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Sample records for complete congenital stationary

  1. Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness

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    Tan X

    2013-08-01

    Full Text Available Xue Tan, Aya Aoki, Yasuo YanagiDepartment of Ophthalmology, University of Tokyo School of Medicine, Hongo, Bunkyo-ku, Tokyo, JapanAbstract: Patients with the complete form of congenital stationary night blindness (CSNB often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection. There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.Keywords: congenital stationary night blindness, CSNB, electroretinogram, ERG, color vision defect

  2. Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness

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    Kentaro Kurata

    2017-04-01

    Full Text Available Background: This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1 who has been followed up for 38 years. Case: The patient first visited our hospital as a 7-year-old boy with a complaint of low visual acuity. Best corrected visual acuity (BCVA was 0.5 in the right eye and 0.6 in the left eye. The refractive error was approximately –5.0 D in both eyes. The fundus showed only myopic changes. A bright-flash electroretinogram (ERG revealed a negative configuration. We diagnosed CSNB and corrected the refractive error with glasses. We continued to monitor the ERG and various waveform components as well as visual acuity and the appearance of the fundus. All NYX exons were screened for a causative mutation by polymerase chain reaction amplification, and direct sequencing was performed. Results: By 10 years of age, BCVA had increased to 0.8 on the right and 0.9 on the left, with little change thereafter. The fundus continued to show only myopic changes. No changes were seen in the amplitude or implicit time of the a-wave or b-wave or in the b/a-wave ratio. A novel hemizygous insertion mutation, c.1205_1206insT, p.(Glu404Argfs*89, was detected in exon 2 of the NYX gene. Conclusion: To our knowledge, this is the longest follow-up of a patient with CSNB1. No changes in the clinical course have been seen during follow-up. We believe that it is important to continue observations and accumulate clinical data for prognostic purposes on patients with CSNB1.

  3. Genetics Home Reference: autosomal dominant congenital stationary night blindness

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    ... the rods cannot effectively transmit signals to the brain, leading to a lack of visual perception in low light. Learn more about the genes associated with autosomal dominant congenital stationary night blindness GNAT1 PDE6B RHO Related ...

  4. Children with complete or incomplete congenital stationary night blindness: ophthalmological findings, standard ERGs and ON-OFF ERGs for differentiation between types

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    Maja Šuštar

    2012-06-01

    Conclusion: Distinct electrophysiological characteristics can be used to differentiate between complete and incomplete CSNB. Moreover, ONOFF ERGs are important for precise localization of the retinal bipolar cell dysfunction, and these can also be reliably recorded in children.

  5. Genetics Home Reference: X-linked congenital stationary night blindness

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    ... Citation on PubMed Jacobi FK, Andréasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM. ... A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital ...

  6. Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness

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    Cammack J

    2016-08-01

    Full Text Available Jocelyn Cammack,1 John Whight,2 Vinette Cross,3 Andrew T Rider,1 Andrew R Webster,1,2 Andrew Stockman1 1Department of Visual Neuroscience, UCL Institute of Ophthalmology, 2Moorfields Eye Hospital, London, 3Centre for Health and Social Care Improvement, University of Wolverhampton, Wolverhampton, UK Abstract: An appreciation of the relation between laboratory measures of visual deficit and everyday perceptual experience is fundamental to understanding the impact of a visual condition on patients and so to a fuller characterization of the disorder. This study aims to understand better the interpretative processes by which modified sensory information is perceived by a patient with congenital stationary night blindness and the adaptive strategies that are devised to deal with their measurable visual loss. Psychophysical measurements of temporal resolution, spectral sensitivity, and color discrimination were conducted on a 78-year-old male patient with the condition, who was also interviewed at length about the ways in which his diagnosis affected his daily life. Narrative analysis was employed to identify the relation between his subjective perceptual experiences and functional deficits in identifiable components of the visual system. Psychophysical measurements indicated a complete lack of rod perception and substantially reduced cone sensitivity. Two particular effects of this visual loss emerged during interviews: 1 the development of navigational techniques that relied on light reflections and point sources of light and 2 a reluctance to disclose the extent of visual loss and resulting lifelong psychosocial consequences. This study demonstrates the valuable complementary role that rich descriptive patient testimony can play, in conjunction with laboratory and clinical measurements, in more fully characterizing a disorder and in reaching a more complete understanding of the experience of vision loss. It also evidences the particular

  7. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

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    Hove, Marianne N; Kilic-Biyik, Kevser Z; Trotter, Alana

    2016-01-01

    Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from...

  8. Congenital complete atrioventricular block in the early pediatric population

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    Riccardo Cappato

    2010-05-01

    Full Text Available Congenital complete atrioventricular block (CCAVB is a rare potentially lethal disease with an estimated incidence of 1 every 15.000 to 20.000 live born infants. In structurally normal hearts two kinds of congenital heart block can be identified: one usually diagnosed in utero associated with the circulating maternal anti-SS-A/Ro and anti-SS-B/La antibodies, the other kind is detected later in the neonatal period or during the infancy or childhood and present no clear relation with maternal antibodies. Nowadays, the diagnosis can be made in utero as early as between week 16 and 28 of gestation by foetal echocardiography. The mortality in isolated CCAVB is estimated between 8 and 16% and between 4 and 8% in children and adults. The mortality and morbidity of patients diagnosed outside the neonatal period is significantly lower than those with a in utero diagnosis. Risk factors for worse outcome in CCAVB are the foetal diagnosis, the presence of hydrops fetalis, delivery at

  9. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

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    Boycott, K. M.; Maybaum, T. A.; Naylor, M. J.; Weleber, R. G.; Robitaille, J.; Miyake, Y.; Bergen, A. A.; Pierpont, M. E.; Pearce, W. G.; Bech-Hansen, N. T.

    2001-01-01

    Incomplete X-linked congenital stationary night blindness (CSNB) is a recessive, non-progressive eye disorder characterized by abnormal electroretinogram and psychophysical testing and can include impaired night vision, decreased visual acuity, myopia, nystagmus, and strabismus. Including the 20

  10. Assessment of night vision problems in patients with congenital stationary night blindness.

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    Mieke M C Bijveld

    Full Text Available Congenital Stationary Night Blindness (CSNB is a retinal disorder caused by a signal transmission defect between photoreceptors and bipolar cells. CSNB can be subdivided in CSNB2 (rod signal transmission reduced and CSNB1 (rod signal transmission absent. The present study is the first in which night vision problems are assessed in CSNB patients in a systematic way, with the purpose of improving rehabilitation for these patients. We assessed the night vision problems of 13 CSNB2 patients and 9 CSNB1 patients by means of a questionnaire on low luminance situations. We furthermore investigated their dark adapted visual functions by the Goldmann Weekers dark adaptation curve, a dark adapted static visual field, and a two-dimensional version of the "Light Lab". In the latter test, a digital image of a living room with objects was projected on a screen. While increasing the luminance of the image, we asked the patients to report on detection and recognition of objects. The questionnaire showed that the CSNB2 patients hardly experienced any night vision problems, while all CSNB1 patients experienced some problems although they generally did not describe them as severe. The three scotopic tests showed minimally to moderately decreased dark adapted visual functions in the CSNB2 patients, with differences between patients. In contrast, the dark adapted visual functions of the CSNB1 patients were more severely affected, but showed almost no differences between patients. The results from the "2D Light Lab" showed that all CSNB1 patients were blind at low intensities (equal to starlight, but quickly regained vision at higher intensities (full moonlight. Just above their dark adapted thresholds both CSNB1 and CSNB2 patients had normal visual fields. From the results we conclude that night vision problems in CSNB, in contrast to what the name suggests, are not conspicuous and generally not disabling.

  11. Craniofacial characteristics in unilateral complete cleft lip and palate patients with congenitally missing teeth.

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    Wu, Ting-Ting; Ko, Ellen Wen-Ching; Chen, Philip Kuo-Ting; Huang, Chiung-Shing

    2013-09-01

    Congenitally missing permanent teeth are common in patients with clefts. This retrospective study was conducted to evaluate the craniofacial characteristics in patients with unilateral complete cleft lip and palate with congenitally missing permanent teeth. A series of 73 consecutive patients with nonsyndromic unilateral complete cleft lip and palate were enrolled. Evaluation of congenitally missing permanent teeth was based on the panoramic films taken from 7 to 11 years of age. The cephalometric films taken around 9 years of age were used to compare the craniofacial morphology in patients with no congenitally missing permanent teeth (n = 20) and 1 (n = 25), 2 (n = 18), and 3 (n = 10) congenitally missing permanent teeth. The Spearman correlation coefficient was used to assess the association of increased numbers of congenitally missing permanent teeth with each cephalometric parameter. Anterior facial height, distance from the maxillary incisor and first molar to the palatal plane, and overjet decreased as the number of congenitally missing permanent teeth increased in patients with unilateral cleft lip and palate. Unilateral cleft lip and palate patients with congenitally missing permanent teeth have a unique craniofacial morphology with a reduced vertical dimension. Copyright © 2013 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  12. Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region

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    Bergen, A. A.; ten Brink, J. B.; Riemslag, F.; Schuurman, E. J.; Tijmes, N.

    1995-01-01

    X-linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterized by decreased visual acuity and loss of night vision. CSNBX is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease. In this study, we localize a

  13. Congenital Complete Atrioventricular Block : Clinical and Experimental Studies

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    Blank, A.C.

    2014-01-01

    Complete atrioventricular block (CAVB) is a cardiac conduction defect wherein the trans¬mission of the normal electrical impulse from the atria to the ventricle is interrupted due to structural or functional impairment of the atrioventricular (AV) conduction system. If CAVB is diagnosed in utero or

  14. Longitudinal echocardiographic follow-up in children with congenital complete atrioventricular block

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    Beaufort-Krol, Gertie C. M.; Leeuwen, Miek J. M. Schasfoort-Van; Stienstra, Ymkje; Bink-Boelkens, Margreet Th. E.

    2007-01-01

    Background: Due to a low heart rate (HR) in children with congenital complete atrioventricular block (CCAVB), a larger stroke volume of the left ventricle (LV) may be expected. If so, end-diastolic (LVEDD) and end-systolic (LVESD) diameters may be enlarged and even dilated cardiomyopathy (DCM) may

  15. [Fibular transfer in a nine-week-old infant for complete congenital absence of the tibia].

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    Karakurt, Lokman; Yilmaz, Erhan; Avci, Mustafa; Serin, Erhan

    2002-01-01

    The treatment of complete congenital absence of the tibia is controversial. The goal of the treatment is to construct a satisfactorily functioning knee joint, for which fibular transfer was described as an appropriate method. We performed reconstructive surgery using a modified Browns procedure in a nine-week-old boy with Jones type 1 congenital longitudinal deficiency of the tibia. In his final control at three years of age a good outcome was obtained according to the criteria by Epps et al. To our knowledge, this is the youngest patient to receive fibular transfer in the literature, to which we ascribed the satisfactory outcome.

  16. Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.

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    Rebecca R Bellone

    Full Text Available Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP where homozygotes (LP/LP are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1 as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ(2=1022.00, p<<0.0005, and CSNB, testing 43 horses (χ(2=43, p<<0.0005. The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder.

  17. Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

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    Bellone, Rebecca R.; Holl, Heather; Setaluri, Vijayasaradhi; Devi, Sulochana; Maddodi, Nityanand; Archer, Sheila; Sandmeyer, Lynne; Ludwig, Arne; Foerster, Daniel; Pruvost, Melanie; Reissmann, Monika; Bortfeldt, Ralf; Adelson, David L.; Lim, Sim Lin; Nelson, Janelle; Haase, Bianca; Engensteiner, Martina; Leeb, Tosso; Forsyth, George; Mienaltowski, Michael J.; Mahadevan, Padmanabhan; Hofreiter, Michael; Paijmans, Johanna L. A.; Gonzalez-Fortes, Gloria; Grahn, Bruce; Brooks, Samantha A.

    2013-01-01

    Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ2=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ2=43, p<<0.0005). The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder. PMID:24167615

  18. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity

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    Bech-Hansen, N.T. (Alberta Children' s Hospital, Calgary (Canada) Univ. of Calgary, Alberta (United States)); Pearce, W.G. (Univ. of Alberta, Edmonton (Canada))

    1993-01-01

    X-linked congenital stationary night blindness (CSNB1) is a hereditary retinal disorder in which clinical features in affected males usually include myopia, nystagmus, and impaired visual acuity. Electroretinography demonstrates a marked reduction in b-wave amplitude. In the study of a large Mennonite family with CSNB1, three of five sisters in one sibship were found to have manifestations of CSNB1. All the sons of these three sisters were affected. Each of the two nonmanifesting sisters had at least one unaffected son. Analysis of Xp markers in the region Xp21.1-Xp11.22 showed that the two sisters who were unaffected had inherited the same maternal X chromosome (i.e., M2). Two of the daughters who manifested with CSNB had inherited the other maternal X chromosome (M1). The third manifesting sister inherited a recombinant X chromosome with a crossover between TIMP and DXS255, which suggests that the CSNB1 locus lies proximal to TIMP. One of the affected daughters' sons had inherited the maternal M1 X chromosome, a finding consistent with that chromosome carrying a mutant CSNB gene; the other affected sons inherited the grandfather's X chromosome (i.e., P). Molecular analysis of DNA from three sisters with manifestations of CSNB is consistent with their being homozygous at the CSNB1 locus and with their mother being a carrier of CSNB1. 23 refs., 4 figs., 3 tabs.

  19. Do All Children with Congenital Complete Atrioventricular Block Require Permanent Pacing ?

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    Christian Balmer

    2003-07-01

    Full Text Available With an incidence of 1 in 20’000 live born infants1, congenital complete atrioventricular block (CCAVB is a rare disease. The aetiology is not completely understood. However, CCAVB may be isolated or combined with congenital heart diseases in up to 53% of affected individuals2. Isolated CCAVB is in up to 98% of the children associated with positive autoimmune antibodies in the maternal serum (anti-Ro/SS-A and anti-LA/SS-B3,4. Interestingly, these antibodies are not specifically directed against the conduction system but also against normal myocardial cells and may cause myocarditis5,6. Affection of the conduction system can occur at different levels7. Histologically, the atrioventricular node tissue may be replaced by fibrous fatty tissue with variable involvement of the distal conduction system8.

  20. Remission of congenital complete heart block without anti-Ro/La antibodies: A case report

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    Souvik Mitra

    2013-01-01

    Full Text Available Anti-Ro/La negative congenital heart block (CHB is uncommon. We report one such case of CHB, with no associated structural heart disease or maternal autoantibodies. The heart block reverted to sinus rhythm spontaneously at two weeks of age, and the patient remains in sinus rhythm at a one year followup. Whether patients with antibody negative complete heart block have a different clinical course is conjectural.

  1. Exercise Performance in Children and Young Adults After Complete and Incomplete Repair of Congenital Heart Disease.

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    Rosenblum, Omer; Katz, Uriel; Reuveny, Ronen; Williams, Craig A; Dubnov-Raz, Gal

    2015-12-01

    Few previous studies have addressed exercise capacity in patients with corrected congenital heart disease (CHD) and significant anatomical residua. The aim of this study was to determine the aerobic fitness and peak cardiac function of patients with corrected CHD with complete or incomplete repairs, as determined by resting echocardiography. Children, adolescents and young adults (heart defect had decreased aerobic fitness, with evidence of impaired peak cardiac function and lower pulmonary perfusion. Patients that had undergone a complete repair had decreased aerobic fitness attributed only to deconditioning. These newly identified differences explain why in previous studies, the lowest fitness was seen in patients with the most hemodynamically significant heart malformations.

  2. Determinants of early dilated cardiomyopathy in neonates with congenital complete atrioventricular block.

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    Silvetti, Massimo Stefano; Drago, Fabrizio; Ravà, Lucilla

    2010-09-01

    Dilated cardiomyopathy (DCM) can occur in infants with congenital complete atrioventricular block (CCAVB) treated by permanent pacemaker (PM), even without other congenital heart defects. The objective is to find the risk factors of this complication. Retrospective analysis of a single-centre experience. Since 1992, 25 patients, aged 25 (1-355) days [median (range)], with normal ejection fraction (EF), underwent PM implantation (13 DDD, 12 VVIR) with an RV-pacing site. Follow-up was 4 (0.3-16) years. DCM occurred after 4 (3-23) months in eight patients (32%). Univariate analysis identified the following risk factors: younger age at implantation [5 (1-85) days vs. 90 (1-355) P = 0.007], a broad QRS (50 vs. 18% P = 0.03), prolonged QTc at implantation (63 vs. 0%, P = 0.001), and greater duration of heart rate >160 bpm during the first month after implantation (18 vs. 2%, P = 0.03). By multivariate analysis prolonged QTc was the only significant risk factor for DCM (hazard ratio: 23, P mode to allow predominant narrow QRS junctional rhythm (one patient each). Neonates with CCAVB without other congenital heart defects and prolonged QTc are at high risk for DCM possibly due to electromechanical dyssynchrony induced by high-rate RV pacing. In patients in whom RV pacing was discontinued, EF became normal.

  3. Complete congenital sternal cleft in an adult: repair by autogenous tissues.

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    Suri, R K; Sharma, R K; Jha, N K; Sharma, B K

    1996-08-01

    We are reporting here a rare case of congenital complete sternal cleft in an adult of 25 years of age, with absent anterior pericardium and "diastasis recti." Successful surgical repair was achieved along with the preservation of the already existing anatomic and mechanical sanctity of thoracic cage, sternal reconstruction, and protection of the underlying heart and great vessels with a good cosmetic result using autogenous tissue i.e., iliac bone and "V-Y" myoplasty of pectoralis major muscles with their functional preservation and correction of associated anomalies.

  4. Congenital completely buried penis in boys: anatomical basis and surgical technique.

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    Liu, Xing; He, Da-wei; Hua, Yi; Zhang, De-ying; Wei, Guang-hui

    2013-07-01

    WHAT'S KNOWN ON THE SUBJECT? AND WHAT DOES THE STUDY ADD?: Surgical correction of the congenital completely buried penis (CCBP) is a difficult challenge and there is no unanimous consensus about the surgical 'gold standard' and patient eligibility for surgery. In the present study, dysgenetic fundiform ligaments were found to be attached to the distal or middle shaft of the penis. This abnormality can be successfully corrected by releasing the fundiform ligament and mobilising the scrotal skin to cover the length of the penile shaft. The study shows that the paucity and traction of the penile skin and an abnormal fundiform ligament are important anatomical defects in CCBP. Dorsal curve and severe shortage of penile skin in erectile conditions are the main indications for surgical correction. To present our experience of anatomical findings for congenital completely buried penis (CCBP), which has no unanimous consensus regarding the 'gold standard' for surgical correction and patient eligibility, by providing our surgical technique and illustrations. Between February 2006 and February 2011, 22 children with a median (range) age of 4.2 (2.5-5.8) years, with CCBP underwent surgical correction by one surgeon. Toilet training and photographs of morning erections by parents were advised before surgery. The abnormal anatomical structure of buried penis during the operation was observed. The technique consisted of the release of the fundiform ligament, fixation of the subcutaneous penile skin at the base of the degloved penis, penoscrotal Z-plasty and mobilisation of the penile and scrotal skin to cover the penile shaft. In reflex erectile conditions, CCBP presents varying degrees of dorsal curve and shortage of penile skin. Dysgenetic fundiform ligaments were found to be attached to the distal or middle shaft of the penis in all patients. All wounds healed well and the cosmetic outcome was good at 6-month follow-up after the repair. The appearance of the dorsal curve in

  5. Normalisation of left ventricular systolic function after change from VVI pacing to biventricular pacing in a child with congenital complete atrioventricular block, long-QT syndrome, and congenital muscular dystrophy

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    Ellesøe, Sabrina G; Reimers, Jesper I; Andersen, Henrik

    2013-01-01

    Development of dilated cardiomyopathy in patients with congenital complete atrioventricular block with or without pacemaker is well described. We report a case of dilated cardiomyopathy in a child with congenital complete atrioventricular block, long-QT syndrome, and VVI pacemaker. Temporary pacing...

  6. Exercise capacity in children with isolated congenital complete atrioventricular block: does pacing make a difference?

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    Blank, A Christian; Hakim, Sara; Strengers, Jan L; Tanke, Ronald B; van Veen, Toon A; Vos, Marc A; Takken, Tim

    2012-04-01

    The management of patients with isolated congenital complete atrioventricular block (CCAVB) has changed during the last decades. The current policy is to pace the majority of patients based on a variety of criteria, among which is limited exercise capacity. Data regarding exercise capacity in this population stems from previous publications reporting small case series of unpaced patients. Therefore, we have investigated the exercise capacity of a group of contemporary children with CCAVB. Sixteen children (mean age 11.5 ± 4; seven boys, nine girls) with CCAVB were tested. In 13 patients, a median number of three pacemakers were implanted, whereas in three patients no pacemaker was given. All patients had an echocardiogram and completed a cardiopulmonary cycle exercise test. Exercise parameters were determined and compared with reference values obtained from healthy Dutch peers. The peak oxygen uptake/body mass was reduced to 34.4 ± 9.5 ml kg(-1) min(-1) (79 ± 24% of predicted) and the ventilatory threshold was reduced to 52 ± 17% of peak oxygen uptake (78 ± 21% of predicted), whereas the peak work load/body mass was 2.8 ± 0.6 W/kg (91 ± 24% of predicted), which was similar to controls. Importantly, 25% of the paced patients showed upper rate restriction by the pacemaker. In conclusion, children with CCAVB show a reduced peak oxygen uptake and ventilatory threshold, whereas they show normal peak work rates. This indicates that they generate more energy during exercise from anaerobic energy sources. Paced children with CCAVB do not perform better than unpaced children.

  7. Isolated congenital left ventricular diverticulum in an elderly patient that was identified because of an incidental finding during a complete medical checkup.

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    Sakabe, Koichi; Fukuda, Nobuo; Fukuda, Yamato; Wakayama, Katsunori; Nada, Teru; Morishita, Satofumi; Shinohara, Hisanori; Tamura, Yoshiyuki

    2008-04-10

    Congenital left ventricular diverticulum is a rare cardiac malformation in an elderly patient. It frequently is associated with other cardiac or non-cardiac congenital malformations. We present an asymptomatic elderly patient, evaluated because of an incidental finding of a left ventricular anatomic change on chest computed tomography during a complete medical checkup. The diagnosis of isolated congenital left ventricular diverticulum was confirmed by echocardiography and cardiac catheterization. With the general use of a complete medical checkup, the incidental findings of patients with isolated congenital left ventricular diverticulum might increase, which might allow for a valid estimation of the morbidity and mortality of these patients.

  8. Genotypic and phenotypic predictors of complete heart block and recovery of conduction after surgical repair of congenital heart disease.

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    Murray, Laura E; Smith, Andrew H; Flack, English C; Crum, Kim; Owen, Jill; Kannankeril, Prince J

    2017-03-01

    Complete heart block (CHB) is a major complication that occurs after congenital heart surgery. We hypothesized that genetic and clinical factors are associated with the development of postoperative CHB and recovery of atrioventricular (AV) conduction. The purpose of this study was to identify predictors of CHB and recovery after congenital heart surgery. Patients undergoing congenital heart surgery at our institution from September 2007 through June 2015 were prospectively enrolled in a parent study of postoperative arrhythmias. Patients with onset of CHB within 48 hours postoperatively were included in the study. Daily rhythm assessment was performed until demonstration of 1:1 conduction or pacemaker implantation. Of 1199 subjects enrolled, 56 (4.7%) developed postoperative CHB. In multivariate analysis, preoperative digoxin exposure (odds ratio [OR] 2.4, 95% confidence interval [CI] 1.3-4.4), aortic cross-clamp time (OR 1.08, 95% CI 1.04-1.11), ventricular septal defect closure (OR 2.2, 95% CI 1.2-4.1), and a common polymorphism in the gene encoding connexin-40 (GJA5 rs10465885 TT genotype; OR 2.1, 95% CI 1.2-3.8) were independently associated with postoperative CHB. Junctional acceleration (JA) (OR 4.0, 95% CI 1.1-15.1) and intermittent conduction noted during complete AV block (OR 9.1, 95% CI 1.0-80) were independently associated with 1:1 AV conduction recovery. Use of a multivariate model including both JA and intermittent conduction demonstrated good discrimination with a positive predictive value of 86% (95% CI 67%-96%) in predicting 1:1 conduction recovery. Preoperative factors, including a missense polymorphism in GJA5, are independently associated with increased risk for CHB. JA and intermittent conduction may prove useful in predicting recovery of AV conduction among patients with CHB after congenital heart surgery. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  9. Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns (LP) in the Appaloosa Horse (Equus caballus)

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    Bellone, Rebecca R.; Brooks, Samantha A.; Sandmeyer, Lynne; Murphy, Barbara A.; Forsyth, George; Archer, Sheila; Bailey, Ernest; Grahn, Bruce

    2008-01-01

    The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT–PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) expression in the retina of homozygous appaloosa horses was 0.05% the level found in non-appaloosa horses (R = 0.0005). This constitutes a >1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = −1870.637, P = 0.001) of CSNB-affected (LP/LP) horses. TRPM1 was also downregulated in LP/LP pigmented skin (R = 0.005, FC = −193.963, P = 0.001) and in LP/LP unpigmented skin (R = 0.003, FC = −288.686, P = 0.001) and was downregulated to a lesser extent in LP/lp unpigmented skin (R = 0.027, FC = −36.583, P = 0.001). TRP proteins are thought to have a role in controlling intracellular Ca2+ concentration. Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses. PMID:18660533

  10. Association of temporary complete AV block and junctional ectopic tachycardia after surgery for congenital heart disease.

    Science.gov (United States)

    Paech, Christian; Dähnert, Ingo; Kostelka, Martin; Mende, Meinhardt; Gebauer, Roman

    2015-01-01

    Junctional ectopic tachycardia (JET) is a postoperative complication with a mortality rate of up to 14% after surgery for congenital heart disease. This study evaluated the risk factors of JET and explored the association of postoperative temporary third degree atrioventricular (AV) block and the occurrence of JET. Data were collected retrospectively from 1158 patients who underwent surgery for congenital heart disease. The overall incidence of JET was 2.8%. Temporary third degree AV block occurred in 1.6% of cases. Permanent third degree AV block requiring pacemaker implantation occurred in 1% of cases. In all, 56% of patients with JET had temporary AV block (P < 0.001), whereas no case of postoperative JET was reported in patients with permanent AV block (P = 0.56). temporary third degree AV block did not suffer from JET. A correlation between temporary third degree AV block and postoperative JET could be observed. The risk factors identified for JET include younger age groups at the time of surgery, longer aortic cross clamping time and surgical procedures in proximity to the AV node.

  11. Association of temporary complete AV block and junctional ectopic tachycardia after surgery for congenital heart disease

    Directory of Open Access Journals (Sweden)

    Christian Paech

    2015-01-01

    Full Text Available Aim: Junctional ectopic tachycardia (JET is a postoperative complication with a mortality rate of up to 14% after surgery for congenital heart disease. This study evaluated the risk factors of JET and explored the association of postoperative temporary third degree atrioventricular (AV block and the occurrence of JET. Materials and Methods: Data were collected retrospectively from 1158 patients who underwent surgery for congenital heart disease. Results: The overall incidence of JET was 2.8%. Temporary third degree AV block occurred in 1.6% of cases. Permanent third degree AV block requiring pacemaker implantation occurred in 1% of cases. In all, 56% of patients with JET had temporary AV block (P < 0.001, whereas no case of postoperative JET was reported in patients with permanent AV block (P = 0.56. temporary third degree AV block did not suffer from JET. Conclusions: A correlation between temporary third degree AV block and postoperative JET could be observed. The risk factors identified for JET include younger age groups at the time of surgery, longer aortic cross clamping time and surgical procedures in proximity to the AV node.

  12. Techniques for transcatheter recanalization of completely occluded vessels and pathways in patients with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Latson Larry

    2010-01-01

    Full Text Available Occlusions of major vessels in patients with congenital heart disease may occur due to a variety of factors. These occlusions are often felt to be best addressed surgically; however, we and others have been successful in recanalizing most of these vessels in the catheterization laboratory. Most of these patients will require multiple procedures in the catheterization laboratory to ensure vessel patency and to facilitate vessel growth. Physicians performing the procedure should have a thorough understanding of the anatomic considerations for the intended procedure and have access to a variety of devices and equipment to optimize the result of the procedure. In this article, we review some of the technical aspects that are vital for the success of the procedure.

  13. Congenital complete atrioventricular block associated with QT prolongation: Description of a patient with an unusual outcome.

    Science.gov (United States)

    Mendoza, Alberto; Belda, Silvia; Salguero, Rafael; Granados, Miguel Angel

    2010-08-01

    The association of a complete atrioventricular block with long QT syndrome is relatively common and carries a high risk of torsades de pointes (TdP) and sudden death. It is probably due to a downregulation of potassium channel currents (I (Ks) and I (Kr)) that impairs ventricular repolarization, prolongs the QT interval and increases susceptibility to TdP, so it must be considered a channelopathy. This report describes a 6 year-old boy, with a complete atrioventricular block diagnosed at 5 months of age, who at the age of 1 year started having episodes of TdP associated with a prolonged QT interval. He was treated successfully with propranolol and with a pacemaker implant. At age 3 the complete atrioventricular block reversed spontaneously to a first degree atrioventricular block.

  14. Case studies of the perceptions of women with high risk congenital heart disease successfully completing a pregnancy.

    Science.gov (United States)

    Ngu, Kylie; Hay, Margaret; Menahem, Samuel

    2014-09-01

    Women even with moderate to severe congenital heart disease (CHD) seek motherhood despite posing significant health risks to themselves and their infant. This study explored their motivations and perceptions and compared them to those of women with low risk CHD who conceived. Twenty women over 18 years with CHD who had a successful pregnancy were recruited, half of whom were identified as having a high risk cardiac abnormality. They completed a questionnaire and a semi-structured interview following which a thematic analysis was employed. Their medical records and clinical status were also reviewed and their current cardiac status graded by their attending cardiologist. Women with high risk (moderate to severe) CHD (n=10) appeared to have similar motivations for conceiving as women with low-risk (mild) CHD (n=10). Their decision to conceive seemed based on their own and at times unrealistic perceptions of the consequences of their CHD. Women with mild or more severe CHD had similar motivations to conceive tending to down play the seriousness of their CHD. Their drive for motherhood appeared to be stronger than the drive for self care. It behoves clinicians, both obstetricians and cardiologists caring for women with high risk CHD to be knowledgeable of the effects of the CHD on the pregnancy and the impact of the pregnancy on the cardiac status. Copyright © 2014 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  15. [Completeness assessment of the Breton registry of congenital abnormalities: A checking tool based on hospital discharge data].

    Science.gov (United States)

    Riou, C; Rouget, F; Sinteff, J-P; Pladys, P; Cuggia, M

    2015-08-01

    Exhaustiveness is required for registries. In the Breton registry of congenital abnormalities, cases are recorded at the source. We use hospital discharge data in order to verify the completeness of the registry. In this paper, we present a computerized tool for completeness assessment applied to the Breton registry. All the medical information departments were solicited once a year, asking for infant medical stays for newborns alive at one year old and for mother's stays if not. Files were transmitted by secure messaging and data were processed on a secure server. An identity-matching algorithm was applied and a similarity score calculated. When the record was not linked automatically or manually, the medical record had to be consulted. The exhaustiveness rate was assessed using the capture recapture method and the proportion of cases matched manually was used to assess the identity matching algorithm. The computerized tool bas been used in common practice since June 2012 by the registry investigators. The results presented concerned the years 2011 and 2012. There were 470 potential cases identified from the hospital discharge data in 2011 and 538 in 2012, 35 new cases were detected in 2011 (32 children born alive and 3 stillborn), and 33 in 2012 (children born alive). There were respectively 85 and 137 false-positive cases. The theorical exhaustiveness rate reached 91% for both years. The rate of exact matching amounted to 68%; 6% of the potential cases were linked manually. Hospital discharge databases contribute to the quality of the registry even though reports are made at the source. The implemented tool facilitates the investigator's work. In the future, use of the national identifying number, when allowed, should facilitate linkage between registry data and hospital discharge data. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  16. Isolated congenital complete heart block in a five-year-old seronegative girl born to a woman seropositive for human immunodeficiency virus: a case report.

    Science.gov (United States)

    Pallangyo, Pedro; Mawenya, Isaac; Nicholaus, Paulina; Mayala, Henry; Kalombola, Amida; Sharau, Godwin; Majani, Naiz; Janabi, Mohamed

    2016-10-19

    Congenital complete heart block is a life-threatening condition which is highly associated with autoimmune and connective tissue disorders. Presence of maternal autoantibodies for associated conditions increases the risk of delivering a child with congenital complete heart block, however, less than a half of all women with such antibodies are symptomatic even after delivery. Mortality rate is highest during the neonatal period (45 %) and about two-thirds of all cases will require permanent pacing at some point in their lives. We report a case of isolated complete heart block in a 5-year-old HIV-free girl of African descent born to an HIV-infected woman with no prior history of autoimmune disorders. She was referred to us with chief complaints of recurrent syncopal attacks and effort intolerance since birth. A physical examination was unremarkable except for her being small for her age (body mass index 16.3 kg/m2) and bradycardia. Her vital signs were within acceptable range with the exception of her pulse rate, which ranged between 22 and 34 beats/minute. An echocardiogram revealed a sinus bradycardia, otherwise a structurally normal heart. An electrocardiogram showed atrioventricular dissociation in keeping with third-degree atrioventricular block. The child underwent a permanent epicardial pacemaker insertion and has been symptom-free following pacing. Despite its infrequency and life-threatening potential, patients with congenital complete heart block have an excellent survival rate with timely diagnosis and intervention. An incidental detection of bradycardia in a fetus during routine obstetrical ultrasound examination should increase the index of suspicion for congenital complete heart block and warrant a screening for associated maternal autoantibodies.

  17. Anaesthetic management of emergency pacemaker implantation in a case of neonatal lupus erythematosus with complete congenital heart block & severe respiratory distress

    Directory of Open Access Journals (Sweden)

    Usha Kiran

    2007-01-01

    Full Text Available An 8-week old 3-kilogram male baby was brought to this tertiary care hospital with respiratory distress, marked tracheal tug, poor feeding and a heart rate of 46/minute. The child had been referred from a peripheral hospital as a case of neonatal lupus with complete congenital heart block. The mother was seropositive for systemic lupus erythematosus with a history of two abortions. Evaluation on admission revealed a heart rate between 40-60/ minute, respiratory rate 40-50/ minute, inspiratory stridor, bilateral crepitations, chest retrac-tion and a marked tracheal tug that improved with prone positioning. Electrocardiography and echocardiography confirmed complete congenital heart block with cardiomegaly and mild left ventricular dysfunction. Keeping in view the impending congestive heart failure, possible early cardiomyopathy and the bad obstetric history ur-gent pacemaker implantation was planned to allow early recovery of the child. The anaesthetic risk was high due to the heart block, ventricular dysfunction, laryngomalacia, severe tracheal tug and anticipated difficult weaning from controlled ventilation. General anaesthesia was administered with endotracheal tube and con-trolled ventilation using ketamine, rocuronium and sufentanil. For patient safety invasive monitoring was pro-vided and external pacing was kept standby. Epicardial pacemaker leads were implanted onto the left ventricu-lar wall through a left anterior 6th intercostal space thoracotomy. The child was electively ventilated for two post operative days. The tracheal tug and secretions gradually subsided over 2 weeks with oxygen, antibiotics, steroids, bronchodilators and physiotherapy. At the time of discharge from hospital 2 weeks after the implant the child was feeding well, tracheal tug was minimal and the lungs were clear.

  18. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  19. An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

    Science.gov (United States)

    Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

    2018-02-12

    Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

  20. Noncommutative stationary processes

    CERN Document Server

    Gohm, Rolf

    2004-01-01

    Quantum probability and the theory of operator algebras are both concerned with the study of noncommutative dynamics. Focusing on stationary processes with discrete-time parameter, this book presents (without many prerequisites) some basic problems of interest to both fields, on topics including extensions and dilations of completely positive maps, Markov property and adaptedness, endomorphisms of operator algebras and the applications arising from the interplay of these themes. Much of the material is new, but many interesting questions are accessible even to the reader equipped only with basic knowledge of quantum probability and operator algebras.

  1. Long-term results of treatment of congenital idiopathic clubfoot in 187 feet: outcome of the functional "French" method, if necessary completed by soft-tissue release.

    Science.gov (United States)

    Rampal, Virginie; Chamond, Caroline; Barthes, Xavier; Glorion, Christophe; Seringe, Raphael; Wicart, Philippe

    2013-01-01

    Two main options for treatment of congenital idiopathic clubfoot are the "French" functional method and the Ponseti method. The goal of this article was to evaluate the results of the functional treatment method, which, if necessary, is completed by a surgical release. A series of 187 feet (129 patients) underwent functional conservative treatment. At first evaluation, the feet were classified according to the classification of Dimeglio. All patients then underwent daily physiotherapy and splintage, which was progressively stopped during childhood. Among these 187 feet, 85 feet (45.5%) required soft-tissue release to correct the remaining deformity. Surgery, when required, consisted of a complete posterolateral and medial release procedure, combined with a lengthening of the tibialis anterior tendon in most cases and a bony lateral procedure in case of forefoot adduction. At the latest follow-up (14.7 y; range, 7.4 to 23 y), results were "good" or "very good" in almost 98% of feet, according to the Ghanem and Seringe score. Severe feet at first consultation showed a worse result and required surgery more often than did the less severe ones. Among nonoperated feet, very good results were found in 99% of feet, and none had a fair or bad result. The average age at surgery was 2.5 years. Feet operated upon had lower results compared with the others. At last follow-up, among the operated feet, the results were excellent or good in 95% of the feet. The results were fair or bad in 4 cases; all 4 feet had been operated upon more than once. The results were not statistically dependent on age at the time of surgery, but feet operated upon before the age of 2 years had statistically more flattening of the talar dome and subtalar stiffness. The functional treatment of clubfoot leads to a very good result without the need for surgery in more than half of the patients. The initial severity of the feet is the main factor that influences the final result. The rate of feet not

  2. Is Congenital Syphilis Really Congenital Syphilis?

    Directory of Open Access Journals (Sweden)

    Yi Li

    2006-01-01

    Full Text Available Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US. However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital syphilis CDC collection forms (form 73.126 were reviewed for the years in question. The reported congenital syphilis cases in the year 2002–2004 in Detroit were reviewed. No cases met confirmed case criteria and few probable cases were based on neonatal evaluations. The majority of “congenital syphilis” cases were established based on incomplete maternal data such as missing followup serologic titers in the absence of complete neonatal information. In conclusion, although the reported congenital syphilis rate in Detroit is alarmingly high, the true occurrence of congenital syphilis is likely to have been overstated. A health department reporting program that includes more diligent neonatal followup would allow for a more accurate representation of this public health concern.

  3. 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 ...

