAM的发生可能与Shh/Bmp4信号表达下调有关,低位CAM可能涉及其他机制.

  20. A Histological Study of the Plexuses and Ganglionic Cells in the Distal Rectal Wall in Congenital Anorectal Malformations%先天性肛门直肠畸形直肠远端肠肌丛及肌间神经节细胞的观察

    Institute of Scientific and Technical Information of China (English)

    王常林; 李正

    1987-01-01

    A postmortal histological study of the enteric plexuses and ganglionic cells in the distal rectal wall was made on 22 infants with congenital anorectal malformation,and 5 normal died newborns as controls.The rectal wall under study was 2 cm in length:12 from patients of supralevafor type deformity,6 from intermediate.and 4 from infralevator type deformity(3 out of these 4 having been operated).Normal plexuses and ganglionic cells are found in the distal segment of the rectum of all patients.The number of the plexuses and ganglionic cells does not vary as the types of the malformation,but does vary as the birthweight of the babies and the thickness of the rectal wall.The number of plexuses and ganglionic cells in 3 patients with vestibular fistula is same as that in normal infants. but they a re absent in the distal rectal wall of 1 to 2 cm in length in the postoperated patients.%22例肛门直肠畸形儿直肠远端2 cm肠壁做了肌间神经丛、神经节细胞组织学观察.结果,直肠远端有神经丛、神经节细胞分布.神经节细胞发育程度,与直肠盲端位置无关,与出生体重有关;而神经丛、神经节细胞数量,与肠壁薄厚有关.术后有一部分肠壁有坏死灶,神经丛、神经节细胞消失.

  1. Pulmonary Arteriovenous Malformations

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Oxhøj, H; Andersen, P E

    1999-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM....

  2. Vascular malformations in the maxillofacial region

    Directory of Open Access Journals (Sweden)

    M. Jafari

    1994-06-01

    Full Text Available Congenital vascular lesions occur most often in children. Parents of these children take them to maxillofacial surgeons directly or during the treatment of other complications such as infection or jaw bone disorders. Various terms now used are unable to describe the pathogenesis and mechanism of the effect of vascular lesions on growth and development of facial bone.  Term of hemangioma is used in almost all cases of congenital and acquired vascular lesions, while fibrosis or shrinkage occurs in some of these lesions over the time. There is also some confusion in describing the vascular lesions which primarily affected bones and soft tissue vascular malformations associated with changes in hard tissues.

  3. 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.

  4. Incidência de malformações congênitas em crianças concebidas através de injeção intracitoplasmática de espermatozóides Incidence of congenital malformations in children conceived through intracytoplasmic sperm injection

    Directory of Open Access Journals (Sweden)

    Edilberto de Araújo Filho

    2006-02-01

    types of major congenital malformations (MCM in liveborn children conceived by intracytoplasmic sperm injection (ICSI. METHODS: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 680 liveborn, 520 had been evaluated, 250 of them (48.1% through questionnaire and 270 (51.9% through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the c² test (level of significance p0.05, which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated, corresponding to 40% of the total. The other types of MCM were: renal (three, neural tube (two, skull (one, cleft lip (one, genital (one, Down syndrome (associated with cardiac malformations (two, and musculoskeletal (one. Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. CONCLUSION: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9% near to the expected for the general population (2.6%. However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.

  5. 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.

  6. [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.

  7. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    Full Text Available Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II. In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down’s syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.

  8. 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

  9. Imaging features of ductal plate malformations in adults

    Energy Technology Data Exchange (ETDEWEB)

    Venkatanarasimha, N., E-mail: nandashettykv@yahoo.com [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom); Thomas, R.; Armstrong, E.M.; Shirley, J.F.; Fox, B.M.; Jackson, S.A. [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom)

    2011-11-15

    Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

  10. Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.

    Science.gov (United States)

    Larralde, Margarita; Abad, María Eugenia; Luna, Paula Carolina; Hoffner, Mariana Viktoria

