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Sample records for complex congenital anomalies

  1. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

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

  2. Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly

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    Arshad Bhat, MBBS, DMRD

    2016-06-01

    Full Text Available Three case reports of a rare congenital anomaly “limb-body wall complex” also known as “body stalk syndrome” are presented with prenatal ultrasonographic diagnostic features, immediate after delivery evaluation, and histopathologic analysis.

  3. Radiologic analysis of congenital limb anomalies

    International Nuclear Information System (INIS)

    Chung, Hong Jun; Kim, Ok Hwa; Shinn, Kyung Sub; Kim, Nam Ae

    1994-01-01

    Congenital limb anomalies are manifested in various degree of severity and complexity bearing conclusion for description and nomenclature of each anomaly. We retrospectively analyzed the roentgenograms of congenital limb anomalies for the purpose of further understanding of the radiologic manifestations based on the embryonal defect and also to find the incidence of each anomaly. Total number of the patients was 89 with 137 anomalies. Recently the uniform system of classification for congenital anomalies of the upper limb was adopted by International Federation of Societies for Surgery of the Hand (IFSSH), which were categorized as 7 classifications. We used the IFSSH classification with some modification as 5 classifications; failure of formation of parts, failure of differentiation of parts, duplications, overgrowth and undergrowth. The patients with upper limb anomalies were 65 out of 89(73%), lower limb were 21(24%), and both upper and lower limb anomalies were 3(4%). Failure of formation was seen in 18%, failure of differentiation 39%, duplications 39%, overgrowth 8%, and undergrowth in 12%. Thirty-five patients had more than one anomaly, and 14 patients had intergroup anomalies. The upper limb anomalies were more common than lower limb. Among the anomalies, failure of differentiation and duplications were the most common types of congenital limb anomalies. Patients with failure of formation, failure of differentiation, and undergrowth had intergroup association of anomalies, but duplication and overgrowth tended to be isolated anomalies

  4. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    has increased dramatically since 2000. This was due to the beginning of activities of medicogenetic service since 1998: the legal framework and information database were created, the flow of pregnant women was formed actively, and invasive prenatal diagnosis was introduced.Incidence of congenital anomalies has a reliable statistical association (chi-square) with bioclimatic zones and ecological situation. The high level of pathology is observed in both teenagers and children in the critical environmental situation areas, where there are enterprises of coal, mining and chemical industry, ship repair, construction, engineering sites, and areas with intensive chemical use and improvement of agriculture. For the most part these are cities and districts of the region where more than a half of the major manufacturing plants of the 1st and 2nd hazard classes are located. Exceeding the maximum allowable concentrations (MAC) of harmful substances in the air, soil, and water in these areas often reaches tenfold. It should be noted that in the territories with the critical environmental situation a relatively high level of malformations is observed in adolescents in the continental bioclimatic zone, and in children - on the coast, suggesting the influence of different climatic factors. Also a high level of the same congenital anomalies was revealed in children in bioclimatic zones of the coast and transition zones with the intense environmental situation.According to the results of the regression analysis, the varying degrees of influence of ecological and hygienic factors on the incidence of congenital anomalies were determined. In children, up to 77.3% of the spread of pathology depends on the complex of parameters of the environment; the proportion of the influence of sanitary and hygienic indicators is 63.1%, and natural and climatic indicators - 14.2%. Such factors as the characteristics of the soil condition, the level of air pollution, chemical pollution and adverse

  5. Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

    Science.gov (United States)

    Cohen, J; Schanen, N C

    2000-01-01

    The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

  6. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomali...

  7. Cor triatriatum dexter, a very rare congenital anomaly presented in a complex pathological context – case presentation

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    Gozar Liliana

    2014-08-01

    Full Text Available Background Cor triatriatum dexter is an extremely rare congenital anomaly, and in most cases, without hemodynamic significance. Congenital cytomegalovirus infection is the most common viral infection, the majority of infected infants being asymptomatic and only 5-15% being symptomatic in the neonatal period.

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

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    Hoogeboom A Jeannette M

    2010-07-01

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

  9. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

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

    2014-01-01

    INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995...... mortality decreased significantly over time for cases with major congenital anomalies (p congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

  10. Congenital anomalies of the male urethra

    International Nuclear Information System (INIS)

    Levin, Terry L.; Han, Bokyung; Little, Brent P.

    2007-01-01

    The spectrum of congenital anomalies of the male urethra is presented. The embryologic basis of each anomaly, when known, is discussed. Clinical and imaging features of each entity are presented. (orig.)

  11. Corpuscular radiation and congenital anomalies

    International Nuclear Information System (INIS)

    Sato, Shinji; Yajima, Akira

    1983-01-01

    Many explorations have been done by our antecessors to find out about the congenital anomalies which might be caused by X-ray or γ-ray and experimental teratological researches have also been done, with some results. However, there have been less systematic studies on corpuscular radiation. Neutron ray is a radioactive ray no electrically-charged equally as photon (X-ray, γ-ray). With an equal dosage of it as photon's, its localized energy is high so that it is different in RBE, OER, etc. In heavy charged particle (proton ray, He ion, Ne ion, π-meson ray), there is the characteristic that the energy increases at around the deepest spot within the range rather than at the point of injection into a system, which is called Bragg peak. The type and energy of this radiation reflected in the uniqueness in energy distribution, in ionization density and in LET makes it the most important radioactive biological parameter. At this paper, we shall review the types of radioactive rays and discuss the congenital anomalies (teratogenecity) including the experimental results obtained by application of our proton ray. (author)

  12. Retrograde Intrarenal Surgery for Complex Stones in a Toddler with Congenital Renal Anomalies: Technical Details

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    Murat Can Kiremit

    2015-07-01

    Full Text Available We report herein the management of a challenging case due to anatomic and stone-related complications in a 37-month-old Caucasian toddler with megacalycosis and complex stone in the left kidney and duplicated ureter on the right side.

  13. Renal anomalies in congenital heart disease

    International Nuclear Information System (INIS)

    Lee, Byung Hee; Kim, In One; Yeon, Kyung Mo; Yoon, Yong Soo

    1987-01-01

    In general, the incidence of urinary tract anomalies in congenital heart disease is higher than that in general population. So authors performed abdominal cineradiography in 1045 infants and children undergoing cineangiographic examinations for congenital heart disease, as a screening method for the detection, the incidence, and the nature of associated urinary tract anomalies. The results were as follows: 1. The incidence of urinary tract anomaly associated with congenital heart disease was 4.1% (<2% in general population). 2. Incidence of urinary tract anomalies was 4.62% in 671 acyanotic heart diseases, 3.20% in 374 cyanotic heart diseases. 3. There was no constant relationship between the type of cardiac anomaly and the type of urinary tract anomaly

  14. Genetically caused congenital anomalies of reproductive system

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    L. F. Kurilo

    2013-01-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  15. Congenital anomalies of the neonatal head

    International Nuclear Information System (INIS)

    Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

    1987-01-01

    US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

  16. Congenital anomalies and normal skeletal variants

    International Nuclear Information System (INIS)

    Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

    1987-01-01

    Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

  17. Congenital anomalies of the spine: radiologic findings

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    Ryu, Jung Kyu; Kim, Sang Won; Ryu, Kyung Nam [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

    2003-04-01

    Congenital anomalies of the spine are frequent and variable. Some are restricted to skeletal structures, while others involve combine neural tube defects or are associated with other multi-systemic disorders. Structural spinal anomalies can be classified according to their location: 1) the vertebral body, 2) the articular process, 3) the lamina with spinous process, 4) the pars interarticularis, 5) the facet joint, 6) the pedicle, or 7) other. Because of similarities between these congenital anomalies and (a) secondary changes involving infection or joint disease and (b) deformities resulting from trauma and uncertain tumorous conditions, significant confusion can occur during diagnosis. Moreover, since the anomalies often give rise to both functional impairment and cosmetic problem, appropriate treatment relies crucially on accurate diagnosis. The authors illustrate the pathogenesis and radiologic findings of the relatively common spinal anomalies confined to skeletal structures.

  18. Hypospadiac Duplication of Anterior Urethra-a Rare Congenital Anomaly.

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    Goyal, Bhawana; Gupta, Suresh; Goyal, Parag

    2017-02-01

    Duplication of the urethra is a complex and rarely seen congenital anomaly with three anatomic variants: epispadiac (dorsal), hypospadiac (ventral), and Y-type. We report here a case of hypospadiac duplication of anterior urethra with dorsal blind ending urethra in a 9-year-old boy who presented with complaint of passing urine from the ventral aspect of penis.

  19. Congenital spine anomalies: the closed spinal dysraphisms

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    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.)

  20. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  1. Congenital Duplex Gallbladder Anomaly Presenting as Gangrenous ...

    African Journals Online (AJOL)

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    A 43 year old female patient, Mrs. M.S, presented with a three week history of .... they develop gangrenous calculus cholecystitis as they may simulate a liver abscess ... Congenital anomalies of the gallbladder and anatomical variations of their ...

  2. Drug safety in pregnancy - monitoring congenital anomalies

    NARCIS (Netherlands)

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

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

  3. Seasonality of Congenital Anomalies in Europe

    NARCIS (Netherlands)

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

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

  4. Helical CT of congenital ossicular anomalies

    International Nuclear Information System (INIS)

    Osada, Hisato; Machida, Kikuo; Honda, Norinari

    2001-01-01

    Since January 1996 to December 2000, 26 cases of congenital ossicular anomaly could be diagnosed with helical CT. All cases were unilateral. In 8 patients with malformation of the external ear, CT showed malleoincudal fixation (n=5), malleoincudal fixation and deformed incuts long process (n=1), deformed incus long process (n=1), and partial fusion of malleus neck and incus long process (n=1). In 18 patients with normal external ear, CT showed defect of the incus long process (n=5), defect of both the incus long process and stapes superstructure (n=8, 2 patients with congenital cholesteatoma, 1 with hypoplastic oval window), defect of the stapes superstructure (n=2, 1 patient with oval window absence), defect of the malleus manubrium (n=1), ossification of the stampede's tendon (n=1), and monopod stapes (n=1). Helical CT can evaluate the auditory ossicular chain in detail and is useful for diagnosing congenital ossicular anomaly. (author)

  5. MR imaging evaluation of congenital spine anomalies

    International Nuclear Information System (INIS)

    Bury, E.A.; Zimmerman, R.A.; Grossman, R.I.; Goldberg, H.I.; Bilaniuk, L.T.; Hackney, D.B.

    1987-01-01

    Over a 2-year period, 135 patients between the ages of 1 week and 18 years were examined with MR imaging for possible congenital anomalies of the spine and spinal cord. Tethered cords with various other associated pathologies such as lipomas and myelomeningoceles were found in 36 patients. The remaining abnormal examinations consisted of syrinxes, Chiari malformations, diastematomyelia, and conus masses. In 55 patients the studies were interpreted as normal. Of these, three were subsequently shown by surgery of myelography to be abnormal. The first had a thickened filum with a small epidermoid, the second a thickened filum, and the third, with only sagittal images, a diastematomyelia. Children presenting with symptoms highly suspicious for congenital abnormalities but with a normal MR study in multiple planes may still require further evaluation with myelography. Multiplanar MR examination in most instances will be a sufficient evaluation for congenital anomalies

  6. Congenital hand anomalies in Upper Egypt

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    Tarek Abulezz

    2016-01-01

    Full Text Available Background: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient's life. Patients and Methods: This is a follow-up study of 64 patients with hand anomalies of variable severity. All patients were presented to Plastic Surgery Department of Sohag University Hospital in a period of 24 months. Results: This study revealed that failure of differentiation and duplication deformities were the most frequent, with polydactyly was the most common anomaly encountered. The mean age of presentation was 6 years and female to male ratio was 1.46:1. Hand anomalies were either isolated, associated with other anomalies or part of a syndrome. Conclusion: Incidence of congenital hand anomalies in Upper Egypt is difficult to be estimated due to social and cultural concepts, lack of education, poor registration and deficient medical survey. Management of hand anomalies should be individualised, carefully planned and started as early as possible to achieve the best outcome.

  7. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen

    2012-01-01

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

  8. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    NARCIS (Netherlands)

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

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

  9. Congenital anomalies and proximity to landfill sites.

    LENUS (Irish Health Repository)

    Boyle, E

    2004-01-01

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

  10. CT diagnosis of congenital anomalies of the central nervous system

    International Nuclear Information System (INIS)

    Mori, Koreaki

    1980-01-01

    In the diagnosis of central nervous system congenital anomalies, understanding of embryology of the central nervous system and pathophysiology of each anomaly are essential. It is important for clinical approach to central nervous system congenital anomalies to evaluate the size of the head and tention of the anterior fontanelle. Accurate diagnosis of congenital anomalies depends on a correlation of CT findings to clinical pictures. Clinical diagnosis of congenital anomalies should include prediction of treatability and prognosis, in addition to recognition of a disease. (author)

  11. Chromosomal study in newborn infants with congenital anomalies in ...

    African Journals Online (AJOL)

    Congenital anomalies were found in 103 cases with a prevalence of 2.06% with male to female ratio of 1.7:1. Skeletal system anomalies had the highestfrequency (37.9%), followed in descending order by chromosomal abnormalities (27.2%), circulatory system anomalies (22.3%), central nervous system (CNS) anomalies ...

  12. Maternal life event stress and congenital anomalies.

    Science.gov (United States)

    Carmichael, S L; Shaw, G M

    2000-01-01

    We used data from a population-based case-control study to explore the relation between certain life events during the periconceptional period and several types of congenital anomalies. We ascertained cases from pregnancies ending in 1987-1989 and randomly selected controls from eligible liveborn infants. In telephone interviews, women reported deaths of anyone close to them. They also reported job losses or separations/divorces, for themselves or anyone close to them. Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with conotruncal heart defects, neural tube defects, and isolated cleft lip with or without palate. These associations tended to be restricted to women who were not obese and women with less than or equal to a high school education. This study suggests that women who experience stressful life events around the time of conception or early gestation may be at increased risk of delivering infants with certain congenital anomalies.

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

    Science.gov (United States)

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

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

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

    NARCIS (Netherlands)

    Garne, Ester; Dolk, Helen; Loane, Maria; Boyd, Patricia A.

    2010-01-01

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

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

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Loane, Maria

    2010-01-01

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

  16. Horseshoe lung with multiple congenital anomalies

    International Nuclear Information System (INIS)

    Hawass, N.D.; Badawi, M.G.; Fatani, J.A.; Meshari, A.A.; Edrees, Y.B.

    1987-01-01

    A detailed radiologic and anatomic study of a 20-week old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed. (orig.)

  17. Congenital anomalies of the urinary tract.

    Science.gov (United States)

    Pohl, Hans G; Belman, A Barry

    2014-01-01

    The upper urinary tract forms as a consequence of the reciprocal inductive signals between the metanephric mesenchyme and ureteric bud. A clue to the timing of events leading to an abnormality of the upper urinary tract can be the presence also of associated anomalies of internal genitalia since separation of these systems occurs at about the 10th week of gestation. Prenatal sonography has facilitated the detection of urological abnormalities presenting with hydronephrosis. Hydronephrosis suggests obstruction, but by itself cannot be equated with it. Instead, further radiographic imaging is required to delineate anatomy and function. Now, moreover, non-surgical management of CAKUT should be considered whenever possible. Despite the widespread use of prenatal screening sonography that usually identifies the majority of congenital anomalies of the urinary tract, many children still present with febrile urinary tract infection (UTI). Regardless of the etiology for the presentation, the goal of management is preservation of renal function through mitigation of the risk for recurrent UTI and/or obstruction. In the past many children underwent surgical repair aimed at normalization of the appearance of the urinary tract. Today, management has evolved such that in most cases surgical reconstruction is performed only after a period of observation - with or without urinary prophylaxis. The opinions presented in this section are not espoused by all pediatric urologists but represent instead the practice that has evolved at Children's National Medical Center (Washington DC) based significantly on information obtained by nuclear renography, in addition to sonography and contrast cystography.

  18. Congenital anomalies of the limbs in mythology and antiquity.

    Science.gov (United States)

    Mavrogenis, Andreas F; Markatos, Konstantinos; Nikolaou, Vasilios; Gartziou-Tatti, Ariadne; Soucacos, Panayotis N

    2018-04-01

    Congenital anomalies of the limbs have been observed since ancient human civilizations, capturing the imagination of ancient physicians and people. The knowledge of the era could not possibly theorize on the biologic aspects of these anomalies; however, from the very beginning of civilization the spiritual status of people attempted to find a logical explanation for the existence of such cases. The next logical step of the spiritual and religious system of the ancients was to correlate these anomalies with the Gods and to attribute them to a different level of existence in order to rationalize their existence. In these settings, the mythology and religious beliefs of ancient civilizations comprised several creatures that were related to the observed congenital anomalies in humans. The purpose of this historic review is to summarize the depiction of congenital anomalies of the limbs in mythology and antiquity, to present several mythological creatures with resemblance to humans with congenital anomalies of the limbs, to present the atmosphere of the era concerning the congenital anomalies, and to theorize on the anomaly and medical explanation upon which such creatures were depicted. Our aim is to put historic information in one place, creating a comprehensive review that the curious reader would find interesting and enjoyable.

  19. FastStats: Birth Defects or Congenital Anomalies

    Science.gov (United States)

    ... this? Submit What's this? Submit Button NCHS Home Birth Defects or Congenital Anomalies Recommend on Facebook Tweet ... 4,825 Infant deaths per 100,000 live births: 121.3 Cause of infant death rank: 1 ...

  20. Insulin analogues in pregnancy and specific congenital anomalies

    DEFF Research Database (Denmark)

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

    2016-01-01

    Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant...... women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....

  1. Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

    Directory of Open Access Journals (Sweden)

    Maria Arafah

    2011-01-01

    Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

  2. Midline cervical cleft: a rare congenital anomaly.

    Science.gov (United States)

    Renukaswamy, Gayathri Mandya; Soma, Marlene A; Hartley, Benjamin E J

    2009-11-01

    A midline cervical cleft (MCC) is a rare congenital anomaly due to failure of fusion of the first and second branchial arches during embryogenesis. It may present as a midline defect of the anterior neck skin with a skin projection or sinus, or as a subcutaneous fibrous cord. This report evaluates the clinical features and surgical management of an MCC. We analyzed a series of 4 patients with an MCC successfully treated at Great Ormond Street Hospital for Children in London. Three male patients and 1 female patient between 4 and 11 months of age were found to have an MCC. Each patient presented with an erythematous, fibrous band of tissue extending between the chin and the suprasternal notch. Treatment comprised surgical excision of the lesion and Z-plasty repair. We present the embryology, common clinical presentation, investigations, differential diagnosis, and histology, along with a literature review, of this uncommon malformation of the anterior neck. An MCC is a differential diagnosis to consider when assessing a child with a midline cervical lesion. Early surgical excision with Z-plasty repair of the soft tissue defect is the treatment of choice to prevent long-term complications.

  3. Estimating Global Burden of Disease due to congenital anomaly

    DEFF Research Database (Denmark)

    Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz

    2018-01-01

    OBJECTIVE: To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal...... the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention....

  4. Arsenic in drinking water and congenital heart anomalies in Hungary.

    Science.gov (United States)

    Rudnai, Tamás; Sándor, János; Kádár, Mihály; Borsányi, Mátyás; Béres, Judit; Métneki, Júlia; Maráczi, Gabriella; Rudnai, Péter

    2014-11-01

    Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n=9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n=5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 μg/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 μg/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR=1.41; 95% C.I.: 1.28-1.56), and especially that of ductus Botalli persistens (adjusted OR=1.81, 95%C.I.: 1.54-2.11) and atrial septal defect (adjusted OR=1.79; 95%C.I.: 1.59-2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 μg/L during pregnancy. Further studies of possible similar effects of concentrations below 10 μg/L are warranted. Copyright © 2014 Elsevier GmbH. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Pavai Arunachalam

    2009-01-01

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

  6. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  7. Congenital anomalies in infants conceived by assisted reproductive techniques.

    Science.gov (United States)

    Mozafari Kermani, Ramin; Nedaeifard, Leila; Nateghi, Mohammad Reza; Shahzadeh Fazeli, Abolhassan; Ahmadi, Ebrahim; Osia, Mohammad Ali; Jafarzadehpour, Ebrahim; Nouri, Soudabeh

    2012-04-01

    Many studies show that congenital defects in infants conceived by assisted reproductive techniques (ART) are more than infants of normal conception (NC). The aim of this study is to determine the frequency of congenital anomalies in ART infants from Royan Institute and to compare congenital anomalies between two ART techniques.  In a cross-sectional descriptive study, 400 ART infants from Royan Institute who resided in Tehran were selected by non-random, consecutive sampling. Infants were examined twice (until 9 months of age) by a pediatrician. Infants' congenital anomalies were described by each body system or organ and type of ART. Data were analyzed by SPSS version 16 and Fisher's exact test. The frequency of different organ involvement in the two examinations were: 40 (10%) skin, 25 (6.2%) urogenital system, 21 (5.2%) gastrointestinal tract, 13 (3.2%) visual, and 8 (2%) cardiovascular system. Major congenital defects in infants conceived by in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) were hypospadiasis, inguinal hernia, patent ductus arteriosus plus ventricular septal defect (PDA + VSD), developmental dysplasia of the hip, lacrimal duct stenosis during the first year of life, hydronephrosis and urinary reflux over grade III, undescending testis, ureteropelvic junction stenosis, and torticoli. Two-thirds of ART infants had no defects. A total of 7% of IVF and ICSI infants had one of the major abovementioned congenital anomalies. This rate was higher than NC infants (2%-3%). There was no difference between the ICSI and IVF group.

  8. Interventional treatment of common congenital heart diseases: the common view of Chinese medical experts. Part Five-transcatheter intervention for the treatment of compound congenital cardiac anomalies

    International Nuclear Information System (INIS)

    Committee on Congenital Heart Diseases, Internal Medicine Branch of Cadiovascular Diseases of China Physicians' Association

    2011-01-01

    Compound congenital cardiac anomalies refer to two or more congenital cardiovascular defects coexisting in the same patient. Transcatheter intervention for compound congenital cardiac anomalies has got satisfactory results in recent years. However, the percutaneous closure procedure used for compound congenital cardiac defects does not mean the simple addition of single interventional technique. Clinically, it needs more specialist expertise to deal with such complex defects. This chapter will briefly describe the pathophysiology and clinical features of the following compound congenital cardiac anomalies: the ventricular septal defect (VSD) with coexistence of atrial septal defect (ASD), patent ductus arteriosus (PDA) or pulmonary valve stenosis (PS), the ASD coexistence of PDA, PS or mitral stenosis (Lutembacher's syndrome), and coarctation of aorta compound with PDA. The indications and contraindications, the therapeutic principles, the matters needing attention, the postoperative management, the judgment of curative effect, etc. of using transcatheter for the treatment of such compound anomalies will also be discussed. (authors)

  9. Interventional treatment of common congenital heart diseases: the common view of Chinese medical experts. Part Five-transcatheter intervention for the treatment of compound congenital cardiac anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Committee on Congenital Heart Diseases, Internal Medicine Branch of Cadiovascular Diseases of China Physicians' Association

    2011-05-15

    Compound congenital cardiac anomalies refer to two or more congenital cardiovascular defects coexisting in the same patient. Transcatheter intervention for compound congenital cardiac anomalies has got satisfactory results in recent years. However, the percutaneous closure procedure used for compound congenital cardiac defects does not mean the simple addition of single interventional technique. Clinically, it needs more specialist expertise to deal with such complex defects. This chapter will briefly describe the pathophysiology and clinical features of the following compound congenital cardiac anomalies: the ventricular septal defect (VSD) with coexistence of atrial septal defect (ASD), patent ductus arteriosus (PDA) or pulmonary valve stenosis (PS), the ASD coexistence of PDA, PS or mitral stenosis (Lutembacher's syndrome), and coarctation of aorta compound with PDA. The indications and contraindications, the therapeutic principles, the matters needing attention, the postoperative management, the judgment of curative effect, etc. of using transcatheter for the treatment of such compound anomalies will also be discussed. (authors)

  10. Imaging of congenital anomalies of the temporal bone.

    Science.gov (United States)

    Benton, C; Bellet, P S

    2000-02-01

    This article briefly presents the embryology of the ear and discusses the external auditory canal and middle ear, including first branchial cleft anomalies, external auditory canal atresia and stenoses, congenital cholesteatoma, and congenital teratoma. Topics related to the labyrinths include aplasia, the common-chamber anomaly, the pseudo-Mondini and Mondini malformations, semicircular canal dysplasia, and the large vestibular aqueduct. Vascular malformations and variations also are presented, including the absent and aberrant internal carotid artery, the persistent stapedial artery, and high jugular bulb; cerebrospinal fluid and perilymph fistulas are the subjects of the final section.

  11. Stillbirth and congenital anomalies in migrants in Europe

    DEFF Research Database (Denmark)

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

    2016-01-01

    The risk of giving birth to a stillborn child or a child with severe congenital anomaly is higher for women who have immigrated to Europe as compared to the majority population in the receiving country. The literature, however, reveals great differences between migrant groups, even within migrants...... disparity is a result of the socioeconomic disadvantage most migrants face. Consanguinity has been considered as another cause for the increased stillbirth risk and the high risk of congenital anomaly observed in many migrant groups. Utilization and quality of care during pregnancy and childbirth...

  12. Trends in congenital anomalies in Europe from 1980 to 2012

    DEFF Research Database (Denmark)

    Morris, Joan K.; Springett, Anna L.; Greenlees, Ruth

    2018-01-01

    and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid...... of pregnancy for fetal anomaly were analysed with multilevel random- effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects...

  13. 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...... for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize...

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

    DEFF Research Database (Denmark)

    Boyle, B; McConkey, R; Garne, E

    2013-01-01

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

  15. Congenital anomalies in black South African liveborn neonates at ...

    African Journals Online (AJOL)

    hypospadias the commonest urogenital anomalies (Table VI). The incidence of cleft lip/palate was only 0,23 per 1 000. Iivebirths (Table V). The integumentary conditions seen included congenital ichthyosis, epidermolysis bullosa, both disorders of. Mendelian inheritance, an unclassifiable bullous dermatitis and a naevus.

  16. The incidence of apparent congenital urogenital anomalies in North ...

    African Journals Online (AJOL)

    A. Bhat

    2016-07-18

    Jul 18, 2016 ... borns' birth weight and gestational age, the maternal age, parity and infertility treatment, ... has shown birth prevalence of congenital anomalies to vary sig- ... leading cause of fetal death, as well as of childhood and adult mor- ... Neonates ... dent factors predictive of reproductive disorders, with a p value.

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

    DEFF Research Database (Denmark)

    Loane, Maria; Dolk, Helen; Garne, Ester

    2011-01-01

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

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

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

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

  19. Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging

    OpenAIRE

    Trenga, Anthony P.; Singla, Anuj; Feger, Mark A.; Abel, Mark F.

    2016-01-01

    Purpose Congenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases. Methods All patients aged ?13 years (n?=?75) presenting to the pediatric spine clinic from 2003?2013 with congenital bony spinal deformity and both radiograph...

  20. Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

    Science.gov (United States)

    Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

    2013-01-01

    Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

  1. MR imaging features of the congenital uterine anomalies

    International Nuclear Information System (INIS)

    Hamcan, S.; Akgun, V.; Battal, B.; Kocaoglu, M.

    2012-01-01

    Full text: Introduction: Congenital uterine anomalies are common and usually asymptomatic. The agenesis, malfusion or deficient resorption of the Mullerian canals during embryogenesis may lead to these anomalies. Although ultrasonography (US) is the first step imaging technique in assessment of the uterine pathologies, it can be insufficient in differentiation of them. Magnetic resonance (MR) imaging is an adequate imaging technique in depicting pelvic anatomy and different types of uterine anomalies. Objectives and tasks: In this article, we aimed to present imaging features of the uterine anomalies. Material and methods: Pelvic MR scans of the cases who were referred to our radiology department for suspicious uterine anomaly were evaluated retrospectively. Results: We determined uniconuate uterus (type II), uterus didelphys (type III), bicornuate uterus (type IV), uterine septum (type V) and arcuate uterus (type VI) anomalies according to ASRM (American Society of Reproductive Medicine) classification. Conclusion: In cases with such pathologies leading to obstruction, dysmenorrhea or palpable pelvic mass in the puberty are the main clinical presentations. In cases without obstruction, infertility or multiple abortions can be encountered in reproductive ages. The identification of the subtype of the uterine anomalies is important for the preoperative planning of the management. MR that has multiplanar imaging capability and high soft tissue resolution is a non-invasive and the most important imaging modality for the detection and classification of the uterine anomalies

  2. Congenital renal anomalies in cloacal exstrophy: Is there a difference?

    Science.gov (United States)

    Suson, K D; Inouye, B; Carl, A; Gearhart, J P

    2016-08-01

    Cloacal exstrophy (CE) is the most severe manifestation of the epispadias-exstrophy spectrum. Previous studies have indicated an increased rate of renal anomalies in children with classic bladder exstrophy (CBE). Given the increased severity of the CE defect, it was hypothesized that there would be an even greater incidence among these children. The primary objective was to characterize renal anatomy in CE patients. Two secondary objectives were to compare these renal anatomic findings in male and female patients, and female patients with and without Müllerian anomalies. An Institutional Review Board-approved retrospective review of 75 patients from an institutional exstrophy database. Data points included: age at analysis, sex, and renal and Müllerian anatomy. Abnormal renal anatomy was defined as a solitary kidney, malrotation, renal ectopia, congenital cysts, duplication, and/or proven obstruction. Abnormal Müllerian anatomy was defined as uterine or vaginal duplication, obstruction, and/or absence. The Summary Table presents demographic data and renal anomalies. Males were more likely to have renal anomalies. Müllerian anomalies were present in 65.7% of female patients. Girls with abnormal Müllerian anatomy were 10 times more likely to have renal anomalies than those with normal Müllerian anatomy (95% CI 1.1-91.4, P = 0.027). Patients with CE had a much higher rate of renal anomalies than that reported for CBE. Males and females with Müllerian anomalies were at greater risk than females with normal uterine structures. Mesonephric and Müllerian duct interaction is required for uterine structures to develop normally. It has been proposed that women with both Müllerian and renal anomalies be classified separately from other uterine malformations on an embryonic basis. In these patients, an absent or dysfunctional mesonephric duct has been implicated as potentially causal. This provided an embryonic explanation for uterine anomalies in female CE patients

  3. Partial duplication of head--a rare congenital anomaly.

    Science.gov (United States)

    Hemachandran, Manikkapurath; Radotra, Bishan Dass

    2004-10-01

    Duplication of notochord results in rare congenital anomalies like double headed monsters, with or without trunk/limb duplication, depending upon the extent of notochordal abnormality. Here we describe the morphological abnormalities in a case of partial duplication of cranial structures with fusion of the two. Autopsy findings suggest that the bifurcation of the neural tube took place around 4th to 6th week of gestation. There are only few reports in English literature describing the autopsy findings of such an anomaly, which is termed as Diprosopus triophthalmus in the modern literature.

  4. Pictorial essay: Congenital anomalies of male urethra in children

    Science.gov (United States)

    Jana, Manisha; Gupta, Arun K; Prasad, Kundum R; Goel, Sandeep; Tambade, Vishal D; Sinha, Upasna

    2011-01-01

    Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions. PMID:21431032

  5. Pictorial essay: Congenital anomalies of male urethra in children

    International Nuclear Information System (INIS)

    Jana, Manisha; Gupta, Arun K; Prasad, Kundum R; Goel, Sandeep; Tambade, Vishal D; Sinha, Upasna

    2011-01-01

    Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions

  6. Pictorial essay: Congenital anomalies of male urethra in children

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2011-01-01

    Full Text Available Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions.

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

    Science.gov (United States)

    2014-01-01

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

  8. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    International Nuclear Information System (INIS)

    Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

    2014-01-01

    There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

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

    Directory of Open Access Journals (Sweden)

    Gianicolo Emilio Antonio Luca

    2012-12-01

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

  10. Trends in congenital anomalies in Europe from 1980 to 2012

    Science.gov (United States)

    Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E. H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

    2018-01-01

    Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003–2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation. PMID:29621304

  11. Patent Ductus Arteriosus Associated with Congenital Anomaly of Coronary Artery

    OpenAIRE

    Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

    2013-01-01

    We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echoca...

  12. Monitoring of congenital anomalies in Japan

    International Nuclear Information System (INIS)

    Kuroki, Y.; Konishi, H.

    1992-01-01

    Birth defects monitoring system is one of the most effective strategies to prevent birth defects mainly caused by environmental factors. Six different monitoring systems are working in Japan. Three of them are population-based and the other three hospital-based, both are widely scattered in Japan. Basic methodological designs of all birth defects monitoring systems are same. Therefore, the combination of them seems to be ideal. Total number of births surveyed in all systems are 283,000 annually. Each system has already accumulated relevant baseline data. Birth defects monitoring has another function to test the safety of widely exposed factors such as smoking, alcohol, low dose radiations, etc. Maternal smoking has some adverse effects on morphogenesis of the fetus. However, low dose radiations during or before pregnancy have no significant teratogenic effects on the fetus. The genetic effects of the Chernobyl nuclear power plant accident was studied. The annual effective dose equivalent to Japanese population due to radioactive fallout from the accident was assessed to be 5 μSv/y. No measurable mutagenic effects were recognized in Kanagawa by the analysis of three sentinel anomalies. (author)

  13. Limb body wall complex: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Panduranga Chikkannaiah

    2013-01-01

    Full Text Available We present autopsy findings of a case of limb body wall complex (LBWC. The fetus had encephalocele, genitourinary agenesis, skeletal anomalies and body wall defects. The rare finding in our case is the occurrence of both cranial and urogenital anomalies. The presence of complex anomalies in this fetus, supports embryonal dysplasia theory of pathogenesis for LBWC.

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

    Directory of Open Access Journals (Sweden)

    Bing-Yu Chen

    2009-06-01

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

  15. Congenital eye and adneial anomalies in Kano, a 5 year review ...

    African Journals Online (AJOL)

    Background: Knowledge of prevalence and types of congenital eye and adnexial anomalies is important as some of these anomalies can lead to childhood blindness. The aim of the study is to determine the types of congenital eye and adnexial anomalies seen in the eye clinic of Aminu Kano Teaching Hospital Kano, ...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-12-01

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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

    BACKGROUND: More information is needed about possible associations between the newer anti-epileptic drugs (AEDs) in the first trimester of pregnancy and specific congenital anomalies of the fetus. OBJECTIVES: We performed a literature review to find signals for potential associations between newer...... studies with pregnancies exposed to newer AEDs and detailed information on congenital anomalies. The congenital anomalies in the studies were classified according to the congenital anomaly subgroups of European Surveillance of Congenital Anomalies (EUROCAT). We compared the prevalence of specific...... and were not supported by other studies. No signals were found for the other newer AEDs, or the information was too limited to provide such a signal. CONCLUSION: In terms of associations between monotherapy with a newer AED in the first trimester of pregnancy and a specific congenital anomaly, the signals...

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

    Science.gov (United States)

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

    1976-02-01

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

  19. Temporal bone CT analysis of congenital ear anomalies

    International Nuclear Information System (INIS)

    Hwang, Jung Won; Moon, Min Joo; Sung, Kyu Bo

    1988-01-01

    Authors analysed the CT findings of the congenital ear anomalies of twenty-nine patients for 2 years and 3 months. The results were as follows: 1. Most of the patients were under the age of 20 (82.7%) and prevalent in male (72.4%). 2. Clinically, congenital ear anomalies were detected in 20 patients (68.9%), conductive hearing loss in 4, sensorineural hearing loss in 1, and the remained 4 patients were detected incidentally without clinical symptom. 3. In the cases of unilateral involvement of 20 patients, right ear was more common (12/20). Eight of 9 bilateral involvement showed similar degree. 4. The middle ear malformations were found in 22 patients (75.9%) and bilateral in 4 patients. 26 cases of middle ear malformations had been classified by Frey into 4 groups; Group I in 5, Group II in 9, Graoup III in 9 and Group IV in 3. 5. Incidentally found ear anomaly was lateral semicircular canal formed a single cavity with the vestibule in all patients (5 pts.). 6. Inner ear malformations accompanying sensorineural hearing loss were found in 3 patients with bilateral involvement and middle ear malformations were accompanied in 2 patients. The degree of involvement of labyrinth was variable.

  20. Mondini defect in association with multiple congenital anomalies.

    Science.gov (United States)

    Sekhar, H K; Sachs, M

    1976-01-01

    A case of bilaterally symmetrical genetic aplasia conforming to Mondini type of congenital deformity in a 12-day-old child is presented with the help of temporal bone sections. Cochlear changes include a stunted modiolus, deficient interscalar septum between the middle and upper coils forming a scala communis cochleae, a degenerated organ of Corti and reduced spiral ganglion cells and dendrites. The vestibule is malformed, with membranous labyrinth being deficient. The utricle and semicircular canals are absent. There is no oval window or stapedial footplate, and the facial nerve is hypoplastic. An interesting feature is the unusual association of bilateral bony choanal atresia, atrial septal defect, cleft lip, absence of olfactory bulbs in the brain, and congenital ophthalmic anomalies.

  1. Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: A hospital based study

    International Nuclear Information System (INIS)

    Sallout, Bahauddin I.; Al-Hoshan, Manal S.; Attyyaa, Rehman A.; Al-Suleimat, Abdelmane A.

    2008-01-01

    The exact antenatal prevalence of congenital anomalies in Saudi society is unknown. Early antenatal diagnosis of congenital anomalies is crucial for early counseling, intervention and possible fetal therapy. The objective of this study was to evaluate the antenatal frequency of major congenital anomalies and malformations patterns in our hospital population and to evaluate the outcome and perinatal mortality rates for major congenital anomalies. This was a prospective study of the antenatal diagnosis of major fetal congenital anomalies conducted in the ultrasound Department of the Women's Specialized Hospital at King Fahd Medical City from for 7762 patients and 5379 babies delivered in our institution. We diagnosed 217 cases of fetal anomalies. The antenatal prevalence of congenital anomalies was 27.96 per 1000. The median maternal age at diagnosis was 27.5 years. Te median gestational age at diagnosis was 31 weeks. Genitourinary and cranial anomalies were the commonest; for 186 patients delivered in our institution, the birth prevalence was 34.57 per 1000 births. The median gestational age at delivery was 38 weeks. The perinatal mortality arte was 34.9% (65/186), including all cases of intrauterine fetal and neonatal deaths. The prevalence of major congenital anomalies in our population appears to be similar to international figures. Major congenital anomalies are a major cause of perinatal mortality. (author)

  2. Scintigraphic evaluation of congenital anomalies of the thyroid gland

    International Nuclear Information System (INIS)

    Paul, A. K.; Hassan, M.A.; Miah, M.S.R.

    2001-01-01

    Total 2287 patients who undergone thyroid scintigraphy in Nuclear Medicine Centre, Khulna from January 1998 to December 2000 were retrospectively studied to evaluate the congenital anomalies of the thyroid gland. Scintigraphy showed thyroid anomalies in 11 patients (0.48%). The presenting features and thyroid function tests were analyzed and a detailed study was performed. Of these 11 cases, 7 patients (63.6%) had ectopic thyroid gland and site of ectopic was found to be lingual in 4 cases, sublingual in 2 cases and pre laryngeal in 1 case, 3 patients (27.3%) with hemi agenesis of thyroid and 1 patient (9.1%) with athyreosis. Biochemically 3 cases were hypothyroid of which 2 had ectopic thyroid and 1 with athyreosis. 1 patient was hyperthyroid with hemi agenesis of thyroid and 7 were euthyroid. Females were more affected than males, the ratio being 4.5:1. (authors) 2 tabs. 12 refs

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  4. Association of two respiratory congenital anomalies: tracheal diverticulum and cystic adenomatoid malformation of the lung

    International Nuclear Information System (INIS)

    Restrepo, S.; Villamil, M.A.; Rojas, I.C.; Lemos, D.F.; Echeverri, S.; Angarita, M.; Triana, G.

    2004-01-01

    Many associations of congenital anomalies of the respiratory system have been reported, but the combination of tracheal diverticulum and cystic adenomatoid malformation (CCAM) is unique. We present a patient with these two anomalies and analyze their embryological correlation. (orig.)

  5. Congenital anomalies of the spine and spinal cord

    International Nuclear Information System (INIS)

    Altman, N.R.; McLone, D.G.; Naidich, T.P.; Zimmerman, R.A.; Raybaud, C.A.

    1991-01-01

    In the spine, the most common congenital lesions presenting to medical attention are the diverse forms of spinal dysraphism and the diverse forms of caudal spinal anomalies. Most commonly, these conditions are discovered at birth or in early childhood. Less commonly, they first present to medical attention in adulthood. Widespread use of magnetic resonance imaging (MRI) is expected to reduce the incidence of delayed diagnosis of the dysraphisms and the other spinal malformations. This paper addresses the most common forms of dysraphism and the most common caudal spinal anomalies. It provides an overview of embryology for orientation and then groups the anomalies in terms of the specific derangements of embryology that are believed to give rise to the anomalies. It is hoped that this approach will provide greater understanding of these lesions and better long-term retention of information about them. A conceptual framework of embryology and pathogenesis may eliminate the need for rote memorization; certainly it is a more satisfying approach intellectually

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

    Science.gov (United States)

    Bueno, J; Flors, L; Mejía, M

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

  7. Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

    Science.gov (United States)

    Passias, Peter G; Poorman, Gregory W; Jalai, Cyrus M; Diebo, Bassel G; Vira, Shaleen; Horn, Samantha R; Baker, Joseph F; Shenoy, Kartik; Hasan, Saqib; Buza, John; Bronson, Wesley; Paul, Justin C; Kaye, Ian; Foster, Norah A; Cassilly, Ryan T; Oren, Jonathan H; Moskovich, Ronald; Line, Breton; Oh, Cheongeun; Bess, Shay; LaFage, Virginie; Errico, Thomas J

    2017-10-09

    Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating

  8. Usefulness of fetal MR imaging for congenital urological anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Akasaka, Yoshinobu; Sugimura, Kazuro [Kobe Univ. (Japan). Graduate School of Medicine; Kanegawa, Kimio [Kobe Children' s Hospital (Japan)

    2002-04-01

    Despite the fact that congenital urological anomalies are not rare, the role of fetal MRI in these disorders has not been well defined. We evaluated the usefulness of MRI in the prenatal diagnosis of patients with such anomalies. A total of 23 cases were included in this study. The 23 cases were divided as follows: 7 cases of bilateral renal agenesis or severe hypogenesis (Potter sequence: PS), 8 cases of multicystic dysplastic kidney (2 cases were bilateral: MCDK), 5 cases of hydronephrosis (HN), one case of hydroureteronephrosis (HUN) and 2 cases of HN or HUN with duplication (DUP). In this study the scan time for fetal MRI was approximately 30 seconds for one sequence. Overall, the diagnostic accuracy was 65.2%; 85.2% for PS, 87.5% for MCDK, 60.0% for HN, 50.0% for HUN and 0% for DUP. Even though imaging quality was relatively poor for motion artifact in this series, we were able to diagnose PS and MCDK because of associated lung hypoplasia and its characteristic shape. The diagnosis of HN, HUN and DUP was difficult. HN was sometimes misdiagnosed as a retroperitoneal cystic mass because the dilation of calices was obscured in severe cases. In HUN and DUP cases dilation of the ureter was unclear. However, using HASTE or true FISP sequence may solve this problem. Based on this data, we conclude that fetal MRI is useful for prenatal diagnosis of urological anomalies. (author)

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

    Directory of Open Access Journals (Sweden)

    A. Bhat

    2016-09-01

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

  10. Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

    OpenAIRE

    Noor Mohammad Noori; Alireza Teimouri; Tahereh Boryri; Sirous Risbaf Fakour; Fateme Shahramian

    2016-01-01

    Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD) is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to ...