  4. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  5. Enhancement of optical nonlinearities with stationary light

    DEFF Research Database (Denmark)

    Iakoupov, Ivan

    Stationary light arises in atomic ensembles with certain energy level configurations, when two counter-propagating classical drives (lasers) are applied. Probe light coupled to a different energy level transition than the classical drives can be completely stopped, while still retaining its light...... character. We will be interested in the regime of stationary light, where the probe light still propagates through the atomic ensemble, but extremely slowly. In other words, probe field has a very low group velocity, which increases its interaction time with any optical nonlinearity. The enhancement...... of the effective nonlinear strength by stationary light is then used to propose a two-qubit (controlled-phase) quantum gate for the optical photons, which can in principle work deterministically. Before discussing stationary light and its application, we also analyse the different fidelity measures that could...

  6. EAMJ Congenital.indd

    African Journals Online (AJOL)

    2010-02-02

    Feb 2, 2010 ... Congenital afibrinogenaemia (CA), is a rare inherited bleeding disorder characterised by complete deficiency of fibrinogen in the plasma. Blood clotting tests are indefinitely prolonged in patients. The mode of inheritance is autosomal recessive. Typically patients present with excessive cord bleeding after ...

  7. In-Hospital Vital Status and Heart Transplants After Intervention for Congenital Heart Disease in the Pediatric Cardiac Care Consortium: Completeness of Ascertainment Using the National Death Index and United Network for Organ Sharing Datasets.

    Science.gov (United States)

    Spector, Logan G; Menk, Jeremiah S; Vinocur, Jeffrey M; Oster, Matthew E; Harvey, Brian A; St Louis, James D; Moller, James; Kochilas, Lazaros K

    2016-08-09

    The long-term outcomes of patients undergoing interventions for congenital heart disease (CHD) remain largely unknown. We linked the Pediatric Cardiac Care Consortium (PCCC) with the National Death Index (NDI) and the United Network for Organ Sharing Dataset (UNOS) registries to study mortality and transplant occurring up to 32 years postintervention. The objective of the current analysis was to determine the sensitivity of this linkage in identifying patients who are known to have died or undergone heart transplant. We used direct identifiers from 59 324 subjects registered in the PCCC between 1982 and 2003 to test for completeness of case ascertainment of subjects with known vital and heart transplant status by linkage with the NDI and UNOS registries. Of the 4612 in-hospital deaths, 3873 were identified by the NDI as "true" matches for a sensitivity of 84.0% (95% CI, 82.9-85.0). There was no difference in sensitivity across 25 congenital cardiovascular conditions after adjustment for age, sex, race, presence of first name, death year, and residence at death. Of 455 known heart transplants in the PCCC, there were 408 matches in the UNOS registry, for a sensitivity of 89.7% (95% CI, 86.9-92.3). An additional 4851 deaths and 363 transplants that occurred outside the PCCC were identified through 2014. The linkage of the PCCC with the NDI and UNOS national registries is feasible with a satisfactory sensitivity. This linkage provides a conservative estimate of the long-term death and heart transplant events in this cohort. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  8. Bloqueo aurículo-ventricular congénito completo: Reporte de un caso y revisión de la literatura Congenital complete atrioventricular block: eport of one case and literature review

    Directory of Open Access Journals (Sweden)

    Alejandro Díaz D

    2008-02-01

    Full Text Available El bloqueo aurículo-ventricular completo congénito, es una entidad poco común, que presenta alta morbilidad y mortalidad con incidencia real que permanece desconocida y requiere alto índice de sospecha para su diagnóstico y, por ende, su temprana intervención. Se observa en hijos de madres con enfermedades autoinmunes del tejido conectivo, en especial, lupus eritematoso sistémico cuando su aparición es congénita. A nivel postnatal, es más frecuente que ocurra por cardiopatías congénitas. También puede manifestarse en corazones normales desde el punto de vista estructural. El hallazgo clínico característico es bradicardia persistente que se manifiesta desde la vida intrauterina y repercute en la estabilidad circulatoria del feto llegando a producir hidrops, complicación seria y letal. Después del nacimiento aparece igualmente con bradicardia que puede o no descompensar la parte hemodinámica del paciente. El diagnóstico se hace por sospecha clínica, con ecocardiografía fetal y postnatal, electrocardiograma y detección de anticuerpos maternos tipo antiRo y antiLa. La implantación de un marcapasos es el tratamiento definitivo que contribuye a mejorar la sobrevida y el pronóstico de estos pacientes. Se presenta el caso de una paciente prematura, de 31 semanas, debido a hidrops no inmune, en quien se diagnosticó bloqueo aurículo-ventricular completo congénito secundario a lupus materno confirmado por anticuerpos anti-nucleares francamente positivos y anticuerpos antiRo y antiLa positivos, quien recibió manejo con soporte inotrópico y posterior implantación de marcapasos. Presentó mejoría completa de la falla cardiaca y se remitió hacia otra institución para manejo convencional del prematuro.Complete congenital atrioventricular block is a rare entity that has a high morbidity and mortality. Its real incidence remains unknown and a high suspicion index is needed for its diagnosis and consequently for its early

  9. Congenital Scoliosis.

    Science.gov (United States)

    Moramarco, M; Weiss, H R

    2015-11-17

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found , this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology [5]. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  10. Stationary flow near fronts

    Directory of Open Access Journals (Sweden)

    Reinhold Steinacker

    2016-12-01

    Full Text Available In 1906, the Austrian scientist Max Margules published a paper on temperature stratification in resting and non-accelerated moving air. The paper derives conditions for stationary slopes of air mass boundaries and was an important forerunner of frontal theories. Its formulation of relations between changes in density and geostrophic wind across the front is basically a discrete version of the thermal wind balance equation. The paper was highly influential and is still being cited to the present day. This paper accompanies an English translation of Margules’ seminal paper. We conclude here our “Classic Papers” series of the Meteorologische Zeitschrift.

  11. Multiple congenital cranial hemangiomas

    Energy Technology Data Exchange (ETDEWEB)

    Koulouris, George [Alfred Hospital, Department of Radiology, Prahran, Victoria (Australia); Rao, Padma [Royal Children' s Hospital, Department of Radiology, Parkville, Victoria (Australia)

    2005-08-01

    Though cranial hemangiomas are second only to vertebral hemangiomas in frequency, such lesions are rarely congenital and multiple. It is probable that the true incidence of congenital calvarial hemangiomas is higher than that reported in the literature, as they are unlikely to undergo imaging, most being asymptomatic and without a significant soft tissue component. We present a case of multiple congenital calvarial and skull base cavernous-type hemangiomas, diagnosed in a 4-day-old female, involving the right zygoma, maxilla, frontal and petrous temporal bones and contralateral squamous temporal bone. Surgical biopsy confirmed the radiological diagnosis as well as the concomitant multiple subcutaneous capillary-type hemangiomas which were identified clinically. No specific clinical syndrome or chromosomal abnormality was identified and the underlying cerebral parenchyma was normal with no intra-axial involvement. With conservative treatment, two lesions completely resolved and a further two lesions subsequently decreased in both size and degree of enhancement. To the best of our knowledge, this is the first case of multiple congenital hemangiomas involving the calvarium and skull base. Despite this, the radiological features, combined with the clinical findings of multiple capillary hemangiomas, were characteristic enough to permit an accurate preoperative diagnosis. Osseous hemangiomas should feature prominently in any differential diagnosis of multiple hypervascular lesions, as they are common, more so when limited to an anatomical region, irrespective of site or age. (orig.)

  12. Genetics Home Reference: autosomal recessive congenital stationary night blindness

    Science.gov (United States)

    ... Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin ... Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, ... B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson ...

  13. Congenital hemangioma.

    Science.gov (United States)

    Amouri, Meriem; Mesrati, Hela; Chaaben, Hend; Masmoudi, Abderrahmen; Mseddi, Madiha; Turki, Hamida

    2017-01-01

    Congenital hemangiomas (CHs) are fully developed hemangiomas that are present at birth. There are 2 possible types: rapidly involuting CHs (RICHs) and noninvoluting CHs (NICHs). We conducted a retrospective study (2008-2012) of 6 patients (2 females, 4 males) with CHs (mean age, 16 days). We analyzed the epidemiology, clinical characteristics, and clinical outcome of CHs over this 5-year period.

  14. Congenital Defects.

    Science.gov (United States)

    Goldman, Allen S.; And Others

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

  15. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

  16. Ceramic stationary gas turbine

    Energy Technology Data Exchange (ETDEWEB)

    Roode, M. van [Solar Turbines Inc., San Diego, CA (United States)

    1995-10-01

    The performance of current industrial gas turbines is limited by the temperature and strength capabilities of the metallic structural materials in the engine hot section. Because of their superior high-temperature strength and durability, ceramics can be used as structural materials for hot section components (blades, nozzles, combustor liners) in innovative designs at increased turbine firing temperatures. The benefits include the ability to increase the turbine inlet temperature (TIT) to about 1200{degrees}C ({approx}2200{degrees}F) or more with uncooled ceramics. It has been projected that fully optimized stationary gas turbines would have a {approx}20 percent gain in thermal efficiency and {approx}40 percent gain in output power in simple cycle compared to all metal-engines with air-cooled components. Annual fuel savings in cogeneration in the U.S. would be on the order of 0.2 Quad by 2010. Emissions reductions to under 10 ppmv NO{sub x} are also forecast. This paper describes the progress on a three-phase, 6-year program sponsored by the U.S. Department of Energy, Office of Industrial Technologies, to achieve significant performance improvements and emissions reductions in stationary gas turbines by replacing metallic hot section components with ceramic parts. Progress is being reported for the period September 1, 1994, through September 30, 1995.

  17. Aerobic Training in Patients with Congenital Myopathy.

    Directory of Open Access Journals (Sweden)

    Gitte Hedermann

    Full Text Available Congenital myopathies (CM often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM.Patients exercised on a stationary bike for 30 minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max. Creatine kinase (CK was monitored as a marker of muscle damage. VO2max, functional tests, and questionnaires evaluated efficacy.Sixteen patients with CM were included in a controlled study. VO2max increased by 14% (range, 6-25%; 95% CI 7-20; p < 0.001 in the seven patients who completed training, and tended to decrease in a non-intervention group (n = 7; change -3.5%; range, -11-3%, p = 0.083. CK levels were normal and remained stable during training. Baseline Fatigue Severity Scale scores were high, 4.9 (SE 1.9, and tended to decrease (to 4.4 (SE 1.7; p = 0.08 with training. Nine patients dropped out of the training program. Fatigue was the major single reason.Ten weeks of endurance training is safe and improves fitness in patients with congenital myopathies. The training did not cause sarcomeric injury, even though sarcomeric function is affected by the genetic abnormalities in most patients with CM. Severe fatigue, which characterizes patients with CM, is a limiting factor for initiating training in CM, but tends to improve in those who train.The Regional Committee on Health Research Ethics of the Capital Region of Denmark H-2-2013-066 and ClinicalTrials.gov H2-2013-066.

  18. Stationary processes with pure point diffraction

    OpenAIRE

    Lenz, Daniel; Robert V. Moody

    2011-01-01

    We consider the construction and classification of some new mathematical objects, called ergodic spatial stationary processes, on locally compact Abelian groups, which provide a natural and very general setting for studying diffraction and the famous inverse problems associated with it. In particular we can construct complete families of solutions to the inverse problem from any given pure point measure that is chosen to be the diffraction. In this case these processes can be classified by th...

  19. Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

    Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

  20. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  1. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  2. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-11-01

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

  3. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  4. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  5. Isolated dextrocardia and congenital heart blocking

    OpenAIRE

    Khoury, Maurice; Harbieh, Bernard; Heriopian, Aline

    2015-01-01

    To our knowledge, isolated dextrocardia in association with congenital complete atrioventricular heart block has not been previously reported. We report such a case, elaborate on the possible pathogenesis, and present our experience with management.

  6. Congenital Toxoplasmosis

    Science.gov (United States)

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  7. Direct Georeferencing of Stationary LiDAR

    Directory of Open Access Journals (Sweden)

    Ahmed Mohamed

    2009-12-01

    Full Text Available Unlike mobile survey systems, stationary survey systems are given very little direct georeferencing attention. Direct Georeferencing is currently being used in several mobile applications, especially in terrestrial and airborne LiDAR systems. Georeferencing of stationary terrestrial LiDAR scanning data, however, is currently performed indirectly through using control points in the scanning site. The indirect georeferencing procedure is often troublesome; the availability of control stations within the scanning range is not always possible. Also, field procedure can be laborious and involve extra equipment and target setups. In addition, the conventional method allows for possible human error due to target information bookkeeping. Additionally, the accuracy of this procedure varies according to the quality of the control used. By adding a dual GPS antenna apparatus to the scanner setup, thereby supplanting the use of multiple ground control points scattered throughout the scanning site, we mitigate not only the problems associated with indirect georeferencing but also induce a more efficient set up procedure while maintaining sufficient precision. In this paper, we describe a new method for determining the 3D absolute orientation of LiDAR point cloud using GPS measurements from two antennae firmly mounted on the optical head of a stationary LiDAR system. In this paper, the general case is derived where the orientation angles are not small; this case completes the theory of stationary LiDAR direct georeferencing. Simulation and real world field experimentation of the prototype implementation suggest a precision of about 0.05 degrees (~1 milli-radian for the three orientation angles.

  8. Omphalocele minor associated with complete absence of the large bowel.

    LENUS (Irish Health Repository)

    Ferede, Atakelet

    2012-02-01

    Colonic atresia, unlike small intestine atresia, is a rare congenital malformation. Congenital absence of the entire colon is exceptionally rare. Moreover, an association of omphalocele and complete absence of the colon has not yet been reported in the literature. We present an infant born with such combination of congenital anomalies.

  9. Active Control of Stationary Vortices

    Science.gov (United States)

    Nino, Giovanni; Breidenthal, Robert; Bhide, Aditi; Sridhar, Aditya

    2016-11-01

    A system for active stationary vortex control is presented. The system uses a combination of plasma actuators, pressure sensors and electrical circuits deposited on aerodynamic surfaces using printing electronics methods. Once the pressure sensors sense a change on the intensity or on the position of the stationary vortices, its associated controller activates a set of plasma actuator to return the vortices to their original or intended positions. The forces produced by the actuators act on the secondary flow in the transverse plane, where velocities are much less than in the streamwise direction. As a demonstration case, the active vortex control system is mounted on a flat plate under low speed wind tunnel testing. Here, a set of vortex generators are used to generate the stationary vortices and the plasma actuators are used to move them. Preliminary results from the experiments are presented and compared with theoretical values. Thanks to the USAF AFOSR STTR support under contract # FA9550-15-C-0007.

  10. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  11. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

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

  12. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000411.htm Congenital adrenal hyperplasia To use the sharing features on this page, please enable JavaScript. Congenital adrenal hyperplasia is the name given to a group of ...

  13. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  14. Current Concepts - Congenital Scoliosis

    Science.gov (United States)

    Tikoo, Agnivesh; Kothari, Manish K.; Shah, Kunal; Nene, Abhay

    2017-01-01

    Background: Congenital scoliosis is one of the ‘difficult to treat’ scenarios which a spine surgeon has to face. Multiple factors including the age of child at presentation, no definite pattern of deformity and associated anomalies hinder the execution of the ideal treatment plan. All patients of congenital scoliosis need to be investigated in detail. X rays and MRI of spine is usually ordered first. Screening investigations to rule out VACTERL (Visceral, Anorectal, Cardiac, Tracheo-esophageal fistula, Renal and Lung) abnormalities are required. They are cardiac echocardiography and ultrasonography of abdomen and pelvis. CT scan is required to understand the complex deformity and is helpful in surgical planning. Methods: A comprehensive medical literature review was done to understand the current surgical and non surgical treatment options available. An attempt was made to specifically study limitations and advantages of each procedure. Results: The treatment of congenital scoliosis differs with respect to the age of presentation. In adults with curves more than 50 degrees or spinal imbalance the preferred treatment is osteotomy and correction. In children the goals are different and treatment strategy has to be varied according to the age of patient. A single or two level hemivertebra can easily be treated with hemivertebra excision and short segment fusion. However, more than 3 levels or multiple fused ribs and chest wall abnormalities require a guided growth procedure to prevent thoracic insufficiency syndrome. The goal of management in childhood is to allow guided spine growth till the child reaches 10 - 12 years of age, when a definitive fusion can be done. The current research needs to be directed more at the prevention and understanding the etiology of the disease. Till that time, diagnosing the disease early and treating it before the sequels set in, is of paramount importance. Conclusion: The primary aim of treatment of congenital scoliosis is to allow

  15. Bacterial Stationary-Phase Evolution

    Directory of Open Access Journals (Sweden)

    Ana Butorac

    2011-01-01

    Full Text Available Metagenomics and advances in molecular biology methods have enhanced knowledge of microbial evolution, metabolism, functions, their interactions with other organisms and their environment. The ability to persist and adapt to changes in their environment is a common lifestyle of 1 % of the known culturable bacteria. Studies in the variety of species have identified an incredible diversity of bacterial lifespan. The holy grail of molecular biology is to understand the integrated genetic and metabolic patterns of prokaryotic organisms like the enteric bacterium Escherichia coli. The usual description of E. coli life cycle comprises four phases: lag, logarithmic, stationary, and death phase, omitting their persistence and evolution during prolonged stationary phase. During prolonged stationary/starvation period, in batch bacterial culture, selected mutants with increased fitness express growth advantage in stationary phase (GASP, which enables them to grow and displace the parent cells as the majority population. The analyses of growth competition of Gram-negative and/or Gram-positive mixed bacterial cultures showed that GASP phenomenon can result in four GASP phenotypes: strong, moderate, weak or abortive. Bacterial stress responses to starvation include functions that can increase genetic variability and produce transient mutator state, which is important for adaptive evolution.

  16. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  17. Some superconcentration inequalities for extrema of stationary Gaussian Processes

    OpenAIRE

    Tanguy, Kevin

    2015-01-01

    This note is concerned with concentration inequalities for extrema of stationary Gaussian processes. It provides non-asymptotic tail inequalities which fully reflect the fluctuation rate, and as such improve upon standard Gaussian concentration. The arguments rely on the hypercontractive approach developed by Chatterjee for superconcentration variance bounds. Some statistical illustrations complete the exposition.

  18. Aerobic Training in Patients with Congenital Myopathy

    DEFF Research Database (Denmark)

    Hedermann, Gitte; Vissing, Christoffer Rasmus; Jensen, Karen

    2016-01-01

    INTRODUCTION: Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. METHODS: Patients exercised on a stationary bike for 30...... minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max). Creatine kinase (CK) was monitored as a marker of muscle damage. VO2max, functional tests, and questionnaires evaluated efficacy. RESULTS: Sixteen patients with CM were included in a controlled study. VO2max...... high, 4.9 (SE 1.9), and tended to decrease (to 4.4 (SE 1.7); p = 0.08) with training. Nine patients dropped out of the training program. Fatigue was the major single reason. CONCLUSIONS: Ten weeks of endurance training is safe and improves fitness in patients with congenital myopathies. The training...

  19. 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.

  20. A RARE CASE OF CONGENITAL ABNORMALITIES OF THE MAXILLOFACIAL REGION

    Directory of Open Access Journals (Sweden)

    Юлия Владимировна Степанова

    2014-09-01

    Full Text Available This article describes a rare case of congenital abnormality: a median facial cleft in combination with congenital complete bilateral cleft lip and palate. An integrated approach to the treatment of children with severe pathology of the maxillofacial area provides a good aesthetic and functional result. Surgical treatment in combination with orthodontic treatment, massage, myogymnastics, dynamic observation of the child contributes to the normal development of the maxillofacial area in a child with a rare congenital facial cleft.

  1. Geometry aware Stationary Subspace Analysis

    Science.gov (United States)

    2016-11-22

    JMLR: Workshop and Conference Proceedings 63:430–444, 2016 ACML 2016 Geometry -aware Stationary Subspace Analysis Inbal Horev inbal@ms.k.u-tokyo.ac.jp... geometry of the SPD matrix manifold and the invariance properties of its metrics. Most notably we show that these invariances alleviate the need to...Horev, F. Yger & M. Sugiyama. Geometry -aware SSA many theoretical and practical aspects have been addressed (see Sugiyama and Kawanabe (2012) for an in

  2. Is Congenital Syphilis Really Congenital Syphilis?

    OpenAIRE

    Yi Li; Bernard Gonik

    2006-01-01

    Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US). However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital syphilis C...

  3. High efficiency stationary hydrogen storage

    Energy Technology Data Exchange (ETDEWEB)

    Hynek, S.; Fuller, W.; Truslow, S. [Arthur D. Little, Inc., Cambridge, MA (United States)

    1995-09-01

    Stationary storage of hydrogen permits one to make hydrogen now and use it later. With stationary hydrogen storage, one can use excess electrical generation capacity to power an electrolyzer, and store the resultant hydrogen for later use or transshipment. One can also use stationary hydrogen as a buffer at fueling stations to accommodate non-steady fueling demand, thus permitting the hydrogen supply system (e.g., methane reformer or electrolyzer) to be sized to meet the average, rather than the peak, demand. We at ADL designed, built, and tested a stationary hydrogen storage device that thermally couples a high-temperature metal hydride to a phase change material (PCM). The PCM captures and stores the heat of the hydriding reaction as its own heat of fusion (that is, it melts), and subsequently returns that heat of fusion (by freezing) to facilitate the dehydriding reaction. A key component of this stationary hydrogen storage device is the metal hydride itself. We used nickel-coated magnesium powder (NCMP) - magnesium particles coated with a thin layer of nickel by means of chemical vapor deposition (CVD). Magnesium hydride can store a higher weight fraction of hydrogen than any other practical metal hydride, and it is less expensive than any other metal hydride. We designed and constructed an experimental NCM/PCM reactor out of 310 stainless steel in the form of a shell-and-tube heat exchanger, with the tube side packed with NCMP and the shell side filled with a eutectic mixture of NaCL, KCl, and MgCl{sub 2}. Our experimental results indicate that with proper attention to limiting thermal losses, our overall efficiency will exceed 90% (DOE goal: >75%) and our overall system cost will be only 33% (DOE goal: <50%) of the value of the delivered hydrogen. It appears that NCMP can be used to purify hydrogen streams and store hydrogen at the same time. These prospects make the NCMP/PCM reactor an attractive component in a reformer-based hydrogen fueling station.

  4. An unusual congenital scrotal lymphatic malformation with absent corpora cavernosa: a case report.

    Science.gov (United States)

    Joshi, Avinash V; Gupta, Rahul K; Shah, Hemanshi; Parelkar, Sandesh; Gupta, Abhaya; Jadhav, Vinay

    2008-09-01

    Congenital lymphatic malformations of the genitourinary tract are rare. A 2-day-old male child who presented with congenital scrotal swelling extending into the penile shaft was investigated and successfully treated with complete excision. We report this unusual case of congenital scrotal lymphatic malformation with absent corpora cavernosa for its rarity, which is not yet discussed in the medical literature.

  5. Distal limb anomalies in patients with congenital dyserythropoietic anemia.

    Science.gov (United States)

    Amir, Achiya Zvi; Horev, Gadi; Yacobovich, Joanne; Bennett, Michael; Tamary, Hannah

    2017-02-01

    The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies. The patient with congenital dyserythropoietic anemia type II presented with bilateral complete osseous syndactyly of the hands, and bilateral complete cutaneous syndactyly of feet. Three of the four affected family members with congenital dyserythropoietic anemia type III had partial absence of fingers, small or absent nails, overlapping toes, and short metatarsals. We suggest that similar to congenital dyserythropoietic anemia type I, distal anomalies may appear in some patients with congenital dyserythropoietic anemia types II and III. Patients presenting with anemia and distal limb anomalies should be further investigated for the presence of congenital dyserythropoietic anemia. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  6. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  7. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  8. Electrophysiological assessment of the retina in children with congenital nystagmus

    Directory of Open Access Journals (Sweden)

    Alma Beharić

    2012-06-01

    Results: Abnormal ERG in both eyes was found in 20 of the 100 children under the study. Sensory nystagmus was classified in 40 of the children, in 12/40 of the children with abnormal ERG the following retinal abnormalities were observed: Leber congenital amaurosis in 6/12 children, suspected congenital stationary night blindness in 3/12 children and suspected achromatopsia in 3/12 children. In the group of neurological nystagmus (35 children 5 children had abnormal ERG that could not be explained in the context of broader clinical picture. In the group with idiopathic nystagmus (21 children all chidren had normal ERG. Conclusions: In infants with congenital nystagmus, it is possible to record ERGs with skin electrodes that can provide important information on normal or abnormal retinal function already in the first few months after birth.

  9. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...

  10. Predictors of pregnancy complications in women with congenital heart disease

    NARCIS (Netherlands)

    Drenthen, Willem; Boersma, Eric; Balci, Ali; Moons, Philip; Roos-Hesselink, Jolien W.; Mulder, Barbara J. M.; Vliegen, Hubert W.; van Dijk, Arie P. J.; Voors, Adriaan A.; Yap, Sing C.; van Veldhuisen, Dirk J.; Pieper, Petronella G.

    Aims Data regarding pregnancy outcome in women with congenital heart disease (CHD) are limited. Methods and results In 1802 women with CHD, 1302 completed pregnancies were observed. Independent predictors of cardiac, obstetric, and neonatal complications were calculated using logistic regression.

  11. Congenital spine anomalies: the closed spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-09-15

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

  12. Congenital distichiasis: Histopathological report of 3 cases

    Directory of Open Access Journals (Sweden)

    Hind Manaa Alkatan

    2017-07-01

    Full Text Available Distichiasis is a condition clinically presenting as partial or complete accessory row of lashes that emerges from the meibomian glands orifices. It can be an acquired or congenital with an autosomal dominant inheritance. The histopathological features are not well described in the ophthalmic literature, however they include abnormal pilosebaceous units within the posterior lamella of the eyelid and perifollicular chronic inflammatory cell infiltration. In this report, we describe the histopathological findings of three congenital distichiasis cases treated at King Khaled Eye Specialist Hospital (KKESH, Riyadh, Saudi Arabia with discussion on the pathogenesis of such a condition and the differentiating features from ectopic cilia.

  13. CONGENITAL TOXOPLASMOSIS: CLINICAL COURSE AND RESIDUAL OUTCOMES

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2014-01-01

    Full Text Available We examined 69 infants with clinically manifested forms of congenital toxoplasmosis diagnosed in theStavropolregion in the period from 1992 to 2012. The clinical course was characterized by a predominance of severe forms of congenial toxoplasmosis, high mortality rate (39,1%, predominant damage the central nervous system (100% and adverse neurological outcome. Surviving children developed disabilities at the outcome of congenital toxoplasmosis such as hydrocephaly (71,4%, microcephaly (9,5%, cerebral palsy (52,4%, episindroma (16,7%, mental retardation (19,0 % complete or partial blindness (28,6%. 

  14. Giant Congenital Melanocytic Naevi: review of literature

    Directory of Open Access Journals (Sweden)

    A. Marchesi

    2012-04-01

    Full Text Available giant congenital pigmented naevi is a great reconstructive challenge for the pediatric and plastic surgeons. due to the increased risk of malignant transformation in such lesions, many procedures have been used to remove giant congenital naevi like dermoabrasion, laser treatment or surgical excision combined with reconstruction through skin expansion or skin grafting; among these, only a complete excision can offer an efficacious treatment. in our centre we use the “tissue expansion” technique in order to achieve a sufficient quantity of normal skin to perform a both staged and radical excision of these giant lesions.

  15. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  16. Congenital Adrenal Hyperplasia

    National Research Council Canada - National Science Library

    Speiser, Phyllis W

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group...

  17. Stationary power fuel cell commercialization status worldwide

    Energy Technology Data Exchange (ETDEWEB)

    Williams, M.C. [Dept. of Energy, Morgantown, WV (United States)

    1996-12-31

    Fuel cell technologies for stationary power are set to play a role in power generation applications worldwide. The worldwide fuel cell vision is to provide powerplants for the emerging distributed generation and on-site markets. Progress towards commercialization has occurred in all fuel cell development areas. Around 100 ONSI phosphoric acid fuel cell (PAFC) units have been sold, with significant foreign sales in Europe and Japan. Fuji has apparently overcome its PAFC decay problems. Industry-driven molten carbonate fuel cell (MCFC) programs in Japan and the U.S. are conducting megawatt (MW)-class demonstrations, which are bringing the MCFC to the verge of commercialization. Westinghouse Electric, the acknowledged world leader in tubular solid oxide fuel cell (SOFC) technology, continues to set performance records and has completed construction of a 4-MW/year manufacturing facility in the U.S. Fuel cells have also taken a major step forward with the conceptual development of ultra-high efficiency fuel cell/gas turbine plants. Many SOFC developers in Japan, Europe, and North America continue to make significant advances.

  18. Congenital cytomegalovirus infection

    OpenAIRE

    D'Oronzio, U; Arlettaz, R.; Hagmann, C.

    2015-01-01

    Clinical details of 50 infants with congenital cytomegalovirus infection identified in a prospective study are reported. The mean birthweight, gestational age, and head circumference of children with congenital cytomegalovirus infection were not significantly different from those of controls. Three (6%) had symptoms at birth--two neurological and one pneumonitis. In the first four months of life transient hepatosplenomegaly occurred in two infected children and six suffered interstitial pneum...

  19. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

  20. Differential Protein Expression in Congenital and Acquired Cholesteatomas.

    Directory of Open Access Journals (Sweden)

    Seung-Ho Shin

    Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

  1. Defects in the Error Prevention Oxidized Guanine System Potentiate Stationary-Phase Mutagenesis in Bacillus subtilis▿

    Science.gov (United States)

    Vidales, Luz E.; Cárdenas, Lluvia C.; Robleto, Eduardo; Yasbin, Ronald E.; Pedraza-Reyes, Mario

    2009-01-01

    Previous studies showed that a Bacillus subtilis strain deficient in mismatch repair (MMR; encoded by the mutSL operon) promoted the production of stationary-phase-induced mutations. However, overexpression of the mutSL operon did not completely suppress this process, suggesting that additional DNA repair mechanisms are involved in the generation of stationary-phase-associated mutants in this bacterium. In agreement with this hypothesis, the results presented in this work revealed that starved B. subtilis cells lacking a functional error prevention GO (8-oxo-G) system (composed of YtkD, MutM, and YfhQ) had a dramatic propensity to increase the number of stationary-phase-induced revertants. These results strongly suggest that the occurrence of mutations is exacerbated by reactive oxygen species in nondividing cells of B. subtilis having an inactive GO system. Interestingly, overexpression of the MMR system significantly diminished the accumulation of mutations in cells deficient in the GO repair system during stationary phase. These results suggest that the MMR system plays a general role in correcting base mispairing induced by oxidative stress during stationary phase. Thus, the absence or depression of both the MMR and GO systems contributes to the production of stationary-phase mutants in B. subtilis. In conclusion, our results support the idea that oxidative stress is a mechanism that generates genetic diversity in starved cells of B. subtilis, promoting stationary-phase-induced mutagenesis in this soil microorganism. PMID:19011023

  2. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    BACKGROUND: Congenital heart diseases are commonly associated with other extra cardiac congenital malformations. OBJECTIVE: To identify congenital heart diseases associated with identified syndromes and other extra cardiac congenital malformations in children in our hospital. METHODS: A prospective descriptive ...

  3. Acceptance and psychological impact of implantable defibrillators amongst adults with congenital heart disease.

    Science.gov (United States)

    Bedair, Radwa; Babu-Narayan, Sonya V; Dimopoulos, Konstantinos; Quyam, Sadia; Doyle, Anne-Marie; Swan, Lorna; Gatzoulis, Michael A; Wong, Tom

    2015-02-15

    The psychological impact of implantable cardioverter defibrillators (ICDs) in adults with congenital heart disease (ACHD) has not been established. To compare device acceptance, quality of life, anxiety and depression between ACHD patients with ICDs (ICD-Congenital), with pacemakers (PPM-Congenital), with no devices (No Device-Congenital) and non-ACHD patients with ICDs (ICD-Non-Congenital). A total of 147 ACHD and 46 non-ACHD patients (age 45.0±14.7 years, 56.5% males) completed the Florida Patient Acceptance Survey (FPAS), the 36-item Short Form Health Survey (SF-36) and Hospital Anxiety & Depression Scale (HADS). ICD-Congenital patients (n=59) showed lower device acceptance compared to PPM-Congenital patients (n=41), p=0.04, and reported worse quality of life (p=0.001) and higher prevalence of depression (p=0.009) when compared to No Device-Congenital (n=47) patients. ICD-Congenital and ICD-Non-Congenital patients (n=46) showed similar mental and physical health, device acceptance, anxiety and depression. Within ICD-Congenital, patients with poorest device acceptance (FPAS congenital heart disease who receive an ICD than those who receive pacemakers. Appropriate screening for anxiety and depression may be warranted for ACHD patients considered for ICD implantation or already living with ICDs. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  4. Congenital absence of superficial posterior compartment calf muscles.

    Science.gov (United States)

    Tibrewal, Saket; Alyas, Faisal; Vemulapalli, Krishna

    2014-06-01

    Although various congenital abnormalities have been described, congenital absence of calf musculature is extremely rare, with only one report on its complete absence. We are the first to describe a case of congenital absence of muscles of the superficial posterior compartment of the calf presenting in a toddler. The child presented with a history of a painless limp, however no significant difference was found in functional gait analysis. We suggest that such cases should be monitored and parents can be reassured that no immediate treatment is required.

  5. Congenital Malaria in China

    Science.gov (United States)

    Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-01-01

    Abstract Background Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum–endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax–endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Methods/Principal Findings Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured

  6. Dampers for Stationary Labyrinth Seals

    Science.gov (United States)

    El-Aini, Yehia; Mitchell, William; Roberts, Lawrence; Montgomery, Stuart; Davis, Gary

    2011-01-01

    Vibration dampers have been invented that are incorporated as components within the stationary labyrinth seal assembly. These dampers are intended to supplement other vibration-suppressing features of labyrinth seals in order to reduce the incidence of high-cycle-fatigue failures, which have been known to occur in the severe vibratory environments of jet engines and turbopumps in which labyrinth seals are typically used. A vibration damper of this type includes several leaf springs and/or a number of metallic particles (shot) all held in an annular seal cavity by a retaining ring. The leaf springs are made of a spring steel alloy chosen, in conjunction with design parameters, to maintain sufficient preload to ensure effectiveness of damping at desired operating temperatures. The cavity is vented via a small radial gap between the retaining ring and seal housing. The damping mechanism is complex. In the case of leaf springs, the mechanism is mainly friction in the slippage between the seal housing and individual dampers. In the case of a damper that contains shot, the damping mechanism includes contributions from friction between individual particles, friction between particles and cavity walls, and dissipation of kinetic energy of impact. The basic concept of particle/shot vibration dampers has been published previously; what is new here is the use of such dampers to suppress traveling-wave vibrations in labyrinth seals. Damping effectiveness depends on many parameters, including, but not limited to, coefficient of friction, mode shape, and frequency and amplitude of vibrational modes. In tests, preloads of the order of 6 to 15 lb (2.72 to 6.8 kilograms) per spring damper were demonstrated to provide adequate damping levels. Effectiveness of shot damping of vibrations having amplitudes from 20 to 200 times normal terrestrial gravitational acceleration (196 to 1,960 meters per square second) and frequencies up to 12 kHz was demonstrated for shot sizes from 0.032 to

  7. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  8. Congenital Diseases of the Intestine

    NARCIS (Netherlands)

    D. Halim (Danny)

    2016-01-01

    markdownabstractAll research described in this dissertation is focused on understanding the pathophysiology of three rare congenital diseases of the intestine, including megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), congenital short bowel syndrome (CSBS), and hereditary multiple

  9. Stationary Liquid Fuel Fast Reactor

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Won Sik [Purdue Univ., West Lafayette, IN (United States); Grandy, Andrew [Argonne National Lab. (ANL), Argonne, IL (United States); Boroski, Andrew [Argonne National Lab. (ANL), Argonne, IL (United States); Krajtl, Lubomir [Argonne National Lab. (ANL), Argonne, IL (United States); Johnson, Terry [Argonne National Lab. (ANL), Argonne, IL (United States)

    2015-09-30

    For effective burning of hazardous transuranic (TRU) elements of used nuclear fuel, a transformational advanced reactor concept named SLFFR (Stationary Liquid Fuel Fast Reactor) was proposed based on stationary molten metallic fuel. The fuel enters the reactor vessel in a solid form, and then it is heated to molten temperature in a small melting heater. The fuel is contained within a closed, thick container with penetrating coolant channels, and thus it is not mixed with coolant nor flow through the primary heat transfer circuit. The makeup fuel is semi- continuously added to the system, and thus a very small excess reactivity is required. Gaseous fission products are also removed continuously, and a fraction of the fuel is periodically drawn off from the fuel container to a processing facility where non-gaseous mixed fission products and other impurities are removed and then the cleaned fuel is recycled into the fuel container. A reference core design and a preliminary plant system design of a 1000 MWt TRU- burning SLFFR concept were developed using TRU-Ce-Co fuel, Ta-10W fuel container, and sodium coolant. Conservative design approaches were adopted to stay within the current material performance database. Detailed neutronics and thermal-fluidic analyses were performed to develop a reference core design. Region-dependent 33-group cross sections were generated based on the ENDF/B-VII.0 data using the MC2-3 code. Core and fuel cycle analyses were performed in theta-r-z geometries using the DIF3D and REBUS-3 codes. Reactivity coefficients and kinetics parameters were calculated using the VARI3D perturbation theory code. Thermo-fluidic analyses were performed using the ANSYS FLUENT computational fluid dynamics (CFD) code. Figure 0.1 shows a schematic radial layout of the reference 1000 MWt SLFFR core, and Table 0.1 summarizes the main design parameters of SLFFR-1000 loop plant. The fuel container is a 2.5 cm thick cylinder with an inner radius of 87.5 cm. The fuel

  10. Congenital myopathy is caused by mutation of HACD1

    OpenAIRE

    Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; DeLuca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C.; Parvari, Ruti

    2013-01-01

    Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abro...

  11. 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.

  12. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  14. Early developmental outcomes of children with congenital HHV-6 infection.

    Science.gov (United States)

    Caserta, Mary T; Hall, Caroline B; Canfield, Richard L; Davidson, Philip; Lofthus, Gerry; Schnabel, Kenneth; Carnahan, Jennifer; Shelley, Lynne; Wang, Hongyue

    2014-12-01

    The goal of this study was to determine if congenital human herpesvirus-6 (HHV-6) infection influences early neurodevelopment. We enrolled 57 newborns with HHV-6 congenital infection and 242 control newborns without congenital infection into a prospective, double-blind study with 4 visits between 4 and 30 months of age. Assessments included the Fagan Test of Infant Intelligence, the Visual Expectation Paradigm, and the Mental Development Index (MDI) of the Bayley Scales of Infant Development II. Newborn audiology screening and follow-up audiology examinations were completed at 12 to 24 months. No differences were noted in baseline characteristics between infants with HHV-6 congenital infection and control infants. No clinical syndrome due to congenital infection with HHV-6 was evident at birth. No differences were identified on the Fagan Test of Infant Intelligence or the Visual Expectation Paradigm between the two groups. In 39 infants with HHV-6 congenital infection, the mean ± SD Bayley Scale of Infant Development II MDI score was 103.4 ± 8.9 at 12 months of age. The matched control infants had a mean score of 105.4 ± 12.4. After controlling for covariates, HHV-6 congenital infection was associated with lower scores on the Bayley Scale of Infant Development II MDI at 12 months of age (mean difference: 4.3 [95% confidence interval: 0.4 to 8.1]; P = .03) compared with infants without HHV-6 congenital infection. Congenital HHV-6 infection may have a detrimental effect on neurodevelopment at 12 months of age and requires further study given that congenital infection with HHV-6 is present in ∼1 in every 101 births. Copyright © 2014 by the American Academy of Pediatrics.