    2014-04-01

    Capillary malformation-arteriovenous malformation (CM-AVM) is a recently described autosomal dominant disorder that results from mutations in RASA1. It has been initially described as multiple CMs affecting several members of the same family, associated with fast-flow malformations in at least one family member. To report and analyze clinical data on 45 patients with CM-AVM assessed at the Department of Pediatric Dermatology, Ramos Mejía Hospital (Buenos Aires, Argentina). Retrospective clinical review of all the patients clinically diagnosed as having CM-AVM over a period of eight years. Forty-five patients were recorded (24 females and 21 males). The age ranged from one month to 44 years. In 36 patients, the stains were congenital; progressive acquired lesions were observed in 39. Family history was positive in 32 subjects. Well defined, round to oval, pink-purple or reddish-brown macules were found in all the patients; pinpoint red lesions with a pale halo were found in nine cases. The macules were warmer than normal skin in 15 cases and surrounded by a white halo in 26 cases. Three subjects presented associated overgrowth, lymphatic malformation was present in one case, retinal vascular lesion in one patient, and isolated port wine stain in two cases. Three patients also had infantile hemangioma. We had no cases of fast-flow vascular malformation or combined vascular syndromes. CM-AVM is a heterogeneous disorder with phenotypic variability, from fast-flow malformation, limb enlargement, or Parkes Weber syndrome to multiple CMs without internal involvement. © 2013 The International Society of Dermatology.

  11. 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

  12. 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

  13. 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...

  14. 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

  15. 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.)

  16. Persistent congenital milia with naevus spilus

    Directory of Open Access Journals (Sweden)

    Mishra Dharmendra

    1995-01-01

    Full Text Available We are reporting a case of solitary persistent left-sided endoareolar congenital milia in association with no serious malformation or abnormality of any structure except the presence of naevus spilus, on the back of the ipsilateral forearm.

  17. 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 ...

  18. Perpetual dilemma: Pleural or parenchymal/congenital or acquired solitary cystic lesion with fluid level.

    Science.gov (United States)

    Talwar, Deepak; Jha, Onkar; Sharma, Rahul Kumar; Saxena, Rajat

    2017-01-01

    Congenital cystic adenomatoid malformations (CCAMs) are rare congenital, nonhereditary developmental anomalies of the lung with unknown etiology. CCAM is predominantly a disorder of infancy with the majority of the cases being diagnosed within the first 2 years of life. When CCAM presents in adults, it represents a diagnostic dilemma and requires careful evaluation. We here report a case of large solitary congenital pulmonary cystic adenomatoid malformation with infection and hemorrhage, which was diagnosed as encysted hydropneumothorax on computerized tomography scans but turned out to be infected pulmonary cystic adenomatoid malformation after surgical excision.

  19. [Prevention of congenital malformations by means of folic acid - insurmountable problems due to the German penal code and German drug legislation when preparing a preconceptional model in Saxony-Anhalt].

    Science.gov (United States)

    Rösch, C; Steinbicker, V; Robra, B P; Kolbe, M; Heinrich, C

    2001-07-01

    For the last 20 years the prophylactic effect of the vitamin folic acid against the occurrence of neural tube defects has been known but in Germany this fact has not been realized by the public. The recommendations by medical institutions fail, among other reasons, because a folic acid prescription by gynaecologists comes too late in the course of events, i.e., women go to the gynaecologist when pregnancy has already set in and it is too late for preventive measures. An effective folic acid prophylaxis must take place before the onset of pregnancy. Data from the regional surveillance of congenital anomalies of the German Federal State of Saxony-Anhalt and interviews with women in maternity, as well as gynaecologists, indicate that there is a substantial knowledge deficit concerning folic acid prophylaxis. In 1998, therefore, a working group was set up in Saxony-Anhalt. It comprises representatives from interested institutions and has the goal of rectifying the knowledge deficit of women of childbearing age by way of a broad-based campaign while making use of the results of regional congenital anomalies monitoring. A pharmaceutical company was enlisted for cost-free distribution of its folic acid product. Legal problems with the prescription drug laws, the law against unfair competitive practices, the advertising of medicaments law and the SGB V (social code) made it impossible to procure multivitamins containing folic acid free of charge for women wanting a child. A highly differentiated legislation has hitherto prevented an elementary improvement in prevention.

  20. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

    Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.

  1. 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 ...

  2. Congenital pouch colon: is it really a rare pathology?

    Science.gov (United States)

    Atabek, Cüneyt; Demirbağ, Suzi; Sürer, Ilhami; Kocaoğlu, Murat; Ongürü, Onder; Calişkan, Bahadir; Oztürk, Haluk

    2007-12-01

    Congenital pouch colon is a condition of a shortened and pouch-like dilated colon and it is usually associated with an anorectal malformation. The pathogenesis and embryology of congenital pouch colon are not well understood, but dietary, environmental factors and familial inheritance may be contributing factors in this pathology. Most of the cases in the literature have been reported from India. This increased regional incidence may be attributed to the lack of awareness of this pathology or its mislabeling rather than regional distribution. Congenital pouch colon is classified into four types based on the length of the abnormal colon. A variable dilatation of the rectum and sigmoid is always present in anorectal malformation. However, there is no clear definition of a limit for the dilatation of the rectum and sigmoid observed in anorectal malformation. Furthermore, many surgeons do not routinely take a biopsy from a dilated rectum or sigmoid during a colostomy procedure in anorectal malformation cases. For these reasons, type IV congenital pouch colon can be easily underdiagnosed. Surgical treatment options in type IV congenital pouch colon include resection of the affected sites of the colon or excisional tapering coloplasty. In the undiagnosed cases, congenital pouch colon results in severe constipation and overflow incontinence. We herein report two additional new cases of type IV congenital pouch colon.