  11. Patent ductus arteriosus associated with congenital anomaly of coronary artery.

    Science.gov (United States)

    Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

    2013-11-01

    We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echocardiography showed normal left and right ventricular size and systolic function (LVEF = 55%). Main pulmonary artery (PA) and left pulmonary artery (LPA) branch were considerably dilated. Considering normal coronary flow, lack of clinical evidence of myocardial ischemia and echocardiography findings, patient underwent surgical closure of PDA via left thoracotomy and after five days discharged uneventfully.

  12. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

    Science.gov (United States)

    Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O’Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

    2018-01-01

    Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. Design, setting and outcome measures EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. Conclusions By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. PMID:28667189

  13. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.

    Science.gov (United States)

    Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

    2018-01-01

    To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. MRI in the assessment of congenital vaginal anomalies

    International Nuclear Information System (INIS)

    Humphries, P.D.; Simpson, J.C.; Creighton, S.M.; Hall-Craggs, M.A.

    2008-01-01

    Aim: To assess accuracy of magnetic resonance imaging (MRI) for the delineation of morphological abnormalities of the vagina in patients with congenital anomalies of the genito-urinary tract. Materials and methods: Fifty-one patients (median age 19 years; range 12-40 years) were studied. All were consecutively referred for MRI to assess genital tract anatomy, between 1996 and 2004, from a clinic specializing in congenital abnormalities of the urogenital tract. All patients were assessed clinically and underwent MRI. Images were reviewed retrospectively by an experienced radiologist. Where there was discordance between clinical and radiological findings a consensus diagnosis was achieved by the gynaecologists and radiologists reviewing all of the clinical and radiological evidence together, including assessment of vaginal length. Results: The clinical data were incomplete for five women and the images non-diagnostic in two cases; consequently, 44 of 51 women had complete datasets and could be evaluated. Vaginas were abnormal in 30 of the 44 patients. There was discordance between the clinical and imaging findings at the initial review in three of the 44 cases (6.8%). After consensus review, and with the inclusion of measurement of the vaginal length on MRI, the MRI and clinical findings were concordant in all cases. The initial discordance was due to two vaginal dimples not being appreciated on MRI and one case in which presence of vaginal tissue proximal to a mid-segment obstruction was not appreciated clinically. Conclusion: MRI is an accurate method of imaging vaginal anomalies. However, to achieve reliable results the radiologist requires details of previous surgery and the vaginal length must be measured

  15. MRI in the assessment of congenital vaginal anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Humphries, P.D. [Department of Radiology, University College Hospital, London (United Kingdom); Simpson, J.C.; Creighton, S.M. [Department of Obstetrics and Gynaecology, University College Hospital, London (United Kingdom); Hall-Craggs, M.A. [Department of Radiology, University College Hospital, London (United Kingdom)], E-mail: margaret.hall-craggs@uclh.nhs.uk

    2008-04-15

    Aim: To assess accuracy of magnetic resonance imaging (MRI) for the delineation of morphological abnormalities of the vagina in patients with congenital anomalies of the genito-urinary tract. Materials and methods: Fifty-one patients (median age 19 years; range 12-40 years) were studied. All were consecutively referred for MRI to assess genital tract anatomy, between 1996 and 2004, from a clinic specializing in congenital abnormalities of the urogenital tract. All patients were assessed clinically and underwent MRI. Images were reviewed retrospectively by an experienced radiologist. Where there was discordance between clinical and radiological findings a consensus diagnosis was achieved by the gynaecologists and radiologists reviewing all of the clinical and radiological evidence together, including assessment of vaginal length. Results: The clinical data were incomplete for five women and the images non-diagnostic in two cases; consequently, 44 of 51 women had complete datasets and could be evaluated. Vaginas were abnormal in 30 of the 44 patients. There was discordance between the clinical and imaging findings at the initial review in three of the 44 cases (6.8%). After consensus review, and with the inclusion of measurement of the vaginal length on MRI, the MRI and clinical findings were concordant in all cases. The initial discordance was due to two vaginal dimples not being appreciated on MRI and one case in which presence of vaginal tissue proximal to a mid-segment obstruction was not appreciated clinically. Conclusion: MRI is an accurate method of imaging vaginal anomalies. However, to achieve reliable results the radiologist requires details of previous surgery and the vaginal length must be measured.

  16. 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. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  17. How Accurate Is Diagnosis of Congenital Anomalies Made by Family Physicians?

    Directory of Open Access Journals (Sweden)

    Hossein Mashhadi Abdolahi

    2014-12-01

    Full Text Available Background: Although family physicians have a key role in clinical management of many diseases and in community health, the accuracy of the diagnosis for congenital anomalies by family physicians still needs more investigations. The aim of this study was to assess the accuracy of family physicians in case detec-tion and diagnosis of congenital anomalies in rural areas, northwest of Iran. Methods: In a community-based study of 22500 children born between 2004 and 2012, all 172 cases of congenital anomalies diagnosed by family physicians were assessed by a qualified pediatrician in 47 health houses in rural areas of Tabriz District, northwest Iran. A group of 531 children was compared as con-trol subjects. Results: The overall sensitivity and specificity of family physicians‟ diagnosis for congenital anomalies were estimated 98% (95% Confidence Interval (CI: 95.9 to 100 and 100% (95% CI: 99.3 to 100, respectively. Sensitivity for diagnosis of congenital heart diseases was 97% (95% CI: 93 to 100, and for genitourinary tract, it was 86% (95% CI: 59 to 100. Specificity was estimated 100% for both groups of heart and genitourinary tract anomalies. Conclusion: The performance of family physicians was found accurate enough in the diagnosis of congenital anomalies. Health care system may consider family physician program as an effective approach to detect and clinical management of congenital anomalies.

  18. Extra Lobes of Liver and Congenital Anomalies of Diaphragm in Children

    Directory of Open Access Journals (Sweden)

    I.P. Zhurylo

    2014-09-01

    Full Text Available The literature data on hepatic congenital anomalies in children are summarized in this article. Three clinical observations of transposition of extra lobe of the liver (ELL into the thoracic cavity in children were analyzed. The true diaphragmatic hernia was found in all cases. Clinical manifestations of this disease depend on the severity of the compression of mediastinum organs. Indications for surgical correction were determined individually. ELL move into the abdominal cavity, excision of the hernia sac and alloplasty of the diaphragmatic defect were performed for one patient. Possible mechanisms for the formation of these complex congenital malformations were discussed based on the comparison of clinical data with the stages of embryogenesis liver, diaphragm and heart.

  19. Does the visibility of a congenital anomaly affect maternal-infant attachment levels?

    Science.gov (United States)

    Boztepe, Handan; Ay, Ayşe; Kerimoğlu Yıldız, Gizem; Çınar, Sevil

    2016-10-01

    To determine whether congenital anomaly visibility affects maternal-infant attachment levels. The study population consisted of mothers who had infants with cleft lip/palate or congenital heart anomalies who were receiving treatment in a university hospital. The data were collected using the Structured Questionnaire Form and the Maternal Attachment Inventory. Statistically significant differences in maternal-infant attachment levels were observed between infants with cleft lips/palates and healthy infants and between infants with congenital heart anomalies and healthy infants. It is important to apply appropriate nursing interventions for these mothers during the postpartum period. © 2016, Wiley Periodicals, Inc.

  20. The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

    OpenAIRE

    Patel, Alpen B.; Hinni, Michael L.

    2011-01-01

    Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

  1. The fourth branchial complex anomaly: a rare clinical entity.

    Science.gov (United States)

    Patel, Alpen B; Hinni, Michael L

    2011-01-01

    Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

  2. Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

    Directory of Open Access Journals (Sweden)

    S. Liu

    2015-07-01

    Full Text Available Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those in the province of Quebec between April 2002 and March 2013 and their live-born infants with a birth weight of 500 grams or more and/or a gestational age of 22 weeks or more. Pre-pregnancy type 1 or type 2 DM was identified using ICD-10 diagnostic codes. The association between DM and all congenital anomalies as well as specific congenital anomaly categories was estimated using adjusted odds ratios; the impact was calculated as a population attributable risk percent (PAR%. Results: There were 118 892 infants with a congenital anomaly among 2 839 680 live births (41.9 per 1000. While the prevalence of any congenital anomaly declined from 50.7 per 1000 live births in 2002/03 to 41.5 per 1000 in 2012/13, the corresponding PAR% for a congenital anomaly related to pre-pregnancy DM rose from 0.6% (95% confidence interval [CI]: 0.4–0.8 to 1.2% (95% CI: 0.9–1.4. Specifically, the PAR% for congenital cardiovascular defects increased from 2.3% (95% CI: 1.7–2.9 to 4.2% (95% CI: 3.5–4.9 and for gastrointestinal defects from 0.8% (95% CI: 0.2–1.9 to 1.4% (95% CI: 0.7–2.6 over the study period. Conclusion: Although there has been a relative decline in the prevalence of congenital anomalies in Canada, the proportion of congenital anomalies due to maternal prepregnancy DM has increased. Enhancement of preconception care initiatives for women with DM is recommended.

  3. Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

    Science.gov (United States)

    Liu, S.; Rouleau, J.; León, J. A.; Sauve, R.; Joseph, K. S.; Ray, J. G.; System, Canadian Perinatal Surveillance

    2015-01-01

    Abstract Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM) on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those in the province of Quebec) between April 2002 and March 2013 and their live-born infants with a birth weight of 500 grams or more and/or a gestational age of 22 weeks or more. Pre-pregnancy type 1 or type 2 DM was identified using ICD-10 diagnostic codes. The association between DM and all congenital anomalies as well as specific congenital anomaly categories was estimated using adjusted odds ratios; the impact was calculated as a population attributable risk percent (PAR%). Results: There were 118 892 infants with a congenital anomaly among 2 839 680 live births (41.9 per 1000). While the prevalence of any congenital anomaly declined from 50.7 per 1000 live births in 2002/03 to 41.5 per 1000 in 2012/13, the corresponding PAR% for a congenital anomaly related to pre-pregnancy DM rose from 0.6% (95% confidence interval [CI]: 0.4–0.8) to 1.2% (95% CI: 0.9–1.4). Specifically, the PAR% for congenital cardiovascular defects increased from 2.3% (95% CI: 1.7–2.9) to 4.2% (95% CI: 3.5–4.9) and for gastrointestinal defects from 0.8% (95% CI: 0.2–1.9) to 1.4% (95% CI: 0.7–2.6) over the study period. Conclusion: Although there has been a relative decline in the prevalence of congenital anomalies in Canada, the proportion of congenital anomalies due to maternal pre-pregnancy DM has increased. Enhancement of preconception care initiatives for women with DM is recommended. PMID:26186019

  4. Possibilities of fast track surgery principles in the treatment of congenital urological anomalies

    Directory of Open Access Journals (Sweden)

    Bižić Marta R.

    2012-01-01

    Full Text Available Introduction. Urogenital congenital anomalies are among the most common congenital anomalies and very frequent pathology in paediatric urology. Health care systems strive to shorten the duration and reduce the costs of hospitalization, while maintaining treatment effectiveness. Objective. To evaluate the duration of hospital stay of surgically treated patients with congenital urogenital anomalies and estimate the possibility of using fast track surgery principles in paediatric urology in the local settings of a developing country. Methods. Retrospective non-randomized study included 552 patients who had been surgically treated at the Urology Department of the University Children’s Hospital, during 2010. In line with their congenital anomalies, all patients were classified in one of four groups: I - upper urinary tract anomalies (252 patients; II - genital anomalies (164 patients; III - testicular anomalies (76 patients and IV - associated anomalies (60 patients. We analyzed the total duration of stay as well as preand post-operative stay in the hospital. Results. The average duration of hospitalization was 4.7±4.0 days. Patients with testicular anomalies stayed for the shortest period (2.3±1.9 days (p<0.01 and patients with associated anomalies stayed in the hospital the longest (6.5±4.7 days (p<0.01. Conclusion. Modern methods of surgical treatment allow reduction of hospitalization, financial savings to the healthcare system and greater comfort for patients. Our results showed that this is also possible to apply in our environment.

  5. Comparative study of the congenital anomalies before and after Chernobyl disaster

    International Nuclear Information System (INIS)

    Zaprjanov, Z.; Porjazova, E.; Djambazova, S.; Hubavenska, I.; Velichkova, L.

    2005-01-01

    The aim of our study was a comparative examination of the congenital anomalies before and directly after the Chernobyl disaster in the early and later periods of time. For the study post mortem material of the Department of general and clinical pathology at the Medical University of Plovdiv was used. Eight hundred seventy eight cases of newborns with congenital anomalies for a 24-year period (1981-2004) were reviewed. The number of the congenital anomalies was compared quantitatively in general and in systems. Equal 5-year intervals of time were compared to a control 5-year period before the Chernobyl accident. The data were statistically processed using different statistical methods. The comparative study of the number of the congenital anomalies did not show a statistically significant increase in relation to the nuclear accident

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general......, and whether any increase was greater during the 2009 pandemic than during other seasons. METHODS: We performed an ecologic time series analysis based on 26,967 pregnancies with nonchromosomal congenital anomaly conceived from January 2007 to March 2011, reported by 15 EUROCAT registries. Analysis...... and tricuspid atresia and stenosis during pandemic influenza season 2009, but not during 2007-2011 influenza seasons. For congenital anomalies, where there was no prior hypothesis, the prevalence of tetralogy of Fallot was strongly reduced during influenza seasons. CONCLUSIONS: Our data do not suggest...

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

    NARCIS (Netherlands)

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

    2014-01-01

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

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    INTRODUCTION: Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription...... databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies. METHODS: We linked data from primary care and prescription databases to five European Surveillance...... of Congenital Anomalies (EUROCAT) CA registries. The linkage was evaluated by looking at linkage rate, characteristics of linked and non-linked cases, first trimester exposure rates for six groups of medicines according to the prescription data and information on medication use registered in the CA databases...

  9. Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

    2017-12-15

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

  10. Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

    International Nuclear Information System (INIS)

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

    2017-01-01

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

  11. Coronary artery anomalies and clinically important anatomy in patients with congenital heart disease: multislice CT findings

    International Nuclear Information System (INIS)

    Goo, Hyun Woo; Seo, Dong-Man; Yun, Tae-Jin; Park, Jeong-Jun; Park, In-Sook; Ko, Jae Kon; Kim, Young Hwee

    2009-01-01

    In patients with congenital heart disease, coronary artery anomalies are common and have different clinical importance from individuals with structurally normal hearts. Visibility of the coronary arteries by CT has markedly improved due to high temporal resolution and ECG-synchronized data acquisition. In this article we describe current multislice CT techniques for coronary artery imaging and illustrate coronary artery anomalies and clinically important coronary artery anatomy from the point of view of congenital heart disease. (orig.)

  12. Coronary artery anomalies and clinically important anatomy in patients with congenital heart disease: multislice CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea); Seo, Dong-Man; Yun, Tae-Jin; Park, Jeong-Jun [University of Ulsan College of Medicine, Department of Pediatric Cardiac Surgery, Asan Medical Center, Seoul (Korea); Park, In-Sook; Ko, Jae Kon; Kim, Young Hwee [University of Ulsan College of Medicine, Department of Pediatric Cardiology, Asan Medical Center, Seoul (Korea)

    2009-03-15

    In patients with congenital heart disease, coronary artery anomalies are common and have different clinical importance from individuals with structurally normal hearts. Visibility of the coronary arteries by CT has markedly improved due to high temporal resolution and ECG-synchronized data acquisition. In this article we describe current multislice CT techniques for coronary artery imaging and illustrate coronary artery anomalies and clinically important coronary artery anatomy from the point of view of congenital heart disease. (orig.)

  13. Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt.

    Science.gov (United States)

    Ali, Ahmed Ali Abdelrahim

    2018-01-01

    Median cleft deformities of the lower lip and mandible are very rare congenital anomalies. Our patient had median cleft of the lower lip, mandible, and the chin with tongue duplication, ankyloglossia, and cleft strap muscles with 2 neck contracture bands. This anomaly was associated with congenital heart disease transposition of great vessels, large ventricular septal defect, and severe pulmonary stenosis. Early repair was done at 6 months to improve feeding.

  14. Anomaly Detection for Complex Systems

    Data.gov (United States)

    National Aeronautics and Space Administration — In performance maintenance in large, complex systems, sensor information from sub-components tends to be readily available, and can be used to make predictions about...

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

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Loane, Maria

    2011-01-01

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

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

    DEFF Research Database (Denmark)

    Calzolari, Elisa; Barisic, Ingeborg; Loane, Maria

    2014-01-01

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

  17. [Diagnosis and treatment of congenital fourth branchial anomaly].

    Science.gov (United States)

    Chen, Liang-si; Zhang, Si-yi; Luo, Xiao-ning; Song, Xin-han; Zhan, Jian-dong; Chen, Shao-hua; Lu, Zhong-ming

    2010-10-01

    To discuss the anatomic features, clinical presentations, diagnosis, differentiations and treatments of congenital fourth branchial anomaly(CFBA). The clinical data of 8 patients with CFBA were retrospectively analyzed. Of the 8 patients aging from 27 to 300 months (median age: 114 months), 4 male and 4 female; 3 untreated previously and 5 recurrent. All lesions, including 1 cyst, 3 sinus (with internal opening) and 4 fistula, located in the left necks. Three patients presented acute suppurative thyroiditis, 4 deep neck abscesses, and 1 neck lump. Preoperative examinations included barium esophagogram, direct laryngoscopy, ultrasonography, CT, MRI, and so on. The principles of managements were adequate drainage, infection control during acute period and radical surgery during quiescent period. Classic surgical approach consisted of complete excision of branchial lesions, dissection of recurrent laryngeal nerve and partial thyroidectomy. Selective neck dissection was applied in recurrent cases to extirpate branchial lesions, scarrings and inflammatory granuloma. Postoperatively, 1 case was with local incision infection which healed by wound care; 1 case was with temporary vocal cord paralysis which completely recovered 1 month after operation. No recurrence was found in all of 8 cases with follow-up of 13 to 42 months (median: 21 months). CFBA relates closely anatomically with recurrent laryngeal nerve and thyroid grand. The barium esophagogram and direct laryngoscopy are the most useful diagnostic tools. CT and MRI are all beneficial to the diagnosis of CFBA. The treatment key to CFBA is the complete excision of lesion during a quiescent period after inflammatory control, together with the dissection of recurrent laryngeal nerve, partial thyroidectomy and partial resection of lamina of thyroid cartilage (if necessary), which all can decrease the risk of complications and recurrence. For recurrent cases, selective neck dissection is a safe and effective surgical

  18. An embryological point of view on associated congenital anomalies of children with Hirschsprung disease.

    Science.gov (United States)

    Slavikova, T; Zabojnikova, L; Babala, J; Varga, I

    2015-01-01

    The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed  the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75).

  19. Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging.

    Science.gov (United States)

    Trenga, Anthony P; Singla, Anuj; Feger, Mark A; Abel, Mark F

    2016-08-01

    Congenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases. All patients aged ≤13 years (n = 75) presenting to the pediatric spine clinic from 2003-2013 with congenital bony spinal deformity and both radiographs and MRI were analyzed retrospectively for bone and neural pathology. Chi-squared analysis was used to compare groups for categorical dependent variables. Independent t tests were used for continuous dependent variables. Significance was set at p formation had a higher incidence of cord anomalies (73 %) than failures of formation (50 %) or segmentation (45 %) alone (p = 0.065). Deformities in the sacrococcygeal area had the highest rate of spinal cord anomalies (13 of 15 patients, 87 %). In 35 cases (47 %), MRI revealed additional bony anomalies that were not seen on the radiographs. As the number of bony malformations increased, we found a higher incidence of cord anomalies. Clinicians should have increased suspicion of spinal cord pathology in the presence of mixed failures of segmentation and formation.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-05-01

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

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

    International Nuclear Information System (INIS)

    Dong, Su-Zhen; Zhu, Ming

    2015-01-01

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

  2. Fourth branchial complex anomalies: a case series.

    Science.gov (United States)

    Shrime, Mark; Kacker, Ashutosh; Bent, John; Ward, Robert F

    2003-11-01

    Anomalies of the fourth branchial arch complex are exceedingly rare, with approximately forty cases reported in the literature since 1972. The authors report experience with six fourth arch anomalies. Retrospective chart review of six consecutive patients presenting to the pediatric otolaryngology service at a tertiary care center with anomalies referable to the fourth branchial arch. All six patients presented within the first or second decade of life. All six had left-sided disease. Four patients presented with recurrent neck infection, one with asymptomatic cervical masses, and one with a neck mass and respiratory compromise. One patient had prior surgery presented with a recurrence. Diagnosis of fourth arch anomalies was suggested or confirmed by computed tomography and flexible laryngoscopy. Treatment was surgical in five patients; one patient is awaiting surgery. Surgical procedures included resection of the mass and endoscopic cauterization of the inner opening of the cyst. The presentation of a cervical mass, especially with recurrent infections and especially on the left side, in a child in the first or second decade of life heightens suspicion for an anomaly of the fourth branchial arch. Diagnosis can be difficult, but is aided by the use of flexible laryngoscopy, Computed tomography (CT) scanning and ultrasonography. Surgical resection of the cyst and cauterization of its pyriform sinus opening should be undertaken to minimize recurrence.

  3. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    International Nuclear Information System (INIS)

    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes

  4. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming [Sun Yat-Sen University, Guangzhou (China)

    2015-09-15

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

  5. Trans-sphenoidal encephalocele in association with Dandy-Walker complex and cardiovascular anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Joy, H.M.; Barker, C.S. [Wessex Neurological Centre, Southampton (United Kingdom); Small, J.H. [Dept. of Radiology, Royal Bournemouth Hospital (United Kingdom); Armitage, M. [Bournemouth Diabetes and Endocrine Centre, Royal Bournemouth Hospital (United Kingdom)

    2001-01-01

    We present a case of trans-sphenoidal encephalomeningocele in association with a posterior cranial fossa malformation which fulfils the criteria for the Dandy-Walker complex. Congenital cardiovascular defects were also present. An abnormality of neural crest development may be responsible for the combined occurrence of these anomalies. (orig.)

  6. The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

    Directory of Open Access Journals (Sweden)

    Alpen B. Patel

    2011-01-01

    Full Text Available Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

  7. Prevalence of Congenital Anomalies in Iran: A Systematic Review and Meta-analysis

    Directory of Open Access Journals (Sweden)

    Salman Daliri

    2018-05-01

    Full Text Available Background: Congenital anomaly is a disturbance in fetal growth and development during pregnancy and is one of the main causes of morbidity and mortality in the first year of life. In addition, this anomaly causes a large waste of heath care resources. We aimed to determine the prevalence and proportion rates of different congenital anomalies in Iran via a systematic review and meta-analysis.Methods: The present study was performed to estimate the prevalence and proportion rates of different anomalies in Iran via a systematic review and meta-analysis. Therefore, all the studies performed in Iran between 2000 and 2016 were evaluated. For this purpose, Medlib, Scopus, Web of Science, PubMed, Cochrane Library, Science Direct, Google Scholar, Irandoc, Magiran, IranMedex, and SID databases were searched by two different expert individuals independently. For the qualification survey of the papers, the Strengthening the Reporting of Observational Studies in Epidemiology checklist was applied. Then, the extracted data were entered into STATA (ver.11.1 and analysed using statistical tests of stability and random effects models in meta-regression, a tool used in meta-analysis. The 95% confidence intervals were calculated by I-square models. Meta regression was introduced to explore the heterogeneities among studies.Results: Overall, 36 papers with a total sample size of 909,961 neonates were analysed. The total prevalence rate for congenital anomalies was 18/1000 live births, 23.2/1000 and 18/1000 for boys and girls, respectively. Moreover, 55.8% of all congenital anomalies pertained to boys. The greatest prevalence and proportion rates of congenital anomalies belonged to musculoskeletal disorders followed by urogenital anomalies (9.3/1000 [34%] and 5.7/1000 [20%], respectively, and the lowest figures belonged to chromosomal and respiratory system anomalies (0.8/1000 [6%] and 0.3/1000 [2%], respectively.Conclusion: According to the findings of this meta

  8. Fourier analysis of multi-gated cardiac blood-pool data in patients with congenital heart diseases, (2). Assessment of diseases with complex cardiac anomalies, especially tetralogy of Fallot

    Energy Technology Data Exchange (ETDEWEB)

    Takeda, Kan; Maeda, Hisato; Yamaguchi, Nobuo; Nakamura, Kazuyoshi; Matsumura, Kaname; Nakagawa, Tsuyoshi; Sakurai, Minoru; Aoki, Kenzo

    1985-04-01

    The clinical usefulness of Fourier analysis of multi-gated cardiac blood-pool data was evaluated in 18 subjects with normal cardiac functions and 14 patients with complex cardiac anomalies (ten with tetralogy of Fallot, two with tricuspid atresia (TA), one with double-outlet right ventricle (DORV), and one with Ebstein's anomaly (EA)). Using global ventricular time-activity curves, the phase and amplitude at fundamental frequency were calculated, and emptying patterns of the left and right ventricles (LV, RV) were evaluated by phase difference (D(phase)=RV phase minus LV phase) and amplitude ratio of RV to LV (R(amp)). In patients with TOF, mean values of D (phase) and R(amp) were 25.3 +- 10.5 degrees and 13.5 +- 0.49 respectively and significantly larger than those of normal subjects. D (phase) became larger in inverse proportion to the ratio of pulmonary-to-systemic blood flow and there was an inverse linear correlation between these two variables. On visual interpretation of functional images, the dynamic property of hypoplastic ventricles could be easily estimated in patients with TA or DORV. In a case with EA, the atrialized RV was shown clearly as a hypokinetic, atrial phase area. This method is valuable for pathophysiologic investigation of diseases with complex cardiac anomalies. (author).

  9. Congenital anomalies in rural black South African neonates - a ...

    African Journals Online (AJOL)

    Infants, including abnormal neonates, born on the days when no infants were ... defined as any gross developmental defect apparent on ... Multiple congenital abnormalities. 9. 1,18 ... chromosomal disorders included a trisomy 13, a trisomy 18.

  10. Distribution of congenital anomalies in a neonatal intensive care unit in Turkey.

    Science.gov (United States)

    Dursun, Arzu; Zenciroglu, Ayşegul; Hakan, Nilay; Karadag, Nilgun; Karagol, Belma Saygili; Aydin, Banu; Dilli, Dilek; Okumus, Nurullah; Beken, Serdar

    2014-07-01

    Congenital anomalies are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to determine the incidence, distribution and the mortality of the congenital anomalies in a single neonatal intensive care unit (NICU) from Turkey. A retrospective analysis was performed between 2005 and 2012 in NICU using a computerized database. Variables including the type of anomaly, antenatal and postnatal history, gestational age, birth weight, consanguinity and other demographic, clinical and related laboratory variables were extracted from the computerized database using ICD-10 codes. Congenital anomalies were classified according to involved organ systems and also classified as single and multiple anomalies. A total of 1024 newborns with congenital anomaly (CA) (13.7%) were identified among the 7450 hospitalized newborns in NICU. The most affected system was the cardiovascular system (68.8%). Most of the anomalies (67.1%) were single anomalies. Of all, 59.4% had single major, 7.7% had single minor, 9% had single major plus single minor, 18.4% had multiple major and 2% had multiple minor anomalies. On the other hand, 96.3, 1.9, 0.1 and 1.7% of the newborns had malformation, deformation, disruption and dysplasia, respectively. Chromosomal analysis was only performed 24.8% of the newborns with CA and among them, 65.3% of these were in normal limits. The most frequently detected chromosomal abnormality was trisomy 21. Overall, mortality rate was 15.5% among the newborns with CA. In conclusion, the most common and mortal CA was cardio-vascular malformations in our hospital. The overall prevalence of cardio-vascular malformations among the newborn was higher than previously reported studies in Turkey. Further, studies with larger sample size are needed to determine CA in Turkey.

  11. From diagnosis to birth: parents' experience when expecting a child with congenital anomaly.

    Science.gov (United States)

    Askelsdóttir, Björk; Conroy, Sherrill; Rempel, Gwen

    2008-12-01

    Of 350,000 Canadian children born each year, 2% to 3% will have a serious congenital anomaly. Because of recent ultrasound diagnostic improvements and increased frequency of prenatal scans, many anomalies are determined prenatally, with more parents receiving disturbing, unanticipated news of an anomaly. This article highlights the experiences, concerns, and healthcare needs of parents who receive a prenatal diagnosis of congenital anomaly during routine ultrasound and choose to continue with the pregnancy. Examples from parent interviews describing their experience complement the sparse literature dealing with this phenomenon. Parents describe their experience from antenatal diagnosis and preparation for the child's birth and subsequent admission to the neonatal intensive care unit. Attention is paid to how neonatal nurses can positively influence this process by attending to parents' feelings or moods. The conclusion includes recommendations for neonatal nursing care for these vulnerable parents.

  12. Bicornuate-Septate Uterus: A New Congenital Uterine Anomaly

    Directory of Open Access Journals (Sweden)

    Babak Dabir-Ashrafi

    2008-08-01

    Full Text Available Bicornuate uterus is class IV and septate uterus is class Vin uterine anomaly classification.Bicornuate uterus is almost always treated by laparotomy and metroplasty. But the treatment of choice for septate uterus is hysteroscopic metroplasty. Bicornuate- septate uterus which is described in this paper is a new class of uterine anomaly(between class IV & V. The advantages of hysteroscopic metroplasty to laparotomy and metroplasty have been proven previously.It is important to know if the uterine anomaly is pure bicornuate or bicornuate-septate. In the latter case, we suggest the first line of operation should be hysteroscopic metroplasty.

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

    NARCIS (Netherlands)

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

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

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

    NARCIS (Netherlands)

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

    2015-01-01

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

  15. Congenital coronary artery anomalies: diagnosis with 64 slice multidetector row computed tomography coronary angiography: A single Centre Study

    International Nuclear Information System (INIS)

    Srnivasan, K.G.; Gaikward, A.; Kannan, B.R.J.; Ritesh, K.; Ushanandini, K.P.

    2008-01-01

    Full text: Retrospective review of the congenital coronary artery (CA) anomalies detected by a 64-slice multidetector row computed tomographic (MDCT) angiography. The type of the anomaly, imaging characteristics, clinical relevance and the superiority of the MDCT over conventional coronary angiography are discussed. Multidetector row computed tomographic coronary angiography was carried out by the usual technique with 70 cc of non-ionic contrast agent and retrospective electrocardiogram gating. The volume data obtained were reconstructed in axial plane, along with volume-rendered three-dimensional reconstruction and virtual angioscopy in selected patients. The images were analysed by a radiologist, experienced in cardiac CT, and an experienced cardiologist. A retrospective review of the records was carried out, and subjects with congenital coronary anomalies were included in the study. Between 15 November 2005 and 27 February 2007, 1495 MDCT coronary angiograms were carried out. Eleven of them were found to have coronary anomalies. Five had absent left main CA. Two had interarterial course of the left main CA artery passing in between the right ventricular outflow tract and the root of aorta. In one patient, there was aberrant origin of right CA from the left aortic sinus with subsequent interarterial course and another one had aberrant origin of circumflex artery from the right aortic sinus. One patient each of congenitally absent circumflex artery and atresia of the right CA were found. Sixty-four slice MDCT coronary angiography provided accurate depiction of anomalous vessel origin and course along with the complex anatomical relation with the adjacent structures. CTcan be considered as a first-line imaging method for delineating coronary arterial anomalies.

  16. Urogenital tract anomalies in children with congenital anorectal malformation

    NARCIS (Netherlands)

    J.W. Hoekstra

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find

  17. Complex branchial fistula: a variant arch anomaly.

    Science.gov (United States)

    De Caluwé, D; Hayes, R; McDermott, M; Corbally, M T

    2001-07-01

    A 5-year-old boy presented with an infected left-sided branchial fistula. Despite antibiotic treatment and repeated excision of the fistula, purulent discharge from the wound persisted. Three-dimensional computed tomography (3D CT) reconstruction greatly facilitated the diagnosis and management of this case by showing the course of the fistulous tract. The complexity of the tract suggests that this represents a variant arch anomaly because it contains features of first, second, third, and fourth arch remnants. Copyright 2001 by W.B. Saunders Company.

  18. A Study of Maternal Attachment among Mothers of Infants with Congenital Anomalies in Turkey

    Science.gov (United States)

    Ylmaz, Hatice Bal; Kavlak, Oya; Isler, Aysegul; Liman, Tulin; Van Sell, Sharon L.

    2011-01-01

    The purpose of this study was to investigate the factors that affect maternal attachment among mothers whose infants were born with congenital anomalies. A questionnaire was used to collect individual sociodemographic data, and the Maternal Attachment Inventory was used to collect information about the emotional attachment of mothers to infants…

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

    Science.gov (United States)

    Neri, G; Martini-Neri, M E; Katz, B E; Opitz, J M

    1984-09-01

    We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

  20. Pelvic Venous Variations in Patients with Congenital Inferior Vena Cava Anomalies: Classification with Computed Tomography

    International Nuclear Information System (INIS)

    Morita, S.; Higuchi, M.; Saito, N.; Mitsuhashi, N.

    2007-01-01

    Background: Pelvic venous variations of congenital inferior vena cava (IVC) anomalies that have the potential to cause problems during related surgery and interventional radiology are not fully appreciated. Purpose: To classify pelvic venous variations of congenital IVC anomalies using computed tomography (CT). Material and Methods: CT images for 36 patients with congenital IVC anomalies were retrospectively reviewed. Pelvic venous variations were classified with regard to the relationship with the iliac veins and the presence of interiliac communication. Results: Pelvic venous variations were classified into eight types. One azygous continuation displayed normal connection with the bilateral common iliac veins (CIV) (type 1). Of 28 double IVCs, 11 (39.3%) displayed no interiliac communication (type 2a), five (17.9%) displayed interiliac communication from the left CIV (type 2b), one (3.6%) had communication from the right CIV (type 2c), six (21.4%) had communication from the left internal iliac vein (IIV) (type 2d), and five (17.9%) had communication from the right IIV (type 2e). Six left IVCs displayed symmetrical-to-normal connection with the bilateral CIV (type 3). One absence of infrarenal IVC displayed no connection with the CIV (type 4). Conclusion: Eight types of pelvic venous variations of congenital IVC anomalies were classified using CT

  1. Risk factors for congenital anomalies in high risk pregnant women: A ...

    African Journals Online (AJOL)

    Tella Sunitha

    2016-05-14

    May 14, 2016 ... genital malformations cannot be linked to a specific cause. BOH implies ... results were interpreted on the basis of Immune Status Ratio. (ISR) index ... lar System disorders [atrial and ventricular septal defects, pericardial .... Family H/o congenital anomalies/mental retardation/genetic diseases. Yes. 36(10).

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    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-bas...

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    DEFF Research Database (Denmark)

    Dolk, Helen; Wang, Hao; Loane, Maria

    2016-01-01

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

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

    NARCIS (Netherlands)

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

    2010-01-01

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

  6. Outcome of assisted reproduction in women with congenital uterine anomalies: a prospective observational study.

    Science.gov (United States)

    Prior, M; Richardson, A; Asif, S; Polanski, L; Parris-Larkin, M; Chandler, J; Fogg, L; Jassal, P; Thornton, J G; Raine-Fenning, N J

    2018-01-01

    To assess the prevalence of congenital uterine anomalies, including arcuate uterus, and their effect on reproductive outcome in subfertile women undergoing assisted reproduction. Consecutive women referred for subfertility between May 2009 and November 2015 who underwent assisted reproduction were included in the study. As part of the initial assessment, each woman underwent three-dimensional transvaginal sonography. Uterine morphology was classified using the modified American Fertility Society (AFS) classification of congenital uterine anomalies proposed by Salim et al. If the external contour of the uterus was uniformly convex or had an indentation of Reproductive outcomes, including live birth, clinical pregnancy and preterm birth, were compared between women with a normal uterus and those with a congenital uterine anomaly. Subgroup analysis by type of uterine morphology and logistic regression analysis adjusted for age, body mass index, levels of anti-Müllerian hormone, antral follicle count and number and day of embryo transfer were performed. A total of 2375 women were included in the study, of whom 1943 (81.8%) had a normal uterus and 432 (18.2%) had a congenital uterine anomaly. The most common anomalies were arcuate (n = 387 (16.3%)) and subseptate (n = 16 (0.7%)) uterus. The rate of live birth was similar between women with a uterine anomaly and those with a normal uterus (35% vs 37%; P = 0.47). The rates of clinical pregnancy, mode of delivery and sex of the newborn were also similar between the two groups. Preterm birth before 37 weeks' gestation was more common in women with uterine anomalies than in controls (22% vs 14%, respectively; P = 0.03). Subgroup analysis by type of anomaly showed no difference in the incidence of live birth and clinical pregnancy for women with an arcuate uterus, but indicated worse pregnancy outcome in women with other major anomalies (P = 0.042 and 0.048, respectively). Congenital uterine anomalies as a whole, when

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

    Directory of Open Access Journals (Sweden)

    Saeid Dastgiri

    2015-08-01

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

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy......% confidence intervals (CI) were calculated adjusted for registry. Results SSRI use in first trimester pregnancy was associated with CHD overall (OR 1.38, 95 % CI 1.05-1.82, n=109); and with severe CHDs (OR 1.56, 95 % CI 1.03-2.38, n=29). Specific associations between SSRI and Tetralogy of Fallot (OR 3.36, 95...

  9. Sirenomelia: A Rare Case of Foetal Congenital Anomaly

    OpenAIRE

    Dharmraj, Meena; Gaur, Sumitra

    2012-01-01

    Sirenomelia, alternatively known as ?mermaid syndrome? is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid?. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the fi...

  10. Sirenomelia: a rare case of foetal congenital anomaly.

    Science.gov (United States)

    Dharmraj, Meena; Gaur, Sumitra

    2012-10-01

    Sirenomelia, alternatively known as 'mermaid syndrome' is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid'. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the findings, relative to the present literature and related etiopathogenesis.

  11. Lumbar Disc Herniation in a Patient With Congenital Vertebral Body Anomaly: A Case Report

    Science.gov (United States)

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

    2014-01-01

    Lumbar disc herniation is characterized with low back and leg pain resulting from the degenerated lumbar disc compressing the spinal nerve root. The etiology of degenerative spine is related to age, smoking, microtrauma, obesity, disorders of familial collagen structure, occupational and sports-related physical activity. However, disc herniations induced by congenital lumbar vertebral anomalies are rarely seen. Vertebral fusion defect is one of the causes of congenital anomalies. The pathogenesis of embryological corpus vertebral fusion anomaly is not fully known. In this paper, a 30-year-old patient who had the complaints of low back and right leg pain after falling from a height is presented. She had right L5-S1 disc herniation that had developed on the basis of S1 vertebra corpus fusion anomaly in Lumbar computed tomography. This case has been discussed in the light of literature based on evaluations of Lumbar Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). This case is unique in that it is the first case with development of lumbar disc herniation associated with S1 vertebral corpus fusion anomaly. Congenital malformations with unusual clinical presentation after trauma should be evaluated through advanced radiological imaging techniques. PMID:25620987

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

    Directory of Open Access Journals (Sweden)

    Stephanie Dellicour

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

  13. Congenital anomalies associated with trisomy 18 or trisomy 13

    DEFF Research Database (Denmark)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and term...

  14. Congenital anomalies: Prospective study of pattern and associated ...

    African Journals Online (AJOL)

    2017-04-02

    Apr 2, 2017 ... tre from high voltage electricity transmission cables. Distances ... 48% in the maternal age group of 26-30 years and drops ... Table 4: Distribution of the anomalies ... (23.1%) and the central nervous system (16.7%) (Table. 4).

  15. Primary prevention of congenital anomalies: recommendable, feasible and achievable

    DEFF Research Database (Denmark)

    Taruscio, Domenica; Mantovani, Alberto; Carbone, Pietro

    2015-01-01

    anomalies is feasible because scientific evidence points to several risk factors (e.g., obesity, infectious and toxic agents) and protective factors (e.g., folic acid supplementation and glycemic control in diabetic women). Evidence-based community actions targeting fertile women can be envisaged...

  16. First branchial complex anomalies: report of 3 cases

    International Nuclear Information System (INIS)

    Goten, A. van der; Hermans, R.; Hover, P. van; Crevits, I.; Baert, A.L.

    1997-01-01

    Three cases of first branchial cleft anomalies are presented. The embryology and pathology of first branchial complex anomalies, their imaging characteristics and differential diagnosis are discussed. (orig.). With 3 figs

  17. First branchial complex anomalies: report of 3 cases

    Energy Technology Data Exchange (ETDEWEB)

    Goten, A. van der [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium); Hermans, R. [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium); Hover, P. van [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium); Crevits, I. [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium); Baert, A.L. [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium)

    1997-02-01

    Three cases of first branchial cleft anomalies are presented. The embryology and pathology of first branchial complex anomalies, their imaging characteristics and differential diagnosis are discussed. (orig.). With 3 figs.