  15. Congenital syphilis in the newborn.

    OpenAIRE

    V; Chawla; Pandit, P B; Nkrumah, F K

    1988-01-01

    We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.

  16. Congenital Toxoplasmosis: A Review.

    Science.gov (United States)

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  17. Congenital Hemolytic Anemia.

    Science.gov (United States)

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...... the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses....

  19. 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.

  20. 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.

  1. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  2. Complete atrioventricular canal

    Directory of Open Access Journals (Sweden)

    Limongelli Giuseppe

    2006-04-01

    Full Text Available Abstract Complete atrioventricular canal (CAVC, also referred to as complete atrioventricular septal defect, is characterised by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. CAVC is an uncommon congenital heart disease, accounting for about 3% of cardiac malformations. Atrioventricular canal occurs in two out of every 10,000 live births. Both sexes are equally affected and a striking association with Down syndrome was found. Depending on the morphology of the superior leaflet of the common atrioventricular valve, 3 types of CAVC have been delineated (type A, B and C, according to Rastelli's classification. CAVC results in a significant interatrial and interventricular systemic-to-pulmonary shunt, thus inducing right ventricular pressure and volume overload and pulmonary hypertension. It becomes symptomatic in infancy due to congestive heart failure and failure to thrive. Diagnosis of CAVC might be suspected from electrocardiographic and chest X-ray findings. Echocardiography confirms it and gives anatomical details. Over time, pulmonary hypertension becomes irreversible, thus precluding the surgical therapy. This is the reason why cardiac catheterisation is not mandatory in infants (less than 6 months but is indicated in older patients if irreversible pulmonary hypertension is suspected. Medical treatment (digitalis, diuretics, vasodilators plays a role only as a bridge toward surgery, usually performed between the 3rd and 6th month of life.

  3. Congenital syphilis surveillance

    Directory of Open Access Journals (Sweden)

    Antonella Marangoni

    2011-06-01

    Full Text Available Congenital syphilis (CS is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was to evaluate the usefulness of Treponema pallidum IgM Western Blot (WB and Polymerase Chain Reaction (PCR on cerebrospinal fluid (CSF as an aid in the diagnosis of CS during a prospective surveillance study carried out at St. Orsola Hospital in Bologna, Italy, from November 2000 through June 2010. All pregnant women during pregnancy and at delivery were screened for syphilis by ARCHITECT® Syphilis TP, Abbott. Positive samples were further analysed by Treponema Pallidum Hemagglutination Test (TPHA and Rapid Plasma Reagin (RPR tests, Radim.An in-house Western Blot (WB was also performed. Infants born to syphilis seropositive mothers were enrolled in a prospective follow up. At birth, tests were performed (including IgM WB. Infants with positive RPR tests at birth born to mothers not adequately treated received also a long bone radiograph as well as a complete CSF analysis, including Veneral Disease Research Laboratori (VDRL (Siemens Healthcare Diagnostics and PCR testing. All seroreactive infants received careful follow up examinations and serological testing at 0, 3, 6, 9, 12 months or until the tests became negative. In this study, positive syphilis serology was noted in 151 pregnant women delivering in our hospital. Fifteen women had never been adequately treated, and 9 out 15 gave birth to infected newborns.All these 9 infants had positive IgM WB results on serum samples. Two babies had characteristic long bone lesions at X-ray examination and 3 were born

  4. The congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  5. Congenital Lumbar Hernia

    OpenAIRE

    Sanjay Sharma; Gagan Bali; Satish Parihar; Neeraj Koul

    2008-01-01

    Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  6. CONGENITAL URETHROPERINEAL FISTULA: REPORT

    African Journals Online (AJOL)

    CONGENiTAL URETHROPERINEAL FISTULA l8 A'DISTINCT TYPE OF URETHRAL DUPLlCATION. gram revealed a normal dorsal urethra and failed to opacity the fistulous tract, but the fis- tula was demonstrated by injection of contrast through the perineal orifice (tistulogram). Cystourethroscopy revealed a normal dor~.

  7. Congenital heart disease

    Science.gov (United States)

    ... for acne, chemicals, alcohol, and infections (such as rubella ) during pregnancy can contribute to some congenital heart problems. Poorly ... medicines. Have a blood test early in your pregnancy to see if you are immune to rubella. If you are not immune, avoid any possible ...

  8. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    INTRODUCTION. Mild degrees of congenital lymphoedema are considered common in the normal population, reflecting normal developmental variability in the regression of the lymphoedema present in every fetus before birth (1). The most common clinical causes of lymphedema are generally not inherited, occurring as.

  9. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  10. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  11. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    the intestines, but were also found in the pleura, pericardium, thyroid gland, and kidney. Several patients demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features were variable, and were chiefly characterised, in a typical patient, ...

  12. Congenital Heart Defects

    Science.gov (United States)

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

  13. Congenital aggressive lipomatosis

    Energy Technology Data Exchange (ETDEWEB)

    Lachmann, R.S.; Mehringer, C.M.; Finklestein, J.; Maenza, R.

    1983-05-01

    Three cases of congenital lipomatosis involving the thoracic region posteriorly are presented delineating the natural history of the disease and depicting underlying bone and soft tissue changes. The rib widening and pleural thickening appear to be related to increased intercostal vascularity feeding the overlying tumor, as delineated by angiography. This entity is not described in the radiologic literature.

  14. Congenital syphilis who risk?

    African Journals Online (AJOL)

    1989-08-05

    Aug 5, 1989 ... The prevalence of syphilis (or positive serology) in pregnant mothers delivering at Baragwanath Hospital, Johannesburg, was assessed in order to try to establish the prevalence of congenital syphilis and possibly to identify a specific popula- tion at risk. From August 1985 to January 1986 all mothers.

  15. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Johnson Francis

    2016-01-01

    Full Text Available Congenital short QT syndrome (SQTS is characterised by extremely short QT intervals, typically with QTc less than 330 ms and a propensity for life threatening ventricular arrhythmias and atrial fibrillation. The QT interval in SQTS does not change significantly with heart rate and the T waves have a narrow base and high voltage, similar to those in hyperkalemia.

  16. Classic congenital adrenal hyperplasia.

    Science.gov (United States)

    Nermoen, Ingrid; Husebye, Eystein S; Myhre, Anne Grethe; Løvås, Kristian

    2017-04-01

    Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.

  17. Network Completion for Static Gene Expression Data

    Directory of Open Access Journals (Sweden)

    Natsu Nakajima

    2014-01-01

    Full Text Available We tackle the problem of completing and inferring genetic networks under stationary conditions from static data, where network completion is to make the minimum amount of modifications to an initial network so that the completed network is most consistent with the expression data in which addition of edges and deletion of edges are basic modification operations. For this problem, we present a new method for network completion using dynamic programming and least-squares fitting. This method can find an optimal solution in polynomial time if the maximum indegree of the network is bounded by a constant. We evaluate the effectiveness of our method through computational experiments using synthetic data. Furthermore, we demonstrate that our proposed method can distinguish the differences between two types of genetic networks under stationary conditions from lung cancer and normal gene expression data.

  18. Three cases with unusual ophthalmic phenotypes of congenital aniridia.

    Science.gov (United States)

    Lee, Na Young; Lee, Yong Eun; Mok, Jeewon; Kim, Myungshin; Park, Shin Hae

    2013-08-01

    To report 3 cases with unusual ophthalmic phenotypes of congenital aniridia. Interventional case series. A 10-day-old infant with cloudy and large cornea in both eyes, 1 month-old male with bilateral corneal opacity, and 27-year-old male with low vision. Complete ophthalmic examination and genetic evaluation. Case 1 was a neonate with concurrent presentation of congenital aniridia and glaucoma. Case 2 was diagnosed as congenital aniridia combined with Peters anomaly in both eyes. Case 3 had 2 unusual features of aniridia, which were asymmetric iris involvement and absence of limbal deficiency. It is important to perform thorough ophthalmologic evaluations in patients with congenital aniridia because of the possibilities of coexistence of other ocular abnormalities. Copyright © 2013. Published by Elsevier Inc.

  19. Osteopathic manipulative treatment of congenital talipes equinovarus: a case report.

    Science.gov (United States)

    Andreoli, Elda; Troiani, Andrea; Tucci, Valentina; Barlafante, Gina; Cerritelli, Francesco; Pizzolorusso, Gianfranco; Renzetti, Cinzia; Vanni, Daniele; Pantalone, Andrea; Salini, Vincenzo

    2014-01-01

    Treatment recommendations for congenital talipes equinovarus are focused on conservative treatments. The aim of this paper is to present a case report of bilateral congenital talipes equinovarus treated with two short-leg serial casting in combination with osteopathic manipulative treatment. A newborn, 12 days old, with severe bilateral congenital talipes equinovarus entered to the Department of Orthopedics at the University of Chieti, Italy. The pediatric orthopedic surgeon applied two single series of short-leg casts, at 12 and 20 days of age. The osteopath scheduled 4 indirect myofascial release techniques sessions. At day 33 the newborn achieved a complete correction of the congenital talipes equinovarus deformity and there was no need to apply a third series of casts. Results from this single case study create an interesting and clear precedent for considering OMT in future clinical trials. Copyright © 2013 Elsevier Ltd. All rights reserved.

  20. [Van Nes rotationplasty in two patients with congenital femoral deficiency].

    Science.gov (United States)

    Ozkan, Korhan; Kocaoğlu, Mehmet; Eralp, Levent; Yağmurlu, Firat

    2005-01-01

    Congenital femoral deficiencies have a wide spectrum ranging from simple hypoplasia to complete femoral aplasia. They are often associated with congenital shortening of the tibia and fibular hemimelia. This anomaly has no known genetic transmission. There are two main treatment modalities for congenital femoral deficiency: prosthetic replacement surgery (Syme amputation or Van Nes rotationplasty followed by prosthetic fitting) and lengthening reconstruction surgery. In this report, we presented two patients (male, 26 years; girl, 7 years) with congenital femoral deficiency treated with Van Nes rotationplasty. In both cases, the treatment took 1.5 months, after which the patients were mobilized with prosthesis. No complications were encountered within a follow-up period of five years and 1.5 years, respectively. Rotationplasty enables an improved functional gait in patients with a very short femoral segment or Paley type 3 femoral deficiency.

  1. [Action Plan to Improve the Utilization of Stationary Bikes in a Health Promotion Exercise Program].

    Science.gov (United States)

    Huang, Yu-Yen; Chen, Hsiu-Yuen; Wu, Chia-Chien; Chen, Yao-Mei

    2015-06-01

    Research has shown that exercise helps reduce the risk and the severity of metabolic syndrome. Since 2009, KMHK hospital has implemented a primary-prevention health promotion program that targets individuals who are at elevated risk of metabolic syndrome. The program engages participants in an exercise protocol that asks them to exercise regularly on a stationary bike three times a week for six months. The utilization rate of the stationary bikes averaged 75% in 2010, but reduced to 34.7% in 2011, with an average withdrawal rate of 24.3%. Therefore, an action team was assembled in order to enhance the effectiveness of the program. This project used two primary strategies to increase the utilization of stationary bikes. These strategies included: increasing referrals and decreasing withdrawals. Surveys of participants who, respectfully, failed to complete and successfully completed the exercise protocol were conducted to identify the factors associated with non-completion / completion. The enrollment policies, the equipment, and the environment were inspected comprehensively. After identifying the causes and effects, several interventions were implemented. These interventions included: installing insulation curtains to block direct sunlight, upgrading the stationary bikes to newer models, creating an environment more conducive to exercise, promoting the referral policies, marketing the health promotion program, and securing family support. After three months, the utilization rate of stationary bikes increased to 77.8%, representing an improvement rate of 124%. Furthermore, the number of case referrals significantly increased and the withdrawal rate decreased to 4.8%. Finally, longer-term follow up indicates that the utilization rate and the withdrawal rate have continued to improve. The program implemented in the present study successfully enrolled more participants in the exercise protocol, as evidenced by the increased utilization of stationary bikes and by the

  2. An experimental stationary quadrotor with variable DOF

    Indian Academy of Sciences (India)

    It would be wise to extend control studies of air vehicles on a stationary unit or in simula- tion environment because of the ... to decouple different motion axis of the vehicle so that control algorithm effects can be observed. While mechatronic design ..... Quadrotor Unmanned Aerial Vehicle, J. Electric. Eng., 57(1):20–27.

  3. Damping device for a stationary labyrinth seal

    Science.gov (United States)

    El-Aini, Yehia M. (Inventor); Mitchell, William S. (Inventor); Roberts, Lawrence P. (Inventor); Montgomery, Stuart K. (Inventor); Davis, Gary A. (Inventor)

    2010-01-01

    A stationary labyrinth seal system includes a seal housing having an annular cavity, a plurality of damping devices, and a retaining ring. The damping devices are positioned within the annular cavity and are maintained within the annular cavity by the retaining ring.

  4. New interval forecast for stationary autoregressive models ...

    African Journals Online (AJOL)

    In this paper, we proposed a new forecasting interval for stationary Autoregressive, AR(p) models using the Akaike information criterion (AIC) function. Ordinarily, the AIC function is used to determine the order of an AR(p) process. In this study however, AIC forecast interval compared favorably with the theoretical forecast ...

  5. Taylor series expansions for stationary Markov chains

    NARCIS (Netherlands)

    Heidergott, B.F.; Hordijk, A.

    2003-01-01

    We study Taylor series expansions of stationary characteristics of general-state-space Markov chains. The elements of the Taylor series are explicitly calculated and a lower bound for the radius of convergence of the Taylor series is established. The analysis provided in this paper applies to the

  6. Calendar Year 2016 Stationary Source Emissions Inventory

    Energy Technology Data Exchange (ETDEWEB)

    Evelo, Stacie [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2017-01-01

    The City of Albuquerque (COA) Environmental Health Department Air Quality Program has issued stationary source permits and registrations the Department of Energy/Sandia Field Office for operations at the Sandia National Laboratories/New Mexico. This emission inventory report meets the annual reporting compliance requirements for calendar year (CY) 2016 as required by the COA.

  7. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  8. Update on congenital glaucoma

    Directory of Open Access Journals (Sweden)

    Mandal Anil

    2011-12-01

    Full Text Available Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy-trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must.

  9. Update on congenital glaucoma

    Science.gov (United States)

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  10. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  11. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    Science.gov (United States)

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  12. On Common Fixed Point Theorems in the Stationary Fuzzy Metric Space of the Bounded Closed Sets

    Directory of Open Access Journals (Sweden)

    Dong Qiu

    2013-01-01

    Full Text Available Under the -contraction conditions, we prove common fixed point theorems for self-mappings in the space of the bounded closed sets in the complete stationary fuzzy metric space with the -fuzzy metric for the bounded closed sets.

  13. Stationary Cycling and Children with Cerebral Palsy: Case Reports for Two Participants

    Science.gov (United States)

    Siebert, Kara L.; DeMuth, Sharon K.; Knutson, Loretta M.; Fowler, Eileen G.

    2010-01-01

    These case reports describe a stationary cycling intervention and outcomes for two child participants (P1 and P2) with spastic diplegic cerebral palsy. Each child completed a 12-week, 30-session cycling intervention consisting of strengthening and cardiorespiratory fitness phases. P1 exhibited higher training intensities, particularly during the…

  14. Other congenital abnormalities.

    Science.gov (United States)

    Cobbett, J R

    1974-06-29

    The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion.

  15. Congenital syphilis: literature review

    OpenAIRE

    Eduardo Chaida Sonda; Felipe Farias Richter; Graziela Boschetti; Marcela Pase Casasola; Candice Franke Krumel; Cristiane Pimentel Hernandes Machado

    2013-01-01

    Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher ...

  16. Congenital polycythemia in Chuvashia.

    Science.gov (United States)

    Sergeyeva, A; Gordeuk, V R; Tokarev, Y N; Sokol, L; Prchal, J F; Prchal, J T

    1997-03-15

    Familial and congenital polycythemia, not due to high oxygen affinity hemoglobin or reduced 2,3-diphosphoglycerate in erythrocytes, is common in the Chuvash population of the Russian Federation. Hundreds of individuals appear to be affected in an autosomal recessive pattern. We studied six polycythemic Chuvash patients <20 years of age from unrelated families and 12 first-degree family members. Hemoglobins were markedly elevated in the index subjects (mean +/- standard deviation [SD] of 22.6 +/- 1.4 g/dL), while platelet and white blood cell counts were normal. Although performed in only three of the index subjects, serum erythropoietin concentrations determined by both radioimmune and functional assays were significantly higher in polycythemic patients compared with first-degree family members with normal hemoglobin concentrations. Southern blot analysis of the Bgl 2 erythropoietin gene polymorphism showed that one polycythemic subject was a heterozygote, suggesting the absence of linkage of polycythemia with the erythropoietin gene, assuming autosomal recessive inheritance. Polymerase chain reaction (PCR) amplification of the GGAA and GA minisatellite polymorphic regions of the erythropoietin receptor gene showed no evidence of linkage of phenotype with this gene. We conclude that Chuvash polycythemia may represent a secondary form of familial and congenital polycythemia of as yet unknown etiology. This condition is the only endemic form of familial and congenital polycythemia described.

  17. Congenital syphilis, still a reality

    OpenAIRE

    Rajat Gupta; Vora, Rita V.

    2013-01-01

    Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. Even one case of congenital syphilis is a sentinel public health event, since timely diagnosis and treatment of syphilis infected pregnant woman should prevent transmission almost entirely. Here, we are reporting a case of early symptomatic congenital syphilis presented with severe desquamating papulosquamous lesions over multiple body parts along with erosive lesions around oral cavity and nostrils.

  18. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  19. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... blood cells. This disorder is one of many types of anemia , which is a condition characterized by a shortage ... link) PubMed OMIM (3 links) ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE ...

  20. Genetics Home Reference: congenital diaphragmatic hernia

    Science.gov (United States)

    ... Home Health Conditions Congenital diaphragmatic hernia Congenital diaphragmatic hernia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, ...

  1. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  2. Early detection of congenital syphilis.

    Science.gov (United States)

    Chowdhary, Nagalakshmi; Rani, Bs Kavya; Mukunda, K S; Kiran, N K

    2014-01-01

    Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson's teeth.

  3. Framework for Assessing Biogenic CO2 Emissions from Stationary Sources

    Science.gov (United States)

    This revision of the 2011 report, Accounting Framework for Biogenic CO2 Emissions from Stationary Sources, evaluates biogenic CO2 emissions from stationary sources, including a detailed study of the scientific and technical issues associated with assessing biogenic carbon dioxide...

  4. Danish emission inventories for stationary combustion plants

    DEFF Research Database (Denmark)

    Nielsen, M.; Illerup, J. B.

    Emission inventories for stationary combustion plants are presented and the methodologies and assumptions used for the inventories are described. The pollutants considered are: SO2, NOx, NMVOC, CH4, CO, CO2, N2O, particulate matter, heavy metals, dioxins and PAH. Since 1990 the fuel consumption...... in stationary combustion has increased by 12% - the fossil fuel consumption however only by 6%. Despite the increased fuel consumption the emission of several pollutants have decreased due to the improved flue gas cleaning technology, improved burner technology and the change of fuel type used. A considerable...... plants. The emission of PAH increased as a result of the increased combustion of wood in residential boilers and stoves. Uncertainties for the emissions and trends have been estimated....

  5. Danish emission inventories for stationary combustion plants

    DEFF Research Database (Denmark)

    Nielsen, M.; Illerup, J. B.

    Emission inventories for stationary combustion plants are presented and the methodologies and assumptions used for the inventories are described. The pollutants considered are SO2, NOX, NMVOC, CH4, CO, CO2, N2O, particulate matter, heavy metals, dioxins and PAH. Since 1990 the fuel consumption...... in stationary combustion has increased by 14% - the fossil fuel consumption however only by 8%. Despite the increased fuel consumption the emission of several pollutants has decreased due to the improved flue gas cleaning technology, improved burner technology and the change of fuel type used. A considerable...... plants. The emission of PAH increased as a result of the increased combustion of wood in residential boilers and stoves. Uncertainties for the emissions and trends have been estimated...

  6. Relativistic elasticity of stationary fluid branes

    DEFF Research Database (Denmark)

    Armas, J.; Obers, N.A.

    2013-01-01

    Fluid mechanics can be formulated on dynamical surfaces of arbitrary codimension embedded in a background space-time. This has been the main object of study of the blackfold approach in which the emphasis has primarily been on stationary fluid configurations. Motivated by this approach we show...... under certain conditions that a given stationary fluid configuration living on a dynamical surface of vanishing thickness and satisfying locally the first law of thermodynamics will behave like an elastic brane when the surface is subject to small deformations. These results, which are independent...... of the number of space-time dimensions and of the fluid arising from a gravitational dual, reveal the (electro)elastic character of (charged) black branes when considering extrinsic perturbations....

  7. Learning Markov models for stationary system behaviors

    DEFF Research Database (Denmark)

    Chen, Yingke; Mao, Hua; Jaeger, Manfred

    2012-01-01

    to a single long observation sequence, and in these situations existing automatic learning methods cannot be applied. In this paper, we adapt algorithms for learning variable order Markov chains from a single observation sequence of a target system, so that stationary system properties can be verified using......Establishing an accurate model for formal verification of an existing hardware or software system is often a manual process that is both time consuming and resource demanding. In order to ease the model construction phase, methods have recently been proposed for automatically learning accurate...... the learned model. Experiments demonstrate that system properties (formulated as stationary probabilities of LTL formulas) can be reliably identified using the learned model....

  8. Regulation of Indole Signalling during the Transition of E. coli from Exponential to Stationary Phase.

    Directory of Open Access Journals (Sweden)

    Hannah Gaimster

    Full Text Available During the transition from exponential to stationary phase E. coli produces a substantial quantity of the small, aromatic signalling molecule indole. In LB medium the supernatant indole concentration reaches a maximum of 0.5-1 mM. At this concentration indole has been implicated in many processes inducing acid resistance and the modulation of virulence. It has recently been shown that cell-associated indole transiently reaches a very high concentration (approx. 60 mM during stationary phase entry, presumably because indole is being produced more rapidly than it can leave the cell. It is proposed that this indole pulse inhibits growth and cell division, causing the culture to enter stationary phase before nutrients are completely exhausted, with benefits for survival in long-term stationary phase. This study asks how E. coli cells rapidly upregulate indole production during stationary phase entry and why the indole pulse has a duration of only 10-15 min. We find that at the start of the pulse tryptophanase synthesis is triggered by glucose depletion and that this is correlates with the up-regulation of indole synthesis. The magnitude and duration of the resulting indole pulse are dependent upon the availability of exogenous tryptophan. Indole production stops when all the available tryptophan is depleted and the cell-associated indole equilibrates with the supernatant.

  9. Characterization of Stationary Distributions of Reflected Diffusions

    Science.gov (United States)

    2014-01-01

    11 ∗Partially supported by NSF grants CMMI -1052750 (formerly 0928154), CMMI - 1114608 and ARO grant W911NF-12-1-0222 AMS...his PhD thesis [47]. However, the results of [47] do not apply to reflected diffusions in non-smooth domains in RJ . Kurtz and Stockbridge [29, 30...Duarte, M. (2012). Stationary distribution for spinning reflecting diffusions. PhD Thesis , University of Washington, 2012, WA. [16] Dupuis, P. and

  10. Stationary stochastic processes theory and applications

    CERN Document Server

    Lindgren, Georg

    2012-01-01

    Some Probability and Process BackgroundSample space, sample function, and observablesRandom variables and stochastic processesStationary processes and fieldsGaussian processesFour historical landmarksSample Function PropertiesQuadratic mean propertiesSample function continuityDerivatives, tangents, and other characteristicsStochastic integrationAn ergodic resultExercisesSpectral RepresentationsComplex-valued stochastic processesBochner's theorem and the spectral distributionSpectral representation of a stationary processGaussian processesStationary counting processesExercisesLinear Filters - General PropertiesLinear time invariant filtersLinear filters and differential equationsWhite noise in linear systemsLong range dependence, non-integrable spectra, and unstable systemsThe ARMA-familyLinear Filters - Special TopicsThe Hilbert transform and the envelopeThe sampling theoremKarhunen-Loève expansionClassical Ergodic Theory and MixingThe basic ergodic theorem in L2Stationarity and transformationsThe ergodic th...

  11. Natural history of presumed congenital Brown syndrome.

    Science.gov (United States)

    Kaban, T J; Smith, K; Orton, R B; Noel, L P; Clarke, W; Cadera, W

    1993-07-01

    To evaluate the stability of the ocular alignment in patients with presumed congenital Brown syndrome. A retrospective review of patients with Brown syndrome with an emphasis on nonsurgical cases. Follow-up of at least 1 year was required for inclusion in the study. Patients were selected for this study from the pediatric ophthalmology services at the Ivey Institute of Ophthalmology, London, Ontario, and the Children's Hospital of Eastern Ontario, Ottawa. A cohort of 71 patients with presumed congenital Brown syndrome. Two cases were bilateral. Eleven cases were excluded because of insufficient length of follow-up, leaving 60 patients with an average follow-up of 46 months. All patients were assessed and followed up by a pediatric ophthalmologist. Of 38 patients who had no hypotropia in primary position at presentation, only two (5%) patients experienced a worsening with the development of a small vertical strabismus during the follow-up period. Six (10%) of the entire group of 60 patients experienced a complete spontaneous resolution of the deficiency in elevation at 4, 6, 8, 10, 12, and 15 years of age. Among patients with congenital Brown syndrome, those who are orthotropic in the primary position tend to remain stable or improve over time without surgical intervention.

  12. Microgastria: congenital microgastria

    Directory of Open Access Journals (Sweden)

    Nilton Crepaldi Vicente

    Full Text Available The authors report a case of an one-year-old girl with growth retardation, vomiting, aspiration pneumonias and malnutrition presenting gastroesopheal reflux and microgastria. The child was underwent a double lumen Roux-en-Y jejunal reservoir (Hunt-Lawrence pouch. This treatment improved nutritional status and growth. No others anomalies were detected. Congenital microgastria is a rare anomaly which is usually associated with other malformations. The authors reviewed the literature and recommend the gastric augmentation for the treatment for microgastria.

  13. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  14. Congenital Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    Tovar Juan A

    2012-01-01

    Full Text Available Abstract Congenital Diaphragmatic Hernia (CDH is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is

  15. Congenital erythropoietic porphyria

    Directory of Open Access Journals (Sweden)

    Wen-Hao Lee

    2012-06-01

    Full Text Available Congenital erythropoietic porphyria (CEP, or “Günther disease”, is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III synthase (URO-III-synthase, the fourth enzyme in the heme biosynthetic pathway. We herein report a case of a man with the typical clinical presentations of hyper- and hypo-pigmentation and blister formation over sun-exposed areas, mutilation of the fingers, dark-purple urine, and erythrodontia with pinkish fluorescence under a Wood’s lamp. The diagnosis was confirmed by decreased activity of URO-III-synthase in red blood cells (RBC and a porphyrin profile compatible with CEP.

  16. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium...

  17. Surgery for Congenital Cataract

    Directory of Open Access Journals (Sweden)

    David Yorston FRCS FRCOphth

    2004-01-01

    Full Text Available The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  18. Congenital giant melanocytic nevi

    Directory of Open Access Journals (Sweden)

    Shahla Khan

    2009-07-01

    Full Text Available Nevi are common skin tumors caused by abnormal overgrowth of cells from the epidermal and dermal layers of the skin. Most nevi are benign, but some pre-cancerous nevi must be monitored or removed. The giant congenital nevus is greater than 10 cm in size, pigmented and often hairy. Between 4% and 6% of these lesions will develop into a malignant melanoma. Since approximately 50% of the melanoma develop by the age of two, and 80% by the age of seven, early removal is recommended. The objective of this paper is to present a unique case of giant nevi and their surgical management.

  19. Congenital indifference to pain

    Directory of Open Access Journals (Sweden)

    Kapasi A

    1992-01-01

    Full Text Available A 9-month old female infant developed a non-healing deep necrotic ulcer on the tongue in apposition with the central incisors. There was no response to painful stimuli. Investigations revealed normal blood biochemistry, sweat, histamine and capsaicin tests. Nerve conduction studies and light microscopy of sural nerve and skin were normal. The child was diagnosed as a case of congenital indifference to pain and was treated with teeth extraction and plastic repair of the tongue. In next 2 years the child had recurrent ulcers of the tongue leading to fibrosis and shortening of tongue hampering the speech.

  20. Systemic congenital lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    Ligia Maria Suppo de Souza

    Full Text Available Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.

  1. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... Stocker, J.T., Madewell, J.E. and Drake, R.M.. Congenital cystic adenomatoid malformation of the lung: classification and morphologic spectrum. Hum. Pathol. 1977; 8:155-171. 6. Benjamin, D.R. and Cahill, J.L. Bronchioloalveolar carcinoma of the lung and congenital cystic adenomatoid malformation.

  2. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... and related health problems. Common Heart Defects Common types of congenital heart defects, which can affect any part of the heart ... circulation. Echocardiograms are the primary tool for diagnosing congenital ... is a specialized type of ultrasound that allows diagnosis of heart problems ...

  3. Congenital Syphilis Masquerading as Leukemia.

    Science.gov (United States)

    Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

    2017-07-01

    As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

  4. congenital epulis in a newborn

    African Journals Online (AJOL)

    GB

    BACKGROUND: Congenital epulis is a rare lesion of the newborn, presenting as mass in the oral cavity which can interfere with respiration and feeding. It should be distinguished from other lesions which can occur in newborns, both clinically and histopathologically. CASE DETAILS: Here, we report a case of congenital ...

  5. Placental histopathology of congenital syphilis.

    Science.gov (United States)

    Sheffield, Jeanne S; Sánchez, Pablo J; Wendel, George D; Fong, David W I; Margraf, Linda R; Zeray, Fiker; McIntire, Donald D; Barton Rogers, Beverly

    2002-07-01

    To evaluate the contribution of placental histopathology to the diagnosis of congenital syphilis. From January 1, 1986, through December 31, 1998, all pregnant women presenting to a large, urban Dallas County labor and delivery unit with untreated syphilis at delivery and who had placental evaluation performed were identified. Women were clinically staged, and the infants were evaluated for congenital syphilis using a standard protocol. Each placenta was evaluated by two independent pathologists. Histologic characteristics of the placenta related to congenital syphilis in live-born and stillborn infants were then analyzed. Sixty-seven women met the study criteria: 33 (49%) stillborn and 18 (27%) live-born infants with congenital syphilis, 15 (22%) uninfected live-born infants, and one uninfected stillborn fetus diagnosed by current criteria. There were no differences between the groups with regard to demographic characteristics, prenatal care, or stage of syphilis. Stillborn infants were more likely to deliver preterm (P gestational age, histopathology revealed necrotizing funisitis, villous enlargement, and acute villitis associated with congenital syphilis. Erythroblastosis was more common in stillborn infants with congenital syphilis than all live-born infants (odds ratio 16, 95% confidence interval 1, 370). The addition of histologic evaluation to conventional diagnostic evaluations improved the detection rate for congenital syphilis from 67% to 89% in live-born infants, and 91% to 97% in stillborn infants. Our results show that histopathologic examination of the placenta is a valuable adjunct to the contemporary diagnostic criteria used to diagnose congenital syphilis.

  6. Open resections for congenital lung malformations

    Directory of Open Access Journals (Sweden)

    Mullassery Dhanya

    2008-01-01

    Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

  7. Congenital infantile fibrosarcoma: review of imaging features.

    Science.gov (United States)

    Ainsworth, Kelly E; Chavhan, Govind B; Gupta, Abha A; Hopyan, Sevan; Taylor, Glenn

    2014-09-01

    Fibrosarcoma is a rare tumor in children with limited information on imaging features of these tumors in the literature. To retrospectively review the imaging features of histologically proven congenital infantile fibrosarcoma. The list of histologically confirmed congenital infantile fibrosarcomas between November 1999 and June 2013 was obtained from the oncology-pathology database. Imaging features and pathology reports of these tumors were reviewed. Patient charts were reviewed and clinical features, management and outcomes were recorded. During the study period, 13 children (9 girls and 4 boys; age range: 0 day-16 months, median age: 2.5 months) with congenital infantile fibrosarcomas were available for complete radiological review. The translocation (t[12;15]) was present in 11/13 (84.6%) and absent in 2/13. Eight/thirteen (61.5%) tumors were located in extremities (5 in lower and 3 in upper), 3/13 in thoracolumbar paraspinal regions, and one each in abdomen and sternocleidomastoid muscle. Imaging features included iso- to hyperintensity on T1-W, hyperintensity on T2-W as compared to skeletal muscles and heterogeneous enhancement. Six (37.5%) tumors showed hemorrhagic components and 2 (15.4%) showed low intensity foci. None of the patients had evidence of regional or distant metastases at diagnosis. Management included surgical resection only (1/13) and combined surgery and chemotherapy (10/13). Overall survival was 100% with a median follow-up of 49.3 months. Congenital infantile fibrosarcoma has nonspecific imaging characteristics but should be high on the differential diagnosis in a soft-tissue tumor presenting in infancy, located in an extremity and showing tumoral hemorrhage. Patients have a favorable outcome.

  8. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  9. Intonation Processing in Congenital Amusia: Discrimination, Identification and Imitation

    Science.gov (United States)

    Liu, Fang; Patel, Aniruddh D.; Fourcin, Adrian; Stewart, Lauren

    2010-01-01

    This study investigated whether congenital amusia, a neuro-developmental disorder of musical perception, also has implications for speech intonation processing. In total, 16 British amusics and 16 matched controls completed five intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance…

  10. Complicated Congenital Dislocation of the Knee: A Case Report

    Directory of Open Access Journals (Sweden)

    Firooz Madadi

    2016-10-01

    Radiologic investigation revealed bilateral knee joint dislocation accompanied by severe anterior bowing of both tibia proximally and posterior bowing of both femur distally, demonstrating a complicated congenital knee dislocation. Two-staged open reduction with proximal tibial osteotomy was performed to align the reduced knee joints. The patient was completely independent in her daily activities after surgical correction.

  11. Predictors of pregnancy complications in women with congenital heart disease

    NARCIS (Netherlands)

    W. Drenthen (Willem); H. Boersma (Eric); A. Balci (Ali); P. Moons (Philip); J.W. Roos-Hesselink (Jolien); B.J.M. Mulder (Barbara); H.W. Vliegen (Hubert); A.P.J. van Dijk (Arie); A.A. Voors (Adriaan); S-C. Yap (Sing-Chien); D.J. van Veldhuisen (Dirk); P.G. Pieper (Petronella)

    2010-01-01

    textabstractAims:Data regarding pregnancy outcome in women with congenital heart disease (CHD) are limited.Methods and results: In 1802 women with CHD, 1302 completed pregnancies were observed. Independent predictors of cardiac, obstetric, and neonatal complications were calculated using logistic

  12. Congenital Tracheal Stenosis in a Patient with Cleft Lip

    African Journals Online (AJOL)

    Congenital tracheal stenosis (CTS) is a rare condition characterised by different patterns of tracheal narrowing. The pathological hallmark is the presence of complete tracheal rings, with or without associated anomalies. We present a case of asymptomatic CTS in a patient with unilateral cleft lip. Tracheal stenosis was.

  13. Congenital Hairy Polyp of the Nasopharynx

    Directory of Open Access Journals (Sweden)

    Medine Kara

    2014-06-01

    Full Text Available This study presents a rare congenital nasopharynx lesion in an infant with feeding difficulties and respiratory distress. A two-month old girl with wheezing and difficulty feeding had a pedicular polypoid mass hanging from the nasopharynx posterior to the tongue completely removed. Histopathological investigation of the lesion reported a hairy polyp. Patients with complaints of respiratory distress and feeding difficulties in the early newborn period should be considered for a diagnosis of hairy polyp and diagnosis should include endoscopic examination.

  14. Complicated Congenital Dislocation of the Knee: A Case Report.

    Science.gov (United States)

    Madadi, Firooz; Tahririan, Mohammad A; Karami, Mohsen; Madadi, Firoozeh

    2016-10-01

    Congenital dislocation of the knee (CDK) is a rare disorder. We report the case of a 7-year-old girl with bilateral knee stiffness, marked anterior bowing of both legs, and inability to walk without aid. Radiologic investigation revealed bilateral knee joint dislocation accompanied by severe anterior bowing of both tibia proximally and posterior bowing of both femur distally, demonstrating a complicated congenital knee dislocation. Two-staged open reduction with proximal tibial osteotomy was performed to align the reduced knee joints. The patient was completely independent in her daily activities after surgical correction.

  15. Comprehensive Treatments for Congenitally Missing Teeth and Generalized Diastema

    Directory of Open Access Journals (Sweden)

    Mehran Bahrami

    2017-01-01

    Full Text Available Congenitally missing teeth and/or hypodontia is a prevalent dental anomaly. There are different treatment options available for these conditions such as space maintenance, restoring the space by resin-bonded-fixed-partial-dentures (RBFPDs, and dental implants. This study addresses the comprehensive treatments for congenitally missing tooth and diastema using interdisciplinary approaches. One patient was treated with small-diameter-implants and the other one was treated using an intraoral scanner to make digital impression and fabricating RBFPDs with CAD/CAM system. Both patients were completely satisfied.

  16. Stationary Black Holes: Uniqueness and Beyond

    Directory of Open Access Journals (Sweden)

    Piotr T. Chruściel

    2012-05-01

    Full Text Available The spectrum of known black-hole solutions to the stationary Einstein equations has been steadily increasing, sometimes in unexpected ways. In particular, it has turned out that not all black-hole-equilibrium configurations are characterized by their mass, angular momentum and global charges. Moreover, the high degree of symmetry displayed by vacuum and electro vacuum black-hole spacetimes ceases to exist in self-gravitating non-linear field theories. This text aims to review some developments in the subject and to discuss them in light of the uniqueness theorem for the Einstein-Maxwell system.

  17. Stationary Black Holes: Uniqueness and Beyond

    Directory of Open Access Journals (Sweden)

    Heusler Markus

    1998-01-01

    Full Text Available The spectrum of known black hole solutions to the stationary Einstein equations has increased in an unexpected way during the last decade. In particular, it has turned out that not all black hole equilibrium configurations are characterized by their mass, angular momentum and global charges. Moreover, the high degree of symmetry displayed by vacuum and electro-vacuum black hole space-times ceases to exist in self-gravitating non-linear field theories. This text aims to review some of the recent developments and to discuss them in the light of the uniqueness theorem for the Einstein-Maxwell system.

  18. IMPROVING STATIONARY TOOLS FOR HYDRAULIC UNIT DIAGNOSTICS

    Directory of Open Access Journals (Sweden)

    I. Pimonov

    2015-12-01

    Full Text Available An important problem of increasing the efficiency of building machinery due to timely determination of hudrounits technical state at mechanization centers is considered in the given article. Quality indicators of hydraulic actuator operation on the basis of the established connection between the structural and diagnostic parameters of hydrounits are considered. The quantitative connection between the standard and the developed system of hydrounits technical state standards determination is established. Application of this method will significantly simplify diagnosing the elements of a hydraulic actuator at mechanization centers under stationary conditions.