  3. Os profissionais de Enfermagem diante do nascimento da criança com malformação congênita Los profesionales de Enfermería en el nacimiento de un niño con malformación congénita Nursing professionals before of the birth of a child with congenital malformation

    Directory of Open Access Journals (Sweden)

    Iêda Maria Ávila Vargas Dias

    2007-03-01

    that used the History of Life Method and had as study subject the perception of the nursing staff about the experience acting in a child's birth with congenital malformation. The result allowed the construction of three thematic categories: the perception of the nursing staff when attending a child's birth with congenital malformation; the strategies used by the nursing team; and the factors that infuse on the performance of the team. The study evidenced that the experience of acting in malformed child's birth is noticed as much a pleased and gratifying experience, as a stressful and uncomfortable experience. The perception of that experience is influenced by the history of the individual's life; process of the professional's formation; time of performance and institutional support, concerning to the relation to the technical aspects, scientific and emotional ones.

  4. Amplificação por condução óssea em malformações congênitas: benefício e satisfação Amplification by bone conduction in congenital malformations: patient benefits and satisfaction

    Directory of Open Access Journals (Sweden)

    Elaine Cristina Moreto Paccola

    2013-06-01

    Full Text Available A deficiência auditiva é um dos achados clínicos mais comuns em sujeitos com malformações de orelha. O tratamento consiste em realizar a cirurgia e/ou adaptar o aparelho de amplificação sonora por via óssea (AASI VO. A intervenção precoce é fundamental para favorecer a estimulação auditiva e desenvolvimento da fala e linguagem. OBJETIVO: Caracterizar o perfil audiológico de sujeitos com malformação congênita de orelha externa e/ou média e avaliar o benefício e a satisfação destes com o uso de AASI VO. MÉTODO: Estudo descritivo, sujeitos com malformações congênitas bilaterais de orelha externa e/ou média, deficiência auditiva condutiva ou mista, moderada ou grave e usuários de AASI VO. Avaliação do benefício utilizando teste de reconhecimento de sentenças com ruído competitivo e medidas de ganho funcional e avaliação da satisfação utilizando questionário internacional QI - AASI. RESULTADOS: Foram avaliados 13 sujeitos, sendo 61% do sexo masculino e 80% com deficiência auditiva condutiva moderada ou grave. Houve melhor desempenho na avaliação proposta na condição com AASI, quando comparada à condição sem AASI. CONCLUSÃO: Os AASI VO retroauriculares apresentaram vantagens para a população estudada e devem ser considerados como uma opção para intervenção. A satisfação foi confirmada pelos escores elevados obtidos no QI - AASI.Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO. Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To characterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle

  5. Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.

    Directory of Open Access Journals (Sweden)

    Carlos Garrido-Allepuz

    Full Text Available Sirenomelia is a severe congenital malformation of the lower body characterized by the fusion of the legs into a single lower limb. This striking external phenotype consistently associates severe visceral abnormalities, most commonly of the kidneys, intestine, and genitalia that generally make the condition lethal. Although the causes of sirenomelia remain unknown, clinical studies have yielded two major hypotheses: i a primary defect in the generation of caudal mesoderm, ii a primary vascular defect that leaves the caudal part of the embryo hypoperfused. Interestingly, Sirenomelia has been shown to have a genetic basis in mice, and although it has been considered a sporadic condition in humans, recently some possible familial cases have been reported. Here, we report that the removal of one or both functional alleles of Shh from the Bmp7-null background leads to a sirenomelia phenotype that faithfully replicates the constellation of external and internal malformations, typical of the human condition. These mutants represent an invaluable model in which we have analyzed the pathogenesis of sirenomelia. We show that the signaling defect predominantly impacts the morphogenesis of the hindgut and the development of the caudal end of the dorsal aortas. The deficient formation of ventral midline structures, including the interlimb mesoderm caudal to the umbilicus, leads to the approximation and merging of the hindlimb fields. Our study provides new insights for the understanding of the mechanisms resulting in caudal body malformations, including sirenomelia.