  18. LUMBAR: association between cutaneous infantile hemangiomas of the lower body and regional congenital anomalies.

    Science.gov (United States)

    Iacobas, Ionela; Burrows, Patricia E; Frieden, Ilona J; Liang, Marilyn G; Mulliken, John B; Mancini, Anthony J; Kramer, Daniela; Paller, Amy S; Silverman, Robert; Wagner, Annette M; Metry, Denise W

    2010-11-01

    To define the clinical spectrum of regional congenital anomalies associated with large cutaneous hemangiomas of the lower half of the body, clarify risk for underlying anomalies on the basis of hemangioma location, and provide imaging guidelines for evaluation. We conducted a multi-institutional, retrospective case analysis of 24 new patients and review of 29 published cases. Hemangiomas in our series tended to be "segmental" and often "minimal growth" in morphology. Such lesions were often extensive, covering the entire leg. Extensive limb hemangiomas also showed potential for extracutaneous anomalies, including underlying arterial anomalies, limb underdevelopment, and ulceration. The cutaneous hemangioma and underlying anomalies demonstrated regional correlation. Myelopathies were the most common category of associated anomalies. We propose the acronym "LUMBAR" to describe the association of Lower body hemangioma and other cutaneous defects, Urogenital anomalies, Ulceration, Myelopathy, Bony deformities, Anorectal malformations, Arterial anomalies, and Renal anomalies. There are many similarities between LUMBAR and PHACE syndrome, which might be considered regional variations of the same. Although guidelines for imaging are suggested, prospective studies will lead to precise imaging recommendations and help determine true incidence, risk and long-term outcomes. Copyright © 2010 Mosby, Inc. All rights reserved.

  19. The incidence of apparent congenital urogenital anomalies in North ...

    African Journals Online (AJOL)

    Prune belly syndrome was seen in 1 newborn. Newborns weighing less than 2500 g had a higher proportion of anomalies (9.64%) in comparison to those weighing over 2500 g (1.99%) (p = 0.0001). A maternal age >30 years, parity >2 and infertility treatment were recorded in 5.40%, 4.93% and 9.80%, respectively, and all ...

  20. Ex Vivo Reconstruction and Autotransplantation for Hilar Renal Artery Aneurysms in Patients with Congenital Anomalies.

    Science.gov (United States)

    Adeyemi, Jaiyeola; Johnson, Jacob; Rits, Yevgeniy; Akingba, A George; Rubin, Jeffrey

    2018-02-01

    Renal artery aneurysms (RAAs) are an uncommon finding but are more often associated with other congenital disorders. The complex (hilar) RAAs constitute a subset of RAAs that present a therapeutic dilemma for the vascular surgeon because of their anatomic location. This dilemma worsens when hilar RAAs occur with a solitary kidney where organ preservation is vital. Ex vivo reconstruction with autotransplantation is especially suitable for hilar RAAs, even when they are associated with a solitary kidney. We report 2 of such cases of RAAs with a solitary kidney in patients with pertinent congenital anomalies. In 1 case, the hilar RAA was associated with a significant accessory renal artery, whereas in the other case, the hilar RAA was associated with a significant connective tissue disorder. Ex vivo reconstruction and autotransplantation was successful in both cases; however, treatment modalities had to be adapted to the patient's unique conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Saurabh RamBihariLal Shrivastava

    2015-03-01

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

  2. Renal dynamic functional scintigraphy in children with congenital urinary tract anomalies

    International Nuclear Information System (INIS)

    Cui Ruixue; Zhou Qian

    2000-01-01

    Objective: To clarify the characteristics of renal scintigraphy in children with various congenital urinary tract anomalies and to evaluate their clinical significance. Methods: 51 children with congenital urinary tract anomalies were studied by 99 Tc m -DTPA renal dynamic functional scintigraphy (RDFS)). Among them, 8 cases were studied by diuretic renography in addition. Results: RDFS provided: 1) Both the morphological information of anomalies and the split renal function. 2) Localization of the site of urinary tract obstruction. In case of pelviureteric junction obstruction, the hydronephrosis was usually severe but with normal size ureter, whereas in ureterovesical junction obstruction the hydronephrosis was less severe but with dilatation of ureter. In case of lower urinary tract obstruction, the hydronephrosis and hydroureter were bilateral. Diuretic renography differentiated obstructive from non-obstructive hydronephrosis. By comparing pre-and post operative studies, it was easy to evaluate the recovery of renal function. Conclusions: RDFS is a valuable modality for giving both anatomical and functional information in children with congenital urinary tract anomalies and the authors suggest it should be used more popularly in Pediatrics

  3. Tracheobronchial Branching Anomalies

    International Nuclear Information System (INIS)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick; Park, A Young

    2010-01-01

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

  4. Tracheobronchial Branching Anomalies

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-04-15

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

  5. Unusual association of congenital middle ear cholesteatoma and first branchial cleft anomaly: management and embryological concepts.

    Science.gov (United States)

    Nicollas, R; Tardivet, L; Bourlière-Najean, B; Sudre-Levillain, I; Triglia, J M

    2005-02-01

    To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. Retrospective study and review of the literature Both patients were young girls free of past medical or surgical history. Surgical removal of the first cleft anomaly found in the two cases a fistula routing underneath the facial nerve. Both cholesteatomas were located in the hypotympanum, mesotympanum. In one case, an anatomical link between the two malformations was clearly identified with CT scan. The main embryological theories and classification are reviewed. A connection between Aimi's and Michaels' theories (congenital cholesteatoma) and Work classification might explain the reported clinical association.

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

    Science.gov (United States)

    Bos, C A; Baljet, B

    1999-12-18

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

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

    Directory of Open Access Journals (Sweden)

    Nadia Skauli

    2016-11-01

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

  8. Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

    Science.gov (United States)

    Nef, Samuel; Neuhaus, Thomas J; Spartà, Giuseppina; Weitz, Marcus; Buder, Kathrin; Wisser, Josef; Gobet, Rita; Willi, Ulrich; Laube, Guido F

    2016-05-01

    Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function. The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome. • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney

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

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    Jitka Rychtarikova

    2013-01-01

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

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

    Science.gov (United States)

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

    2013-11-01

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

  11. Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

    Science.gov (United States)

    Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

    2012-12-01

    Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

  12. Motor-function and exercise capacity in children with major anatomical congenital anomalies : An evaluation at 5 years of age

    NARCIS (Netherlands)

    M.H.M. van der Cammen-van Zijp (Monique); S.J. Gischler (Saskia); P. Mazer (Petra); M. van Dijk (Monique); D. Tibboel (Dick); H. IJsselstijn (Hanneke)

    2010-01-01

    markdownabstract__Background:__ Children with major anatomical congenital anomalies (CA) often need prolonged hospitalization with surgical interventions in the neonatal period and thereafter. Better intensive care treatment has reduced mortality rates, but at the cost of more morbidity. __Aim:__

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

    Directory of Open Access Journals (Sweden)

    M.P. Limarenko

    2014-08-01

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

  14. Exploring Risk Perception and Attitudes to Miscarriage and Congenital Anomaly in Rural Western Kenya

    OpenAIRE

    Dellicour, Stephanie; Desai, Meghna; Mason, Linda; Odidi, Beatrice; Aol, George; Phillips-Howard, Penelope A.; Laserson, Kayla F.; ter Kuile, Feiko O.

    2013-01-01

    Background\\ud Understanding the socio-cultural context and perceptions of adverse pregnancy outcomes is important for informing the best approaches for public health programs. This article describes the perceptions, beliefs and health-seeking behaviours of women from rural western Kenya regarding congenital anomalies and miscarriages.\\ud \\ud Methods\\ud Ten focus group discussions (FGDs) were undertaken in a rural district in western Kenya in September 2010. The FGDs included separate groups c...

  15. Generalized smooth muscle hamartoma with multiple congenital anomalies without the "Michelin tire baby" phenotype.

    Science.gov (United States)

    Janicke, Elise C; Nazareth, Michael R; Rothman, Ilene L

    2014-01-01

    We report a patient with generalized smooth muscle hamartoma who presented with many of the variety of congenital anomalies that have been reported in babies with multiple symmetric circumferential rings of folded skin known as Michelin tire baby (MTB) syndrome, but our patient did not show the MTB phenotype. This constellation of findings in the absence of the MTB phenotype has not been previously reported. © 2014 Wiley Periodicals, Inc.

  16. The Pelvic Digit: A Rare Congenital Anomaly as a Cause of Hip Pain

    OpenAIRE

    Moreta-Su?rez, Jes?s; de Ugarte-Sobr?n, Oskar S?ez; S?nchez-Sobrino, Alberto; Mart?nez-De Los Mozos, Jos? Luis

    2012-01-01

    Introduction: The pelvic digit or pelvic rib is an unusual congenital anomaly with a finger or rib like bone formation in soft tissues around normal pelvic skeleton. This is a benign lesion and mostly an Incidental finding on radiographs. Most reported cases are asymptomatic and do not require intervention. We report a case of symptomatic pelvic rib that required surgical excision. Case Report: A 57-year-old man presented with a long history of pain and functional limitation in his right hip....

  17. Low-dose x-radiation and congenital anomalies

    International Nuclear Information System (INIS)

    Kameyama, Yoshiro

    1983-01-01

    Among radiation effects on developing embryos and fetuses, occurrence of germinal mutation due to exposure of the gonads and postnatal manifestation of neoplasms are considered to be stochastic effects from the aspect of radiation protection. On the other hand, somatic effects such as teratogenic and embryo-toxic effects can be regarded as nonstochastic ones with threshold doses. In experimental teratological studies with mice and rats, the lowest radiation doses for manifestation of the non-stochastic somatic effects which have been recognized so far are:5 rad for resorption of preimplantation embryos; 5-10 rad for acute cytological changes such as pyknosis, cytoplasmic degeneration and mitotic delay; 5 rad for increasing frequency of spontaneous minor anomalies of the skeleton; 15-20 rad for malformations of the eye, brain and spinal cord; 20-25 rad for histogenetic and functional disorders of the central nervous system; and 20-25 rad for impaired fertility. Pregnant women who are subject to X-ray examinations are much concerned about potential hazard of radiation to their offspring in utero. The above experimental findings suggest that the possibility of non-stochastic somatic effects of diagnostic radiation on human embryos and fetuses is extremely low, and probably negligible, given the proper dose control measures. Possible effects which should be considered for risk evaluation of diagnostic exposure are two stochastic effects, carcinogenic and mutagenic. (author)

  18. Prenatal screening for congenital anomalies: exploring midwives' perceptions of counseling clients with religious backgrounds.

    Science.gov (United States)

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

    2014-07-19

    In the Netherlands, prenatal screening follows an opting in system and comprises two non-invasive tests: the combined test to screen for trisomy 21 at 12 weeks of gestation and the fetal anomaly scan to detect structural anomalies at 20 weeks. Midwives counsel about prenatal screening tests for congenital anomalies and they are increasingly having to counsel women from religious backgrounds beyond their experience. This study assessed midwives' perceptions and practices regarding taking client's religious backgrounds into account during counseling. As Islam is the commonest non-western religion, we were particularly interested in midwives' knowledge of whether pregnancy termination is allowed in Islam. This exploratory study is part of the DELIVER study, which evaluated primary care midwifery in The Netherlands between September 2009 and January 2011. A questionnaire was sent to all 108 midwives of the twenty practices participating in the study. Of 98 respondents (response rate 92%), 68 (69%) said they took account of the client's religion. The two main reasons for not doing so were that religion was considered irrelevant in the decision-making process and that it should be up to clients to initiate such discussions. Midwives' own religious backgrounds were independent of whether they paid attention to the clients' religious backgrounds. Eighty midwives (82%) said they did not counsel Muslim women differently from other women. Although midwives with relatively many Muslim clients had more knowledge of Islamic attitudes to terminating pregnancy in general than midwives with relatively fewer Muslim clients, the specific knowledge of termination regarding trisomy 21 and other congenital anomalies was limited in both groups. While many midwives took client's religion into account, few knew much about Islamic beliefs on prenatal screening for congenital anomalies. Midwives identified a need for additional education. To meet the needs of the changing client population

  19. Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-09-01

    Full Text Available Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to 31 th November 2015 from three general hospitals in Zahedan, The capital city of the Sistan & Baluchestan  province, Iran. All oral cleft patients were under echocardiography to diagnosis the incidence of CHD as associated anomaly. The collected data were processed using SPSS-16. Results The results of the analysis showed that the incidence of cleft lip was higher in boys than girls, while the cleft palate was higher in girls. Lip/palate cleft was higher for boys.  Oral clefts patients accounted of 102 (0.2% with incidence rate of 2.095 per 1000 lives. Of 102 patients 19 (18.62%, 39(35.24% and 44(43.14% were oral lip, oral palate and both respectively. The incidence of CHD in patients with oral clefts was 26.5%, while the incidences for cleft lip, cleft palate and both were 15.79%, 20.51%, and 36.36% respectively. Conclusion From the study concluded that the rate of CHD among children with oral clefts was high compared with the healthy children.  Strongly is suggested the echocardiography for these patients to have early diagnostic of CHD to manage any life-threatening.

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

    Directory of Open Access Journals (Sweden)

    Huixia Li

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

  1. Congenital Anomalies in Children Exposed to Antithyroid Drugs In-Utero: A Meta-Analysis of Cohort Studies

    Science.gov (United States)

    Luo, Jiayou; Zeng, Rong; Feng, Na; Zhu, Na; Feng, Qi

    2015-01-01

    Background Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs). However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero. Methods Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs) and confidence intervals (CIs) for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I 2 tests. Results Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU), methimazole/carbimazole (MMI/CMZ), and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42), 1.64 (95%CI: 1.39-1.92), and 1.83 (95%CI: 1.30-2.56) for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively. Conclusions The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly. PMID:25974033

  2. Risk of congenital anomalies in the vicinity of municipal solid waste incinerators.

    Science.gov (United States)

    Cordier, S; Chevrier, C; Robert-Gnansia, E; Lorente, C; Brula, P; Hours, M

    2004-01-01

    Although municipal solid waste incineration (MSWI) has contributed to increase the overall environmental load of particulate matter containing dioxins and metals, evidence of health consequences to populations is sparse. To assess at a regional level (in southeast France) the impact of these emissions on birth defect rates. Communities with fewer than 50 000 inhabitants surrounding the 70 incinerators that operated at least one year from 1988 to 1997 were studied. Each exposed community (n = 194) was assigned an exposure index estimated from a Gaussian plume model. Poisson models and a reference population of the 2678 unexposed communities in the region were used to calculate relative risks for congenital malformations, adjusted for year of birth, maternal age, department of birth, population density, average family income, and when available, local road traffic. The rate of congenital anomalies was not significantly higher in exposed compared with unexposed communities. Some subgroups of major anomalies, specifically facial clefts and renal dysplasia, were more frequent in the exposed communities. Among exposed communities, a dose-response trend of risk with increasing exposure was observed for obstructive uropathies. Risks of cardiac anomalies, obstructive uropathies, and skin anomalies increased linearly with road traffic density. Although both incinerator emissions and road traffic may plausibly explain some of the excess risks observed, several alternative explanations, including exposure misclassification, ascertainment bias, and residual confounding cannot be excluded. Some of the effects observed, if real, might be attributable to old-technology MSWIs and the persistent pollution they have generated.

  3. Computer based extraction of phenoptypic features of human congenital anomalies from the digital literature with natural language processing techniques.

    Science.gov (United States)

    Karakülah, Gökhan; Dicle, Oğuz; Koşaner, Ozgün; Suner, Aslı; Birant, Çağdaş Can; Berber, Tolga; Canbek, Sezin

    2014-01-01

    The lack of laboratory tests for the diagnosis of most of the congenital anomalies renders the physical examination of the case crucial for the diagnosis of the anomaly; and the cases in the diagnostic phase are mostly being evaluated in the light of the literature knowledge. In this respect, for accurate diagnosis, ,it is of great importance to provide the decision maker with decision support by presenting the literature knowledge about a particular case. Here, we demonstrated a methodology for automated scanning and determining of the phenotypic features from the case reports related to congenital anomalies in the literature with text and natural language processing methods, and we created a framework of an information source for a potential diagnostic decision support system for congenital anomalies.

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

    Directory of Open Access Journals (Sweden)

    Guillermo Lay-Son

    2015-04-01

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

  5. Congenital anomalies of coronary arteries: Diagnosis with 64 slice multidetector CT

    Energy Technology Data Exchange (ETDEWEB)

    Tariq, Rukhsana, E-mail: drrukhsanatariq@hotmail.com [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan); Kureshi, Shahzad Babar [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan); Siddiqui, Usman T. [Medical College, Aga Khan University, Karachi (Pakistan); Ahmed, Rashid [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan)

    2012-08-15

    Objective: Congenital coronary artery anomalies are generally incidental, uncommon and asymptomatic. Some can cause severe potentially life threatening symptoms. The common mode of studying the coronary arteries is Conventional Coronary Angiogram. ECG-gated-multidetector CT is a non invasive modality. The objective of our study was to identify rare congenital coronary artery anomalies and discuss their clinical significance. Material and methods: A total number of 900 MDCT coronary angiograms were carried out at our institution between the period of April 2006 and October 2010. Patients with coronary artery anomaly constituted the subject of study. Results: The incidence of anomalous anatomical origin and course of the coronary arteries in our study was 1.55%. Hemodynamical significance was seen in five patients. 3 cases of single coronary artery originating from right coronary sinus were seen. 1 case of anomalous left coronary artery arising from main pulmonary artery was seen. 4 cases of anomalous RCA arising from left aortic cusp, 6 cases of absent LMCA with separate origin of LAD and LCX were seen. Conclusion: Multidetector row CT is a noninvasive modality in cardiac imaging. It provides superior resolution of coronary tree and its variant. No projectional vascular overlap is seen. Various postprocessing techniques outclass catheter angiography imaging. Definition of ostia and proximal course of the coronary arteries by Multidetector CT is better than catheter angiography.

  6. Congenital anomalies of coronary arteries: Diagnosis with 64 slice multidetector CT

    International Nuclear Information System (INIS)

    Tariq, Rukhsana; Kureshi, Shahzad Babar; Siddiqui, Usman T.; Ahmed, Rashid

    2012-01-01

    Objective: Congenital coronary artery anomalies are generally incidental, uncommon and asymptomatic. Some can cause severe potentially life threatening symptoms. The common mode of studying the coronary arteries is Conventional Coronary Angiogram. ECG-gated-multidetector CT is a non invasive modality. The objective of our study was to identify rare congenital coronary artery anomalies and discuss their clinical significance. Material and methods: A total number of 900 MDCT coronary angiograms were carried out at our institution between the period of April 2006 and October 2010. Patients with coronary artery anomaly constituted the subject of study. Results: The incidence of anomalous anatomical origin and course of the coronary arteries in our study was 1.55%. Hemodynamical significance was seen in five patients. 3 cases of single coronary artery originating from right coronary sinus were seen. 1 case of anomalous left coronary artery arising from main pulmonary artery was seen. 4 cases of anomalous RCA arising from left aortic cusp, 6 cases of absent LMCA with separate origin of LAD and LCX were seen. Conclusion: Multidetector row CT is a noninvasive modality in cardiac imaging. It provides superior resolution of coronary tree and its variant. No projectional vascular overlap is seen. Various postprocessing techniques outclass catheter angiography imaging. Definition of ostia and proximal course of the coronary arteries by Multidetector CT is better than catheter angiography.

  7. Detection of Congenital Mullerian Anomalies Using Real-Time 3D Sonography

    Directory of Open Access Journals (Sweden)

    Firoozeh Ahmadi

    2011-01-01

    Full Text Available A 35 year-old woman referred to Royan Institute (Reproductive Biomedicine Research Center for infertilitytreatment. She had an eleven-year history of primary infertility with a normal abdominal ultrasound.Hysterosalpingography (HSG was obtained one month prior to referral in another center (Fig A.The HSG finding of an apparent unicorn uterus followed by a normal vaginal ultrasound led us toperform a three-dimensional vaginal ultrasound before resorting to hysteroscopy. Results of thethree-dimensional vaginal ultrasound revealed a normal uterus (Fig B, C.Accurate characterization of congenital Mullerian anomalies (MDAs such as an arcuate, unicornuate,didelphys, bicornuate or septate uterus is challenging. While HSG has been the standard test in the diagnosisof MDAs, some limitations may favor the use of three-dimensional ultrasound. The most difficult partof HSG is interpreting the two-dimensional radiographic image into a complex, three-dimensional livingorgan (1. A variety of technical problems may occur while performing HSG. In this case, only an obliqueview could lead to a correct interpretation. It is advisable for the interpreter to perform the procedure ratherthan to inspect only the finished radiographic images (2.One of the most useful scan planes obtained on three-dimensional ultrasound is the coronal view ofthe uterus. This view is known to be a valuable problem-solving tool that assists in differentiatingbetween various types of MDAs due to the high level of agreement between three-dimensionalultrasound and HSG (3, 4.Recently, three-dimensional ultrasound has become the sole mandatory step in the initial investigationof MDAs due to its superiority to other techniques that have been used for the same purpose (5.

  8. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

    Science.gov (United States)

    van der Ven, Amelie T; Vivante, Asaf; Hildebrandt, Friedhelm

    2018-01-01

    Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans. Copyright © 2018 by the American Society of Nephrology.

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

    DEFF Research Database (Denmark)

    Rankin, Judith; Cans, Christine; Garne, Ester

    2009-01-01

    Aim Our aim was to determine the proportion of children with cerebral palsy (CP) who have a congenital anomaly (CA) in three regions (Isère Region, French Alps; Funen County, Denmark; Northern Region, England) where population-based CP and CA registries exist, and to classify the children according...... to CA subtype. Method Data for children born between 1991 and 1999 were linked using electronic matching of cases. All potential matches were checked manually by each centre and verified as true matches. Results A total of 1104 children with CP were born during the study period (663 males, 441 females...

  10. Diagnosis of common congenital heart anomalies in the dog using survey and nonselective contrast radiography

    International Nuclear Information System (INIS)

    Stickle, R.L.; Anderson, L.K.

    1987-01-01

    The most common canine congenital heart anomalies include patient ductus arteriosus, ventricular septal defects, tetralogy of Fallot, pulmonic stenosis, and aortic stenosis. Survey radiography and nonselective (venous) angiography can allow the practicing veterinarian to confirm the diagnosis in many of these patients. Typical radiographic findings using these diagnostic procedures are reviewed. Nonselective angiocardiography is a relatively easy, rapid, and noninvasive procedure which can be performed using conventional equipment. The major disadvantage of this special procedure is that the superimposition of opacified structures can make the identification of some left-to-right shunts difficult. Dilution of contrast medium can occur if a rapid bolus injection is not made

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-02-01

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

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

    International Nuclear Information System (INIS)

    Corness, Jonathan A.G.; McHugh, Kieran; Roebuck, Derek J.; Taylor, Andrew M.

    2006-01-01

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

  13. Frequency of different congenital anomalies in prenatally valproic acid treated chick embryos

    International Nuclear Information System (INIS)

    Akhtar, L.; Khan, M.Y.

    2016-01-01

    To determine the frequency of different congenital anomalies in surviving chick embryo on hatching after the prenatal administration of valproic acid by comparing with age-matched controls. Study Design: Experimental study. Place and Duration of Study: Anatomy Department, College of Physicians and Surgeons Pakistan (CPSP) Regional Centre, Islamabad, from February 2010 to February 2011. Material and Methods: Thirty fertilized chicken eggs were injected with valproic acid, incubated and then evaluated for different gross congenital anomalies, on hatching or day 22 of incubation whichever was earlier. Chicks of this group were labeled as experimental group-A. Similarly, another group of thirty fertilized chicken eggs labeled as control group-B, underwent sham treatment using normal saline. The weight and length of alive chicks, the total number of chicks with gross anomalies and the number of different types of gross anomalies in both groups were noted and statistically compared. Results: In control group-B, 28 chicks hatch out on 21 day of hatching with no visible gross deformities. Whereas in experimental group-A, 23 chicks were alive, out of which, 9 chicks were with delayed hatching on 22 days of hatching. The chicks with gross deformities were 8 (p=0.0008) which included: limb abnormalities (i.e. inverted feet) in 6 chicks (p=0.006), eye abnormality (i.e. closed palpebral fissure of both eyes) in 2 chick (p=0.2), 1 chick showed multiple deformities including gastroschisis, closed palpebral fissures and inverted foot (p=0.45). There were behavioral changes in 10 chicks (p=0.0001). There was statistically significant difference in their weights (p=0.03). Conclusion: Prenatal exposure of chick embryos to valproic acid increased the incidence of different gross deformities. (author)

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

    Directory of Open Access Journals (Sweden)

    Radoslava Vazharova

    2016-01-01

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

  15. Psychological impact of visible differences in patients with congenital craniofacial anomalies.

    Science.gov (United States)

    Singh, Varun Pratap; Moss, Timothy P

    2015-01-01

    Patients with craniofacial anomalies often have appearance concerns and related social anxiety which can affect their quality of life. This study assessed the psychological impact of facial and dental appearance in patients with craniofacial anomalies in comparison to a general population control group. The study involved 102 adult patients (51% male) with congenital craniofacial anomalies and 102 controls (49% male). Both groups completed the Nepali version of Derriford Appearance Scale (DAS) and the Psychological Impact of Dental Aesthetic Questionnaire (PIDAQ) in a clinical setting to assess appearance-related distress, avoidance, and anxiety. There was a significant difference between patients and controls on both PIDAQ (mean score for patients 33.25 ± 9.45 while for controls 27.52 ± 5.67, p experienced greater negative psychological impact of living with their appearance (PIDAQ) and more appearance-related distress (DAS) than controls. DAS scores were not associated with gender. There was no association of the place of residence (rural vs. urban) with PIDAQ or DAS59 scores. There is a significant psychological impact of altered facial and dental appearance in patients with craniofacial anomalies compared to controls. There was no effect of locality (rural/urban) on the psychological impact of facial and dental appearance in patients.

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

    International Nuclear Information System (INIS)

    Hong, Hyun Sook; Paik, Sang Hyun; Cha, Jang Gyu; Park, Seong Jin; Joh, Joon Hee; Park, Jai Soung; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan

    2005-01-01

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

  17. Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study.

    Science.gov (United States)

    Postoev, Vitaly A; Grjibovski, Andrej M; Kovalenko, Anton A; Anda, Erik Eik; Nieboer, Evert; Odland, Jon Øyvind

    2016-03-01

    Congenital anomalies of the kidney and the urinary tract (CAKUTs) are relatively common birth defects. The combined prevalence in Europe was 3.3 per 1000 in 2012. The risk factors for these anomalies are not clearly identified. The aims of our study were to calculate the birth prevalences of urinary malformations in Murmansk County during 2006 to 2011 and to investigate related prenatal risk factors. The Murmansk County Birth Registry was the primary source of information and our study included 50,936 singletons in the examination of structure, prevalence and proportional distribution of CAKUTs. The multivariate analyses of risk factors involved 39,322 newborns. The prevalence of CAKUTs was 4.0 per 1000 newborns (95% confidence interval [CI], 3.4-4.5) and did not change during the study period. The most prevalent malformation was congenital hydronephrosis (14.2% of all cases). Diabetes mellitus or gestational diabetes (odds ratio [OR] = 4.77; 95% CI, 1.16-19.65), acute infections while pregnant (OR = 1.83; 95% CI, 1.14-2.94), the use of medication during pregnancy (OR = 2.03; 95% CI, 1.44-2.82), and conception during the summer (OR = 1.75; 95% CI 1.15-2.66) were significantly associated with higher risk of CAKUTs. The overall fourfold enhancement of the occurrence of urinary malformations in Murmansk County for the 2006 to 2011 period showed little annual dependence. During pregnancy, use of medications, infections, pre-existing diabetes mellitus, or gestational diabetes were associated with increased risk of these anomalies, as was conception during summer. Our findings have direct applications in improving prenatal care in Murmansk County and establishing targets for prenatal screening and women's consultations. © 2016 Wiley Periodicals, Inc.

  18. Exposure to air pollution and noise from road traffic and risk of congenital anomalies in the Danish National Birth Cohort

    DEFF Research Database (Denmark)

    Pedersen, Marie; Garne, Ester; Hansen-Nord, Nete

    2017-01-01

    BACKGROUND: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. METHODS: Among 84,218 liveborn singletons (1997-2002) from the Danish...... associated with these subgroups of anomalies as well as with an increased OR for orofacial cleft anomalies (1.17, 0.94-1.47). Inverse associations for several both air pollution and noise were observed for atrial septal defects (0.85, 0.68-1.04 and 0.81, 0.65-0.99, respectively). CONCLUSIONS: Residential...... road traffic exposure to noise or air pollution during pregnancy did not seem to pose a risk for development of congenital anomalies....

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-12-15

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

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

    Directory of Open Access Journals (Sweden)

    Adnan Khan

    2015-03-01

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

  1. Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries.

    Science.gov (United States)

    Agopian, A J; Evans, Jane A; Lupo, Philip J

    2018-01-15

    It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs. This article reviews the literature with regard to analytic methods that have been used to evaluate patterns of MCAs, in particular those using birth defect registry data. A popular method for MCA assessment involves a comparison of the observed to expected ratio for a given combination of MCAs, or one of several modified versions of this comparison. Other methods include use of numerical taxonomy or other clustering techniques, multiple regression analysis, and log-linear analysis. Advantages and disadvantages of these approaches, as well as specific applications, were outlined. Despite the availability of multiple analytic approaches, relatively few MCA combinations have been assessed. The availability of large birth defects registries and computing resources that allow for automated, big data strategies for prioritizing MCA patterns may provide for new avenues for better understanding co-occurrence of birth defects. Thus, the selection of an analytic approach may depend on several considerations. Birth Defects Research 110:5-11, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

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

    NARCIS (Netherlands)

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

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

  3. Multislice CT of the auditory ossicles and ossicular ligaments. Delineation of normal anatomy and diagnosis of congenital anomaly

    International Nuclear Information System (INIS)

    Matsumoto, Shigeru; Tozaki, Hiromitu; Miyazaki, Hidemi

    2001-01-01

    By using four detector rows with 0.5 mm collimation, high resolution isotropic voxel data throughout the middle ear can be obtained with Multislice Helical CT (MSCT). The purpose of this study is to evaluate the usefulness of MSCT in demonstrating the auditory ossicles and ossicular ligaments and in the diagnosis of congenital ossicular anomalies. Thirty normal middle ears and 23 ear of 20 patients with suspicious congenital ossicular anomalies were examined. Axial images and multiplanar images were reconstructed. In the normal group, the images were evaluated based on scores for the visualization of the anatomical structure of the auditory ossicles and ossicular ligaments. In the group with anomalies, the findings suggesting ossicular anomalies were referenced and the prevalence was conjectured. Visualization of the auditory ossicles and ossicular ligaments was 98.3%-100% and 78.3%-100%, respectively. Congenital ossicular anomalies were detected in 20 ears (87.0%). MSCT is an accurate method for demonstrating minute and complicated 3D structures of the middle ear, and is found to be a technique of choice for diagnosis of ossicular anomalies. (author)

  4. Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi Arabia

    International Nuclear Information System (INIS)

    Salih, Mustafa A.; Al-Jarallah, Ahmed A.; Kentab, Amal Y.; Murshid, Waleed R.; Zahraa, Jihad N.; Abdel-Gader, Abdel-Galil M.; Alorainy, Ibrahim A.; Hassan, Hamdy H.; Tjan, G. T.

    2006-01-01

    To explore the role of and report congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children. Children with stroke were evaluated at the Division of Pediatric Neurology (Dpn), or were seen as inpatients in the Pediatric Wards at King Khalid University Hospital (KKUH), Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Stroke work-up for each suspected case included hemostatic assays, serological, biochemical and neurophysiological tests. Neuroimaging modalities included routine skill x-rays, CT, MRI, magnetic resonance angiography (MRA) and conventional cerebral angiography. Of 104 children with stroke, congenital and genetic cerebrovascular anomalies were the underlying risk factor in 7 (6.7%). The patients were evaluated at the DPN at a mean age of 66 months (range = 8 months to 11 years, median = 6 years); and they had stroke at a mean age of 48 months (range = 2 months to 10 years, median = 8 months). Four patients had stroke in association with neurocutaneous syndromes. Two had Sturge-Weber syndrome (SWS), one had Klippel-Trenaunay syndrome associated with SWS, and the fourth had neurofibromatosis type 1. Two patients had intracranial hemorrhage secondary to ruptured aneurysm. A girl (aged 9 years and 4 months) had left posterior cerebral artery aneurysm. She was diagnosed to have autosomal dominant polycystic kidney disease following renal ultrasonography. She died 5 months later despite surgical intervention (clipping of aneurysm). The second child was an 8-months-old boy who presented with subarachnoid and intraventricular hemorrhage (IVH) following ruptured anterior communicating artery aneurysm. He recovered with no residual symptoms following successful clipping of the aneurysm. Arteriovenous malformation (AVM) caused IVH in a 7-year-old boy who reported to hospital 5 hours

  5. Multiple caeco-appendiceal fistulas and diverticulosis: a newly defined congenital anomaly of the appendix-report of the first case.

    Science.gov (United States)

    Yucel, Ahmet Fikret; Pergel, Ahmet; Kocakusak, Ahmet; Aydin, Ibrahim; Bagci, Pelin; Sahin, Dursun Ali

    2011-11-01

    Congenital anomalies of the appendix are extremely rare. They are usually found incidentally during operations other than appendectomies. Congenital appendix diverticula are even less frequent. Congenital caeco-appendiceal fistulae have not been reported until today. Herein, we present real diverticula of the appendix with multiple caeco-appendiceal fistulae which, to our knowledge, is the first in the literature.

  6. The "boomerang" malleus-incus complex in congenital aural atresia.

    Science.gov (United States)

    Mukherjee, S; Kesser, B W; Raghavan, P

    2014-01-01

    "Boomerang" malleus-incus fusion deformity is identified on axial high-resolution CT in a subset of patients with congenital aural atresia, and it is associated with an absent incudostapedial joint and stapes capitulum and attachment of the incus to the tympanic segment of the facial nerve canal. Twelve patients with this deformity were identified on a retrospective review of imaging from a cohort of 673 patients with congenital aural atresia, with surgical confirmation in 9 of these patients. Eight of 9 patients underwent partial ossicular replacement prosthesis reconstruction with improvement in hearing outcome. We hypothesize that the boomerang anomaly represents a more severe ossicular anomaly than is normally seen in congenital aural atresia, arising from an arrest earlier in the embryonic development of the first and second branchial arch. This has potentially important implications for surgical planning because hearing outcomes with placement of prosthesis may not be as good as with conventional atresia surgery, in which reconstruction is performed with the patient's native ossicular chain. © 2014 by American Journal of Neuroradiology.

  7. Impact of congenital anomalies and treatment location on the outcomes of infants hospitalized with herpes simplex virus (HSV).

    Science.gov (United States)

    Lorch, Scott A; Millman, Andrea M; Shah, Samir S

    2010-03-01

    Herpes simplex virus (HSV) is a rare but costly reason for hospitalization in infants under 60 days of age. The impact of coexisting comorbid conditions and treatment location on hospital outcome is poorly understood. Determine patient and hospital factors associated with poor outcomes or death in infants hospitalized with HSV. : Retrospective cohort study using the 2003 Kids' Inpatient Database (KID). U.S. hospitals. Infants under 60 days of age with a diagnosis of HSV. Treatment at different types of hospitals, younger age at admission, and presence of congenital anomalies. Serious complications, in-hospital death. A total of 10% of the 1587 identified HSV hospitalizations had a concurrent congenital anomaly. A total of 267 infants had a serious complication and 50 died. After controlling for clinical and hospital characteristics, concurrent congenital anomalies were associated with higher odds of a serious complication (adjusted odds ratio [OR], 3.34; 95% confidence interval [CI], 2.00-5.56) and higher odds of death (adjusted OR, 4.17; 95% CI, 1.74-10.0). Similar results were found for infants admitted under 7 days of age. Although different hospital types had statistically similar clinical outcomes after controlling for case-mix differences, treatment at a children's hospital was associated with an 18% reduction in length of stay (LOS). Infants with concurrent congenital anomalies infected with HSV were at increased risk for serious complications or death. Health resource use may be improved through identification and adoption of care practiced at children's hospitals.

  8. Limb defects associated with major congenital anomalies : Clinical and epidemiological study from the international clearinghouse for birth defects monitoring systems

    NARCIS (Netherlands)

    Rosano, A; Botto, LD; Olney, RS; Khoury, MJ; Ritvanen, A; Goujard, J; Stoll, C; Cocchi, G; Merlob, P; Mutchinick, O; Cornel, MC; Castilla, EE; Martinez-Frias, ML; Zampino, G; Erickson, JD; Mastroiacovo, P

    2000-01-01

    Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring, me pooled data from II birth defect registries that are part of the International Clearinghouse

  9. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube

    NARCIS (Netherlands)

    Oostra, R. J.; Baljet, B.; Hennekam, R. C.

    1998-01-01

    The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies.

  10. Cerebral monitoring during neonatal surgery for non-cardiac congenital anomalies: a first step to improve outcome?

    NARCIS (Netherlands)

    Stolwijk, L.J.

    2017-01-01

    Monitoring the newborn brain during surgery Cerebral monitoring in newborns, who require surgery in the first month of life, is important to protect the brain. The newborn brain is vulnerable during neonatal surgery. Newborn babies with a congenital anomaly requiring surgery in the first month of

  11. Effect of Maternal Diabetes on the Embryo, Fetus, and Children: Congenital Anomalies, Genetic and Epigenetic Changes and Developmental Outcomes

    Czech Academy of Sciences Publication Activity Database

    Ornoy, A.; Reece, E.A.; Pavlínková, Gabriela; Kappen, C.; Miller, R.K.

    2015-01-01

    Roč. 105, č. 1 (2015), s. 53-72 ISSN 1542-975X R&D Projects: GA MŠk(CZ) ED1.1.00/02.0109 Institutional research plan: CEZ:AV0Z50520701 Keywords : PGDM * GDM * congenital anomalies Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.120, year: 2015

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

    NARCIS (Netherlands)

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

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog. © 2014 British Small Animal Veterinary Association.

  17. Horseshoe lung with multiple congenital anomalies. Case report and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Hawass, N.D.; Badawi, M.G.; Fatani, J.A.; Meshari, A.A.; Edrees, Y.B.

    A detailed radiologic and anatomic study of a 20-week old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed.

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

    Directory of Open Access Journals (Sweden)

    Kalpana Kulkarni

    2009-01-01

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

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    OBJECTIVES: There has been much discussion about the relatively high perinatal mortality seen in the Netherlands (Buitendijk 2004, Europeristat 2009), for which congenital anomalies (CA) are known to be one of the four main risk factors. There was no nationwide routine prenatal screening for CA...... in the Netherlands until 2007. We have analysed data for a 14-year period from the EUROCAT registries to investigate the effect of the introduction of screening for CA on the perinatal mortality rate in the Netherlands and compared the results with those from other European registries. METHODS: We used data from...... of 1.35 per 1000 births in the period 1998-2006 to 1.15 per 1000 births in the period 2007-2011. In the northern Netherlands, it dropped from 1.73 per 1000 births in the period 1998-2006 to 1.00 per 1000 births in the period 2007- 2011. In 2011, the perinatal mortality associated with CA...

  20. A holistic approach to CAKUT (Congenital Anomalies of the Kidney and Urinary Tract

    Directory of Open Access Journals (Sweden)

    Giuseppe Masnata

    2016-02-01

    Full Text Available The urinary tract malformations, today called CAKUT (Congenital Anomalies of the Kidney and Urinary Tract, include a range of morphological and/or functional abnormalities of the kidney and urinary tract diseases, apart from being the main cause of renal failure in children. The frequency of these birth defects is around 2% of pregnancies and many genetic syndromes may include CAKUT: about 500 of them have been described. The CAKUT concern localized alterations at different levels of the urinary system: hydronephrosis, vesicoureteral reflux, duplex collecting system, megaureter, kidney dysplasia. In the approach to the child with CAKUT it is important to identify a population at risk, distinguishing between CAKUT with and without clinical significance, applying a tailored approach to the individual patient, avoiding unnecessary investigations and treatments.

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

    Directory of Open Access Journals (Sweden)

    van Dijk Monique

    2008-11-01

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

  2. Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.

    Science.gov (United States)

    Marta, Sara Nader; Kawakami, Roberto Yoshio; Sgavioli, Claudia Almeida Prado Piccino; Correa, Ana Eliza; D'Árk de Oliveira El Kadre, Guaniara; Carvalho, Ricardo Sandri

    2016-08-01

    Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.

  3. Pathogenesis of developmental anomalies of the central nervous system induced by congenital cytomegalovirus infection.

    Science.gov (United States)

    Kawasaki, Hideya; Kosugi, Isao; Meguro, Shiori; Iwashita, Toshihide

    2017-02-01

    In humans, the herpes virus family member cytomegalovirus (CMV) is the most prevalent mediator of intrauterine infection-induced congenital defect. Central nervous system (CNS) dysfunction is a distinguishing symptom of CMV infection, and characterized by ventriculoencephalitis and microglial nodular encephalitis. Reports on the initial distribution of CMV particles and its receptors on the blood brain barrier (BBB) are rare. Nevertheless, several factors are suggested to affect CMV etiology. Viral particle size is the primary factor in determining the pattern of CNS infections, followed by the expression of integrin β1 in endothelial cells, pericytes, meninges, choroid plexus, and neural stem progenitor cells (NSPCs), which are the primary targets of CMV infection. After initial infection, CMV disrupts BBB structural integrity to facilitate the spread of viral particles into parenchyma. Then, the initial meningitis and vasculitis eventually reaches NSPC-dense areas such as ventricular zone and subventricular zone, where viral infection inhibits NSPC proliferation and differentiation and results in neuronal cell loss. These cellular events clinically manifest as brain malformations such as a microcephaly. The purpose of this review is to clearly delineate the pathophysiological basis of congenital CNS anomalies caused by CMV. © 2017 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

  4. Experience of diagnosis of congenital arterial anomaly in a child with bronchial obstruction: clinical case and summary

    Directory of Open Access Journals (Sweden)

    L.V. Besh

    2017-08-01

    Full Text Available Congenital anomalies of the aortic arch are a large group of cardiovascular anomalies. Some of them are isolated; others are associated with congenital heart defects or genetic syndromes. There can be different clinical manifestations of these anomalies — from silent forms (accidentally discovered in the examination to a critical circulatory disturbance, requiring surgical intervention in the first hours after the birth of the baby. The article describes clinical search of double aortic arch in a child and successful surgical treatment of this anomaly. This congenital defect of the aorta usually causes the greatest compression of airways compared to other vascular abnormalities. Double aortic arch develops due to absence of involution of distal IV right aortic arch. As a result, two IV arches keep on developing and join together in the left-sided descending thoracic aorta, thus surrounding the trachea and esophagus. Smaller of the two arches is often subjected to atresia, but it is still connected to the descending aorta, creating a complete vascular ring. As a double aortic arch pressures on the trachea and esophagus, it can cause airway obstruction and dysphagia in a patient. Therapeutic tactic depends on the intensity of symptoms, presence of concomitant anomalies or diseases, and many additional factors, which are analyzed and considered within the council of physicians of different specialties.