  19. Thermoelectric Generator for a Stationary Diesel Plant

    Science.gov (United States)

    Anatychuk, L. I.; Rozver, Yu. Yu.; Velichuk, D. D.

    2011-05-01

    This paper describes the development and testing of a thermoelectric generator (TEG) using the exhaust heat of a 50-kW stationary diesel power plant. The generator consists of six units that represent primary generators for each diesel engine cylinder. Each primary generator comprises five sections with gas heat exchangers, thermoelectric modules, and liquid heat exchangers. The sections were optimized for the exhaust gas operating temperatures. The generator electric power was 2.1 kW at rated power of 2.2 kW, corresponding to 4.4% of the diesel plant electric power.

  20. Stationary stochastic processes for scientists and engineers

    CERN Document Server

    Lindgren, Georg; Sandsten, Maria

    2013-01-01

    ""This book is designed for a first course in stationary stochastic processes in science and engineering and does a very good job in introducing many concepts and ideas to students in these fields. … the book has probably been tested in the classroom many times, which also manifests itself in its virtual lack of typos. … Another great feature of the book is that it contains a wealth of worked example from many different fields. These help clarify concepts and theorems and I believe students will appreciate them-I certainly did. … The book is well suited for a one-semester course as it contains

  1. [Congenital syphilis: a case report].

    Science.gov (United States)

    Lasfargue, M; Thümmler, S; Perelman, S; de Ricaud, D

    2009-10-01

    Syphilis is a re-emerging infectious disease in Western Europe. Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. This disease is easily curable by a simple antibiotic treatment. Because of systematic antenatal screening it should no longer exist in industrialized countries. Nevertheless, we report a case of a six-week-old infant with a delayed diagnosis of congenital syphilis. Physicians, especially gynaecologists, obstetricians and paediatricians, have to be vigilant in order to allow for early diagnosis and appropriate treatment of congenital syphilis.

  2. Activity of Sulfa Drugs and Their Combinations against Stationary Phase B. burgdorferi In Vitro.

    Science.gov (United States)

    Feng, Jie; Zhang, Shuo; Shi, Wanliang; Zhang, Ying

    2017-03-22

    + doxycycline used as a positive control which completely eradicated B. burgdorferi stationary phase cells. Future studies are needed to evaluate and optimize the sulfa drug combinations in vitro and also in animal models.

  3. Activity of Sulfa Drugs and Their Combinations against Stationary Phase B. burgdorferi In Vitro

    Directory of Open Access Journals (Sweden)

    Jie Feng

    2017-03-01

    Daptomycin + cefuroxime + doxycycline used as a positive control which completely eradicated B. burgdorferi stationary phase cells. Future studies are needed to evaluate and optimize the sulfa drug combinations in vitro and also in animal models.

  4. Clinical and socioeconomic determinants of congenital syphilis in Posadas, Argentina.

    Science.gov (United States)

    Parker, Lucy Anne; Deschutter, Enrique Jorge; Bornay-Llinares, Fernando Jorge; Hernandez-Aguado, Ildefonso; Silva, Gustavo; Piragine, Rosa Del Carmen; Lumbreras, Blanca

    2012-04-01

    To explore clinical and socioeconomic factors related to congenital syphilis in Posadas, Argentina. Data were collected from 102 mothers who had given birth to an infant with congenital syphilis at Dr. Ramón Madariaga Central Hospital (2005-2007) and 306 control mothers. Clinical and demographic information were collected from clinical records, and socioeconomic details were obtained by interview. Multivariable logistic regression was used to explore the relationships between congenital syphilis and clinical and socioeconomic factors. Receiving the recommended number of prenatal health checks had a clear protective effect on congenital syphilis in the univariate analysis (odds ratio (OR) 0.52, 95% confidence interval (CI) 0.31-0.86), as did being in a stable relationship (OR 0.23, 95% CI 0.14-0.38). Furthermore, women with secondary education or above were over four-times less likely to have a child with congenital syphilis compared to women who had not completed primary school education, even after controlling for the number of prenatal health checks and other factors (adjusted OR 0.24, 95% CI 0.08-0.72). In addition, women with previous stillborn births were over three-times more likely to have a baby with congenital syphilis after controlling for education and prenatal care (adjusted OR 3.37, 95% CI 1.24-9.16). There is a clear opportunity for reducing the burden of congenital syphilis by promoting syphilis screening and treatment in women with previous stillborn births. In addition, the potential impact of more general policies addressing social determinants of health, such as those improving education, must not be overlooked. Copyright © 2012 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  5. Long QT in children with congenital deafness: a brief report

    Directory of Open Access Journals (Sweden)

    Naseraldin Akbari Asbagh

    2013-08-01

    Full Text Available Background: Long QT syndromes (LQT are genetic abnormalities of ventricular repo-larization, with an estimated incidence of about one per 10000 births. It is characterized by prolongation of the QT interval in electrocardiogram (EKG and associated with a high risk for syncope and sudden death in patients. Type of this syndrome is association with congenital deafness. Our objective was to evaluate QT interval in children with congenital deafness.Methods: For 219 patients referred to Imam Khomeini Hospital audiometric clinic in 2011, questionnaire were completed. A total of 23 congenitally deaf children were incl-uded. All patients’ examinations were done by a pediatric cardiologist. Electrocardio-gram is conducted in all children (23 patients with sever and deep congenital deafness. Then the QT interval was measured based on Bazett’s formula. Echocardiography was also performed in these children to assess left ventricular function and the presence of mitral valve prolapse.Results: The overall patients were two hundred and nineteen children. A total of twenty three congenitally deaf children were included and electrocardiogram was obtained. Three children had obviously prolonged QTc (0.48±0.02 second. The median age of them was 6.1±5 year, the median weight was 18±11.3 kilogram and the median of QT interval was 0.48±0.02 second.Conclusion: The QT interval obtained 0.48±0.02 second. In the present study we found prolonged QT in congenital deafness, thus we recommend to evaluate the electrocardio-gram of children with congenital deafness.

  6. Congenital hypothyroidism: Screening dilemma.

    Science.gov (United States)

    Desai, Meena P

    2012-12-01

    Primary sporadic congenital hypothyroidism (CH) is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH) are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS) for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  7. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  8. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    % versus 44% required unplanned additional surgery, respectively. Complications were noted in 25% and 67% of the patients, respectively. Cosmetic result was satisfying in 76% of patients without difference between the groups. No malignant transformation was found during a mean follow-up of 11 years......Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications......, and malignant transformation. Of 35 patients, 25 underwent surgery. Curettage was most frequently used (64%) followed by excision and tissue expansion (20%). Six percent of the patients treated with curettage, and 78% of the patients who received excision surgery required more than 1 planned procedure, and 25...

  9. Congenital fibular deficiency.

    Science.gov (United States)

    Hamdy, Reggie C; Makhdom, Asim M; Saran, Neil; Birch, John

    2014-04-01

    Congenital fibular deficiency (CFD) is characterized by a wide spectrum of manifestations ranging from mild limb length inequality (LLI) to severe shortening, with foot and ankle deformities and associated anomalies. The etiology of CFD remains unclear. Treatment goals are to achieve normal weight bearing, a functional plantigrade foot, and equal limb length. The recent Birch classification system has been proposed to provide a treatment guide: the functionality of the foot, LLI, and associated anomalies should be taken into account for decision-making. Treatment options include orthosis or epiphysiodesis, Syme or Boyd amputation and prosthetic rehabilitation, limb lengthening procedures, and foot and ankle reconstruction. The outcome of amputation for severe forms of CFD has shown favorable results and fewer complications compared with those of limb lengthening. Nevertheless, advances in the limb lengthening techniques may change our approach to treating patients with CFD and might extend the indications for reconstructive procedures to the treatment of severe LLI and foot deformities.

  10. [Congenital cervical spondylolisthesis].

    Science.gov (United States)

    Raichel, Michael; Lumelsky, Dmitry; Tanzman, Michael; Shtern, Avinoam; Kaufman, Basil

    2003-12-01

    Cervical spondylolysis with spondylolisthesis is a complex abnormality involving the posterior elements of the cervical vertebra, and anterolisthesis of the same vertebra. Cervical spondylolysis is defined as a corticated cleft between the superior and inferior articular facets of the articular "pillar", the cervical equivalent of the pars intraarticularis in the lumbar spine. The typical radiological features of this condition are as follows: 1. Spondylolysis (a break in the "pillar" on one or both sides) 2. Spina bifida of dysplastic vertebra 3. Affection of posterior intervertebral joints (abnormal inclination of the superior and inferior articular facets of the affected bones may present) Recognition of this congenital disorder and its differentiation from traumatic injury is extremely important in patients who have a history of recent cervical trauma.

  11. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. [Gestational and congenital toxoplasmosis: a practical approach to disease notification].

    Science.gov (United States)

    Capobiango, Jaqueline Dario; Breganó, Regina Mitsuka; Mori, Fabiana Maria Ruiz Lopes; Navarro, Italmar Teodorico; Campos, Josemari Sawczuk de Arruda; Tatakihara, Linda Tsuiko; Talizin, Thalita Bento; Santos, Monica Dos; Pereira, Tayná Rolim Galvão; Narciso, Simone Garani; Reiche, Edna Maria Vissoci

    2016-01-01

    to demonstrate the experience of implanting toxoplasmosis notification during pregnancy and congenital toxoplasmosis in a Sentinel Unit (SU) and describe reported cases. this was a descriptive study of the implantation of a notification protocol using a specific notification form for suspected cases of toxoplasmosis in pregnant women and congenital toxoplasmosis in a reference center in Paraná State, Brazil, from August 2013 to August 2014. all 64 suspected cases were notified and case investigation was completed by the SU Epidemiology Sector; 63 received prenatal care and 51 received treatment during pregnancy; 7 of the children being clinically monitored had confirmed diagnosis of congenital toxoplasmosis. implanting toxoplasmosis notification afforded epidemiological, clinical and diagnostic data on the disease that contributed to the assessment of the clinical evolution of children exposed to Toxoplasma gondii.

  13. Completely continuous and weakly completely continuous abstract ...

    Indian Academy of Sciences (India)

    if the operator ρa of right multiplication by a is compact (weakly compact, respectively). An algebra A is called right completely continuous (right weakly completely continuous) if any element a ∈ A is right completely continuous (right weakly completely con- tinuous, respectively). Left completely continuous (left weakly ...

  14. Endothelial function state following repair of cyanotic congenital heart diseases.

    Science.gov (United States)

    Sabri, Mohammad Reza; Daryoushi, Hooman; Gharipour, Mojgan

    2015-02-01

    Repairing cyanotic congenital heart disease may be associated with preserving endothelial function. The present study aimed to evaluate vascular endothelial function in patients with repaired cyanotic congenital heart disease. In a case-control study conducted in 2012 in Isfahan, Iran, 42 consecutive patients aged types of cyanotic congenital heart disease and had undergone complete repair of their congenital heart defect were assessed in regard to their endothelial function state by measuring flow-mediated dilatation and other cardiac function indices. They were paired with 42 sex- and age-matched healthy controls. The mean flow-mediated dilatation was lower in patients with repaired cyanotic congenital heart disease than in the controls [6.14±2.78 versus 8.16±1.49 respectively (pcongenital heart disease that was repaired after 2.5 years of age (mean age at repair 9±6.1 years). Early repair of a cyanotic defect can result in the protection of vascular endothelial function and prevent the occurrence of vascular accidents at an older age.

  15. First 25 years of the Hungarian congenital abnormality registry.

    Science.gov (United States)

    Czeizel, A E

    1997-05-01

    The Hungarian Congenital Abnormality Registry was established in 1962 based on obligatory notification of cases with congenital abnormalities by physicians. However, continuous and expert evaluation of data started in 1970 when the Registry was moved to the National Institute of Public Health. Later several other systems, including the Nationwide Evaluation of Multimalformed Infants, Case-Control Surveillance of Congenital Abnormalities, and Surveillance of Germinal Mutations, were based on the Registry. Data and results of the first 25 years of the Registry are evaluated from three different aspects: 1) evaluation of the originally planned and later adopted missions of the Registry; 2) quality control of the Registry is based on the proportion of misdiagnoses, completeness of notifications, and pathogenetically oriented classification; 3) outcome evaluation indicated the different quality of recorded data in lethal, severe, and mild congenital abnormalities. The data base of the Registry was appropriate to estimate the proportion of preventable congenital abnormalities due to the four different preventive programs and to evaluate the pregnancy outcomes after the Chernobyl nuclear power plant accident.

  16. Congenital pseudarthrosis of the clavicle

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, Guido [Texas Scottish Rite Hospital for Children, Department of Radiology, Dallas, TX (United States); Herring, John A. [Texas Scottish Rite Hospital for Children, Department of Orthopedic Surgery, Dallas, TX (United States)

    2009-12-15

    Congenital pseudarthrosis is an uncommon anomaly poorly referred to in the pediatric literature. To describe congenital pseudarthrosis in children. We discuss the presentation, clinical symptomatology, and treatment. We reviewed the records of four children with congenital pseudarthrosis from 1990 to 2009 at the radiology department of Texas Scottish Rite Hospital for Children. Four girls ages 4 through 14 were identified. Three children presented with a bulge in the mid-clavicle as a chief complaint. The fourth child (14 years old) had bluish discoloration of the right upper extremity with venous distention. Three of the four did not have other abnormalities, while the 14-year-old had exostosis on the left hand. The mid-portion of the right clavicle was involved in all four children. Three of the four were treated surgically. Congenital pseudarthrosis of the clavicle is an uncommon anomaly found mostly in girls and in the mid-right clavicle. (orig.)

  17. Maternal and congenital syphilis in Shanghai, China, 2002 to 2006.

    Science.gov (United States)

    Zhu, Liping; Qin, Min; Du, Li; Xie, Ri-hua; Wong, Tom; Wen, Shi Wu

    2010-09-01

    To assess the trends and determinants of maternal and congenital syphilis in Shanghai, China. We conducted a prospective cohort study of maternal and congenital syphilis from 2002 to 2006 in Shanghai, China. We presented the trends of maternal syphilis and congenital syphilis rates and compared outcomes in infants born to mothers with complete versus incomplete treatment for maternal syphilis. We also assessed the determinants of compliance to treatment of maternal syphilis and examined the associations of initial maternal RPR antibody level and gestational age at initiation of treatment with occurrence of congenital syphilis. A total of 535 537 pregnant women were included in the analysis. During this period of time, 1471 maternal syphilis cases (298.7 per 100 000 live births) and 334 congenital syphilis cases (62.4 per 100 000 live births) were identified. Both maternal and congenital syphilis rates increased from 2002 until 2005, with a slight decrease in 2006. The rate of maternal syphilis was 156.2 per 100 000 live births in Shanghai residents and 371.7 per 100 000 live births in the migrating population (psyphilis was poorer in women with a lower level of education. The rate of congenital syphilis in infants born to mothers with incomplete treatment (50.8%) was much higher than in infants born to mothers with complete treatment (12.5%). Rates of fetal death, neonatal death, and major birth defects were 30.4%, 11.0%, and 3.8%, respectively, in the incomplete treatment group; the corresponding figures were 5.5%, 0.56%, and 0.46%, respectively, in the complete treatment group. Infant outcome was also affected by initial maternal RPR antibody level and time of treatment, with much better outcomes in mothers with low antibody levels and earlier treatment. There has been a resurgence of congenital syphilis in Shanghai, China, especially in the migrating population and other populations with a lower socioeconomic status. Copyright © 2010 International Society

  18. Occult etiologies of complete atrioventricular block: Report of two cases

    Directory of Open Access Journals (Sweden)

    Neeta Bachani

    2016-09-01

    Full Text Available In patients presenting with complete atrioventricular (AV block, the common causes are degeneration of the conduction system, acute myocardial infarction, congenital and metabolic disorders (such as azotemia. However, at times, no cause can be ascribed and the label congenital or degenerative is applied depending on the patient's age and the QRS complex width. We present two cases of patients with complete AV block, who were subsequently found to have rare etiologies – sarcoidosis (with isolated feature of AV block and non-Hodgkin's lymphoma.

  19. Report of a complete second branchial fistula.

    LENUS (Irish Health Repository)

    Khan, Mohammad Habibullah

    2010-08-01

    We report a case of complete congenital branchial fistula with an internal opening near the tonsillar fossa. Cysts, fistulas, and sinuses of the second branchial cleft are the most common developmental anomalies arising from the branchial apparatus. In our case, a 43-year-old man presented with a several-year history of a discharging sinus from the right side of his neck, consistent with a branchial fistula. He underwent various investigations and finally was treated with a one-stage complete surgical excision of the fistula tract. We describe the general clinical presentation, investigations, and surgical outcome of this case.

  20. Initial validation of a healthcare needs scale for young people with congenital heart disease.

    Science.gov (United States)

    Chen, Chi-Wen; Ho, Ciao-Lin; Su, Wen-Jen; Wang, Jou-Kou; Chung, Hung-Tao; Lee, Pi-Chang; Lu, Chun-Wei; Hwang, Be-Tau

    2018-01-01

    To validate the initial psychometric properties of a Healthcare Needs Scale for Youth with Congenital Heart Disease. As the number of patients with congenital heart disease surviving to adulthood increases, the transitional healthcare needs for adolescents and young adults with congenital heart disease require investigation. However, few tools comprehensively identify the healthcare needs of youth with congenital heart disease. A cross-sectional study was employed to examine the psychometric properties of the Healthcare Needs Scale for Youth with Congenital Heart Disease. The sample consisted of 500 patients with congenital heart disease, aged 15-24 years, from paediatric cardiology departments and covered the period from March-August 2015. The patients completed the 25-item Healthcare Needs Scale for Youth with Congenital Heart Disease, the questionnaire on health needs for adolescents and the WHO Quality of Life-BREF. Reliability and construct, concurrent, predictive and known-group validity were examined. The Healthcare Needs Scale for Youth with Congenital Heart Disease includes three dimensions, namely health management, health policy and individual and interpersonal relationships, which consist of 25 items. It demonstrated excellent internal consistency and sound construct, concurrent, predictive and known-group validity. The Healthcare Needs Scale for Youth with Congenital Heart Disease is a psychometrically robust measure of the healthcare needs of youth with congenital heart disease. It has the potential to provide nurses with a means to assess and identify the concerns of youth with congenital heart disease and to help them achieve a successful transition to adult care. © 2017 John Wiley & Sons Ltd.

  1. Generalization of Carey's equality and a theorem on stationary population.

    Science.gov (United States)

    Srinivasa Rao, Arni S R; Carey, James R

    2015-09-01

    Carey's Equality pertaining to stationary models is well known. In this paper, we have stated and proved a fundamental theorem related to the formation of this Equality. This theorem will provide an in-depth understanding of the role of each captive subject, and their corresponding follow-up duration in a stationary population. We have demonstrated a numerical example of a captive cohort and the survival pattern of medfly populations. These results can be adopted to understand age-structure and aging process in stationary and non-stationary population models.

  2. Flood frequency analysis of historical flood data under stationary and non-stationary modelling

    Science.gov (United States)

    Machado, M. J.; Botero, B. A.; López, J.; Francés, F.; Díez-Herrero, A.; Benito, G.

    2015-06-01

    Historical records are an important source of information on extreme and rare floods and fundamental to establish a reliable flood return frequency. The use of long historical records for flood frequency analysis brings in the question of flood stationarity, since climatic and land-use conditions can affect the relevance of past flooding as a predictor of future flooding. In this paper, a detailed 400 yr flood record from the Tagus River in Aranjuez (central Spain) was analysed under stationary and non-stationary flood frequency approaches, to assess their contribution within hazard studies. Historical flood records in Aranjuez were obtained from documents (Proceedings of the City Council, diaries, chronicles, memoirs, etc.), epigraphic marks, and indirect historical sources and reports. The water levels associated with different floods (derived from descriptions or epigraphic marks) were computed into discharge values using a one-dimensional hydraulic model. Secular variations in flood magnitude and frequency, found to respond to climate and environmental drivers, showed a good correlation between high values of historical flood discharges and a negative mode of the North Atlantic Oscillation (NAO) index. Over the systematic gauge record (1913-2008), an abrupt change on flood magnitude was produced in 1957 due to constructions of three major reservoirs in the Tagus headwaters (Bolarque, Entrepeñas and Buendia) controlling 80% of the watershed surface draining to Aranjuez. Two different models were used for the flood frequency analysis: (a) a stationary model estimating statistical distributions incorporating imprecise and categorical data based on maximum likelihood estimators, and (b) a time-varying model based on "generalized additive models for location, scale and shape" (GAMLSS) modelling, which incorporates external covariates related to climate variability (NAO index) and catchment hydrology factors (in this paper a reservoir index; RI). Flood frequency

  3. Danish emission inventories for stationary combustion plants

    DEFF Research Database (Denmark)

    Nielsen, Malene; Nielsen, Ole-Kenneth; Plejdrup, Marlene Schmidt

    Emission inventories for stationary combustion plants are presented and the methodologies and assumptions used for the inventories are described. The pollutants considered are SO2, NOx, NMVOC, CH4, CO, CO2, N2O, particulate matter, heavy metals, dioxins, HCB and PAH. The CO2 emission in 2007 was 10...... incineration plants. The combustion of wood in residential plants has increased considerably in recent years resulting in increased emission of PAH, particulate matter and CO. The emission of NMVOC has increased since 1990 as a result of both the increased combustion of wood in residential plants...... and the increased emission from lean-burn gas engines. The dioxin emission decreased since 1990 due to flue gas cleaning on waste incineration plants. However in recent years the emission has increased as a result of the increased combustion of wood in residential plants....

  4. Danish emission inventories for stationary combustion plants

    DEFF Research Database (Denmark)

    Nielsen, Malene; Nielsen, Ole-Kenneth; Plejdrup, Marlene Schmidt

    Emission inventories for stationary combustion plants are presented and the methodologies and assumptions used for the inventories are described. The pollutants considered are SO2, NOx, NMVOC, CH4, CO, CO2, N2O, NH3, particulate matter, heavy metals, dioxins, HCB and PAH. The CO2 emission in 2008...... incineration plants. The combustion of wood in residential plants has increased considerably in recent years resulting in increased emission of PAH, particulate matter and CO. The emission of NMVOC has increased since 1990 as a result of both the increased combustion of wood in residential plants...... and the increased emission from lean-burn gas engines. The dioxin emission decreased since 1990 due to flue gas cleaning on waste incineration plants. However in recent years the emission has increased as a result of the increased combustion of wood in residential plants....

  5. Danish emission inventories for stationary combustion plants

    DEFF Research Database (Denmark)

    Nielsen, Malene; Nielsen, Ole-Kenneth; Plejdrup, Marlene Schmidt

    Emission inventories for stationary combustion plants are presented and the methodologies and assumptions used for the inventories are described. The pollutants considered are SO2, NOx, NMVOC, CH4, CO, CO2, N2O, NH3, particulate matter, heavy metals, PCDD/F, HCB and PAH. The CO2 emission in 2011...... of decreased emissions from large power plants and waste incineration plants. The combustion of wood in residential plants has increased considerably until 2007 resulting in increased emission of PAH and particulate matter. The emission of NMVOC has increased since 1990 as a result of both the increased...... combustion of wood in residential plants and the increased emission from lean-burn gas engines. The PCDD/F emission decreased since 1990 due to flue gas cleaning on waste incineration plants....

  6. Extremes of Order Statistics of Stationary Processes

    OpenAIRE

    Debicki, Krzysztof; Hashorva, Enkelejd; Ji, Lanpeng; Ling, Chengxiu

    2014-01-01

    Let $\\{X_i(t),t\\ge0\\}, 1\\le i\\le n$ be independent copies of a stationary process $\\{X(t), t\\ge0\\}$. For given positive constants $u,T$, define the set of $r$th conjunctions $ C_{r,T,u}:= \\{t\\in [0,T]: X_{r:n}(t) > u\\}$ with $X_{r:n}(t)$ the $r$th largest order statistics of $X_1(t), \\ldots , X_n(t), t\\ge 0$. In numerous applications such as brain mapping and digital communication systems, of interest is the approximation of the probability that the set of conjunctions $C_{r,T,u}$ is not empt...

  7. Stationary phases for superheated water chromatography

    CERN Document Server

    Saha, S

    2002-01-01

    This project focused on the comparison of conventional liquid chromatography and superheated water chromatography. It examined the differences in efficiency and retention of a range of different stationary phases. Alkyl aryl ketones and eight aromatic compounds were separated on PBD-zirconia, Xterra RP 18, Luna C sub 1 sub 8 (2) and Oasis HLB columns using conventional LC and superheated water chromatography system. The retention indices were determined in the different eluents. On changing the organic component of the eluent from methanol to acetonitrile to superheated water considerable improvements were found in the peak shapes and column efficiencies on the PBD-zirconia and Oasis HLB columns. PS-DVB, PBD-zirconia and Xterra RP 18 columns have been used in efficiency studies. It was found that simply elevating the column temperature did not increase the efficiency of a separation in superheated water chromatography. The efficiency depended on flow rate, injection volume and also mobile phase preheating sys...

  8. Effective Complexity of Stationary Process Realizations

    Directory of Open Access Journals (Sweden)

    Arleta Szkoła

    2011-06-01

    Full Text Available The concept of effective complexity of an object as the minimal description length of its regularities has been initiated by Gell-Mann and Lloyd. The regularities are modeled by means of ensembles, which is the probability distributions on finite binary strings. In our previous paper [1] we propose a definition of effective complexity in precise terms of algorithmic information theory. Here we investigate the effective complexity of binary strings generated by stationary, in general not computable, processes. We show that under not too strong conditions long typical process realizations are effectively simple. Our results become most transparent in the context of coarse effective complexity which is a modification of the original notion of effective complexity that needs less parameters in its definition. A similar modification of the related concept of sophistication has been suggested by Antunes and Fortnow.

  9. Stationary turbine component with laminated skin

    Science.gov (United States)

    James, Allister W [Orlando, FL

    2012-08-14

    A stationary turbine engine component, such as a turbine vane, includes a internal spar and an external skin. The internal spar is made of a plurality of spar laminates, and the external skin is made of a plurality of skin laminates. The plurality of skin laminates interlockingly engage the plurality of spar laminates such that the external skin is located and held in place. This arrangement allows alternative high temperature materials to be used on turbine engine components in areas where their properties are needed without having to make the entire component out of such material. Thus, the manufacturing difficulties associated with making an entire component of such a material and the attendant high costs are avoided. The skin laminates can be made of advanced generation single crystal superalloys, intermetallics and refractory alloys.

  10. Quantum teleportation between stationary macroscopic objects

    Energy Technology Data Exchange (ETDEWEB)

    Bao, Xiao-Hui; Yuan, Zhen-Sheng; Pan, Jian-Wei [Physikalisches Institut, Universitaet Heidelberg (Germany); Hefei National Laboratory for Physical Sciences at Microscale, Department of Modern Physics, University of Science and Technology of China, Hefei (China); Xu, Xiao-Fan [Physikalisches Institut, Universitaet Heidelberg (Germany); Li, Che-Ming [Physikalisches Institut, Universitaet Heidelberg (Germany); Department of Physics, National Center for Theoretical Sciences, National Cheng Kung University, Tainan (China)

    2010-07-01

    Quantum teleportation is a process to transfer a quantum state of an object without transferring the state carrier itself. So far, most of the teleportation experiments realized are within the photonic regime. For the teleportation of stationary states, the largest system reported is a single ion. We are now performing an experiment to teleport the state of an macroscopic atomic cloud which consists about 10{sup 6} single atoms. In our experiment two atomic ensembles are utilized. In the first ensemble A we prepare the collective atomic state to be teleported using the quantum feedback technique. The second ensemble B is utilized to generate entanglement between it collective state with a scattered single-photon. Teleportation is realized by converting the atomic state of A to a single-photon and making a Bell state measurement with the scattered single-photon from ensemble B.

  11. [The evaluation of the risk factors for congenital hypothyroidism: the outlook of a case-control study].

    Science.gov (United States)

    Grandolfo, M E; Sagliocca, L; Stazi, M A; Medda, E; Olivieri, A; Sorcini, M

    1994-01-01

    The availability of a National Register of congenital hypothyroid infants allowed to perform descriptive studies on characteristics of the cases and the efficiency of the neonatal screening. Continuous and exhaustive recording of data concerning congenital hypothyroidism cases provided valuable epidemiological informations about congenital hypothyroidism in Italy. Moreover, the National Register allowed to develop a network of collaboration which can promote a population based case-control study. As the etiopathogenesis of congenital hypothyroidism has not been completely elucidated, performing of a case-control study can contribute to evidence the most important risk factors of congenital hypothyroidism and to improve the prevention also by prenatal diagnosis of this disease. Screening centers will be involved in the study and questionnaires of the National Register for congenital hypothyroidism will be used to record case and control informations. A biological bank concerning cases, controls and their parents, will be organized.

  12. Instrumentation and fusion for congenital spine deformities.

    Science.gov (United States)

    Hedequist, Daniel J

    2009-08-01

    A retrospective clinical review. To review the use of modern instrumentation of the spine for congenital spinal deformities. Spinal instrumentation has evolved since the advent of the Harrington rod. There is a paucity of literature, which discusses the use of modern spinal instrumentation in congenital spine deformity cases. This review focuses on modern instrumentation techniques for congenital scoliosis and kyphosis. A systematic review was performed of the literature to discuss spinal implant use for congenital deformities. Spinal instrumentation may be safely and effectively used in cases of congenital spinal deformity. Spinal surgeons taking care of children with congenital spine deformities need to be trained in all aspects of modern spinal instrumentation.

  13. Self-organized stationary states of tokamaks

    Science.gov (United States)

    Jardin, Stephen

    2015-11-01

    We report here on a nonlinear mechanism that forms and maintains a self-organized stationary (sawtooth free) state in tokamaks. This process was discovered by way of extensive long-time simulations using the M3D-C1 3D extended MHD code in which new physics diagnostics have been added. It is well known that most high-performance modes of tokamak operation undergo ``sawtooth'' cycles, in which the peaking of the toroidal current density triggers a periodic core instability which redistributes the current density. However, certain modes of operation are known, such as the ``hybrid'' mode in DIII-D, ASDEX-U, JT-60U and JET, and the long-lived modes in NSTX and MAST, which do not experience this cycle of instability. Empirically, it is observed that these modes maintain a non-axisymmetric equilibrium which somehow limits the peaking of the toroidal current density. The physical mechanism responsible for this has not previously been understood, but is often referred to as ``flux-pumping,'' in which poloidal flux is redistributed in order to maintain q0 >1. In this talk, we show that in long-time simulations of inductively driven plasmas, a steady-state magnetic equilibrium may be obtained in which the condition q0 >1 is maintained by a dynamo driven by a stationary marginal core interchange mode. This interchange mode, unstable because of the pressure gradient in the ultra-low shear region in the center region, causes a (1,1) perturbation in both the electrostatic potential and the magnetic field, which nonlinearly cause a (0,0) component in the loop voltage that acts to sustain the configuration. This hybrid mode may be a preferred mode of operation for ITER. We present parameter scans that indicate when this sawtooth-free operation can be expected.

  14. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

    Full Text Available Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen′s duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  15. Congenital lipoid adrenal hyperplasia

    Science.gov (United States)

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  16. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  17. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  18. Congenital hyperthyroidism: autopsy report

    Directory of Open Access Journals (Sweden)

    Lima Marcus Aurelho de

    1999-01-01

    Full Text Available We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton 's jelly. Hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.

  19. Congenital dyserythropoietic anemias.

    Science.gov (United States)

    Iolascon, Achille; Russo, Roberta; Delaunay, Jean

    2011-05-01

    Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Characteristic morphological aberrations were the cornerstone of diagnosis, but following the identification of several causative genes, the molecular approach could represent a rapid tool for the identification of these conditions. This review presents advances in diagnosis and classification of CDAs. The classification of CDAs has long been based on morphological features. Now, the discovery of some of the responsible genes allows reconsideration of part of the classification. The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1. Recently, the dramatic identification of the genes responsible for CDA II, SEC23B, and for a hitherto unnamed CDA, KLF1, took place. SEC23B encodes SEC23B which is a component of the coated vesicles transiting from the endoplasmic reticulum to the cis compartment of the Golgi apparatus. A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins. Studies of genotype-phenotype relationship, as has already been done for CDA II, will allow a more accurate prognosis. Identification of the responsible genes has opened new vistas for research on CDAs.

  20. Congenital parotid fistula.

    Science.gov (United States)

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  1. Intrathoracic implantation of a dual-chamber pacemaker in a preterm infant with congenital AV block.

    Science.gov (United States)

    Haydin, Sertac; Ozturk, Erkut; Ergul, Yakup; Tuzcu, Volkan

    2013-03-01

    Congenital complete atrioventricular block can be concomitant with congenital heart diseases or maternal connective tissue disorders like systemic lupus erythematosus and Sjögren's syndrome. Such patients may require implantation of a permanent pacemaker due to ventricular dysfunction. While many methods of pacemaker implantation have been tested, one that is optimal for low birth weight infants remains to be determined. We present a preterm infant with maternal Sjögren's syndrome with congenital heart block and describe the technique for implantation of an intrathoracic dual-chamber pacemaker. © 2013 Wiley Periodicals, Inc.

  2. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  3. Coping with congenital hand differences.

    Science.gov (United States)

    Franzblau, Lauren E; Chung, Kevin C; Carlozzi, Noelle; Chin, Autumn Y T; Nellans, Kate W; Waljee, Jennifer F

    2015-04-01

    Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children's ability to cope with the psychosocial effects of these conditions. The authors qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Forty patients and their parents participated in semistructured interviews examining children's stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. In this sample, 58 percent of children and 40 percent of parents reported stress related to congenital hand differences, attributed to functional deficits (61 percent), hand appearance (27 percent), social interactions (58 percent), and emotional reactions (46 percent). Among the 18 children who reported stress, 43 percent of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12 percent), self-acceptance (21 percent), avoidance (27 percent), seeking external support (30 percent), concealment (30 percent), educating others (9 percent), support programs (21 percent), and religion (24 percent). Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress to direct resources toward strengthening coping strategies and support systems.

  4. Congenital syphilis has not disappeared.

    Science.gov (United States)

    Lane, G K; Oates, R K

    1988-02-15

    Thirty-three cases of congenital syphilis that were seen at The Children's Hospital, Camperdown, over a 34-year period were reviewed. Twenty-nine cases were examples of early congenital syphilis, as the patients developed clinical features in the first two years of life, and the other four cases were examples of late congenital syphilis, with the clinical features developing between two years and nine months of age and 10 years of age. Twenty-five patients were symptomatic at the time of admission to hospital. The most common clinical feature on the patient's presentation to hospital was a maculopapular or vesiculobullous skin eruption which occurred in 13 of the infants. Hepatic and splenic enlargement were present in 12 cases, and nine children had the "snuffles". Five of the children died. Patient follow-up occurred in fewer than 40% of cases and three of the children who were followed-up suffer from developmental delay. Congenital syphilis can occur in all social groups but is most common in infants who are premature or are small for gestational age and are born to young, unmarried mothers of low socioeconomic status. The treatment of congenital syphilis is simple and effective although the patients may need to be linked with community-health facilities to assist in their compliance with follow-up appointments.

  5. 7 CFR 2902.28 - Stationary equipment hydraulic fluids.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 15 2010-01-01 2010-01-01 false Stationary equipment hydraulic fluids. 2902.28 Section 2902.28 Agriculture Regulations of the Department of Agriculture (Continued) OFFICE OF ENERGY... PROCUREMENT Designated Items § 2902.28 Stationary equipment hydraulic fluids. (a) Definition. Fluids...

  6. Stationary solutions and Neumann boundary conditions in the Sivashinsky equation.

    Science.gov (United States)

    Denet, Bruno

    2006-09-01

    New stationary solutions of the (Michelson) Sivashinsky equation of premixed flames are obtained numerically in this paper. Some of these solutions, of the bicoalescent type recently described by Guidi and Marchetti, are stable with Neumann boundary conditions. With these boundary conditions, the time evolution of the Sivashinsky equation in the presence of a moderate white noise is controlled by jumps between stationary solutions.

  7. Congenital absence of the portal vein associated with congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Gocmen, Rahsan; Akhan, Okan [Hacettepe University Faculty of Medicine, Radiology Department, Ankara (Turkey); Talim, Beril [Hacettepe University Faculty of Medicine, Pathology Department, Ankara (Turkey)

    2007-09-15

    The radiological features of a 7-year-old boy with congenital absence of the portal vein, pathologically proven congenital hepatic fibrosis, double inferior vena cava, ventricular septal defect, vertebral anomalies, crossed fused renal ectopia, and facial anomalies with pathological correlation are reported. This association between congenital absence of the portal vein and congenital hepatic fibrosis is unique. (orig.)

  8. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  9. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics MalaCards: congenital leptin deficiency Orphanet: Obesity due to congenital leptin deficiency ...

  10. Congenital cervical kyphosis in two young sighthounds.

    Science.gov (United States)

    Forterre, F; Casoni, D; Tomek, A; Karli, P; Howard, J; Precht, C

    2015-01-01

    Cervical vertebral (C) malformation is rarely reported in large breed dogs. Congenital cervical kyphosis (CCK) may result from defects of vertebral segmentation, failure of formation or both. This report describes two cases of C3-C4 CCK in young sighthounds, treated surgically. An 18-month-old female Deerhound and a six-week-old female Borzoi dog were presented because of the complaints of reluctance to exercise and signs of of neck pain. Both dogs were neurologically normal. Diagnostic imaging revealed C3-C4 deformity, moderate kyphosis, and spinal canal stenosis associated with chronic spinal cord pressure atrophy. Both dogs underwent surgical treatment. A staged two-step surgery starting with dorsal decompression was elected in the Deerhound. After the first surgical procedure, the dog developed focal myelomalacia and phrenic nerve paralysis and was euthanatized. A ventral distraction-fusion technique with two locking plates was performed in the Borzoi. This patient recovered uneventfully and long-term follow-up computed tomography revealed complete spondylodesis. Until now, CCK has only been described in sighthounds. Congenital cervical kyphosis might be considered a differential diagnosis in these breeds that are presented with signs of cervical pain. Ventral realignment-fusion and bone grafting may be considered for surgical treatment, although the earliest age at which this procedure can and should be performed remains unclear.

  11. Molecular Basis of Stationary Phase Survival and Applications

    Directory of Open Access Journals (Sweden)

    Jananee Jaishankar

    2017-10-01

    Full Text Available Stationary phase is the stage when growth ceases but cells remain metabolically active. Several physical and molecular changes take place during this stage that makes them interesting to explore. The characteristic proteins synthesized in the stationary phase are indispensable as they confer viability to the bacteria. Detailed knowledge of these proteins and the genes synthesizing them is required to understand the survival in such nutrient deprived conditions. The promoters, which drive the expression of these genes, are called stationary phase promoters. These promoters exhibit increased activity in the stationary phase and less or no activity in the exponential phase. The vectors constructed based on these promoters are ideal for large-scale protein production due to the absence of any external inducers. A number of recombinant protein production systems have been developed using these promoters. This review describes the stationary phase survival of bacteria, the promoters involved, their importance, regulation, and applications.