  6. Clarithromycin in early pregnancy and the risk of miscarriage and malformation: a register based nationwide cohort study.

    Directory of Open Access Journals (Sweden)

    Jon Trærup Andersen

    Full Text Available BACKGROUND: The antibiotic clarithromycin has been associated with fetal loss in animals and a study has found a doubling in the frequency of miscarriages among women using clarithromycin in pregnancy. The aim of the study was to investigate whether clarithromycin use in early pregnancy was associated with an increased risk for miscarriages and major malformations. METHODS: We conducted a nationwide cohort study including all women in Denmark with a known conception between 1997 and 2007. The Fertility Database was used to identify all women giving birth and the National Hospital Register was used to identify all women with a record of miscarriage or induced abortion. Prescription data was obtained from the National Prescription Register. The primary outcome was the number of miscarriages and offspring with major congenital malformations among users of clarithromycin compared to non-users. RESULTS: We identified 931 504 pregnancies (705 837 live births, 77 553 miscarriages, and 148 114 induced abortions. 401 women redeemed a prescription of clarithromycin in the first trimester of which 40 (10.0% experienced a miscarriage and among the live born nine (3.6% had offspring with malformations. The hazard ratio (HR of having a miscarriage after exposure to clarithromycin was 1.56 (CI95% 1.14-2.13. There was no increased hazard of having a miscarriage when being exposed to penicillin or erythromycin. There was no increased prevalence (OR = 1.03 (CI95% 0.52-2.00 of having offspring with malformations after exposure to clarithromycin. CONCLUSIONS: We found an increased hazard of miscarriage but no increased prevalance of having offspring with malformations among women redeeming a prescription of clarithromycin in early pregnancy. This is supported by previous studies in animals and humans. However, further research is required to explore the possible effect of treatment indication on the associations found.

  7. Chromosomal anomalies in the etiology of anorectal malformations: a review.

    Science.gov (United States)

    Marcelis, Carlo; de Blaauw, Ivo; Brunner, Han

    2011-11-01

    Anorectal malformation (ARM) is a severe congenital anomaly that can occur either isolated or in association with other congenital abnormalities. It has a heterogeneous etiology with contribution of both genetic and environmental factors, although the etiological factors remain largely unknown. Several chromosomal abnormalities have been described in patients with an ARM. These chromosomal abnormalities could point to specific genes involved in the development of the anorectal canal and associated structures. This paper reviews the chromosomal abnormalities described in ARM and may act as a starting point to identify chromosomal regions containing putative anorectal development genes. Copyright © 2011 Wiley Periodicals, Inc.

  8. Anorectal malformations and pregnancy-related disorders : a registry-based case-control study in 17 European regions

    NARCIS (Netherlands)

    Wijers, C. H. W.; van Rooij, I. A. L. M.; Bakker, M. K.; Marcelis, C. L. M.; Addor, M. C.; Barisic, I.; Beres, J.; Bianca, S.; Bianchi, F.; Calzolari, E.; Greenlees, R.; Lelong, N.; Latos-Bielenska, A.; Dias, C. M.; McDonnell, R.; Mullaney, C.; Nelen, V.; O'Mahony, M.; Queisser-Luft, A.; Rankin, J.; Zymak-Zakutnia, N.; de Blaauw, I.; Roeleveld, N.; de Walle, H. E. K.

    2013-01-01

    Objective To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs). Design A population-based case-control study. Setting Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008. Population The study populati

  9. Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions

    NARCIS (Netherlands)

    Wijers, C.H.W.; Rooij, I.A.L.M. van; Bakker, M.K.; Marcelis, C.L.M.; Addor, M.C.; Barisic, I.; Beres, J.; Bianca, S.; Bianchi, F.; Calzolari, E.; Greenlees, R.; Lelong, N.; Latos-Bielenska, A.; Dias, C.M.; McDonnell, R.; Mullaney, C.; Nelen, V.; O'Mahony, M.; Queisser-Luft, A.; Rankin, J.; Zymak-Zakutnia, N.; Blaauw, I. de; Roeleveld, N.; Walle, H.E. de

    2013-01-01

    OBJECTIVE: To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs). DESIGN: A population-based case-control study. SETTING: Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008. POPULATION: The study popu

  10. Rare malformation of glans penis: arteriovenous malformation.

    Science.gov (United States)

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

  11. 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...

  12. Spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Benson, J.E.; Fletcher, B.D.; Olsen, M.

    1985-09-01

    The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.