  5. Clinical significance of circumportal pancreas, a rare congenital anomaly, in pancreatectomy.

    Science.gov (United States)

    Ohtsuka, Takao; Mori, Yasuhisa; Ishigami, Kousei; Fujimoto, Takaaki; Miyasaka, Yoshihiro; Nakata, Kohei; Ohuchida, Kenoki; Nagai, Eishi; Oda, Yoshinao; Shimizu, Shuji; Nakamura, Masafumi

    2017-08-01

    Circumportal pancreas is a rare congenital pancreatic anomaly. The aim of this study was to clarify the clinical characteristics of patients with circumportal pancreases undergoing pancreatectomy. The medical records of 508 patients who underwent pancreatectomy were retrospectively reviewed. The prevalence of circumportal pancreas and related anatomical variations were assessed. Surgical procedures and postoperative outcomes were compared in patients with and without circumportal pancreas. Circumportal pancreas was observed in 9 of the 508 patients (1.7%). In all nine patients, the portal vein was completely encircled by the pancreatic parenchyma above the level of the splenoportal junction, and the main pancreatic duct ran dorsal to the portal vein. The rate of variant hepatic artery did not differ significantly in patients with and without circumportal pancreas. Pancreatic fistula developed more frequently in patients with than without circumportal pancreas (44% vs. 14%, p = 0.03), but other clinical parameters did not differ significantly in these two groups. Despite being rare, circumportal pancreas may increase the risk of postoperative pancreatic fistula in patients undergoing pancreatectomy. However, a prospective, large-cohort study is necessary to determine the real incidence of relevant anatomical variations and the definitive clinical significance of this rare anomaly. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Increasing mortality burden among adults with complex congenital heart disease.

    Science.gov (United States)

    Greutmann, Matthias; Tobler, Daniel; Kovacs, Adrienne H; Greutmann-Yantiri, Mehtap; Haile, Sarah R; Held, Leonhard; Ivanov, Joan; Williams, William G; Oechslin, Erwin N; Silversides, Candice K; Colman, Jack M

    2015-01-01

    Progress in management of congenital heart disease has shifted mortality largely to adulthood. However, adult survivors with complex congenital heart disease are not cured and remain at risk of premature death as young adults. Thus, our aim was to describe the evolution and mortality risk of adult patient cohorts with complex congenital heart disease. Among 12,644 adults with congenital heart disease followed at a single center from 1980 to 2009, 176 had Eisenmenger syndrome, 76 had unrepaired cyanotic defects, 221 had atrial switch operations for transposition of the great arteries, 158 had congenitally corrected transposition of the great arteries, 227 had Fontan palliation, and 789 had repaired tetralogy of Fallot. We depict the 30-year evolution of these 6 patient cohorts, analyze survival probabilities in adulthood, and predict future number of deaths through 2029. Since 1980, there has been a steady increase in numbers of patients followed, except in cohorts with Eisenmenger syndrome and unrepaired cyanotic defects. Between 1980 and 2009, 308 patients in the study cohorts (19%) died. At the end of 2009, 85% of survivors were younger than 50 years. Survival estimates for all cohorts were markedly lower than for the general population, with important differences between cohorts. Over the upcoming two decades, we predict a substantial increase in numbers of deaths among young adults with subaortic right ventricles, Fontan palliation, and repaired tetralogy of Fallot. Anticipatory action is needed to prepare clinical services for increasing numbers of young adults at risk of dying from complex congenital heart disease. © 2014 The Authors. Congenital Heart Disease Published by Wiley Periodicals, Inc.

  7. Pattern and clinical profile of children with complex cardiac anomaly ...

    African Journals Online (AJOL)

    ... DORV (double outlet right ventricle) with left sided aorta, hypoplastic tricuspid valve with a PDA (patent ductus artriosus), TOF (tetralogy of fallot), prolapse of aortic valve, and pulmonary regurgitation. One of these complex cardiac anomalies presented with Turner's syndrome and another with VACTERAL association.

  8. Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly.

    Science.gov (United States)

    Thottam, Prasad John; Bathula, Samba S; Poulik, Janet M; Madgy, David N

    2014-01-01

    Branchial cleft anomalies make up 30% of all pediatric neck masses, but complete second branchial cleft anomalies are extremely rare. We report an unusual case of a complete second branchial cleft anomaly that presented as a draining neck fistula and a tonsillar cyst in an otherwise healthy 3-month-old girl. At the age of 7 months, the patient had been experiencing feeding difficulties, and there was increasing concern about the risk of persistent infections. At that point, the anomaly was excised in its entirety. Our suspicion that the patient had a complete second branchial cleft anomaly was confirmed by imaging, surgical excision, and histopathologic analysis.

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

    Science.gov (United States)

    Thomeer, Henricus; Kunst, Henricus; Verbist, Berit; Cremers, Cor

    2012-07-01

    To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. Retrospective chart study. Tertiary referral center. A tertiary referral center study with a total of 14 patients with congenital minor ear anomalies as part of a consecutive series (n = 89) who underwent exploratory tympanotomies (15 ears). Audiometric results. In 8 of 15 ears, ossicular reconstruction was attempted. In the short term (1 mo), there was a serviceable hearing outcome (air-bone gap closure to within 25 dB) in 4 ears. However, the long-term results showed deterioration because of an increased air-bone gap in all but 1 ear. No facial nerve lesion was observed postoperatively. Congenital dysplasia or aplasia of the oval and/or round window is an uncommon congenital minor ear anomaly. Classical microsurgical opportunities are rare in this group of anomalies. Newer options for hearing rehabilitation, such as the osseointegrated passive bone conduction devices, have become viable alternatives for conventional air conduction hearing devices. In the near future, upcoming active bone conduction devices might become the most preferred surgical option. In cases in which the facial nerve is only partially overlying the oval window, a type of malleostapedotomy procedure might result in a serviceable postoperative hearing level.

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

    Directory of Open Access Journals (Sweden)

    Esther Kai-Chieh Chen

    2014-07-01

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

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

    Directory of Open Access Journals (Sweden)

    Carolina Félix

    2017-01-01

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

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

    OpenAIRE

    Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Bar?y, Tuva; Holmgren, Asbj?rn; Stray-Pedersen, Asbj?rg; Bryceson, Yenan T.; Str?mme, Petter; Frengen, Eirik; Misceo, Doriana

    2016-01-01

    Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers w...

  13. Unusual Congenital Aortic Anomaly with Rare Common Celiamesenteric Trunk Variation: MR Angiography and Digital Substraction Angiography Findings

    International Nuclear Information System (INIS)

    Tosun, Ozgur; Sanlidilek, Umman; Cetin, Huseyin; Ozdemir, Ozcan; Kurt, Aydin; Sakarya, Mehmet Emin; Tas, Ismet

    2007-01-01

    Magnetic resonance angiography and digital substraction angiography (DSA) findings in a case with a rare congenital thoracoabdominal aortic hypoplasia and common celiamesenteric trunk variation with occlusion of infrarenal abdominal aorta are described here. To our knowledge, this aortic anomaly has not been previously described in the English literature. DSA is the optimum imaging modality for determination of aortic hypoplasia, associated vascular malformations, collateral vessels, and direction of flow within vessels

  14. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association.

    Science.gov (United States)

    Pini Prato, Alessio; Musso, Marco; Ceccherini, Isabella; Mattioli, Girolamo; Giunta, Camilla; Ghiggeri, Gian Marco; Jasonni, Vincenzo

    2009-03-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR). Based on the common genetic background of enteric nervous system and kidney development, the reported association of CAKUT and HSCR seems underestimated. Therefore, we designed a prospective study aimed at determining the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell line-derived neurotrophic factor (GDNF), and GDNF family receptor alpha1 (GFRalpha1) mutations or haplotypes associated with this subset of HSCR patients. Eighty-four HSCR patients consecutively admitted to our department between July 2006 and July 2007 underwent interviews, notes review, ultrasound screening (further investigation according to detected anomaly), urinalysis, and DNA extraction for molecular genetics study. Another 27 patients with isolated CAKUT were included as a control group for the molecular genetics study. Twenty-one patients (25%) with HSCR had associated CAKUT, with hydronephrosis and hypoplasia being the most frequent diagnoses. Nine of 21 CAKUT were symptomatic. Six additional patients had other non-CAKUT anomalies (for example, stones, Barter syndrome) that were excluded from association and molecular genetics analysis to avoid bias of inclusion criteria. RET mutations were found in 5 patients (4 HSCR, 1 HSCR + CAKUT, 0 CAKUT) and GDNF mutations in 3 (2 HSCR, 1 CAKUT, 0 HSCR + CAKUT). No GFRalpha1 mutations were found. Finally, the HSCR-predisposing T haplotype of RET proto-oncogene was found in 64% of HSCR, 50% of HSCR + CAKUT, and in 24% of CAKUT patients. The incidence of CAKUT in HSCR patients is 4- to 6-fold higher than expected. Therefore, a patient with HSCR has a 3- to 18-fold higher risk of developing a CAKUT, particularly hydronephrosis or hypoplasia. If we consider that the proportion of predisposing haplotype in HSCR + CAKUT patients resembles that of other syndromic HSCR, we can conclude that HSCR + CAKUT has to be considered

  15. A community-based survey of visible congenital anomalies in rural Tamil Nadu

    Science.gov (United States)

    Sridhar, K.

    2009-01-01

    An extensive community-based survey of visible congenital defects covering 12.8 million children in rural Tamil Nadu state was conducted during the years 2004–05. A door-to-door survey was done utilizing the existing health care delivery system. More than 10,000 village health nurses were involved to collect the data. All children between the ages of 0 and 15 years were seen. The children with defects were seen by a medical officer and diagnosis was made as per chart. A total of 1.30% of children were born with some visible anomalies. The male:female ratio was 1.3:1. There was a family history in 9% and consanguinity in 32%. More than 5% mothers had taken some medication in the first trimester of pregnancy out of which anti-convulsants were 3.4%. Facial clefts showed a lower incidence of 1 in 1976 live births with peak incidence between March and June. Cleft palate alone showed a higher percentage (30%) than other studies. PMID:19884674

  16. [Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina].

    Science.gov (United States)

    Campaña, Hebe; Pawluk, Mariela S; López Camelo, Jorge S

    2010-10-01

    The aim of the present work was to estimate the frequency of 27 birth defects in 7 geographical regions of Argentina. Observational, cross-sectional, descriptive design. A sample of 21,844 new born with birth defects was selected, ascertained from 855,220 births, between 1994 and 2007, in 59 hospitals belonging to the ECLAMC network. In order to identify regions of high frequency a Poisson regression was used, adjusted by different hospitals from the same region. The model included a time variable to detect secular trends and 6 dummy variables for 7 predefined geographical regions: Metropolitana (MET); Pampa (PAM); Centro (CEN); Cuyo (CUY); Noroeste (NOA); Nordeste (NEA) and Patagonia (PAT). High frequencies regional analysis showed the following significant results: PAM: severe hypospadias; CEN: spina bifida, microtia, cleft lip with cleft palate, polycystic kidney, postaxial polydactyly and Down syndrome; CUY: postaxial polydactyly; NOA: omphalocele, gastroschisis, cleft lip without cleft palate, cleft lip with cleft palate, anorectal atresia/stenosis, indeterminate sex, preaxial polydactyly and pectoral agenesis; PAT: cleft lip without cleft palate. Out of the 27 congenital anomalies analyzed, fourteen showed a frequency significatively higher in one or more regions.

  17. [Ultrasound and color Doppler applications in nephrology. The normal kidney: anatomy, vessels and congenital anomalies].

    Science.gov (United States)

    Meola, Mario; Petrucci, Ilaria; Giovannini, Lisa; Samoni, Sara; Dellafiore, Carolina

    2012-01-01

    Gray-scale ultrasound is the diagnostic technique of choice in patients with suspected or known renal disease. Knowledge of the normal and abnormal sonographic morphology of the kidney and urinary tract is essential for a successful diagnosis. Conventional sonography must always be complemented by Doppler sampling of the principal arterial and venous vessels. B-mode scanning is performed with the patient in supine, prone or side position. The kidney can be imaged by the anterior, lateral or posterior approach using coronal, transverse and oblique scanning planes. Morphological parameters that must be evaluated are the coronal diameter, the parenchymal thickness and echogenicity, the structure and state of the urinary tract, and the presence of congenital anomalies that may mimic a pseudomass. The main renal artery and the hilar-intraparenchymal branches of the arterial and venous vessels should be accurately evaluated using color Doppler. Measurement of intraparenchymal resistance indices (IP, IR) provides an indirect and quantitative parameter of the stiffness and eutrophic or dystrophic remodeling of the intrarenal microvasculature. These parameters differ depending on age, diabetic and hypertensive disease, chronic renal glomerular disease, and interstitial, vascular and obstructive nephropathy.

  18. Congenital anomalies, hereditary diseases of the pancreas, acute and chronic pancreatitis

    International Nuclear Information System (INIS)

    Brambs, Hans-Juergen; Juchems, Markus

    2011-01-01

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

  19. A community-based survey of visible congenital anomalies in rural Tamil Nadu

    Directory of Open Access Journals (Sweden)

    Sridhar K

    2009-10-01

    Full Text Available An extensive community-based survey of visible congenital defects covering 12.8 million children in rural Tamil Nadu state was conducted during the years 2004-05. A door-to-door survey was done utilizing the existing health care delivery system. More than 10,000 village health nurses were involved to collect the data. All children between the ages of 0 and 15 years were seen. The children with defects were seen by a medical officer and diagnosis was made as per chart. A total of 1.30% of children were born with some visible anomalies. The male:female ratio was 1.3:1. There was a family history in 9% and consanguinity in 32%. More than 5% mothers had taken some medication in the first trimester of pregnancy out of which anti-convulsants were 3.4%. Facial clefts showed a lower incidence of 1 in 1976 live births with peak incidence between March and June. Cleft palate alone showed a higher percentage (30% than other studies.

  20. Mortality of children under five and prevalence of newborn congenital anomalies in relation to macroeconomic and socioeconomic factors in Latvia.

    Science.gov (United States)

    Ebela, Inguna; Zile, Irisa; Zakis, Aleksandrs; Folkmanis, Valdis; Rumba-Rozenfelde, Ingrida

    2011-01-01

    Mortality of infants and children younger than 5 years is a globally recognized and broad national welfare indicator. Scientific literature has data on the correlation of mortality indicators with macroeconomic indicators. It is important to study the associations between prevalence and mortality indicators and socioeconomic factors, since deaths from congenital anomalies account for approximately 25%-30% of all deaths in infancy. The aim of the study was to analyze the overall trend in mortality of infants and young children aged 0 to 4 years in relation to macroeconomic factors in Latvia and prevalence of congenital anomalies in newborns in relation to socioeconomic factors. The Newborns' Register and Causes of Death Register were used as data sources; data on specific socioeconomic factors were retrieved from the Central Statistics Office. The results of the study show a strong correlation between mortality in children younger than 5 years and gross domestic product, as well as health budget in LVL per capita and the national unemployment level. The average decrease in infant mortality from congenital anomalies in Latvia was found to be 6.8 cases per 100,000 live births. There is a strong correlation between child mortality and socioeconomic situation in the country. There is a need to analyze the data on child mortality in a transnational context on a regular basis and studying the correlations between child mortality indicators and socioeconomic indicators and health care management parameters.

  1. Study of the Radial Peripapillary Capillary Network in Congenital Optic Disc Anomalies With Optical Coherence Tomography Angiography.

    Science.gov (United States)

    Cennamo, Gilda; Rossi, Claudia; Ruggiero, Pasquale; de Crecchio, Giuseppe; Cennamo, Giovanni

    2017-04-01

    To evaluate the radial peripapillary capillary network with optical coherence tomography angiography (angio-OCT) in morning glory syndrome (MGS), optic disc colobomas, and optic disc pits, and to explore possible correlations between the neural vascular structure and the pathogenesis of congenital optic disc anomalies. Prospective observational comparative case series. Fifteen eyes of 15 patients with congenital optic disc anomalies were enrolled in this study. All patients underwent angio-OCT. The scans were centered on optic discs. The mean age at presentation was 33 years (range: 19-50 years). Congenital optic disc anomalies were identified in all 15 eyes. Three eyes had the characteristic funduscopic signs of MGS, and angio-OCT scans of the peripapillary retina revealed a dense microvascular network. Optic disc colobomas were found in 5 eyes, and the characteristic funduscopic signs of optic pits were found in 7 eyes. Angio-OCT showed the absence of a radial peripapillary microvascular network in these 12 eyes. The finding that angio-OCT scans confirmed the presence of a peripapillary microvascular network only in MGS cases supports the hypothesis that a primary neuroectodermal abnormality and a secondary mesenchymal abnormality leads to MGS. Angio-OCT is a safe, rapid imaging technique that could shed light on the pathogenesis of rare diseases of the optic disc. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Anomalies

    International Nuclear Information System (INIS)

    Bardeen, W.A.

    1985-08-01

    Anomalies have a diverse impact on many aspects of physical phenomena. The role of anomalies in determining physical structure from the amplitude for π 0 decay to the foundations of superstring theory will be reviewed. 36 refs

  3. Congenital anomalies of the coronary arteries: imaging with contrast-enhanced, multidetector computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Schmitt, Rainer; Froehner, Steffen; Wagner, Matthias; Brunner, Horst; Cherevatyy, Oleg; Christopoulos, Georgios [Herz- und Gefaessklinik GmbH, Department of Radiology, Bad Neustadt an der Saale (Germany); Brunn, Juergen; Gietzen, Frank; Kerber, Sebastian [Herz- und Gefaessklinik GmbH, Department of Cardiology, Bad Neustadt an der Saale (Germany); Fellner, Franz [Oberoesterreichische Landesnervenklinik, Department of Radiology, Linz (Austria)

    2005-06-01

    The objective of this study is to evaluate multidetector CT (MDCT) in detecting and characterizing anomalous coronary arteries. Forty-four patients with anomalies of the coronaries were selected from a total of 1758 individuals examined with ECG-gated 4- and 16-row MDCT including thin MIP, MPR and VRT post-processing. Twenty-eight patients showed origin and course anomalies of the central coronary segments, and in this subgroup 13 were judged as ''malignant'' because of interarterial courses between the aortic root and the pulmonary trunk, either of the right coronary artery (n=11) or the left coronary artery (n=2). Twelve non-hemodynamic anomalies were found, affecting the coronary origins only (n=10) or the peripheral vessels courses (n=2). Four arteriovenous fistulas were present, all of them with complex arterial feeders. Regardless of vessel anatomy, coronary opacification was always possible by means of the systemic contrast agent, and the aberrant coronary arteries were visualized synoptically in direct relation to the great mediastinal vessels. In contrast to MDCT, selective cannulation and final diagnosis was possible in only 11 of the 20 catheter angiograms performed (accuracy of 55.0%). In conclusion, its non-invasiveness and precise visualization makes MDCT the standard of reference for evaluating anomalous coronary arteries. (orig.)

  4. A population-based case-control study of drinking-water nitrate and congenital anomalies using Geographic Information Systems (GIS) to develop individual-level exposure estimates.

    Science.gov (United States)

    Holtby, Caitlin E; Guernsey, Judith R; Allen, Alexander C; Vanleeuwen, John A; Allen, Victoria M; Gordon, Robert J

    2014-02-05

    Animal studies and epidemiological evidence suggest an association between prenatal exposure to drinking water with elevated nitrate (NO3-N) concentrations and incidence of congenital anomalies. This study used Geographic Information Systems (GIS) to derive individual-level prenatal drinking-water nitrate exposure estimates from measured nitrate concentrations from 140 temporally monitored private wells and 6 municipal water supplies. Cases of major congenital anomalies in Kings County, Nova Scotia, Canada, between 1988 and 2006 were selected from province-wide population-based perinatal surveillance databases and matched to controls from the same databases. Unconditional multivariable logistic regression was performed to test for an association between drinking-water nitrate exposure and congenital anomalies after adjusting for clinically relevant risk factors. Employing all nitrate data there was a trend toward increased risk of congenital anomalies for increased nitrate exposure levels though this was not statistically significant. After stratification of the data by conception before or after folic acid supplementation, an increased risk of congenital anomalies for nitrate exposure of 1.5-5.56 mg/L (2.44; 1.05-5.66) and a trend toward increased risk for >5.56 mg/L (2.25; 0.92-5.52) was found. Though the study is likely underpowered, these results suggest that drinking-water nitrate exposure may contribute to increased risk of congenital anomalies at levels below the current Canadian maximum allowable concentration.

  5. A Population-Based Case-Control Study of Drinking-Water Nitrate and Congenital Anomalies Using Geographic Information Systems (GIS) to Develop Individual-Level Exposure Estimates

    Science.gov (United States)

    Holtby, Caitlin E.; Guernsey, Judith R.; Allen, Alexander C.; VanLeeuwen, John A.; Allen, Victoria M.; Gordon, Robert J.

    2014-01-01

    Animal studies and epidemiological evidence suggest an association between prenatal exposure to drinking water with elevated nitrate (NO3-N) concentrations and incidence of congenital anomalies. This study used Geographic Information Systems (GIS) to derive individual-level prenatal drinking-water nitrate exposure estimates from measured nitrate concentrations from 140 temporally monitored private wells and 6 municipal water supplies. Cases of major congenital anomalies in Kings County, Nova Scotia, Canada, between 1988 and 2006 were selected from province-wide population-based perinatal surveillance databases and matched to controls from the same databases. Unconditional multivariable logistic regression was performed to test for an association between drinking-water nitrate exposure and congenital anomalies after adjusting for clinically relevant risk factors. Employing all nitrate data there was a trend toward increased risk of congenital anomalies for increased nitrate exposure levels though this was not statistically significant. After stratification of the data by conception before or after folic acid supplementation, an increased risk of congenital anomalies for nitrate exposure of 1.5–5.56 mg/L (2.44; 1.05–5.66) and a trend toward increased risk for >5.56 mg/L (2.25; 0.92–5.52) was found. Though the study is likely underpowered, these results suggest that drinking-water nitrate exposure may contribute to increased risk of congenital anomalies at levels below the current Canadian maximum allowable concentration. PMID:24503976

  6. Preliminary MRI study in patients with congenital complex strabismus

    International Nuclear Information System (INIS)

    Man Fengyuan; Wang Zhenchang; Zhao Bo; Zhu Lei; Xian Junfang; Wang Shijun; Jiao Yonghong; Wu Xiao; Zhao Kanxing

    2009-01-01

    Objective: Although the ocular motility examination has been traditionally used in the diagnosis of complex strabismus resulting from cranial nerve (CN) and extraocular muscles (EOM) abnormalities, magnetic resonance imaging (MRI) now permits the direct imaging of lesions in CNs and EOMs. Methods: Twenty-six patients with complex strabismus underwent MRI examination on 1.5 T MR unit (Twinspeed, GE). Nerves to EOMs were imaged with T 1 weighted in orbits in all patients using phase array surface coils. Results: Patients with Duane syndrome (15 cases, 19 eyes) all exhibited absence or hypoplasia of abducens nerve (CN6), always with mild hypoplasia and apparent misdirection of oculomotor nerve (CN3) to the lateral rectus muscle in the orbit, and there were no hypoplasia of EOMs. Patients with congenital fibrosis of EOMs (9 cases, 16 eyes) exhibited severe hypoplasia of CN3 and CN6, and EOMs appeared hypoptasia to a different degree, particularly severe for the superior rectus and levated palpted muscles. Multiple nerves displayed aplasia in patients with Mobius syndrome (1 ease, 2 eyes) and there was abnormal branch from CN3 to lateral rectus. The tendons of bilateral superior oblique muscles were thin in the patients with Brown syndrome (1 case, 2 eyes). Conclusion: MRI can directly demonstrate absence or hypoplasia of CNs and corresponding EOM abnormalities in congenital complex strabismus, which suggests that the mechanism of congenital complex strabismus is perhaps abnormal innervation or displasia of the ocular motor nerves. (authors)

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

    Science.gov (United States)

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

    2014-10-01

    An accessory penis is a very rare anomaly. Only five cases have been reported thus far to our knowledge. We present the case of a child aged 2 years and 10 months who had a penis-like structure (containing phallus and glans) attached to the right buttock. Associated anomalies were a non-communicating type of colonic duplication, a paramedian stenosed anal opening, a horse-shoe kidney, posterior urethral valves, scoliosis of the lumbo-sacral spine, polydactyly and equino-varus deformity of the right foot. As far as we can tell, this is the first report of an accessory penis associated with colonic duplication and other congenital anomalies. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  8. Omphalocele, exstrophy of bladder, imperforate anus and spinal defect complex with genital anomalies in a late preterm infant

    Directory of Open Access Journals (Sweden)

    Faisal Othman Al-Qurashi

    2017-01-01

    Full Text Available Omphalocele, exstrophy of the bladder, imperforate anus and spinal defect (OEIS complex is a rare congenital multisystemic malformation representing unique anomalies. It was first reported in 1978 through a series of cases with an abnormality of body wall development. We are reporting a case of an infant of 36 weeks gestation, with a family history of consanguinity and oral contraceptive pill intake that was discontinued when the mother was 1-month pregnant. The neonatal examination revealed findings that were consistent with OEIS complex along with the presence of genital anomalies. The infant required multi-staged surgical intervention. We conclude that this case report might illustrate some of the possible risk factors and variability of OEIS complex.

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

    International Nuclear Information System (INIS)

    Karakis, Isabella; Landau, Daniella; Yitshak-Sade, Maayan; Hershkovitz, Reli; Rotenberg, Michal; Sarov, Batia; Grotto, Itamar; Novack, Lena

    2015-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-06-01

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

  11. Congenital coronary artery anomalies: a bridge from embryology to anatomy and pathophysiology--a position statement of the development, anatomy, and pathology ESC Working Group

    NARCIS (Netherlands)

    Pérez-Pomares, José María; de la Pompa, José Luis; Franco, Diego; Henderson, Deborah; Ho, Siew Yen; Houyel, Lucile; Kelly, Robert G.; Sedmera, David; Sheppard, Mary; Sperling, Silke; Thiene, Gaetano; van den Hoff, Maurice; Basso, Cristina

    2016-01-01

    Congenital coronary artery anomalies are of major significance in clinical cardiology and cardiac surgery due to their association with myocardial ischaemia and sudden death. Such anomalies are detectable by imaging modalities and, according to various definitions, their prevalence ranges from 0.21

  12. A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

    Science.gov (United States)

    Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

    2016-01-01

    Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

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

    Science.gov (United States)

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

    2015-01-20

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

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

    Science.gov (United States)

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

    2017-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Debasish Saha

    2015-01-01

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

  16. Mutations in SOX17 are Associated with Congenital Anomalies of the Kidney and the Urinary Tract

    Science.gov (United States)

    Gimelli, Stefania; Caridi, Gianluca; Beri, Silvana; McCracken, Kyle; Bocciardi, Renata; Zordan, Paola; Dagnino, Monica; Fiorio, Patrizia; Murer, Luisa; Benetti, Elisa; Zuffardi, Orsetta; Giorda, Roberto; Wells, James M; Gimelli, Giorgio; Ghiggeri, Gian Marco

    2010-01-01

    Congenital anomalies of the kidney and the urinary tract (CAKUT) represent a major source of morbidity and mortality in children. Several factors (PAX, SOX,WNT, RET, GDFN, and others) play critical roles during the differentiation process that leads to the formation of nephron epithelia. We have identified mutations in SOX17, an HMG-box transcription factor and Wnt signaling antagonist, in eight patients with CAKUT (seven vesico-ureteric reflux, one pelvic obstruction). One mutation, c.775T>A (p.Y259N), recurred in six patients. Four cases derived from two small families; renal scars with urinary infection represented the main symptom at presentation in all but two patients. Transfection studies indicated a 5–10-fold increase in the levels of the mutant protein relative to wild-type SOX17 in transfected kidney cells. Moreover we observed a corresponding increase in the ability of SOX17 p.Y259N to inhibit Wnt/β-catenin transcriptional activity, which is known to regulate multiple stages of kidney and urinary tract development. In conclusion, SOX17 p.Y259N mutation is recurrent in patients with CAKUT. Our data shows that this mutation correlates with an inappropriate accumulation of SOX17-p.Y259N protein and inhibition of the β-catenin/Wnt signaling pathway. These data indicate a role of SOX17 in human kidney and urinary tract development and implicate the SOX17–p.Y259N mutation as a causative factor in CAKUT. Hum Mutat 31:1352–1359, 2010. © 2010 Wiley-Liss, Inc. PMID:20960469

  17. Adult congenital cardiopathy: percutaneous treatment of a complex case

    International Nuclear Information System (INIS)

    Suarez N, Alberto; Carvajal, Andres; Bustillo, Sabas

    2008-01-01

    Adult congenital cardiopathy is a clinical entity difficult to treat and diagnose. Since 1982 endovascular therapy changed its approach radically (1) and in the last years the design of new appliances and better balloon catheters facilitated the implementation of therapy to a greater number of patients (2). It is the election treatment for entities such as pulmonary valve stenosis (3), atrial septal defect (4) and persistent ductus arteriosus. We present the case of complex adult congenital cardiopathy that consisted of wide atrial septal defect,pulmonary valve stenosis with severe repercussion on the right ventricle, persistent PDA with severe calcification and pulmonary arterial hypertension and systemic essential arterial hypertension that were successfully treated through interventionist endovascular therapy in the Hospital Militar Central, in Bogota.

  18. Evaluation of athletes with complex congenital heart disease.

    Science.gov (United States)

    Bates, Benjamin A; Richards, Camille; Hall, Michael; Kerut, Edmund K; Campbell, William; McMullan, Michael R

    2017-06-01

    As a result of improvements in congenital heart surgery, there are more adults alive today with congenital heart disease (CHD) than children. Individuals with cardiac birth defects may be able to participate in physical activities but require proper cardiovascular evaluation. The American Heart Association and American College of Cardiology released guidelines in 2015 for athletes with cardiovascular abnormalities. The guidelines express that although restriction from competitive athletics may be indicated for some, the majority of individuals with CHD can and should engage in some form of physical activity. This case study demonstrates the importance of combining all aspects of history, physical examination, ECG, and imaging modalities to evaluate cardiac anatomy and function in young athletes with complex CHD. © 2017, Wiley Periodicals, Inc.

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

    Science.gov (United States)

    2018-03-21

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

  20. The Association of Ambient Air Pollution and Traffic Exposures With Selected Congenital Anomalies in the San Joaquin Valley of California

    Science.gov (United States)

    Padula, Amy M.; Tager, Ira B.; Carmichael, Suzan L.; Hammond, S. Katharine; Lurmann, Frederick; Shaw, Gary M.

    2013-01-01

    Congenital anomalies are a leading cause of infant mortality and are important contributors to subsequent morbidity. Studies suggest associations between environmental contaminants and some anomalies, although evidence is limited. We aimed to investigate whether ambient air pollutant and traffic exposures in early gestation contribute to the risk of selected congenital anomalies in the San Joaquin Valley of California, 1997–2006. Seven exposures and 5 outcomes were included for a total of 35 investigated associations. We observed increased odds of neural tube defects when comparing the highest with the lowest quartile of exposure for several pollutants after adjusting for maternal race/ethnicity, education, and multivitamin use. The adjusted odds ratio for neural tube defects among those with the highest carbon monoxide exposure was 1.9 (95% confidence interval: 1.1, 3.2) compared with those with the lowest exposure, and there was a monotonic exposure-response across quartiles. The highest quartile of nitrogen oxide exposure was associated with neural tube defects (adjusted odds ratio = 1.8, 95% confidence interval: 1.1, 2.8). The adjusted odds ratio for the highest quartile of nitrogen dioxide exposure was 1.7 (95% confidence interval: 1.1, 2.7). Ozone was associated with decreased odds of neural tube defects. Our results extend the limited body of evidence regarding air pollution exposure and adverse birth outcomes. PMID:23538941

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

    Directory of Open Access Journals (Sweden)

    Yu-Sheng Lee

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

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

    Science.gov (United States)

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

    2015-10-01

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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Debangshu Ghosh

    2015-01-01

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

  5. Congenital agenesis of unilateral parotid gland with ipsilateral type I first branchial cleft anomaly: A rare presentation

    OpenAIRE

    Tripti Maithani; Apoorva Pandey; Seema Acharya

    2014-01-01

    Aim: To report a rare case of unilateral parotid agenesis with ipsilateral type I first branchial cleft anomaly. Material and methods: A case study with special emphasis on the embryology, outlining the complex developmental process of parotid and branchial arches and highlighting the probable reason for development of such anomalies. Results: The literature states that unilateral parotid agenesis is a rare entity with few reported cases occurring solely or in conjunction with other hea...

  6. 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

  7. Tracheal quadrifurcation associated with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

    2015-08-15

    Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

  8. Pacing and Defibrillators in Complex Congenital Heart Disease

    Science.gov (United States)

    Chubb, Henry; O’Neill, Mark; Rosenthal, Eric

    2016-01-01

    Device therapy in the complex congenital heart disease (CHD) population is a challenging field. There is a myriad of devices available, but none designed specifically for the CHD patient group, and a scarcity of prospective studies to guide best practice. Baseline cardiac anatomy, prior surgical and interventional procedures, existing tachyarrhythmias and the requirement for future intervention all play a substantial role in decision making. For both pacing systems and implantable cardioverter defibrillators, numerous factors impact on the merits of system location (endovascular versus non-endovascular), lead positioning, device selection and device programming. For those with Fontan circulation and following the atrial switch procedure there are also very specific considerations regarding access and potential complications. This review discusses the published guidelines, device indications and the best available evidence for guidance of device implantation in the complex CHD population. PMID:27403295

  9. Using multidetector-row CT in neonates with complex congenital heart disease to replace diagnostic cardiac catheterization for anatomical investigation: initial experiences in technical and clinical feasibility

    International Nuclear Information System (INIS)

    Lee, Tain; Tsai, I.C.; Chen, Min-Chi; Fu, Yun-Ching; Jan, Sheng-Lin; Wang, Chung-Chi; Chang, Yen

    2006-01-01

    Echocardiography is the first-line modality for the investigation of neonatal congenital heart disease. Diagnostic cardiac catheterization, which has a small but recognized risk, is usually performed if echocardiography fails to provide a confident evaluation of the lesions. To verify the technical and clinical feasibilities of replacing diagnostic cardiac catheterization with multidetector-row CT (MDCT) in neonatal complex congenital heart disease. Over a 1-year period we prospectively enrolled all neonates with complex congenital heart disease referred for diagnostic cardiac catheterization after initial assessment by echocardiography. MDCT was performed using a 40-detector-row CT scanner with dual syringe injection. A multidisciplinary congenital heart disease team evaluated the MDCT images and decided if further diagnostic cardiac catheterization was necessary. The accuracy of MDCT in detecting separate cardiovascular anomalies and bolus geometry of contrast enhancement were calculated. A total of 14 neonates were included in the study. No further diagnostic cardiac catheterization was needed in any neonate. The accuracy of MDCT in diagnosing separate cardiovascular anomalies was 98% (53/54) with only one atrial septal defect missed in a patient with coarctation syndrome. The average cardiovascular enhancement in evaluated chambers was 471 HU. No obvious beam-hardening artefact was observed. The technical and clinical feasibility of MDCT in complex congenital heart disease in neonates is confirmed. After initial assessment with echocardiography, MDCT could probably replace diagnostic cardiac catheterization for further anatomical clarification in neonates. (orig.)

  10. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies(,)

    NARCIS (Netherlands)

    Grimbizis, G.F.; Gordts, S.; Di Spiezio Sardo, A.; Brucker, S.; De Angelis, C.; Gergolet, M.; Li, T.C.; Tanos, V.; Brölmann, H.A.M.; Gianaroli, L.; Campo, R.

    2013-01-01

    STUDY QUESTIONWhat classification system is more suitable for the accurate, clear, simple and related to the clinical management categorization of female genital anomalies?SUMMARY ANSWERThe new ESHRE/ESGE classification system of female genital anomalies is presented.WHAT IS KNOWN ALREADYCongenital

  11. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

    Science.gov (United States)

    Kletke, S; Batmanabane, V; Dai, T; Vincent, A; Li, S; Gordon, K A; Papsin, B C; Cushing, S L; Héon, E

    2017-07-01

    The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having USH. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was performed to determine the ocular phenotype. All the cases had undergone ocular examination and electroretinogram (ERG). Patients with an abnormal ERG underwent genetic testing for USH. We found an underlying ocular abnormality in 81.81% (27/33) of cases; of which 75% had refractive errors, and 50% of those patients showed visual improvement with refractive correction. A total of 14 cases (42.42%; 14/33) had generalized rod-cone dysfunction on ERG suggestive of Usher syndrome type 1, confirmed by mutational analysis. This work shows that adding vestibular impairment as a criterion for requesting an eye exam and adding the ERG to detect USH increases the chances of detecting ocular anomalies, when compared with previous literature focusing only on congenital SNHL. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

    Directory of Open Access Journals (Sweden)

    Catherine Yang

    2013-07-01

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

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

    International Nuclear Information System (INIS)

    Yang, Catherine; Trad, Clovis Simao; Trad, Henrique Simao

    2013-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-06-15

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-09-15

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

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

    Directory of Open Access Journals (Sweden)

    Hamdan Malak

    2011-09-01

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

  17. Decision-making on terminating pregnancy for Muslim Arab women pregnant with fetuses with congenital anomalies: maternal affect and doctor-patient communication.

    Science.gov (United States)

    Gesser-Edelsburg, Anat; Shahbari, Nour Abed Elhadi

    2017-04-04

    This study focused on decision-making on terminating pregnancy for Arab Muslim women in Israel who were pregnant with fetuses diagnosed with congenital anomalies. It examined the impact of the doctor-patient interaction on the women's decision, especially in light of social and religious pressures not to terminate under any circumstances. Our goal was to identify perceptions and attitudes of Muslim Arab women who choose to continue their pregnancy following the detection of congenital anomalies in prenatal tests. Specific objectives included (1) To examine the Muslim Arab women's perceptions on genetic testing, and ascertain the reasons for their decision to continue the pregnancy following the detection of a congenital anomaly in the fetus; and (2) To examine risk communication of gynecologists regarding genetic testing and abortions, and regarding the decision of continuing or terminating a pregnancy following detection of a congenital anomaly. The research framework used the constructivist classical qualitative method to understand the experience of women at high risk for congenital anomalies and their experience of how doctors communicate the risk. It showed that the emotional element is no less dominant than religious and social elements. The findings emphasized the disparities between doctors and women regarding emotional involvement (non-directive counselling). The women interviewees (N = 24) felt that this expressed insensitivity. As far as we know, the emotional component has not been raised in previous studies of Muslim women at high risk for congenital defects in their fetus, and therefore comprises a significant contribution of the present study. To mitigate gaps, doctors should take affect into consideration in their communication with patients. It is important for doctors to understand the emotional element in risk communication, both in how they respect women's emotions and in creating an emotional interaction between themselves and the women.

  18. Employment characteristics of a complex adult congenital heart disease cohort.

    Science.gov (United States)

    Pickup, L; Gaffey, T; Clift, P; Bowater, S; Thorne, S; Hudsmith, L

    2017-08-01

    Due to advances in surgical techniques and subsequent management, there have been remarkable improvements in the survival of patients with congenital heart disease. In particular, larger numbers of patients with complex disease are now living into adulthood and are entering the workforce. To establish the types of employment complex adult congenital heart disease (ACHD) patients are engaged in, based on the largest cohort of patients with a single-ventricle circulation in the UK. Records of all patients with a univentricular (Fontan) circulation at the Queen Elizabeth Hospital were reviewed. Employment status was categorized according to the Standard Occupational Classification criteria (2010). A total of 210 patient records were reviewed. There was the same proportion of professionals in our cohort compared to the rest of the UK (20% versus 20%). There were greater proportions working in the caring, leisure and other service occupations (15% versus 9%), the elementary occupations (17% versus 11%), sales and customer service occupations (14% versus 8%) and administrative and secretarial occupations (12% versus 11%). The reverse trend was observed for associate professions and technical occupations (7% versus 14%), skilled trades (10% versus 11%), process, plant and machine operatives (3% versus 6%) and managers, directors and senior officials (2% versus 10%). The data show that ACHD patients with a single ventricle are engaged in a diverse range of occupations. It is essential that early education and employment advice are given to this cohort to maximize future employment potential. © The Author 2017. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  19. Infant temperament and parental stress in 3-month-old infants after surgery for complex congenital heart disease.

    Science.gov (United States)

    Torowicz, Deborah; Irving, Sharon Y; Hanlon, Alexandra L; Sumpter, Danica F; Medoff-Cooper, Barbara

    2010-04-01

    This study aimed to identify and compare differences in temperament and maternal stress between infants with complex congenital heart disease and healthy controls at 3 months of age. Study sample was drawn from an existing longitudinal study examining growth in infants with congenital heart disease when compared with healthy controls. Infant temperament and parental stress were measured in 129 mother-infant dyads. Inclusion criteria for infants with congenital heart disease were > or = 36-week postmenstrual age, > or = 2500 g at birth, surgery in first 6 weeks of life, and no major congenital anomalies or genetic syndromes. The Early Infancy Temperament Questionnaire and Parent Stress Index were the assessment tools used. Infants with single ventricular (SV) physiology were more negative in mood (F = 7.14, p parenting an irritable infant with SV physiology put these mothers at risk for high levels of stress. Results suggest the need for predischarge anticipatory guidance for parents to better understand and respond to the behavioral style of their infants, in particular, infants with SV physiology.

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

    NARCIS (Netherlands)

    Dellicour, Stephanie; Desai, Meghna; Mason, Linda; Odidi, Beatrice; Aol, George; Phillips-Howard, Penelope A.; Laserson, Kayla F.; ter Kuile, Feiko O.

    2013-01-01

    Understanding the socio-cultural context and perceptions of adverse pregnancy outcomes is important for informing the best approaches for public health programs. This article describes the perceptions, beliefs and health-seeking behaviours of women from rural western Kenya regarding congenital

  1. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias

    NARCIS (Netherlands)

    Oostra, R. J.; Baljet, B.; Dijkstra, P. F.; Hennekam, R. C.

    1998-01-01

    The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than five thousand specimens of human and animal anatomy, embryology, pathology, and congenital

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

    Directory of Open Access Journals (Sweden)

    Devalina Goswami

    2015-01-01

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

  3. Gastric serosal tear due to congenital pyloric atresia: A rare anomaly ...

    African Journals Online (AJOL)

    Congenital pyloric atresia (CPA) is a very rare malformation with unknown aetiology. It has has numerous complications including gastric perforation, aspiration pneumonia. Gastric perforations in newborns occur by three mechanisms: trauma, ischaemia, or spontaneous. Here, we report a newborn with CPA presenting with ...