  12. Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

    Science.gov (United States)

    Melo, Adriana Suely de Oliveira; Aguiar, Renato Santana; Amorim, Melania Maria Ramos; Arruda, Monica B; Melo, Fabiana de Oliveira; Ribeiro, Suelem Taís Clementino; Batista, Alba Gean Medeiros; Ferreira, Thales; Dos Santos, Mayra Pereira; Sampaio, Virgínia Vilar; Moura, Sarah Rogéria Martins; Rabello, Luciana Portela; Gonzaga, Clarissa Emanuelle; Malinger, Gustavo; Ximenes, Renato; de Oliveira-Szejnfeld, Patricia Soares; Tovar-Moll, Fernanda; Chimelli, Leila; Silveira, Paola Paz; Delvechio, Rodrigo; Higa, Luiza; Campanati, Loraine; Nogueira, Rita M R; Filippis, Ana Maria Bispo; Szejnfeld, Jacob; Voloch, Carolina Moreira; Ferreira, Orlando C; Brindeiro, Rodrigo M; Tanuri, Amilcar

    2016-12-01

    brain). Phylogenetic analyses showed an intrahost virus variation with some polymorphisms in envelope genes associated with different tissues. Combined findings from clinical, laboratory, imaging, and pathological examinations provided a more complete picture of the severe damage and developmental abnormalities caused by ZIKV infection than has been previously reported. The term congenital Zika syndrome is preferable to refer to these cases, as microcephaly is just one of the clinical signs of this congenital malformation disorder.

  13. 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...

  14. Junctional ectopic tachycardia evolving into complete heart block

    NARCIS (Netherlands)

    Henneveld, H; Hutter, P; Bink-Boelkens, M; Sreeram, N

    1998-01-01

    Transition from congenital junctional ectopic tachycardia to complete AV block was observed in an 8 month old girl, over a 36 hour period, during initial hospital admission. Two years later she had evidence of a rapidly increasing left ventricular end diastolic diameter, associated with lowest heart

  15. Permanent complete heart block following surgical correction of ...

    African Journals Online (AJOL)

    Background: The risk of complete heart block (CHB) from congenital heart repairs in Ghana is unknown. This information is important for referring physicians and in pre-operative counselling of patients and facilitates the process of obtaining informed consent for such repairs. Objectives: This study was undertaken to ...

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

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

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

  17. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

    Dikkers, FG; Verheij, JBGM; van Mechelen, M

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral

  18. Demographic and Clinical Aspects of Congenital Hypothyroidism ...

    African Journals Online (AJOL)

    Introduction: Congenital hypothyroidism is the most common congenital endocrine disorder worldwide. Approximately 80 to 85% of cases are caused by defects in thyroid development (dysgenesis), the remaining 15 to 20% are due to errors of thyroid hormone biosynthesis (dyshormonogenesis). Congenital hypothyroidism ...

  19. Bradyarrhythmias in Congenital Heart Disease.

    Science.gov (United States)

    Carlson, Steven K; Patel, Akash R; Chang, Philip M

    2017-06-01

    Bradyarrhythmias in adults with congenital heart disease (CHD) comprise a complex group of arrhythmia disorders with congenital and acquired origins, highly variable long-term sequelae, and complicated treatment options. They can develop across the spectrum of CHD defects and can be encountered at all ages. Although permanent pacing is effective in treating bradyarrhythmias, it is associated with many complications and morbidity, where it is often used early in life. This section discusses the incidence and prevalence of bradyarrhythmias in the CHD population, their timing of occurrence with respect to specific disease entities and interventions, and their short- and long-term clinical sequelae. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Growth of microalgae in autotrophic stationary systems

    Directory of Open Access Journals (Sweden)

    Paulo Cunha

    2008-06-01

    Full Text Available In this paper we evaluate the growth of nine marine microalgae species (Nannochloropsis oculata, Thalassiosira pseudonana, Phaeodactylum tricornutum, Isochrysis galbana, Tetraselmis suecica, Tetraselmis chuii, Chaetoceros muelleri, Thalassiosira fluviatilis and Isochrysis sp. and one freshwater species (Chlorella vulgaris under stationary autotrophy conditions, using erlenmeyers fl asks with 800mL of culture medium exposed to constant light intensities providing a photon flux density of about 150μmol.m-2.s-1 and 25±2oC temperature and constant air flow. The experiment was carried out in a controlled environment considering a block delineating randomized over time with three replicates. The Nannochloropsis oculata showed the highest value of maximum cellular density, but with a longer period of time and a lower growth rate. This was probably due to its tiny cell size, demanding a large number of cells per volume to attain its optimum conditions for light, nutrients, water and atmospheric carbon dioxide. In addition, in spite of showing one of the lowest values of maximum cellular density, Thalassiosira fluviatilis was the species that reached its maximum in a short period of time at the highest growth rate. Chlorella vulgaris was the only freshwater species tested and it showed the poorest performance for all the variables analyzed in the current study.

  1. Stationary intraoral tomosynthesis for dental imaging

    Science.gov (United States)

    Inscoe, Christina R.; Wu, Gongting; Soulioti, Danai E.; Platin, Enrique; Mol, Andre; Gaalaas, Laurence R.; Anderson, Michael R.; Tucker, Andrew W.; Boyce, Sarah; Shan, Jing; Gonzales, Brian; Lu, Jianping; Zhou, Otto

    2017-03-01

    Despite recent advances in dental radiography, the diagnostic accuracies for some of the most common dental diseases have not improved significantly, and in some cases remain low. Intraoral x-ray is the most commonly used x-ray diagnostic tool in dental clinics. It however suffers from the typical limitations of a 2D imaging modality including structure overlap. Cone-beam computed tomography (CBCT) uses high radiation dose and suffers from image artifacts and relatively low resolution. The purpose of this study is to investigate the feasibility of developing a stationary intraoral tomosynthesis (s-IOT) using spatially distributed carbon nanotube (CNT) x-ray array technology, and to evaluate its diagnostic accuracy compared to conventional 2D intraoral x-ray. A bench-top s-IOT device was constructed using a linear CNT based X-ray source array and a digital intraoral detector. Image reconstruction was performed using an iterative reconstruction algorithm. Studies were performed to optimize the imaging configuration. For evaluation of s-IOT's diagnostic accuracy, images of a dental quality assurance phantom, and extracted human tooth specimens were acquired. Results show s-IOT increases the diagnostic sensitivity for caries compared to intraoral x-ray at a comparable dose level.

  2. Stationary black holes with stringy hair

    Science.gov (United States)

    Boos, Jens; Frolov, Valeri P.

    2018-01-01

    We discuss properties of black holes which are pierced by special configurations of cosmic strings. For static black holes, we consider radial strings in the limit when the number of strings grows to infinity while the tension of each single string tends to zero. In a properly taken limit, the stress-energy tensor of the string distribution is finite. We call such matter stringy matter. We present a solution of the Einstein equations for an electrically charged static black hole with the stringy matter, with and without a cosmological constant. This solution is a warped product of two metrics. One of them is a deformed 2-sphere, whose Gaussian curvature is determined by the energy density of the stringy matter. We discuss the embedding of a corresponding distorted sphere into a three-dimensional Euclidean space and formulate consistency conditions. We also found a relation between the square of the Weyl tensor invariant of the four-dimensional spacetime of the stringy black holes and the energy density of the stringy matter. In the second part of the paper, we discuss test stationary strings in the Kerr geometry and in its Kerr-NUT-(anti-)de Sitter generalizations. Explicit solutions for strings that are regular at the event horizon are obtained. Using these solutions, the stress-energy tensor of the stringy matter in these geometries is calculated. Extraction of the angular momentum from rotating black holes by such strings is also discussed.

  3. Managing heterogeneous networks of mobile and stationary sensors

    Science.gov (United States)

    Bürkle, Axel; Solbrig, Peter; Segor, Florian; Bulatov, Dimitri; Wernerus, Peter; Müller, Sven

    2011-11-01

    Protecting critical infrastructure against intrusion, sabotage or vandalism is a task that requires a comprehensive situation picture. Modern security systems should provide a total solution including sensors, software, hardware, and a "control unit" to ensure complete security. Incorporating unmanned mobile sensors can significantly help to close information gaps and gain an ad hoc picture of areas where no pre-installed supervision infrastructure is available or damaged after an incident. Fraunhofer IOSB has developed the generic ground control station AMFIS which is capable of managing sensor data acquisition with all kinds of unattended stationary sensors, mobile ad hoc sensor networks, and mobile sensor platforms. The system is highly mobile and able to control various mobile platforms such as small UAVs (Unmanned Aerial Vehicles) and UGVs (Unmanned Ground Vehicles). In order to establish a real-time situation picture, also an image exploitation process is used. In this process, video frames from different sources (mainly from small UAVs) are georeferenced by means of a system of image registration methods. Relevant information can be obtained by a motion detection module. Thus, the image exploitation process can accelerate the situation assessment significantly.

  4. Congenital long QT syndrome

    Directory of Open Access Journals (Sweden)

    Celano Giuseppe

    2008-07-01

    Full Text Available Abstract Congenital long QT syndrome (LQTS is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1 is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with β-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose β-blockade, left cardiac sympathetic denervation (LCSD should be performed without hesitation and implantable cardioverter defibrillator (ICD therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability

  5. Transumbilical laparoscopic treatment of Congenital Infantile Fibrosarcoma of the Ileum.

    Science.gov (United States)

    Scirè, G; Mantovani, A; Zampieri, N; Guerriero, V A; Segala, D; Pecori, S; Bruno, C; Camoglio, F S

    2014-08-31

    Congenital-Infantile Fibrosarcoma (CIF) is a malignant mesenchymal tumor representing 10-20% of soft-tissue tumors. Complete surgical resection is generally the treatment of choice. The most recurrent cytogenetic abnormality was identified as the traslocation t(12;15)(p13:q25), which bears the fusion of Tel gene EVT6 with TrkC gene. This study describes a case of infantile fibrosarcoma of the ileum in a female newborn examined for intestinal occlusion and its laparoscopic treatment.

  6. Dual radiopharmaceutical imaging in congenital asplenia syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Rao, B.K.; Shore, R.M.; Lieberman, L.M.; Polcyn, R.E.

    1982-12-01

    Asplenia was suspected in one patient with combined immunodeficiency syndrome and 5 with congenital cardiac anomalies who had Howell-Jolly bodies on peripheral blood smears. /sup 99m/Tc-sulfur colloid scans were equivocal for absence of the spleen. When they were compared with the /sup 99m/Tc-PIPIDA hepatobiliary images, a discrepancy in organ morphology between the two scans indicated that the spleen was present, whereas similarity of the two images suggested asplenia. This procedure was useful in establishing asplenia in 4 patients and confirming the presence of a rudimentary or ectopic spleen in 2 others. Unequivocal demonstration of the spleen on the sulfur colloid scans makes the hepatobiliary study unnecessary, while unequivocal demonstration of a normal-appearing liver without splenic activity may warrant a tagged red-cell study for a more complete evaluation.

  7. Dual radiopharmaceutical imaging in congenital asplenia syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Rao, B.K. (Univ. Hospital, Cleveland, OH); Shore, R.M.; Lieberman, L.M.; Polcyn, R.E.

    1982-12-01

    Asplenia was suspected in one patient with combined immunodeficiency syndrome and 5 with congenital cardiac anomalies who had Howell-Jolly bodies on peripheral blood smears. /sup 99//sup m/Tc-sulfur colloid scans were equivocal for absence of the spleen. When they were compared with the /sup 99//sup m/Tc-PIPIDA hepatobiliary images, a discrepancy in organ morphology between the two scans indicated that the spleen was present, whereas similarity of the two images suggested asplenia. This procedure was useful in establishing asplenia in 4 patients and confirming the presence of a rudimentary or ectopic spleen in 2 others. Unequivocal demonstration of the spleen on the sulfur colloid scans makes the hepatobiliary study unnecessary, while unequivocal demonstration of abnormal-appearing liver without splenic activity may warrant a tagged red-cell study for a more complete evaluation.

  8. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    related complications; and post-discharge gastrointestinal surgery. RESULTS: GDM was placed in 34 (gastroschisis=27, omphalocele=7) patients during the study period. Complete closure of the fascia was obtained in one patient with omphalocele and in 22 patients with gastroschisis. Mesh related surgical...

  9. MRI in Congenital Facial Palsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-03-01

    Full Text Available Magnetic resonance (MR findings in a 12-month-old boy with congenital unilateral facial palsy and a 9-month-old girl with atypical Moebius syndrome are reported from the National Center of Neurology and Psychiatry, Kodaira, Japan.

  10. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  11. Congenital infantile fibrosarcoma mimicking sacrococcygeal ...

    African Journals Online (AJOL)

    The poor predilection of the tumour for distant metastases may contribute to its above average prognosis, but the rarity of systemic antenatal detection of congenital conditions in most parts of Africa may mitigate this good fortune. We report the very rare case of a 9-month-old female infant who presented with a progressively ...

  12. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm the child's long term health or well-being. Description There are many types of pediatric heart surgery . Patent ductus arteriosus (PDA) ...

  13. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... Congenital cystic adenomatoid malformation of the lung is a rare lesion that typically manifests as severe progressive respiratory distress in the neonate secondary to expansion of the affected lung. We present a neonate in whom this condition was diagnosed and managed at the Aga Khan University ...

  14. Clinical manifestations of congenital aniridia.

    Science.gov (United States)

    Singh, Bhupesh; Mohamed, Ashik; Chaurasia, Sunita; Ramappa, Muralidhar; Mandal, Anil Kumar; Jalali, Subhadra; Sangwan, Virender S

    2014-01-01

    To study the various clinical manifestations associated with congenital aniridia in an Indian population. In this retrospective, consecutive, observational case series, all patients with the diagnosis of congenital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated systemic and ocular manifestations were studied. The study included 262 eyes of 131 patients with congenital aniridia. Median patient age at the time of initial visit was 8 years (range: 1 day to 73 years). Most cases were sporadic and none of the patients had parents afflicted with aniridia. The most common anterior segment abnormality identified was lenticular changes. Cataract was the predominant lens finding, observed in 93 of 231 (40.3%) phakic eyes. Other lens abnormalities were subluxation, coloboma, posterior lenticonus, and microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma was identified in 95 of 262 (36.3%) eyes, and foveal hypoplasia could be assessed in 230 of 262 (87.7%) eyes. Median age when glaucoma and cataract were noted was 7 and 14 years, respectively. None of the patients had Wilm's tumor. Congenital aniridia was commonly associated with classically described ocular features. However, systemic associations were characteristically absent in this population. Notably, cataract and glaucoma were seen at an early age. This warrants a careful evaluation and periodic follow-up in these patients for timely identification and appropriate management. Copyright 2014, SLACK Incorporated.

  15. CONGENITAL SYPHILIS IN AN IMMUNOCOMPROMISED ...

    African Journals Online (AJOL)

    hi-tech

    East African Medical Journal Vol. 80 No. 12 December 2003. CONGENITAL SYPHILIS IN IMMUNOCOMPROMISED NEONATE: CASE REPORT. A. M. O., Shonubi, MBBS, FMCS, FWACS. Consultant Paediatric Surgeon; Queen Elizabeth II Hospital, Maseru, Kingdom of Lesotho, B. A., Salami, MBBS,. FMCS. Consultant ...

  16. Congenital Chagas disease: an update

    Directory of Open Access Journals (Sweden)

    Yves Carlier

    2015-05-01

    Full Text Available Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi.

  17. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. The Role of Output Speech in Literacy Acquisition: Evidence from Congenital Anarthria.

    Science.gov (United States)

    Cossu, Giuseppe

    2003-01-01

    Examines literary acquisition in a congenitally speechless child. Explains that in spite of a complete oral apraxia, the child developed normal intelligence and acquired complete mastery of reading and writing skills. Notes that though both his verbal memory and metaphonological skills were surprisingly preserved, he showed relative impairment in…

  19. Simultaneous repair of pectus excavatum and pulmonary valve implantation years after complete repair of tetralogy of Fallot.

    Science.gov (United States)

    Tuncer, Eylem; Vuran, Ali Can; Ozyuksel, Arda; Yeginsu, Ali; Ceyran, Hakan

    2017-02-01

    Although pectus excavatum is a common congenital abnormality of the chest wall, its coexistence with congenital heart defects is rarely encountered. In this report, we present a young adult who was re-operated for pulmonary valve regurgitation and pectus excavatum years after complete repair of tetralogy of Fallot. The surgical challenge and pitfalls are discussed along with a brief review of the literature.

  20. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

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

  1. STABLE STATIONARY STATES OF NON-LOCAL INTERACTION EQUATIONS

    KAUST Repository

    FELLNER, KLEMENS

    2010-12-01

    In this paper, we are interested in the large-time behaviour of a solution to a non-local interaction equation, where a density of particles/individuals evolves subject to an interaction potential and an external potential. It is known that for regular interaction potentials, stable stationary states of these equations are generically finite sums of Dirac masses. For a finite sum of Dirac masses, we give (i) a condition to be a stationary state, (ii) two necessary conditions of linear stability w.r.t. shifts and reallocations of individual Dirac masses, and (iii) show that these linear stability conditions imply local non-linear stability. Finally, we show that for regular repulsive interaction potential Wε converging to a singular repulsive interaction potential W, the Dirac-type stationary states ρ̄ ε approximate weakly a unique stationary state ρ̄ ∈ L∞. We illustrate our results with numerical examples. © 2010 World Scientific Publishing Company.

  2. Non-stationary probabilities for the asymmetric exclusion process on ...

    Indian Academy of Sciences (India)

    stationary probabilities for the asymmetric exclusion process on a ring. V B Priezzhev. Invited Talks:- Topic 4: Pattern formation in systems out of equilibrium (growth processes, fracture, hydrodynamic instabilities, chemical reactions, granular flows, etc ...

  3. Gyrokinetic modelling of stationary electron and impurity profiles in tokamaks

    CERN Document Server

    Skyman, Andreas; Tegnered, Daniel

    2014-01-01

    Particle transport due to Ion Temperature Gradient/Trapped Electron (ITG/TE) mode turbulence is investigated using the gyrokinetic code GENE. Both a reduced quasilinear (QL) treatment and nonlinear (NL) simulations are performed for typical tokamak parameters corresponding to ITG dominated turbulence. A selfconsistent treatment is used, where the stationary local profiles are calculated corresponding to zero particle flux simultaneously for electrons and trace impurities. The scaling of the stationary profiles with magnetic shear, safety factor, electron-to-ion temperature ratio, collisionality, toroidal sheared rotation, triangularity, and elongation is investigated. In addition, the effect of different main ion mass on the zero flux condition is discussed. The electron density gradient can significantly affect the stationary impurity profile scaling. It is therefore expected, that a selfconsistent treatment will yield results more comparable to experimental results for parameter scans where the stationary b...

  4. Multidimensional stationary probability distribution for interacting active particles

    National Research Council Canada - National Science Library

    Maggi, Claudio; Marconi, Umberto Marini Bettolo; Gnan, Nicoletta; Di Leonardo, Roberto

    2015-01-01

    We derive the stationary probability distribution for a non-equilibrium system composed by an arbitrary number of degrees of freedom that are subject to Gaussian colored noise and a conservative potential...

  5. Large Stationary Gravity Waves: A Game Changer for Venus' Science

    Science.gov (United States)

    Navarro, T.; Schubert, G.; Lebonnois, S.

    2017-11-01

    In 2015, the discovery by the Akatsuki spacecraft of an astonishing, unexpected, 10,000 km long meridional structure at the cloud top, stationary with respect to the surface, calls into question our very basic understanding of Venus.

  6. Local polynomial Whittle estimation covering non-stationary fractional processes

    DEFF Research Database (Denmark)

    Nielsen, Frank

    This paper extends the local polynomial Whittle estimator of Andrews & Sun (2004) to fractionally integrated processes covering stationary and non-stationary regions. We utilize the notion of the extended discrete Fourier transform and periodogram to extend the local polynomial Whittle estimator ...... study illustrates the performance of the proposed estimator compared to the classical local Whittle estimator and the local polynomial Whittle estimator. The empirical justi.cation of the proposed estimator is shown through an analysis of credit spreads....

  7. Geophysics-based method of locating a stationary earth object

    Science.gov (United States)

    Daily, Michael R [Albuquerque, NM; Rohde, Steven B [Corrales, NM; Novak, James L [Albuquerque, NM

    2008-05-20

    A geophysics-based method for determining the position of a stationary earth object uses the periodic changes in the gravity vector of the earth caused by the sun- and moon-orbits. Because the local gravity field is highly irregular over a global scale, a model of local tidal accelerations can be compared to actual accelerometer measurements to determine the latitude and longitude of the stationary object.

  8. Stationary Density Variation Produced by a Standing Plasma Wave

    DEFF Research Database (Denmark)

    Michelsen, Poul; Pécseli, Hans; Juul Rasmussen, Jens

    1977-01-01

    Measurements are presented of a stationary density modulation produced by a standing electron plasma wave. The experimental results are well explained by taking into account the ponderomotive forces on the electrons exerted by the high frequency field.......Measurements are presented of a stationary density modulation produced by a standing electron plasma wave. The experimental results are well explained by taking into account the ponderomotive forces on the electrons exerted by the high frequency field....

  9. Stability of erythrocyte suspensions layered on stationary and flowing liquids

    Science.gov (United States)

    Omenyi, S. N.; Rhodes, P. H.; Snyder, R. S.

    1982-01-01

    The apparent stability of erythrocyte suspensions layered on stationary and flowing Ficoll solutions was studied considering the effects of particle concentration, type and size, and the different flow rates of the particle suspensions and chamber liquid. The data from the flowing system were empirically fitted and, when extrapolated to zero chamber liquid flow rate, gave values comparable to the data from the stationary system, thus confirming the validity of the data and our approach to obtain that data.

  10. Amplatzer duct occluder II for closure of congenital Gerbode defects.

    Science.gov (United States)

    Vijayalakshmi, I B; Natraj Setty, H S; Chitra, Narasimhan; Manjunath, Cholenahally N

    2015-11-15

    Congenital left ventricle to right atrial communications (Gerbode defects) are extremely rare (0.08%) type of ventricular septal defects. They were traditionally closed by surgery in the past. There are few case reports and small series of acquired and congenital Gerbode defects, closed with various types of devices. Aim of our study is to assess the feasibility, efficacy, and complications of transcatheter closure of congenital Gerbode defects with Amplatzer duct occluder II (ADO II). Twelve consecutive cases of Gerbode defects, age ranging from 10 months to 16 years (mean 6.7 years), weight ranging from 6.5 kg to 34 kg (mean 19.3 kg), were diagnosed on transthoracic echocardiography. Transcatheter closure of Gerbode defects was done successfully through retrograde approach with ADO II. No aortic or tricuspid regurgitation or residual shunt occurred in any of the patients. One patient developed transient complete heart block needing temporary pacing. The soft low profile, easily trackable ADO II appears to be ideal for closure of Gerbode defects, as the central cylinder fits in the defect and the soft retention discs on either side, without polyester material, do not impinge on either aortic, mitral, or tricuspid valve. We report the successful transcatheter closure of twelve cases of congenital Gerbode defects with ADO II. Transcatheter closure of congenital Gerbode defects with ADO II is safe, effective, and an attractive alternative to surgical closure. ADO II appears to be tailor made for Gerbode defects, as the success rate is very high and complication rate is very low. © 2015 Wiley Periodicals, Inc.

  11. Patient satisfaction with correction of congenital penile curvature.

    Science.gov (United States)

    Mayer, M; Rey Valzacchi, G; Silva Garretón, A; Layus, O; Gueglio, G

    2017-12-29

    Congenital penile curvature is a relatively rare disease, resulting from a deviation of the penis from the body's straight axis when erect. The prevalence is difficult to determine. Although it has been suggested that the condition could affect up to 10% of the male population, most of these deviations are minor, with no clinical or psychological importance, which leads to its underdiagnosis. Effective correction of the deviation can markedly improve the quality of life of adolescents with this condition. To assess the quality of the sex life of patients diagnosed with congenital penile curvature who underwent surgical correction. Design Retrospective, observational cohort study. Data was collected from the medical records of patients who underwent surgical correction of congenital penile curvature from June 2004 to August 2016. The patients completed the following self-administered questionnaires: Sexual Quality of Life Questionnaire-Male (SQOL-M), International Index of Erectile Function 5 (IIEF 5) and "How satisfied are you with the results of the surgery? From 0 to 10". Twenty-two corporoplasties were performed to correct the patients' congenital penile curvature. The patients' average age was 23.4 years (range, 17-35). The mean deviation prior to surgery was 47.9° (range, 20°-90°). The average score on the SQOL-M was 52 points (range, 6-66). The average score on the IIEF 5 was 22.4 points. Congenital penile curvature profoundly decreases quality of life, and early surgery is fundamental for repairing the anatomical deformation and thereby significantly restores the patients' psychosocial and sexual wellbeing. Copyright © 2017 AEU. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    related complications; and post-discharge gastrointestinal surgery. RESULTS: GDM was placed in 34 (gastroschisis=27, omphalocele=7) patients during the study period. Complete closure of the fascia was obtained in one patient with omphalocele and in 22 patients with gastroschisis. Mesh related surgical...... complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure...

  13. Influence of Stationary Crossflow Modulation on Secondary Instability

    Science.gov (United States)

    Choudhari, Meelan M.; Li, Fei; Paredes, Pedro

    2016-01-01

    A likely scenario for swept wing transition on subsonic aircraft with natural laminar flow involves the breakdown of stationary crossflow vortices via high frequency secondary instability. A majority of the prior research on this secondary instability has focused on crossflow vortices with a single dominant spanwise wavelength. This paper investigates the effects of the spanwise modulation of stationary crossflow vortices at a specified wavelength by a subharmonic stationary mode. Secondary instability of the modulated crossflow pattern is studied using planar, partial-differential-equation based eigenvalue analysis. Computations reveal that weak modulation by the first subharmonic of the input stationary mode leads to mode splitting that is particularly obvious for Y-type secondary modes that are driven by the wall-normal shear of the basic state. Thus, for each Y mode corresponding to the fundamental wavelength of results in unmodulated train of crossflow vortices, the modulated flow supports a pair of secondary modes with somewhat different amplification rates. The mode splitting phenomenon suggests that a more complex stationary modulation such as that induced by natural surface roughness would yield a considerably richer spectrum of secondary instability modes. Even modest levels of subharmonic modulation are shown to have a strong effect on the overall amplification of secondary disturbances, particularly the Z-modes driven by the spanwise shear of the basic state. Preliminary computations related to the nonlinear breakdown of these secondary disturbances provide interesting insights into the process of crossflow transition in the presence of the first subharmonic of the dominant stationary vortex.

  14. A case of congenital solitary Langerhans cell histiocytoma.

    LENUS (Irish Health Repository)

    Ricciardo, Bernadette

    2012-02-01

    A newborn baby boy was referred to the Paediatric Dermatology Unit with a solitary asymptomatic nodule overlying his right nasolabial fold. Complete physical examination, full blood count, serum chemistry, liver function tests and baseline imaging were unremarkable. Histopathological examination showed an atypical dermal infiltrate of mononuclear cells that stained positive with CD1a and S100. A diagnosis of congenital solitary Langerhans cell histiocytoma was made. The lesion completely resolved by 4 months of age. The baby is now 15 months old and repeat systemic evaluation has remained normal.

  15. [MRI in congenital Brown's syndrome: report of 16 cases].

    Science.gov (United States)

    Cousin, M; Girard, N; Denis, D

    2013-03-01

    Superior oblique retraction syndrome or Brown's syndrome is one of the so-called restrictive syndromes causing anatomic strabismus. It is characterized by active and passive limitation of upward gaze in adduction in the field of action of the superior oblique muscle (SO). The etiology of this congenital syndrome remains unknown. The purpose of this prospective study is to analyze brain and orbital magnetic resonance imaging (MRI) in patients with congenital Brown's syndrome. Sixteen children (19 months - 9 years) underwent complete ophthalmologic evaluation followed by brain/orbital MRI with attention to the superior oblique muscle. Average age at time of MRI was 4.2 years old. Among patients included were eight girls and eight boys. MRI was performed on a 1.5T (Symphony TIM, Siemens, Erlangen) to visualize the orbit and specifically the SO. Of 16 eyes, 13 demonstrated radiologic abnormalities of the SO muscle; six demonstrated tendon-trochlea complex hypertrophy, four demonstrated complete SO hypertrophy (tendon-trochlea-muscle belly), one demonstrated trochlear hypertrophy, and two demonstrated abnormalities solely of the tendons, of which one was longer and one was thinner with fibrosis. MRI shows a high frequency of SO radiologic abnormalities in congenital Brown's syndrome. MRI permits the analysis of not only the tendon, but also the trochlea and muscle belly, whereas surgery only allows visualization of the tendon. MRI proved to be an interesting tool for investigation of these patients and for a better understanding of the pathogenesis. Copyright © 2012. Published by Elsevier Masson SAS.

  16. Rapid On-Line Control to Reaching Is Preserved in Children With Congenital Spastic Hemiplegia: Evidence From Double-Step Reaching Performance.

    Science.gov (United States)

    Hyde, Christian; Fuelscher, Ian; Enticott, Peter G; Reid, Susan M; Williams, Jacqueline

    2015-08-01

    This study aimed to investigate the integrity of on-line control of reaching in congenital spastic hemiplegia in light of disparate evidence. Twelve children with and without spastic hemiplegia (11-17 years old) completed a double-step reaching task requiring them to reach and touch a target that remained stationary for most trials (viz nonjump trial) but unexpectedly displaced laterally at movement onset for a minority of trials (20%: known as jump trials). Although children with spastic hemiplegia were generally slower than age-matched controls, they could account for target perturbation at age-appropriate levels shown by a lack of interaction effect on movement time and nonsignificant group difference for time to reach trajectory correction on jump trials. Our data suggest that at a group level, on-line control of reaching may be age-appropriate in spastic hemiplegia. However, our data also highlight the need to experimentally acknowledge the considerable heterogeneity of the spastic hemiplegia population when investigating motor cognition. © The Author(s) 2014.

  17. Congenital chloride diarrhea: late presentation

    Directory of Open Access Journals (Sweden)

    Al Bishi L

    2011-04-01

    Full Text Available Laila Al Bishi1, Mustafa Al Toonisi2Pediatric Department, North West Armed Forces Hospital, Tabuk, Kingdom of Saudi ArabiaAbstract: We report the case of a male infant who presented with diarrhea at 6 months of age. He was failing to thrive, and biochemical investigation revealed hypokalemic hypochloremic metabolic alkalosis. Diagnosis of congenital chloride diarrhea was suspected and confirmed by the stool chloride result. He was started on high-dose sodium chloride and potassium chloride to control the electrolyte imbalance. The disease was difficult to control for a year after diagnosis. Late presentation is associated with severe chronic electrolyte disturbances and high-dose replacement therapy.Keywords: congenital chloride diarrhea, hypokalemic hypochloremic metabolic alkalosis, high stool chloride

  18. Pulmonary abscesses in congenital syphilis.

    Science.gov (United States)

    Bell, Carrie; Taxy, Jerome

    2002-04-01

    Congenital syphilis remains a public health concern in the United States. Infants whose mothers are treated in the third trimester without adequate prenatal care have an increased risk of morbidity and mortality in the immediate perinatal period. The identification of Treponema pallidum in tissue is definitive confirmation of infection. We report the case of a 32-week gestational age infant born to a mother treated for syphilis 7 days prior to delivery. The infant died 12.5 hours after birth. At autopsy, there was extensive acute hyaline membrane disease. In addition, there were bilateral pulmonary abscesses with spirochetes. The onset of maternal disease was unknown, but was probably early in or prior to the pregnancy. This is an unusual case of pulmonary involvement in congenital syphilis.

  19. Congenital cervical bronchogenic cyst: A case report

    Directory of Open Access Journals (Sweden)

    Kiralj Aleksandar

    2015-01-01

    Full Text Available Introduction. Bronchogenic cysts are rare congenital anomalies of the embryonic foregut. They are caused by abnormal budding of diverticulum of the embryonic foregut between the 26th and 40th day of gestation. Bronchogenic cysts can appear in the mediastinum and pulmonary parenchyma, or at ectopic sites (neck, subcutaneous tissue or abdomen. So far, 70 cases of cervical localization of bronchogenic cysts have been reported. Majority of bronchogenic cysts have been diagnosed in the pediatric population. Bronchogenic cysts of the cervical area are generally asymptomatic and symptoms may occur if cysts become large or in case of infection of the cyst. The diagnosis is made based on clinical findings, radiological examination, but histopathologic findings are essential for establishing the final diagnosis. Treatment of cervical bronchogenic cyst involves surgical excision. Case Outline. Authors present a case of a 6-year-old female patient sent by a pediatrician to a maxillofacial surgeon due to asymptomatic lump on the left side of the neck. The patient had frequent respiratory infections and respiratory obstructions. Magnetic resonance imaging (MRI of the neck was performed and a well-circumscribed cystic formation on the left side of the neck was observed, with paratracheal location. The complete excision of the cyst was made transcervically. Histopathological findings pointed to bronchogenic cyst. Conclusion. Cervical bronchogenic cysts are rare congenital malformations. Considering the location, clinical findings and the radiological features, these cysts resemble other cervical lesions. Surgical treatment is important because it is both therapeutic and diagnostic. Reliable diagnosis of bronchogenic cysts is based on histopathological examination.

  20. [Stage-related therapy of congenital aniridia].

    Science.gov (United States)

    Seitz, B; Käsmann-Kellner, B; Viestenz, A

    2014-12-01

    The main reasons for the markedly reduced visual acuity in pediatric patients with congenital aniridia are foveal dysplasia and optic nerve hypoplasia. During the lifetime a lack of depth of focus and increased sensitivity to glare due to a partly or completely lacking iris may be accompanied by further complications such as cataracts, various types of glaucoma and corneal opacity. In principal, microsurgical intervention should be as minimally invasive as possible to avoid excessive intraocular fibrosis. It is not advisable to use any type of esthetic iris substitute in phakic eyes. Cataract surgery should be performed via small incisions with a foldable intraocular lens (IOL) but not by using a 10 mm diameter polymethyl methacrylate (PMMA) anirida IOL. The conservative therapy of the often progressive limbal stem cell deficiency of the cornea includes artificial tears containing unpreserved hyaluronic acid, gels, autologous serum and amniotic membrane transplantation. Limbal transplantation of various kinds with and without penetrating keratoplasty and the Boston keratoprothesis type I should be considered only in cases of significant reduction of visual acuity and/or recurrent epithelial defects. Glaucoma surgery should be performed primarily as trabeculotomy. Drainage devices (e.g. Ahmed valve) are suggested as a second line approach. The risk of scarring of the filtering bleb in trabeculectomy with mitomycin C is very high in childhood and adolescence. The stage-related therapy of congenital aniridia should always be based on a global view of the potentially increasing severity of cataract, glaucoma and corneal limbal stem cell deficiency during the lifetime. Each microsurgical intervention should be performed by the appropriate specialist and should be kept as minimally invasive as possible.

  1. Social burden and lifestyle in adults with congenital heart disease.

    Science.gov (United States)

    Zomer, A Carla; Vaartjes, Ilonca; Uiterwaal, Cuno S P; van der Velde, Enno T; Sieswerda, Gert-Jan T; Wajon, Elly M C; Plomp, Koos; van Bergen, Paul F M; Verheugt, Carianne L; Krivka, Eva; de Vries, Cees J; Lok, Dirk J A; Grobbee, Diederick E; Mulder, Barbara J M

    2012-06-01

    We aimed to evaluate how the presence and severity of congenital heart disease (CHD) influence social life and lifestyle in adult patients. A random sample (n = 1,496) from the CONgenital CORvitia (n = 11,047), the Dutch national registry of adult patients with CHD, completed a questionnaire on educational attainment, employment and marital statuses, and lifestyle (response 76%). The Utrecht Health Project provided a large reference group (n = 6,810) of unaffected subjects. Logistic regression models were used for subgroup analyses and to adjust for age, gender, and socioeconomic status where appropriate. Of all patients 51.5% were men (median age 39 years, interquartile range 29 to 51) with mild (46%), moderate (44%), and severe (10%) CHD. Young (sports participation (adjusted OR 1.2, p lifestyles compared to the reference group. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. Diagnostic imaging and surgical management of a congenital cervical teratoma

    Directory of Open Access Journals (Sweden)

    Sara T. Alharbi, SB-RAD

    2018-02-01

    Diagnosis of a congenital cervical teratoma is possible during an early prenatal ultrasound evaluation. The appearance depends on the size of the tumour, but it is typically a large neck mass with solid and cystic components that causes hyperextension of the neck and is frequently associated with polyhydramnios. In the postnatal period, ultrasound helps in differentiating cervical teratoma from other common congenital cervical masses. MRI is the modality of choice to evaluate the consistency of the tumour, surrounding soft tissue extent of the tumour, and any mass effect on other cervical structures. In our case report, we present a case of a full-term baby that was delivered with a large cervical mass. MRI was helpful in demonstrating the complex content of the mass, surrounding soft tissue extension, and mass effect on other major cervical structures. The clear demarcation of the mass facilitated complete surgical removal without complications.

  3. [Neonatal cholestasis and hypoglycemia like form of congenital hypopituitarism presentation].

    Science.gov (United States)

    Machado, Maren K; Bernardini, Alejandra; Giachetto, Gustavo

    2011-06-01

    Congenital hypopituitarism is a rare disease, of variable clinic. The neonatal hypoglycemia is one of the habitual forms of presentation; the cholestasis is a rare symptom of this disease. This is the case of a 2-months-old infant hospitalized for cholestatic jaundice. He added repeated episodes of severe hypoglycemia. We investigated metabolic and endocrine causes. The etiology was clarified by obtaining a critical sample that demonstrated the counterregulatory hormone deficiency. The diagnosis of congenital hypopituitarism was completed with confirmation of thyroid hormone and growth hormone deficiencies. It was confirmed the neuro-anatomical defect of “syndrome of pituitary stalk section” determined by pituitary stalk agenesis, pituitary hipoplasia, and ectopic neurohypophysis. Hormone replacement therapy was started with good response and outcome.

  4. Congenital upper lip pit: A rare case report

    Directory of Open Access Journals (Sweden)

    Leena James

    2015-01-01

    Full Text Available One of the rarest developmental malformations of the lip is congenital lip pits. They are usually seen as bilateral depressions in the vermilion zone of the lip and occur on the paramedian portion of the vermilion border of the lip. They are extremely rare in the upper lip. Lip pits are due to the failure of complete union of embryonic lateral sulci of the lip/notching of lip at an early stage of development with fixation of tissues of the base of the notch. Lip pits have also been associated with a variety of other congenital disorders and other malformations. The clinical and pathologic picture and the therapeutic aspects of this condition are discussed in this paper.

  5. [Congenital syphilis after reactivation of "healed" maternal primary infection].