  13. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    Directory of Open Access Journals (Sweden)

    Tirth R. Patel

    2016-01-01

    Full Text Available Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient’s risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis.

  14. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series

    OpenAIRE

    Niwa, Tetsu; Linda S de Vries; Manten, GTR; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko

    2016-01-01

    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often accompanied with malformations of cortical development (MCD). We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and MCD...

  15. Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report

    OpenAIRE

    Luis Rafael Moscote-Salazar; Nasly Zabaleta-Churio; Gabriel Alcala-Cerra; Andres M. Rubiano; Willem Guillermo Calderon-Miranda; Hernando Raphael Alvis-Miranda; Amit Agrawal

    2016-01-01

    Chiari malformation Type I (CM-I) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. The real cause behind this malformation is still unknown. Patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. The objective of this case report is to give a broad perspective on CM-I from the clinical findings obtained in a patient with asymptomatic non-communicating syringomy...

  16. Pediatric Stroke: The Importance of Cerebral Arteriopathy and Vascular Malformations

    OpenAIRE

    Beslow, Lauren A.; Jordan, Lori C

    2010-01-01

    Stroke is an important cause of neurologic morbidity in childhood. Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 children. This article will review recent literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations as stroke risk factors. Additional risk factors include congenital heart disease, sickle cell disease, and hematologic abnormalities among others. Outcomes ar...

  17. 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

  18. Headache precipitated by Valsalva maneuvers in patients with congenital Chiari I malformation Cefaléia precipitada por manobras de Valsalva em pacientes com malformação congênita de Chiari tipo I

    Directory of Open Access Journals (Sweden)

    Hugo André de Lima Martins

    2010-06-01

    Full Text Available The objective of this study was to characterize the headache precipitated by Valsalva maneuvers associated with Chiari type I malformation (CM-1. Nineteen patients were evaluated, with ages ranging from 30 to 75 years. Ten of them presented headache. Pain was more prevalent in the occipital (80% and frontal region (60%. The headaches were of significantly shorter duration in the women compared with the men. The frequency of headache crises was relatively high. All patients with Valsalva-related headache suffered from at least one episode per month. The most prevalent precipitating factors were coughing, which is well described in the literature, and sexual activity, which only now is recognized as an event associated with CM-1.Neste estudo, objetivou-se caracterizar a cefaléia desencadeada por manobra de Valsalva, em portadores de malformação de Chiari tipo 1 (MC-1. Foram avaliados 19 pacientes com idades variando entre 30 e 75 anos. Dentre estes, 10 apresentaram cefaléia. A região mais acometida foi a occipital (80% e frontal (60%. A cefaléia foi de duração bem menor nas mulheres em relação aos homens. A freqüência da cefaléia foi relativamente alta, com todos os pacientes apresentando pelo menos um episódio por mês. Os principais fatores desencadeantes foram a tosse, que já é bem descrita pela literatura, e a atividade sexual, que apenas recentemente foi associada a MC-1.

  19. Familial Brain Arteriovenous Malformations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-11-01

    Full Text Available Researchers at University Medical Centre Utrecht, the Netherlands, reviewed the literature on patients with familial brain arteriovenous malformations (BAVMs, and their age, sex, and clinical presentation were compared with those in population-based patients with sporadic BAVMs.

  20. ANORECTAL MALFORMATION FEMALE CHILDREN ONE STAGE PROCEDURE ASARP

    Directory of Open Access Journals (Sweden)

    Dhirendra

    2016-03-01

    Full Text Available CONTEXT Anorectal malformation is a common congenital defect in children and its management has evolved over the years. Anterior sagittal approach is established as a popular technique for the correction of anovestibular fistula in children with anorectal malformations due to advancement of technology magnification, muscle stimulation and precise placement of the anal canal within the external sphincter complex. AIMS To study the outcome of anterior sagittal approach as single stage procedure for anorectal malformations in female children at tertiary care centre. SETTINGS AND DESIGN Paediatric Surgery Department, Gandhi Medical College, Bhopal. A retrospective analysis. METHODS 24 female patients with congenital anorectal malformation who underwent Anterior Sagittal Anorectoplasty (ASARP as a single stage procedure were reviewed. The surgical procedure and its outcome were evaluated. RESULTS There was no case that had significant haemorrhage during or after procedure; 4 cases had rent in the posterior vaginal wall which was managed adequately due to early detection. There were six cases with wound infection. One case had dehiscence; three cases developed constipation, which was managed with dilation and bowel training. CONCLUSION ASARP as a single stage procedure without colostomy cover should be considered as a preferable option for the management of anovestibular fistula in female children.