  4. Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies

    NARCIS (Netherlands)

    Eshuis-Peters, Ellis; Versluys, Anne Brigitta; Stokman, Marijn Fijke; van der Crabben, Saskia Nanette; Nij Bijvank, Sebastiaan W A; van Wezel-Meijler, Gerda

    Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria,

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

    DEFF Research Database (Denmark)

    Wemakor, Anthony; Casson, Karen; Garne, Ester

    2015-01-01

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

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

    Science.gov (United States)

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

    2016-11-01

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

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

    International Nuclear Information System (INIS)

    Gerety, E.L.; Hopper, M.A.; Grant, I.

    2015-01-01

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

  8. N-Terminal Pro-B-Type Natriuretic Peptide and Phonocardiography in Differentiating Innocent Cardiac Murmurs from Congenital Cardiac Anomalies in Asymptomatic Puppies

    NARCIS (Netherlands)

    Marinus, S M; Engelen, H.G.H.; Szatmári, V.

    2017-01-01

    Background: Differentiating innocent cardiac murmurs from murmurs caused by congenital cardiac anomalies can be challenging with auscultation alone in asymptomatic puppies. Hypothesis: Plasma N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentrations and phonocardiograms recorded by an

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-12-19

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

  10. Vertebral stabilization using positively threaded profile pins and polymethylmethacrylate, with or without laminectomy, for spinal canal stenosis and vertebral instability caused by congenital thoracic vertebral anomalies.

    Science.gov (United States)

    Aikawa, Takeshi; Kanazono, Shinichi; Yoshigae, Yuki; Sharp, Nicholas J H; Muñana, Karen R

    2007-07-01

    To describe diagnostic findings, surgical technique, and outcome in dogs with thoracic spinal canal stenosis and vertebral instability secondary to congenital vertebral anomalies. Retrospective clinical study. Dogs (n=9) with thoracic spinal canal stenosis. Medical records (1995-1996; 2000-2006) of 9 dogs with a myelographic diagnosis of spinal canal stenosis and/or vertebral instability secondary to congenital vertebral anomaly that were surgically managed by vertebral stabilization with or without laminectomy were reviewed. Data on pre- and postoperative neurologic status, diagnostic findings, surgical techniques, and outcomes were retrieved. Follow-up evaluations were performed at 1, 2, and 6 months. Long-term outcome was assessed by means of clinical examination or owner telephone interviews. Spinal cord compression was confirmed by myelography, and in 2 dogs, dynamic compression by stress myelography. Eight dogs regained the ability to ambulate postoperatively. One dog with a partial recovery regained voluntary movement but did not become ambulatory. Spinal cord injury secondary to congenital vertebral anomaly may have a good outcome when treated by vertebral stabilization with or without laminectomy. Adequate stabilization of the vertebrae and improved neurologic outcome were achieved in most dogs. Vertebral stabilization using positively threaded profile pins and polymethylmethacrylate with or without laminectomy is an effective treatment for spinal canal stenosis and vertebral instability secondary to congenital thoracic vertebral anomalies.

  11. Adaptation to the Birth of a Child with a Congenital Anomaly: A Prospective Longitudinal Study of Maternal Well-Being and Psychological Distress

    Science.gov (United States)

    Nes, Ragnhild B.; Røysamb, Espen; Hauge, Lars J.; Kornstad, Tom; Landolt, Markus A.; Irgens, Lorentz M.; Eskedal, Leif; Kristensen, Petter; Vollrath, Margarete E.

    2014-01-01

    This study explores the stability and change in maternal life satisfaction and psychological distress following the birth of a child with a congenital anomaly using 5 assessments from the Norwegian Mother and Child Cohort Study collected from Pregnancy Week 17 to 36 months postpartum. Participating mothers were divided into those having infants…

  12. European recommendations for primary prevention of congenital anomalies: A joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans

    DEFF Research Database (Denmark)

    Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca

    2014-01-01

    Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention t...

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

    Science.gov (United States)

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

    2006-09-01

    European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe surveying more than 1 million births per year, or 25% of the births in the European Union. This paper describes the potential of the EUROCAT collaboration for pharmacoepidemiology and drug safety surveillance. The 34 full members and 6 associate members of the EUROCAT network were sent a questionnaire about their data sources on drug exposure and on drug coding. Available data on drug exposure during the first trimester available in the central EUROCAT database for the years 1996-2000 was summarised for 15 out of 25 responding full members. Of the 40 registries, 29 returned questionnaires (25 full and 4 associate members). Four of these registries do not collect data on maternal drug use. Of the full members, 15 registries use the EUROCAT drug code, 4 use the international ATC drug code, 3 registries use another coding system and 7 use a combination of these coding systems. Obstetric records are the most frequently used sources of drug information for the registries, followed by interviews with the mother. Only one registry uses pharmacy data. Percentages of cases with drug exposure (excluding vitamins/minerals) varied from 4.4% to 26.0% among different registries. The categories of drugs recorded varied widely between registries. Practices vary widely between registries regarding recording drug exposure information. EUROCAT has the potential to be an effective collaborative framework to contribute to post-marketing drug surveillance in relation to teratogenic effects, but work is needed to implement ATC drug coding more widely, and to diversify the sources of information used to determine drug exposure in each registry.

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

    DEFF Research Database (Denmark)

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

    2016-01-01

    of LMP, separately and together, odds ratios with 95% confidence intervals (ORs, 95%CI) for all major anomalies were estimated. We also explored: pausing or discontinuing SSRIs preconception, confounding, high dose regimens, and, in Wales, diagnosis of depression. Results were combined in meta...... of anomalies and severe CHD was reduced when SSRI prescriptions were stopped or paused preconception, and increased when >1 prescription was recorded, but differences were not statistically significant. The dose-response relationship between severe CHD and SSRI dose (meta-regression OR 1.49, 1...... importance, justifying modifications to preconception care....

  15. The use of intravenous digital subtraction angiography in evaluating patients with complex congenital heart disease

    International Nuclear Information System (INIS)

    Moodie, D.S.

    1986-01-01

    The author previously described his experience in 450 patients with congenital heart disease using intravenous digital subtraction angiography (DSA) to define cardiac anatomy. He has been impressed by the utility of DSA in the evaluation of patients with congenital heart disease. It is now an integral part of his clinical practice to perform intravenous DSA studies both pre- and postoperatively on an inpatient as well as outpatient basis. This chapter details his DSA experience with complex forms of congenital heart disease

  16. Anaesthetic management of a child with "cor-triatriatum" and multiple ventricular septal defects - A rare congenital anomaly

    Directory of Open Access Journals (Sweden)

    Sriram Sabade

    2010-01-01

    Full Text Available Cor-triatriatum is a rare congenital cardiac anomaly. It accounts for 0.1% of congenital heart diseases. Its association with multiple ventricular septal defects (VSD is even rarer. A five-month-old baby was admitted with respiratory distress and failure to thrive. Clinical examination revealed diastolic murmur over mitral area. Chest X-ray showed cardiomegaly. Haematological and biochemical investigations were within normal limits. Electrocardiogram showed left atrial enlargement. 2D echo showed double-chambered left atrium (cor-triatriatum, atrial septal defect (ASD and muscular VSD with moderate pulmonary arterial hypertension. The child was treated with 100% oxygen, diuretics and digoxin and was stabilized medically. We used balanced anaesthetic technique using oxygen, air, isoflurane, fentanyl, midazolam and vecuronium. Patient was operated under cardiopulmonary bypass (CPB with moderate hypothermia. Through right atriotomy abnormal membrane in the left atrium was excised to make one chamber. VSD were closed with Dacron patches and ASD was closed with autologous pericardial patch. Patient tolerated the whole procedure well and was ventilated electively for 12h in the intensive care unit. He was discharged on the 10 th postoperative day.

  17. Asymmetry and discordance for congenital anomalies in conjoined twins: a report of six cases.

    Science.gov (United States)

    Ornoy, A; Navot, D; Menashi, M; Laufer, N; Chemke, J

    1980-10-01

    Six pairs of conjoined twins have been studied. The first case was a pair of 13-week-old omphalopagus fetuses. One was a holoacradius amorphus and the other had rachischisis and anencephaly. The second case was a pair of omphalopagus twins. One of the twins was macerated and corresponded to a developmental age of 13-14 weeks, while the other was developed to 28-30 weeks of gestation and exhibited urogenital and gastrointestinal defects not found in the smaller twin. In the third case, that of a thoracoomphalopagus, one had cleft lip and palate, pulmonic stenosis, and atresia of the ileocecal valve, while the other did not show these anomalies. In the fourth cae, also omphalopagus twins, one had a lumbosacral meningomyelocele and severe gastrointestinal and urogenital anomalies not found in the second twin. The fifth case was a pair of thoracoomphalopagus twins, sharing a common heart with asymmetrical anomalies. The sixth case was a diprosopus anencephalic conjoined twin. The first pairs of conjoined twins were discordant for several abnormalities in nonshared organs, in addition to having abnormalities of the conjoined organs. It seems that discordance in conjoined twins is not a rare finding. The factors that play a role in discordance of anomalies in conjoined twins are probably similar to the factors in monozygotic twins--i.e., environmental, genetic, and abnormal placental and/or fetal circulation.

  18. MR findings of congenital craniocerebral anomaly: correlation with seizures and development delay

    International Nuclear Information System (INIS)

    Ko, Seog Wan; Seo, Jeong Jin; Kim, Yun Hyeon; Yoon, Jong Hun; Kim, Hyun Ju; Kim, Hyeong Kil; Kang, Heoung Keun; Chung, Hyon De

    1995-01-01

    To evaluate characteristic MR findings of craniocerebral anomaly and its relationship with neurologic manifestations. We retrospectively reviewed MR images of 36 patients with craniocerebral anomaly diagnosed by MRI and clinical courses. We correlated the characteristic MR findings in 41 lesions with neurologic manifestations focusing on seizures and developmental delay. Twenty-three patients with seizures consisted of 14 patients(60%) with neuronal migration disorders and seven(30%) with phakomatosis, among which 18 patients(78%) had generalized type of seizures. Locations of the lesions were the parietal lobes in 11 patients(52%) and the subependymal or periventricular regions in seven(33%). Two patients with tuberous sclerosis had the lesions in both parietal and subependymal areas. Nine patients had the signs of developmental delay that were seen in the four(44%) with schizencephaly, two (22%) with tuberous sclerosis, two(22%) with heterotopia, and noe(11%) with pachygyria. Neuronal migration anomaly was relatively common lesion that presented neurologic festations such as seizures and developmental delay. Generalized type of seizures were common. We were able to diagnose these anomalies using the MRI that helped establish therapeutic plans

  19. Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report.

    Science.gov (United States)

    Ríos-Méndez, Raúl Enrique; Lozano Chinga, Michell Marola

    2016-10-07

    Clinical congenital anophthalmia is described as the uni- or bilateral absence of the eyeball that might occur in isolation or as part of a syndrome. It has a very low prevalence and its etiology is heterogeneous. Complex congenital cardiac malformations are also rare. The association of congenital anophthalmia and congenital heart disease is rarer still, and the etiology of those associations is not well understood yet. We report the case of a patient who had the very rare association of bilateral anophthalmia, multiple cardiac malformations and severe pulmonary hypertension.

  20. A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.

    Science.gov (United States)

    Aleksiūnienė, Beata; Preiksaitiene, Egle; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas

    2018-01-01

    Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features. © 2018 S. Karger AG, Basel.

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

    Directory of Open Access Journals (Sweden)

    Pallavi Aga

    2010-12-01

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

  2. Risk factors for congenital anomalies in high risk pregnant women: A ...

    African Journals Online (AJOL)

    The major CAs observed were Central Nervous System (CNS) followed by renal anomalies. Maternal age (≤25 years, OR =1.42, p= 0.002), paternal age (<30 years, OR =1.51, p< 0.001), consanguinity (OR =1.39, p= 0.012) and primi gravida (OR= 3.40, p<0.001) were identified as risk factors for HRP women with fetal CAs ...

  3. Congenital anomalies of the inferior vena cava: importance of multiplanar imaging methods: an iconographic essay; Anomalias congenitas da veia cava inferior: valor dos metodos multiplanares em seu diagnostico - ensaio iconografico

    Energy Technology Data Exchange (ETDEWEB)

    Viana, Sergio Lopes; Mendonca, Jose Luiz Furtado de; Freitas, Flavia Mendes Oliveira [Clinica Radiologica Vila Rica, Brasilia, DF (Brazil)] (and others). E-mail: radiolog@uol.com.br

    2006-10-15

    The inferior vena cava is the result of a complex embryologic process which takes place between 6 and 8 weeks of intra-uterine life. Several variations can occur during this process, and a defective embryogenesis of this vessel may lead to the development of anatomic variants. Although many of these variants are asymptomatic, the radiologist should be aware of them and of the potential medico-legal issues involved, especially in cases in which abdominal surgery or hemodynamic procedures are contemplated. In this paper, the major congenital anomalies involving the inferior vena cava are reviewed under the form of a pictorial essay, highlighting the role of the multiplanar imaging methods (volumetric computed tomography and magnetic resonance imaging) in their diagnosis. Keywords: Congenital variations; Inferior vena cava; Renal veins; Computed tomography; Magnetic resonance imaging. author)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2016-01-15

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

  5. MDCT angiography of the major congenital anomalies of the extracranial arteries: pictorial review

    International Nuclear Information System (INIS)

    Saade, Charbel; Bourne, Roger; Brennan, Patrick C.; Wilkinson, Mark

    2013-01-01

    Multidetector computed tomographic angiography is becoming the modality of choice for evaluation of the supra-aortic circulation in acute stroke imaging. Variations of the supra-aortic circulation, in particular of the extracranial arteries, are common. This article aims to provide a pictorial description of the variant anatomy of the aortic arch and extracranial arteries. Knowledge of the presence and clinical relevance of normal variants such as anomalies, duplications and embryological persistence plays a clinically relevant role in the diagnosis and management of neurological and surgical conditions, particularly as we enter an era of increasing extracranial intervention.

  6. Radiocolloid scintigraphy as an aid to the diagnosis of congenital portacaval anomalies in the dog

    International Nuclear Information System (INIS)

    Hornof, W.J.; Koblik, P.D.; Breznock, E.M.

    1983-01-01

    Five clinically normal dogs and 5 dogs in which portacaval anomalies were diagnosed angiographically were utilized to evaluate differences in the appearance of the radiocolloid liver scan between the 2 groups. The liver was clearly visualized in all dogs, allowing subjective evaluation of size. In the dogs with portacaval shunts, scintigraphy revealed an obviously small liver as well as pulmonary uptake of radiocolloid. The utility of this technique was then tested in a group of dogs with liver disease and was shown to be of value in differentiating dogs with primary portacaval shunts from other types of liver disease

  7. The two domain hypothesis of limb prepattern and its relevance to congenital limb anomalies.

    Science.gov (United States)

    Tao, Hirotaka; Kawakami, Yasuhiko; Hui, Chi-Chung; Hopyan, Sevan

    2017-07-01

    Functional annotation of mutations that cause human limb anomalies is enabled by basic developmental studies. In this study, we focus on the prepatterning stage of limb development and discuss a recent model that proposes anterior and posterior domains of the early limb bud generate two halves of the future skeleton. By comparing phenotypes in humans with those in model organisms, we evaluate whether this prepatterning concept helps to annotate human disease alleles. WIREs Dev Biol 2017, 6:e270. doi: 10.1002/wdev.270 For further resources related to this article, please visit the WIREs website. © 2017 Wiley Periodicals, Inc.

  8. Searching for Complex Patterns Using Disjunctive Anomaly Detection

    OpenAIRE

    Sabhnani, Maheshkumar; Dubrawski, Artur; Schneider, Jeff

    2013-01-01

    Objective Disjunctive anomaly detection (DAD) algorithm [1] can efficiently search across multidimensional biosurveillance data to find multiple simultaneously occurring (in time) and overlapping (across different data dimensions) anomalous clusters. We introduce extensions of DAD to handle rich cluster interactions and diverse data distributions. Introduction Modern biosurveillance data contains thousands of unique time series defined across various categorical dimensions (zipcode, age group...

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

    Directory of Open Access Journals (Sweden)

    Xiang Li

    2015-06-01

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

  10. The use of stereolithographic hand held models for evaluation of congenital anomalies of the great arteries.

    Science.gov (United States)

    Vranicar, Mark; Gregory, William; Douglas, William I; Di Sessa, Peter; Di Sessa, Thomas G

    2008-01-01

    Imaging anomalies of the great vessels has traditionally been accomplished using conventional biplane modalities as well as three-dimensional (3D) video displays. Our aim was to review the use of stereolithography to create 3D models to assess coarctation of the aorta and vascular rings. Twelve patients had high-resolution CT scans to evaluate anomalies of the great arteries (coarctation: 9, vascular ring: 3). Ages were 19 days to 29 years and weights were 3.3 to 139 kg. Digital dicom data from each scan were converted by a commercially available software package into a 3D digital image. The area of interest was selected and the image was exported to a 3D stereolithographic printer to create a 3D model. The models were then evaluated and the results compared to catheterization and surgical findings. All models accurately displayed the pathology investigated. All 3 of the vascular ring models correlated with surgical findings (double arch: 2, pulmonary sling: 1). Models of aortic coarctation allowed clear depictions of discrete narrowing as well as arch hypoplasia and tortuosity. Stereolithography can create realistic 3D models that accurately display aortic pathology and add important additional information, which may have implications regarding surgical and transcatheter interventions and may also be useful teaching tools for parents and students.

  11. Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

    OpenAIRE

    Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

    2013-01-01

    Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surg...

  12. Complex congenital heart malformation evaluated with MR imaging at 0.3 T

    International Nuclear Information System (INIS)

    Malmgren, N.; Hochbergs, P.; Holmqvist, C.; Sandstroem, S.; Laurin, S.; Bjoerkhem, G.

    1996-01-01

    The aim of this study was to evaluate the efficiency of MR imaging at 0.3 T as the single modality in diagnosing complex congenital heart disease (CHD). Films from 45 cases were reviewed in two stages by four specialists and one fellow in pediatric radiology, who were unfamiliar with the patients. First a general review of CHD diagnosis was made, then a detailed study of anomalous venous return was performed. Regarding the general diagnosis of cardiovascular anomalies the results were good, with sensitivity of 80%, specificity of 96%, a positive predictive value of 88%, a negative predictive value of 93% and accuracy of 92%. As expected, the less experienced reviewer had somewhat lower figures. As for detailed evaluation of the anomalous veins, the diagnostic results were again good (sensitivity 85%), although less so when also the connection sites of the anomalous veins were considered (sensitivity 79%). The specificity of the findings was high at 97%. MR imaging at 0.3 T is valuable in the diagnosis of comples CHD, especially for anomalous vessels and their connections. (orig.)

  13. Techniques for small-bone lengthening in congenital anomalies of the hand and foot.

    Science.gov (United States)

    Minguella, J; Cabrera, M; Escolá, J

    2001-10-01

    The purpose of this study is to analyse three different lengthening techniques used in 31 small bones for congenital malformations of the hand and foot: 15 metacarpals, 12 metatarsals, 1 foot stump and 3 spaces between a previously transplanted phalanx end of the carpus or the metacarpal. Progressive lengthening with an external fixator device was performed in 23 cases: the callus distraction (callotasis) technique was used in 15 cases, whereas in the other 8 cases the speed of lengthening was faster and the defect bridged with a bone graft as a second stage. In another eight cases, a one-stage lengthening was performed. In the callotasis group, the total length gained ranged from 9 mm to 30 mm and the percentage of lengthening obtained (compared with the initial bone length) averaged 53.4%; in the fast lengthening group, the length gained ranged from 8 mm to 15 mm, and the average percentage of lengthening was 53.1%; and in the one-stage group, the length gained ranged from 7 mm to 15 mm, and the average percentage of lengthening was 43%. The overall complication rate was 22.5%.

  14. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

    Science.gov (United States)

    Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

    2003-11-01

    Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

  15. Parental psychological distress and quality of life after a prenatal or postnatal diagnosis of congenital anomaly: a controlled comparison study with parents of healthy infants.

    Science.gov (United States)

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

    2012-04-01

    Parental early adjustment to a prenatal or postnatal diagnosis of congenital anomaly has been studied mainly within a pathological and deterministic perspective, giving us an inadequate view of the impact of the diagnosis. Adopting a comprehensive approach on parental adjustment, we aimed to characterise the impact of the diagnosis on psychological distress and quality of life, in the early postdiagnosis stage. The effects of gender and the timing of the diagnosis were also examined. In this cross-sectional study, 42 couples with healthy infants and 42 couples whose infants were prenatal or postnatally diagnosed with a congenital anomaly responded to the Brief Symptom Inventory-18 and to the World Health Organization Quality of Life-Brief instrument. In the early postdiagnosis stage, parents whose infants were diagnosed with a congenital anomaly presented higher levels of psychological distress than did the parents of healthy infants (F(2,79) = 6.23, p = .003), although they displayed similar levels of quality of life (F(4,78) = 0.62, p = .647). Mothers reported more adjustment difficulties than fathers in both groups. Receiving the diagnosis in the prenatal period was associated with higher maternal psychological quality of life (Z = -2.00, p = .045). The occurrence of a diagnosis of congenital anomaly during the transition to parenthood adds to an accumulation of stress-inducing events and manifests itself in psychopathological symptoms. Maintaining a positive evaluation of well-being may be understood as a parental resource to deal with the diagnosis. The importance of adopting a comprehensive perspective on parental adjustment is highlighted. Copyright © 2012 Elsevier Inc. All rights reserved.

  16. Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies.

    Directory of Open Access Journals (Sweden)

    Aizati N A Daud

    Full Text Available A number of transporter proteins are expressed in the placenta, and they facilitate the placental transfer of drugs. The inhibition of P-glycoprotein (P-gp was previously found to be associated with an increase in the risk of congenital anomalies caused by drug substrates of this transporter. We now explore the role of other placental transporter proteins.A population-based case-referent study was performed using cases with congenital anomalies (N = 5,131 from EUROCAT Northern Netherlands, a registry of congenital anomalies. The referent population (N = 31,055 was selected from the pregnancy IADB.nl, a pharmacy prescription database.Ten placental transporters known to have comparable expression levels in the placenta to that of P-gp, were selected in this study. In total, 147 drugs were identified to be substrates, inhibitors or inducers, of these transporters. Fifty-eight of these drugs were used by at least one mother in our cases or referent population, and 28 were used in both. The highest user rate was observed for the substrates of multidrug resistance-associated protein 1, mainly folic acid (6% of cases, 8% of referents, and breast cancer resistance protein, mainly nitrofurantoin (2.3% of cases, 2.9% of referents. In contrast to P-gp, drug interactions involving substrates of these transporters did not have a significant effect on the risk of congenital anomalies.Some of the drugs which are substrates or inhibitors of placental transporters were commonly used during pregnancy. No significant effect of transporter inhibition was found on fetal drug exposure, possibly due to a limited number of exposures.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-06-15

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

  18. Parents' perceptions of counselling following prenatal diagnosis of congenital anomalies of the kidney and urinary tract: a qualitative study.

    Science.gov (United States)

    Marokakis, Sarah; Kasparian, Nadine A; Kennedy, Sean E

    2017-03-01

    To explore parents' experiences of counselling after prenatal diagnosis of congenital anomalies of the kidney and urinary tract. Parents of a child born between September 2012 and March 2015 with posterior urethral valves (PUV) or multicystic dysplastic kidney (MCDK) completed a semi-structured telephone interview, demographic survey, and the 21-item self-report Depression, Anxiety and Stress Scales questionnaire. Qualitative data were analysed thematically using NVivo10 software. In all, 17 parents (PUV, eight; MCDK, nine) participated (response rate 40%), and most were offered counselling during pregnancy (14/17). Parents described feelings of shock, fear and uncertainty after diagnosis, and desired early information on all aspects of their child's condition. Most participants were satisfied with the information received; however, unmet information needs relating to treatment and prognosis were identified, particularly amongst fathers and parents in the PUV group. Some parents felt relieved after counselling (12/17); however, emotional distress often persisted long after diagnosis. Parents described a need for written and web-based information resources, specialised psychological services, and parent support groups. While parents valued counselling, many continued to report unmet informational and psychological needs. Early counselling addressing topics important to parents and provision of additional resources and support services may improve parents' adjustment to their baby's diagnosis. © 2016 The Authors BJU International © 2016 BJU International Published by John Wiley & Sons Ltd.

  19. Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

    Science.gov (United States)

    Novo-Filho, Gil M; Montenegro, Marília M; Zanardo, Évelin A; Dutra, Roberta L; Dias, Alexandre T; Piazzon, Flavia B; Costa, Taís V M M; Nascimento, Amom M; Honjo, Rachel S; Kim, Chong A; Kulikowski, Leslie D

    2016-01-01

    The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14.3%), including 8 patients with subtelomeric deletions at 4p/4q (53.3%). Additional genomic changes were observed at 1p36, 2q37.3, 5p15.3, 5q35.3, 8p23.3, 13q11, 14q32.3, 15q11.2, and Xq28/Yq12. This indicates the prevalence of independent deletions at 4p/4q, involving PIGG, TRIML2, and FRG1. Furthermore, we identified 15 genes with changes in copy number that contribute to neurological development and/or function, among them CRMP1, SORCS2, SLC25A4, and HELT. Our results highlight the association of genes with changes in copy number at 4p and 4q subtelomeric regions and the DD phenotype. Cytogenomic characterization of additional cases with distal deletions should help clarifying the role of subtelomeric CNVs in neurological diseases. © 2016 S. Karger AG, Basel.

  20. Unilateral fixation for treatment of occipitocervical instability in children with congenital vertebral anomalies of the craniocervical junction.

    Science.gov (United States)

    Mazur, Marcus D; Ravindra, Vijay M; Brockmeyer, Douglas L

    2015-04-01

    OBJECT Patients with occipitocervical (OC) instability from congenital vertebral anomalies (CVAs) of the craniocervical junction (CCJ) often have bony abnormalities that make instrumentation placement difficult. Within this patient population, some bilateral instrumentation constructs either fail or are not feasible, and a unilateral construct must be used. The authors describe the surgical management and outcomes of this disorder in patients in whom unilateral fixation constructs were used to treat OC instability. METHODS From a database of OC fusion procedures, the authors identified patients who underwent unilateral fixation for the management of OC instability. Patient characteristics, surgical details, and radiographic outcomes were reviewed. In each patient, CT scans were performed at least 4 months after surgery to evaluate for fusion. RESULTS Eight patients with CVAs of the CCJ underwent unilateral fixation for the treatment of OC instability. For 4 patients, the procedure occurred after a bilateral OC construct failed or infection forced hardware removal. For the remainder, it was the primary procedure. Two patients required reoperation for hardware revision and 1 developed nonunion requiring revision of the bone graft. Ultimately, 7 patients demonstrated osseous fusion on CT scans and 1 had a stable fibrous union. CONCLUSIONS These findings demonstrate that a unilateral OC fixation is effective for the treatment of OC instability in children with CVAs of the CCJ in whom bilateral screw placement fails or is not feasible.

  1. Echocardiographic evaluation of simple versus complex congenital heart disease in a tertiary care Paediatrics Hospital

    OpenAIRE

    Uttam Kumar Sarkar; Anish Chatterjee; Suprit Basu; Atanu Pan; Sumit Periwal

    2017-01-01

    Background & Objectives:Congenital heart diseases are treatable either by catheter based intervention or open heart surgery according to their quality. In our study we aim to analyze congenital heart disease echocardiographically into simple versus complex heart disease at a tertiary care centre with a public health planning and policy making perspective.Materials & Methods:This hospital based study was done on 1010 patients, both from in-patient and out-patient, who were clinically s...

  2. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

    The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

  3. Understanding the physiology of complex congenital heart disease using cardiac magnetic resonance imaging

    International Nuclear Information System (INIS)

    Kappanayil, Mahesh; Kannan, Rajesh; Kumar, Raman Krishna

    2011-01-01

    Complex congenital heart diseases are often associated with complex alterations in hemodynamics. Understanding these key hemodynamic changes is critical to making management decisions including surgery and postoperative management. Existing tools for imaging and hemodynamic assessment like echocardiography, computed tomography and cardiac catheterization have inherent limitations. Cardiac magnetic resonance imaging (MRI) is emerging as a powerful bouquet of tools that allow not only excellent imaging, but also a unique insight into hemodynamics. This article introduces the reader to cardiac MRI and its utility through the clinical example of a child with a complex congenital cyanotic heart disease

  4. Diagnostic value and clinical problems of MR imaging in congenital anomalies of the central nervous system, 1

    International Nuclear Information System (INIS)

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

    1987-01-01

    Various forms of cerebral dysgenesis were studied by means of MR Imaging (MRI) in order to determine the diagnostic efficacy of MRI in comparison with conventional diagnostic procedures. All subjects have been diagnosed during the last 16 months at the National Kagawa Children's Hospital with conventional methods and then referred to MRI study at the Shinsuma Hospital, where a MRI system of a regular-conducting magnet operating at a field strength of 1.5 KG (Picker International Corp., U.S.A.) has been installed. Using the two-dimensional Fourier transform technique, three radiofrequency pulse sequences; inversion recovery: IR 2100/500, and spin-echo: SE 2100/40 or 2100/80, were routinely applied. Compared with X-ray CT, MR proved to be advantageous in the more precise detection of the pathoanatomical relation and in providing information about the myelinating process. The analysis of the myelinating process by MRI in such cerebral dysgeneses as lissencephaly, frontal-lobe dysgenesis, agenesis of the corpus callosum, and microcephalic hydrocephalus was very important for the detection of further functional cerebral developments. The pathoanatomical analysis by MRI, in particular with the midline sagittal view, is extremely advantageous in the diagnosis of Chiari malformation, holoprosencephaly, the Dandy-Walker syndrome, congenital dermal sinus, syringobulbia, and others. The disadvantages or weak points of MRI were also identified in this study. The CSF dynamics in both the major and minor fluid pathways as analyzed by metrizamide CT cisternography or ventriculography is much superior to the information revealed by MRI, although the SE technique can demonstrate some fluid distribution in the brain parenchyma and a different signal intensity in the fluid movements. The information about the bony structure in dysraphic states and calcifications in associated anomalies was also poor. (J.P.N.)

  5. [Relationship between Work Ⅱ type of congenital first branchial cleft anomaly and facial nerve and surgical strategies].

    Science.gov (United States)

    Zhang, B; Chen, L S; Huang, S L; Liang, L; Gong, X X; Wu, P N; Zhang, S Y; Luo, X N; Zhan, J D; Sheng, X L; Lu, Z M

    2017-10-07

    Objective: To investigate the relationship between Work Ⅱ type of congenital first branchial cleft anomaly (CFBCA) and facial nerve and discuss surgical strategies. Methods: Retrospective analysis of 37 patients with CFBCA who were treated from May 2005 to September 2016. Among 37 cases with CFBCA, 12 males and 25 females; 24 in the left and 13 in the right; the age at diagnosis was from 1 to 76 ( years, with a median age of 20, 24 cases with age of 18 years or less and 13 with age more than 18 years; duration of disease ranged from 1 to 10 years (median of 6 years); 4 cases were recurren after fistula resection. According to the classification of Olsen, all 37 cases were non-cyst (sinus or fistula). External fistula located over the mandibular angle in 28 (75.7%) cases and below the angle in 9 (24.3%) cases. Results: Surgeries were performed successfully in all the 37 cases. It was found that lesions located at anterior of the facial nerve in 13 (35.1%) cases, coursed between the branches in 3 cases (8.1%), and lied in the deep of the facial nerve in 21 (56.8%) cases. CFBCA in female with external fistula below mandibular angle and membranous band was more likely to lie deep of the facial nerve than in male with external fistula over the mandibular angle but without myringeal web. Conclusions: CFBCA in female patients with a external fistula located below the mandibular angle, non-cyst of Olsen or a myringeal web is more likely to lie deep of the facial nerve. Surgeons should particularly take care of the protection of facial nerve in these patients, if necessary, facial nerve monitoring technology can be used during surgery to complete resection of lesions.

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

    Science.gov (United States)

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

    2016-05-01

    Interkinetic nuclear migration (INM) is a phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium, which is characterized by the presence of apical primary cilia, in synchrony with the cell cycle in a manner of apical mitosis. INM is suggested to regulate not only stem/progenitor cell proliferation/differentiation but also organ size and shape. INM has been reported in epithelia of both ectoderm and endoderm origin. We examined whether INM exists in the mesoderm-derived ureteric epithelium. At embryonic day (E) 11.5, E12.5 and E13.5, C57BL/6J mouse dams were injected with 5-bromo-2'-deoxyuridine (BrdU) and embryos were killed 1, 2, 4, 6, 8, 10 and 12 h later. We immunostained transverse sections of the ureter for BrdU, and measured the position of BrdU (+) nuclei in the ureteric epithelia along the apico-basal axis at each time point. We analyzed the distribution patterns of BrdU (+) nuclei in histograms using the multidimensional scaling. Changes in the nucleus distribution patterns suggested nucleus movement characteristic of INM in the ureteric epithelia, and the mode of INM varied throughout the ureter development. While apical primary cilia are related with INM by providing a centrosome for the apical mitosis, congenital anomalies of the kidney and urinary tract (CAKUT) include syndromes linked to primary ciliary dysfunction affecting epithelial tubular organs such as kidney, ureter, and brain. The present study showed that INM exists in the ureteric epithelium and suggests that INM may be related with the CAKUT etiology via primary ciliary protein function. © 2015 Japanese Teratology Society.

  7. Clinicians’ perspectives of parental decision-making following diagnosis of a severe congenital anomaly: a qualitative study

    Science.gov (United States)

    Lotto, Robyn; Smith, Lucy K; Armstrong, Natalie

    2017-01-01

    Objective To explore clinicians’ perspectives on supporting parents’ decision-making following diagnosis of a severe congenital anomaly, and how this is shaped by current policy. Methods This paper reports data collated as part of a larger project examining parents’ decision-making following antenatal diagnosis. The focus of this paper is the data arising from semistructured interviews conducted with 18 clinicians, with findings further supported by data generated from consultations between clinicians and parents. All interviews and consultations were audio-recorded and transcribed verbatim, with analysis based on the constant comparative approach. Results Three key themes emerged which together shape the practice of clinicians working in this area: first, the law governing termination of pregnancy (TOP) and how clinicians believe this influences the context in which decisions about whether to terminate or continue an affected pregnancy are made; second, approaches to the management of cases seen as particularly challenging; and third, how clinicians understand their role when working with parents. These themes combine to create a strong desire on the part of clinicians for parents to engage in a particular ‘rational’ form of decision-making and to be able to demonstrate the enactment of this. This is seen as important in order to ensure the ‘right’ decision has been reached and, particularly when the decision is to terminate, will withstand possible scrutiny. Conclusions The policy context in which these decisions are made strongly shapes how clinicians practise and what they want to see from the parents with whom they work. The ways in which they seek to overcome the difficulties in interpreting the law may result in variations in the offer of late TOP, both between and within units. This may inadvertently affect the options available to women least able to engage in this idealised form of decision-making. PMID:28588110

  8. Clinicians' perspectives of parental decision-making following diagnosis of a severe congenital anomaly: a qualitative study.

    Science.gov (United States)

    Lotto, Robyn; Smith, Lucy K; Armstrong, Natalie

    2017-06-06

    To explore clinicians' perspectives on supporting parents' decision-making following diagnosis of a severe congenital anomaly, and how this is shaped by current policy. This paper reports data collated as part of a larger project examining parents' decision-making following antenatal diagnosis. The focus of this paper is the data arising from semistructured interviews conducted with 18 clinicians, with findings further supported by data generated from consultations between clinicians and parents. All interviews and consultations were audio-recorded and transcribed verbatim, with analysis based on the constant comparative approach. Three key themes emerged which together shape the practice of clinicians working in this area: first, the law governing termination of pregnancy (TOP) and how clinicians believe this influences the context in which decisions about whether to terminate or continue an affected pregnancy are made; second, approaches to the management of cases seen as particularly challenging; and third, how clinicians understand their role when working with parents. These themes combine to create a strong desire on the part of clinicians for parents to engage in a particular 'rational' form of decision-making and to be able to demonstrate the enactment of this. This is seen as important in order to ensure the 'right' decision has been reached and, particularly when the decision is to terminate, will withstand possible scrutiny. The policy context in which these decisions are made strongly shapes how clinicians practise and what they want to see from the parents with whom they work. The ways in which they seek to overcome the difficulties in interpreting the law may result in variations in the offer of late TOP, both between and within units. This may inadvertently affect the options available to women least able to engage in this idealised form of decision-making. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article

  9. Dental Anomalies: An Update

    Directory of Open Access Journals (Sweden)

    Fatemeh Jahanimoghadam

    2016-01-01

    Full Text Available Dental anomalies are usual congenital malformation that can happen either as isolated findings or as a part of a syndrome. Developmental anomalies influencing the morphology exists in both deciduous and permanent dentition and shows different forms such as gemination, fusion, concrescence, dilaceration, dens evaginatus (DE, enamel pearls, taurodontism or peg-shaped laterals. All These anomalies have clinical significance concerning aesthetics, malocclusion and more necessary preparing of the development of dental decays and oral diseases. Through a search in PubMed, Google, Scopus and Medline, a total of eighty original research papers during 1928-2016 were found with the keywords such as dental anomaly, syndrome, tooth and hypodontia. One hundred review titles were identified, eighty reviews were retrieved that were finally included as being relevant and of sufficient quality. In this review, dental anomalies including gemination, fusion, concrescence, dilaceration, dens invaginatus, DE, taurodontism, enamel pearls, fluorosis, peg-shaped laterals, dentinal dysplasia, regional odontodysplasia and hypodontia are discussed. Diagnosing dental abnormality needs a thorough evaluation of the patient, involving a medical, dental, familial and clinical history. Clinical examination and radiographic evaluation and in some of the cases, specific laboratory tests are also needed. Developmental dental anomalies require careful examination and treatment planning. Where one anomaly is present, clinicians should suspect that other anomalies may also be present. Moreover, careful clinical and radiographical examination is required. Furthermore, more complex cases need multidisciplinary planning and treatment.

  10. Congenital Abnormalities

    Science.gov (United States)

    ... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

  11. Surgical treatment for a complex congenital arteriovenous malformation of the lower limb.

    Science.gov (United States)

    Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

    2013-01-01

    Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surgery was successful without sequelae. The patient returned 2 years later with thrombosis of the great saphenous vein and underwent a second operation. The thrombosed vein and all varicosities were excised successfully. Surgery can be an effective method for correcting complex congenital arteriovenous malformations, especially in the lower limbs. A 2-staged surgical approach like ours might be a good option in suitable patients.

  12. Video-assisted functional assessment of index pollicisation in congenital anomalies.

    Science.gov (United States)

    Mas, Virginie; Ilharreborde, Brice; Mallet, Cindy; Mazda, Keyvan; Simon, Anne-Laure; Jehanno, Pascal

    2016-08-01

    Functional results of index pollicisation are usually assessed by the clinical score of Percival. This score is based on elementary hand movements and does not reflect the function of the neo thumb in daily life activities. The aim of this study was to develop a new video-assisted scoring system based on daily life activities to assess index pollicisation functional outcomes. Twenty-two consecutive children, operated between 1998 and 2012, were examined with a mean of 77 months after surgery. The mean age at surgery was 34 months. Post-operative results were evaluated by a new video-assisted 14-point scoring system consisting of seven basic tasks that are frequently used in daily activities. The series of tasks was performed both on the request of the examiner and in real-life conditions with the use of a hidden camera. Each video recording was examined by three different examiners. Each examiner rated the video recordings three times, with an interval of one week between examinations. Inter- and intra-observer agreements were calculated. Inter- and intra-observer agreements were excellent both on request (κ = 0.87 [0.84-0.97] for inter-observer agreement and 0.92 [0.82-0.98] for intra-observer agreement) and on hidden camera (κ = 0.83 [0.78-0.91] for inter-observer agreement and 0.89 [0.83-0.96] for intra-observer agreement). The results were significantly better on request than on hidden camera (p = 0.045). The correlation between the video-assisted scoring system and the Percival score was poor. The video-assisted scoring system is a reliable tool to assess index pollicisation functional outcomes. The scoring system on hidden camera is more representative of the neo thumb use in daily life complex movements. Level IV.

  13. Echocardiographic evaluation of simple versus complex congenital heart disease in a tertiary care Paediatrics Hospital

    Directory of Open Access Journals (Sweden)

    Uttam Kumar Sarkar

    2017-10-01

    Full Text Available Background & Objectives:Congenital heart diseases are treatable either by catheter based intervention or open heart surgery according to their quality. In our study we aim to analyze congenital heart disease echocardiographically into simple versus complex heart disease at a tertiary care centre with a public health planning and policy making perspective.Materials & Methods:This hospital based study was done on 1010 patients, both from in-patient and out-patient, who were clinically suspected to have heart disease from January 2015 to September 2016 at Dr.B.C.Roy P.G.I.P.S. Kolkata and echocardiographically categorized.Results:A VSD was the commonest acyanotic heart disease (17. 08%.Tetralogy of Fallot (TOF was commonest complex cyanotic heart disease (10.64%, VSD +ASD was the commonest combined lesion (8.12%. Simple heart lesions (63.1% were commoner than complex (36.9% congenital heart diseases.Conclusion:Health policy makers should give due care to manage Congenital Heart Disease either catheter based or surgically keeping in mind about 63.1% of the lesions are simple cardiac lesions and 36.9% lesions are complex cardiac lesion where complex surgery is required. 