    Science.gov (United States)

    Vieker, S; Siefert, S; Lemke, J; Püst, B

    2000-01-01

    The congenital syphilis is an infectious fetopathy which is able to affect the whole organism. In most cases symptoms are not obvious before week fourth to twelve of life. The infection of the mother is the precondition for the child's disease. The placental transfer takes place after the fifth to sixth month of gestation. We report about an eight week old baby with congenital syphilis. The positive maternal laboratory findings in the 4th month of pregnancy have been interpreted as a completely cured earlier infection causing a sero scar. The diagnosis became evident by serological tests detecting reactivation of maternal infection in late pregnancy and the clinical signs of acute infection of the child. There is a high risk of reactivation of maternal syphilis in the third trimenon even if the mother does not show any symptoms. In this case further serological tests in the prenatal care and careful examination of the newborn must be initiated.

  6. Congenital chloride diarrhea: late presentation

    OpenAIRE

    Al Bishi, Laila; Mustafa,

    2011-01-01

    Laila Al Bishi1, Mustafa Al Toonisi2Pediatric Department, North West Armed Forces Hospital, Tabuk, Kingdom of Saudi ArabiaAbstract: We report the case of a male infant who presented with diarrhea at 6 months of age. He was failing to thrive, and biochemical investigation revealed hypokalemic hypochloremic metabolic alkalosis. Diagnosis of congenital chloride diarrhea was suspected and confirmed by the stool chloride result. He was started on high-dose sodium chloride and potassium chloride to...

  7. Congenital neuroblastoma with placental involvement

    OpenAIRE

    Kume, Ayako; Morikawa, Teppei; Ogawa, Makiko; Yamashita, Aki; Yamaguchi, Shunichi; Fukayama, Masashi

    2014-01-01

    We describe an extremely rare case of congenital neuroblastoma with placental involvement. A fetus with a left abdominal mass detected during ultrasonography at 23 weeks’ gestation developed hydrops fetalis by 26 weeks’ gestation. The mother developed hypertension at 26 5/7 weeks’ gestation. Based on a clinical diagnosis of pregnancy-induced hypertension, labor was induced at 26 6/7 weeks. However, intrauterine fetal death was diagnosed during delivery. Postmortern examination revealed a soli...

  8. Congenital unilateral hydrocephalus - CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Schulman, H.; Landau, D.; Schulman, P.; Hertzanu, Y

    2000-12-01

    Congenital unilateral hydrocephalus is extremely uncommon with 18 cases previously reported in the English literature. Two additional newborns with unilateral hydrocephalus are presented. The second baby also presented a mega cisterna magna. This unusual association between Dandy-Walker variant and unilateral hydrocephalus has not been previously reported. Following ventriculo-peritoneal shunt, the babies had a normal cognitive neurodevelopment. The role of cranial computed tomography (CT) in diagnosis and follow-up is emphasized.

  9. Congenital deficiency of factor VII.

    Science.gov (United States)

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  10. Congenital uronephropathy pattern in children

    Directory of Open Access Journals (Sweden)

    Husein Alatas

    2001-10-01

    Full Text Available To obtain the basic data of congenital uronephropathy pattern and the affecting factors in children, we conducted a cross-sectional study at the Department of Child Health Cipto Mangunkusumo (CM Hospital Jakarta from 1995 to 1999 and 9 teaching hospitals throughout Indonesia. During the study period 134 patients were obtained, 116 patients from the CM Hospital and 18 patients from other teaching hospitals. Most patients (48.8% were below 1 year of age; male were affected more than female (2.4:1. The disorder was classified into two groups, i.e., congenital nephropathy and uropathy. There were 10 children with nephropathy, i.e., 4 with unilateral renal hypoplasia, 3 with polycystic kidney, and 3 with renal agenesis. In the uropathy group, 43 were with hypospadia, 22 with primary reflux vesicoureter, 18 with neurogenic bladder, and 17 with ureteropelvic junction obstruction. The complications found were urinary tract infection (71.2%, chronic renal failure (15.7%, hypertension (3.7%, and acute renal failure (1.5%. Consanguinity, familial disorders, maternal diseases, x-ray exposure and abortion efforts were found in a small proportion of patients. History of drug or herbs use in the first trimester of pregnancy was found in a large proportion of patients, mostly took analgesics (especially acetaminophen. In conclusion, uropathy disorders were much more common than congenital nephropathy. The most common complication was urinary tract infection, followed by chronic renal failure, hypertension, and acute renal failure.

  11. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    Full Text Available Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II. In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down’s syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.

  12. [Congenital syphilis: incidence among newborns

    Science.gov (United States)

    Araújo, E C; Moura, E F; Ramos, F L; Holanda, V G

    1999-01-01

    OBJECTIVE: To determine the incidence of congenital syphilis among newborns at the maternity of a public hospital. METHODS: The study was conducted at the maternity of Fundação Santa Casa de Misericórdia do Pará, from May to September 1996; 361 mothers were interviewed, and physical examination was performed in their newborns. Serum samples from both, mothers and neonates, were tested using three methods: VDRL, FTA - Abs, ELISA IgM. The diagnosis of congenital syphilis was established according to the criteria defined by Ministério da Saúde in 1993. RESULTS: The rate of congenital syphilis was of 9.1% (33); in 14 cases, there were one or more signs of the disease: prematurity, hepatomegaly, stillbirth, splenomegaly, perinatal death, abdominal distention, nasal stuffiness, jaundice, newborn small for gestational age. The majority of the infected mothers belonged to the age group of 20-35 years (81.8%); 60.6% were married; 63.6% received prenatal care; 48.5% reported previous spontaneous abortion, and 12.1% previous stillbirth. The rate of bisexuality among fathers was of 9.1%. CONCLUSION: The syphilis control measures and the prenatal care, have not been sufficient to prevent the high rate of the disease.

  13. Reduction of Non-stationary Noise using a Non-negative Latent Variable Decomposition

    DEFF Research Database (Denmark)

    Schmidt, Mikkel Nørgaard; Larsen, Jan

    2008-01-01

    We present a method for suppression of non-stationary noise in single channel recordings of speech. The method is based on a non-negative latent variable decomposition model for the speech and noise signals, learned directly from a noisy mixture. In non-speech regions an over complete basis...... is learned for the noise that is then used to jointly estimate the speech and the noise from the mixture. We compare the method to the classical spectral subtraction approach, where the noise spectrum is estimated as the average over non-speech frames. The proposed method significantly outperforms...

  14. Association of congenital neuroblastoma and congenital heart disease. Is there a common embryologic basis

    Energy Technology Data Exchange (ETDEWEB)

    Bellah, R.; D' Andrea, A.; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma.

  15. Genetic Syndromes associated with Congenital Heart Disease

    OpenAIRE

    Ko, Jung Min

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy a...

  16. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-06-15

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

  17. 40 CFR 60.4305 - Does this subpart apply to my stationary combustion turbine?

    Science.gov (United States)

    2010-07-01

    ... stationary combustion turbine? 60.4305 Section 60.4305 Protection of Environment ENVIRONMENTAL PROTECTION... of Performance for Stationary Combustion Turbines Applicability § 60.4305 Does this subpart apply to my stationary combustion turbine? (a) If you are the owner or operator of a stationary combustion...

  18. Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review.

    Science.gov (United States)

    Matar, Hosam E; Garg, Neeraj K

    2016-03-01

    We present a unique case of a congenital hereditary common peroneal nerve neuropathy with congenital idiopathic congenital talipes equinovarus that had been treated with the Ponseti method with satisfactory outcome at 5-year follow-up, along with a literature review.

  19. Hyperuricaemia in congenital heart disease patients.

    Science.gov (United States)

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-01-01

    Hyperuricaemia is associated with traditional cardiovascular risk factors such as type 2 diabetes or dyslipidaemia and a higher mortality. Out of 528 congenital heart disease patients, 329 patients, including 190 male and 139 female patients, in whom uric acid determination was performed, were studied and followed up to determine survival. Male congenital heart disease patients with high serum uric acid concentrations (>7 mg/dl) showed significantly (p congenital heart disease patients with lower serum uric acid levels (≤7 mg/dl). Meanwhile, female congenital heart disease patients with higher serum uric acid concentrations (>5.7 mg/dl) were significantly (p congenital heart disease patients with lower serum uric acid concentrations (≤5.7 mg/dl). During a median follow-up of 90 months, 16 out of 528 congenital heart disease patients died - 14 patients of cardiac origin and two patients of non-cardiac origin - of whom 10 were hypoxaemic. Kaplan-Meier analysis showed no significant differences in mortality between male and female congenital heart disease patients with high and low serum uric acid level concentrations. Hypoxaemia, body mass index, and C-reactive protein concentrations are higher in hyperuricaemic congenital heart disease patients, although no significant differences were seen in mortality between congenital heart disease patients with high and low serum uric acid concentrations.

  20. History of the Congenital Heart Surgeons' Society.

    Science.gov (United States)

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society. © The Author(s) 2015.

  1. The Danish Register of Congenital Heart Disease.

    Science.gov (United States)

    Olsen, Morten; Videbæk, Jørgen; Johnsen, Søren Paaske

    2011-07-01

    Congenital heart defects (CHD) constitute the largest group of congenital defects with a prevalence at birth of 5-11 per 1000 live births, and the population of adults with CHD is increasing. However, few population-based long-term outcome data exist. The Danish Register of Congenital Heart Disease holds data on patients diagnosed with CHD since 1963 and patients below 25 years of age with other types of heart disease. Overall and defect specific validation is ongoing. Together with other Danish registers, the Danish Register of Congenital Heart Disease provides extensive research possibilities.

  2. Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study.

    Directory of Open Access Journals (Sweden)

    Danielle Di Cavalcanti

    Full Text Available To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome.An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP, Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15 examination was performed on all infants.14/103 (13.5% echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus.Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant.

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

    Science.gov (United States)

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

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  4. Abnormalities associated with congenital scoliosis: a retrospective study of 226 Chinese surgical cases.

    Science.gov (United States)

    Shen, Jianxiong; Wang, Zijia; Liu, Jiaming; Xue, Xuhong; Qiu, Guixing

    2013-05-01

    Retrospective study of a series of 226 consecutive Chinese patients with congenital scoliosis. To identify the incidence of intraspinal abnormalities and other organ defects in surgical patients with congenital scoliosis in Chinese population. Previous studies have revealed high rates of intraspinal anomalies and other organ defects in patients with congenital scoliosis. The incidence of abnormalities in patients with congenital scoliosis in Chinese population has not been reported. A total of 226 patients with congenital scoliosis underwent surgical treatment in Peking Union Medical College Hospital between January 2005 and March 2011 were identified. A definitive diagnosis of congenital scoliosis for all patients was made. Complete data were reviewed, including medical records, plain radiograph, magnetic resonance (MR) image of the whole spine, echocardiography, and renal ultrasound. The incidence of intraspinal abnormalities and other organ defects were analyzed. Intraspinal abnormalities were found in 99 (43%) patients. Diastematomyelia was identified to be the most common intraspinal pathological anomaly, which was different from the previous reports. The incidence of intraspinal anomaly in patients with failures of segmentation and mixed defects were significantly higher than those with failures of formation. Patients with thoracic hemivertebrae were found to have a higher incidence of intraspinal abnormalities than patients with lumbar hemivertebrae. Patients with intraspinal abnormality had a higher incidence of positive clinical findings than those with normal magnetic resonance imaging. However, the difference between the 2 groups was not statistically significant. Other organic defects were found in 91(40%) patients. Cardiac defects were detected in 18%, urogenital anomalies in 12%, and gastrointestinal anomalies in 5% of the patients in this study. Diastematomyelia was found to be the most common intraspinal pathological anomaly and cardiac defects were

  5. [Analysis of 180 patients with sensory defect nystagmus (SDN) and congenital idiopathic nystagmus (CIN)].

    Science.gov (United States)

    Lorenz, B; Gampe, E

    2001-01-01

    Analysis of the diseases underlying congenital nystagmus in a series of patients registered during 6 years as a prerequisite for adequate counselling of the families. Retrospective study of all patients that presented between 1992 and 1998 with congenital nystagmus not related to visual deprivation or acquired pathologies of the visual pathways. The patients were examined clinically and in dependence on the findings also by electrophysiological (Ganzfeld ERG and VEP, Albino-flash-VEP), psychophysical (colour vision, dark adaptation, spectral sensitivity), and molecular genetic methods. When estimated necessary, family members affected by history and unaffected family members were also examined. In cases of complex neuroophthalmological diseases a neuropaediatric examination including neuroimaging was initiated. In total, 180 patients could be analysed. A sensory defect nystagmus (SDN) was present in 142 patients (79%). The diagnoses were as follows: albinism (any form) in 56 patients (30%), progressive photoreceptor dystrophy in 20 patients (11%), stationary cone dysfunction in 18 patients (10%), bilateral optic nerve hypoplasia in 15 patients (8%), chorioretinal or optic nerve colobomata in 10 patients (6%), aniridia and its variants in 10 patients (6%), familial isolated nystagmus in 8 patients (5%), and congenital stationary night blindness in 5 patients (3%). 38 patients (21%) could not (yet) be classified. The prevalence of SDN as the manifesting symptom of a variety of well defined diseases in the present series of at least 79% is similar to that of 90% reported earlier. The precise diagnosis is a prerequisite for counselling the families as to functional prognosis and recurrence risk. Unnecessary neurological examinations including neuroimaging can be avoided.

  6. Non-Stationary Dependence Structures for Spatial Extremes

    KAUST Repository

    Huser, Raphaël

    2016-03-03

    Max-stable processes are natural models for spatial extremes because they provide suitable asymptotic approximations to the distribution of maxima of random fields. In the recent past, several parametric families of stationary max-stable models have been developed, and fitted to various types of data. However, a recurrent problem is the modeling of non-stationarity. In this paper, we develop non-stationary max-stable dependence structures in which covariates can be easily incorporated. Inference is performed using pairwise likelihoods, and its performance is assessed by an extensive simulation study based on a non-stationary locally isotropic extremal t model. Evidence that unknown parameters are well estimated is provided, and estimation of spatial return level curves is discussed. The methodology is demonstrated with temperature maxima recorded over a complex topography. Models are shown to satisfactorily capture extremal dependence.

  7. Discriminative Non-Linear Stationary Subspace Analysis for Video Classification.

    Science.gov (United States)

    Baktashmotlagh, Mahsa; Harandi, Mehrtash; Lovell, Brian C; Salzmann, Mathieu

    2014-12-01

    Low-dimensional representations are key to the success of many video classification algorithms. However, the commonly-used dimensionality reduction techniques fail to account for the fact that only part of the signal is shared across all the videos in one class. As a consequence, the resulting representations contain instance-specific information, which introduces noise in the classification process. In this paper, we introduce non-linear stationary subspace analysis: a method that overcomes this issue by explicitly separating the stationary parts of the video signal (i.e., the parts shared across all videos in one class), from its non-stationary parts (i.e., the parts specific to individual videos). Our method also encourages the new representation to be discriminative, thus accounting for the underlying classification problem. We demonstrate the effectiveness of our approach on dynamic texture recognition, scene classification and action recognition.

  8. Recent development of ionic liquid stationary phases for liquid chromatography.

    Science.gov (United States)

    Shi, Xianzhe; Qiao, Lizhen; Xu, Guowang

    2015-11-13

    Based on their particular physicochemical characteristics, ionic liquids have been widely applied in many fields of analytical chemistry. Many types of ionic liquids were immobilized on a support like silica or monolith as stationary phases for liquid chromatography. Moreover, different approaches were developed to bond covalently ionic liquids onto the supporting materials. The obtained ionic liquid stationary phases show multi-mode mechanism including hydrophobic, hydrophilic, hydrogen bond, anion exchange, π-π, and dipole-dipole interactions. Therefore, they could be used in different chromatographic modes including ion-exchange, RPLC, NPLC and HILIC to separate various classes of compounds. This review mainly summarizes the immobilized patterns and types of ionic liquid stationary phases, their retention mechanisms and applications in the recent five years. Copyright © 2015 Elsevier B.V. All rights reserved.

  9. Non-Stationary Internal Tides Observed with Satellite Altimetry

    Science.gov (United States)

    Ray, Richard D.; Zaron, E. D.

    2011-01-01

    Temporal variability of the internal tide is inferred from a 17-year combined record of Topex/Poseidon and Jason satellite altimeters. A global sampling of along-track sea-surface height wavenumber spectra finds that non-stationary variance is generally 25% or less of the average variance at wavenumbers characteristic of mode-l tidal internal waves. With some exceptions the non-stationary variance does not exceed 0.25 sq cm. The mode-2 signal, where detectable, contains a larger fraction of non-stationary variance, typically 50% or more. Temporal subsetting of the data reveals interannual variability barely significant compared with tidal estimation error from 3-year records. Comparison of summer vs. winter conditions shows only one region of noteworthy seasonal changes, the northern South China Sea. Implications for the anticipated SWOT altimeter mission are briefly discussed.

  10. Non-Stationary Dark Energy Around a Black Hole

    CERN Document Server

    Akhoury, Ratindranath; Saotome, Ryo; Vikman, Alexander

    2011-01-01

    Numerical simulations of the accretion of test scalar fields with non-standard kinetic terms (of the k-essence type) onto a Schwarzschild black hole are performed. We find a full dynamical solution for the spherical accretion of a Dirac-Born-Infeld type scalar field. The simulations show that the accretion eventually settles down to a well known stationary solution. This particular analytical steady state solution maintains two separate horizons. The standard horizon is for the usual particles propagating with the limiting speed of light, while the other sonic horizon is for the k-essence perturbations propagating with the speed of sound around this accreting background. For the case where the k-essence perturbations propagate superluminally, we show that one can send signals from within a black hole during the approach to the stationary solution. We also find that a ghost condensate model settles down to a stationary solution during the accretion process.

  11. On Maximal Hard-Core Thinnings of Stationary Particle Processes

    Science.gov (United States)

    Hirsch, Christian; Last, Günter

    2017-12-01

    The present paper studies existence and distributional uniqueness of subclasses of stationary hard-core particle systems arising as thinnings of stationary particle processes. These subclasses are defined by natural maximality criteria. We investigate two specific criteria, one related to the intensity of the hard-core particle process, the other one being a local optimality criterion on the level of realizations. In fact, the criteria are equivalent under suitable moment conditions. We show that stationary hard-core thinnings satisfying such criteria exist and are frequently distributionally unique. More precisely, distributional uniqueness holds in subcritical and barely supercritical regimes of continuum percolation. Additionally, based on the analysis of a specific example, we argue that fluctuations in grain sizes can play an important role for establishing distributional uniqueness at high intensities. Finally, we provide a family of algorithmically constructible approximations whose volume fractions are arbitrarily close to the maximum.

  12. Inference for local autocorrelations in locally stationary models.

    Science.gov (United States)

    Zhao, Zhibiao

    2015-04-01

    For non-stationary processes, the time-varying correlation structure provides useful insights into the underlying model dynamics. We study estimation and inferences for local autocorrelation process in locally stationary time series. Our constructed simultaneous confidence band can be used to address important hypothesis testing problems, such as whether the local autocorrelation process is indeed time-varying and whether the local autocorrelation is zero. In particular, our result provides an important generalization of the R function acf() to locally stationary Gaussian processes. Simulation studies and two empirical applications are developed. For the global temperature series, we find that the local autocorrelations are time-varying and have a "V" shape during 1910-1960. For the S&P 500 index, we conclude that the returns satisfy the efficient-market hypothesis whereas the magnitudes of returns show significant local autocorrelations.

  13. Pentalogy of Cantrell; complete expression in a nine‑month‑old‑boy ...

    African Journals Online (AJOL)

    Pentalogy of Cantrell; complete expression in a nine‑month‑old‑boy. Ibrahim Aliyu, Mohammad Aminu Mohammad. Abstract. Pentalogy of Cantrell is a rare congenital malformation whose exact cause is not completely understood; it is characterized by defects in the anterior abdominal and thoracic walls consisting of ...

  14. Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

    Science.gov (United States)

    Gerber, Sylvie; Hanein, Sylvain; Perrault, Isabelle; Delphin, Nathalie; Aboussair, Nisrine; Leowski, Corinne; Dufier, Jean-Louis; Roche, Olivier; Munnich, Arnold; Kaplan, Josseline; Rozet, Jean-Michel

    2007-12-01

    Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and are responsible for a congenital severe stationary cone-rod dystrophy (Type I, 60% of LCA) while the seven remaining genes account for 32% of patients and are responsible for a progressive yet severe rod-cone dystrophy (Type II, 40% of LCA ). Recently, mutations in LCA5, encoding the ciliary protein lebercilin, were reported to be a rare cause of leber congenital amaurosis. The purpose of this study was to evaluate the involvement of this novel gene and to look for genotype-phenotype correlations. Here we report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in our series (3/179; 1.7%). Besides, we suggest that the phenotype of these patients affected with a particularly severe form of LCA type II may represent a continuum with LCA type I. (c) 2007 Wiley-Liss, Inc.

  15. Simulation of dust streaming in toroidal traps: Stationary flows

    Energy Technology Data Exchange (ETDEWEB)

    Reichstein, Torben; Piel, Alexander [IEAP, Christian-Albrechts-Universitaet, D-24098 Kiel (Germany)

    2011-08-15

    Molecular-dynamic simulations were performed to study dust motion in a toroidal trap under the influence of the ion drag force driven by a Hall motion of the ions in E x B direction, gravity, inter-particle forces, and friction with the neutral gas. This article is focused on the inhomogeneous stationary streaming motion. Depending on the strength of friction, the spontaneous formation of a stationary shock or a spatial bifurcation into a fast flow and a slow vortex flow is observed. In the quiescent streaming region, the particle flow features a shell structure which undergoes a structural phase transition along the flow direction.

  16. EDITORIAL: CAMOP: Quantum Non-Stationary Systems CAMOP: Quantum Non-Stationary Systems

    Science.gov (United States)

    Dodonov, Victor V.; Man'ko, Margarita A.

    2010-09-01

    Although time-dependent quantum systems have been studied since the very beginning of quantum mechanics, they continue to attract the attention of many researchers, and almost every decade new important discoveries or new fields of application are made. Among the impressive results or by-products of these studies, one should note the discovery of the path integral method in the 1940s, coherent and squeezed states in the 1960-70s, quantum tunneling in Josephson contacts and SQUIDs in the 1960s, the theory of time-dependent quantum invariants in the 1960-70s, different forms of quantum master equations in the 1960-70s, the Zeno effect in the 1970s, the concept of geometric phase in the 1980s, decoherence of macroscopic superpositions in the 1980s, quantum non-demolition measurements in the 1980s, dynamics of particles in quantum traps and cavity QED in the 1980-90s, and time-dependent processes in mesoscopic quantum devices in the 1990s. All these topics continue to be the subject of many publications. Now we are witnessing a new wave of interest in quantum non-stationary systems in different areas, from cosmology (the very first moments of the Universe) and quantum field theory (particle pair creation in ultra-strong fields) to elementary particle physics (neutrino oscillations). A rapid increase in the number of theoretical and experimental works on time-dependent phenomena is also observed in quantum optics, quantum information theory and condensed matter physics. Time-dependent tunneling and time-dependent transport in nano-structures are examples of such phenomena. Another emerging direction of study, stimulated by impressive progress in experimental techniques, is related to attempts to observe the quantum behavior of macroscopic objects, such as mirrors interacting with quantum fields in nano-resonators. Quantum effects manifest themselves in the dynamics of nano-electromechanical systems; they are dominant in the quite new and very promising field of circuit

  17. Laboratory Diagnosis of Congenital Toxoplasmosis

    Science.gov (United States)

    Pomares, Christelle

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  18. Congenital Defects in Neutrophil Dynamics

    Directory of Open Access Journals (Sweden)

    Marton Keszei

    2014-01-01

    Full Text Available Neutrophil granulocytes are key effector cells of the vertebrate immune system. They represent 50–70% of the leukocytes in the human blood and their loss by disease or drug side effect causes devastating bacterial infections. Their high turnover rate, their fine-tuned killing machinery, and their arsenal of toxic vesicles leave them particularly vulnerable to various genetic deficiencies. The aim of this review is to highlight those congenital immunodeficiencies which impede the dynamics of neutrophils, such as migration, cytoskeletal rearrangements, vesicular trafficking, and secretion.

  19. Congenital Diverticular Disease of the Entire Colon

    Directory of Open Access Journals (Sweden)

    A. Patel

    2013-01-01

    Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

  20. Congenital Malaria Among Newborns Admitted for Suspected ...

    African Journals Online (AJOL)

    None of the clinical feature had good sensitivity, specificity or predictive value for congenital malaria, and only 1.6% death was recorded in a baby with high parasite density. Conclusion: Congenital malaria is common in newborns with suspected neonatal sepsis. History of peripartum pyrexia, prematurity and intrauterine ...

  1. Operative management of congenital talipes equinovarus deformity ...

    African Journals Online (AJOL)

    Background: Congenital talipes equinovarus is the most common congenital anomaly of the foot and ankle. The prevalence of this condition in our environment is not known due to dearth of medical literature on the subject. The aim of this study was to determine the outcome of our operative management of resistant talipes ...

  2. Surgery in adults with congenital heart disease

    NARCIS (Netherlands)

    Zomer, A. C.; Verheugt, C. L.; Vaartjes, I.; Uiterwaal, C. S. P. M.; Langemeijer, M. M.; Koolbergen, D. R.; Hazekamp, M. G.; van Melle, J. P.; Konings, T. C.; Bellersen, L.; Grobbee, D. E.; Mulder, B. J. M.

    2011-01-01

    A significant proportion of patients with congenital heart disease require surgery in adulthood. We aimed to give an overview of the prevalence, distribution, and outcome of cardiovascular surgery for congenital heart disease. We specifically questioned whether the effects of surgical treatment on

  3. Socio-occupational status and congenital anomalies

    DEFF Research Database (Denmark)

    Varela, María M Morales-Suárez; Nohr, Ellen Aagaard; Llopis-González, Agustin

    2009-01-01

    The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring.......The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring....

  4. Echocardiography Findings in Clinically Confirmed Congenital ...

    African Journals Online (AJOL)

    Background: Congenital rubella syndrome (CRS) is known to affect thousands of children in the developing world because rubella vaccination is not available routinely in most of these countries. Among its many manifestations only congenital heart disease is life threatening. This study was undertaken to ascertain the ...

  5. The changing epidemiology of congenital heart disease

    NARCIS (Netherlands)

    van der Bom, Teun; Zomer, A. Carla; Zwinderman, Aeilko H.; Meijboom, Folkert J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart

  6. Cardiac Biomarkers in Adult Congenital Heart Disease

    NARCIS (Netherlands)

    J.A. Eindhoven (Jannet)

    2015-01-01

    markdownabstract__Abstract__ Congenital heart disease (ConHD) is the most common congenital abnormality in newborns, with a birth prevalence of 9 per 1000 live births.2 ConHD comprises a number of cardiac abnormalities with varying aetiology which can be divided into simple, moderate and

  7. Nutritional treatment of congenital heart disease.

    OpenAIRE

    Bougle, D; Iselin, M; Kahyat, A; Duhamel, J F

    1986-01-01

    Twelve of 13 patients with congenital heart disease given continuous enteral nutrition displayed normal growth; cardiac function remained stable or improved in 10 in spite of the water load (146 +/- 22 ml/kg/day). This is safe treatment for malnutrition in congenital heart disease.

  8. Congenital heart defects in Kabuki syndrome.

    Science.gov (United States)

    Yuan, Shi-Min

    2013-01-01

    Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenital heart defects in the patients with KS were summarized. Congenital heart defects were one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. Left-sided obstructions/aortic dilation and septal defects were the fi rst two types of anomalies, accounting up to 46.1% and 32.9%, respectively. The most common congenital heart defects were coarctation of the aorta, and atrial and ventricular septal defects. Fifteen (19.7%) patients received surgical repair of congenital heart defects at a mean age of 0.8 ± 1.3 years. Congenital heart defects are one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. About 20% of the patients warranted surgical repair of the heart defects. Patients with KS require close follow-up in terms of their etiology, clinical presentations and long-term prognosis.

  9. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    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.

  10. Congenital malformations among newborns in Kenya | Muga ...

    African Journals Online (AJOL)

    Available literature suggests that congenital malformations are a major cause of prenatal infant deaths and postnatal physical defects [1, 2]. Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing ...

  11. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was used to assess mortality

  12. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2014-11-01

    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.

  13. Primary congenital hypothyroidism complicated by persistent severe ...

    African Journals Online (AJOL)

    2013-12-24

    Dec 24, 2013 ... Case Study: Primary congenital hypothyroidism complicated by persistent severe anaemia in early infancy. 85. 2014 Volume 19 No 2. JEMDSA. Introduction. Although anaemia is a common finding in adults with hypothyroidism, there is a general paucity of studies on anaemia in infants with congenital ...

  14. Genetics Home Reference: congenital nephrotic syndrome

    Science.gov (United States)

    ... condition may be environmental, including infections such as congenital syphilis or toxoplasmosis, or it may be caused by mutations in unidentified genes. Learn more about the genes associated with congenital nephrotic syndrome LAMB2 NPHS1 NPHS2 PLCE1 WT1 Related ...

  15. Congenital hypothyroidism presenting as menorrhagia in adulthood.

    Science.gov (United States)

    Kumar, Sadish; Mahesh, D M; Vignesh, G; Sagili, Haritha; Dhanapathi, H; Hamide, Abdoul

    2013-09-01

    Although hypothyroidism is a common cause of menorrhagia, it is an uncommon presentation of congenital hypothyroidism. We report a case of congenital hypothyroidism presenting in adulthood with severe menorrhagia. Despite the late presentation, she had features to suggest hypothyroidism since birth.

  16. An unusual presentation of congenital bronchoesophageal fistula ...

    African Journals Online (AJOL)

    An unusual presentation of congenital bronchoesophageal fistula. OM Atalabi, AG Falade, OM Obajimi, OO Akinyinka, SB Lagundoye, PO Ibinaiye. Abstract. We present the case of a 5-week-old neonate with multiple congenital abnormalities including a broncho-oesophageal fistula, which showed radiological features ...

  17. Polyhydramnios Associated with Multiple Congenital Malformations ...

    African Journals Online (AJOL)

    A case of polyhydramnios associated with multiple congenital abnormalities in the fetus of a 25 year old primigravida, at 33 weeks gestation is reported. She presented with complaint of excessive abdominal distension and ultrasound scan revealed severe polyhydramnios (AFI 46.1cm) with multiple congenital ...

  18. Cyanotic congenital heart disease and atherosclerosis

    DEFF Research Database (Denmark)

    Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas

    2017-01-01

    Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether...

  19. Le glaucome congenital au Centre National Hospitalouniversitaire ...

    African Journals Online (AJOL)

    ... was found in 19.6% of cases. For the management, it was surgical. Conclusion: Genetic counseling to future husband, the early diagnosis and treatment are essential to reduce the frequency of congenital glaucoma. Keywords: Congenital glaucoma, megalocornea, high intra-ocular pressure, buphthalmos, trabeculectomy ...

  20. Multiple congenital defects in a newborn foal

    Directory of Open Access Journals (Sweden)

    J.F. Silva

    2014-12-01

    Full Text Available A case of multiple congenital defects in a newborn foal is reported. The animal showed hypoplasia of the left pelvic limb bones, uterus unicornis, congenital diaphragmatic hernia, and unilateral renal and ureteral agenesis. This report includes the macroscopic and microscopic lesions observed in the case.

  1. Congenital rubella syndrome and delayed manifestations

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2010-01-01

    Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....

  2. 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...

  3. Acute cervical fracture or congenital spinal deformity?

    Science.gov (United States)

    Harrop, James S; Jeyamohan, Shiveindra; Sharan, Ashwini; Ratliff, John; Flanders, Adam; Maltenfort, Mitchell; Falowski, Stephen; Vaccaro, Alexander

    2008-01-01

    There are few reports of developmental or congenital cervical spinal deformities. Such cases may be mistaken for traumatically induced fractures, and additional treatment may ensue. A retrospective analysis was performed to identify patients with congenital cervical spine deformities. These patients were matched with a confirmed traumatic spinal fracture population with similar demographic features. Patients were analyzed for age, gender, imaging findings (plain roentgenograms including dynamic flexion and extension views, computed tomography scan, and MRI), neurologic status, and subjective complaints of pain. Thirty-six individuals were included in the final analysis, 7 with congenital abnormalities and 29 with radiographically confirmed traumatic injuries. Patients with congenital abnormalities had significantly less soft-tissue swelling compared with the population with traumatic fractures (P spinal deformity (congenital vs traumatic).

  4. Acute Cervical Fracture or Congenital Spinal Deformity

    Science.gov (United States)

    Harrop, James S; Jeyamohan, Shiveindra; Sharan, Ashwini; Ratliff, John; Flanders, Adam; Maltenfort, Mitchell; Falowski, Stephen; Vaccaro, Alexander

    2008-01-01

    Background/Objective: There are few reports of developmental or congenital cervical spinal deformities. Such cases may be mistaken for traumatically induced fractures, and additional treatment may ensue. Methods: A retrospective analysis was performed to identify patients with congenital cervical spine deformities. These patients were matched with a confirmed traumatic spinal fracture population with similar demographic features. Patients were analyzed for age, gender, imaging findings (plain roentgenograms including dynamic flexion and extension views, computed tomography scan, and MRI), neurologic status, and subjective complaints of pain. Results: Thirty-six individuals were included in the final analysis, 7 with congenital abnormalities and 29 with radiographically confirmed traumatic injuries. Patients with congenital abnormalities had significantly less soft-tissue swelling compared with the population with traumatic fractures (P spinal deformity (congenital vs traumatic). PMID:18533417

  5. Health in adults with congenital heart disease.

    Science.gov (United States)

    Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  6. Congenital heart disease in the newborn requiring early intervention

    Directory of Open Access Journals (Sweden)

    Sin Weon Yun

    2011-05-01

    Full Text Available Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA, critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS, obstructed total anomalous pulmonary venous return (TAPVR, which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.

  7. [Congenital buried penis in children].

    Science.gov (United States)

    Lardellier-Reynaud, F; Varlet, F; François, M; Mouriquand, P

    2011-10-01

    Congenital buried penis in children is an uncommon and poorly known entity. The aims of this study were to report an original technique for correction of buried penis and to evaluate its results. It is a retrospective study of buried penis operated between November 1998 and May 2009. The acquired concealed penis and hypospadias were excluded from this study. The procedure includes several stages: degloving of the penis through a ventral anchor-like incision; division of the adherent layers surrounding the corpora cavernosa; anchorage of the Buck's fascia to the corporeal albuginea at the base of the penis; and ventral cutaneous coverage. The long-term results were evaluated by the parents and the surgeon according to anatomical, functional and aesthetic criterion. Twenty-five boys were evaluated. The mean age at surgery was 27 months (seven days-120 months). Two children required an additional plasty. Results were satisfactory in 24 cases (96%). One child required a redo procedure for unsatisfactory outcome. Of seven children with redundant skin (28%), three underwent a complementary cutaneous excision. Congenital buried penis remains a controversial issue. Our technique was simple and easily reproducible. Voiding difficulties, urinary tract infection or strong parental request were the main indications of this surgery in our experience. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  8. [Congenital malformations in teenage pregnancy].

    Science.gov (United States)

    Sirakov, M

    2012-01-01

    This review brings clear evidence of a link between the young maternal age and the higher incidence of complications recorded, both during pregnancy and during labor. It was found that pregnancy in very young age was associated with increased risk of fetal abnormalities affecting the central nervous system, gastrointestinal and muscles-skeletal system. The anomalies of the central nervous system were most commonly found. They were not severe. A higher incidence of birth of babies with neural tube defects or congenital heart diseases was registered. The reasons for the observed anomalies in early pregnancy remain unclear. There is insufficient information about the link between congenital anomalies and use of tobacco or alcohol use by very young mothers. Some correlations were registered between risk factors such as body mass index before pregnancy, the folic acid and other multivitamin needs before and during pregnancy, as well as social factors such as lack of support, isolation from peers and/or family, financial pressures, social attitudes, etc.

  9. Long-term effects of congenital hearing impairment on language performance in adults

    NARCIS (Netherlands)

    Huysmans, E.; de Jong, J.; van Lanschot-Wery, J.H.; Festen, J.M.; Goverts, S.T.

    2014-01-01

    Aim The aim of this study was to examine long-term effects of moderate to severe congenital hearing impairment (MSCHI) at an age when language development is completed, i.e., in adults. Method We studied language performance in Dutch in 10 normal-hearing (NH) adults and 20 adults with MSCHI, using

  10. Congenital arteriovenous fistula between the internal mammary artery and the pulmonary artery

    NARCIS (Netherlands)

    P.W.J.C. Serruys (Patrick); H. van Meurs-van Woezik

    1984-01-01

    textabstractThis is the fourth reported case of congenital arteriovenous fistula between the internal mammary artery and pulmonary artery. Precise and complete diagnostic evaluation is required to localize, delineate and appreciate the haemodynamic significance of this type of arteriovenous shunt. A

  11. Congenital versus Regressive Onset of Autism Spectrum Disorders: Parents' Beliefs about Causes

    Science.gov (United States)

    Goin-Kochel, Robin P.; Myers, Barbara J.

    2005-01-01

    Recent studies have validated the phenomenon of autistic regression, but little is known about how regressive and congenital onsets of the disorder influence parents' thinking about autism and its etiology. Parents (N = 327) of children with autism spectrum disorders completed an online questionnaire about their children's development.…

  12. Transumbilical laparoscopic treatment of Congenital Infantile Fibrosarcoma of the Ileum

    Directory of Open Access Journals (Sweden)

    G. Scirè

    2014-08-01

    Full Text Available Congenital-Infantile Fibrosarcoma (CIF is a malignant mesenchymal tumor representing 10-20% of soft-tissue tumors. Complete surgical resection is generally the treatment of choice. The most recurrent cytogenetic abnormality was identified as the traslocation t(12;15(p13:q25, which bears the fusion of Tel gene EVT6 with TrkC gene. This study describes a case of infantile fibrosarcoma of the ileum in a female newborn examined for intestinal occlusion and its laparoscopic treatment.

  13. Stationary and oscillatory flow through coarse porous media

    NARCIS (Netherlands)

    Van Gent, M.R.A.

    1993-01-01

    Measurements in a U-tube tunnel were carried out to study flow through coarse granular material. Tests with stationary flow and tests with oscillatory flow were done to study the differences between both. The coefficients from the extended Forchheimer equation, which is supposed to describe

  14. Stationary flow solution for water levels in open channels

    NARCIS (Netherlands)

    Opheusden, van J.H.J.; Molenaar, J.; Beltman, W.H.J.; Adriaanse, P.I.

    2010-01-01

    We study stationary flow in open discharge channels. A model is derived from basic principles, which is solved numerically for the water level and discharge as a function of position along the channel. The model describes the effect of external inflow from fields adjacent to the channel. Several

  15. Detection of Multiple Stationary Humans Using UWB MIMO Radar

    Directory of Open Access Journals (Sweden)

    Fulai Liang

    2016-11-01

    Full Text Available Remarkable progress has been achieved in the detection of single stationary human. However, restricted by the mutual interference of multiple humans (e.g., strong sidelobes of the torsos and the shadow effect, detection and localization of the multiple stationary humans remains a huge challenge. In this paper, ultra-wideband (UWB multiple-input and multiple-output (MIMO radar is exploited to improve the detection performance of multiple stationary humans for its multiple sight angles and high-resolution two-dimensional imaging capacity. A signal model of the vital sign considering both bi-static angles and attitude angle of the human body is firstly developed, and then a novel detection method is proposed to detect and localize multiple stationary humans. In this method, preprocessing is firstly implemented to improve the signal-to-noise ratio (SNR of the vital signs, and then a vital-sign-enhanced imaging algorithm is presented to suppress the environmental clutters and mutual affection of multiple humans. Finally, an automatic detection algorithm including constant false alarm rate (CFAR, morphological filtering and clustering is implemented to improve the detection performance of weak human targets affected by heavy clutters and shadow effect. The simulation and experimental results show that the proposed method can get a high-quality image of multiple humans and we can use it to discriminate and localize multiple adjacent human targets behind brick walls.