  1. Possible association between different congenital abnormalities and use of different sulfonamides during pregnancy.

    Science.gov (United States)

    Czeizel, Andrew E; Puhó, Erzsébet; Sørensen, Henrik T; Olsen, Jørn

    2004-06-01

    The objective of the study presented here was to check the debated human teratogenic potential of sulfonamide drugs. Five different sulfonamides such as sulfamethazine, sulfathiourea, sulfamethoxypyridazine, sulfamethoxydiazine and the combination of sulfamethazine-sulfathiourea-sulfamethoxypyridazine were differentiated. Cases with congenital abnormalities were compared with their matched controls without congenital abnormalities in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Of 38,151 newborn infants without any congenital abnormalities (control group), 163 (0.4%) had mothers who were treated with the sulfonamides studied during pregnancy, while of 22,843 cases with congenital abnormalities, 140 (0.6%) had mothers who were treated with the sulfonamides studied during pregnancy. The analysis of cases and matched controls indicated a higher rate of cardiovascular malformation (adjusted prevalence odds ratios [POR] with 95% CI: 3.5, 1.9-6.4) and clubfoot (adjusted POR with 95% CI: 2.6, 1.1-6.2) in infants born to mothers with sulfonamide treatment in the second and third months of pregnancy. The detailed analysis of different sulfonamides showed a possible association between cardiovascular malformations (adjusted POR with 95%; CI: 6.5, 2.6-15.9), particularly ventricular septal defect (17.1, 1.3-141.1) and sulfamethoxydiazine during the second and third months of pregnancy. In addition, a possible association was found between clubfoot and sulfathiourea, both during the entire pregnancy (adjusted POR with 95% CI: 2.3, 1.2-4.3) and in the second and third months of gestation (3.9, 1.1-13.8). Thus, maternal treatment of sulfamethoxydiazine may cause ventricular septal defect, while sulfathiourea may induce clubfoot; however, further studies are needed to verify or reject these associations.

  2. Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    NARCIS (Netherlands)

    Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Koehler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.; Arlt, Wiebke; Smith, M.J.

    2012-01-01

    Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.

  3. A rare cause of congenital adrenal hyperplasia : Antley-Bixler syndrome due to POR deficiency

    NARCIS (Netherlands)

    Herkert, J. C.; Blaauwwiekel, E. E.; Hoek, A.; Veenstra-Knol, H. E.; Kema, I. P.; Arlt, W.; Kerstens, M. N.

    Cytochrome P(450) oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those

  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. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series.

    Science.gov (United States)

    Niwa, Tetsu; de Vries, Linda S; Manten, Gwendolyn T R; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko

    2016-04-01

    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often accompanied with malformations of cortical development (MCD). We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and MCD: two infants with nodular interhemispheric lipoma, agenesis of the corpus callosum, and polymicrogyria, and one infant with interhemispheric curvilinear lipoma, hypoplasia of the corpus callosum, and heterotopias. An association was suggested regarding the occurrence of these malformations.

  7. Multiple de novo vascular malformations in relation to diffuse venous occlusive disease: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Desal, H.A. [Hopital Laennec, University of Nantes, Department of Neuroradiology, Nantes (France); Toronto Western Hospital, Department of Medical Imaging, University Health Network, Toronto, Ont. (Canada); Lee, S.K.; Kim, B.S.; TerBrugge, K.G. [Toronto Western Hospital, Department of Medical Imaging, University Health Network, Toronto, Ont. (Canada); Raoul, S.; Tymianski, M. [Toronto Western Hospital, Department of Neurosurgery, University Health Network, Toronto, Ont. (Canada)

    2005-01-01

    Brain vascular malformations are dynamic disorders. Although mostly considered to be of congenital origin, the improvement of clinical imaging and vasculogenesis knowledge has shown that they might also result from a biological dysfunction of the remodeling process after birth. Venous occlusive disease and ishemia may represent powerful revealing triggers and support the capillary venous origin of some vascular malformations. We report a unique case of the development of multiple de novo vascular malformations (transverse sinus dural fistula and posterior fossa cavernomas) following acoustic neuroma surgery. (orig.)