  14. PTHrP-Related Hypercalcaemia in Infancy and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT

    Directory of Open Access Journals (Sweden)

    Nardeen Kodous

    2015-05-01

    Full Text Available Background: Severe hypercalcaemia is a rare but clinically significant condition in infancy and childhood. Parathyroid hormone-related peptide (PTHrP-mediated hypercalcaemia resulting from a malignancy is rare and only a handful of case reports have outlined its incidence alongside a benign condition. Objectives: To describe the diagnostic workup and management of an infant with hypercalcaemia, renal dysplasia, and elevated PTHrP levels. Design: Case report. Setting: The Victoria Hospital campus of the London Health Sciences Centre in London, Ontario, Canada. Patients: A child with congenital anomalies of the kidneys and urinary tract (CAKUT, stage 2 chronic kidney disease (CKD, and renal dysplasia who presented with severe hypercalcaemia. Measurements: Weight, renal ultrasound, creatinine, cystatin C, eGFR, calcium, urea, bicarbonate, serum sodium, fractional sodium excretion, urine calcium to creatinine ratio, PTH, TSH, Free T4, AM cortisol, HMA, VMA, 25-vitamin D, 1,25 dihydroxy-vitamin D, calcitriol, vitamin A, ACE levels, skull and chest x-rays, alkaline phosphatase, CBC, tumour lysis profile, catecholamine breakdown, whole-body MRI, PTHrP. Methods: Full diagnostic workup and patient management. Patient treated with intravenous hydration, furosemide, calcitonin and CalciLo. Results: PTHrP was elevated and no evidence of a malignancy was found. Treatment consisting of a low-calcium CalciLo diet (in place of breast milk adequately controlled the patient's hypercalcaemia. Hypercalcaemia associated with CAKUT in infancy is not all that uncommon and was reported in 15/99 infants in another study, most of whom had a suppressed PTH similar to that of our patient. PTHrP was not measured in these cases and may have also been elevated. Limitations: The study is limited in that it is a description of a single patient case. Future measurement of PTHrP in similar patients is necessary to confirm our results. Conclusions: The possibility of elevated PTHr

  15. Statistical methods for anomaly detection in the complex process; Methodes statistiques de detection d'anomalies de fonctionnement dans les processus complexes

    Energy Technology Data Exchange (ETDEWEB)

    Al Mouhamed, Mayez

    1977-09-15

    In a number of complex physical systems the accessible signals are often characterized by random fluctuations about a mean value. The fluctuations (signature) often transmit information about the state of the system that the mean value cannot predict. This study is undertaken to elaborate statistical methods of anomaly detection on the basis of signature analysis of the noise inherent in the process. The algorithm presented first learns the characteristics of normal operation of a complex process. Then it detects small deviations from the normal behavior. The algorithm can be implemented in a medium-sized computer for on line application. (author) [French] Dans de nombreux systemes physiques complexes les grandeurs accessibles a l'homme sont souvent caracterisees par des fluctuations aleatoires autour d'une valeur moyenne. Les fluctuations (signatures) transmettent souvent des informations sur l'etat du systeme que la valeur moyenne ne peut predire. Cette etude est entreprise pour elaborer des methodes statistiques de detection d'anomalies de fonctionnement sur la base de l'analyse des signatures contenues dans les signaux de bruit provenant du processus. L'algorithme presente est capable de: 1/ Apprendre les caracteristiques des operations normales dans un processus complexe. 2/ Detecter des petites deviations par rapport a la conduite normale du processus. L'algorithme peut etre implante sur un calculateur de taille moyenne pour les applications en ligne. (auteur)

  16. Leadless pacemaker implantation in a patient with complex congenital heart disease and limited vascular access

    Directory of Open Access Journals (Sweden)

    Paolo Ferrero

    2016-11-01

    Full Text Available Management of rhythm related issues might be particularly challenging in patients with congenital heart disease due to complex anatomy and restricted vascular access. The leadless technology appears a suitable and attractive alternative for this population. We describe a patient with single ventricle physiology who successfully underwent implantation of a leadless pacemaker.

  17. Left atrial isomerism associated with asplenia: prenatal echocardiographic detection of complex congenital cardiac malformations

    NARCIS (Netherlands)

    Stewart, P. A.; Becker, A. E.; Wladimiroff, J. W.; Essed, C. E.

    1984-01-01

    Complex congenital heart disease with suspected isomerism of the atria was diagnosed in two fetuses of 20 and 29 weeks' gestation using two-dimensional and M-mode scanning techniques. The first pregnancy was terminated at 21 weeks' gestation and stillbirth occurred at 31 weeks' gestation in the

  18. Individual Variation in the Late Positive Complex to Semantic Anomalies

    Science.gov (United States)

    Kos, Miriam; van den Brink, Danielle; Hagoort, Peter

    2012-01-01

    It is well-known that, within ERP paradigms of sentence processing, semantically anomalous words elicit N400 effects. Less clear, however, is what happens after the N400. In some cases N400 effects are followed by Late Positive Complexes (LPC), whereas in other cases such effects are lacking. We investigated several factors which could affect the LPC, such as contextual constraint, inter-individual variation, and working memory. Seventy-two participants read sentences containing a semantic manipulation (Whipped cream tastes sweet/anxious and creamy). Neither contextual constraint nor working memory correlated with the LPC. Inter-individual variation played a substantial role in the elicitation of the LPC with about half of the participants showing a negative response and the other half showing an LPC. This individual variation correlated with a syntactic ERP as well as an alternative semantic manipulation. In conclusion, our results show that inter-individual variation plays a large role in the elicitation of the LPC and this may account for the diversity in LPC findings in language research. PMID:22973249

  19. Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

    Directory of Open Access Journals (Sweden)

    Diana Bancin

    2015-03-01

    Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

  20. Cardiac fusion and complex congenital cardiac defects in thoracopagus twins: diagnostic value of cardiac CT

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [University of Ulsan College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology, Seoul (Korea, Republic of); Park, Jeong-Jun [University of Ulsan College of Medicine, Asan Medical Center, Department of Pediatric Cardiac Surgery, Seoul (Korea, Republic of); Kim, Ellen Ai-Rhan [University of Ulsan College of Medicine, Asan Medical Center, Division of Neonatology, Department of Pediatrics, Seoul (Korea, Republic of); Won, Hye-Sung [University of Ulsan College of Medicine, Asan Medical Center, Department of Obstetrics and Gynecology, Seoul (Korea, Republic of)

    2014-09-15

    Most thoracopagus twins present with cardiac fusion and associated congenital cardiac defects, and assessment of this anatomy is of critical importance in determining patient care and outcome. Cardiac CT with electrocardiographic triggering provides an accurate and quick morphological assessment of both intracardiac and extracardiac structures in newborns, making it the best imaging modality to assess thoracopagus twins during the neonatal period. In this case report, we highlight the diagnostic value of cardiac CT in thoracopagus twins with an interatrial channel and complex congenital cardiac defects. (orig.)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-09-15

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

  2. European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.

    Science.gov (United States)

    Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca; Barisic, Ingeborg; Bermejo-Sánchez, Eva; Bianchi, Fabrizio; Calzolari, Elisa; Carbone, Pietro; Curran, Rhonda; Garne, Ester; Gatt, Miriam; Latos-Bieleńska, Anna; Khoshnood, Babak; Irgens, Lorentz; Mantovani, Alberto; Martínez-Frías, Maria Luisa; Neville, Amanda; Rißmann, Anke; Ruggeri, Stefania; Wellesley, Diana; Dolk, Helen

    2014-01-01

    Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe. © 2014 S. Karger AG, Basel.

  3. Prevalence of Congenital Coronary Artery Anomalies and Variants in 2697 Consecutive Patients Using 64-Detector Row Coronary CTAngiography

    International Nuclear Information System (INIS)

    Shabestari, Abbas Arjmand; Akhlaghpoor, Shahram; Tayebivaljozi, Reza; Fattahi Masrour, Farzaneh

    2012-01-01

    Coronary artery anomalies are not common, but could be very serious. This study determines the frequency of coronary anomalies and normal variants by multi-detector-row computed tomography (MDCT). The results of cardiac MDCT study in 2697 consecutive patients were analyzed retrospectively. Acquisition was performed by a 64-detector row CT machine. Imaging results were assessed by experienced radiologists. Myocardial bridging was by far the most frequent coronary variant (n = 576, 21.3%). Eighty-three subjects (3.1%) showed other coronary anomalies and variants. Anomalies of origination and course of the left main coronary artery (LMCA) were detected in 1.09% of the subjects. The frequency of these anomalies in the right coronary artery (RCA), left circumflex artery (LCx), left anterior descending artery (LAD), posterior descending artery (PDA) and obtuse marginal (OM) artery were 1.24%, 0.33%, 0.1%, 0.07% and 0.03%, respectively. The single coronary pattern was seen in 0.18% and coronary fistulas in 0.07%. Based on the fact that coronary CT-angiography using MDCT can display different coronary anomalies, this study shows similar results to other reports on the subject. Future advances in the performance of CT machines will further improve the quality of CT-based cardiac imaging

  4. Morphological evaluation of complex congenital heart disease by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Takahashi, Osahiro

    1993-01-01

    Ninety infants and children with complex congenital heart disease were examined with magnetic resonance imaging and the accuracy of morphological diagnoses by MRI was tested by comparison to the final diagnoses primarily based on angiocardiography. The sensitivity and specificity of MRI diagnoses were generally excellent in evaluating vena caval and atrial morphology, type of AV connection, ventricular morphology, type of VA connection and great vessel morphology. Although some difficulty with evaluating the detailed anatomy of the AV valve and its suspension system and fine vascular structures, MRI could demonstrate the entire cardiac structures clearly and provide the 3-dimensional information regarding the intracardiac structures, and it was extremely valuable in morphological assessment of complex congenital heart disease. (author)

  5. Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I.

    Science.gov (United States)

    Moreadith, R W; Cleeter, M W; Ragan, C I; Batshaw, M L; Lehninger, A L

    1987-02-01

    Recently, we described a patient with severe lactic acidosis due to congenital complex I (NADH-ubiquinone oxidoreductase) deficiency. We now report further enzymatic and immunological characterizations. Both NADH and ferricyanide titrations of complex I activity (measured as NADH-ferricyanide reductase) were distinctly altered in the mitochondria from the patient's tissues. In addition, antisera against complex I immunoprecipitated NADH-ferricyanide reductase from the control but not the patient's mitochondria. However, immunoprecipitation and sodium dodecyl sulfate-polyacrylamide gel electrophoresis of complex I polypeptides demonstrated that the majority of the 25 polypeptides comprising complex I were present in the affected mitochondria. A more detailed analysis using subunit selective antisera against the main polypeptides of the iron-protein fragments of complex I revealed a selective absence of the 75- and 13-kD polypeptides. These findings suggest that the underlying basis for this patient's disease was a congenital deficiency of at least two polypeptides comprising the iron-protein fragment of complex I, which resulted in the inability to correctly assemble a functional enzyme complex.

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

    NARCIS (Netherlands)

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

    2012-01-01

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

  7. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

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

  8. Effects of eHealth physical activity encouragement in adolescents with complex congenital heart disease

    DEFF Research Database (Denmark)

    Klausen, Susanne Hwiid; Andersen, Lars L; Søndergaard, Lars

    2016-01-01

    OBJECTIVE: To assess benefit and harms of adding an eHealth intervention to health education and individual counseling in adolescents with congenital heart disease. DESIGN: Randomized clinical trial. SETTING: Denmark. PATIENTS: A total of 158 adolescents aged 13-16years with no physical activity...... restrictions after repaired complex congenital heart disease. INTERVENTIONS: PReVaiL consisted of individually tailored eHealth encouragement physical activity for 52weeks. All patients received 45min of group-based health education and 15min of individual counseling involving patients' parents. OUTCOMES......·kg(-1)·min(-1) (95% CI -2.66 to 1.36). Between-group differences at 1year in physical activity, generic health-related quality of life, and disease-specific quality of life were not statistically significant. CONCLUSIONS: Adding a tailored eHealth intervention to health education and individual...

  9. An innovative model for achieving breast-feeding success in infants with complex surgical anomalies.

    Science.gov (United States)

    Edwards, Taryn M; Spatz, Diane L

    2010-01-01

    This manuscript describes an innovative nurse-driven continuous quality improvement project. Infants born with congenital surgical anomalies face significant challenges within the newborn period and human milk/breast-feeding may not be viewed as a priority. In many hospitals, nurses refer families to lactation consultants for all breast-feeding assistance and support. The Transition to Breast Pathway was developed on the basis of the evidence-based standards and protocols at The Children's Hospital of Philadelphia. The pathway consists of (1) initiation of pumping and maintenance of milk supply, (2) mouth care with human milk, (3) skin-to-skin care, (4) nonnutritive sucking at the breast, (5) transitioning to at breast feeds. A sample of 80 infants were enrolled in this project. Major results of the project are as follows: (1) mother's average milk supply was approximately 603 mL/d, (2) 71% (57/80) of the infants received mouth care with human milk, (3) 48% (38/80) mother/infant dyads performed skin-to-skin care, (4) 60% (35/58) of mother/infant dyads performed nonnutritive sucking at the breast, (5) 100% (58/58) of mother-infant dyads transitioned to breast prior to discharge. This continuous quality improvement project demonstrates that nurses can and should lead the process of transitioning infants to at breast feeds.

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

    Science.gov (United States)

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

    2015-01-01

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

  11. MR imaging of anorectal malformations and associated anomalies

    International Nuclear Information System (INIS)

    Nievelstein, R.A.J.; Valk, J.; Vos, A.

    1998-01-01

    Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

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

    Directory of Open Access Journals (Sweden)

    Lu Ban

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

  13. Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro (Tokyo Univ. (Japan). Faculty of Medicine); Matsumura, Kiichiro

    1993-12-01

    Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author).

  14. Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

    International Nuclear Information System (INIS)

    Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro; Matsumura, Kiichiro.

    1993-01-01

    Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author)

  15. Health-related fitness profiles in adolescents with complex congenital heart disease

    DEFF Research Database (Denmark)

    Klausen, Susanne Hwiid; Wetterslev, Jørn; Søndergaard, Lars

    2015-01-01

    PURPOSE: This study investigates whether subgroups of different health-related fitness (HrF) profiles exist among girls and boys with complex congenital heart disease (ConHD) and how these are associated with lifestyle behaviors. METHODS: We measured the cardiorespiratory fitness, muscle strength...... in the Robust clusters reported leading a physically active lifestyle and participants in the Less robust cluster reported leading a sedentary lifestyle. Diagnoses were evenly distributed between clusters. CONCLUSIONS: The cluster analysis attributed some of the variability in cardiorespiratory fitness among...

  16. A congenital malformation of the systemic heart complex in Sepia officinalis L. (Cephalopoda)

    Science.gov (United States)

    Schipp, R.; von Boletzky, S.; Jakobs, P.; Labourg, P. J.

    1998-03-01

    In semi-adult Sepia officinalis L. (Cephalopoda) from the Bay of Arcachon (France) a congenital malformation of the systemic heart is described by macro-and microscopical methods. It concerns an atypical doubling of the site of insertion at the cephalic aorta at the apical ventricle. Its comparison with the paired anlagen of the systemic heart complex in normal embryogenesis and the central circulatory system of Nautilus gives rise to interpret it as a form of atavism. The possible causal role of mutagenic antifoulings is discussed.

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

    Science.gov (United States)

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

    1978-05-01

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

  18. MR imaging of paediatric uterovaginal anomalies

    International Nuclear Information System (INIS)

    Lang, I.M.; Babyn, P.; Oliver, G.D.

    1999-01-01

    Background. Transabdominal ultrasound (US) has not proved completely reliable in Muellerian duct anomalies. One study has shown it useful in obstructed uterovaginal anomalies. We are unaware of a study that has used endovaginal ultrasound in children to investigate uterovaginal anomalies. Magnetic resonance imaging (MRI) is now gaining wide acceptance in imaging congenital abnormalities of the genital tract. Objective. To identify the problems and potential pitfalls of using MRI to evaluate the female genital tract in paediatric patients. Materials and methods. A retrospective review of the MRI scans of 19 patients, aged 3 months to 19 years (mean 14 years), with uterovaginal anomalies. Results. The uterovaginal anomalies were categorised into three groups: (1) congenital absence of the Muellerian ducts, or the Mayer-Rokitansky-Kuster-Hauser syndrome (n = 7), (2) disorders of vertical fusion (n = 2) and (3) disorders of lateral fusion (n = 10). Conclusions. MRI is a reliable method for evaluating paediatric uterovaginal anomalies, but should be analysed in conjunction with other imaging modalities (US and genitography). Previous surgery makes interpretation more difficult and, if possible, MRI should be carried out prior to any surgery. An accurate MRI examination can be extremely helpful prior to surgery and it is important for the radiologist to have knowledge of how these complex anomalies are managed and what pitfalls to avoid. (orig.)

  19. Magnetic resonance imaging of complex congenital heart disease in aduits; Magnetresonanztomographie komplexer kongenitaler Herzerkrankungen beim Erwachsenen

    Energy Technology Data Exchange (ETDEWEB)

    Bremerich, J. [San Francisco Univ, CA (United States). Dept. of Radiology]|[Universitaetsklinik Basel (Switzerland). Abt. fuer Medizinische Radiologie; Wyttenbach, R.; Higgins, C.B. [San Francisco Univ, CA (United States). Dept. of Radiology; Buser, P. [Universitaetsklinik Basel (Switzerland). Abt. fuer Kardiologie; Steinbrich, W. [Universitaetsklinik Basel (Switzerland). Abt. fuer Medizinische Radiologie

    1999-04-01

    An increasing number of patients with complex congenital heart disease reaches adulthood, because treatment and patient outcome have improved considerably in recent years. Monitoring of these patients requires both definition of cardiac anatomy and assessment of function with good reproducibility. Complications after surgical repair such as restenoses of pulmonary arteries after surgical repair of Tetralogy of Fallot, ventricular hypertrophy, stenoses or leakage of baffles, or stenosis and aneurysms of anastomoses have to be detected at an early stage. Magnetic Resonance Imaging (MRI) is an excellent tool to monitor these patients because of its noninvasive nature, its good interstudy and interobserver reproducibility, and because it allows assessment of both cardiac anatomy and function. This paper reviews the current applications of MRI in complex congenital heart disease in adults. (orig.) [Deutsch] Durch Verbesserungen in der Diagnose und Therapie komplexer kongenitaler Herzerkrankungen kann eine zunehmende Anzahl von betroffenen Patienten das Erwachsenenalter erreichen. Diese Patienten benoetigen regelmaessige postoperative Verlaufskontrollen, um Komplikationen wie z.B. Restenosen der grossen Arterien, Stenosen, Lecks und Aneurysmata von Anastomosen, Ventrikelhypertrophie und -dilatation oder Klappendysfunktionen fruehzeitig zu erkennen und zu behandeln. Fuer nichtinvasive regelmaessige Verlaufskontrollen bietet sich die Magnetresonanztomographie (MRT) des Herzens an, da sie eine umfassende Untersuchung sowohl der Morphologie als auch der Funktion des Herzens mit guter Reproduzierbarkeit erlaubt. Die gegenwaertigen klinischen Anwendungen der MRT bei komplexen kongenitalen Herzerkrankungen beim Erwachsenen werden in dieser Uebersicht beschrieben. (orig.)

  20. Surgical Management and Outcomes of Ebstein Anomaly in Neonates and Infants: A Society of Thoracic Surgeons Congenital Heart Surgery Database Analysis.

    Science.gov (United States)

    Holst, Kimberly A; Dearani, Joseph A; Said, Sameh M; Davies, Ryan R; Pizarro, Christian; Knott-Craig, Christopher; Kumar, T K Susheel; Starnes, Vaughn; Kumar, S Ram; Pasquali, Sara K; Thibault, Dylan P; Meza, James M; Hill, Kevin D; Chiswell, Karen; Jacobs, Jeffrey P; Jacobs, Marshall L

    2018-05-16

    Ebstein anomaly (EA) encompasses a broad spectrum of morphology and clinical presentation. Those who are symptomatic early in infancy are generally at highest risk, but there are limited data regarding multi-centric practice patterns and outcomes. We analyzed multi-institutional data concerning operations and outcomes in neonates and infants with EA. Index operations reported in the STS Congenital Heart Surgery Database (2010-2016) were potentially eligible for inclusion. Analysis was limited to patients with diagnosis of Ebstein anomaly and less than 1 year of age at time of surgery (neonates ≤30 days, infants 31-365 days). The study population included 255 neonates and 239 infants (at 95 centers). Among neonates, median age at operation was 7 days (IQR 4-13) and the majority required preoperative ventilation (61.6%, 157). The most common primary operation performed among neonates was Ebstein repair (39.6%, 101) followed by systemic to pulmonary shunt (20.4%, 52) and tricuspid valve closure (9.4%, 24). Overall neonatal operative mortality was 27.4% (70) with composite morbidity-mortality of 51.4% (48). For infants, median age at operation was 179 days (6 months); the most common primary operation for infants was superior cavopulmonary anastomosis (38.1%, 91) followed by Ebstein repair (15.5%, 37). Overall operative mortality for infants was 9.2% (22) with composite morbidity-mortality of 20.1% (48). Symptomatic EA in early infancy is very high risk and a variety of operative procedures were performed. A dedicated prospective study is required to more fully understand optimal selection of treatment pathways to guide a systematic approach to operative management. Copyright © 2018. Published by Elsevier Inc.

  1. Applying complexity theory: A primer for identifying and modeling firm anomalies

    Directory of Open Access Journals (Sweden)

    Arch G. Woodside

    2018-01-01

    Full Text Available This essay elaborates on the usefulness of embracing complexity theory, modeling outcomes rather than directionality, and modeling complex rather than simple outcomes in strategic management. Complexity theory includes the tenet that most antecedent conditions are neither sufficient nor necessary for the occurrence of a specific outcome. Identifying a firm by individual antecedents (i.e., non-innovative versus highly innovative, small versus large size in sales or number of employees, or serving local versus international markets provides shallow information in modeling specific outcomes (e.g., high sales growth or high profitability—even if directional analyses (e.g., regression analysis, including structural equation modeling indicates that the independent (main effects of the individual antecedents relate to outcomes directionally—because firm (case anomalies almost always occur to main effects. Examples: a number of highly innovative firms have low sales while others have high sales and a number of non-innovative firms have low sales while others have high sales. Breaking-away from the current dominant logic of directionality testing—null hypotheses statistic testing (NHST—to embrace somewhat precise outcome testing (SPOT is necessary for extracting highly useful information about the causes of anomalies—associations opposite to expected and “statistically significant” main effects. The study of anomalies extends to identifying the occurrences of four-corner strategy outcomes: firms doing well in favorable circumstances, firms doing badly in favorable circumstances, firms doing well in unfavorable circumstances, and firms doing badly in unfavorable circumstances. Models of four-corner strategy outcomes advances strategic management beyond the current dominant logic of directional modeling of single outcomes.

  2. Geology, mineralogy and geochemistry of Ferezneh ferromanganese anomaly, east of Sangan mines complex, NE Iran

    Directory of Open Access Journals (Sweden)

    Nazi Mazhari

    2015-04-01

    Full Text Available Introduction The Ferezneh prospect area is one of the eastern anomalies of Khaf’s Sangan iron mine. The Sangan mines complex is located within the Khaf-Kashmar-Bardeskan volcano-plutonic and metallogenic belt in northeastern Iran. The Sangan mine is the largest Fe skarn in western Asia, having a proven reserve of over 1000 Mt iron ore @ 53% Fe (Golmohammadi et al., 2015 and consisting of three parts; western, central and eastern Sangan, each part including several anomalies. In this study, Ferezneh (North and West prospect area which is an eastern anomaly of the Sangan iron ore is discussed. Ferezneh anomaly is located in 60°36'7" - 60°34'27"E and 34°30'47" - 34°29'46"N, 35 km south of the city of Taybad, 10 km southeast of Karat and 1.5 km southwest of Ferezneh village. The purpose of this study was to prepare a geologic map for separation and identification of the intrusions, determining their relationships with mineralization, distinguishing the type of mineralization, mineralogy, petrology and geochemistry of the mineral deposits, and finally their relationship with other major Sangan’s deposits. Materials and methods In order to achieve the objectives of the study: 1- 140 thin sections of the intrusive rocks, marble limestone and dolomite, as well as 40 polished sections of ore were taken in an area of 9.5 km2. Mineralogy and mineralization studies were performed in the Economic Geology Laboratory of Ferdowsi University of Mashhad. 2- A few samples were selected for X-ray diffraction analysis in order to ensure accuracy of mineralogical studies and were sent to Binalood Laboratory in Tehran. 3- In addition to major and minor elements geochemistry study of the ores, 10 samples were sent to East Amitis Laboratory in Mashhad for XRF analysis and also to Canada S.G.S Laboratory for ICP-MS analysis. Discussion and results Mineralization in the Ferezneh prospect area was limited to iron and manganese oxides in the form of massive and

  3. Factors Influencing Adaptation and Performance at Physical Exercise in Complex Congenital Heart Diseases after Surgical Repair

    Directory of Open Access Journals (Sweden)

    P. P. Bassareo

    2014-01-01

    Full Text Available In the last thirty years, steady progress in the diagnostic tools and care of subjects affected by congenital heart diseases (CHD has resulted in a significant increase in their survival to adulthood, even for those affected by complex CHD. Based on these premises, a number of teenagers and adults affected by corrected (surgically or through interventional techniques CHD ask to be allowed to undertake sporting activities, both at a recreational and competitive level. The purpose of this review is to examine the mechanisms influencing the adaption at physical exercise of patients suffering from complex CHD. The conclusion is that even if there are some modest risks with exercise, they should be seen in perspective, and the life-long benefits of regular exercise on general health, mood, and well-being should be emphasized.

  4. Prevalence of recurrent urinary tract infection in children with congenital anomalies of the kidney and urinary tract (CAKUT)

    Science.gov (United States)

    Ramayani, O. R.; Eyanoer, P. C.; Ritarwan, K.; Siregar, B.; Siregar, R. S.

    2018-03-01

    Prevalence of congenital abnormalities varies from 3.5% up to 43% in pediatrics.This wide interval is due to limited numbers of research. Limitation of data on recurrent urinary tract infection in CAKUT infants as well as symptoms which resemble other diseases makes it quite a challenge. A study of the prospective cohort was established to analyze the prevalence of recurrent UTI among CAKUT in children at Neonatal and Nephrology Paediatric Department of H.Adam Malik Hospital from 2016 to 2017.Urinalysis and urine culture were used to assess the presence of UTI. The result showed that the prevalence of UTI in CAKUT patients reached 64% in which 52% is the obstructive type and 12% non-obstructive type. Pelvic ureteric junction obstruction is the most common cause. Children with known urinary tract problems such as CAKUT are very prone to developing recurrent UTI. Due to a low survival rate of children with ESKD, new strategies are needed to prevent CAKUT, preserve renal function, and reduce associated cardiovascular morbidity. Meanwhile, children with CAKUT requires a multi-disciplinary and longer follow up.

  5. A Convex Hull-Based New Metric for Quantification of Bladder Wall Irregularity in Pediatric Patients With Congenital Anomalies of the Kidney and Urinary Tract.

    Science.gov (United States)

    Stember, Joseph N; Newhouse, Jeffrey; Behr, Gerald; Alam, Shumyle

    2017-11-01

    Early identification and quantification of bladder damage in pediatric patients with congenital anomalies of the kidney and urinary tract (CAKUT) is crucial to guiding effective treatment and may affect the eventual clinical outcome, including progression of renal disease. We have developed a novel approach based on the convex hull to calculate bladder wall trabecularity in pediatric patients with CAKUT. The objective of this study was to test whether our approach can accurately predict bladder wall irregularity. Twenty pediatric patients, half with renal compromise and CAKUT and half with normal renal function, were evaluated. We applied the convex hull approach to calculate T, a metric proposed to reflect the degree of trabeculation/bladder wall irregularity, in this set of patients. The average T value was roughly 3 times higher for diseased than healthy patients (0.14 [95% confidence interval, 0.10-0.17] versus 0.05 [95% confidence interval, 0.03-0.07] for normal bladders). This disparity was statistically significant (P hull-based procedure can measure bladder wall irregularity. Because bladder damage is a reversible precursor to irreversible renal parenchymal damage, applying such a measure to at-risk pediatric patients can help guide prompt interventions to avert disease progression. © 2017 by the American Institute of Ultrasound in Medicine.

  6. Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.

    Science.gov (United States)

    Paulo, Sabrina Soares; Fernandes-Rosa, Fábio L; Turatti, Wendy; Coeli-Lacchini, Fernanda Borchers; Martinelli, Carlos E; Nakiri, Guilherme S; Moreira, Ayrton C; Santos, Antônio C; de Castro, Margaret; Antonini, Sonir R

    2015-04-01

    Sonic Hedgehog (SHH) and GLI2, an obligatory mediator of SHH signal transduction, are holoprosencephaly (HPE)-associated genes essential in pituitary formation. GLI2 variants have been found in patients with congenital hypopituitarism without complex midline cerebral defects (MCD). However, data on the occurrence of SHH mutations in these patients are limited. We screened for SHH and GLI2 mutations or copy number variations (CNV) in patients with congenital hypopituitarism without MCD or with variable degrees of MCD. Detailed data on clinical, laboratory and neuroimaging findings of 115 patients presenting with congenital hypopituitarism without MCD, septo-optic dysplasia or HPE were analysed. The SHH and GLI2 genes were directly sequenced, and the presence of gene CNV was analysed by multiplex ligation-dependent probe amplification (MLPA). Anterior pituitary deficiency was found in 74% and 53% of patients with SOD or HPE, respectively. Diabetes insipidus was common in patients with HPE (47%) but infrequent in patients with congenital hypopituitarism or SOD (7% and 8%, respectively). A single heterozygous nonsense SHH mutation (p.Tyr175Ter) was found in a patient presenting with hypopituitarism and alobar HPE. No other SHH mutations or CNV were found. Nine GLI2 variations (8 missense and 1 frameshift) including a homozygous and a compound heterozygous variation were found in patients with congenital hypopituitarism or SOD, but not in HPE patients. No GLI2 CNV were found. SHH mutations or copy number variations are not a common cause of congenital hypopituitarism in patients without complex midline cerebral defects. GLI2 variants are found in some patients with congenital hypopituitarism without complex midline cerebral defects or septo-optic dysplasia. However, functional analyses of these variants are needed to strengthen genotype-phenotype relationship. © 2014 John Wiley & Sons Ltd.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-04-15

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

  8. Impaired perception of harmonic complexity in congenital amusia: a case study.

    Science.gov (United States)

    Reed, Catherine L; Cahn, Steven J; Cory, Christopher; Szaflarski, Jerzy P

    2011-07-01

    This study investigates whether congenital amusia (an inability to perceive music from birth) also impairs the perception of musical qualities that do not rely on fine-grained pitch discrimination. We established that G.G. (64-year-old male, age-typical hearing) met the criteria of congenital amusia and demonstrated music-specific deficits (e.g., language processing, intonation, prosody, fine-grained pitch processing, pitch discrimination, identification of discrepant tones and direction of pitch for tones in a series, pitch discrimination within scale segments, predictability of tone sequences, recognition versus knowing memory for melodies, and short-term memory for melodies). Next, we conducted tests of tonal fusion, harmonic complexity, and affect perception: recognizing timbre, assessing consonance and dissonance, and recognizing musical affect from harmony. G.G. displayed relatively unimpaired perception and production of environmental sounds, prosody, and emotion conveyed by speech compared with impaired fine-grained pitch perception, tonal sequence discrimination, and melody recognition. Importantly, G.G. could not perform tests of tonal fusion that do not rely on pitch discrimination: He could not distinguish concurrent notes, timbre, consonance/dissonance, simultaneous notes, and musical affect. Results indicate at least three distinct problems-one with pitch discrimination, one with harmonic simultaneity, and one with musical affect-and each has distinct consequences for music perception.

  9. Multidisciplinary management of pregnancy in complex congenital heart disease: a model for coordination of care.

    Science.gov (United States)

    Harris, Rachel C; Fries, Melissa H; Boyle, Annelee; Adeniji-Adele, Hassan; Cherian, Zacharia; Klein, Nancy; John, Anitha S

    2014-01-01

    With advancements in medical care, many women with complex congenital heart disease (CHD) are now living into adulthood and childbearing years. The strains of pregnancy and parturition can be dangerous in such patients, and careful interdisciplinary plans must be made to optimize maternal and fetal health through this process. Several large studies have been published regarding risk prediction and medical management of pregnancy in complex CHD, though few case studies detailing clinical care plans have been published. The objective of this report is to describe the process of developing a detailed pregnancy and delivery care plan for three women with complex CHD, including perspectives from the multidisciplinary specialists involved in the process. This article demonstrates that collaboration between specialists in the fields of cardiology, anesthesiology, high-risk obstetrics, maternal fetal medicine, and neonatology results in clinically successful individualized treatment plans for the management of pregnancy in complex CHD. Multidisciplinary collaboration is a crucial element in the management of pregnancy in complex CHD. We provide a template used in three cases which can serve as a model for the design of future care plans. © 2014 Wiley Periodicals, Inc.

  10. Congenital abnormalities of the posterior fossa.

    Science.gov (United States)

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. RSNA, 2015

  11. Role of angiocardiography in the diagnosis and management of complex/complicated congenital heart disease

    International Nuclear Information System (INIS)

    Ling Jian; Liu Yuqing

    2006-01-01

    Objective: To evaluate the role of angiocadiography (ACG) in the diagnosis and management of complex/complicated congenital heart disease (CHD). Methods: A retrospective study of ACG findings in 360 cases with complex/complicated CHD was performed with a comparision to that of echocardiography (Echo) and related clinical examination. Results: The present series of CHD cases included pulmonary atresia with ventricular septal defect in 75 cases, double outlet of right ventricle in 62 cases, Fallot's tetralogy in 60 cases, single ventricle in 52 cases, transposition of the great arteries in 42 cases, tricuspid valve atresia in 15 cases, coronary abnormality in 6 eases, total abnormal pulmonary venous connection in 5 cases, total endocardial cushion defect in 5 cases, persistent truncus arteriosus in 4 cases, pulmonary atresia with normal ventricular septum in 3 cases, other disorders in 7 eases, and postsurgical operation in 24 cases. ACG was superior to that of Echo in demonstrating the abnormalities of systemic, pulmonary, and coronary arteries and their branches of complex/complicated CHD as well as measuring the pressure of pulmonary artery, vein, and systemic-pulmonary collateral vessels. Conclusion: In the diagnosis and differential diagnosis of knotty cases with complex and complicated CHD, particularly in the demonstration of full view of systemic, pulmonary, and coronary arterial branches and accurate measurement of' pulmonary arterial pressure/resistance, and atrial, ventricular, and systemic arterial pressure, ACG (including DSA) still plays an important and irreplaceable role. (authors)

  12. Anomalies in the equilibrium and nonequilibrium properties of correlated ions in complex molecular environments

    Science.gov (United States)

    Mahakrishnan, Sathiya; Chakraborty, Subrata; Vijay, Amrendra

    2017-11-01

    Emergent statistical attributes, and therefore the equations of state, of an assembly of interacting charge carriers embedded within a complex molecular environment frequently exhibit a variety of anomalies, particularly in the high-density (equivalently, the concentration) regime, which are not well understood, because they do not fall under the low-concentration phenomenologies of Debye-Hückel-Onsager and Poisson-Nernst-Planck, including their variants. To go beyond, we here use physical concepts and mathematical tools from quantum scattering theory, transport theory with the Stosszahlansatz of Boltzmann, and classical electrodynamics (Lorentz gauge) and obtain analytical expressions both for the average and the frequency-wave vector-dependent longitudinal and transverse current densities, diffusion coefficient, and the charge density, and therefore the analytical expressions for (a) the chemical potential, activity coefficient, and the equivalent conductivity for strong electrolytes and (b) the current-voltage characteristics for ion-transport processes in complex molecular environments. Using a method analogous to the notion of Debye length and thence the electrical double layer, we here identify a pair of characteristic length scales (longitudinal and the transverse), which, being wave vector and frequency dependent, manifestly exhibit nontrivial fluctuations in space-time. As a unifying theme, we advance a quantity (inverse length dimension), gscat(a ), which embodies all dynamical interactions, through various quantum scattering lengths, relevant to molecular species a, and the analytical behavior which helps us to rationalize the properties of strong electrolytes, including anomalies, in all concentration regimes. As an example, the behavior of gscat(a ) in the high-concentration regime explains the anomalous increase of the Debye length with concentration, as seen in a recent experiment on electrolyte solutions. We also put forth an extension of the

  13. ACE serum level and I/D gene polymorphism in children with obstructive uropathies and other congenital anomalies of the kidney and urinary tract.

    Science.gov (United States)

    Kostadinova, Emilya Stambolova; Miteva, Lyuba Dineva; Stanilova, Spaska Angelova

    2017-08-01

    The aim of this study was to investigate the association of an insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme (ACE) gene with serum ACE level in relation to the type and severity of malformations from congenital anomalies of the kidney and urinary tract (CAKUT) spectrum. A group of 134 Bulgarian children with CAKUT divided into four subgroups according to the leading malformation and 109 controls were genotyped by classical polymerase chain reaction. The quantitative determination of serum ACE was performed by ELISA method. A significant elevation of DD-genotype was observed in high-grade hydronephrosis compared to low-grade (43% vs. 9%). The carrying of DD-genotype was associated with higher risk for severe hydronephrosis with OR = 7.5 (95% CI: 1.242÷45.278; P = 0.028). Also, elevated serum ACE concentrations in patients with high-grade compared to low-grade hydronephrosis (237.4 ± 45 ng/mL vs 180.5 ± 64 ng/mL; P = 0.0065) were found. ACE level was significantly lower in patients with unilateral renal agenesis; hypo/dysplasia and multicystic dysplastic kidney (156.6 ± 54 ng/mL) than controls (200.6 ± 56.7 ng/mL; P = 0.005) and the remaining CAKUT subgroups. The DD genotype of I/D ACE polymorphism encodes the highest serum ACE level may be an additional genetic risk factor contributing to the severe hydronephrosis in Bulgarian patients with obstructive uropathies in contrast to other investigated categories of CAKUT malformations. © 2016 Asian Pacific Society of Nephrology.

  14. Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases.

    Science.gov (United States)

    Taruscio, Domenica; Baldi, Francesca; Carbone, Pietro; Neville, Amanda J; Rezza, Giovanni; Rizzo, Caterina; Mantovani, Alberto

    2017-01-01

    Congenital anomalies (CA) represent an important fraction of rare diseases, due to the critical role of non-genetic factors in their pathogenesis. CA are the main group of rare diseases in which primary prevention measures will have a beneficial impact. Indeed, since 2013 the European Union has endorsed a body of evidence-based recommendations for CA primary prevention; the recommendations aim at facilitating the inclusion of primary prevention actions the National Rare Disease Plans of EU Member States and encompass different public health fields, from environment through to maternal diseases and lifestyles.The chapter overviews and discusses the assessment of main risk factors for CA, such as environmental toxicants, maternal health and lifestyles and infections, with a special attention to issues that are emerging or need more knowledge.Overall, the availability of CA registries is important for estimating the health burden of CA, identifying possible hotspots, assessing the impact of interventions and addressing further, fit-to-purpose research.The integration of relevant public health actions that are already in place (e.g., control of noxious chemicals, vaccination programmes, public health services addressing chronic maternal conditions) can increase the affordability and sustainability of CA primary prevention. In developing countries with less primary prevention in place and limited overall resources, a first recognition phase may be pivotal in order to identify priority targets. In the meanwhile, policy makers should be made aware that primary prevention of RD supports publicly endorsed societal values like the knowledge-based promotion of health, empowerment, equity and social inclusiveness.

  15. Imaging of congenital diaphragmatic hernias

    International Nuclear Information System (INIS)

    Taylor, George A.; Estroff, Judy A.; Atalabi, Omolola M.

    2009-01-01

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  16. Imaging of congenital diaphragmatic hernias

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, George A.; Estroff, Judy A. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); Atalabi, Omolola M. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); The College of Medicine/University College Hospital, Ibadan (Nigeria)

    2009-01-15

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  17. Executive Functioning and School Performance Among Pediatric Survivors of Complex Congenital Heart Disease

    Science.gov (United States)

    Gerstle, Melissa; Beebe, Dean W.; Drotar, Dennis; Cassedy, Amy; Marino, Bradley S.

    2016-01-01

    Objective To investigate the presence and severity of real-world impairments in executive functioning– responsible for children’s regulatory skills (metacognition, behavioral regulation) – and its potential impact on school performance among pediatric survivors of complex congenital heart disease (CHD). Study design Survivors of complex CHD aged 8–16 years (n=143)and their parents/guardians from a regional CHD survivor registry participated (81% participation rate). Parents completed proxy measures of executive functioning, school competency, and school-related quality of life (QOL). Patients also completed a measure of school QOL and underwent IQ testing. Patients were categorized into two groups based on heart lesion complexity: two-ventricle or single-ventricle. Results Survivors of complex CHD performed significantly worse than norms for executive functioning, IQ, school competency, and school QOL. Metacognition was more severely affected than behavioral regulation, and metacognitive deficits were more often present in older children. Even after taking into account demographic factors, disease severity, and IQ, metacognition uniquely and strongly predicted poorer school performance. In exploratory analyses, patients with single-ventricle lesions were rated as having lower school competency and school QOL, and patients with two-ventricle lesions were rated as having poorer behavioral regulation. Conclusions Survivors of complex CHD experience greater executive functioning difficulties than healthy peers, with metacognition particularly impacted and particularly relevant for day-to-day school performance. Especially in older children, clinicians should watch for metacognitive deficits, such as problems with organization, planning, self-monitoring, and follow-through on tasks. PMID:26875011

  18. Focal skin defect, limb anomalies and microphthalmia.

    NARCIS (Netherlands)

    Jackson, K.E.; Andersson, H.C.

    2004-01-01

    We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and

  19. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  20. Electron beam CT diagnosis of congenital unilateral absence of pulmonary artery

    International Nuclear Information System (INIS)

    Zhou Yuan; Dai Ruping; Cao Cheng; Zhang Gejun; Jing Baolian

    2003-01-01

    Objective: To evaluate the clinical value of electron beam CT (EBCT) in diagnosing congenital unilateral absence of pulmonary artery (UAPA). Methods: Patients with clinically suspected pulmonary artery disease or primary pulmonary hypertension underwent EBCT scanning. EBCT confirmed the diagnosis of UAPA in 11 patients, who were also evaluated with echocardiography and chest roentgenography. Cardioangiography and nuclear ventilation-perfusion scan were performed in some patients for a comparative study. Results: 4 female adults had UAPA with out associated congenital anomaly. 3 male children with coexisting complex congenital abnormality had unilateral absence of the left pulmonary artery and 4 patients coexisted other simple cardiovascular anomaly. EBCT scanning simultaneously displayed topographic pattern of both unilateral absence of pulmonary artery and coexisting congenital cardiovascular anomaly, as well as lung diseases. Conclusion: UAPA diagnosed in childhood usually has unilateral absence of the left pulmonary artery and associated congenital cardiovascular anomaly, while UAPA diagnosed in adult usually has UAPA on the right side without associated congenital anomaly. EBCT is one of the optimal imaging techniques in diagnosing UAPA and it greatly increases the diagnostic efficacy than echocardiography dose. Both EBCT and cardioangiography have their own advantages, however, EBCT, as a noninvasive method, should be complementary and not exclusive

  1. The adaptation process of mothers raising a child with complex congenital heart disease.

    Science.gov (United States)

    Ahn, Jeong-Ah; Lee, Sunhee

    2018-01-01

    Mothers of children with congenital heart disease (CHD) tend to be concerned about their child's normal life. The majority of these mothers tend to experience negative psychological problems. In this study, the adaptation process of mothers raising a child with complex CHD was investigated based on the sociocultural context of Korea. The data collection was conducted by in-depth interviews and theoretical sampling was performed until the data were saturated. The collected data were analyzed using continuous theoretical comparisons. The results of the present study showed that the core category in the mothers' adaptation process was 'anxiety regarding the future', and the mothers' adaptation process consisted of the impact phase, standing against phase, and accepting phase. In the impact phase, the participants emotionally fluctuated between 'feelings of abandonment' and 'entertaining hope'. In the standing against phase, participants tended to dedicate everything to child-rearing while being affected by 'being encouraged by support' and 'being frustrated by tasks beyond their limits'. In the accepting phase, the subjects attempted to 'accept the child as is', 'resist hard feelings', and 'share hope'. Health-care providers need to develop programs that include information regarding CHD, how to care for a child with CHD, and effective child-rearing behaviors.