  16. Study of control problems for the stationary MHD equations

    Science.gov (United States)

    Brizitskii, R. V.

    2017-10-01

    The optimal control problems for the stationary magnetohydrodynamic equations under inhomogeneous mixed boundary conditions for a magnetic field are considered. The role of control in control xs under study is played by normal component of the magnetic field on the part of the boundary. In the capacity of cost fucntionals quadratic tracking–type functionals for a velocity, magnetic field or pressure are taken.

  17. Variance-optimal hedging for processes with stationary independent increments

    DEFF Research Database (Denmark)

    Hubalek, Friedrich; Kallsen, J.; Krawczyk, L.

    We determine the variance-optimal hedge when the logarithm of the underlying price follows a process with stationary independent increments in discrete or continuous time. Although the general solution to this problem is known as backward recursion or backward stochastic differential equation, we...

  18. Stationary wave patterns in deep water | Doyle | Quaestiones ...

    African Journals Online (AJOL)

    ship" or an obstacle in a stream, is revisited. The wave patterns are calculated using the results of the method of stationary phase. This allows for an elegant geometrical construction in which the reciprocal polar of the wave normal diagram ...

  19. Cointegration and Econometric Analysis of Non-Stationary Data in ...

    African Journals Online (AJOL)

    This is in conformity with the philosophy underlying the cointegration theory. Therefore, ignoring cointegration in non-stationary time series variables could lead to misspecification of the underlying process in the determination of corporate income tax in Nigeria. Thus, the study conclude that cointegration is greatly enhanced ...

  20. The stability of stationary rotation of a regular vortex polygon.

    Science.gov (United States)

    Kurakin, L. G.; Yudovich, V. I.

    2002-09-01

    This paper is devoted to the Lord Kelvin's (1878) problem on stability of the stationary rotation of the system of n equal vortices located in the vertices of a regular n-gon. During the last decades this problem again became actual in connection with the investigation of point vortices in liquid helium and electron columns in plasma physics. This regime is described by the explicit solution of the Kirchhoff equations. The corresponding eigenvalue problem for the linearization matrix can be also decided explicitly. This was used in the works of Thomson (1883) and Havelock (1931) to obtain exhaustive results on the linear stability. Kurakin (1994) proved that for n/=8 it is unstable. We also present the general theory of stationary motions of a dynamical system with symmetry group. The definitions of stability and instability are necessary to modify in the specific case of stationary regimes. We do not assume that the system is conservative. Thus, the results can be applied not only to various stationary regimes of an ideal fluid flows but, for instance, also to motions of viscous fluids. (c) 2002 American Institute of Physics.

  1. Stationary-state mutagenesis in Escherichia coli: a model

    Indian Academy of Sciences (India)

    Stationary-phase mutagenesis in nondividing E. coli cells exposed to a nonlethal stress was, a few years ago, claimed to be a likely case of a Lamarckian mechanism capable of producing exclusively useful mutations in a directed manner. After a heated debate over the last decade it now appears to involve a Darwinian ...

  2. On the generation techniques of axially symmetric stationary metrics

    Indian Academy of Sciences (India)

    General relativity; Einstein's equations; relation between solution generating techniques; soliton technique; method of Gutsunaev–Manko. ... and the soliton technique (for two-soliton solutions) of Belinskii–Zakharov, for generating solutions of axially symmetric stationary space-times in general relativity is discussed.

  3. Stationary space-periodic structures with equal diffusion coefficients

    DEFF Research Database (Denmark)

    Andresen, Peter Ragnar; Bache, Morten; Mosekilde, Erik

    1999-01-01

    The paper investigates a chemical reaction-diffusion model in an open flow system. It is shown that such a system may, with particular boundary conditions, exhibit stationary space-periodic structures even in the case of equal diffusion coefficients. This is confirmed through numerical simulations....

  4. Detection of Multiple Stationary Humans Using UWB MIMO Radar.

    Science.gov (United States)

    Liang, Fulai; Qi, Fugui; An, Qiang; Lv, Hao; Chen, Fuming; Li, Zhao; Wang, Jianqi

    2016-11-16

    Remarkable progress has been achieved in the detection of single stationary human. However, restricted by the mutual interference of multiple humans (e.g., strong sidelobes of the torsos and the shadow effect), detection and localization of the multiple stationary humans remains a huge challenge. In this paper, ultra-wideband (UWB) multiple-input and multiple-output (MIMO) radar is exploited to improve the detection performance of multiple stationary humans for its multiple sight angles and high-resolution two-dimensional imaging capacity. A signal model of the vital sign considering both bi-static angles and attitude angle of the human body is firstly developed, and then a novel detection method is proposed to detect and localize multiple stationary humans. In this method, preprocessing is firstly implemented to improve the signal-to-noise ratio (SNR) of the vital signs, and then a vital-sign-enhanced imaging algorithm is presented to suppress the environmental clutters and mutual affection of multiple humans. Finally, an automatic detection algorithm including constant false alarm rate (CFAR), morphological filtering and clustering is implemented to improve the detection performance of weak human targets affected by heavy clutters and shadow effect. The simulation and experimental results show that the proposed method can get a high-quality image of multiple humans and we can use it to discriminate and localize multiple adjacent human targets behind brick walls.

  5. Accumulation of hns mutations specifically in stationary phase in an ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 85; Issue 3. Accumulation of hns mutations specifically in stationary phase in an E. coli strain carrying an impaired rpoS locus. Stuti K. Desai S. Mahadevan. Research Note Volume 85 Issue 3 December 2006 pp 221-224 ...

  6. On the generation techniques of axially symmetric stationary metrics

    Indian Academy of Sciences (India)

    On the generation techniques of axially symmetric stationary metrics. S CHAUDHURI. Department of Physics, Gushkara Mahavidyalaya, Gushkara, Burdwan 713 128, India. Address for correspondence: Chaudhuri Lane, R.K. Palli, Badamtala, Burdwan 713 101, India. MS received 18 October 2000; revised 1 June 2001.

  7. Bipower variation for Gaussian processes with stationary increments

    DEFF Research Database (Denmark)

    Barndorff-Nielsen, Ole Eiler; Corcuera, José Manuel; Podolskij, Mark

    2009-01-01

    Convergence in probability and central limit laws of bipower variation for Gaussian processes with stationary increments and for integrals with respect to such processes are derived. The main tools of the proofs are some recent powerful techniques of Wiener/Itô/Malliavin calculus for establishing...

  8. Instabilities of stationary inviscid flow around an airfoil

    NARCIS (Netherlands)

    van Buuren, R.; Kuerten, Johannes G.M.; Geurts, Bernardus J.

    1997-01-01

    In this paper we numerically solve the stationary inviscid flow around an airfoil. Using the second-order explicit Runge¿Kutta method in combination with the MUSCL scheme and the minmod limiter, we do not obtain a machine accurate solution. This has already been observed in literature and is

  9. Energy identity for harmonic maps into standard stationary Lorentzian manifolds

    Science.gov (United States)

    Han, Xiaoli; Zhao, Liang; Zhu, Miaomiao

    2017-04-01

    For a harmonic map from a closed Riemann surface into a standard stationary Lorentzian manifold, we prove that its Hopf differential is holomorphic. Moreover, we prove that for a sequence of such maps with their energy uniformly bounded, the Lorentzian energy identity holds during the blow-up process.

  10. Accumulation of hns mutations specifically in stationary phase in an ...

    Indian Academy of Sciences (India)

    ditions for growth such as nutrient deprivation experienced during stationary ... taneous mutants that preexisted in the exponential-phase cul- ture used for plating. The same plates on further incubation. (96 h) gave rise to additional Bgl. + mutants that ... Landini 2004) we made use of an additional rpoS. + con- trol strain that ...

  11. Two Numerical Approaches to Stationary Mean-Field Games

    KAUST Repository

    Almulla, Noha

    2016-10-04

    Here, we consider numerical methods for stationary mean-field games (MFG) and investigate two classes of algorithms. The first one is a gradient-flow method based on the variational characterization of certain MFG. The second one uses monotonicity properties of MFG. We illustrate our methods with various examples, including one-dimensional periodic MFG, congestion problems, and higher-dimensional models.

  12. Ceramic stationary gas turbine development. Final report, Phase 1

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1994-09-01

    This report summarizes work performed by Solar Turbines Inc. and its subcontractors during the period September 25, 1992 through April 30, 1993. The objective of the work is to improve the performance of stationary gas turbines in cogeneration through implementation of selected ceramic components.

  13. Measure-valued differentiation for stationary Markov chains

    NARCIS (Netherlands)

    Heidergott, B.F.; Hordijk, A.; Weisshaupt, H.

    2006-01-01

    We study general state-space Markov chains that depend on a parameter, say, θ, Sufficient conditions are established for the stationary performance of such a Markov chain to be differentiable with respect to θ. Specifically, we study the case of unbounded performance functions and thereby extend the

  14. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-04-15

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

  15. [Surgical treatment of congenital mesoblastic nephroma].

    Science.gov (United States)

    Tejedor Sánchez, R; López Díaz, M; Cabezalí Barbancho, D; Gómez Fraile, A; López Vázquez, F; Aransay Bramtot, A; Cano Novillo, I

    2009-10-01

    Renal tumors are rare in infants less than 6 months of age, being congenital mesoblastic nephroma the most frecuent in this age group. We reported 4 cases treated in our hospital in the last years. We analyze age, sex, the clinical presentation as well as diagnosis and treatment. Range of age at diagnosis was 0-6 months. In our study the predominant sex was female. Clinical presentation was abdominal mass in all of cases with hypertension (HTA) in two of them. Scan ultrasound has been the method of dignostic, that was completed with Magnetic Resonance Imaging (MRI). The tretament was open surgery in three cases and laparoscopic on the last. All patients are alive with no evidence of disease. Low frecuency of this tumor limit the experience on diagnostic and treatment. Standard treatment is nephroureterectomy radical with free margins. Adjuvant therapy should be considered in recurrent disease although exists few studies. Laparoscopic surgery should be an alternative to clasical treatment since permits excision with good security margins.

  16. Congenital muscular dystrophy with inflammation: Diagnostic considerations

    Directory of Open Access Journals (Sweden)

    Kaumudi Konkay

    2016-01-01

    Full Text Available Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α 2 deficiency on immunohistochemistry (IHC. Material and Methods: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E, enzyme and immunohistochemistry (IHC with laminin α 2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α 2 deficiency. Results: There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α 2 was available in nine patients, of which six showed complete absence along sarcolemma (five presented with floppy infant syndrome and one with delayed motor milestones and three showed discontinuous, and less intense staining. Conclusions: CMD show variable degrees of inflammation on muscle biopsy. A diagnosis of laminin α 2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones.

  17. Latino College Completion: Hawaii

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  18. Latino College Completion: Alabama

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  19. Latino College Completion: Alaska

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  20. Prevalence of Congenital Heart Diseases in Children with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

    Full Text Available The aim of the work was to assess the prevalence of cardiac anomalies in primary congenital hypothyroidism (PCH patients. Fifty patients with PCH recruited after diagnosis by ultrasonography or scintigraphy (64% Dysgenesis, 36% Dyshormonogenesis. The prevalence of cardiac anomalies was 18%, with renal anomalies being 8%. There was no significant difference in the longitudinal follow-up of growth and sexual maturation between a hypothyroid with and without anomalies. Statistically significant difference was found with replacement therapy of both groups. Hence, echocardiography should be done to screen this birth defect as soon as possible so as to prevent or delay the possible complications. [Arch Clin Exp Surg 2013; 2(2.000: 85-91

  1. Thoracic injury metrics with side airbag: Stationary and dynamic occupants

    Science.gov (United States)

    Hallman, Jason J; Yoganandan, N; Pintar, Frank A

    2010-01-01

    Objective Injury risk from side airbag deployment has been assessed using stationary out-of-position occupant test protocols. However, stationary conditions may not always represent real world environments. Therefore, the objective of the present study was to evaluate the effects of torso side airbag deployment on close-proximity occupants, comparing a stationary test protocol with dynamic sled conditions. Methods Chest compression and viscous metrics were quantified from sled tests utilizing post-mortem human specimens and computational simulations with three boundary conditions: rigid wall, ideal airbag interaction, and close-proximity airbag deployment. PMHS metrics were quantified from chestband contour reconstructions. The parametric effect of ΔV on close-proximity occupant was examined with the computational model. Results PMHS injuries suggested close-proximity occupants may sustain visceral trauma, which was not observed in occupants subjected to rigid wall or ideal airbag boundary conditions. Peak injury metrics were also elevated with close-proximity occupant relative to other boundary conditions. The computational model indicated decreasing influence of airbag on compression metrics with increasing ΔV. Airbag influence on viscous metric was greatest with close-proximity occupant at ΔV = 7.0 m/s, at which the response magnitude was greater than linear summation of metrics resulting from rigid impact and stationary close-proximity interaction. Conclusions These results suggest that stationary close-proximity occupants may not represent the only scenario of side airbag deployment harmful to the thoracoabdominal region. The sensitivity of the viscous metric and implications for visceral trauma are also discussed. PMID:20730691

  2. Evaluation of the General Practice Research Database congenital heart defects prevalence: comparison to United Kingdom national systems.

    Science.gov (United States)

    Wurst, Keele E; Ephross, Sara A; Loehr, James; Clark, Douglas W; Guess, Harry A

    2007-04-01

    As part of an effort to validate the General Practice Research Database (GPRD) for future studies of medication use in pregnancy, this study examined whether the rates of all, and specific types of, congenital heart defects obtained from the GPRD are similar to those obtained from UK national systems. The prevalence rates of heart defects for 2001-2003 were determined from the GPRD and compared with both the National Congenital Anomaly System (NCAS) and the European Concerted Action of Congenital Anomalies and Twins (EUROCAT). Rate ratios (RRs) and 95% CIs were calculated comparing the prevalence of all congenital heart defects as well as specific types of heart defects in the three data sources. In addition, the effect of the child's age on the frequency of heart defects in the GPRD was determined. The prevalence of heart defects in the GPRD was more than twice as high as in the NCAS and slightly higher than in the EUROCAT. All differences were statistically significant. The prevalence of specific heart defects varied across the GPRD, NCAS, and EUROCAT. The measured prevalence of congenital heart defects in the GPRD was higher if calculated including children up to age 6. The comparisons of the GPRD prevalence rates to national prevalence estimates demonstrate that the GPRD can serve as a more complete source of background prevalence for the most commonly occurring congenital heart defects, which is essential to properly assess possible associations between maternal exposures and congenital heart defects.

  3. Sleep in infants with congenital heart disease.

    Science.gov (United States)

    Ykeda, Daisy Satomi; Lorenzi-Filho, Geraldo; Lopes, Antonio A B; Alves, Rosana S C

    2009-01-01

    To investigate hypoxia and sleep disordered breathing in infants with congenital heart disease. Prospective study. In-hospital full polysomnography was performed on 14 infants with congenital heart disease, age 7 +/-1 months, and in 7 normal infants, age 10 +/-2 months. Congenital heart disease infants were classified as acyanotic (n=7) or cyanotic (n=7). Nutritional status, assessed by the Gomez classification and expressed as % weight for age, was 70 +/-7, 59 +/-11 and 94 +/-16 in the acyanotic, cyanotic congenital heart disease and control infants, respectively (pcongenital heart disease infants (11 out of 14) and only one control infant had an AHI >1 event/hour. The minimum oxygen saturation was 79% (74-82), 73% (57-74) and 90% (90-91) in the acyanotic, cyanotic congenital heart disease infants and controls, respectively (p congenital heart disease frequently present with sleep-disordered breathing associated with oxygen desaturations but not arousals. Therefore, sleep may represent a significant burden to infants with congenital heart disease.

  4. Adult congenital heart disease: a growing epidemic.

    Science.gov (United States)

    Ávila, Pablo; Mercier, Lise-Andrée; Dore, Annie; Marcotte, François; Mongeon, François-Pierre; Ibrahim, Reda; Asgar, Anita; Miro, Joaquim; Andelfinger, Gregor; Mondésert, Blandine; de Guise, Pierre; Poirier, Nancy; Khairy, Paul

    2014-12-01

    Medical and surgical breakthroughs in the care of children born with heart defects have generated a growing population of adult survivors and spawned a new subspecialty of cardiology: adult congenital heart disease. The prevalence of adult congenital heart disease is escalating at a rampant rate, outpacing the relatively static prevalence of pediatric congenital heart disease, because adults now surpass children in numbers by a ratio of 2:1. As such, congenital heart disease can no longer be considered primarily a pediatric specialty. Most congenital heart defects are not curable and require lifelong specialized care. Health care systems worldwide are challenged to meet the unique needs of this increasingly complex patient population, including the development of supraregional centres of excellence to provide comprehensive and multidisciplinary specialized care. In this review, we explore the incidence and prevalence of congenital heart disease and their changing patterns, address organization and delivery of care, highlight the importance of appropriate training and dedicated research, summarize the high burden of health care resource utilization, and provide an overview of common issues encountered in adults with congenital heart disease. Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  5. Neonatal screening to detect critical congenital cardiac disease. A revolution in pediatrics

    Directory of Open Access Journals (Sweden)

    Vela Amieva Marcela

    2014-07-01

    Full Text Available There is solid evidence that demonstrate the usefulness of routine oxygen saturation testing in every apparently healthy newborn after 24 hours of life and before 48 hours. This procedure is known as “newborn screening for critical congenital heart disease” and serves to detect timely those congenital structural cardiac malformations with hypoxema, such as heart syndrome, pulmonary valve atresia, truncus arteriosus, total anomalous pulmonary vein connection, complete transposition of the great arteries, tetralogy of Fallot and tricuspid valve atresia. This test has been included in the mandatory neonatal screening panel of many countries and its generalization all over the world, seems imminent.

  6. Tibiofibular torsion in congenital clubfoot.

    Science.gov (United States)

    Farsetti, Pasquale; Dragoni, Massimiliano; Ippolito, Ernesto

    2012-01-01

    Tibiofibular torsion was measured by computed tomography in three series of patients affected by congenital clubfoot who were treated with different protocols. The normal leg of unilateral deformities served as the control. For the bilateral cases, only the right side was included in the study. The angle between the bicondylar axis of the tibia and the bimalleolar axis was the index of tibiofibular torsion. There were 34 clubfeet in the first series, treated with a posteromedial release, and 40 clubfeet in the second series, treated with a modified Ponseti method, whereas the third series included 16 clubfeet, treated with the original Ponseti method. All 90 clubfeet were graded at birth as group 3 according to the Manes classification. No patient had previous treatment. The patients of the first and the second series were followed up to maturity, whereas the patients of the third series were followed up to a maximum of 11 years of age. In the congenital clubfoot, the tibia and the fibula were externally rotated, in comparison with the normal leg; in fact, the average value of the angle of tibiofibular torsion was 32.2° in the first series, 23.9° in the second series, and 21.1° in the third series. In the normal tibiae, the average value of the angle of tibiofibular torsion was 21.4°. The difference between the first series and the normal controls was statistically significant, as was the difference between the first one and the other two series. The value of the tibiofibular torsion angle seems to be related to the manipulation technique used to treat clubfoot: when the manipulation does not allow a progressive eversion of the talus underneath the calcaneus, the external tibial torsion increases. At follow-up, an intoeing gait was present in seven treated clubfeet of the first series. In all of them except one, the highest value of the external tibial torsion angle was observed, with a low value of the Kite's angle and/or residual forefoot adduction. In the

  7. Imaging findings in congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Ferreira, Rafael Martins; Amaral, Lazaro L F; Gonçalves, Marcus V M; Lin, Katia

    2011-12-01

    In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal connections. The CCDDs include Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, horizontal gaze palsy with progressive scoliosis, the human homeobox-related disorders, pontine cap tegmental dysplasia, and an expanding list. The purpose of this review was to update the imaging features, as well as clinical and genetic information, regarding cases of CCDDs.

  8. [Sex differences in congenital heart disease].

    Science.gov (United States)

    Aubry, P; Demian, H

    2016-12-01

    Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  9. Congenital infantile fibrosarcoma of the lip.

    Science.gov (United States)

    Bellfield, Edward J; Beets-Shay, Linda

    2014-01-01

    Infantile congenital fibrosarcomas are rare neoplasms that usually present on the extremities, and although they are locally invasive, they rarely metastasize. They are commonly misdiagnosed as hemangiomas or other vascular tumors, so further evaluation by pathology is required for proper diagnosis. We describe a newborn with a neoplastic growth of the lower lip that was thought to be an infantile hemangioma that did not respond to therapy. When the child was 2 months old, an incisional biopsy demonstrated a fibrosarcoma. This case highlights congenital infantile fibrosarcoma as a mimic of infantile hemangioma. To our knowledge this is first case report of congenital infantile fibrosarcoma involving the lip. © 2013 Wiley Periodicals, Inc.

  10. Congenital sideroblastic anemia of a Saudi child.

    Science.gov (United States)

    ALBagshi, Muneer H; Saloma, Somaya H; Albagshi, Hassan M

    2017-01-01

    Sideroblastic anemia is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow, and has congenital and acquired forms. Congenital sideroblastic anemia is a rare condition, which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe one case of congenital sideroblastic anemia, indicating an autosomal recessive inheritance, with its clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.

  11. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

    Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.

  12. The role of disability self-concept in adaptation to congenital or acquired disability.

    Science.gov (United States)

    Bogart, Kathleen R

    2014-02-01

    Current theories of adaptation to disability do not address differences in adaptation to congenital or acquired disability. Although people with congenital disabilities are generally assumed to be better adapted than people with acquired disabilities, few studies have tested this, and even fewer have attempted to explain the mechanisms behind these differences. This study tested the proposition that whether a disability is congenital or acquired plays an important role in the development of the disability self-concept (consisting of disability identity and disability self-efficacy), which in turn, affects satisfaction with life. It was predicted that disability self-concept would be better developed among people with congenital, compared with acquired disabilities, predicting greater satisfaction with life in those with acquired conditions. 226 participants with congenital and acquired mobility disabilities completed a cross-sectional online questionnaire measuring satisfaction with life, self-esteem, disability identity, disability self-efficacy, and demographic information. Self-esteem, disability identity, disability self-efficacy, and income were significant predictors of satisfaction with life. Congenital onset predicted higher satisfaction with life; disability identity and disability self-efficacy, but not self-esteem, partially mediated the relationship. Findings highlight the distinction between adaptation to congenital versus acquired disability and the importance of disability self-concept, which are underresearched constructs. Results suggest that rather than attempting to "normalize" individuals with disabilities, health care professionals should foster their disability self-concept. Possible ways to improve disability self-concept are discussed, such as involvement in the disability community and disability pride. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  13. Congenital heart defects in children with oral clefts

    OpenAIRE

    Nahvi H.; Mollaeian M; Kazemian F; Hoseinpoor M; Keiani A; Khatami F; Khorgami Z; Goodarzi M; Ebrahim Soltani A; ahmadi J.

    2007-01-01

      Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referre...

  14. Complete Ureteral Avulsion

    Directory of Open Access Journals (Sweden)

    V. Gupta

    2005-01-01

    Full Text Available Complete avulsion of the ureter is one of the most serious complications of ureteroscopy. It requires open or laparoscopic intervention for repair. This case report emphasizes its management and presents recommendations for prevention in current urological practice.

  15. Congenital multiple arthrogryposis in bovine

    Directory of Open Access Journals (Sweden)

    D.P. Vrisman

    Full Text Available ABSTRACT This report describes an anal atresia, anatomical urethra alteration (slightly caudal to the udder, thickened joints, and changes in the pelvis in a newborn Holstein cow. Visualization of the final portion of the rectum was not possible by perineal access and laparotomy through the right flank was performed in order for abdominal exploration and colostomy attempt. During the surgical procedure visceral rupture and malformations incompatible with life were observed, so surgeons opted for euthanasia and necropsy. Alterations were confirmed in the genitourinary and gastrointestinal tract. The non-formation of the anus caused dilation of the distal portion of the rectum with fecal content retention, which was drained to the body of the uterus, with the presence of meconium. This amount of anatomical and clinical changes were diagnosed as congenital multiple arthrogryposis.

  16. Prenatal diagnosis of congenital dacryocystocele.

    Science.gov (United States)

    Bachelard-Serra, Mathilde; Chau, Cécile; Farinetti, Anne; Roman, Stéphane; Triglia, Jean-Michel; Nicollas, Richard

    2013-05-01

    Congenital bilateral dacryocystocele was diagnosed prenatally by ultrasonography in 3 female fetuses at 32.5 weeks gestation. After birth, first baby developed respiratory distress and was treated with endoscopic marsupialization of the cysts; the second baby had no respiratory symptoms and had spontaneous resolution of the cysts without surgery. The last one was expected to have a left dacryocystocele in US but the clinical examination after birth showed a bilateral lesion, with predominance on the right side and underwent an endoscopic marsupialization for nasal obstruction. Prenatal diagnosis with ultrasonography facilitated the education of the mothers and staff and helped minimize the risk of potential complications. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  17. Congenital dyschromatopsia and school achievement.

    Science.gov (United States)

    Grassivaro Gallo, P; Panza, M; Viviani, F; Lantieri, P B

    1998-04-01

    In 1993-94, in Liguria (a northwestern Italian region) a study was carried out on dyschromatopsia, a congenital sex-linked form of colour blindness. 3124 junior high school boys aged 10-15 years were tested using Ishihara plates (1973 edition) and Farnsworth's D-15 test (1947 edition). 152 students were identified as colour blind (4.87%), a value slightly below the Italian average of 5.3%. The school achievement of these students was assessed by means of the school marks of two randomised subsamples composed of 82 dyschromates and 82 orthochromates, paired homogeneously by age and class. Statistical analysis indicated significantly lower general school achievement for the 82 dyschromate subjects (except for art). The learning difficulties of dyschromate persons for whom colour is a basic didactic tool are discussed. Introduction of dyschromatopsia tests at preschool would be desirable.

  18. Clinicobacteriological correlates of congenital dacryocystitis

    Directory of Open Access Journals (Sweden)

    Bareja Umesh

    1990-01-01

    Full Text Available One hundred and fourteen eyes with congenital dacryocystitis have been studied clinically and bacteriologically. Gram positive cocci constituted the major bacterial isolates (57.9% with streptococcus pneumoniae predominating (28.9%. The most effective antibiotic was cloxacillin with an overall efficacy of 77%. Normal conjunctival flora was sterile in majority (75% of cases. Positive cases showed preponderance of gram positive cocci (21.6% with staphylococcus albus (13.3% being the major isolate. Normal nasal flora revealed diphtheroids (alone or in combination to be the commonest bacteria (62.1%. A statistically significant correlation was not observed between the normal conjunctival or nasal flora and flora from the affected eyes.

  19. 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.)

  20. Radiological findings of congenital megacolon

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Chung, Sung Hoon; Park, Jae Hyung [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    1980-12-15

    Congenital megacolon, known as Hirschsprung's disease, is potentially lethal cogenital anomaly due to dangerous complications if diagnosis and treatment are delayed. Early diagnosis is important because immediate successful surgical control reduces mortality and morbidity of this infantile disease and barium enema study is the most important diagnostic tool. Authors analyzed clinical and radiological findings of 41 cases of confirmed congenital megacolon during December 1978 to July 1980 at Seoul National University Hospital. Majority of the cases are male and below one year old. Majority of the cases represent abdominal distension, chronic constipation relieved by enema, no passage of meconium within 24hrs, after birth, vomitting, defication difficulty and emaciation. Cases of showing exudative enteropathy complaints diarrhea, dehydration and melena. In simple abdomen film, 25 cases show moderate degree of abdominal distention and 10 cases show markedly distended abdomen. Most frequent segmental pattern is type C (26.8%) and type B is the next (24.4%), and type A occupy 14.6%. There are one case of jejunal aganglionosis and two cases of total colonic aganglionosis. Most frequent shape of transition zone is type II (34%), and type VI is the next (24%) and type IV occupy 17%. In 82% of the cases show hypertrophy of bowel wall of dilated segment, and 85% of above cases show findings of exudative enteropathy. In 73% of the cases show exudative enteropathy. Almost of cases showing markedly distended abdomen, also have moderate to marked degree of hypertrophy of bowel wall and findings of exudative enteropathy. Three cases were taken 24hrs. delay film, show retention of the main bulk of barium.

  1. A comparison between advanced time–frequency analyses of non-stationary magnetization dynamics in spin-torque oscillators

    Energy Technology Data Exchange (ETDEWEB)

    Siracusano, Giulio, E-mail: giuliosiracusano@gmail.com [Department of Electronic Engineering, Industrial Chemistry and Engineering, University of Messina, C. di Dio, S. Agata, 98166 Messina (Italy); Corte, Aurelio La [Department of Electrical, Electronic and Informatic Engineering, University of Catania, Viale Andrea Doria, 6-95125 Catania (Italy)

    2014-02-15

    We report re'sults of different time–frequency analyses (Wavelet and Hilbert–Huang Transform (HHT)) of voltage measurements related to a spin-torque oscillator working in a regime of non-stationary dynamics. Our results indicate that the Wavelet analysis identifies the non-stationary magnetization dynamics revealing the existence of intermittent and independent excited modes while the HHT is able to accurately extract the time domain traces of each independent mode. Overall performance indicates a route for a complete characterization of time–frequency domain data of a STO, pointing out that the combined Wavelet-HHT methodology developed is general and can be also used for a variety of other different scenarios.

  2. Heat-transfer characteristics of flowing and stationary particle-bed-type fusion-reactor blankets

    Energy Technology Data Exchange (ETDEWEB)

    Nietert, R.E.

    1983-02-01

    The following five appendices are included: (1) physical properties of materials, (2) thermal entrance length Nusselt number variations, (3) stationary particle bed temperature variations, (4) falling bed experimental data and calculations, and (5) stationary bed experimental data and calculations. (MOW)

  3. Computing stationary distributions in equilibrium and nonequilibrium systems with forward flux sampling

    NARCIS (Netherlands)

    Valeriani, C.; Allen, R.J.; Morelli, M.J.; Frenkel, D.; Wolde, P.R. ten

    2007-01-01

    We present a method for computing stationary distributions for activated processes in equilibrium and nonequilibrium systems using forward flux sampling. In this method, the stationary distributions are obtained directly from the rate constant calculations for the forward and backward

  4. Novel instrumentation for online monitoring of stationary beds and their height for settling slurries

    CSIR Research Space (South Africa)

    Ilgner, Hartmut J

    2016-06-01

    Full Text Available on Multiphase Technology 2016, Banff, Canada 8 – 10 June 2016 Novel instrumentation for online monitoring of stationary beds and their height for settling slurries H J Ilgner ABSTRACT: Novel instrumentation has been developed to detect stationary...

  5. Congenital Acinar Dysplasia: Report of a Case and Review of Literature

    Directory of Open Access Journals (Sweden)

    Mary Langenstroer

    2013-05-01

    Full Text Available Objective - Describe a case of congenital acinar dysplasia and review the literature. Study Design - Retrospective chart review and literature search. Results - Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment and derangement of the acinar and alveolar architecture of the lungs, resulting in the complete absence of gas exchanging units. The growth-arrested lung tissue resembles the pseudoglandular phase of 16 weeks' gestation. The etiology is unknown. It is diagnosed by exclusion of all other causes of pulmonary hypoplasia and a summation of clinical, imaging, and histopathologic findings. Conclusion - There is no cure and clinical treatment is supportive until death of the infant. We present a case of congenital acinar dysplasia in a male infant who lived 20 days with intensive support.

  6. Features rehabilitation of infants with congenital hip dislocation on the stages of conservative treatment

    Directory of Open Access Journals (Sweden)

    Сергей Юрьевич Волошин

    2015-06-01

    Full Text Available Congenital dislocation of the hip is one of the most common diseases in children leading to disability, which is difficult to diagnose in the first days of life. In the structure of congenital orthopedic diseases congenital dislocation of the hip holds one of the first places. This determines the importance and urgency of the problem, as the most complete restoration of anatomical structures and functions of the hip joint in children occurs in the early diagnosis and comprehensive, timely begun treatment. Rehabilitation of children in the first year of life should be early, systematic, comprehensive and differentiated. Technique of rehabilitation stages conservative treatment includes: wearing functional tires, gymnastics, massage, physiotherapy, therapeutic swimming. This prevents the progression of the disease, the development of early and late complications, does not violate the static-dynamic functions without delay verticalization.

  7. 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.

  8. The effectiveness of a rearview camera and parking sensor system alone and combined for preventing a collision with an unexpected stationary or moving object.

    Science.gov (United States)

    Kidd, David G; Hagoski, Bradly K; Tucker, Tia G; Chiang, Dean P

    2015-06-01

    This study measured the effectiveness of a parking sensor system, a rearview camera, and a sensor system combined with a camera for preventing a collision with a stationary or moving child-size object in the path of a backing vehicle. An estimated 15,000 people are injured and 210 are killed every year in backover crashes involving light vehicles. Cameras and sensor systems may help prevent these crashes. The sample included 111 drivers (55 men, 56 women), including 16 in the no-technology condition, 32 in the sensor condition, 32 in the camera condition, and 31 in the camera-plus-sensor condition. A stationary or moving child-size object was surreptitiously deployed in the path of participants backing out of a parking stall. A significantly smaller proportion of participants in the camera condition hit the stationary object compared with participants in the no-technology condition; however, this benefit was greatly reduced when the stationary object was partially or completely in the shade. Significantly fewer participants hit the moving object than the stationary object. The percentage of participants in the sensor, camera, and camera-plus-sensor conditions who hit the moving object was not different from the no-technology condition. The camera was the only technology that was effective for preventing collisions with the stationary object. The variation in collision outcomes between the stationary- and moving-object conditions illustrates how the effectiveness of these technologies is dependent on the backing situation. This research can help the selection and development of countermeasures to prevent backovers. © 2014, Insurance Institute for Highway Safety.

  9. The effect of a resilience improvement program for adolescents with complex congenital heart disease.

    Science.gov (United States)

    Lee, Sunhee; Lee, Junga; Choi, Jae Young

    2017-04-01

    Adolescents with congenital heart disease need to increase their resilience in the face of challenges in order to preserve their health and quality of life. This study aimed to develop a resilience improvement program for adolescents with congenital heart disease and also to evaluate any change in resilience and quality of life as a measure of the effectiveness of the resilience improvement programs. A nonequivalent control group pretest-posttest study was designed. Twenty-five adolescents who attended the first resilience improvement program were included in the experimental group, and 31 adolescents who took part in the second program were placed in the control group. Adolescents with congenital heart disease completed a self-report questionnaire on three separate occasions: the pretest, the first posttest and the second posttest. The self-report questionnaire included general characteristics and instruments to measure resilience and quality of life. For the longitudinal analysis, generalized estimating equations were used to evaluate the difference in the estimated average trajectories of resilience and quality of life changes. Independent predictors of resilience improvement in adolescents with congenital heart disease were the experimental group ( p=0.02) and middle and high school students ( p=0.02). Quality of life was not associated with membership in the experimental group. However, males scored higher than females on quality of life measures ( p=0.02). It is essential for healthcare providers to apply various programs, including those targeted at accepting illness, improving autonomy and independently managing disease, to adolescents with congenital heart disease.

  10. Syphilis in pregnancy and congenital syphilis in Palmas, Tocantins State, Brazil, 2007-2014.

    Science.gov (United States)

    Cavalcante, Patrícia Alves de Mendonça; Pereira, Ruth Bernardes de Lima; Castro, José Gerley Diaz

    2017-01-01

    to describe the epidemiological profile of reported cases of syphilis in pregnant women and congenital syphilis in the period 2007-2014 in Palmas-TO, Brazil. this is a descriptive study with data from the Information System for Notifiable Diseases (Sinan). 171 pregnant women with syphilis (4.7/1,000 live births [LB]) and 204 cases of congenital syphilis (5.6/1,000 LB) were identified; most women were brown-skinned (71.3%), had low education level (48.0%) and received late diagnosis during prenatal care (71.9%); the incidence of congenital syphilis varied from 2.9 to 8.1/1,000 LB in the period; the predominant maternal characteristics were age from 20 to 34 years (73.5%), having up to complete high school (85.3%), attending prenatal care (81.4%), diagnosis of syphilis during prenatal care (48.0%), and untreated partners of mothers who attended prenatal care (83.0%), reaching almost 80% of live births with congenital syphilis. it is necessary to adopt new strategies for the effectiveness of the prenatal care provided, and, consequently, to reduce the incidence of congenital syphilis.

  11. Imaging assessment of portal venous system: pictorial essay of normal anatomy, anatomic variants and congenital anomalies.

    Science.gov (United States)

    Guerra, A; De Gaetano, A M; Infante, A; Mele, C; Marini, M G; Rinninella, E; Inchingolo, R; Bonomo, L

    2017-10-01

    The purpose of this pictorial essay is to describe anatomic variants and congenital anomalies of portal venous system and related liver parenchymal alterations. The imaging findings of some of these entities have been previously described in other articles, however this work encompasses all congenital anomalies of portal venous system with attention to their features on various imaging modalities; in particular we illustrated with detailed pictures all the main portal vein variants, congenital extra- and intra-hepatic porto-systemic venous shunts and portal vein aneurysm. Variants of portal branches and intrahepatic portosystemic shunts are quite uncommon, however, when present, they should be recognized before performing surgery or interventional procedures. Congenital absence of the portal vein is an important finding as the complete loss of portal perfusion predisposes the liver to focal or diffuse hyperplastic or dysplastic changes. Portal vein aneurysm is a rare clinical entity that can affect intra- and extra-hepatic portal branches; although usually asymptomatic, thrombosis can occur. Awareness of congenital variants of portal venous system among radiologists should allow a more confident diagnosis and permit an accurate planning of surgical procedures and percutaneous interventions; identification of portal system anomalies also suggest an accurate evaluation of associated hepatic parenchymal anomalies such as nodular regenerative hyperplasia, focal nodular hyperplasia (FNH), and adenomas with high risk of malignant transformation.

  12. Wavelet analysis and covariance structure of some classes of non-stationary processes

    OpenAIRE

    Guérin, Charles-Antoine

    2000-01-01

    Processes with stationary n-increments are known to be characterized by the stationarity of their continuous wavelet coefficients. We extend this result to the case of processes with stationary fractional increments and locally stationary processes. Then we give two applications of these properties. First, we derive the explicit covariance structure of processes with stationary n-increments. Second, for fractional Brownian motion, the stationarity of the fractional increments of order greater...

  13. Congenital diaphragmatic hernia in identical twins

    Directory of Open Access Journals (Sweden)

    Mustafa T Gurbaz

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH, Bochdalek type is rarely seen in both members of identical twins. Herein, we report a 37 weeks′ twins with CDH along with a brief review of the literature. Both the neonates survived.