  8. High anorectal malformation in a five-month-old boy: a case report

    Directory of Open Access Journals (Sweden)

    Pandey Anand

    2010-08-01

    Full Text Available Abstract Introduction Anorectal malformation, one of the most common congenital defects, may present with a wide spectrum of defects. Almost all male patients present within first few days of life. Case presentation A five-month-old baby boy of Indian origin and nationality presented with anal atresia and associated rectourethral prostatic fistula. The anatomy of the malformation and our patient's good condition permitted a primary definitive repair of the anomaly. A brief review of the relevant literature is included. Conclusion Delayed presentation of a patient with high anorectal malformation is rare. The appropriate treatment can be rewarding.

  9. Familial Chiari malformation: case series.

    Science.gov (United States)

    Schanker, Benjamin D; Walcott, Brian P; Nahed, Brian V; Kahle, Kristopher T; Li, Yan Michael; Coumans, Jean-Valery C E

    2011-09-01

    Chiari malformations (Types I-IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%-0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.

  10. 新生儿先天性畸形伴染色体异常56例分析%Analysis of 56 congenital malformed neonates with Chromosomal abnormal

    Institute of Scientific and Technical Information of China (English)

    李卓园; 李勇

    2011-01-01

    目的 研究新生儿先天性畸形的临床与染色体异常核型特征,为提高产前诊断提供依据.方法 采用常规外周血培养及制备染色体,G显带核型分析.结果 56例先天性畸形中,染色体异常以21-三体最为多见(40例占71.43%),其次有18-三体及13-三体,同时还发现一些罕见的染色体异常.临床上,常以特殊面容表现最为突出.同时先心、唇腭裂等较严重畸形在三体型中较为常见.结论 染色体异常所致胎儿特殊异常表现,重点心血管,唇腭裂检查是提高产前诊断检出染色体异常的重要依据.%Objective: To investigate the clinical manifestations of neonates and characteristics of its chromosomal abnormal so as to supply reference for prenatal diagnosis. Methods: Chromosome preparations were made from peripheral blood lymphocytes. Karyotypes were analyzed by G - banding technique. Results: Among 56 cases, 40 cases were found having trisomy 21 ( 71.43% ), others were trisomy 18, trisomy 13 and infrequent chromosomal abnormal. The patients mainly presented unusual appearance, congenital heart disease and cheilopalatognathus. Conclusion: Examination of cardiovascular diagnosis and cheilopalatognathus can enhance prenatal diagnosis for Chromosomal abnormal.

  11. Nursing care of congenital microtia malformation two stage auricular reconstruction%先天性小耳畸形二期法耳廓再造术的护理

    Institute of Scientific and Technical Information of China (English)

    林美华; 王维; 王彪

    2015-01-01

    Objective To summarize the nursing experience of two-stage operation of auricular reconstruction in congenital microtia. Methods 103 cases of two-stage auricular reconstruction of microtia patientswith the assessment and care of the preoperative psychological status ,skin preparation and posture training.the postoperative observation and nursing of negative pressure drainage and local flap situations,the reconstructed ear and the rib cartilage donor. Results The surgical results were satisfactory to the patients and the irfa milies whose reconstructed ear had verisimilar shape. Conclusion The auricle reconstruction surgery is difficult.In addition to good prognosis is related with the technology level of the doctors,and the high quality nursing before and after operation,the coordination of the patients and their families have a close relationship.%目的:总结先天性小耳畸形二期法耳廓再造术的护理体会。方法:对103例行二期法耳廓再造术的小耳患者实施术前心理状况评估与护理,皮肤准备及体位训练等,术后做好负压引流及皮瓣的观察与护理,再造耳和肋软骨供区的局部护理。结果:再造耳解剖结构清晰,形态逼真,患者及家属对治疗效果满意。结论:耳廓再造手术难度大,良好的预后效果除与医生技术水平有关外,还与手术前后优质护理、患者及家属的高度配合密切相关。

  12. [Relationship between congenital heart disease and bronchial dysplasia].

    Science.gov (United States)

    Zeng, Shuang-Lin; Li, Ya-Jun; Huang, Ting; Tan, Li-Hua; Mei, Xi-Long; Sun, Jian-Ning

    2011-11-01

    To study the relationship of the incidence of bronchial dysplasia (bronchial anomalous origin and bronchial stenosis) with congenital heart disease. A total of 185 children with congenital heart disease or bronchial dysplasia were enrolled. Bronchial dysplasia was identified by the 64-MSCT conventional scanning or thin slice scanning with three-dimensional reconstruction. Forty-five children (25.3%) had coexisting bronchial dysplasia and congenital heart disease. The incidence rate of bronchial dysplasia in children with congenital heart disease associated with ventricular septal defect was higher than in those without ventricular septal defect (33.7% vs 15.0%; Pdysplasia between the children with congenital heart disease who had a large vascular malformation and who did not. Bronchial dysplasia often occurs in children with congenital heart disease. It is necessary to perform a tracheobronchial CT scanning with three-dimensional reconstruction to identify tracheobronchial dysplasia in children with congenital heart disease, especially associated with ventricular septal defect.