  2. Hypoxic Challenge Testing (Fitness to Fly) in children with complex congenital heart disease.

    Science.gov (United States)

    Naqvi, Nitha; Doughty, Victoria L; Starling, Luke; Franklin, Rodney C; Ward, Simon; Daubeney, Piers E F; Balfour-Lynn, Ian M

    2018-02-14

    Commercial airplanes fly with an equivalent cabin fraction of inspired oxygen of 0.15, leading to reduced oxygen saturation (SpO 2 ) in passengers. How this affects children with complex congenital heart disease (CHD) is unknown. We conducted Hypoxic Challenge Testing (HCT) to assess need for inflight supplemental oxygen. Children aged heart rate, QT interval corrected for heart rate and partial pressure of carbon dioxide measured transcutaneously (PtcCO 2 ). A test failed when children with (1) normal baseline SpO 2 desaturated to 85%, (2) baseline SpO 2 85%-94% desaturated by 15% of baseline; and (3) baseline SpO 2 75%-84% desaturated to 70%. There were 68 children, mean age 3.3 years (range 10 weeks-14.5 years). Children with normal (n=36) baseline SpO 2 desaturated from median 99% to 91%, Pheart rate and QT interval corrected for heart rate were unaffected by the hypoxic state. This is the first evidence to help guide which children with CHD need a preflight HCT. We suggest all children with an actual or potential R-L shunt should be tested. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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

    Science.gov (United States)

    Antipenko YeN; Kogut, N N

    1993-10-01

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

  4. Capabilities and benefits of nuclear imagine (scintigraphy for the assessment of anatomic and topographic and functional state of kidneys in congenital anomalies

    Directory of Open Access Journals (Sweden)

    V.Yu. Kundin

    2017-02-01

    Full Text Available The article discusses the possibility of static and dynamic radionuclide imaging in the diagnostics of anomalies and evaluation of the functionality of abnormal kidney. It presents the advantages, disadvantages and possibilities of nuclear diagnostics of anomalies of quantity, size, position, relationship and structure of the kidneys. It was concluded about high diagnostic value of radionuclide studies and their use along with ultrasound screening in the observation of patients with the renal anomalies.

  5. Magnetic resonance imaging of Muellerian duct anomalies in children

    International Nuclear Information System (INIS)

    Li, Yi; Phelps, Andrew; Zapala, Matthew A.; MacKenzie, John D.; MacKenzie, Tippi C.; Courtier, Jesse

    2016-01-01

    Muellerian duct anomalies encompass a wide variety of disorders resulting from abnormalities in the embryological development of the Muellerian ducts. In the prepubertal pediatric population, Muellerian duct anomalies are often incidental findings on studies obtained for other reasons. The onset of menses can prompt more clinical symptoms. Proper characterization of Muellerian duct anomalies is important because these anomalies can affect the development of gynecological disorders as well as fertility. Muellerian duct anomalies also carry a high association with other congenital anomalies, particularly renal abnormalities. MRI is widely considered the best modality for assessing Muellerian duct anomalies; it provides multiplanar capability, clear anatomical detail and tissue characterization without ionizing radiation. MRI allows for careful description of Muellerian duct anomalies, often leading to classification into the most widely accepted classification system for Muellerian duct anomalies. This system, developed by the American Society of Reproductive Medicine, includes seven subtypes: uterine agenesis/hypoplasia, unicornuate, didelphys, bicornuate, septate, arcuate, and diethylstilbestrol (DES) drug-related uterus. In cases of complex anomalies that defy classification, MRI allows detailed depiction of all components of the anatomical abnormality, allowing for proper management and surgical planning. (orig.)

  6. Safety and observer variability of cardiac magnetic resonance imaging combined with low-dose dobutamine stress-testing in patients with complex congenital heart disease

    NARCIS (Netherlands)

    Robbers-Visser, D.; Luijnenburg, S.E.; Berg, J. van den; Roos-Hesselink, J.W.; Strengers, J.L.; Kapusta, L.; Moelker, A.; Helbing, W.A.

    2011-01-01

    BACKGROUND: In patients with complex congenital heart disease (CHD) abnormal ventricular stress responses have been reported with dobutamine stress cardiovascular magnetic resonance (DCMR). These abnormal stress responses are potential indicators of long-term outcome. However, safety and

  7. The MRI study of the sphincter muscle complex in congenital anorectal malformations

    International Nuclear Information System (INIS)

    Tang Shaotao; Mao Yongzhong; Wang Yong; Dong Ning; Ruan Qinglan; Peng Zhenjun; Kong Xiangquan; Liu Dingxi

    2007-01-01

    Objective: To evaluate the development of the sphincter muscle complex (SMC) and defecation function in pediatric patients with congenital anorectal malformations (ARM). Methods: A total of 64 children underwent MRI, among whom 39 were patients with ARM, and the others were patients without ARM undergoing MRI because of other dieases. The dimensions of the SMC in different planes were evaluated with different sequences and coils. The relationship between the SMC development and the defecation function was investigated. Results: In control group, the absolute value of SMC width was (3.63 ± 0.22)mm, which had a high correlation with age (r=0.998, P 0.05). The SMCs in intermediate ARM patients [muscle index (MI)=0.47 ± 0.05] and low ARM patients (MI=0.49 ± 0.05) were well developed. The SMCs in a portion of patients with high ARM (MI=0.28 ± 0.06) were poorly developed, when MI≤0.18, anorectal contraction pressure was significantly lower (t=3.55, P 0.18[(0.85 ± 0.20) vs (2.24 ± 1.02) kPa]. The length of anal canal with high-pressure[(10.88 ± 3.64) vs (20.26 ± 4.34)mm] was shorter (t= 5.18, P 0.18, the anorectal angle was less than 90 degrees, and normal continent function was found in 21 of 23 cases (91%). Conclusion: MRI can be employed to evaluate the development of SMC in patients with ARM, MI was an objective criteria to evaluate the development of SMC. When MI≤0.18, maldevelopment of SMC will be highly suspected. (authors)

  8. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

    NARCIS (Netherlands)

    Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

    2003-01-01

    We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

  9. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  10. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  11. Diagnostic accuracy of sub-mSv prospective ECG-triggering cardiac CT in young infant with complex congenital heart disease.

    Science.gov (United States)

    Gao, Wei; Zhong, Yu Min; Sun, Ai Min; Wang, Qian; Ouyang, Rong Zhen; Hu, Li Wei; Qiu, Han Sheng; Wang, Shi Yu; Li, Jian Ying

    2016-06-01

    To explore the clinical value and evaluate the diagnostic accuracy of sub-mSv low-dose prospective ECG-triggering cardiac CT (CCT) in young infants with complex congenital heart disease (CHD). A total of 102 consecutive infant patients (53 boys and 49 girls with mean age of 2.9 ± 2.4 m and weight less than 5 kg) with complex CHD were prospectively enrolled. Scans were performed on a 64-slice high definition CT scanner with low dose prospective ECG-triggering mode and reconstructed with 80 % adaptive statistical iterative reconstruction algorithm. All studies were performed during free breathing with sedation. The subjective image quality was evaluated by 5-point grading scale and interobserver variability was calculated. The objective image noise (standard deviation, SD) and contrast to noise ratio (CNR) was calculated. The effective radiation dose from the prospective ECG-triggering mode was recorded and compared with the virtual conventional retrospective ECG-gating mode. The detection rate for the origin of coronary artery was calculated. All patients also underwent echocardiography before CCT examination. 81 patients had surgery and their preoperative CCT and echocardiography findings were compared with the surgical results and sensitivity, specificity, positive and negative predictive values and accuracy were calculated for separate cardiovascular anomalies. Heart rates were 70-161 beats per minute (bpm) with mean value of 129.19 ± 14.52 bpm. The effective dose of 0.53 ± 0.15 mSv in the prospective ECG-triggering cardiac CT was lower than the calculated value in a conventional retrospective ECG-gating mode (2.00 ± 0.35 mSv) (p ECG-triggering CCT with sub-mSv effective dose provides excellent imaging quality and high diagnostic accuracy for young infants with complex CHD.

  12. Activation of the hippocampal complex during tactile maze solving in congenitally blind subjects

    DEFF Research Database (Denmark)

    Gagnon, Léa; Schneider, Fabien C; Siebner, Hartwig R

    2012-01-01

    Despite their lack of vision, congenitally blind subjects are able to build and manipulate cognitive maps for spatial navigation. It is assumed that they thereby rely more heavily on echolocation, proprioceptive signals and environmental cues such as ambient temperature and audition to compensate...... imaging (fMRI) in congenitally blind and blindfolded sighted participants while they navigated through a tactile multiple T-maze. Both groups learned the maze task at a similar pace. In blind participants, tactile maze navigation was associated with increased BOLD responses in the right hippocampus...

  13. What's New in Congenital Scoliosis?

    Science.gov (United States)

    Pahys, Joshua M; Guille, James T

    2018-03-01

    36 papers were selected for review based upon new findings. Classic manuscripts on congenital scoliosis are also included to provide sufficient background information. Congenital scoliosis represents a wide range of pathology from the simple, stable hemivertebra to the complex, progressive spinal deformity with chest wall abnormalities and associated cardiac, renal, and neural axis anomalies. This paper reviews the natural history and associated anomalies with congenital scoliosis as well as the most up-to-date classification schemes and various treatment options for the care of this challenging patient population. Level 5.

  14. Echocardiography in Ebstein's anomaly

    NARCIS (Netherlands)

    W.J. Gussenhoven (Wilhelmina Johanna)

    1984-01-01

    textabstractIn this thesis the value of echocardiography is evaluated for the diagnosis of Ebstein's anomaly of the tricuspid valve. This congenital heart defect, first described in 1866 by Wilhelm Ebstein, is characterized by an apical displacement of the septal and inferior tricuspid valve

  15. Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

    Directory of Open Access Journals (Sweden)

    Samuel Bloor

    2017-01-01

    Full Text Available B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks’ gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height G in the invariant “GT” splice donor site was identified. This variant is considered to be pathogenic as it decreases the splicing efficiency in the mRNA.

  16. Estudo da morbidade e da mortalidade perinatal em maternidades: III - Anomalias congênitas em nascidos vivos A study of perinatal morbidity and mortality in maternity hospitals: III - Congenital anomalies in live briths

    Directory of Open Access Journals (Sweden)

    José Maria Pacheco de Souza

    1987-02-01

    Full Text Available Realizou-se estudo das anomalias congênitas encontradas em recém-nascidos vivos, em nove maternidades, durante o ano de 1981-1982. O material é parte de uma pesquisa desenvolvida em sete maternidade do Estado de São Paulo, uma do Rio de Janeiro e uma de Florianópolis, Santa Catarina (Brasil, no período de agosto de 1981 a julho de 1982, quando foram coletados dados sobre todos os nascimentos ocorridos nesses nove serviços. As anomalias congênitas foram definidas como as descritas no XIV.° capítulo da Classificação Internacional de Doenças - 1975, 9ª Revisão, tendo sido utilizada essa classificação para codificá-las. Na análise estatística foram utilizados o X² (com um grau de liberdade, o teste de inclinação para proporções ("Trend test" e a técnica de Berkson para a verificação da hipótese de aderência à distribuição de Poisson. Em 12.782 recém-nascidos vivos, 286 (2,24% apresentavam algum tipo de anomalia congênita, tendo havido 26 (0,20% crianças com duas anomalias, 9 (0,07% com três e duas (0,02 apresentando quatro tipos de malformações congênitas. As deformidades osteomusculares congênitas (código 754 da CID foram as mais freqüentes (19%;segue-se as outras anomalias congênitas do coração (746 com uma freqüência de 14,1%. Ao se analisar a prevalência dessas malformações pela idade da mãe nota-se que há um aumento da prevalência à medida que a idade avança, apenas para Sindrome de Down (758.Congenital anomalies in live births in nine maternities in the period 1981-1982 were studied. This was one aspect of a research project carried out in seven maternities in the State of S.Paulo, one in Rio de Janeiro and another in Florianópolis (Brazil, from which data on all births occurring between August 1981 and July 1982 were obtained. Congenital anomalies were classified according to the XIVth chapter of the CID-1975 - 9thRevision. Chi square for associations and for trend and Berkson

  17. Analysis of Renal Anomalies in VACTERL Association

    OpenAIRE

    Cunningham, Bridget K.; Khromykh, Alina; Martinez, Ariel F.; Carney, Tyler; Hadley, Donald W.; Solomon, Benjamin D.

    2014-01-01

    VACTERL association refers to a combination of congenital anomalies that can include: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula with esophageal atresia, Renal anomalies (typically structural renal anomalies), and Limb anomalies. We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least 3 component features of VACTERL and who had ab...

  18. A Homolog Pentameric Complex Dictates Viral Epithelial Tropism, Pathogenicity and Congenital Infection Rate in Guinea Pig Cytomegalovirus.

    Science.gov (United States)

    Coleman, Stewart; Choi, K Yeon; Root, Matthew; McGregor, Alistair

    2016-07-01

    In human cytomegalovirus (HCMV), tropism to epithelial and endothelial cells is dependent upon a pentameric complex (PC). Given the structure of the placenta, the PC is potentially an important neutralizing antibody target antigen against congenital infection. The guinea pig is the only small animal model for congenital CMV. Guinea pig cytomegalovirus (GPCMV) potentially encodes a UL128-131 HCMV PC homolog locus (GP128-GP133). In transient expression studies, GPCMV gH and gL glycoproteins interacted with UL128, UL130 and UL131 homolog proteins (designated GP129 and GP131 and GP133 respectively) to form PC or subcomplexes which were determined by immunoprecipitation reactions directed to gH or gL. A natural GP129 C-terminal deletion mutant (aa 107-179) and a chimeric HCMV UL128 C-terminal domain swap GP129 mutant failed to form PC with other components. GPCMV infection of a newly established guinea pig epithelial cell line required a complete PC and a GP129 mutant virus lacked epithelial tropism and was attenuated in the guinea pig for pathogenicity and had a low congenital transmission rate. Individual knockout of GP131 or 133 genes resulted in loss of viral epithelial tropism. A GP128 mutant virus retained epithelial tropism and GP128 was determined not to be a PC component. A series of GPCMV mutants demonstrated that gO was not strictly essential for epithelial infection whereas gB and the PC were essential. Ectopic expression of a GP129 cDNA in a GP129 mutant virus restored epithelial tropism, pathogenicity and congenital infection. Overall, GPCMV forms a PC similar to HCMV which enables evaluation of PC based vaccine strategies in the guinea pig model.

  19. Branchial anomalies in children.

    Science.gov (United States)

    Bajaj, Y; Ifeacho, S; Tweedie, D; Jephson, C G; Albert, D M; Cochrane, L A; Wyatt, M E; Jonas, N; Hartley, B E J

    2011-08-01

    Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years. All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study. In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome. Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type

  20. Exposure to misoprostol and hormones during pregnancy and risk of congenital anomalies Exposição ao misoprostol e hormônios durante a gravidez e risco de anomalia congênita

    Directory of Open Access Journals (Sweden)

    Tatiane da Silva Dal Pizzol

    2008-06-01

    Full Text Available This study evaluated the association between use of misoprostol and other drugs to induce menstruation, and congenital anomalies. A sample of 4,856 pregnant women 20 years and older were enrolled consecutively in prenatal services in the Unified National Health System, in six Brazilian State capitals. Data on socio-demographics and use of medicines were obtained using an interview from the 21st to 28th week of pregnancy. Other data, including information on delivery and diagnosis of congenital anomalies by the attending neonatal physician were obtained from patient charts. Potential confounders were adjusted by logistic regression. Use of drugs to induce menstruation was reported by 707 women (14.6%, of whom 120 (17% reported use of misoprostol. After adjusting for the study center, a positive association was observed between misoprostol and congenital anomalies (OR = 2.64; 95%CI: 1.03-6.75; a positive association was also observed for sex hormones (OR = 2.24; 95%CI: 1.06-4.74. The results suggest that the use of misoprostol or sex hormones during pregnancy increases the risk of congenital anomalies.Este estudo avalia a associação do uso do misoprostol e de outros produtos utilizados para induzir a menstruação com anomalia congênita. Foram arroladas consecutivamente 4.856 mulheres com vinte anos de idade ou mais, procedentes de serviços de pré-natal do Sistema Único de Saúde em seis capitais brasileiras. Dados sócio-demográficos e o uso de medicamentos foram obtidos por meio de entrevista, entre a 21ª e a 28ª semanas de gestação. Outros dados, incluindo informações sobre o parto e o diagnóstico de anomalia congênita, realizado pelo médico que assistiu o recém-nascido, foram obtidos no prontuário. Potenciais confundidores foram ajustados por meio de regressão logística. O uso de produtos para induzir a menstruação foi relatado por 707 gestantes (14,6%, das quais 120 (17% referiram-se ao misoprostol. Após ajustamento

  1. Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

    Science.gov (United States)

    Neuhäuser, G; Opitz, J M

    1975-11-13

    The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

  2. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies

    NARCIS (Netherlands)

    Oostra, R. J.; Baljet, B.; Verbeeten, B. W.; Hennekam, R. C.

    1998-01-01

    The Museum Vrolik collection of the Department of Anatomy and Embryology of the Academic Medical Center, University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 specimens of human and animal anatomy, embryology, pathology,

  3. Congenital coronary artery anomalies: a bridge from embryology to anatomy and pathophysiology—a position statement of the development, anatomy, and pathology ESC Working Group

    Czech Academy of Sciences Publication Activity Database

    Pérez-Pomares, J. M.; de la Pompa, J. L.; Franco, D.; Henderson, D.; Ho, S. Y.; Houyel, L.; Kelly, R. G.; Sedmera, David; Sheppard, M.; Sperling, S.; Thiene, G.; van den Hoff, M.; Basso, C.

    2016-01-01

    Roč. 109, č. 2 (2016), s. 204-216 ISSN 0008-6363 R&D Projects: GA ČR(CZ) GAP302/11/1308; GA ČR(CZ) GA13-12412S Institutional support: RVO:67985823 Keywords : coronary arteries * embryology * congenital heart disease * pathology * anatomy Subject RIV: FA - Cardiovascular Diseases incl. Cardiotharic Surgery Impact factor: 5.878, year: 2016

  4. Congenital Anomalies Associated with Trisomy 18 or Trisomy 13 : A Registry-Based Study in 16 European Countries, 2000-2011

    NARCIS (Netherlands)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K.

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and

  5. Congenital bronchobiliary fistula: MRI appearance

    International Nuclear Information System (INIS)

    Hourigan, Jon S.; Carr, Michael G.; Burton, Edward M.; Ledbetter, Joel C.

    2004-01-01

    Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences. (orig.)

  6. Gerbode defect and multivalvular dysfunction: Complex complications in adult congenital heart disease.

    Science.gov (United States)

    Ruivo, Catarina; Guardado, Joana; Montenegro Sá, Fernando; Saraiva, Fátima; Antunes, Alexandre; Correia, Joana; Morais, João

    2017-07-01

    We report a clinical case of a 40-year-old male with surgically corrected congenital heart disease (CHD) 10 years earlier: closure of ostium primum, mitral annuloplasty, and aortic valve and root surgery. The patient was admitted with acute heart failure. Transesophageal echocardiography (TEE) revealed a dysmorphic and severely incompetent aortic valve, a partial tear of the mitral valve cleft repair and annuloplasty ring dehiscence. A true left ventricular-to-right atrial shunt confirmed a direct Gerbode defect. The authors aim to discuss the diagnostic challenge of adult CHD, namely the key role of TEE on septal defects and valve regurgitations description. © 2017, Wiley Periodicals, Inc.

  7. Sickle cell disease and complex congenital cardiac surgery: a case report and review of the pathophysiology and perioperative management.

    Science.gov (United States)

    Sanders, D B; Smith, B P; Sowell, S R; Nguyen, D H; Derby, C; Eshun, F; Nigro, J J

    2014-03-01

    Sickle cell anemia and thalassemia are hemoglobinopathies rarely encountered in the United States. Compounded with congenital heart disease, patients with sickle cell disease (SCD) requiring cardiopulmonary bypass and open-heart surgery represent the proverbial "needle in the haystack". As such, there is some trepidation on the part of clinicians when these patients present for complex cardiac surgery. SCD is an autosomal, recessive condition that results from a single nucleotide polymorphism in the β-globin gene. Hemoglobin SS molecules (HgbSS) with this point mutation can polymerize under the right conditions, stiffening the erythrocyte membrane and distorting the cellular structure to the characteristic sickle shape. This shape change alters cellular transit through the microvasculature. As a result, circumstances such as hypoxia, hypothermia, acidosis or diminished blood flow can lead to aggregation, vascular occlusion and thrombosis. Chronically, SCD can give rise to multiorgan damage secondary to hemolysis and vascular obstruction. This review and case study details an 11-year-old African-American male with known SCD who presented to the cardiothoracic surgical service with congenital heart disease consisting of an anomalous, intramural right coronary artery arising from the left coronary sinus for surgical consultation and subsequent surgical correction. This case report will include a review of the pathophysiology and current literature regarding preoperative, intraoperative and postoperative management of SCD patients.

  8. Magnetic resonance imaging of congenital heart disease at 0.3 T

    Energy Technology Data Exchange (ETDEWEB)

    Malmgren, N

    1995-11-01

    The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs.

  9. Magnetic resonance imaging of congenital heart disease at 0.3 T

    International Nuclear Information System (INIS)

    Malmgren, N.

    1995-11-01

    The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs

  10. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  11. [3.0 T MRI with a high resolution protocol for the study of benign disease of the anus and rectum. Part one: High resolution protocol for 3.0 T MRI, anatomic review, benign tumors, and congenital or acquired alterations of the sphincter complex].

    Science.gov (United States)

    Herráiz Hidalgo, L; Cano Alonso, R; Carrascoso Arranz, J; Álvarez Moreno, E; Martínez de Vega Fernández, V

    2014-01-01

    Benign anorectal disease comprises a broad group of processes with very diverse origins; these processes may be congenital or acquired as well as inflammatory or tumor related. However, benign anorectal disease has received less attention in the scientific literature than malignant disease. We present an image-based review of the most common benign diseases of the anus and rectum. In this first part, we review the anatomy of the region and provide a brief description of the peculiarities of the high resolution protocol that we use with 3.0 T MRI. We go on to describe the most common benign anorectal tumors and developmental cystic lesions, together with their differential diagnoses, as well as congenital and acquired anomalies of the anorectal sphincter complex. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  12. Identifying improvements to complex pathways: evidence synthesis and stakeholder engagement in infant congenital heart disease.

    Science.gov (United States)

    Crowe, Sonya; Knowles, Rachel; Wray, Jo; Tregay, Jenifer; Ridout, Deborah A; Utley, Martin; Franklin, Rodney; Bull, Catherine L; Brown, Katherine L

    2016-06-06

    Many infants die in the year following discharge from hospital after surgical or catheter intervention for congenital heart disease (3-5% of discharged infants). There is considerable variability in the provision of care and support in this period, and some families experience barriers to care. We aimed to identify ways to improve discharge and postdischarge care for this patient group. A systematic evidence synthesis aligned with a process of eliciting the perspectives of families and professionals from community, primary, secondary and tertiary care. UK. A set of evidence-informed recommendations for improving the discharge and postdischarge care of infants following intervention for congenital heart disease was produced. These address known challenges with current care processes and, recognising current resource constraints, are targeted at patient groups based on the number of patients affected and the level and nature of their risk of adverse 1-year outcome. The recommendations include: structured discharge documentation, discharging certain high-risk patients via their local hospital, enhanced surveillance for patients with certain (high-risk) cardiac diagnoses and an early warning tool for parents and community health professionals. Our recommendations set out a comprehensive, system-wide approach for improving discharge and postdischarge services. This approach could be used to address challenges in delivering care for other patient populations that can fall through gaps between sectors and organisations. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  13. The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association

    Energy Technology Data Exchange (ETDEWEB)

    Petrushkina, N. P.; Koshurnikova, N. A.; Okatenko, P. V.

    2004-07-01

    For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns

  14. The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association

    International Nuclear Information System (INIS)

    Petrushkina, N. P.; Koshurnikova, N. A.; Okatenko, P. V.

    2004-01-01

    For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns one

  15. Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

    Directory of Open Access Journals (Sweden)

    Fernando Cristo

    2017-12-01

    Full Text Available A human iPSC line was generated from exfoliated renal epithelial (ERE cells of a patient affected with Congenital Heart Disease (CHD and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.

  16. Distribution of radioactive anomalies at Morro do Ferro hill in Pocos de Caldas Alkaline Complex, MG

    International Nuclear Information System (INIS)

    Fujimori, K.

    1980-10-01

    Sistematic radiation intensity measurements were alone at Morro do Ferro hill in the Pocos de Caldas Alkaline Complex, using portable Scintrex spectrometer for U, Th, K and total counting (TC). Complementary geochemical analyses were alone on selected 26 samples. It was observed that there are many radiation focii in that place and they are oriented in the E-W direction. The geochemical analyses show that Uranium has participated also in the inicial mineralization of radioactive elements. The contribution of 238 U series daugher elements is relatively strong although Uranium was 'washed' by leaching. (Author) [pt

  17. Treatment of Children with Protein – Losing Enteropathy After Fontan and Other Complex Congenital Heart Disease Procedures in Condition with Limited Human and Technical Resources

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Zeka, Naim; Bejiqi, Hana; Vuqiterna, Armend; Maloku, Arlinda

    2014-01-01

    Background Protein-losing enteropathy (PLE) is a disorder characterized by abnormal and often profound enteric protein loss. It’s relatively uncommon complication of Fontan and other complex congenital heart disease (CCHD) procedures. Because of the complexity and rarity of this disease process, the pathogenesis and pathophysiology of protein-losing enteropathy remain poorly understood, and attempts at treatment seldom yield long-term success. Aim of presentation is to describe single centre ...

  18. Potential implications of the helical heart in congenital heart defects.

    Science.gov (United States)

    Corno, Antonio F; Kocica, Mladen J

    2007-01-01

    The anatomic and functional observations made by Francisco Torrent-Guasp, in particular his discovery of the helical ventricular myocardial band (HVMB), have challenged what has been taught to cardiologists and cardiac surgeons over centuries. A literature debate is ongoing, with interdependent articles and comments from supporters and critics. Adequate understanding of heart structure and function is obviously indispensable for the decision-making process in congenital heart defects. The HVMB described by Torrent-Guasp and the potential impact on the understanding and treatment of congenital heart defects has been analyzed in the following settings: embryology, ventriculo-arterial discordance (transposition of great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and other congenital heart defects. The common structural spiral feature is only one of the elements responsible for the functional interaction of right and left ventricles, and understanding the form/function relationship in congenital heart defects is more difficult than for acquired heart disease because of the variety and complexity of congenital heart defects. Individuals involved in the care of patients with congenital heart defects have to be stimulated to consider further investigations and alternative surgical strategies.

  19. Maternal age-specific risk of non-chromosomal anomalies

    NARCIS (Netherlands)

    Loane, M.; Dolk, H.; Morris, Joan K.

    To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004.

  20. Maternal age-specific risk of non-chromosomal anomalies

    DEFF Research Database (Denmark)

    Loane, M; Dolk, H; Morris, J K

    2009-01-01

    OBJECTIVES: To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. DESIGN AND SETTING: Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.7...

  1. Congenital maxillary double lip

    Directory of Open Access Journals (Sweden)

    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  2. Evaluation of obstructive airway lesions in complex congenital heart disease using composite volume-rendered images from multislice CT

    International Nuclear Information System (INIS)

    Choo, Ki Seok; Kim, Chang Won; Lee, Tae Hong; Kim, Suk; Kim, Kun Il; Lee, Hyoung Doo; Ban, Ji Eun; Sung, Si Chan; Chang, Yun Hee

    2006-01-01

    Multislice CT (MSCT) allows high-quality volume-rendered (VR) and composite volume-rendered images. To investigate the clinical usefulness of composite VR images in the evaluation of the relationship between cardiovascular structures and the airway in children with complex congenital heart disease (CHD). Four- or 16-slice MSCT scanning was performed consecutively in 77 children (mean age 6.4 months) with CHD and respiratory symptoms, a chest radiographic abnormality, or abnormal course of the pulmonary artery on ECHO. MSCT scanning was performed during breathing or after sedation. Contrast medium (2 ml/kg) was administered through a pedal venous route or arm vein in all patients. The VR technique was used to reconstruct the cardiovascular structures and airway, and then both VR images were composed using the commercial software (VoxelPlus 2 ; Daejeon, Korea). Stenoses were seen in the trachea in 1 patient and in the bronchi in 14 patients (19%). Other patients with complex CHD did not have significant airway stenoses. Composite VR images with MSCT can provide more exact airway images in relationship to the surrounding cardiovascular structures and thus help in optimizing management strategies in treating CHD. (orig.)

  3. Innovación en la reconstrucción del pabellón auricular disgenésico con tejido expandido e implante Innovation in congenital auricular anomaly reconstruction using expanded tissue and prosthetic material

    Directory of Open Access Journals (Sweden)

    P. Iwanyk

    2007-06-01

    Full Text Available En la reconstrucción de un pabellón auricular disgenésico se plantean, básicamente, dos desafíos, reproducir un esqueleto cartilaginoso auricular de forma, tamaño y proyección similar al pabellón auricular normal, y obtener piel suficiente que combine color, textura y grosor semejante a la circundante. Debido a la escasa cantidad de piel útil en esta localización y a la dificultad en el tallado del esqueleto cartilaginoso auricular, iniciamos en 2005 en nuestro Hospital la reconstrucción auricular mediante combinación de tejidos expandidos locales y materiales protésicos, logrando un excelente resultado de apariencia natural.Reconstruction of congenital auricular anomalies includes two essential challenges. The first one is to sculpt an auricular cartilaginous structure that matches the shape, size and projection of a standard ear. The second challenge arises from the scarcity of the usable skin in the area. Because of the difficulty of sculpting a proper cartilage framework and the scarce quantity of skin in the area, in 2005 we began in our hospital auricular reconstruction procedure combining tissue expanders and prosthetic materials achieving a natural appearance and an excellent result.

  4. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: Outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome

    Science.gov (United States)

    Silversides, Candice K; Beauchesne, Luc; Bradley, Timothy; Connelly, Michael; Niwa, Koichiro; Mulder, Barbara; Webb, Gary; Colman, Jack; Therrien, Judith

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the management of adults with CHD, there have been significant advances in the field of adult CHD. Therefore, new clinical guidelines have been written by Canadian adult CHD physicians in collaboration with an international panel of experts in the field. Part II of the guidelines includes recommendations for the care of patients with left ventricular outflow tract obstruction and bicuspid aortic valve disease, coarctation of the aorta, right ventricular outflow tract obstruction, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome. Topics addressed include genetics, clinical outcomes, recommended diagnostic workup, surgical and interventional options, treatment of arrhythmias, assessment of pregnancy risk and follow-up requirements. The complete document consists of four manuscripts that are published online in the present issue of The Canadian Journal of Cardiology. The complete document and references can also be found at www.ccs.ca or www.cachnet.org. PMID:20352138

  5. Coexistence of bilateral first and second branchial arch anomalies

    Science.gov (United States)

    Thakur, J S; Shekar, Vidya; Saluja, Manika; Mohindroo, N K

    2013-01-01

    Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two non-syndromic cases of coexisting bilateral first and second arch anomalies. Developmental anomalies of the branchial apparatus account for 17% of all paediatric cervical masses and are the most common type of congenital cervical mass. They usually present in the paediatric age group. About 96–97% of these anomalies are unilateral. Bilateral presentation is seen in 2–3% having a strong familial association. Congenital syndromes also have been associated with first and second branchial arch anomalies. Thorough clinical examination and investigations should be done to rule out these syndromes. PMID:23580675

  6. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

    Science.gov (United States)

    Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

    2014-12-01

    Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient. © 2014 Wiley Periodicals, Inc.

  7. Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies

    DEFF Research Database (Denmark)

    Muzyamba, Morris; Farzaneh, Tabasum; Behe, Phillip

    2007-01-01

    nonfunctional. Combining the two mutations (SUR1D1193V/R1436Q) led to intracellular retention of the channel complex. In a second family, the patient had histologically focal disease and was heterozygous for two mutations from his father (G228D and D1471N) and one from his mother (V1572I). SUR1 G228D and D1471N...

  8. Cryo-EM Structure of a KCNQ1/CaM Complex Reveals Insights into Congenital Long QT Syndrome.

    Science.gov (United States)

    Sun, Ji; MacKinnon, Roderick

    2017-06-01

    KCNQ1 is the pore-forming subunit of cardiac slow-delayed rectifier potassium (I Ks ) channels. Mutations in the kcnq1 gene are the leading cause of congenital long QT syndrome (LQTS). Here, we present the cryoelectron microscopy (cryo-EM) structure of a KCNQ1/calmodulin (CaM) complex. The conformation corresponds to an "uncoupled," PIP 2 -free state of KCNQ1, with activated voltage sensors and a closed pore. Unique structural features within the S4-S5 linker permit uncoupling of the voltage sensor from the pore in the absence of PIP 2 . CaM contacts the KCNQ1 voltage sensor through a specific interface involving a residue on CaM that is mutated in a form of inherited LQTS. Using an electrophysiological assay, we find that this mutation on CaM shifts the KCNQ1 voltage-activation curve. This study describes one physiological form of KCNQ1, depolarized voltage sensors with a closed pore in the absence of PIP 2 , and reveals a regulatory interaction between CaM and KCNQ1 that may explain CaM-mediated LQTS. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  10. Selective cerebro-myocardial perfusion in complex congenital aortic arch pathology: a novel technique.

    Science.gov (United States)

    De Rita, Fabrizio; Lucchese, Gianluca; Barozzi, Luca; Menon, Tiziano; Faggian, Giuseppe; Mazzucco, Alessandro; Luciani, Giovanni Battista

    2011-11-01

    Simultaneous cerebro-myocardial perfusion has been described in neonatal and infant arch surgery, suggesting a reduction in cardiac morbidity. Here reported is a novel technique for selective cerebral perfusion combined with controlled and independent myocardial perfusion during surgery for complex or recurrent aortic arch lesions. From April 2008 to April 2011, 10 patients with arch pathology underwent surgery (two hypoplastic left heart syndrome [HLHS], four recurrent arch obstruction, two aortic arch hypoplasia + ventricular septal defect [VSD], one single ventricle + transposition of the great arteries + arch hypoplasia, one interrupted aortic arch type B + VSD). Median age was 63 days (6 days-36 years) and median weight 4.0 kg (1.6-52). Via midline sternotomy, an arterial cannula (6 or 8 Fr for infants) was directly inserted into the innominate artery or through a polytetrafluoroethylene (PTFE) graft (for neonates cerebro-myocardial perfusion was 39 ± 18 min (17-69). Weaning from cardiopulmonary bypass was achieved without inotropic support in three and with low dose in seven patients. One patient required veno-arterial extracorporeal membrane oxygenation. Four patients, body weight cerebro-myocardial perfusion is feasible in patients with complex or recurrent aortic arch disease, starting from premature newborn less than 2.0 kg of body weight to adults. The technique is as safe as previously reported methods of cerebro-myocardial perfusion and possibly more versatile. © 2011, Copyright the Authors. Artificial Organs © 2011, International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc.

  11. Congenital malformations in paediatric and neurosurgical practices ...

    African Journals Online (AJOL)

    Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report) ... Open Access DOWNLOAD FULL TEXT ... over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria.

  12. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  13. Congenital Absence of Left Circumflex Artery Detected by Computed Tomography Coronary Angiography: A Case Report

    Directory of Open Access Journals (Sweden)

    Keerati Hongsakul

    2012-01-01

    Full Text Available The congenital absence of the left circumflex artery (LCx is a very rare congenital anomaly of coronary arteries, but it is benign. Currently, the best modality for the diagnosis of coronary anomalies is computed tomography coronary angiography (CTCA. We report a case of congenitally absent LCx with an atypical chest pain.

  14. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  15. Comorbid Conditions in Neonates With Congenital Heart Disease.

    Science.gov (United States)

    Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

    2016-08-01

    The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

  16. Radiographic assessment of congenital malformations of the upper extremity

    International Nuclear Information System (INIS)

    Winfeld, Matthew J.; Otero, Hansel

    2016-01-01

    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.)

  17. 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.)

  18. Gravitational anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Leutwyler, H; Mallik, S

    1986-12-01

    The effective action for fermions moving in external gravitational and gauge fields is analyzed in terms of the corresponding external field propagator. The central object in our approach is the covariant energy-momentum tensor which is extracted from the regular part of the propagator at short distances. It is shown that the Lorentz anomaly, the conformal anomaly and the gauge anomaly can be expressed in terms of the local polynomials which determine the singular part of the propagator. (There are no coordinate anomalies). Except for the conformal anomaly, for which we give explicit representations only in dless than or equal to4, we consider an arbitrary number of dimensions.

  19. Three-dimensional-printed cardiac prototypes aid surgical decision-making and preoperative planning in selected cases of complex congenital heart diseases: Early experience and proof of concept in a resource-limited environment

    Directory of Open Access Journals (Sweden)

    Mahesh Kappanayil

    2017-01-01

    Conclusions: 3D-printed cardiac prototypes can radically assist decision-making, planning, and safe execution of complex congenital heart surgery by improving understanding of 3D anatomy and allowing anticipation of technical challenges.

  20. Congenital Amputation Involving the Hands and Feet: A Case Report

    African Journals Online (AJOL)

    There were forefoot amputations on both lower limbs. Scars were noticed over the amputation stumps with no associated congenital anomaly. Conclusion: Congenital amputation involving all limbs as an isolated entity is a rare condition; the cause of which is probably as a result of congenital amniotic bands. Keywords: ...

  1. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

    textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD

  2. Morning glory disc anomaly: A case report | Saraswat | Nigerian ...

    African Journals Online (AJOL)

    Morning glory disc anomaly: A case report. Neeraj K. Saraswat, Ravi Ranjan, Dipendra Shukla, Sushil Ojha. Abstract. A rare case of congenital anomaly of the optic disc is presented to draw attention to the occurrence of this anomaly in rural India. The typical case presented with excavated, enlarged colobomatous optic ...

  3. Regional Variations in the Prevalence of Major Congenital Malformations in Quebec: The Importance of Fetal Growth Environment.

    Science.gov (United States)

    Zhao, Jin-Ping; Sheehy, Odile; Bérard, Anick

    2015-01-01

    Congenital anomalies are the consequence of a complex interaction between genetic predisposition and fetal environment. Based on the Congenital Anomalies Surveillance in Canada Report, between 1998 and 2007 the rate of congenital heart defects in Quebec was significantly higher than the Canadian average; no data on the overall prevalence of congenital anomalies for Quebec or data on regional variations in any province are available. To estimate the prevalence of major congenital malformations (MCMs) in all of the 17 administrative regions of Quebec. Using data from the Quebec Pregnancy Cohort, we included infants if they were born between January 1, 1998 and December 31, 2008. MCMs were identified within the infant's first year of life using validated ICD-9 and ICD-10 codes. The rate of MCMs was calculated and stratified on Quebec's administrative regions. Among 152,353 eligible infants, the prevalence of MCMs was 36.6 (all rates were reported as per 1,000 live births). The regions with the highest rate of MCMs were Lanaudière (48.1), Laval (45.8), and Mauricie (45.1). Regions with the lowest rate were Outaouais (13.4), Côte-Nord (19.1), Abitibi-Témiscamingue (27.5), Gaspésie-îles-de-la-Madeleine (27.9), and Saguenay-Lac-Saint-Jean (28.9). Congenital heart defects (10.3) and musculoskeletal anomalies (12.6) were the most common. Laval had the highest rate of heart defects (16.1), and Lanaudière had the highest rate of musculoskeletal anomalies (22.0). The central regions of Quebec had high rate of MCMs, whereas the relatively genetically homogenous peripheral regions of Quebec had lower rate of MCM, suggesting the importance of fetal growth environment in the etiology of MCMs in Quebec.

  4. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  5. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

    McGivern, Mark R.; Best, Kate E.; Rankin, Judith

    2015-01-01

    INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

  6. Effects of eHealth physical activity encouragement in adolescents with complex congenital heart disease: The PReVaiL randomized clinical trial.