  14. Submacular hemorrhage secondary to congenital toxoplasmosis.

    Science.gov (United States)

    Costa, Ana Luiza Fontes de Azevedo; Martins, Thiago Gonçalves Dos Santos; Moncada, Francisco Javier Solano; Motta, Mário Martins dos Santos

    2014-01-01

    We report the case of a patient with congenital toxoplasmosis and submacular hemorrhage caused by a neovascular membrane who underwent an intravitreal injection of C3F8 and bevacizumab, and had a good visual recovery.

  15. Recessive Dystrophic Epidermolysis Bullosa with Congenital Cataract

    Directory of Open Access Journals (Sweden)

    S M Sharmughan Pillai

    1988-01-01

    Full Text Available Case _ having recessive dystrophic epidermolysis bullosa with severe blistering,scarring, inilia, mucosal ulcerations, corneal involvement, teeth anomalies and deformities of hands and feet had the unusual feature of congenital cortical cataract.

  16. Genetics Home Reference: hypomyelination and congenital cataract

    Science.gov (United States)

    ... fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the ...

  17. Congenital asymmetric crying face: a case report

    Directory of Open Access Journals (Sweden)

    Semra Kara

    2011-12-01

    Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

  18. Genetics Home Reference: congenital generalized lipodystrophy

    Science.gov (United States)

    ... Encyclopedia: Fatty Liver - Nonalcoholic Encyclopedia: Hypertrophic Cardiomypathy Encyclopedia: Polycystic Ovary Syndrome Encyclopedia: Pyloric Stenosis Health Topic: Diabetes Health Topic: Liver Diseases Genetic and Rare Diseases Information Center (3 links) Congenital ...

  19. Genetics Home Reference: giant congenital melanocytic nevus

    Science.gov (United States)

    ... Encyclopedia: Giant Congenital Nevus Nevus Outreach: Treatment Options Primary Care Dermatology Society General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are ...

  20. Transcription Factor Pathways and Congenital Heart Disease

    Science.gov (United States)

    McCulley, David J.; Black, Brian L.

    2013-01-01

    Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners. By understanding the interaction partners, transcriptional targets, and upstream activators of these core cardiac transcription factors, additional information about normal heart formation and further insight into genes and pathways affected in congenital heart disease should result. PMID:22449847

  1. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

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

    2014-01-01

    : diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant......INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  2. Brain MRI Findings in Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-03-01

    Full Text Available Brain magnetic resonance imaging (MRI findings in 13 patients with congenital muscular dystrophy (MDCIC and Fukutin-related protein (FKRP gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.

  3. Anesthetic drugs in congenital heart disease.

    Science.gov (United States)

    Friesen, Robert H

    2014-12-01

    The structural defects associated with the various forms of congenital heart disease lead to pathological and functional changes that place patients at risk for adverse events, and in fact the perioperative incidence of morbidity and mortality has been documented to be increased in children with congenital heart disease. Patients with congenital heart disease can present to the anesthesiologist in a relatively precarious state of balance of several hemodynamic factors, including preload, ventricular contractility, systemic vascular resistance, pulmonary vascular resistance, heart rate, and cardiac rhythm. Anesthetic drugs can affect each of these, and an ideal anesthetic drug for such patients does not exist. The purpose of this article is to review the hemodynamic effects of anesthetic drugs and how they may contribute to the occurrence of adverse events in children with congenital heart disease. © The Author(s) 2014.

  4. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

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

    2014-01-01

    with influenza. RESULTS: We detected statistically significant seasonality in prevalence of anomalies previously associated with influenza, but the conception peak was in June (2.4% excess). We also detected seasonality in congenital cataract (April conceptions, 27%), hip dislocation and/or dysplasia (April, 12......BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation...... to etiologic factors. METHODS: Data on births conceived in 2000 to 2008 were extracted from 20 European Surveillance for Congenital Anomalies population-based congenital anomaly registries in 14 European countries. We performed Poisson regression analysis encompassing sine and cosine terms to investigate...

  5. Congenital Heart Defects and Physical Activity

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Congenital Heart Defects and Physical Activity Updated:Sep 12,2017 Exercise Is for Everyone ... almost all patients do some form of regular physical activity. There are a few exceptions, so it's good ...

  6. Congenital hearing loss. Is CT enough?

    African Journals Online (AJOL)

    Mahmoud Agha

    2014-01-24

    HRCT) in diag- nosis and management of congenital hearing loss. Patients and methods: This is a prospective study including 60 patients, 24 males and 36 females aged from 1 to 7years, who were presented by unilateral or ...

  7. Congenital right sided ureteropelvic junction obstructionin right ...

    African Journals Online (AJOL)

    Congenital right sided ureteropelvic junction obstructionin right crossed fused ectopia with extrarenal calycesmasquerading as massive retroperitoneal urinoma in acase of blunt trauma abdomen: A diagnostic enigma andnovel approach of management.

  8. Congenital bilateral microphthalmos after gestational syphilis.

    Science.gov (United States)

    Navas, Rosa M; Parra, Reinaldo; Pacheco, Maivelys; Gomez, Jimena; Bermudez, Iris; Rodriguez-Morales, Alfonso J

    2006-10-01

    Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum. We report a case of bilateral microphthalmos in which her mother presented gestational syphilis.

  9. A simple stationary semi-analytical wake model

    DEFF Research Database (Denmark)

    Larsen, Gunner Chr.

    -uniform mean wind field, although the modelling of the individual stationary wake flow fields includes non-linear terms. The simulation of the individual wake contributions are based on an analytical solution of the thin shear layer approximation of the NS equations. The wake flow fields are assumed...... rotationally symmetric, and the rotor inflow fields are consistently assumed uniform. Expansion of stationary wake fields is believed to be significantly affected by meandering of wake deficits as e.g. described by the Dynamic Wake Meandering model. In the present context, this effect is approximately...... approximately linearly with the downstream distance. The link from a non-uniform wind farm wind field, consisting of linear perturbations on the ambient non-uniform mean wind field, to a fictitious uniform wake generating inflow field is established using two different averaging approaches – a linear and a non-linear...

  10. Stationary determinism in Observed Time Series the earth's surface temperature

    CERN Document Server

    Gutíerrez, R M

    1999-01-01

    In this work we address the feasibility of estimating and isolating the stationary and deterministic content of observational time series, {\\bf Ots}, which in general have very limited characteristics. In particular, we study the valuable earth's surface mean temperature time series, {\\bf Tts}, by applying several treatments intended to isolate the stationary and deterministic content. We give particular attention to the sensitivity of results on the different parameters involved. The effects of such treatments were assessed by means of several methods designed to estimate the stationarity of time series. In order to strengthen the significance of the results obtained we have created a comparative framework with seven test time series of well-know origin and characteristics with a similar small number of data points. We have obtained a greater understanding of the potential and limitations of the different methods when applied to real world time series. The study of the stationarity and deterministic content ...

  11. Stationary max-stable fields associated to negative definite functions

    OpenAIRE

    Kabluchko, Zakhar; Schlather, Martin; de Haan, Laurens

    2009-01-01

    Let Wi, i∈ℕ, be independent copies of a zero-mean Gaussian process {W(t), t∈ℝd} with stationary increments and variance σ2(t). Independently of Wi, let ∑i=1∞δUi be a Poisson point process on the real line with intensity e−y dy. We show that the law of the random family of functions {Vi(⋅), i∈ℕ}, where Vi(t)=Ui+Wi(t)−σ2(t)/2, is translation invariant. In particular, the process η(t)=⋁i=1∞Vi(t) is a stationary max-stable process with standard Gumbel margins. The process η arises as a limit of a...

  12. Learning in Non-Stationary Environments Methods and Applications

    CERN Document Server

    Lughofer, Edwin

    2012-01-01

    Recent decades have seen rapid advances in automatization processes, supported by modern machines and computers. The result is significant increases in system complexity and state changes, information sources, the need for faster data handling and the integration of environmental influences. Intelligent systems, equipped with a taxonomy of data-driven system identification and machine learning algorithms, can handle these problems partially. Conventional learning algorithms in a batch off-line setting fail whenever dynamic changes of the process appear due to non-stationary environments and external influences.   Learning in Non-Stationary Environments: Methods and Applications offers a wide-ranging, comprehensive review of recent developments and important methodologies in the field. The coverage focuses on dynamic learning in unsupervised problems, dynamic learning in supervised classification and dynamic learning in supervised regression problems. A later section is dedicated to applications in which dyna...

  13. Climate variance influence on the non-stationary plankton dynamics.

    Science.gov (United States)

    Molinero, Juan Carlos; Reygondeau, Gabriel; Bonnet, Delphine

    2013-08-01

    We examined plankton responses to climate variance by using high temporal resolution data from 1988 to 2007 in the Western English Channel. Climate variability modified both the magnitude and length of the seasonal signal of sea surface temperature, as well as the timing and depth of the thermocline. These changes permeated the pelagic system yielding conspicuous modifications in the phenology of autotroph communities and zooplankton. The climate variance envelope, thus far little considered in climate-plankton studies, is closely coupled with the non-stationary dynamics of plankton, and sheds light on impending ecological shifts and plankton structural changes. Our study calls for the integration of the non-stationary relationship between climate and plankton in prognostic models on the productivity of marine ecosystems. Copyright © 2013 Elsevier Ltd. All rights reserved.

  14. 40 CFR Table 3 to Subpart IIIi of... - Certification Requirements for Stationary Fire Pump Engines

    Science.gov (United States)

    2010-07-01

    ... Stationary Fire Pump Engines 3 Table 3 to Subpart IIII of Part 60 Protection of Environment ENVIRONMENTAL.... IIII, Table 3 Table 3 to Subpart IIII of Part 60—Certification Requirements for Stationary Fire Pump Engines Engine power Starting model year engine manufacturers must certify new stationary fire pump...

  15. Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis

    OpenAIRE

    Michael S. Salman; Michael S. Salman; Ian H. Clark; Ian H. Clark

    2017-01-01

    Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin cr...

  16. CONGENITAL RADIAL DYSPLASIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Venkatram Reddy

    2015-08-01

    Full Text Available Congenital radial dysplasia, also referred to as radial club hand , means deficiency along the preaxial or radial side of the extremity. It ranges from hypoplasia of the thumb to variou s degrees of radial hypoplasia. We present one such rare case of type 4 congenital unilateral isolated radial dysplasia with carpel anomaly , reported to our department in SVS medical C ollege, Mahabubanagar, Telangana state

  17. Epidemiology of congenital heart disease in Brazil

    OpenAIRE

    Pinto Júnior,Valdester Cavalcante; Branco,Klébia Magalhães P. Castello; Cavalcante,Rodrigo Cardoso; Carvalho Junior,Waldemiro; Lima,José Rubens Costa; Freitas,Sílvia Maria de; Fraga,Maria Nazaré de Oliveira; Souza,Nayana Maria Gomes de

    2015-01-01

    AbstractIntroduction:Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007.Objective:To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes.Methods:The calculations of prevalence were performed by applying coefficients, giving them function rates for...

  18. DNA methylation abnormalities in congenital heart disease

    OpenAIRE

    Serra-Juh?, Clara; Cusc?, Ivon; Homs, A?da; Flores, Raquel; Tor?n, N?ria; P?rez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylat...

  19. Congenital Scaphoid Megalourethra: A Case Report

    Directory of Open Access Journals (Sweden)

    Kenji Obara

    2017-09-01

    Full Text Available A congenital megalourethra is an enlargement of the pendulous urethra without evidence of distal obstruction. A 1-month-old boy presented to us with complaint of weak stream, ballooning of the penis before and during voiding and post voiding dribbling, since birth. Physical examination and cystourethroscope confirmed the diagnosis of congenital scaphoid megalourethra. He underwent reduction urethroplasty. During postoperative follow up, he had normal looking penis with good urinary stream.

  20. Severe congenital cyclic neutropenia: A case report

    OpenAIRE

    Patil, Vidyavathi H.; Hugar, Shivayogi M; Balikai, Girish; Patil, Sudha

    2016-01-01

    Congenital cyclic neutropenia syndrome is a constitutional genetic disorder which is characterized by very low number of neutrophils (neutropenia). Patients suffering from this disorder clinically present with neutropenia at early age, history of recurrent fever, ulcerations in the oral cavity, gingivitis, and other recurrent infections. This paper describes a case report of a child with recurrent mouth ulcers, fever, and later diagnosed with severe congenital cyclic neutropenia. This also em...

  1. An unusual presentation of congenital bronchoesophageal fistula.

    Science.gov (United States)

    Atalabi, O M; Falade, A G; Obajimi, O M; Akinyinka, O O; Lagundoye, S B; Ibinaiye, P O

    2004-01-01

    We present the case of a 5-week-old neonate with multiple congenital abnormalities including a broncho-oesophageal fistula, which showed radiological features suggestive of congenital diaphragmatic hernia. Emergency limited barium swallow done was initially reported as a case of diaphragmatic hernia. Autopsy revealed pus within the right lung, and a fistulous connection between the oesophagus and an intralobar sequestrated lung. No diaphragmatic hernia or intra-abdominal organ abnormality were seen, and an occipital meningomyelocoele was also confirmed.

  2. Solitary ulcerated congenital giant juvenile xanthogranuloma

    Directory of Open Access Journals (Sweden)

    Su Yuen Ng

    2015-01-01

    Full Text Available A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.

  3. Stationary Patterns of a Cross-Diffusion Epidemic Model

    Directory of Open Access Journals (Sweden)

    Yongli Cai

    2013-01-01

    Full Text Available We investigate the complex dynamics of cross-diffusion SI epidemic model. We first give the conditions of the local and global stability of the nonnegative constant steady states, which indicates that the basic reproduction number determines whether there is an endemic outbreak or not. Furthermore, we prove the existence and nonexistence of the positive nonconstant steady states, which guarantees the existence of the stationary patterns.

  4. Entanglement in stationary nonequilibrium states at high energies

    OpenAIRE

    Znidaric, Marko

    2011-01-01

    In recent years it has been found that quantum systems can posses entanglement in equilibrium thermal states provided temperature is low enough. In the present work we explore a possibility of having entanglement in nonequilibrium stationary states. We show analytically that, in a simple one-dimensional spin chain, there is entanglement even at highest attainable energies; that is, starting from an equilibrium state at infinite temperature, a sufficiently strong driving can induce entanglemen...

  5. Legal regulation of air protection against pollution from stationary sources

    OpenAIRE

    Kunert, Petr

    2014-01-01

    The diploma thesis deals with legal regulation of air protection against pollution from stationary sources especially with the Act no. 201/2012 Coll. on the Protection of Air. The opening chapter introduces to the issues and systematics of the diploma thesis. The second chapter contains the overview of the most important pollutants with their impacts on human health and the environment. The third chapter concerns the international regulation of the air pollution protection including the Europ...

  6. Stationary nonlinear Schrödinger equation on simplest graphs

    Science.gov (United States)

    Sabirov, K. K.; Sobirov, Z. A.; Babajanov, D.; Matrasulov, D. U.

    2013-05-01

    We treat the stationary (cubic) nonlinear Schrödinger equation (NLSE) on simplest graphs. The solutions are obtained for primary star graph with the boundary conditions providing vertex matching and flux conservation. Both, repulsive and attractive nonlinearities are considered. It is shown that the method can be extended to the case of arbitrary number of bonds in star graphs and for other simplest topologies.

  7. Inferring Microscopic Kinetic Rates from Stationary State Distributions.

    Science.gov (United States)

    Dixit, Purushottam D; Dill, Ken A

    2014-08-12

    We present a principled approach for estimating the matrix of microscopic transition probabilities among states of a Markov process, given only its stationary state population distribution and a single average global kinetic observable. We adapt Maximum Caliber, a variational principle in which the path entropy is maximized over the distribution of all possible trajectories, subject to basic kinetic constraints and some average dynamical observables. We illustrate the method by computing the solvation dynamics of water molecules from molecular dynamics trajectories.

  8. Portfolio return distributions: Sample statistics with non-stationary correlations

    OpenAIRE

    Chetalova, Desislava; Schmitt, Thilo A.; Schäfer, Rudi; Guhr, Thomas

    2013-01-01

    We consider random vectors drawn from a multivariate normal distribution and compute the sample statistics in the presence of non-stationary correlations. For this purpose, we construct an ensemble of random correlation matrices and average the normal distribution over this ensemble. The resulting distribution contains a modified Bessel function of the second kind whose behavior differs significantly from the multivariate normal distribution, in the central part as well as in the tails. This ...

  9. Stability of Stationary Solutions of the Multifrequency Radiation Diffusion Equations

    Energy Technology Data Exchange (ETDEWEB)

    Hald, O H; Shestakov, A I

    2004-01-20

    A nondimensional model of the multifrequency radiation diffusion equation is derived. A single material, ideal gas, equation of state is assumed. Opacities are proportional to the inverse of the cube of the frequency. Inclusion of stimulated emission implies a Wien spectrum for the radiation source function. It is shown that the solutions are uniformly bounded in time and that stationary solutions are stable. The spatially independent solutions are asymptotically stable, while the spatially dependent solutions of the linearized equations approach zero.

  10. Effect of Intense Sound Waves on a Stationary Gas Flame

    Science.gov (United States)

    Hahnemann, H; Ehret, L

    1950-01-01

    Intense sound waves with a resonant frequency of 5000 cycles per second were imposed on a stationary propane-air flame issuing from a nozzle. In addition to a slight increase of the flame velocity, a fundamental change both in the shape of the burning zone and in the flow pattern could be observed. An attempt is made to explain the origin of the variations in the flame configuration on the basis of transition at the nozzle from jet flow to potential flow.

  11. Stationary max-stable fields associated to negative definite functions

    NARCIS (Netherlands)

    Z. Kabluchko (Zakhar); M. Schlather (Martin); L.F.M. de Haan (Laurens)

    2009-01-01

    textabstractLet Wi, i ∈ N{double struck}, be independent copies of a zero-mean Gaussian process {W(t), t ∈ R{double struck}d} with stationary increments and variance σ2(t). Independently of Wi, let ∑∞ i=1 δUi be a Poisson point process on the real line with intensity e-y dy. We show that the law of

  12. On Fatigue Life Under Stationary Gaussian Random Loads (A)

    DEFF Research Database (Denmark)

    Talreja, R.

    1973-01-01

    Power spectra are taken to represent stationary Gaussian random loads. Location, scale, and shape parameters are defined for power spectra and proposed as a convenient set of load parameters for random loads. The center frequency of a power spectrum, defined as its weighted average frequency, is ...... introduced by Weibull for probability distributions, is employed to correlate fatigue lives under different power spectral shapes. Good correlations in the test results are obtained....

  13. Alpha Channeling in Rotating Plasma with Stationary Waves

    Energy Technology Data Exchange (ETDEWEB)

    A. Fetterman and N.J. Fisch

    2010-02-15

    An extension of the alpha channeling effect to supersonically rotating mirrors shows that the rotation itself can be driven using alpha particle energy. Alpha channeling uses radiofrequency waves to remove alpha particles collisionlessly at low energy. We show that stationary magnetic fields with high nθ can be used for this purpose, and simulations show that a large fraction of the alpha energy can be converted to rotation energy.

  14. Congenital muscular dystrophy in Jordanian children.

    Science.gov (United States)

    Al-Qudah, A A; Tarawneh, M

    1998-08-01

    This is a consecutive study on 28 patients who have been diagnosed as having congenital muscular dystrophy at Jordan University Hospital in the period from January 1990 to February 1997. Of 75 patients diagnosed as having muscle disease, 55 (73.3%) had muscular dystrophy. Of 55 muscular dystrophy patients, 28 (50.9%) had congenital muscular dystrophy, 11 (20%) had Duchenne muscular dystrophy, 9 (16.4%) had Becker muscular dystrophy, 4 (7.3%) had myotonic dystrophy, 2 (3.6%) had limb-girdle dystrophy, and 1 (1.8%) patient had facioscapulohumeral dystrophy. Age of onset of symptoms of congenital muscular dystrophy (hypotonia and weakness) was documented antenatally or in the first few months in the majority (92.9%) of patients. Parental consanguinity was documented in 21 (75%) of congenital muscular dystrophy cases, and family history of possible similar cases in 15 (53.6%). Congenital muscular dystrophy patients with normal cognitive milestones (n = 16; 57.1%) were slightly more common than patients with cognitive delay. In contrast to previous reports, congenital muscular dystrophy is probably more common in communities with high rates of parental consanguinity than other dystrophies. Our study adds significant support to the most recent literature on this finding.

  15. Management of adolescents with congenital adrenal hyperplasia

    Science.gov (United States)

    Merke, Deborah P; Poppas, Dix P

    2014-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. PMID:24622419

  16. [Aftereffects of congenital infections in infants].

    Science.gov (United States)

    Burdzenidze, E; Zhvania, M

    2006-12-01

    Congenital infections are among the most pressing health care problems. Congenital infections are not reason of congenital malformation and perinatal mortality only, but also pathologies that can be revealed during first year of life. Frequency for congenital viral infection displayed from birth varies between 23% and 92%. The aim of the study was the investigation of inherent infection consequences (citomegaloviral infection, herpes infection and chlamidia) in children in different age groups. Under our observation were 81 children with congenital infections. Among them 29 were with citomegaloviral infection, 17 with herpes infection; 15 chlamidia infection and 22 infections mix (citomegalovirus + herpes, citomegalovirus + chlamidia and chlamidia + herpes). In all observed children neurological simptomatic such as neuro-reflectory hyperexcitability syndrom, hypertension-hydrocephalic syndrom, musculary dystonia syndrom, hydrocephaly, retardation of psychomotor development etc. were present. After birth the worst prevalent are pathologies of cardiovascular system: functional cardiopathy, carditis, congenital heart disease (among them multivalvular disease), affection of hepatobilliar system, organs of vision and hearing etc are present also.

  17. Congenital malformations in newborns of alcoholic mothers

    Directory of Open Access Journals (Sweden)

    Maria dos Anjos Mesquita

    2010-12-01

    Full Text Available Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births, 6 with congenital defects related to alcohol (3.0/1,000 live births, and 67 with developmental disorders related to alcohol (34.1/1,000 live births. The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. Conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.

  18. On the non-stationary generalized Langevin equation

    Science.gov (United States)

    Meyer, Hugues; Voigtmann, Thomas; Schilling, Tanja

    2017-12-01

    In molecular dynamics simulations and single molecule experiments, observables are usually measured along dynamic trajectories and then averaged over an ensemble ("bundle") of trajectories. Under stationary conditions, the time-evolution of such averages is described by the generalized Langevin equation. By contrast, if the dynamics is not stationary, it is not a priori clear which form the equation of motion for an averaged observable has. We employ the formalism of time-dependent projection operator techniques to derive the equation of motion for a non-equilibrium trajectory-averaged observable as well as for its non-stationary auto-correlation function. The equation is similar in structure to the generalized Langevin equation but exhibits a time-dependent memory kernel as well as a fluctuating force that implicitly depends on the initial conditions of the process. We also derive a relation between this memory kernel and the autocorrelation function of the fluctuating force that has a structure similar to a fluctuation-dissipation relation. In addition, we show how the choice of the projection operator allows us to relate the Taylor expansion of the memory kernel to data that are accessible in MD simulations and experiments, thus allowing us to construct the equation of motion. As a numerical example, the procedure is applied to Brownian motion initialized in non-equilibrium conditions and is shown to be consistent with direct measurements from simulations.

  19. Pattern formation of stationary transcellular ionic currents in Fucus

    Science.gov (United States)

    Léonetti, M.; Dubois-Violette, E.; Homblé, F.

    2004-01-01

    Stationary and nonstationary spatiotemporal pattern formations emerging from the cellular electric activity are a common feature of biological cells and tissues. The nonstationary ones are well explained in the framework of the cable model. Inversely, the formation of the widespread self-organized stationary patterns of transcellular ionic currents remains elusive, despite their importance in cell polarization, apical growth, and morphogenesis. For example, the nature of the breaking symmetry in the Fucus zygote, a model organism for the experimental investigation of embryonic pattern formation, is still an open question. Using an electrodiffusive model, we report here an unexpected property of the cellular electric activity: a phase-space domain that gives rise to stationary patterns of transcellular ionic currents at finite wavelength. The cable model cannot predict this instability. In agreement with experiments, the characteristic time is an ionic diffusive one (<2 min). The critical radius is of the same order of magnitude as the cell radius (30 μm). The generic salient features are a global positive differential conductance, a negative differential conductance for one ion, and a difference between the diffusive coefficients. Although different, this mechanism is reminiscent of Turing instability. PMID:15232004

  20. APLIKASI SIX SIGMA PADA PRODUK CLEAR FILE DI PERUSAHAAN STATIONARY

    Directory of Open Access Journals (Sweden)

    Desy Emilasari

    2007-01-01

    Full Text Available This paper describes the application of the Six Sigma methods is used in order to improve quality in manufacturing company that produce stationary product. DMAIC approach is utilized to analyze and improve 'Pocket Clear File' product since this product has more variability and defects. Quality improvement also monitor the process that influenced pocket defect in Bag Making, Kami-ire, Karidome, and Pocket after Karidome Inspections section. Determining of Six Sigma project is based in process and defect type in each section. FMEA also gave the recommendation for quality improvement we need to evaluate the final result of the improvement since some of them were not working properly. Abstract in Bahasa Indonesia : Paper ini menggambarkan bagaimana aplikasi metode Six Sigma digunakan untuk melakukan perbaikan kualitas pada perusahaan manufaktur yang memproduksi produk stationary. Pendekatan DMAIC dipakai untuk menganalisa dan melakukan perbaikan produk 'Pocket Clear File' karena tingginya variabilitas dan cacat dibanding produk lain. Perbaikan kualitas juga memperhatikan proses yang mempengaruhi terjadinya cacat pocket pada section Bag Making, Kami-ire, Karidome, dan Pocket after Karidome Inspection. Penentuan proyek Six Sigma didasarkan atas proses dan jenis cacat pada setiap section. Pendekatan FMEA mampu memberi rekomendasi perbaikan kualitas. Evaluasi dari hasil perbaikan penting untuk dilakukan karena beberapa implementasi perbaikan kualitas tidak berjalan sesuai dengan rencana. kata kunci: six sigma, DMAIC, perusahaan stationary.

  1. Limb salvage treatment for congenital deficiency of the tibia.

    Science.gov (United States)

    Wada, Akifusa; Fujii, Toshio; Takamura, Kazuyuki; Yanagida, Haruhisa; Urano, Noriko; Yamaguchi, Toru

    2006-01-01

    Nine limb salvage treatments were performed in 7 patients with congenital deficiency of the tibia. All feet showed equinovarus deformity and were centralized in a slightly equinus position by placing the distal end of the fibula into the posterior facet of the calcaneus. Tibiofibular fusion was performed in 4 patients with partial deficiency, and fibular transfer (fibular centralization; Brown procedure) in 5 with complete deficiency of the tibia. Callus distraction lengthening was performed repeatedly for leg-length discrepancy on either the femur or the centralized fibula. Satisfactory functional and cosmetic results were obtained in all limbs with partial deficiency, whereas in limbs with completely deficiency, none of the 5 knees treated by fibular transfer achieved a satisfactory functional result because of insufficient quadriceps strength, progressive knee flexion contracture, and persistent ligamentous instability. Nevertheless, in these 5 cases, all patients were ultimately able to withstand weight-bearing.

  2. IJAAAR 2012 COMPLETE ARTICLES

    African Journals Online (AJOL)

    2011

    marketing boards (until their removal) have been responsible for the grading and the quality control of exported cocoa seeds. However, this function was completely out of place after the scrapping of the marketing boards in Nigeria. In the short – run cassava price. (lagged one year) has a positive and significant coefficient ...

  3. Completeness of Lyapunov Abstraction

    Directory of Open Access Journals (Sweden)

    Rafael Wisniewski

    2013-08-01

    Full Text Available In this work, we continue our study on discrete abstractions of dynamical systems. To this end, we use a family of partitioning functions to generate an abstraction. The intersection of sub-level sets of the partitioning functions defines cells, which are regarded as discrete objects. The union of cells makes up the state space of the dynamical systems. Our construction gives rise to a combinatorial object - a timed automaton. We examine sound and complete abstractions. An abstraction is said to be sound when the flow of the time automata covers the flow lines of the dynamical systems. If the dynamics of the dynamical system and the time automaton are equivalent, the abstraction is complete. The commonly accepted paradigm for partitioning functions is that they ought to be transversal to the studied vector field. We show that there is no complete partitioning with transversal functions, even for particular dynamical systems whose critical sets are isolated critical points. Therefore, we allow the directional derivative along the vector field to be non-positive in this work. This considerably complicates the abstraction technique. For understanding dynamical systems, it is vital to study stable and unstable manifolds and their intersections. These objects appear naturally in this work. Indeed, we show that for an abstraction to be complete, the set of critical points of an abstraction function shall contain either the stable or unstable manifold of the dynamical system.

  4. Epispadias with complete prepuce

    African Journals Online (AJOL)

    shanker

    Abstract. Epispadias with complete prepuce is a very rare anomaly. It is often associated with late presentation because it is a very rare condition and the penis appears grossly normal, thus, the diagnosis is easily missed during the neonatal period. We report a case of a boy presenting at seven years of age with epispadias.

  5. Completing lists of entities

    NARCIS (Netherlands)

    Fissaha Adafre, S.; de Rijke, M.; Tjong Kim Sang, E.

    2009-01-01

    We consider the list completion task, an entity retrieval task where, in return to a topic statement and a number of example entities, systems have to return further examples. For this task, we propose and evaluate several algorithms. One of the core challenges is to overcome the very limited amount

  6. Complete French Teach Yourself

    CERN Document Server

    Graham, Gaelle

    2010-01-01

    The best-selling complete course for a fun and effective way to learn French. This ISBN is for the paperback book. The corresponding audio support (ISBN: 9781444100068) is also available. The book and audio support can also be purchased as a pack (ISBN: 9781444100051).

  7. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

    Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

  8. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

    NARCIS (Netherlands)

    Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

    2016-01-01

    Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

  9. Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

    Science.gov (United States)

    Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

    2017-08-01

    Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Repair of congenital heart defects associated with single pulmonary artery.

    Science.gov (United States)

    Bockeria, Leo A; Makhachev, Osman A; Khiriev, Titalav Kh; Podzolkov, Vladimir P; Zelenikin, Mikhail A; Kim, Aleksey I; Zaets, Sergey B

    2015-02-01

    Experience with complete repair of congenital heart defects associated with unilateral absence of a pulmonary artery is limited. The aim of this retrospective study was to present our surgical experience of this complex category of patients, to analyze immediate results of surgical interventions, and to suggest a rational surgical strategy. Of 37 patients with a single pulmonary artery who underwent complete repair of associated heart defects, the left or right pulmonary artery was absent in 32 and 5, respectively. The most frequent heart defects were tetralogy of Fallot (n = 25) and ventricular septal defect (n = 8). The median age of these patients was 7.1 years. Preoperative examinations included echocardiography, cardiac catheterization and angiocardiography, with quantitative assessment of the single pulmonary artery. In-hospital parameters of surgical outcome were analyzed. Recorded hospital mortality was 2.7% (1/37). The single death was in a patient with tetralogy of Fallot, agenesis of the left pulmonary artery, and a small diameter of the contralateral pulmonary artery (Nakata index 174 mm(2)·m(-2)). The right-to-left ventricular systolic pressure ratio after complete tetralogy of Fallot repair in patients who survived the operation was 0.58 ± 0.11. Complete repair of congenital heart defects in patients with unilateral absence of a pulmonary artery is associated with a relatively low risk. If the hilar artery is of adequate size, surgical intervention should attempt restoration of the communication between the disconnected hilar artery and the pulmonary trunk, in addition to repairing the heart defects. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  11. Using stationary image based data collection method for evaluation of traffic sign condition

    Directory of Open Access Journals (Sweden)

    Majid Khalilikhah

    2016-12-01

    Full Text Available Transportation asset management helps monitor the transportation systems and optimize the construction, operation, and maintenance of assets. Many state Department of Transportations (DOTs have already established asset management systems for high cost and low quantity assets, e.g., bridge and tunnel assets. However, due to the sheer number of traffic signs deployed by DOTs, statewide sign inventory and condition information are not well developed. Currently, using handheld devices is the most selected method by agencies to measure signs. To address safety challenge and high cost of data collection, an innovative stationary image based method has recently been proposed. This paper discusses the advantages and disadvantages of such image based method over using handheld devices in terms of the accuracy, possibility and consistency of data, speed, safety, maintenance, and cost. At its completion, this study provides suggestions to tackle the issues associated with image based method.

  12. Stationary amplitudes of quantum walks on the higher-dimensional integer lattice

    Science.gov (United States)

    Komatsu, Takashi; Konno, Norio

    2017-12-01

    Stationary measures of quantum walks on the one-dimensional integer lattice are well studied. However, the stationary measure for the higher-dimensional case has not been clarified. In this paper, we give the stationary amplitude for quantum walks on the d-dimensional integer lattice with a finite support by solving the corresponding eigenvalue problem. As a corollary, we can obtain the stationary measures of the Grover walks. In fact, the amplitude for the stationary measure is an eigenfunction with eigenvalue 1.

  13. Influence of stationary and non-stationary conditions on drying time and mechanical properties of a porcelain slab

    Science.gov (United States)

    Hammouda, Imen; Mihoubi, Daoued

    2017-12-01

    This work deals with a numerical study of the response of a porcelain slab when subjected to convective drying in stationary and non-stationary conditions. The used model describes heat, mass, and momentum transfers is applied to an unsaturated viscoelastic medium described by a Maxwell model. The numerical code allows us to determine the effect of the surrounding air temperature on drying kinetics and on mechanical stress intensities. Von Mises stresses are analysed in order to foresee an eventual damage that may occur during drying. Simulation results for several temperatures in the range of [30 °C, 90 °C] shows that for the temperature from 30 °C to 60 °C, Von Mises stresses are always lower than the yield strength. But above 70 °C, Von Mises stresses are higher than the ultimate strength, and consequently there is a risk of crack at the end of the constant drying rate period. The idea proposed in this work is to integrate a reducing temperature phase when the predicted Von Mises stress intensity exceeds the admissible stress. Simulation results shows that a non-stationary convective drying (90-60 °C) allows us to optimize costs and quality by reducing the drying time and maintaining Von Mises stress values under the admissible stress.

  14. Symptoms of Autism Among Children with Congenital Deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

  15. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    Energy Technology Data Exchange (ETDEWEB)

    Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

    2003-01-01

    Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

  16. Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

    Directory of Open Access Journals (Sweden)

    Ill-Min Chung

    2016-01-01

    Full Text Available Congenital heart defects (CHDs represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation. Research over the past two decades has established firmly the role of genetics in the development of these congenital defects. While syndromic CHDs are more straightforward, non-syndromic CHDs are usually characterized by multiple mutations that affect intricate inter-connected developmental pathways. Knock-out and gene expression studies in mice and other genetic models have been performed to elucidate the roles of these implicated genes. Functional analysis has not been able to resolve the complete picture, as increasingly more downstream effects are continuously being assigned to CHD mutant factors. NKX2-5, a cardiac transcription factor, has received much attention for its role in cardiac dysmorphogenesis. Approximately 50 different mutations in this gene have been identified to date, and only a few have been functionally characterized. The mutant NKX2-5 factor can regulate a number of off-targets downstream to facilitate CHD development. This review summarizes the genetic etiology of congenital heart defects and emphasizes the need for NKX2-5 mutation screening.

  17. Genetics of Congenital Adrenal Hyperplasia

    Science.gov (United States)

    Hannah-Shmouni, Fady; Chen, Wuyan

    2017-01-01

    SYNOPSIS Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with over 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is an important tool in confirming the diagnosis or carrier state, provides prognostic information on disease severity, and is essential for genetic counseling. The genes for the various variants of CAH are well characterized, and mutation analysis is widely available. Certain ethnic groups have a predilection to certain genotypes, which may have resulted from an ancient founder effect, a hot spot in the gene, unequal crossing over during meiosis or gene conversion of point mutations from a pseudogene. Several pitfalls in the genetic diagnosis of patients with CAH exist. In this article, we provide an in-depth discussion on the genetics of CAH, including genetic diagnosis, molecular analysis, genotype-phenotype relationships and counseling of patients and their families. PMID:19500762

  18. Congenital prosopagnosia: A case report

    Directory of Open Access Journals (Sweden)

    Rodrigo Rizek Schultz

    Full Text Available Abstract Prosopagnosia is a visual agnosia characterized by an inability to recognize previously known human faces and to learn new faces. The aim of this study was to present a forty-six year-old woman with congenital prosopagnosia, and to discuss the neural bases of perception and recognition of faces. The patients had a lifetime impairment in recognizing faces of family members, close friends, and even her own face in photos. She also had impairment in recognizing animals such as discriminating between cats and dogs. The patient's basic visual skills showed impairment in identifying and recognizing the animal form perception on the coding subtest of the WAIS-R, recognizing overlapping pictures (Luria, and in identifying silhouettes depicting animals and objects (VOSP. Unconventional tests using pictures evidenced impairment in her capacity to identify famous faces, facial emotions and animals. Her face perception abilities were preserved, but recognition could not take place. Therefore, it appears that the agnosia in this case best fits the group of categories termed "associative".

  19. [Congenital erythropoietic porphyria : An update].

    Science.gov (United States)

    Wenner, C; Neumann, N J; Frank, J

    2016-03-01

    Congenital erythropoetic porphria is a very rare type of autosomal recessive nonacute porphyria. Homozygous or compound heterozygous mutations in the uroporphyrinogen III consynthase gene cause a marked enzymatic deficiency of uroporphyrinogen III consynthase, the fourth enzyme along the heme biosynthetic pathway. Clinically, affected patients are characterized by a moderate to severe photosensitivity. Starting early in infancy, they develop blisters, erosions, and exulcerations in sun-exposed areas of the body, often resulting in scar formation and mutilation. Besides the cutaneous changes, hemolytic anemia, transfusion-dependent pancytopenia, hepatosplenomegaly and liver cirrhosis can occur. Due to increased susceptibility for infections and because of the hematological and hepatic complications, affected individuals have a decreased life expectancy, rarely exceeding 40 years of age. Currently, no causal treatment is available for the disorder. Therefore, the most important therapeutic modality is strict avoidance of sunlight, preferably by inversion of the day-night rhythm, or at least consequent photoprotection with adequate clothing. In severe cases, bone marrow or stem cell transplantation should be considered.

  20. The complete cosmicomics

    CERN Document Server

    Calvino, Italo

    2014-01-01

    The definitive edition of Calvino’s cosmicomics, bringing together all of these enchanting stories—including some never before translated—in one volume for the first time. In Italo Calvino’s cosmicomics, primordial beings cavort on the nearby surface of the moon, play marbles with atoms, and bear ecstatic witness to Earth’s first dawn. Exploring natural phenomena and the origins of the universe, these beloved tales relate complex scientific concepts to our common sensory, emotional, human world. Now, The Complete Cosmicomics brings together all of the cosmicomic stories for the first time. Containing works previously published in Cosmicomics, t zero, and Numbers in the Dark, this single volume also includes seven previously uncollected stories, four of which have never been published in translation in the United States. This “complete and definitive collection” (Evening Standard) reconfirms the cosmicomics as a crowning literary achievement and makes them available to new generations of reader...