  13. Maternal use of antiepileptic drugs and the risk of major congenital malformations: a joint European prospective study of human teratogenesis associated with maternal epilepsy.

    NARCIS (Netherlands)

    E.B. Samren (Bettina); C.M. van Duijn (Cock); S. Koch; V.K. Hiilesma; H. Klepel; A.H. Bardy; B. Mannegetta; A.W. Deichl; E. Gaily; M.L. Granstrom; H. Meinardi; D.E. Grobbee (Diederick); D. Lindhout (Dick); A. Hofman (Albert)

    1997-01-01

    textabstractPURPOSE: To quantify the risks of intrauterine antiepileptic drug (AED) exposure in monotherapy and polytherapy. METHODS: Data from five prospective European studies totaling 1,379 children were pooled and reanalyzed. Data were available for 1,221 children exposed to AED during pregnancy

  14. 内耳不完全分隔Ⅱ型畸形并自发性脑脊液耳漏的 CT、MRI 诊断价值%CT and MRI diagnostic value of the congenital inner ear malformation incomplete partition type Ⅱdeformity combined with spontaneous CSF otorrhea

    Institute of Scientific and Technical Information of China (English)

    董燕; 董季平; 杨军乐; 杨想春; 党珊; 刘润

    2015-01-01

    目的:探讨先天性内耳不完全分隔Ⅱ型畸形(Mondini 畸形)并脑脊液耳漏的高分辨 CT(HRCT)及 MRI 诊断价值。方法回顾性分析本院3例先天性内耳不完全分隔Ⅱ型畸形合并脑脊液耳漏,同时并发反复发作脑膜炎患者的影像学资料,包括HRCT 多平面重组(MPR)、曲面重组(CPR)图像及 MR 内耳水成像图像,观察病变侧内、中耳各解剖结构的形态,总结分析本病的临床及影像学特征。结果1例患者双侧发病,伴半规管发育不全,蜗水管扩大。2例患者为单侧发病,其中1例合并同侧面神经管发育不良。3例患者均有镫骨底板菲薄,内听道底缺损。结论内耳不完全分隔Ⅱ型畸形合并脑脊液耳漏,并发脑膜炎时, HRCT 及后处理、MR 检查可显示内耳、中耳精细的解剖结构,并清晰显示瘘口情况,对该病的诊断具有重要价值。%Objective To discuss the diagnostic value of high resolution computed tomography (HRCT)and MRI in the congenital inner ear malformation incomplete partition type Ⅱ deformity(Mondini deformity)combined with spontaneous cerebrospinal fluid (CSF)otorrhea.Methods The imaging data including the multiplanar reformation(MPR)images of HRCT,curved planar reforma-tion(CPR)images and MR hydrography images in three patients complicated with recurrent meningitis were retrospectively ana-lyzed.The anatomic changes of the inner ear and middle ear on the affected side were observed,the clinical and imaging features of this disease were summarized.Results One patient had bilateral incidence of the incompletely separated inner ear,combined with semicircular canal dysplasia and cochlear pipe dilation.Two patients had unilateral onset,one of them had concurrent facial nerve ca-nal dysplasia.Humble stapes floor and the defect of the bottom of the internal auditory canal were seen in all the three patients.Con-clusion HRCT with post-processing technology,and MRI have great

  15. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  16. Microtia and congenital aural atresia.

    Science.gov (United States)

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  17. 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...

  18. 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...

  19. 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

  20. 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.

  1. 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.

  2. 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.

  3. [Genetics of congenital deafness].

    Science.gov (United States)

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  4. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series

    NARCIS (Netherlands)

    Niwa, Tetsu; de Vries, Linda S.; Manten, GTR; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko

    2016-01-01

    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often acco

  5. Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child?

    NARCIS (Netherlands)

    Kroes, HY; Reefhuis, J; Cornel, MC

    2002-01-01

    Purpose: To check for an association between carbamazepme (CBZ) use by the mother during pregnancy and congenital eye malformations (i.e., anophthalmia, microphthalmia, and coloboma) in the child, as suggested by Sutcliffe et al. (1998), who reported four cases. Methods: We checked all the cases wit

  6. 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

  7. 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

  8. 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.

  9. Microencephaly in children congenitally