    Science.gov (United States)

    Klausen, Susanne Hwiid; Andersen, Lars L; Søndergaard, Lars; Jakobsen, Janus Christian; Zoffmann, Vibeke; Dideriksen, Kasper; Kruse, Anne; Mikkelsen, Ulla Ramer; Wetterslev, Jørn

    2016-10-15

    To assess benefit and harms of adding an eHealth intervention to health education and individual counseling in adolescents with congenital heart disease. Randomized clinical trial. Denmark. A total of 158 adolescents aged 13-16years with no physical activity restrictions after repaired complex congenital heart disease. PReVaiL consisted of individually tailored eHealth encouragement physical activity for 52weeks. All patients received 45min of group-based health education and 15min of individual counseling involving patients' parents. The primary outcome was maximal oxygen uptake (VO2 peak) at 52weeks after randomization. The secondary outcome was physical activity. Exploratory outcomes were generic and disease-specific questionnaires. In the intervention group, 58 patients (72%) completed the final test, but of those, only 46 (57%) fulfilled the compliance criteria of using the eHealth application for at least 2 consecutive weeks. In the control group, 61 patients (79%) completed both exercise tests. Adjusted for baseline values, the difference between the intervention group and the control group in mean VO2 peak at 1year was -0.65ml·kg(-1)·min(-1) (95% CI -2.66 to 1.36). Between-group differences at 1year in physical activity, generic health-related quality of life, and disease-specific quality of life were not statistically significant. Adding a tailored eHealth intervention to health education and individual counseling did not affect outcomes among adolescents with congenital heart disease. Our results do not support the use of this eHealth intervention in adolescents with complex congenital heart disease. Clinical trials.gov identifier: NCT01189981. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  8. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

    Directory of Open Access Journals (Sweden)

    Alexander H. Li

    2017-10-01

    Full Text Available Abstract Background Left-sided lesions (LSLs account for an important fraction of severe congenital cardiovascular malformations (CVMs. The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. Methods Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF, and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases. Gene variants that were not observed in a comparably sequenced control dataset of 5492 samples without severe CVM were then subjected to targeted validation in cases and parents. Whole exome sequencing data from 4593 individuals referred for clinical sequencing were used to bolster evidence for the role of candidate genes in CVMs and LSLs. Results Our analyses revealed 28 candidate variants in 27 genes, including 17 genes not previously associated with a human CVM disorder, and revealed diverse patterns of inheritance among LOF carriers, including 9 confirmed de novo variants in both novel and newly described human CVM candidate genes (ACVR1, JARID2, NR2F2, PLRG1, SMURF1 as well as established syndromic CVM genes (KMT2D, NF1, TBX20, ZEB2. We also identified two genes (DNAH5, OFD1 with evidence of recessive and hemizygous inheritance patterns, respectively. Within our clinical cohort, we also observed heterozygous LOF variants in JARID2 and SMAD1 in individuals with cardiac phenotypes, and collectively, carriers of LOF variants in our candidate genes had a four times higher odds of having CVM (odds ratio = 4.0, 95% confidence interval 2.5–6.5. Conclusions Our analytical strategy highlights the utility of bioinformatic resources, including human

  9. Holonomy anomalies

    International Nuclear Information System (INIS)

    Bagger, J.; Nemeschansky, D.; Yankielowicz, S.

    1985-05-01

    A new type of anomaly is discussed that afflicts certain non-linear sigma models with fermions. This anomaly is similar to the ordinary gauge and gravitational anomalies since it reflects a topological obstruction to the reparametrization invariance of the quantum effective action. Nonlinear sigma models are constructed based on homogeneous spaces G/H. Anomalies arising when the fermions are chiral are shown to be cancelled sometimes by Chern-Simons terms. Nonlinear sigma models are considered based on general Riemannian manifolds. 9 refs

  10. Congenital malformations of the external and middle ear: high-resolution CT findings of surgical import

    International Nuclear Information System (INIS)

    Swartz, J.D.; Faerber, E.N.

    1985-01-01

    The external auditory canal, middle ear, and bulk of the ossicular chain develop from the first branchial groove, first and second branchial arches, and first pharyngeal pouch. Embryologic development of these structures is complex and only rarely are two anomalies identical. This study includes 11 cases of unilateral external auditory canal atresia and two cases of bilateral atresia. Eight cases (four bilateral) of isolated congenital ossicular anomalies are also included. Emphasis is placed on findings of surgical import. All patients were studied with computed tomography only, because it was believed that the bony and soft-tissue detail achieved is superior to that with conventional multidirectional tomography

  11. Middle Miocene paleotemperature anomalies within the Franciscan Complex of northern California: Thermo-tectonic responses near the Mendocino triple junction

    Science.gov (United States)

    Underwood, M.B.; Shelton, K.L.; McLaughlin, R.J.; Laughland, M.M.; Solomon, R.M.

    1999-01-01

    This study documents three localities in the Franciscan accretionary complex of northern California, now adjacent to the San Andreas fault, that were overprinted thermally between 13.9 and 12.2 Ma: Point Delgada-Shelter Cove (King Range terrane); Bolinas Ridge (San Bruno Mountain terrane); and Mount San Bruno (San Bruno Mountain terrane). Vein assemblages of quartz, carbonate, sulfide minerals, and adularia were precipitated locally in highly fractured wall rock. Vitrinite reflectance (Rm) values and illite crystallinity decrease away from the zones of metalliferous veins, where peak wall-rock temperatures, as determined from Rm, were as high as 315??C. The ??18O values of quartz and calcite indicate that two separate types of fluid contributed to vein precipitation. Higher ??18O fluids produced widespread quartz and calcite veins that are typical of the regional paleothermal regime. The widespread veins are by-products of heat conduction and diffuse fluid flow during zeolite and prehnite-pumpellyite-grade metamorphism, and we interpret their paleofluids to have evolved through dehydration reactions and/or extensive isotopic exchange with accreted Franciscan rocks. Lower ??18O fluids, in contrast, evolved from relatively high temperature exchange between seawater (or meteoric water) and basaltic and/or sedimentary host rocks; focused flow of those fluids resulted in local deposition of the metalliferous veins. Heat sources for the three paleothermal anomalies remain uncertain and may have been unrelated to one another. Higher temperature metalliferous fluids in the King Range terrane could have advected either from a site of ridge-trench interaction north of the Mendocino fracture zone or from a "slabless window" in the wake of the northward migrating Mendocino triple junction. A separate paradox involves the amount of Quaternary offset of Franciscan basement rocks near Shelter Cove by on-land faults that some regard as the main active trace of the San Andreas

  12. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

  13. Fetal Exposure to Montelukast and Congenital Anomalies

    DEFF Research Database (Denmark)

    Cavero-Carbonell, Clara; Vinkel-Hansen, Anne; Rabanque-Hernández, Mª José

    2017-01-01

    BACKGROUND: The objective was to study pregnancy outcomes between groups of Danish women, with pregnancy ending between 1998 and 2009, according to their exposure to montelukast. METHODS: Cross-sectional observational study in Danish women, selecting live births and stillbirths (Birth Registry) a...

  14. Case Report - Facial dysmorphism, skeletal anomalies, congenital ...

    African Journals Online (AJOL)

    Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly ...

  15. The currarino triad of anorectal, sacral, and presacral anomalies

    International Nuclear Information System (INIS)

    Kim, Jong Chul; Yeon, Kyung Mo

    1986-01-01

    The Currarino triad is a unique complex of congenital anomalies including anorectal including anorectal malformation, scral bony abnormality, and presacral mass. The usual symptomatology is constipation due to anorectal stenosis. Three patients with this triad confirmed by surgical operation during recent two years in Seoul National University Children's Hospital were presented with a brief review of clinical features, unique radiologic appearance and postulated pathophysiology. The presacral mass was a mature teratoma in the first patient, a lipomyelomeningocele-epidermoid inclusion cyst in the second patients, and myelomeningocele in the third patient. A correct diagnosis of the Currarino triad by radiologists is important, and may help the physicians to investigate detailed family history and associated anomalies and to establish adequate surgical plans.

  16. Neonatal outcomes in fetuses with cardiac anomalies and the impact of delivery route.

    Science.gov (United States)

    Parikh, Laura I; Grantz, Katherine L; Iqbal, Sara N; Huang, Chun-Chih; Landy, Helain J; Fries, Melissa H; Reddy, Uma M

    2017-10-01

    Congenital fetal cardiac anomalies compromise the most common group of fetal structural anomalies. Several previous reports analyzed all types of fetal cardiac anomalies together without individualized neonatal morbidity outcomes based on cardiac defect. Mode of delivery in cases of fetal cardiac anomalies varies greatly as optimal mode of delivery in these complex cases is unknown. We sought to determine rates of neonatal outcomes for fetal cardiac anomalies and examine the role of attempted route of delivery on neonatal morbidity. Gravidas with fetal cardiac anomalies and delivery >34 weeks, excluding stillbirths and aneuploidies (n = 2166 neonates, n = 2701 cardiac anomalies), were analyzed from the Consortium on Safe Labor, a retrospective cohort study of electronic medical records. Cardiac anomalies were determined using International Classification of Diseases, Ninth Revision codes and organized based on morphology. Neonates were assigned to each cardiac anomaly classification based on the most severe cardiac defect present. Neonatal outcomes were determined for each fetal cardiac anomaly. Composite neonatal morbidity (serious respiratory morbidity, sepsis, birth trauma, hypoxic ischemic encephalopathy, and neonatal death) was compared between attempted vaginal delivery and planned cesarean delivery for prenatal and postnatal diagnosis. We used multivariate logistic regression to calculate adjusted odds ratio for composite neonatal morbidity controlling for race, parity, body mass index, insurance, gestational age, maternal disease, single or multiple anomalies, and maternal drug use. Most cardiac anomalies were diagnosed postnatally except hypoplastic left heart syndrome, which had a higher prenatal than postnatal detection rate. Neonatal death occurred in 8.4% of 107 neonates with conotruncal defects. Serious respiratory morbidity occurred in 54.2% of 83 neonates with left ventricular outflow tract defects. Overall, 76.3% of pregnancies with fetal

  17. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  18. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  19. Fourth Branchial Anomaly Presenting with a Lateral Neck Mass in a Neonate

    OpenAIRE

    Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Kim, Hyun-Young; Park, Kwi-Won

    2014-01-01

    Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

  20. Fourth branchial anomaly presenting with a lateral neck mass in a neonate.

    Science.gov (United States)

    Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Kim, Hyun-Young; Park, Kwi-Won

    2014-01-01

    Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

  1. Bifid rib: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Mythili Krishnan Rathinasabapathi

    2015-01-01

    Full Text Available A case of the bifid rib was found during routine bone study. The distal part of the osseous rib bifurcated into two divisions with an angle of 60°. Both divisions had their own costal cartilage. Bifid rib is a congenital abnormality of the rib cage and usually asymptomatic, often discovered incidentally on chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties and neurological limitations.

  2. AdS solutions in gauge supergravities and the global anomaly for the product of complex two-cycles

    Energy Technology Data Exchange (ETDEWEB)

    Bytsenko, A.A. [Universidade Estadual de Londrina, Departamento de Fisica, Caixa Postal 6001, Londrina-Parana (Brazil); Elizalde, E. [Universitat Autonoma de Barcelona, Consejo Superior de Investigaciones Cientificas (ICE/CSIC) and Institut d' Estudis Espacials de Catalunya (IEEC), Facultat de Ciencies, Bellaterra (Barcelona) (Spain)

    2011-03-15

    Cohomological methods are applied for the special set of solutions corresponding to rotating branes in arbitrary dimensions, AdS black holes (which can be embedded in ten or eleven dimensions), and gauge supergravities. A new class of solutions is proposed, the Hilbert modular varieties, which consist of the 2n-fold product of the two-spaces H{sup n} /{gamma} (where H{sup n} denotes the product of n upper half-planes, H {sup 2}, equipped with the co-compact action of {gamma} is contained in SL(2, R){sup n}) and (H {sup n}){sup *}/{gamma} (where (H {sup 2}){sup *}=H {sup 2}{gamma} and {gamma} is a congruence subgroup of SL(2, R) {sup n}). The cohomology groups of the Hilbert variety, which inherit a Hodge structure (in the sense of Deligne), are analyzed, as well as bifiltered sequences, weight and Hodge filtrations, and it is argued that the torsion part of the cuspidal cohomology is involved in the global anomaly condition. Indeed, in the presence of the cuspidal part, all cohomology classes can be mapped to the boundary of the space and the cuspidal contribution can be involved in the global anomaly condition. (orig.)

  3. A Case of Multiple Cardiovascular and Tracheal Anomalies Presented with Wolff-Parkinson-White Syndrome in a Middle-aged Adult.

    Science.gov (United States)

    Shi, Hyejin; Sohn, Sungmin; Wang, SungHo; Park, Sungrock; Lee, SangKi; Kim, Song Yi; Jeong, Sun Young; Kim, Changhwan

    2017-12-01

    Congenital cardiovascular anomalies, such as dextrocardia, persistent left superior vena cava (SVC), and pulmonary artery (PA) sling, are rare disorders. These congenital anomalies can occur alone, or coincide with other congenital malformations. In the majority of cases, congenital anomalies are detected early in life by certain signs and symptoms. A 56-year-old man with no previous medical history was admitted due to recurrent wide QRS complex tachycardia with hemodynamic collapse. A chest radiograph showed dextrocardia. After synchronized cardioversion, an electrocardiogram revealed Wolff-Parkinson-White (WPW) syndrome. Persistent left SVC, PA sling, and right tracheal bronchus were also detected by a chest computed tomography (CT) scan. He was diagnosed with paroxysmal supraventricular tachycardia (PSVT) associated with WPW syndrome, and underwent radiofrequency ablation. We reported the first case of situs solitus dextrocardia coexisting with persistent left SVC, PA sling and right tracheal bronchus presented with WPW and PSVT in a middle-aged adult. In patients with a cardiovascular anomaly, clinicians should consider thorough evaluation of possibly combined cardiovascular and airway malformations and cardiac dysrhythmia. © 2017 The Korean Academy of Medical Sciences.

  4. Penile Anomalies in Adolescence

    Directory of Open Access Journals (Sweden)

    Dan Wood

    2011-01-01

    Full Text Available This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as exstrophy/epispadias are discussed, including the psychological outcomes, common problems (such as corporal asymmetry, chordee, and scarring in this group, and surgical assessment for potential surgical candidates. The emergence of new surgical techniques continues to improve outcomes and potentially raises patient expectations. The importance of balanced discussion in conditions such as micropenis, including multidisciplinary support for patients, is important in order to achieve appropriate treatment decisions. Topical treatments may be of value, but in extreme cases, phalloplasty is a valuable option for patients to consider. In buried penis, the importance of careful assessment and, for the majority, a delay in surgery until puberty has completed is emphasised. In hypospadias patients, the variety of surgical procedures has complicated assessment of outcomes. It appears that true surgical success may be difficult to measure as many men who have had earlier operations are not reassessed in either puberty or adult life. There is also a brief discussion of acquired penile anomalies, including causation and treatment of lymphoedema, penile fracture/trauma, and priapism.

  5. Penile anomalies in adolescence.

    Science.gov (United States)

    Wood, Dan; Woodhouse, Christopher

    2011-03-07

    This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as exstrophy/epispadias) are discussed, including the psychological outcomes, common problems (such as corporal asymmetry, chordee, and scarring) in this group, and surgical assessment for potential surgical candidates. The emergence of new surgical techniques continues to improve outcomes and potentially raises patient expectations. The importance of balanced discussion in conditions such as micropenis, including multidisciplinary support for patients, is important in order to achieve appropriate treatment decisions. Topical treatments may be of value, but in extreme cases, phalloplasty is a valuable option for patients to consider. In buried penis, the importance of careful assessment and, for the majority, a delay in surgery until puberty has completed is emphasised. In hypospadias patients, the variety of surgical procedures has complicated assessment of outcomes. It appears that true surgical success may be difficult to measure as many men who have had earlier operations are not reassessed in either puberty or adult life. There is also a brief discussion of acquired penile anomalies, including causation and treatment of lymphoedema, penile fracture/trauma, and priapism.

  6. Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome.

    Science.gov (United States)

    Kapczuk, Karina; Iwaniec, Kinga; Friebe, Zbigniew; Kędzia, Witold

    2016-12-01

    To describe congenital malformations and coexisting disorders occurring in 125 Polish women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). The syndrome is defined as uterovaginal aplasia in female with normal 46,XX karyotype. A retrospective analysis of the clinical data of MRKHS patients diagnosed or treated at the Gynecology and Obstetrics Clinical Hospital of Poznan University of Medical Sciences between 2010 and 2015. Sixty-eight patients (54,4%) were found to have one or more coexisting anomalies. Thirty-eight patients (55,9% of cases with concomitant malformations, 30,4% of the entire study group) had coexisting anomalies of at least two organ systems. The most frequent extragenital malformations were skeletal anomalies found in 40 patients (32%) and renal anomalies found in 36 patients (28,8%). Fifty-seven patients (45,6%) were diagnosed with typical form (type 1) and 16 (12,8%) with the atypical form (type 2) of MRKHS. In the other 52 patients (41,6%) we diagnosed MURCS association. Five of our patients (4%) had karyotype abnormalities. Our study confirms complexity and clinical heterogeneity of MRKHS. Concomitant congenital malformations are present in about half of MRKHS women. A significant proportion of patients have coexisting anomalies of at least two organ systems. The most common coexisting findings are musculoskeletal and renal abnormalities. Chromosomal aberrations may be present in patients with either typical or atypical form of MRKHS. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

    International Nuclear Information System (INIS)

    Li Xin; Li Minglin; Yang Zhiyong

    1997-01-01

    To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

  8. Splenic Anomalies of Shape, Size, and Location: Pictorial Essay

    Directory of Open Access Journals (Sweden)

    Adalet Elcin Yildiz

    2013-01-01

    Full Text Available Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen are lobulations, notches, and clefts; the fusion and location anomalies of spleen are accessory spleen, splenopancreatic fusion, and wandering spleen; polysplenia can be associated with a syndrome. Splenosis and small spleen are acquired anomalies which are caused by trauma and sickle cell disease, respectively. These anomalies can be detected easily by using different imaging modalities including ultrasonography, computed tomography, magnetic resonance imaging, and also Tc-99m scintigraphy. In this pictorial essay, we review the imaging findings of these anomalies which can cause diagnostic pitfalls and be interpreted as pathologic processes.

  9. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  10. Usefulness of electrocardiography-gated dual-source computed tomography for evaluating morphological features of the ventricles in children with complex congenital heart defects

    International Nuclear Information System (INIS)

    Nakagawa, Motoo; Hara, Masaki; Sakurai, Keita; Asano, Miki; Shibamoto, Yuta; Ohashi, Kazuya

    2011-01-01

    Improved time resolution using dual-source computed tomography (DSCT) enabled adaptation of electrocardiography (ECG)-gated cardiac CT for children with a high heart rate. In this study, we evaluated the ability of ECG-gated DSCT (ECG-DSCT) to depict the morphological ventricular features in patients with congenital heart disease (CHD). Between August 2006 and March 2010, a total of 66 patients with CHD (aged 1 day to 9 years, median 11 months) were analyzed using ECG-DSCT. The type of anomaly was ventricular septal defect (VSD) in 32 (malaligned type in 20, perimembranous type in 7, supracristal type in 3, muscular type in 2), single ventricle (SV) in 11, and corrected transposition of the great arteries (cTGA) in 3. All patients underwent ECG-DSCT and ultrasonography (US). We evaluated the accuracy of diagnosing the type of VSD. For the cases with SV and cTGA, we evaluated the ability to depict anatomical ventricular features. In all 32 cases of VSD, DSCT could confirm the VSD defects, and the findings were identical to those obtained by US. Anatomical configurations of the SV and cTGA were correctly diagnosed, similar to that on US. Our study suggests that ECG-DSCT can clearly depict the configuration of ventricles. (author)

  11. FOETAL ULTRASOUND - NEUROECTODERMAL ANOMALIES IN RURAL PREGNANT WOMEN

    Directory of Open Access Journals (Sweden)

    Mala Venkata

    2016-06-01

    Full Text Available BACKGROUND A prospective clinical study to know the various types of congenital Neuroectodermal Anomalies on obstetric Ultrasound, in rural pregnant women. To reduce the maternal morbidity and mortality by early detection of these Congenital Neuroectodermal Anomalies. To calculate the incidence and prevalence of different types of Congenital Neuroectodermal Anomalies, in these rural pregnant women. To assist the obstetrician in taking decisions regarding the termination or continuation of the pregnancy in relation to the type of malformation and its prognosis. METHODS A prospective clinical study of Congenital Neuroectodermal Anomalies in 22,000 rural pregnant women coming to the Santhiram Medical College, Radiology Department for a routine obstetric scan. 44 cases of neuroectodermal anomalies were detected out of the 22000 cases, within an incidence of 2 per 1000 cases. Approximately 1 in every 500 cases showed an anomaly. RESULTS The most common lesions detected were hydrocephalus, and spina bifida followed by anencephaly. Association of these lesions with consanguinity, previous history of similar anomaly and intake of iron and folic acid tablets was noted. CONCLUSION Ultrasound is an excellent modality for the diagnosis and characterisation of the neuroectodermal anomalies. Its multiplanar imaging property along with real time image visualisation make it an excellent tool for the diagnosis and characterisation of these anomalies

  12. Common dental anomalies in cleft lip and palate patients.

    Science.gov (United States)

    Haque, Sanjida; Alam, Mohammad Khursheed

    2015-01-01

    Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies.

  13. Frequency changes of inherited anomalies in the Republic of Belarus after the Chernobyl accident

    Energy Technology Data Exchange (ETDEWEB)

    Lazjuk, G.I.; Kirillova, I.A.; Nikolaev, D.L.; Novikova, I.V.; Fomina, Z.N.; Khmel, R.D. [Belarus Institute for Hereditary Diseases, Minsk (Belarus)

    1995-12-31

    Complex cytogenetic, embryologic and clinical studies of possible genetic consequences of the Chernobyl nuclear accident for the population of Belarus have been carried out. They showed that groups of the population (pregnant women, fetuses, school children) had received biologically significant doses of radiation, as assessed by the registration of ring and dicentric chromosomes in blood lymphocytes. The study of more than 22,000 embryos and fetuses, and of 4090 neonates with compulsory registered congenital malformations, showed a considerable increase of anomalies of intrauterine origin since 1987. They correlated with the level of {sup 137}Cs contamination in the areas, but did not correlate with the preconception dose to the mother from the same radionuclide. Teratogenic effects of the Chernobyl pollution have not been conclusively idenitifed. The increase of embryonal anomalies was mainly due to the group of multifactorial defects, and to the anomalies with a large contribution from dominant mutations. The Down`s syndrome incidence showed to increase. (Author).

  14. Cake kidney: a rare anomaly of renal fusion

    Directory of Open Access Journals (Sweden)

    Guilherme Lippi Ciantelli

    2012-06-01

    Full Text Available ABSTRACT The cake kidney is a rare congenital anomaly of the urinogenital tract that can be diagnosed at any age. Few more than 20 cases have been described in the literature. The authors describe in this article another case of this rare malformation. Key-words: kidney, congenital abnormalities, rare diseases.

  15. Prevalence of dental anomalies in Indian population.

    Science.gov (United States)

    Patil, Santosh; Doni, Bharati; Kaswan, Sumita; Rahman, Farzan

    2013-10-01

    Developmental anomalies of the dentition are not infrequently observed by the dental practitioner. The aim of the present study was to determine the prevalence of dental anomalies in the Indian population. A retrospective study of 4133 panoramic radiographs of patients, who attended the Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital between September 2008 to December 2012 was done. The ages of the patients ranged from 13 to 38 years with a mean age of 21.8 years. The orthopantomographs (OPGs) and dental records were examined for any unusual finding such as congenitally missing teeth, impactions, ectopic eruption, supernumerary teeth, odontoma, dilacerations, taurodontism, dens in dente, germination and fusion, among others. 1519 (36.7%) patients had at least one dental anomaly. The congenitally missing teeth 673 (16.3%) had the highest prevalence, followed by impacted teeth 641 (15.5%), supernumerary teeth 51 (1.2%) and microdontia 41 (1.0%). Other anomalies were found at lower prevalence ranging from transposition 7 (0.1%) to ectopic eruption 30 (0.7%). The most prevalent anomaly in the Indian population was congenitally missing teeth (16.3%), and the second frequent anomaly was impacted teeth (15.5%), whereas, macrodontia, odontoma and transposition were the least frequent anomalies, with a prevalence of 0.2%, 0.2% and 0.1% respectively. While the overall prevalence of these anomalies may be low, the early diagnosis is imperative for the patient management and treatment planning. Key words:Dental anomaly, prevalence, panoramic radiography.

  16. The helical ventricular myocardial band of Torrent-Guasp: potential implications in congenital heart defects.

    Science.gov (United States)

    Corno, Antonio F; Kocica, Mladen J; Torrent-Guasp, Francisco

    2006-04-01

    The new concepts of cardiac anatomy and physiology, based on the observations made by Francisco Torrent-Guasp's discovery of the helical ventricular myocardial band, can be useful in the context of the surgical strategies currently used to manage patients with congenital heart defects. The potential impact of the Torrent-Guasp's Heart on congenital heart defects have been analyzed in the following settings: ventriculo-arterial discordance (transposition of the great arteries), double (atrio-ventricular and ventriculo-arterial) discordance (congenitally corrected transposition of the great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and complex intra-ventricular malformations. The functional interaction of right and left ventricles occurs not only through their arrangements in series but also thanks to the structural spiral features. Changes in size and function of either ventricle may influence the performance of the other ventricle. The variety and complexity of congenital heart defects make the recognition of the relationship between form and function a vital component, especially when compared to acquired disease. The new concepts of cardiac anatomy and function proposed by Francisco Torrent-Guasp, based on his observations, should stimulate further investigations of alternative surgical strategies by individuals involved with the management of patients with congenital heart defects.

  17. Congenital Symmastia: A 3-Step Approach

    OpenAIRE

    Sadaka, Mohamed Saad; Allam, Atef A.

    2016-01-01

    Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this con...

  18. Congenital Symmastia: A 3-Step Approach

    Science.gov (United States)

    Allam, Atef A.

    2016-01-01

    Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition. PMID:28293510

  19. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

    Science.gov (United States)

    Knierim, Ellen; Hirata, Hiromi; Wolf, Nicole I.; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schöneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Hübner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus

    2016-01-01

    Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex. We used autozygosity mapping and whole-exome sequencing to search for pathogenic mutations in four families. Affected individuals presented with prenatal-onset spinal muscular atrophy (SMA), multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. We identified homozygous and compound-heterozygous nonsense and frameshift TRIP4 and ASCC1 mutations that led to a truncation or the entire absence of the respective proteins and cosegregated with the disease phenotype. Trip4 and Ascc1 have identical expression patterns in 17.5-day-old mouse embryos with high expression levels in the spinal cord, brain, paraspinal ganglia, thyroid, and submandibular glands. Antisense morpholino-mediated knockdown of either trip4 or ascc1 in zebrafish disrupted the highly patterned and coordinated process of α-motoneuron outgrowth and formation of myotomes and neuromuscular junctions and led to a swimming defect in the larvae. Immunoprecipitation of the ASC-1 complex consistently copurified cysteine and glycine rich protein 1 (CSRP1), a transcriptional cofactor, which is known to be involved in spinal cord regeneration upon injury in adult zebrafish. ASCC1 mutant fibroblasts downregulated genes associated with neurogenesis, neuronal migration, and pathfinding (SERPINF1, DAB1, SEMA3D, SEMA3A), as well as with bone development (TNFRSF11B, RASSF2, STC1). Our findings indicate that the dysfunction of a transcriptional coactivator complex can result in a clinical syndrome affecting the neuromuscular system. PMID:26924529

  20. Congenital Complete Tracheal Ring in a Neonate: A Case Report

    Directory of Open Access Journals (Sweden)

    Esra ARUN ÖZER

    2017-09-01

    Full Text Available Abnormalities of the upper airway tract lead to congenital high airway obstruction and may complicate neonatal airway management in the delivery room. Congenital complete tracheal rings are a rare and unusual tracheal anomaly, usually presenting in the neonate or infant as respiratory distress. The clinical presentation can vary from almost asymptomatic patients to near-fatal airway obstruction. It may exist as an isolated entity, or in association with other congenital malformations, in particular, cardiac anomalies along with vascular rings and pulmonary slings. Other associated anomalies have also been reported, for example, chromosomal anomalies, malformation of other parts of the respiratory tract, esophagus and skeletal systems. Here, we report an extreme case of VACTERL/TACRD association presented with congenital complete tracheal ring, encephalocele, bilateral radial agenesis with absent thumbs, equinovalgus deformity on right foot, low-set ears and micrognathia.

  1. Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.

    Science.gov (United States)

    Moreadith, R W; Batshaw, M L; Ohnishi, T; Kerr, D; Knox, B; Jackson, D; Hruban, R; Olson, J; Reynafarje, B; Lehninger, A L

    1984-09-01

    We report the case of an infant with hypoglycemia, progressive lactic acidosis, an increased serum lactate/pyruvate ratio, and elevated plasma alanine, who had a moderate to profound decrease in the ability of mitochondria from four organs to oxidize pyruvate, malate plus glutamate, citrate, and other NAD+-linked respiratory substrates. The capacity to oxidize the flavin adenine dinucleotide-linked substrate, succinate, was normal. The most pronounced deficiency was in skeletal muscle, the least in kidney mitochondria. Enzymatic assays on isolated mitochondria ruled out defects in complexes II, III, and IV of the respiratory chain. Further studies showed that the defect was localized in the inner membrane mitochondrial NADH-ubiquinone oxidoreductase (complex I). When ferricyanide was used as an artificial electron acceptor, complex I activity was normal, indicating that electrons from NADH could reduce the flavin mononucleotide cofactor. However, electron paramagnetic resonance spectroscopy performed on liver submitochondrial particles showed an almost total loss of the iron-sulfur clusters characteristic of complex I, whereas normal signals were noted for other mitochondrial iron-sulfur clusters. This infant is presented as the first reported case of congenital lactic acidosis caused by a deficiency of the iron-sulfur clusters of complex I of the mitochondrial electron transport chain.

  2. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

    Freed, M.D.; Keane, J.F.

    1986-01-01

    Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

  3. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    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.) [de

  4. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  5. Renal anomalies associated with imperforate anus : case reports

    International Nuclear Information System (INIS)

    Nahar, Nurun; Nisa, Lutfun; Alam, F.; Karim, M.A.

    2002-01-01

    Four cases of renal anomaly associated with anorectal malformation are illustrated here. The findings highlight the importance of early diagnosis of renal disorders in the pediatric with congenital anomalies in order to prevent irreversible damage to the kidneys. The high sensitivity of radionuclide diagnostic imaging methods in the early diagnosis of renal disorders and evaluation of renal function in children is emphasized.(author)

  6. Situs anomalies on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Brugger, Peter C.; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L.; Graham, John M.; Prayer, Daniela

    2012-01-01

    Objective: Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. Materials and methods: This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Results: Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Conclusions: Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs.

  7. Benefits of Balloon-Dilatable Bilateral Pulmonary Artery Banding in Patients With Hypoplastic Left Heart Syndrome and Other Complex Cardiac Anomalies.

    Science.gov (United States)

    Kise, Hiroaki; Suzuki, Shoji; Hoshiai, Minako; Toda, Takako; Koizumi, Keiichi; Hasebe, Yohei; Kono, Yosuke; Honda, Yoshihiro; Kaga, Shigeaki; Sugita, Kanji

    2015-12-01

    The purpose of this study was to evaluate the potential of balloon-dilatable bilateral pulmonary artery banding (b-PAB) and its impact on the configuration of the pulmonary artery (PA). We have previously used balloon-dilatable b-PAB as first-stage palliation for patients with hypoplastic left heart syndrome (HLHS) and other complex cardiac anomalies. Two pliable tapes were placed around each branch of the PA and tightened with 7-0 polypropylene sutures in a manner that allowed for the subsequent adjustment of PA diameters. We retrospectively examined the adjustability of PA diameters by balloon dilation and the need for surgical PA angioplasty at later stages. From January 2010 to October 2013, we performed b-PAB in 8 patients, including 3 borderline cases between biventricular repair (BVR) and univentricular repair (UVR). The b-PAB procedures were performed at a median age of 6.5 days (range, 2-10 days). Balloon dilations were performed in 10 lesions in 4 patients. All of the procedures were performed safely. Two patients reached definite BVR. The remaining 6 patients underwent open palliative procedures with univentricular physiologies that resulted in 2 deaths unrelated to the initial b-PAB. In all but 1 of the patients, the PA configuration was properly maintained and did not require surgical pulmonary angioplasty. Balloon-dilatable b-PAB can be performed safely and prevents PA distortion at later stages. This technique should be considered for patients with complex cardiac anomalies if uncertainty exists regarding the optimal surgical strategy (BVR or UVR) in early infancy. © 2015, Wiley Periodicals, Inc.

  8. DOWN'S ANOMALY.

    Science.gov (United States)

    PENROSE, L.S.; SMITH, G.F.

    BOTH CLINICAL AND PATHOLOGICAL ASPECTS AND MATHEMATICAL ELABORATIONS OF DOWN'S ANOMALY, KNOWN ALSO AS MONGOLISM, ARE PRESENTED IN THIS REFERENCE MANUAL FOR PROFESSIONAL PERSONNEL. INFORMATION PROVIDED CONCERNS (1) HISTORICAL STUDIES, (2) PHYSICAL SIGNS, (3) BONES AND MUSCLES, (4) MENTAL DEVELOPMENT, (5) DERMATOGLYPHS, (6) HEMATOLOGY, (7)…

  9. 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...

  10. A study of dental anomalies

    International Nuclear Information System (INIS)

    Yang, Sook; Kim, Jae Duck

    1993-01-01

    The purpose of this study was to find out the prevalence of dental anomalies in 600 normal persons (male:363, female:237) at age 14 to 39 years, through history taking, oral examination, and radiographic observations of subjects. The obtained results were as follows: 1. The prevalence of individual dental anomalies were as follows; Congenitally missing teeth 7%; supernumerary teeth 1.33%; ectopic eruption 8.50%; transposition 0.33%; rotation 23.67%; microdontia 11.16% (peg lateral is 5.33%; third molar 5.83%); prolonged retention of deciduous teeth 1.33%; crowding 49.83%; and spacing 15.17%. 2. Alterations in numbers of teeth : The most frequently missing teeth were mandibular lateral incisors, followed by mandibular second premolars and maxillary second premolars. In numbers of congenitally missing teeth per person, 52.38% had one missing tooth and 30.95% had two missing teeth. In supernumerary teeth, there was higher rate in male than in female. Most supernumerary teeth were mesiodens of median area in maxilla and the eruption pattern of that teeth generally was unerupted state. 3. In transposition, exchange of position of teeth involved the canine and first premolar. 4. Congenital missing rate of permanent successors in prolonged retention of deciduous teeth was 69.23%. 5. Crowding and spacing had respectively higher rate in mandible and in maxilla.

  11. Evaluation of an Infant with Cholestasis and Congenital Hypopituitarism

    Directory of Open Access Journals (Sweden)

    Wahhaj Beg

    2017-10-01

    Full Text Available We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.

  12. Congenital Heart Diseases in Adults: A Review of Echocardiogram ...

    African Journals Online (AJOL)

    The most common congenital anomalies were ventricular septal defects (VSD) ‑ 31.3%, (36/115), atrial septal defects ‑ 28.7% (33/115) and tetralogy of fallot ‑ 10.4% (12/115). Conclusion: VSD are the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, Nigeria.

  13. You are never too old for a congenital disease!

    Directory of Open Access Journals (Sweden)

    Mukul Khanna

    2013-12-01

    Full Text Available Congenital diseases are sometimes overlooked by physicians because of their rarity or because of late onset of symptoms, which may delay treatment plans. This is illustrated in our patient who presented with dysphagia along with chest pain and who was found to have a congenital vascular anomaly, detected in her fifth decade of life.

  14. Chlorination disinfection by-products in drinking water and congenital anomalies: review and meta-analyses Subprodutos da desinfecção com cloro em água potável e anomalias congênitas: revisão e meta-análise

    Directory of Open Access Journals (Sweden)

    Mark J. Nieuwenhuijsen

    2010-10-01

    Full Text Available This study aims to review epidemiologic evidence of the association between exposure to chlorination disinfection by-products (DBPs and congenital anomalies. All epidemiologic studies that evaluated a relationship between an index of DBP exposure and risk of congenital anomalies were analyzed. For all congenital anomalies combined, the meta-analysis gave a statistically significant excess risk for high versus low exposure to water chlorination or TTHM (17%; 95% CI, 3-34 based on a small number of studies. The meta-analysis also suggested a statistically significant excess risk for ventricular septal defects (58%; 95% CI, 21-107, but based on only three studies, and there was little evidence of an exposure-response relationship. It was observed no statistically significant relationships in the other meta-analyses and little evidence for publication bias, except for urinary tract defects and cleft lip and palate. Although some individual studies have suggested an association between chlorination disinfection by-products and congenital anomalies, meta-analyses of all currently available studies demonstrate little evidence of such association.O objetivo deste estudo é revisar evidências epidemiológicas da associação entre a exposição a subprodutos da desinfecção com cloro (DBPs e anomalias congênitas. Todos os estudos epidemiológicos que avaliaram a relação entre o índice de exposição a DBPs e o risco de anomalias congênitas foram analisados. Para todas as anomalias congênitas combinadas, a meta-análise resultou em um risco de excesso estatisticamente significante para alta versus baixa exposição à cloração da água ou ao TTHM (17%; 95% CI, 3-34 baseado em um pequeno número de estudos. A meta-análise também sugere um excesso de risco estatisticamente significante para defeitos septais ventriculares (58%; 95% CI, 21-107, porém com base em apenas três estudos, nos quais se encontrou pouca evidência na relação exposi

  15. Case report 332: A complex anomaly of the craniovertebral junction representing a regressive malformation with agenesis of the neural arch of C-2, hypomorphogenesis at C5-C6 and instability of the upper cervical spine

    International Nuclear Information System (INIS)

    Bernini, F.P.; Muras, I.

    1985-01-01

    In summary, a very complex anomaly, including agenesis of the neural arch of the axis, hypomorphogenesis of the cervical spine at the C5-C6 level with a partial ''blocked'' vertebra and disability of the upper cervical spine, is reported in a 31-year-old man. The anomalies associated with these changes are described in detail in the text and illustrated radiologically. The relationship of the embryological alterations in contrast with the normal is described and emphasized, particularly in the upper cervical area. It is stressed that narrowing of the space from the back of the odontoid (or the posterior lip of the foramen magnum) is a direct result of the complex anomalies described in this case, producing compression of the medulla and/or the upper cervical spinal cord. The literature on this subject is reviewed in depth. (orig.)

  16. Choosing Between MRI and CT Imaging in the Adult with Congenital Heart Disease.

    Science.gov (United States)

    Bonnichsen, Crystal; Ammash, Naser

    2016-05-01

    Improvements in the outcomes of surgical and catheter-based interventions and medical therapy have led to a growing population of adult patients with congenital heart disease. Adult patients with previously undiagnosed congenital heart disease or those previously palliated or repaired may have challenging echocardiographic examinations. Understanding the distinct anatomic and hemodynamic features of the congenital anomaly and quantifying ventricular function and valvular dysfunction plays an important role in the management of these patients. Rapid advances in imaging technology with magnetic resonance imaging (MRI) and computed tomography angiography (CTA) allow for improved visualization of complex cardiac anatomy in the evaluation of this unique patient population. Although echocardiography remains the most widely used imaging tool to evaluate congenital heart disease, alternative and, at times, complimentary imaging modalities should be considered. When caring for adults with congenital heart disease, it is important to choose the proper imaging study that can answer the clinical question with the highest quality images, lowest risk to the patient, and in a cost-efficient manner.

  17. Malformations associated with congenital diaphragmatic hernia: Impact on survival.

    Science.gov (United States)

    Bojanić, Katarina; Pritišanac, Ena; Luetić, Tomislav; Vuković, Jurica; Sprung, Juraj; Weingarten, Toby N; Schroeder, Darrell R; Grizelj, Ruža

    2015-11-01

    Congenital diaphragmatic hernia (CDH) is associated with high mortality. Survival is influenced by the extent of pulmonary hypoplasia and additional congenital defects. The purpose of this study was to assess the association of congenital anomalies and admission capillary carbon dioxide levels (PcCO2), as a measure of extent of pulmonary hypoplasia, on survival in neonates with CDH. This is a retrospective review of neonates with CDH admitted to a tertiary neonatal intensive care unit between 1990 and 2014. Logistic regression was used to assess whether hospital survival was associated with admission PcCO2 or associated anomalies (isolated CDH, CDH with cardiovascular anomalies, and CDH with noncardiac anomalies). The probabilities of survival (POS) score, based on birth weight and 5-min Apgar as defined by the Congenital Diaphragmatic Hernia Study Group were included as a covariate. Of 97 patients, 55 had additional malformations (cardiovascular n=12, noncardiac anomalies n=43). POS was lower in CDH with other anomalies compared to isolated CDH. Survival rate was 61.9%, 53.5% and 41.7% in isolated CDH, CDH with noncardiac anomalies and CDH with cardiovascular anomalies, respectively. After adjusting for POS score the likelihood of survival in CDH groups with additional anomalies was similar to isolated CDH (OR 0.95, 95% CI 0.22-4.15, and 1.10, 0.39-3.08, for CDH with and without cardiovascular anomalies, respectively). After adjusting for POS score, lower PcCO2 levels (OR=1.25 per 5mmHg decrease, P=0.003) were associated with better survival. Neonates with CDH have a high prevalence of congenital malformations. However, after adjusting for POS score the presence of additional anomalies was not associated with survival. The POS score and admission PcCO2 were important prognosticating factors for survival. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Ebstein's anomaly in children: a single-center study in Angola.

    Science.gov (United States)

    Manuel, Valdano; Morais, Humberto; Magalhães, Manuel Pedro; Nunes, Maria Ana Sampaio; Leon, Gilberto; Ferreira, Manuel; Filipe Júnior, António Pedro

    2015-10-01

    Ebstein's anomaly is a rare complex congenital heart defect of the tricuspid valve. We aimed to describe the frequency, clinical profile, and early and short-term post-operative results in patients under the age of 18 years operated for this anomaly in a tertiary center in Angola. A retrospective cross-sectional study was conducted over a period of 37 months. We analyzed all patients diagnosed with congenital heart defects. Of the 1362 patients studied, eight (0.6%) had Ebstein's anomaly; six patients (75%) were female. Mean age was 69±59 months. Five patients were in NYHA functional class III or IV. Mean cardiothoracic index was 0.72. Seven patients (87.5%) had severe tricuspid regurgitation and five (62.5%) had another associated congenital heart defect. All patients were operated: two had complications and one (12.5%) died in the early post-operative period. The mean follow-up time was 1.22±0.6 years, and mortality during follow-up was 12.5% (n=1). At the end of the study, of the five patients in whom cone reconstruction was performed, four (80%) were in functional class I. Mean cardiothoracic index decreased to 0.64. Three patients had mild and two had moderate tricuspid regurgitation. The patient who underwent cone reconstruction and a Glenn procedure was in functional class I. The frequency of Ebstein's anomaly was similar to that in other centers. Cone reconstruction was viable in the majority of patients, with good early and short-term results. Copyright © 2015 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  19. Congenital Morgagni's hernia in infants and children: a national review

    African Journals Online (AJOL)

    Background: Congenital Morgagni's hernia (CMH) is rare and has unique features in terms of clinical presentation, high incidence of bilaterality, and associated anomalies. This is a review of all CMH cases reported from Saudi Arabia, highlighting clinical features, associated anomalies, aspects of diagnosis, and ...

  20. Coronary artery anomalies in Turner Syndrome.

    Science.gov (United States)

    Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H

    Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.